# GeDiPNet Shared-Gene Disease Pairs -- generated 2026-10-06 23:55:23
# Similarity: Jaccard index on shared curated genes (disease_gdp). Significance: upper-tail hypergeometric test (P(X>=k)), Benjamini-Hochberg FDR-corrected across all tested pairs. Corroborated Shared Genes: count of shared genes backed by >=2 distinct disease_gdp.main_source values combined across both diseases (e.g. GWAS-backed for one, ClinVar-backed for the other still counts); Shared Gene Names lists each gene's own source count in parentheses. Overlap Coefficient: shared genes / MIN(each disease's own total gene count) -- complements the Jaccard-based Similarity Score by showing how much of the SMALLER disease's entire known gene-set is covered by this pair, which Jaccard (dividing by the union) can understate. Shared Cluster: cluster id if both diseases fall in the same label-propagation cluster (scripts/build_disease_clusters.php), blank otherwise. See scripts/build_related.php on gedipnet.bicnirrh.res.in. Data as of: 2026-10-07 03:00:13.
Disease A	Disease B	Shared Genes	Corroborated Shared Genes	Shared Gene Names	Similarity Score	Overlap Coefficient	P-value	FDR Q-value	Shared Cluster
Central nervous system cancer	Glioma	643	8	AKR1C2 (1), PAFAH1B1 (1), HIRA (1), RREB1 (1), HIBCH (1), ABCA4 (1), ACTB (1), PIK3R1 (1), RTEL1 (2), TERT (2), DOCK6 (1), ADNP (1)	0.83290	0.98018	<1e-300	<1e-300	291
Central nervous system cancer	Glioblastoma	535	7	AKR1C2 (1), PAFAH1B1 (1), HIRA (1), RREB1 (1), HIBCH (1), ABCA4 (1), ACTB (1), PIK3R1 (1), RTEL1 (1), TERT (1), DOCK6 (1), TP53 (1)	0.73388	0.88138	<1e-300	<1e-300	291
Glioblastoma	Glioma	543	13	AKR1C2 (1), PAFAH1B1 (1), NF1 (1), HIRA (1), RREB1 (1), HIBCH (1), ABCA4 (1), ACTB (1), PIK3R1 (1), RTEL1 (2), TERT (2), DOCK6 (1)	0.65978	0.89456	<1e-300	<1e-300	291
Crohn disease	Inflammatory bowel disease	538	60	SOX5 (1), WWOX (1), GLI3 (1), ATP2A2 (1), NOTCH2 (1), PIK3R1 (1), SH2B3 (1), CEBPA (1), NOTCH1 (1), RBPJ (1), IMPG2 (1), PER3 (1)	0.63820	0.77971	<1e-300	<1e-300	14
Crohn disease	Ulcerative colitis	496	64	SOX5 (1), WWOX (1), GLI3 (1), ATP2A2 (1), NOTCH2 (1), SH2B3 (1), CEBPA (1), NOTCH1 (1), RBPJ (1), IMPG2 (1), IFIH1 (1), ALG11 (1)	0.61538	0.81178	<1e-300	<1e-300	14
Cancer	Ovarian serous carcinoma	196	0	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.58333	0.75096	<1e-300	<1e-300	21
Inflammatory bowel disease	Ulcerative colitis	453	57	SOX5 (1), WWOX (1), GLI3 (1), ATP2A2 (1), NOTCH2 (1), SH2B3 (1), CEBPA (1), RTEL1 (1), NOTCH1 (1), RBPJ (1), IMPG2 (1), IFIH1 (1)	0.53357	0.74141	<1e-300	<1e-300	14
Ovarian cancer	Ovarian serous carcinoma	244	0	USP7 (1), ANKRD11 (1), HNF1B (1), KANSL1 (1), PRDM16 (1), RREB1 (1), MAP3K1 (1), PDE4D (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1)	0.49493	0.90370	<1e-300	<1e-300	21
Lung cancer	Squamous cell carcinoma	433	22	ANKRD11 (1), HNF1B (1), KANSL1 (1), BPTF (1), RREB1 (1), MAP3K1 (1), COL2A1 (1), TGM5 (1), SH2B3 (1), CHEK2 (1), RTEL1 (1), TERT (1)	0.43042	0.66718	<1e-300	<1e-300	21
Diabetes mellitus type 2	Metabolic syndrome	1222	84	SOX5 (1), ANKRD11 (1), BPTF (1), DPYD (1), HSPG2 (1), RERE (1), SKI (1), KIF15 (1), COMT (1), JMJD1C (1), RREB1 (1), SEC24C (1)	0.38646	0.93784	<1e-300	<1e-300	2
Attention deficit hyperactivity disorder	Substance abuse	445	16	SOX5 (1), BPTF (1), NFIA (1), BNC1 (1), ACTN2 (1), GBE1 (1), BRWD1 (1), BLNK (1), TEAD1 (1), CACNA1D (1), ALMS1 (1), ADCYAP1R1 (1)	0.37808	0.86240	<1e-300	<1e-300	2
Neurodevelopmental disorder	Non-specific syndromic intellectual disability	333	332	CHD8 (3), SUPT16H (4), CHRNA7 (2), YWHAE (2), PSMD12 (2), GABRD (3), SPEN (2), HNRNPU (4), JMJD1C (2), RREB1 (2), VCP (2), CACNA1D (2)	0.34189	0.90489	<1e-300	<1e-300	6
Bipolar disorder	Major depressive disorder	720	162	SOX5 (1), HNF1B (1), PRKCZ (1), RERE (1), KIF15 (1), COMT (2), SEC24C (1), HDAC4 (2), WWOX (1), ZFPM2 (1), APP (1), SMARCAD1 (1)	0.29256	0.59016	<1e-300	<1e-300	2
Ankylosing spondylitis	Sclerosing cholangitis	195	19	SH2B3 (1), NOTCH1 (1), IFIH1 (1), ANKRD55 (1), BANK1 (1), BSN (1), CDKAL1 (1), EMSY (1), ERN1 (1), ETS1 (1), FAM177A1 (1), FIBP (1)	0.55874	0.84783	2.964e-323	4.666e-320	14
Juvenile idiopathic arthritis	Oligoarticular juvenile idiopathic arthritis	168	16	RERE (1), GP1BB (1), WWOX (2), SLC26A2 (1), ETV6 (1), RUNX1 (1), ANKRD55 (2), ASAP1 (1), AVL9 (1), CAMSAP1 (1), CLIC4 (1), CLU (1)	0.62454	0.98824	1.532e-322	2.250e-319	320
Breast cancer	Estrogen-receptor negative breast cancer	282	5	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (2), ZFPM2 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (4), ARHGEF10L (1), ARL17B (1)	0.26087	0.95270	3.162e-321	4.355e-318	21
Cancer	Estrogen-receptor negative breast cancer	197	0	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.54571	0.75479	8.860e-315	1.149e-311	21
Bipolar disorder	Schizophrenia	751	232	SOX5 (2), CHRNA7 (1), YWHAE (2), HNF1B (1), NFIX (2), RERE (1), COMT (3), HDAC4 (2), WWOX (2), ZFPM2 (1), SMARCAD1 (1), COL2A1 (1)	0.24942	0.61557	1.236e-309	1.514e-306	2
Estrogen-receptor negative breast cancer	Ovarian serous carcinoma	196	0	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.52830	0.72593	6.324e-307	7.335e-304	21
Biliary cholangitis	Biliary cirrhosis	128	16	SH2B3 (1), POU2AF1 (3), DDX6 (1), DEAF1 (1), DGKQ (1), ELMO1 (1), ETS1 (1), HLA-DQA1 (1), HLA-DRA (1), ITGB8 (1), MACIR (1), RARB (1)	0.86486	1.00000	2.436e-297	2.684e-294	288
Ischemic heart disease	Myocardial ischemia	170	44	PRDM16 (1), APOA1 (1), ACAT2 (1), SH2B3 (2), TERT (1), ARHGAP31 (1), AMPD1 (1), TP53 (1), AHSG (1), ABCA1 (1), ABCG8 (2), ACE (1)	0.43367	1.00000	1.828e-290	1.918e-287	73
Juvenile arthritis	Oligoarticular juvenile idiopathic arthritis	126	126	RERE (2), GP1BB (2), WWOX (2), ETV6 (2), ASAP1 (2), AVL9 (2), CAMSAP1 (2), CLU (2), FOXP1 (2), GMPR (2), HBEGF (2), HSPA6 (2)	0.72000	0.96923	1.227e-268	1.229e-265	320
Congestive heart failure	Heart failure	173	137	INS (2), HMGCS2 (2), EDNRB (2), CAT (2), ACACA (2), ATP2A2 (2), AMPD1 (1), TP53 (1), SCD (1), GATM (2), ATP1A3 (2), ACE (2)	0.36268	0.96648	1.014e-267	9.712e-265	34
Ankylosing spondylitis	Ulcerative colitis	228	41	SH2B3 (1), NOTCH1 (1), IFIH1 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (1), BSN (1), CDKAL1 (1), DAG1 (1), EMSY (1), ERN1 (1)	0.32712	0.72843	1.729e-263	1.587e-260	14
Estrogen-receptor negative breast cancer	Ovarian cancer	207	0	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.37230	0.69932	1.234e-261	1.088e-258	21
Cancer	Ovarian cancer	198	0	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.37358	0.75862	1.631e-261	1.382e-258	21
Psoriasis	Sclerosing cholangitis	206	21	SH2B3 (1), NOTCH1 (1), IFIH1 (3), ANKRD55 (1), BANK1 (2), BSN (1), CDKAL1 (1), EMSY (1), ERN1 (1), ETS1 (1), FAM177A1 (1), FIBP (1)	0.27249	0.89565	1.027e-254	8.383e-252	14
Sclerosing cholangitis	Ulcerative colitis	198	24	SH2B3 (1), NOTCH1 (1), IFIH1 (1), ANKRD55 (1), BANK1 (1), BSN (1), CDKAL1 (1), EMSY (1), ERN1 (1), ETS1 (1), FAM177A1 (1), FIBP (1)	0.30745	0.86087	1.601e-254	1.260e-251	14
Ankylosing spondylitis	Psoriasis	232	35	SH2B3 (1), NOTCH1 (1), IFIH1 (3), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (2), BSN (1), CDKAL1 (1), DAG1 (1), EMSY (1), ERN1 (1)	0.28536	0.74121	1.064e-249	8.088e-247	14
Ankylosing spondylitis	Crohn disease	228	44	SH2B3 (1), NOTCH1 (1), IFIH1 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (1), BSN (1), CDKAL1 (1), DAG1 (1), EMSY (1), ERN1 (1)	0.29381	0.72843	7.264e-249	5.336e-246	14
Major depressive disorder	Schizophrenia	905	308	SOX5 (2), PAFAH1B1 (2), HNF1B (1), KANSL1 (1), RERE (1), COMT (3), HDAC4 (2), WWOX (2), ZFPM2 (1), SMARCAD1 (1), COL2A1 (1), PDE4D (1)	0.25160	0.46173	1.917e-248	1.363e-245	2
Crohn disease	Sclerosing cholangitis	200	29	SH2B3 (1), NOTCH1 (1), IFIH1 (1), ANKRD55 (1), BANK1 (1), BSN (1), CDKAL1 (1), EMSY (1), ERN1 (1), ETS1 (1), FAM177A1 (1), FIBP (1)	0.27739	0.86957	1.097e-246	7.552e-244	14
Attention deficit hyperactivity disorder	Autism	499	130	SOX5 (3), RAI1 (3), NFIX (1), NFIA (1), RERE (2), FGF8 (1), COMT (2), JMJD1C (3), HDAC4 (1), ZFPM2 (1), ATP2A2 (1), BRWD1 (2)	0.24106	0.45158	1.995e-238	1.333e-235	2
Deafness	Isolated sensorineural deafness	114	110	CEACAM16 (3), CLIC5 (3), COL11A1 (2), ESRRB (3), EYA4 (3), GIPC3 (3), GRAP (2), LMX1A (3), MYO15A (3), NARS2 (2), OTOF (3), OTOGL (3)	0.64045	0.95798	1.054e-236	6.830e-234	31
Biliary tract cancer	Non-hodgkins lymphoma	108	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.73973	0.91525	1.955e-236	1.231e-233	72
Juvenile arthritis	Juvenile idiopathic arthritis	127	127	RERE (2), GP1BB (2), JMJD1C (2), WWOX (3), ETV6 (2), ASAP1 (2), AVL9 (2), CAMSAP1 (2), CLU (2), FOXP1 (3), GMPR (2), HBEGF (2)	0.47037	0.97692	1.216e-234	7.444e-232	320
Intellectual developmental disorder	Neurodevelopmental disorder	354	263	CHD8 (5), FOXG1 (2), UBE3A (1), CHRNA7 (2), SIN3A (2), USP7 (1), ANKRD11 (2), RAI1 (2), BPTF (4), PSMD12 (1), NFIX (1), SKI (1)	0.25395	0.43758	2.715e-231	1.617e-228	6
Cancer	Lung cancer	199	1	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.27949	0.76245	1.615e-228	9.364e-226	21
Biliary tract cancer	Esophageal cancer	108	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.64286	0.91525	1.504e-223	8.501e-221	72
Coronary artery disease	Myocardial infarction	325	92	CYP17A1 (1), RAI1 (1), PRDM16 (3), SKI (1), ZFPM2 (1), APOA1 (2), SH2B3 (3), TP53 (1), SERPINA1 (1), COL4A4 (1), ABCG8 (3), ACE (2)	0.23231	0.56034	1.904e-223	1.049e-220	34
Lung cancer	Ovarian serous carcinoma	199	1	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), PDE4D (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1)	0.27601	0.73704	3.039e-223	1.633e-220	21
Isolated sensorineural deafness	Nonsyndromic hearing loss	101	75	CEACAM16 (3), CLIC5 (3), COL11A1 (3), ESRRB (3), EYA4 (3), GIPC3 (2), LMX1A (4), MACF1 (2), MYO15A (3), MYO1C (2), OTOF (1), OTOGL (1)	0.73723	0.85593	1.929e-222	1.012e-219	31
Estrogen-receptor negative breast cancer	Lung cancer	205	2	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.27665	0.69257	5.941e-221	3.045e-218	21
Esophageal cancer	Gastric cancer	126	1	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), CHEK2 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1)	0.50400	0.80255	7.613e-221	3.813e-218	72
Biliary tract cancer	Endometrial cancer	108	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.58378	0.91525	9.108e-216	4.460e-213	72
Crohn disease	Psoriasis	289	54	SH2B3 (1), NOTCH1 (1), IFIH1 (3), BLTP1 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (2), BSN (1), BTNL2 (1), CDKAL1 (1), CSMD1 (3)	0.25508	0.41884	7.249e-214	3.473e-211	14
Deafness	Nonsyndromic hearing loss	107	106	CEACAM16 (5), CLIC5 (5), COL11A1 (4), ESRRB (5), EYA4 (4), GIPC3 (4), LMX1A (6), MYO15A (4), OTOF (3), OTOGL (3), PCDH15 (5), THOC1 (3)	0.58152	0.90678	2.987e-213	1.401e-210	31
Fatty liver	Fatty liver, alcoholic	84	75	INS (2), MTTP (2), CAT (2), PTEN (2), SCD (1), APOB (2), APOE (2), ATP7B (2), CYCS (2), F2R (2), FGF21 (2), GPX4 (2)	0.87500	0.97674	2.614e-210	1.200e-207	
Esophageal cancer	Non-hodgkins lymphoma	108	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.58378	0.80000	2.728e-209	1.227e-206	72
Estrogen-receptor negative breast cancer	Squamous cell carcinoma	209	8	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (2), ARHGEF10L (1), ASIP (1), BAD (1)	0.23831	0.70608	6.798e-208	2.996e-205	21
Optic atrophy	Retinitis pigmentosa	142	140	OPA3 (7), ABCA4 (6), ITM2B (2), COL2A1 (2), CNGA3 (2), CNGB3 (2), PDE6C (2), PHYH (2), PRPH2 (7), CACNA1F (2), ALMS1 (2), ABHD12 (2)	0.35859	0.78453	1.969e-207	8.507e-205	7
Psoriasis	Ulcerative colitis	271	57	SH2B3 (1), NOTCH1 (1), IFIH1 (3), BLTP1 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (2), BSN (1), BTNL2 (2), CDKAL1 (1), DAG1 (1)	0.25280	0.44354	2.801e-207	1.187e-204	14
Cancer	Squamous cell carcinoma	198	7	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (2), ARHGEF10L (1), ASIP (1), BAD (1)	0.23212	0.75862	4.134e-207	1.719e-204	21
Cancer	Prostate cancer	208	16	ANKRD11 (1), HNF1B (2), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.20472	0.79693	2.704e-206	1.104e-203	21
Endometrial cancer	Non-hodgkins lymphoma	109	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.54229	0.80741	1.743e-204	6.985e-202	72
Ovarian serous carcinoma	Squamous cell carcinoma	198	7	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (2), ARHGEF10L (1), ASIP (1), BAD (1)	0.22970	0.73333	6.245e-202	2.457e-199	21
Biliary tract cancer	Cervical cancer	109	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.45992	0.92373	6.220e-201	2.405e-198	72
Biliary tract cancer	Gastric cancer	108	1	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.47162	0.91525	2.238e-200	8.503e-198	72
Coronary artery disease	Ischemic heart disease	170	101	PRDM16 (3), APOA1 (2), ACAT2 (1), SH2B3 (3), TERT (3), ARHGAP31 (1), AMPD1 (1), TP53 (1), AHSG (1), ABCA1 (2), ABCG8 (3), ACE (2)	0.14860	1.00000	4.526e-198	1.690e-195	
Breast cancer	Ovarian cancer	270	12	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (2), ABCA4 (1), PDE4D (1), SH2B3 (1), CHEK2 (2), RTEL1 (1), TERT (1), TP53 (4)	0.21378	0.57940	2.280e-197	8.374e-195	21
Ovarian serous carcinoma	Prostate cancer	205	14	ANKRD11 (1), HNF1B (2), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.19942	0.75926	3.606e-195	1.303e-192	21
Estrogen-receptor negative breast cancer	Prostate cancer	212	15	ANKRD11 (1), HNF1B (2), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1)	0.20248	0.71622	8.709e-193	3.096e-190	21
Biliary tract cancer	Cancer	109	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.40221	0.92373	3.370e-192	1.179e-189	
Breast cancer	Ovarian serous carcinoma	209	5	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (2), PDE4D (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (4), ARHGEF10L (1), ASIP (1)	0.18528	0.77407	4.187e-192	1.442e-189	21
Cancer	Colorectal cancer	201	3	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (3), ARHGEF10L (1), ASIP (1), BAD (1)	0.19383	0.77011	4.572e-192	1.550e-189	21
Cervical cancer	Non-hodgkins lymphoma	111	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.44048	0.82222	9.034e-192	3.017e-189	72
Biliary tract cancer	Pancreatic cancer	108	3	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.41221	0.91525	1.545e-191	5.081e-189	72
Gastric cancer	Non-hodgkins lymphoma	109	1	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.44490	0.80741	6.818e-189	2.210e-186	72
Endometrial cancer	Esophageal cancer	108	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.48214	0.68790	1.151e-188	3.675e-186	72
Colorectal cancer	Ovarian serous carcinoma	202	3	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (3), ARHGEF10L (1), ASIP (1), BAD (1)	0.19330	0.74815	1.706e-188	5.371e-186	21
Cancer	Non-hodgkins lymphoma	113	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.39789	0.83704	3.357e-188	1.042e-185	
Biliary tract cancer	Ovarian serous carcinoma	108	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.38434	0.91525	3.926e-187	1.202e-184	
Non-hodgkins lymphoma	Ovarian serous carcinoma	113	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.38567	0.83704	4.813e-186	1.453e-183	
Colorectal cancer	Estrogen-receptor negative breast cancer	208	4	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), RTEL1 (1), TERT (1), TP53 (3), ARHGEF10L (1), ASIP (1), BAD (1)	0.19531	0.70270	1.093e-184	3.254e-182	21
Depression	Major depressive disorder	245	66	APRT (1), COMT (1), SEC24C (1), SOX9 (1), APP (1), CAT (3), TERT (1), GFAP (1), ACE (1), ADRA1A (1), ARSA (1), ATP7B (1)	0.12281	0.87814	4.042e-184	1.188e-181	2
Deafness	Hearing loss	132	124	EDNRB (1), CACNA1D (2), CEACAM16 (5), CLIC5 (3), COL11A1 (4), ESRRB (4), EYA4 (4), GIPC3 (4), GRAP (5), LMX1A (5), MYO15A (4), NARS2 (5)	0.30841	0.76744	1.311e-183	3.802e-181	31
Ovarian cancer	Ovarian epithelial cancer	115	0	HNF1B (1), GLI3 (1), TERT (1), AMPD1 (1), POU2AF1 (1), ADARB2 (1), BCL11A (1), BNC2 (1), CARD11 (1), CDCP1 (1), CTNND1 (1), DMD (1)	0.24625	1.00000	6.451e-182	1.846e-179	21
Biliary tract cancer	Estrogen-receptor negative breast cancer	108	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.35179	0.91525	1.019e-181	2.879e-179	
Lung cancer	Ovarian cancer	217	5	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), PDE4D (1), SH2B3 (1), CHEK2 (2), RTEL1 (1), TERT (1), TP53 (1), ADARB2 (1)	0.24138	0.46567	4.859e-181	1.356e-178	21
Anorexia nervosa	Obsessive-compulsive disorder	129	1	SOX5 (1), RERE (1), ATP2A2 (1), ABT1 (1), AKAP6 (2), BANK1 (1), BRAF (1), C8orf90 (1), CACNB2 (1), CSMD1 (1), CTNND1 (1), DCC (1)	0.36134	0.55128	1.682e-180	4.634e-178	75
Estrogen-receptor negative breast cancer	Non-hodgkins lymphoma	113	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.35423	0.83704	2.598e-180	7.069e-178	
Skin cancer	Skin neoplasms	83	3	TERT (1), TP53 (2), TPCN2 (1), ATP8B4 (1), BNC2 (1), CTNNA2 (1), CUX1 (1), EMSY (1), FADS1 (1), FADS2 (1), FAM76B (1), FOXP1 (1)	0.56463	0.98810	7.361e-180	1.978e-177	16
Non-hodgkins lymphoma	Pancreatic cancer	108	3	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.38710	0.80000	2.523e-177	6.700e-175	72
Obsessive-compulsive disorder	Tourette syndrome	128	1	SOX5 (2), RERE (1), ATP2A2 (1), AKAP6 (1), BANK1 (1), BRAF (1), C8orf90 (1), CACNB2 (1), CAMTA1 (1), CSMD1 (1), CTNND1 (1), CYLC2 (1)	0.35068	0.54701	3.139e-176	8.236e-174	75
Cholecystolithiasis	Gallstones	92	5	HNF1B (1), JMJD1C (1), GATA4 (1), ADAR (1), SERPINA1 (1), ABCG8 (3), ANO1 (1), APOE (1), CPS1 (1), FADS1 (1), FADS2 (1), FARP2 (1)	0.52571	0.74194	2.735e-175	7.092e-173	239
Isolated sensorineural deafness	nonsyndromic genetic hearing loss	78	78	CEACAM16 (2), ESRRB (2), EYA4 (2), GIPC3 (2), GRAP (2), MYO15A (2), NARS2 (2), OTOF (2), OTOGL (2), PCDH15 (2), MCM2 (2), OTOG (2)	0.62903	0.95122	8.368e-174	2.144e-171	31
Cervical cancer	Esophageal cancer	109	1	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.39493	0.69427	3.373e-173	8.543e-171	72
Ovarian cancer	Squamous cell carcinoma	226	15	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), GLI3 (1), SH2B3 (1), CHEK2 (2), RTEL1 (1), TERT (1), TP53 (2), TPCN2 (1)	0.21942	0.48498	2.164e-172	5.420e-170	21
Endometrial cancer	Gastric cancer	110	1	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.38869	0.63218	2.571e-170	6.365e-168	72
Esophageal cancer	Pancreatic cancer	110	3	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.36789	0.70064	2.801e-169	6.859e-167	72
Coronary artery disease	Myocardial ischemia	235	124	PRDM16 (3), APOA1 (2), ACAT2 (1), SH2B3 (3), TERT (3), ARHGAP31 (1), AMPD1 (1), TP53 (1), AHSG (1), SERPINA1 (1), ABCA1 (2), ABCG8 (3)	0.18077	0.60102	5.773e-168	1.398e-165	
Colorectal cancer	Ovarian cancer	240	13	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), CHEK2 (2), RTEL1 (1), TERT (1), TP53 (3), POU2AF1 (1), TPCN2 (1)	0.19950	0.51502	1.543e-167	3.696e-165	21
Ovarian cancer	Prostate cancer	238	18	ANKRD11 (1), HNF1B (2), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), CHEK2 (6), RTEL1 (1), TERT (1), TP53 (1), TPCN2 (1), ADARB2 (1)	0.19983	0.51073	1.534e-166	3.636e-164	21
Cervical cancer	Endometrial cancer	109	0	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.37201	0.62644	2.439e-165	5.719e-163	72
Major depressive disorder	Mood disorder	241	62	PAFAH1B1 (1), KANSL1 (1), RERE (1), COMT (1), HDAC4 (2), ATP2A2 (2), BLTP1 (1), SERPINA1 (2), ADCY8 (2), ANK3 (2), ARFGAP2 (1), ARHGAP15 (1)	0.11943	0.80872	2.232e-163	5.178e-161	2
Anorexia nervosa	Tourette syndrome	124	4	SOX5 (2), RERE (1), ATP2A2 (1), AKAP6 (2), BANK1 (1), BRAF (1), C8orf90 (1), CACNB2 (1), CSMD1 (1), CTNND1 (1), DCC (1), DGKI (1)	0.32124	0.49402	1.563e-162	3.588e-160	75
Inflammatory bowel disease	Sclerosing cholangitis	158	15	SH2B3 (1), NOTCH1 (1), IFIH1 (1), ANKRD55 (1), BANK1 (1), BSN (1), CDKAL1 (1), EMSY (1), ETS1 (1), FIBP (1), FOXP1 (1), FUT2 (1)	0.20708	0.68696	3.302e-162	7.503e-160	14
Mitochondrial complex deficiency	Mitochondrial disease	97	84	COA8 (5), COX5A (5), NDUFA10 (6), NDUFA12 (4), NDUFA9 (4), NDUFAF2 (5), NDUFAF6 (6), SDHB (6), UQCRFS1 (6), UQCRH (5), ATP5F1A (5), ND1 (1)	0.36604	0.81513	1.095e-161	2.462e-159	62
Attention deficit hyperactivity disorder	Schizophrenia	553	175	SOX5 (2), HMGA2 (1), RAI1 (2), NFIX (1), RERE (1), COMT (3), HDAC4 (2), ZFPM2 (1), ATP2A2 (2), BMPR1B (1), TEAD1 (1), CDK10 (1)	0.17873	0.50045	2.308e-161	5.138e-159	2
Endometrial cancer	Pancreatic cancer	110	3	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.34810	0.63218	2.674e-161	5.893e-159	72
complex neurodevelopmental disorder	Non-specific syndromic intellectual disability	105	105	CHD8 (2), GABRD (2), HNRNPU (2), CACNA1D (2), CHD2 (2), CNTNAP2 (2), CUL3 (3), DLGAP2 (2), EPB41L1 (2), GIGYF1 (2), GNB2 (3), GRIA1 (2)	0.27487	0.88983	2.962e-161	6.463e-159	6
Inflammatory bowel disease	Psoriasis	248	39	SH2B3 (1), NOTCH1 (1), IFIH1 (3), BLTP1 (1), ABT1 (1), ANKRD55 (1), ATXN2L (1), BANK1 (2), BSN (1), BTNL2 (1), CDKAL1 (1), ELL (1)	0.21124	0.35942	7.219e-161	1.560e-158	14
Autism	Schizophrenia	652	347	SOX5 (3), CHRNA7 (2), RAI1 (3), KANSL1 (1), NFIX (1), DPYD (3), RERE (2), COMT (3), SHANK3 (4), HDAC4 (2), SRD5A2 (1), WWOX (2)	0.19445	0.44566	2.317e-159	4.957e-157	2
Deafness	nonsyndromic genetic hearing loss	79	79	CEACAM16 (4), ESRRB (4), EYA4 (4), GIPC3 (4), GRAP (3), MYO15A (4), NARS2 (3), OTOF (4), OTOGL (4), PCDH15 (4), MCM2 (4), OTOG (4)	0.44886	0.96341	3.040e-159	6.441e-157	31
Hearing loss	Isolated sensorineural deafness	105	88	CEACAM16 (3), CLIC5 (2), COL11A1 (3), ESRRB (2), EYA4 (2), GIPC3 (2), GRAP (4), LMX1A (4), MYO15A (2), NARS2 (4), OTOF (2), OTOGL (2)	0.26119	0.88235	1.180e-157	2.477e-155	31
Anorexia nervosa	Attention deficit hyperactivity disorder	183	3	SOX5 (1), HMGA2 (1), RERE (1), ATP2A2 (1), ALMS1 (1), AKAP6 (2), BANK1 (1), BCL11A (1), BRAF (1), BSN (1), C8orf90 (1), CACNB2 (1)	0.15588	0.72908	5.679e-156	1.181e-153	
Non-organic psychosis	Psychotic disorders	69	0	TBX1 (1), ANK3 (1), CD34 (1), GCH1 (1), NPAS3 (1), PCNT (1), PDE10A (1), SOBP (1), TCF4 (1), WWC1 (1), GSTP1 (1), LEP (1)	0.54762	1.00000	3.582e-155	7.378e-153	
Breast cancer	Prostate cancer	330	31	ANKRD11 (1), HNF1B (2), KANSL1 (1), RREB1 (1), TBX1 (1), MAP3K1 (2), SH2B3 (1), CHEK2 (5), RTEL1 (1), TERT (1), TP53 (4), TPCN2 (1)	0.19423	0.34304	1.234e-153	2.519e-151	21
nonsyndromic genetic hearing loss	Nonsyndromic hearing loss	72	72	CEACAM16 (4), ESRRB (4), EYA4 (4), GIPC3 (3), MYO15A (4), OTOF (2), OTOGL (2), PCDH15 (4), MCM2 (4), OTOG (4), TMC1 (5), HGF (4)	0.55814	0.87805	6.641e-153	1.343e-150	31
Attention deficit hyperactivity disorder	Major depressive disorder	474	83	SOX5 (1), BPTF (1), RERE (1), COMT (2), HDAC4 (2), MCM9 (1), ZFPM2 (1), ATP2A2 (2), CDK10 (1), ADAMTS2 (1), ADARB1 (1), ADCYAP1R1 (1)	0.18287	0.42896	3.771e-152	7.554e-150	2
Cervical cancer	Gastric cancer	110	1	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (1), ARHGEF10L (1), ASIP (1), ATXN7L1 (1), BAD (1), BNC2 (1), CELF2 (1)	0.32738	0.50459	5.680e-152	1.128e-149	72
Gastric cancer	Pancreatic cancer	113	5	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (1), TP53 (4), ARHGEF10L (1), ASB3 (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1)	0.31653	0.51835	8.845e-152	1.740e-149	72
Breast cancer	Lung cancer	273	12	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (2), PDE4D (1), SH2B3 (1), CHEK2 (1), RTEL1 (1), TERT (1), TP53 (4), TP63 (1)	0.18919	0.42065	1.884e-151	3.675e-149	21
Ankylosing spondylitis	Inflammatory bowel disease	171	26	SH2B3 (1), NOTCH1 (1), IFIH1 (1), ANKRD55 (1), ATXN2L (1), BANK1 (1), BSN (1), CDKAL1 (1), EMSY (1), ETS1 (1), FIBP (1), FUT2 (1)	0.20528	0.54633	8.801e-151	1.701e-148	14
Asthma	Respiratory system disease	174	22	RERE (1), CEBPA (1), RTEL1 (1), RUNX1 (1), ARHGAP15 (1), BCL3 (1), CARD11 (2), CCR7 (1), DOCK3 (1), EMSY (1), ETS1 (1), FADS1 (1)	0.15317	0.72199	1.460e-149	2.797e-147	14
Global developmental delay	Intellectual developmental disorder	191	64	FOXG1 (2), UBE3A (1), ANKRD11 (1), KANSL1 (2), BPTF (1), NFIX (1), SHANK3 (2), WWOX (1), PTEN (2), ACTL6A (1), ADNP (1), VCP (1)	0.19312	0.51622	1.597e-148	3.034e-146	6
Biliary tract cancer	Hepatocellular carcinoma	111	8	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (2), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.16895	0.94068	6.282e-147	1.183e-144	72
Non-neoplastic peripheral nervous system disease	Peripheral nervous system disease	52	52	DPYD (2), SLC12A6 (2), GFAP (2), ABCA1 (2), CACNA1H (2), ERCC1 (2), MMP3 (2), TCF4 (2), GSTP1 (2), ICAM1 (2), IGF1 (2), IGF1R (2)	0.92857	0.98113	1.191e-145	2.224e-143	304
Bone fragility with contractures, arterial rupture, and deafness	Osteoporosis-pseudoglioma syndrome	49	2	ALPL (1), BMP1 (1), CCDC134 (1), GORAB (1), NBAS (1), SERPINF1 (1), TENT5A (1), XYLT1 (1), AMBN (1), SEC16B (1), COL1A1 (1), SLC10A7 (1)	0.98000	1.00000	4.281e-143	7.928e-141	127
Intellectual developmental disorder, x-linked	X-linked intellectual disability	63	62	SOX3 (6), FGD1 (2), ATRX (1), DMD (3), FRMPD4 (6), SLC9A7 (5), GDI1 (7), GRIA3 (5), OPHN1 (7), CASK (6), MECP2 (7), MED12 (4)	0.62376	0.85135	2.952e-142	5.422e-140	129
Ankylosing spondylitis	Autoimmune disease	112	52	SH2B3 (1), ADGRL2 (1), AICDA (2), ANKRD55 (1), ATXN2L (1), C1S (2), CRYBB2 (2), DAG1 (1), FUT2 (1), IGF2 (1), IKZF1 (3), LRRK2 (1)	0.27723	0.55446	2.097e-141	3.820e-139	
Colorectal cancer	Lung cancer	254	10	ANKRD11 (1), HNF1B (1), KANSL1 (1), RREB1 (1), MAP3K1 (1), SH2B3 (1), CHEK2 (2), RTEL1 (1), TERT (1), ADAR (1), TP53 (3), ADCY8 (1)	0.18513	0.39137	3.988e-141	7.205e-139	21
Rheumatoid arthritis	Systemic lupus erythematosus	216	84	CAT (2), SH2B3 (3), TP63 (1), TPCN2 (1), BLTP1 (1), AFF3 (3), ANKRD55 (3), BTNL2 (2), DDX6 (3), DGKQ (1), ESR2 (1), ETS1 (4)	0.19619	0.33028	1.664e-139	2.981e-137	47
Dermatologic disorder	Skin disease	68	66	PTEN (2), SCD (1), CCRL2 (2), ERCC2 (2), INPP5A (3), PDE4B (2), GSTO1 (2), HSPA1B (2), IL10 (1), IL1A (2), IL1B (2), MTHFR (2)	0.38202	1.00000	5.031e-139	8.942e-137	16
Hearing loss	Nonsyndromic hearing loss	97	95	CEACAM16 (3), CLIC5 (4), COL11A1 (4), ESRRB (3), EYA4 (4), GIPC3 (3), LMX1A (6), MYO15A (4), OTOF (2), OTOGL (2), PCDH15 (5), THOC1 (3)	0.23716	0.82203	1.093e-138	1.927e-136	31
Diabetes mellitus type 1	Rheumatoid arthritis	188	72	CAT (2), CP (2), SH2B3 (3), BLTP1 (1), AFF3 (3), ANKRD55 (3), BTNL2 (2), CCRL2 (1), DGKQ (1), EMSY (1), ERBB3 (1), ETS1 (2)	0.19748	0.39413	1.833e-136	3.206e-134	47
Testicular carcinoma	Testicular germ cell tumor	53	6	HNF1B (1), DMRT1 (1), GATA4 (1), PIK3CD (1), TERT (1), ATF7IP (1), CENPE (1), GAB2 (1), HEATR3 (1), LIPG (1), MAD1L1 (2), PDE8A (1)	0.77941	0.88333	8.063e-136	1.399e-133	
Cardiovascular disease	Hypertension	220	46	CYP11B2 (2), CASZ1 (1), PRDM16 (1), RERE (1), ZFPM2 (1), POLR1A (1), PIK3R1 (1), SH2B3 (1), ADK (1), CACNA1D (1), ALG9 (1), ACE (3)	0.16153	0.50926	5.382e-135	9.267e-133	34
Autoimmune disease	Autoimmune thyroid disease	87	7	SH2B3 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), C12orf42 (1), CAMK4 (1), DAG1 (1), ELMO1 (1), ERBB3 (1), FAM76B (1), FUT2 (1), GIGYF1 (1)	0.33462	0.60417	2.908e-133	4.967e-131	47
complex neurodevelopmental disorder	Neurodevelopmental disorder	113	112	CHD8 (3), GABRD (2), HNRNPU (4), CACNA1D (2), CHD2 (4), CNTNAP2 (2), CUL3 (6), DLGAP2 (2), EPB41L1 (2), GIGYF1 (4), GNB2 (5), GRIA1 (2)	0.11970	0.95763	8.382e-133	1.421e-130	6
Glaucoma	Open angle glaucoma	118	25	PRDM16 (1), LTBP3 (1), CHEK2 (1), RUNX1 (1), ABCA1 (1), ANKH (1), ANTXR1 (1), APOE (2), BCAS3 (1), BNC2 (1), CADM2 (1), CDKN2B (4)	0.24280	0.50427	1.412e-132	2.375e-130	
Major depressive disorder	Neurotic disorder	268	20	SOX5 (1), CYP17A1 (1), PAFAH1B1 (1), KANSL1 (1), RERE (1), PDE4D (2), ARHGAP15 (1), ARHGEF10L (1), ARL17B (1), AS3MT (1), BNC2 (1), CACNA1E (1)	0.12594	0.61609	3.729e-132	6.226e-130	2
Alzheimer disease	Dementia	333	27	HNF1B (1), NFIX (1), ZFPM2 (1), APP (7), PSEN1 (6), PRRX1 (1), AIPL1 (1), TPCN2 (1), ABCA1 (2), ABCA7 (4), ABI3 (2), ACE (2)	0.13449	0.56441	8.537e-132	1.415e-129	2
Attention deficit hyperactivity disorder	Bipolar disorder	350	85	SOX5 (1), NFIX (2), NFIA (1), RERE (1), COMT (2), HDAC4 (1), DHH (1), ZFPM2 (1), ATP2A2 (1), CDK10 (1), CACNA1D (3), ALMS1 (1)	0.17713	0.31674	1.737e-130	2.856e-128	2
Hepatocellular carcinoma	Non-hodgkins lymphoma	110	6	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (2), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.16296	0.81481	1.944e-129	3.173e-127	72
Eczema	Inflammatory skin disease	76	0	IFIH1 (1), BLTP1 (1), ANO3 (1), CSMD1 (1), EBF1 (1), ELMO1 (1), EMSY (1), MGMT (1), PTPRN2 (1), RAP1GAP2 (1), RASIP1 (1), SMARCA4 (1)	0.20765	1.00000	8.221e-128	1.332e-125	14
Cardiomyopathy	Dilated cardiomyopathy	107	74	PRDM16 (4), COMT (1), PSEN1 (6), ABCC9 (7), ACTN2 (7), CTNNA3 (1), DMD (6), DSG2 (7), EYA4 (5), FHOD3 (4), JUP (1), KCNE2 (1)	0.26034	0.43852	9.722e-128	1.564e-125	3
Hereditary spastic paraplegia	Spastic paraplegia	67	58	NIPA1 (4), ABCD1 (1), ALDH18A1 (4), SLC16A2 (1), ALS2 (2), AP4M1 (2), ARSI (3), MTRFR (3), SETX (1), SPG11 (4), USP8 (3), UCHL1 (5)	0.43226	0.66337	3.878e-125	6.193e-123	242
Charcot-marie-tooth disease	Hereditary motor and sensory neuropathies	60	51	DHTKD1 (5), AARS1 (7), VCP (5), SLC12A6 (4), EGR2 (8), KIF1B (6), MME (8), RAB7A (7), SETX (2), TRPV4 (6), PLD3 (1), DCTN1 (2)	0.43165	0.90909	1.023e-123	1.622e-121	13
Psoriasis	Rheumatoid arthritis	212	69	CAT (2), CP (2), SH2B3 (1), RUNX1 (3), TP63 (1), BLTP1 (1), ABT1 (1), ANKRD55 (3), BSN (1), BTNL2 (2), ELMO1 (1), EMSY (1)	0.17936	0.32024	1.521e-123	2.394e-121	
Basal cell carcinoma	Keratinocyte carcinoma	74	9	ANKRD11 (1), COLEC10 (1), PIK3R1 (1), TERT (2), TP53 (3), BNC2 (2), CTSH (1), CUX1 (1), EPB41L1 (1), EXO1 (1), FOXP1 (1), GPX4 (1)	0.22356	0.96104	1.707e-123	2.668e-121	16
Cardiomyopathy	Hypertrophic cardiomyopathy	101	65	INS (2), ABCC9 (1), ACTN2 (3), TP53 (2), AGT (2), DMD (2), DSG2 (1), FHOD3 (5), JUP (1), KAT8 (2), MYOZ2 (6), MYPN (2)	0.25250	0.41393	2.635e-120	4.089e-118	3
Degenerative disorder	Neurodegenerative disorder	40	38	APP (2), PSEN1 (2), SERPINA1 (2), MAPT (2), EPO (2), GSTO1 (2), HMOX1 (2), NGFR (2), SNCA (2), SOD2 (2), IL6 (2), NGF (2)	0.95238	1.00000	1.117e-118	1.721e-116	
Autism	Major depressive disorder	507	241	SOX5 (3), KANSL1 (1), PRKCZ (2), RERE (2), COMT (2), HDAC4 (2), MCCC2 (2), SOX9 (2), WWOX (2), ZFPM2 (1), CAT (3), ATP2A2 (2)	0.17381	0.34655	7.076e-118	1.083e-115	2
Autism	Bipolar disorder	388	181	SOX5 (3), CHRNA7 (2), ANKRD11 (3), AKR1C4 (2), NFIX (2), NFIA (1), PRKCZ (2), RERE (2), COMT (2), HDAC4 (1), WWOX (2), ZFPM2 (1)	0.16899	0.31803	1.309e-117	1.990e-115	2
Cardiac embolism	Cardioembolic stroke	50	0	PRRX1 (1), C16orf95 (1), DOCK10 (1), EPHA4 (1), GLIS3 (1), GORAB (1), HNF4G (1), HTR1E (1), KCNN3 (1), RBFOX1 (1), RBMS3 (1), RGS4 (1)	0.49020	1.00000	2.786e-116	4.206e-114	
Dejerine-sottas disease	Hypertrophic neuropathy	38	4	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (4), KIF1B (1), MME (1), TRPV4 (1), DYNC1H1 (1), FIG4 (1), MFN2 (1), NEFL (1)	0.97436	1.00000	4.118e-115	6.091e-113	13
Dejerine-sottas disease	Roussy-levy syndrome	38	4	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (3), KIF1B (1), MME (1), TRPV4 (1), DYNC1H1 (1), FIG4 (1), MFN2 (1), NEFL (1)	0.97436	1.00000	4.118e-115	6.091e-113	13
Hypertrophic neuropathy	Roussy-levy syndrome	38	4	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (2), KIF1B (1), MME (1), TRPV4 (1), DYNC1H1 (1), FIG4 (1), MFN2 (1), NEFL (1)	0.97436	1.00000	4.118e-115	6.091e-113	13
Esophageal cancer	Hepatocellular carcinoma	109	7	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (2), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.15616	0.69427	1.448e-114	2.128e-112	72
Hypertrophic neuropathy	Peroneal muscle atrophy	38	4	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (2), KIF1B (1), MME (1), TRPV4 (1), DYNC1H1 (1), FIG4 (1), MFN2 (1), NEFL (1)	0.95000	1.00000	1.606e-113	2.313e-111	13
Peroneal muscle atrophy	Roussy-levy syndrome	38	2	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (1), KIF1B (1), MME (1), TRPV4 (1), DYNC1H1 (1), FIG4 (1), MFN2 (1), NEFL (1)	0.95000	1.00000	1.606e-113	2.313e-111	13
Dejerine-sottas disease	Peroneal muscle atrophy	38	4	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (3), KIF1B (1), MME (1), TRPV4 (1), DYNC1H1 (1), FIG4 (1), MFN2 (1), NEFL (1)	0.95000	1.00000	1.606e-113	2.313e-111	13
Diabetes mellitus type 1	Psoriasis	176	54	BPTF (1), RERE (1), COLEC10 (1), CAT (2), CP (2), SH2B3 (3), IFIH1 (3), BLTP1 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (2)	0.17038	0.36897	4.022e-113	5.756e-111	
Attention deficit hyperactivity disorder	Obsessive-compulsive disorder	148	6	SOX5 (1), RAI1 (1), RERE (1), COMT (2), ATP2A2 (1), AKAP6 (1), BANK1 (1), BRAF (1), C6orf118 (1), C8orf90 (1), CACNA2D3 (1), CACNB2 (1)	0.12416	0.63248	4.513e-111	6.417e-109	
Endometrial cancer	Hepatocellular carcinoma	111	8	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (2), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CELF2 (1), DCAF4 (1)	0.15568	0.63793	2.987e-110	4.219e-108	72
Bipolar depression	Bipolar disorder	102	72	COMT (2), INS (2), PER3 (1), CACNA1D (2), SERPINA1 (2), ATP1A3 (1), ANK3 (3), BRD1 (1), DISC1 (1), FADS2 (3), FSTL5 (3), GCH1 (1)	0.08333	0.97143	1.322e-109	1.856e-107	2
Autoimmune thyroid disease	Hypothyroidism	89	9	RERE (1), SH2B3 (1), IFIH1 (1), BTNL2 (1), C12orf42 (1), CAMK4 (1), ELMO1 (1), ERBB3 (1), FAM76B (1), GIGYF1 (1), HLA-DQA1 (2), HLA-DRA (2)	0.20698	0.61806	2.721e-109	3.795e-107	47
Aortic stenosis	Aortic valve disease	49	0	HMGA2 (1), ACAN (1), ALPL (1), PRRX1 (1), ALDH1A2 (1), ARHGAP24 (1), ASCC2 (1), FADS1 (1), FADS2 (1), FLNB (1), HCN1 (1), LDLR (1)	0.52688	0.81667	5.196e-109	7.201e-107	
Cognition disorder	Delirium, dementia, and cognitive disorders	44	44	COMT (2), APP (2), PSEN1 (2), AGT (2), APOE (3), IGF2 (2), LAMB2 (2), MAPT (2), SETD7 (2), BCHE (2), CDK5R1 (2), CRH (2)	0.65672	0.81481	2.116e-108	2.914e-106	366
Cleft lip	Complete unilateral cleft lip	36	25	FGF8 (2), ABCA4 (2), FGFR3 (2), KIF7 (1), TP63 (2), FGF10 (2), IRF6 (2), SPRY2 (2), TCN2 (2), NOS3 (2), MTHFR (2), BMP4 (1)	0.94737	1.00000	2.557e-108	3.501e-106	136
Leigh syndrome	Mitochondrial disease	72	67	HIBCH (3), TRMU (3), IARS2 (4), MTRFR (3), NARS2 (3), NDUFA10 (5), NDUFA12 (2), NDUFA9 (3), NDUFAF2 (4), NDUFAF6 (4), ND2 (1), NDUFS3 (4)	0.25899	0.67290	1.619e-107	2.202e-105	62
Non-neoplastic peripheral nervous system disease	Peripheral neuropathy	54	0	DPYD (1), SLC12A6 (1), GFAP (1), ABCA1 (1), CACNA1H (1), ERCC1 (1), MMP3 (1), TCF4 (1), GSTP1 (1), GSTT1 (1), ICAM1 (1), IGF1 (1)	0.27979	1.00000	4.242e-107	5.736e-105	304
Myocardial infarction	Myocardial ischemia	144	84	PRDM16 (2), APOA1 (1), SH2B3 (3), TP53 (1), SERPINA1 (1), ABCG8 (2), ACE (2), AGT (2), APOB (2), APOC1 (1), APOE (3), CDH13 (1)	0.17391	0.36829	1.097e-106	1.474e-104	
Hearing loss	nonsyndromic genetic hearing loss	72	72	CEACAM16 (4), ESRRB (3), EYA4 (3), GIPC3 (3), GRAP (4), MYO15A (3), NARS2 (5), OTOF (3), OTOGL (3), PCDH15 (4), OTOG (3), TMC1 (2)	0.18090	0.87805	1.169e-106	1.562e-104	31
Autoimmune thyroid disease	Diabetes mellitus type 1	93	20	RERE (1), SH2B3 (3), IFIH1 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (1), BTNL2 (1), CAMK4 (1), DAG1 (1), ERBB3 (1), FAM76B (1)	0.17580	0.64583	3.526e-106	4.681e-104	47
Hypothyroidism	Rheumatoid arthritis	148	30	SH2B3 (1), RBPJ (3), BTNL2 (2), ELMO1 (1), ERBB3 (1), ETS1 (1), FADS1 (1), FADS2 (1), FAM76B (1), FKBPL (1), GABBR1 (1), GLIS3 (1)	0.16648	0.39572	3.983e-106	5.256e-104	47
Inflammatory bowel disease	Rheumatoid arthritis	191	61	SH2B3 (1), RBPJ (3), BLTP1 (1), ABT1 (1), AFF3 (3), ANKRD55 (3), BSN (1), BTNL2 (2), CCRL2 (1), DLGAP2 (1), ELMO1 (1), EMSY (1)	0.16437	0.28852	4.556e-106	5.977e-104	
Anorexia nervosa	Bipolar disorder	154	35	SOX5 (1), RERE (1), WWOX (1), ATP2A2 (1), ZSWIM6 (1), ALMS1 (1), AKAP6 (2), BANK1 (1), BRAF (1), BSN (1), C8orf90 (1), CACNB2 (2)	0.11684	0.61355	5.956e-106	7.766e-104	
Pituitary short stature	Sheehan syndrome	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.97143	1.00000	1.295e-104	1.659e-102	58
Growth hormone deficiency	Pituitary short stature	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.97143	1.00000	1.295e-104	1.659e-102	58
Growth hormone deficiency	Sheehan syndrome	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.97143	1.00000	1.295e-104	1.659e-102	58
Atrial fibrillation	Atrial flutter	81	52	UBE4B (3), JMJD1C (1), OPLAH (1), BRWD1 (1), PRRX1 (3), AKAP6 (3), ESR2 (3), FBXO11 (1), GORAB (1), KCNN3 (3), KDM1B (3), MAPT (3)	0.09375	1.00000	1.097e-103	1.397e-101	
Aplasia of the vermis	Joubert syndrome	43	40	KIF7 (1), CPLANE1 (6), CC2D2A (5), HYLS1 (3), RPGRIP1L (5), NPHP3 (1), TMEM67 (6), ARL3 (5), NPHP1 (6), SUFU (5), CEP290 (6), TMEM138 (6)	0.61429	0.79630	1.569e-103	1.987e-101	8
Inflammatory skin disease	Psoriasis	76	13	IFIH1 (3), BLTP1 (1), ANO3 (1), CSMD1 (3), EBF1 (1), ELMO1 (1), EMSY (1), MGMT (1), PTPRN2 (1), RAP1GAP2 (1), RASIP1 (1), SMARCA4 (1)	0.10383	1.00000	5.448e-103	6.861e-101	14
Dilated cardiomyopathy	Hypertrophic cardiomyopathy	94	53	ABCC9 (7), ACTN2 (7), BRAF (1), CACNB2 (1), DMD (6), DSG2 (7), FERMT2 (1), FHOD3 (3), GNPNAT1 (1), JUP (1), MYPN (7), PKP2 (2)	0.21560	0.36719	3.677e-102	4.604e-100	3
Autoimmune disease	Celiac disease	79	11	SH2B3 (1), ARHGAP31 (1), ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), CTSH (1), DAG1 (1), ELMO1 (1), FUT2 (1), ICOS (2), IGF2 (1)	0.24921	0.40933	6.047e-102	7.529e-100	47
Arthrogryposis multiplex congenita	Pena-shokeir syndrome 	44	2	SCN4A (1), GBE1 (1), BLTP1 (1), ACTA1 (1), NAGA (1), ASCC1 (1), PRICKLE1 (1), RAPSN (1), ROR2 (1), SCN8A (1), SPAG16 (1), DYNC1H1 (1)	0.54321	0.84615	8.942e-102	1.107e-99	
Diabetes mellitus type 1	Systemic lupus erythematosus	159	46	RERE (1), GATA4 (1), CAT (2), NOTCH2 (1), SH2B3 (3), IFIH1 (3), BLTP1 (1), ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), BANK1 (4)	0.16341	0.33333	9.619e-102	1.184e-99	47
Cardiovascular disease	Coronary artery disease	190	57	CASZ1 (1), PRDM16 (3), ZFPM2 (1), SH2B3 (3), ABCG8 (3), ACE (3), AGT (3), ALDH1A2 (1), APOB (3), APOE (3), BCAS3 (1), C1GALT1 (1)	0.13709	0.43981	1.368e-101	1.675e-99	34
Age-related macular degeneration	Atrophic macular degeneration	46	10	CFHR1 (3), CFI (4), COL4A3 (1), ABCA1 (1), ALDH1A2 (1), APOE (3), CNN2 (1), EXOC3L2 (1), LIPC (1), MARK4 (1), PILRA (1), TRPM1 (1)	0.48936	0.82143	2.538e-101	3.090e-99	238
Peripheral nervous system disease	Peripheral neuropathy	52	52	DPYD (2), SLC12A6 (2), GFAP (2), ABCA1 (2), CACNA1H (2), ERCC1 (2), MMP3 (2), TCF4 (2), GSTP1 (2), ICAM1 (2), IGF1 (2), IGF1R (2)	0.26804	0.98113	2.696e-101	3.265e-99	304
Intellectual developmental disorder	Non-specific syndromic intellectual disability	154	97	CHD8 (3), CHRNA7 (1), PSMD12 (2), HNRNPU (1), JMJD1C (1), ACTL6A (2), VCP (1), CACNA1D (1), ACTL6B (2), ANK3 (5), CAMK4 (1), CAPZA2 (1)	0.15039	0.41848	5.100e-101	6.141e-99	6
Bladder calculus	Urolithiasis	40	0	KANSL1 (1), ALPL (1), BCAS3 (1), GIPR (1), PRKAG2 (1), STC1 (1), VEGFA (1), SLC30A10 (1), HBB (1), PDILT (1), AP1S3 (1), AHR (1)	0.57143	1.00000	6.460e-101	7.737e-99	180
Astrocytoma	Glioma	138	4	NF1 (1), ADNP (1), HMCN1 (1), TEAD1 (1), AGBL1 (1), ARHGEF28 (1), BRAF (1), C6orf118 (1), CARD11 (1), CTNNA3 (1), DSCAM (1), EFL1 (2)	0.14967	0.45847	8.078e-101	9.623e-99	291
Gastric cancer	Hepatocellular carcinoma	115	14	ANKRD11 (1), HNF1B (1), MAP3K1 (1), SH2B3 (1), TERT (2), TP53 (4), ARHGEF10L (1), ASIP (1), BAD (1), BNC2 (1), CDH13 (2), CELF2 (1)	0.15272	0.52752	9.931e-101	1.177e-98	72
Hereditary hearing loss	Nonsyndromic hearing loss	47	47	ESRRB (3), EYA4 (3), MYO15A (3), OTOF (2), PCDH15 (3), TMC1 (4), HGF (3), RDX (2), GSDME (3), DIAPH1 (3), MYO1A (2), GJB6 (4)	0.38525	0.94000	1.766e-100	2.081e-98	31
Growth hormone deficiency	Kallmann syndrome	34	21	FGF8 (3), DUSP6 (3), IL17RD (3), PROK2 (4), TACR3 (2), PROKR2 (3), TCF12 (2), GH1 (1), CHD7 (4), FGFR1 (4), WDR11 (3), SEMA3E (2)	0.87179	1.00000	9.558e-100	1.109e-97	58
Kallmann syndrome	Pituitary short stature	34	21	FGF8 (3), DUSP6 (3), IL17RD (3), PROK2 (4), TACR3 (2), PROKR2 (3), TCF12 (2), GH1 (1), CHD7 (4), FGFR1 (4), WDR11 (3), SEMA3E (2)	0.87179	1.00000	9.558e-100	1.109e-97	58
Kallmann syndrome	Sheehan syndrome	34	21	FGF8 (3), DUSP6 (3), IL17RD (3), PROK2 (4), TACR3 (2), PROKR2 (3), TCF12 (2), GH1 (1), CHD7 (4), FGFR1 (4), WDR11 (3), SEMA3E (2)	0.87179	1.00000	9.558e-100	1.109e-97	58
Genetic steroid-resistant nephrotic syndrome	Hereditary steroid-resistant nephrotic syndrome	33	33	WT1 (2), NUP107 (2), COL4A3 (2), ACTN4 (2), ARHGAP24 (2), CD2AP (2), MYO1E (2), NUP160 (2), NUP85 (2), PAX2 (2), PTPRO (2), TRPC6 (2)	0.91667	0.97059	6.764e-99	7.804e-97	20
Leber congenital amaurosis	Retinitis pigmentosa	64	60	ABCA4 (6), CNGB3 (2), PRPH2 (7), AIPL1 (6), ALMS1 (2), ADAMTS18 (2), LRAT (6), NBAS (2), NPHP4 (2), PDE6B (6), RIMS1 (2), TTC8 (6)	0.17534	0.88889	5.547e-98	6.367e-96	7
Autism	Obsessive-compulsive disorder	152	35	SOX5 (3), RAI1 (3), RERE (2), COMT (2), ATP2A2 (1), AKAP6 (1), ASAP1 (1), BANK1 (1), BRAF (1), C8orf90 (1), CACNB2 (2), COA8 (1)	0.09832	0.64957	6.150e-98	7.023e-96	
Autoimmune disease	Diabetes mellitus type 1	100	23	SH2B3 (3), ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), CAMK4 (1), CTSH (3), DAG1 (1), ERBB3 (1), FAM76B (1), FUT2 (1), HLA-DQB3 (1)	0.17241	0.49505	6.957e-98	7.903e-96	47
Adenoid cystic carcinoma	Salivary gland neoplasms	43	0	JAG1 (1), BCL11A (1), FAT1 (1), MARCKS (1), MARK2 (1), RBFOX2 (1), SERPINF1 (1), KRT5 (1), ST3GAL4 (1), GAS6 (1), DAPK1 (1), ITGB4 (1)	0.42157	0.97727	9.304e-98	1.051e-95	
Nephrolithiasis	Urolithiasis	51	4	KANSL1 (1), HIBADH (1), ALPL (1), BCAS3 (1), GIPR (1), NBPF3 (1), PRKAG2 (1), SHROOM3 (1), SLC26A1 (5), STC1 (1), VEGFA (1), WDR72 (1)	0.36691	0.73913	1.859e-97	2.090e-95	180
Psoriasis	Systemic lupus erythematosus	186	50	RERE (1), CAT (2), SH2B3 (3), TP63 (1), IFIH1 (3), BLTP1 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BANK1 (4), BTNL2 (1), DAG1 (1)	0.15500	0.28440	5.288e-97	5.915e-95	
Hereditary motor and sensory neuropathies	Hypertrophic neuropathy	38	6	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (2), KIF1B (1), MME (1), TRPV4 (3), DYNC1H1 (1), FIG4 (1), MFN2 (4), NEFL (1)	0.56716	1.00000	1.406e-96	1.549e-94	13
Hereditary motor and sensory neuropathies	Roussy-levy syndrome	38	4	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (1), KIF1B (1), MME (1), TRPV4 (3), DYNC1H1 (1), FIG4 (1), MFN2 (4), NEFL (1)	0.56716	1.00000	1.406e-96	1.549e-94	13
Dejerine-sottas disease	Hereditary motor and sensory neuropathies	38	6	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (3), KIF1B (1), MME (1), TRPV4 (3), DYNC1H1 (1), FIG4 (1), MFN2 (4), NEFL (1)	0.56716	1.00000	1.406e-96	1.549e-94	13
Cone-rod dystrophy	Retinitis pigmentosa	64	62	ABCA4 (7), ATF6 (4), CNGA3 (4), CNGB3 (2), PDE6C (2), ACBD5 (2), ADAM9 (5), IMPG1 (4), IMPG2 (5), PRPH2 (7), AIPL1 (5), CACNA1F (3)	0.17439	0.86486	3.206e-96	3.515e-94	7
Global developmental delay	Neurodevelopmental disorder	159	100	FOXG1 (2), UBE3A (1), ANKRD11 (2), BPTF (4), NFIX (1), SHANK3 (1), PTEN (2), ADNP (2), VCP (2), ATRX (1), ATP1A3 (2), ARID1B (2)	0.13826	0.42973	3.592e-96	3.919e-94	6
Growth hormone deficiency	Panhypopituitarism	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.77273	1.00000	7.302e-96	7.850e-94	58
Panhypopituitarism	Pituitary short stature	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.77273	1.00000	7.302e-96	7.850e-94	58
Panhypopituitarism	Sheehan syndrome	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.77273	1.00000	7.302e-96	7.850e-94	58
Growth hormone deficiency	Pituitary dwarfism	34	1	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (2), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.75556	1.00000	3.213e-95	3.404e-93	58
Pituitary dwarfism	Pituitary short stature	34	1	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (2), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.75556	1.00000	3.213e-95	3.404e-93	58
Pituitary dwarfism	Sheehan syndrome	34	1	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (2), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.75556	1.00000	3.213e-95	3.404e-93	58
Eczema	Psoriasis	143	21	RERE (1), IFIH1 (3), BLTP1 (1), ANKRD55 (1), ANO3 (1), CSMD1 (3), EBF1 (1), ELMO1 (1), EMSY (1), ERBB3 (1), ETS1 (1), FAM177A1 (1)	0.14990	0.39178	3.367e-95	3.550e-93	14
Kallmann syndrome	Panhypopituitarism	35	22	FGF8 (3), DUSP6 (3), HESX1 (2), IL17RD (3), PROK2 (4), TACR3 (2), PROKR2 (3), TCF12 (2), GH1 (1), CHD7 (4), FGFR1 (4), WDR11 (3)	0.74468	0.92105	3.603e-95	3.781e-93	58
Hereditary motor and sensory neuropathies	Peroneal muscle atrophy	38	2	DHTKD1 (1), AARS1 (1), VCP (1), SLC12A6 (1), EGR2 (1), KIF1B (1), MME (1), TRPV4 (3), DYNC1H1 (1), FIG4 (1), MFN2 (4), NEFL (1)	0.55882	0.97436	5.473e-95	5.716e-93	13
Asthma	Eczema	165	28	RERE (1), CEBPA (1), RTEL1 (1), BLTP1 (1), CARD11 (2), CCR7 (1), CSMD1 (1), EMSY (1), ERBB3 (1), ETS1 (1), FADS1 (1), FADS2 (1)	0.13002	0.45205	6.556e-95	6.815e-93	14
Attention deficit hyperactivity disorder	Tourette syndrome	142	9	SOX5 (2), RERE (1), ATP2A2 (1), AKAP6 (1), ANK3 (2), BANK1 (1), BRAF (1), C8orf90 (1), CACNB2 (1), CAMTA1 (1), CSMD1 (1), CTNND1 (1)	0.11620	0.55039	1.687e-94	1.746e-92	
Panhypopituitarism	Pituitary dwarfism	36	2	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (2), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.69231	0.83721	3.934e-94	4.051e-92	58
Growth hormone deficiency	Hypopituitarism	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.72340	1.00000	5.038e-94	5.117e-92	58
Hypopituitarism	Pituitary short stature	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.72340	1.00000	5.038e-94	5.117e-92	58
Hypopituitarism	Sheehan syndrome	34	0	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.72340	1.00000	5.038e-94	5.117e-92	58
Bipolar disorder	Obsessive-compulsive disorder	140	30	SOX5 (1), RERE (1), COMT (2), ATP2A2 (1), AKAP6 (1), BANK1 (1), BRAF (1), C6orf118 (1), C8orf90 (1), CACNA2D3 (1), CACNB2 (2), COA8 (1)	0.10646	0.59829	5.285e-94	5.343e-92	
Alzheimer disease	Gastroesophageal reflux disease	189	12	WT1 (2), APP (6), ABAT (3), ABCG8 (1), ABI3 (2), ACE (2), ADAMTS18 (1), ADARB1 (1), ADGRB3 (1), ADGRL2 (1), AFF3 (1), AKAP6 (1)	0.08185	0.67742	1.565e-93	1.575e-91	2
Growth hormone deficiency	Hypogonadotropic hypogonadism	34	30	FGF8 (5), DUSP6 (5), IL17RD (4), PROK2 (6), TACR3 (6), PROKR2 (7), TCF12 (4), GH1 (1), CHD7 (5), FGFR1 (5), WDR11 (5), SEMA3E (4)	0.70833	1.00000	1.822e-93	1.808e-91	58
Hypogonadotropic hypogonadism	Pituitary short stature	34	30	FGF8 (5), DUSP6 (5), IL17RD (4), PROK2 (6), TACR3 (6), PROKR2 (7), TCF12 (4), GH1 (1), CHD7 (5), FGFR1 (5), WDR11 (5), SEMA3E (4)	0.70833	1.00000	1.822e-93	1.808e-91	58
Hypogonadotropic hypogonadism	Sheehan syndrome	34	30	FGF8 (5), DUSP6 (5), IL17RD (4), PROK2 (6), TACR3 (6), PROKR2 (7), TCF12 (4), GH1 (1), CHD7 (5), FGFR1 (5), WDR11 (5), SEMA3E (4)	0.70833	1.00000	1.822e-93	1.808e-91	58
Amyotrophic lateral sclerosis	Motor neuron disease	61	55	CST3 (2), GFAP (2), ALS2 (7), BCL2L1 (2), CLU (2), LAT (2), LDLR (2), OPTN (7), SETX (6), TIAM1 (3), CTSD (2), PON1 (4)	0.17784	0.85915	2.753e-93	2.721e-91	13
Clear cell renal cell carcinoma	Kidney cancer	43	0	TERT (1), CDKAL1 (1), COL25A1 (1), FANCD2 (1), MAD1L1 (1), SCARB1 (1), TLN2 (1), INSR (1), AKT1 (1), AP3D1 (1), MYEOV (1), SSPN (1)	0.45745	0.78182	4.353e-93	4.283e-91	
Kidney disease	Kidney failure	101	43	INS (2), A4GALT (1), CST3 (3), GATM (3), COL4A3 (1), COL4A4 (1), ACE (2), AGT (2), CHRM3 (1), CLU (2), COL6A3 (2), CPS1 (1)	0.17535	0.40239	6.973e-93	6.830e-91	73
Hypogonadotropic hypogonadism	Kallmann syndrome	35	30	FGF8 (6), DUSP6 (6), IL17RD (5), PROK2 (8), TACR3 (7), PROKR2 (8), PNPLA6 (1), TCF12 (4), GH1 (1), CHD7 (6), FGFR1 (6), WDR11 (6)	0.68627	0.92105	1.297e-92	1.265e-90	58
Celiac disease	Diabetes mellitus type 1	95	33	SH2B3 (3), BLTP1 (1), ACE (2), ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), BTNL2 (1), CTSH (3), DAG1 (1), ETS1 (3), FUT2 (1)	0.16493	0.49223	1.556e-92	1.510e-90	47
Basal cell carcinoma	Non-melanoma skin carcinoma	81	11	ANKRD11 (1), TP53 (3), ASIP (2), ATP8B4 (1), BNC2 (2), CUX1 (1), EPB41L1 (1), FADS2 (1), FARP1 (2), FOXP1 (1), GABBR1 (1), GPX4 (1)	0.19471	0.47929	7.310e-92	7.065e-90	16
Deafness	Hereditary hearing loss	47	47	ESRRB (4), EYA4 (4), MYO15A (4), OTOF (4), PCDH15 (4), TMC1 (4), HGF (4), RDX (4), GSDME (4), DIAPH1 (4), MYO1A (3), GJB6 (5)	0.26705	0.94000	3.598e-91	3.463e-89	31
Hereditary hearing loss	Isolated sensorineural deafness	44	44	ESRRB (2), EYA4 (2), MYO15A (2), OTOF (2), PCDH15 (2), TMC1 (2), HGF (2), RDX (2), GSDME (2), GJB6 (2), SLC26A4 (2), COL11A2 (2)	0.34921	0.88000	2.082e-90	1.995e-88	31
Kallmann syndrome	Pituitary dwarfism	34	22	FGF8 (3), DUSP6 (3), IL17RD (3), PROK2 (4), TACR3 (2), PROKR2 (3), TCF12 (2), GH1 (2), CHD7 (4), FGFR1 (4), WDR11 (3), SEMA3E (2)	0.69388	0.89474	2.366e-90	2.257e-88	58
Congenital cartilage disorder	Osteochondrodysplasias	30	16	HSPG2 (2), SLC26A2 (1), COL2A1 (2), BMPR1B (1), COL11A1 (2), DYM (1), FLNB (1), TRPS1 (1), TRPV4 (2), VEGFA (2), BCL2 (2), FLNA (2)	0.88235	1.00000	3.539e-90	3.362e-88	44
Stevens-johnson syndrome	Toxic epidermal necrolysis	37	3	LTBP3 (1), HLA-C (2), IKZF1 (3), SMC2 (1), SPMIP7 (1), UBE2K (1), UMAD1 (1), ZBTB20 (1), TAP2 (1), POU5F1 (1), ZNF423 (1), HLA-B (3)	0.46835	1.00000	4.095e-90	3.873e-88	
Keratinocyte carcinoma	Skin cancer	46	0	TERT (1), TP53 (1), BNC2 (1), CUX1 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), MYL10 (1), RHOU (1), SMC2 (1), TRPS1 (1)	0.39655	0.59740	4.801e-90	4.522e-88	16
Basal cell carcinoma	Skin cancer	63	8	TERT (2), TP53 (3), TPCN2 (1), ATP8B4 (1), BNC2 (2), CUX1 (1), EMSY (1), FADS2 (1), FAM76B (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1)	0.18052	0.75000	1.751e-89	1.642e-87	16
Chronic obstructive pulmonary disease	Obstructive airway disease	40	39	TP53 (2), SERPINA1 (2), CYP1A2 (2), TRPV4 (2), NOS3 (2), HMOX1 (2), ICAM1 (2), TLR4 (1), TNF (2), IL6 (2), EPHX1 (2), DSP (2)	0.38835	0.95238	3.199e-89	2.987e-87	133
Hypopituitarism	Kallmann syndrome	34	21	FGF8 (3), DUSP6 (3), IL17RD (3), PROK2 (4), TACR3 (2), PROKR2 (3), TCF12 (2), GH1 (1), CHD7 (4), FGFR1 (4), WDR11 (3), SEMA3E (2)	0.66667	0.89474	3.708e-89	3.448e-87	58
Hypopituitarism	Panhypopituitarism	35	1	FGF8 (1), DUSP6 (1), IL17RD (1), PROK2 (1), TACR3 (1), PROKR2 (1), TCF12 (1), GH1 (1), CHD7 (1), FGFR1 (1), WDR11 (1), SEMA3E (1)	0.63636	0.81395	5.675e-89	5.254e-87	58
Diabetic angiopathies	Diabetic peripheral angiopathy	28	16	ASS1 (2), ADCY8 (2), GCH1 (1), HLA-DRB1 (1), SERPINE1 (1), SERPINF1 (2), VEGFA (1), NOS3 (2), AGER (2), CASP3 (2), EPO (1), HMOX1 (2)	0.96552	1.00000	1.761e-88	1.624e-86	63
Cerebrovascular disorder	Stroke	62	56	CASZ1 (3), APOA1 (2), SH2B3 (3), FGA (3), ACE (2), HDAC9 (3), ITGB3 (2), MMP12 (2), SMARCA4 (1), SMOX (2), PLAU (2), F2 (3)	0.17919	0.73810	1.231e-87	1.130e-85	
Bipolar disorder	Tourette syndrome	141	33	SOX5 (2), RERE (1), ATP2A2 (1), AKAP6 (1), ANK3 (3), BANK1 (1), BRAF (1), C8orf90 (1), CACNB2 (2), CSMD1 (2), CTNND1 (1), DCC (1)	0.10538	0.54651	3.398e-87	3.107e-85	
Bipolar disorder	Mood disorder	151	49	RERE (1), COMT (2), HDAC4 (2), ATP2A2 (2), CACNA1D (2), BLTP1 (1), SERPINA1 (2), ADCY8 (2), ANK3 (3), ARHGAP15 (1), CACNA1E (1), DAO (1)	0.11038	0.50671	3.754e-87	3.418e-85	2
Basal cell carcinoma	Skin neoplasms	74	12	TERT (2), TP53 (3), TPCN2 (1), ASIP (2), ATP8B4 (1), BNC2 (2), CUX1 (1), EMSY (1), FADS2 (1), FAM76B (1), FOXP1 (1), GLI2 (1)	0.18546	0.51034	2.180e-86	1.977e-84	16
Astrocytoma	Central nervous system cancer	119	2	ADNP (1), HMCN1 (1), TEAD1 (1), AGBL1 (1), ARHGEF28 (1), C6orf118 (1), CARD11 (1), CTNNA3 (1), DSCAM (1), EPHA4 (1), FAM163A (1), G3BP1 (2)	0.14184	0.39535	5.280e-85	4.769e-83	291
Autoimmune disease	Systemic lupus erythematosus	101	26	SH2B3 (3), ARHGAP31 (1), ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), C12orf42 (1), DAG1 (1), FUT2 (1), HLA-DQB3 (1), ICOS (1), IGF2 (1)	0.13360	0.50000	9.890e-85	8.896e-83	47
Hypogonadotropic hypogonadism	Panhypopituitarism	34	30	FGF8 (5), DUSP6 (5), IL17RD (4), PROK2 (6), TACR3 (6), PROKR2 (7), TCF12 (4), GH1 (1), CHD7 (5), FGFR1 (5), WDR11 (5), SEMA3E (4)	0.59649	0.79070	1.020e-84	9.134e-83	58
Celiac disease	Systemic lupus erythematosus	99	22	SH2B3 (3), ARHGAP31 (1), BLTP1 (1), ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), BTNL2 (1), CSK (3), DAG1 (1), DDX6 (1), ETS1 (4)	0.13218	0.51295	1.802e-84	1.608e-82	47
Autoimmune thyroid disease	Celiac disease	63	11	SH2B3 (1), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), BTNL2 (1), DAG1 (1), ELMO1 (1), FUT2 (1), HLA-DQA1 (4), HLA-DRA (2), HLA-DRB1 (2), ICOS (2)	0.22909	0.43750	4.553e-84	4.046e-82	47
Keratinocyte carcinoma	Non-melanoma skin carcinoma	51	0	ANKRD11 (1), TP53 (1), BNC2 (1), CUX1 (1), EPB41L1 (1), FOXP1 (1), GPX4 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), MYL10 (1), RHOU (1)	0.26020	0.66234	5.189e-84	4.593e-82	16
Neural tube defect	Neural tube defects, x-linked	31	29	SKI (2), INS (2), GLI3 (2), CYP1A2 (2), MTHFD1L (1), PAX3 (2), ZIC5 (2), MTHFR (2), PYY (2), CSF2 (2), NPY1R (2), IFNG (2)	0.63265	1.00000	5.554e-84	4.896e-82	
Hereditary hearing loss	nonsyndromic genetic hearing loss	39	39	ESRRB (2), EYA4 (2), MYO15A (2), OTOF (2), PCDH15 (2), TMC1 (2), HGF (2), RDX (2), GSDME (2), COL11A2 (2), MYO6 (2), CDH23 (2)	0.41489	0.78000	1.462e-83	1.284e-81	31
Coronary artery disease	Hypertension	285	92	CYP17A1 (1), CASZ1 (1), PRDM16 (3), MAP3K1 (1), ZFPM2 (1), APOA1 (2), CELA2A (2), BMPR1B (1), SH2B3 (3), TERT (3), ARHGAP31 (2), TP53 (2)	0.14193	0.24934	7.573e-83	6.623e-81	34
Ankylosing spondylitis	Celiac disease	78	21	SH2B3 (1), ACE (2), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), ETS1 (3), FUT2 (1), HLA-DQA1 (4), HLA-DRB1 (2), IGF2 (1), LRRK2 (1)	0.18182	0.40415	1.273e-82	1.109e-80	
Genetic steroid-resistant nephrotic syndrome	Idiopathic steroid-resistant nephrotic syndrome	28	22	WT1 (2), NUP107 (2), ACTN4 (2), ARHGAP24 (2), CD2AP (2), MYO1E (2), NUP160 (2), NUP85 (2), PAX2 (2), PTPRO (1), TRPC6 (2), PLCE1 (1)	0.80000	1.00000	2.369e-82	2.047e-80	20
Hereditary steroid-resistant nephrotic syndrome	Idiopathic steroid-resistant nephrotic syndrome	28	26	WT1 (2), NUP107 (2), ACTN4 (2), ARHGAP24 (2), CD2AP (2), MYO1E (2), NUP160 (2), NUP85 (2), PAX2 (2), PTPRO (2), TRPC6 (2), PLCE1 (2)	0.80000	1.00000	2.369e-82	2.047e-80	20
Attention deficit hyperactivity disorder	Metabolic syndrome	299	12	SOX5 (1), BPTF (1), RERE (1), COMT (3), JMJD1C (1), ZFPM2 (1), ATP2A2 (1), BMPR1B (1), GBE1 (1), BRWD1 (1), CACNA1D (1), ADARB1 (1)	0.14171	0.27059	2.425e-82	2.088e-80	2
Diabetes mellitus type 2	Schizophrenia	882	346	SOX5 (2), HMGA2 (1), RAI1 (2), HNF1B (6), KANSL1 (1), NFIX (1), DPYD (3), HSPG2 (2), RERE (1), ARVCF (2), COMT (3), HDAC4 (2)	0.18608	0.34711	2.653e-82	2.275e-80	2
Charcot-marie-tooth disease	Dejerine-sottas disease	38	36	DHTKD1 (5), AARS1 (7), VCP (5), SLC12A6 (4), EGR2 (8), KIF1B (6), MME (8), TRPV4 (5), DYNC1H1 (5), FIG4 (7), MFN2 (7), NEFL (7)	0.28571	1.00000	8.098e-82	6.864e-80	13
Charcot-marie-tooth disease	Hypertrophic neuropathy	38	36	DHTKD1 (5), AARS1 (7), VCP (5), SLC12A6 (4), EGR2 (8), KIF1B (6), MME (8), TRPV4 (5), DYNC1H1 (5), FIG4 (7), MFN2 (7), NEFL (7)	0.28571	1.00000	8.098e-82	6.864e-80	13
Charcot-marie-tooth disease	Roussy-levy syndrome	38	36	DHTKD1 (5), AARS1 (7), VCP (5), SLC12A6 (4), EGR2 (8), KIF1B (6), MME (8), TRPV4 (5), DYNC1H1 (5), FIG4 (7), MFN2 (7), NEFL (7)	0.28571	1.00000	8.098e-82	6.864e-80	13
Multiple sclerosis	Rheumatoid arthritis	154	62	SH2B3 (1), RBPJ (3), ABT1 (1), ANKRD55 (3), BTNL2 (2), ELMO1 (1), ETS1 (1), FAM76B (1), GPC5 (1), HLA-DQA1 (2), HLA-DQB3 (1), HLA-DRA (3)	0.14194	0.26736	1.073e-81	9.060e-80	
Heart valve disease	Heart valve prolapse	29	27	NOTCH1 (2), ACE (1), COL18A1 (2), SPP1 (2), CASP3 (2), IL1B (2), PCDHA9 (2), JAK2 (2), CCL2 (2), COL1A1 (2), TIMP1 (2), FGFR1 (2)	0.69048	1.00000	2.625e-81	2.208e-79	391
Charcot-marie-tooth disease	Peroneal muscle atrophy	38	36	DHTKD1 (5), AARS1 (7), VCP (5), SLC12A6 (4), EGR2 (8), KIF1B (6), MME (8), TRPV4 (5), DYNC1H1 (5), FIG4 (7), MFN2 (7), NEFL (7)	0.28358	0.97436	3.139e-80	2.631e-78	13
Intellectual developmental disorder	Nonsyndromic intellectual disability	90	88	CDH15 (7), CLIP1 (4), CRADD (6), CRBN (6), CUX1 (3), DEAF1 (4), EPB41L1 (4), FMN2 (6), GABBR1 (2), GRIA1 (6), GRIK2 (6), GRIN2B (5)	0.10453	0.63830	3.832e-80	3.199e-78	6
Coronary artery disease	Diabetes mellitus type 2	498	116	WT1 (1), SOX5 (1), CYP17A1 (1), RAI1 (1), DPYD (1), CASZ1 (1), SKI (1), ARVCF (1), JMJD1C (1), COLEC11 (1), MAP3K1 (1), ZFPM2 (1)	0.13366	0.43570	7.272e-80	6.048e-78	
Autoimmune thyroid disease	Common variable immunodeficiency	47	2	ADGRL2 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), ICOS (4), IGF2 (1), LRRK2 (1), TENM3 (1), TTC33 (1), IL10 (1), MBL2 (1)	0.27168	0.62667	2.530e-79	2.096e-77	47
Arrhythmogenic right ventricular cardiomyopathy	Dilated cardiomyopathy	47	36	ABCC9 (7), ACTN2 (7), CDH2 (5), CACNB2 (1), CTNNA3 (7), DMD (6), DSG2 (8), JUP (5), PKP2 (7), PLEC (1), PRKAG2 (1), RBM20 (8)	0.16846	0.90385	1.888e-78	1.558e-76	3
Keratinocyte carcinoma	Skin neoplasms	47	3	TERT (1), TP53 (2), BNC2 (1), CUX1 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), MYL10 (1), RHOU (1), SMC2 (1), TRPS1 (1)	0.26705	0.61039	2.482e-78	2.041e-76	16
Diabetes mellitus	Diabetic eye disease	46	5	RREB1 (1), APOE (2), AUTS2 (1), CDKAL1 (2), HLA-DQB3 (1), HMG20A (1), JAZF1 (1), KLHL42 (1), MACF1 (1), MACIR (1), NRXN3 (1), NYAP2 (1)	0.15385	0.95833	3.316e-78	2.717e-76	182
Autism	Intellectual developmental disorder	261	185	SOX5 (3), CHD8 (3), FOXG1 (2), UBE3A (2), CHRNA7 (2), SIN3A (2), ANKRD11 (2), RAI1 (2), NF1 (2), KANSL1 (3), NFIX (2), JMJD1C (3)	0.12972	0.32262	7.315e-78	5.971e-76	
Congenital myasthenic syndrome	Myasthenic syndrome	28	28	CHD8 (2), SCN4A (5), ALG2 (7), AGRN (6), CHRNE (6), COLQ (4), GFPT1 (7), GMPPB (5), PLEC (2), RAPSN (5), RPH3A (2), CHAT (6)	0.66667	0.96552	2.851e-77	2.319e-75	5
Leigh syndrome	Mitochondrial complex deficiency	48	45	NDUFA10 (6), NDUFA12 (5), NDUFA9 (5), NDUFAF2 (5), NDUFAF6 (6), ND2 (1), NDUFS3 (6), NDUFS2 (6), TTC19 (7), LRPPRC (5), NDUFA2 (6), TIMMDC1 (5)	0.26816	0.44860	3.857e-76	3.125e-74	62
Autoimmune disease	Hypothyroidism	79	7	SH2B3 (1), C12orf42 (1), CAMK4 (1), ELMO1 (1), ERBB3 (1), FAM76B (1), GIGYF1 (1), HLA-DQB3 (1), ICOS (1), ITGB3 (1), MACIR (1), MB21D2 (1)	0.15863	0.39109	1.306e-75	1.054e-73	47
Insomnia	Major depressive disorder	360	56	SOX5 (1), PAFAH1B1 (1), BPTF (1), WWOX (1), PER2 (2), BLTP1 (1), ADARB1 (1), ADCK1 (1), AKAP6 (1), APOE (1), ARHGAP15 (1), ARHGEF10L (1)	0.13433	0.33364	1.383e-75	1.113e-73	2
Diabetes mellitus type 1	Hypothyroidism	107	25	RERE (1), SH2B3 (3), IFIH1 (1), BTNL2 (1), CAMK4 (1), ERBB3 (1), ETS1 (2), FADS1 (1), FADS2 (1), FAM76B (1), GLIS3 (3), HLA-C (1)	0.14362	0.28610	1.441e-74	1.155e-72	47
Atrial fibrillation	Heart failure	150	49	YWHAE (1), CASZ1 (3), ZFPM2 (1), ATP2A2 (3), ANKRD26 (1), BRWD1 (1), CACNA1D (1), ACE (2), AGT (3), AKAP6 (3), ALDH1A2 (1), ANKRD31 (1)	0.12669	0.31915	2.290e-74	1.828e-72	34
Ischemic heart disease	Myocardial infarction	84	59	PRDM16 (2), APOA1 (1), SH2B3 (3), TP53 (1), ABCG8 (2), ACE (2), APOB (2), APOE (3), ICA1L (2), JCAD (2), KALRN (2), KCNE2 (2)	0.12594	0.49412	2.965e-74	2.359e-72	
Bladder calculus	Nephrolithiasis	36	3	KANSL1 (1), ALPL (1), BCAS3 (1), GIPR (1), PRKAG2 (1), STC1 (1), VEGFA (1), SLC30A10 (1), PDILT (1), AP1S3 (1), TFAP2B (1), ABCG2 (1)	0.28800	0.90000	3.355e-74	2.660e-72	180
Attention deficit hyperactivity disorder	Insomnia	258	12	SOX5 (1), HMGA2 (1), BPTF (1), JMJD1C (1), CACNA1D (1), ALMS1 (1), ABCB9 (1), ADARB1 (1), AFF3 (1), AKAP6 (1), ARHGAP15 (1), AS3MT (3)	0.13389	0.23911	5.862e-74	4.631e-72	2
Celiac disease	Juvenile idiopathic arthritis	69	13	RUNX1 (1), ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), HLA-DQA1 (4), HLA-DRA (1), HLA-DRB1 (3), IGF2 (1), LRRK2 (1)	0.17647	0.35751	9.422e-74	7.416e-72	
Autoimmune disease	Common variable immunodeficiency	48	4	ADGRL2 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), ICOS (4), IGF2 (1), IKZF1 (4), LRRK2 (1), TENM3 (1), TTC33 (1), IL10 (1)	0.20870	0.64000	1.574e-73	1.234e-71	47
complex neurodevelopmental disorder	Intellectual developmental disorder	79	79	CHD8 (4), HNRNPU (2), CACNA1D (2), CHD2 (2), CNTNAP2 (2), CUL3 (2), EPB41L1 (4), GRIA1 (6), GRIK2 (6), GRIN2B (5), KCNQ2 (2), KMT5B (5)	0.09305	0.66949	7.713e-73	6.028e-71	6
Celiac disease	Common variable immunodeficiency	47	5	ADGRL2 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), ICOS (4), IGF2 (1), LRRK2 (1), TENM3 (1), TTC33 (1), IL10 (1), CRB1 (1)	0.21171	0.62667	2.341e-72	1.823e-70	47
Limb girdle muscular dystrophy	Muscular dystrophy	30	28	DAG1 (2), GMPPB (3), PLEC (2), SGCA (5), HMGCR (4), CRPPA (3), TRAPPC11 (6), ANO5 (4), TNPO3 (3), SGCD (6), LMNA (1), TTN (3)	0.50000	0.78947	3.592e-72	2.788e-70	131
Coronary artery disease	Stroke	139	51	SOX5 (1), CASZ1 (2), PRDM16 (3), APOA1 (2), SH2B3 (3), ANKRD26 (1), ACE (2), ALDH1A2 (1), ANKRD31 (1), APOB (3), APOC1 (1), BAZ1B (1)	0.10467	0.43034	3.708e-72	2.867e-70	34
Non-melanoma skin carcinoma	Skin cancer	47	0	TP53 (1), ATP8B4 (1), BNC2 (1), CUX1 (1), FADS2 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRB1 (1), ICOS (1), MYL10 (1)	0.22705	0.55952	4.998e-72	3.851e-70	16
Metabolic syndrome	Schizophrenia	466	162	SOX5 (2), DPYD (3), HSPG2 (2), RERE (1), COMT (3), ZFPM2 (1), PDE4D (2), ATP2A2 (2), BMPR1B (1), SH2B3 (2), DOCK6 (1), RBPJ (1)	0.13791	0.35764	1.270e-70	9.720e-69	2
Multiple sclerosis	Systemic lupus erythematosus	142	45	RREB1 (1), SH2B3 (3), TERT (3), AFF1 (1), ANKRD55 (1), BTNL2 (1), DOCK10 (1), ETS1 (4), FUT2 (1), HLA-DQA1 (3), HLA-DQB3 (1), HLA-DRA (3)	0.13039	0.24653	1.268e-70	9.720e-69	
Colorectal adenoma	Colorectal cancer	88	1	BMP2 (1), RTEL1 (1), TERT (1), FAM193A (1), FMN1 (1), HLA-DQA1 (1), HLA-DRB1 (1), MAP2K5 (1), NALF1 (1), NXN (1), PLCL1 (1), PREX1 (1)	0.08560	0.63309	1.381e-70	1.053e-68	21
Autoimmune thyroid disease	Juvenile idiopathic arthritis	61	11	RERE (2), ADGRL2 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), HLA-DQA1 (2), HLA-DRA (2), HLA-DRB1 (2), IGF2 (1), LRRK2 (1), RHOH (1)	0.17429	0.42361	1.796e-70	1.365e-68	
Hearing loss	Hereditary hearing loss	46	46	ESRRB (3), EYA4 (3), MYO15A (3), OTOF (3), PCDH15 (4), TMC1 (2), HGF (2), RDX (3), GSDME (3), DIAPH1 (2), MYO1A (2), GJB6 (4)	0.11735	0.92000	3.587e-70	2.717e-68	31
Ciliary dyskinesia	Congenital nasopharyngeal atresia	30	28	DNAI2 (6), HYDIN (7), NME8 (8), DNAH5 (7), DNAAF2 (7), RSPH3 (6), CCDC39 (7), CCDC40 (6), DNAAF1 (6), DNAH11 (7), DNAI1 (5), ODAD1 (7)	0.32967	1.00000	4.366e-70	3.295e-68	9
Liver cirrhosis	Nonalcoholic fatty liver disease	78	37	CAT (2), PTEN (2), CDH2 (1), SERPINA1 (3), ACE (2), APOC1 (1), APOE (1), COMMD1 (3), CYP1A2 (2), FARP1 (1), HLA-DQA1 (2), HLA-DRB1 (2)	0.15507	0.29545	9.775e-70	7.352e-68	288
Ankylosing spondylitis	Common variable immunodeficiency	51	7	ADGRL2 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), IGF2 (1), IKZF1 (4), LRRK2 (1), TENM3 (1), TTC33 (1), IL10 (1), CRB1 (1)	0.15089	0.68000	1.290e-69	9.667e-68	
Lissencephaly	Macrogyria	27	6	PAFAH1B1 (5), CTNNA2 (2), DYNC1H1 (1), CASK (1), ARL3 (1), NDE1 (5), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1)	0.50943	0.93103	4.229e-69	3.159e-67	124
Developmental and epileptic encephalopathy	genetic developmental and epileptic encephalopathy	36	36	WWOX (6), ABAT (3), CACNA1E (6), CUX2 (6), PACS2 (6), SIK1 (6), SYNJ1 (6), SZT2 (7), GLUL (6), RYR3 (3), ITPA (6), GABRB3 (6)	0.16290	1.00000	1.904e-68	1.418e-66	
Combined oxidative phosphorylation deficiency	Mitochondrial disease	46	45	MICOS13 (5), MRPS22 (5), AARS2 (7), MRPL39 (4), MTRFR (7), NARS2 (6), ATP5F1A (5), TRIT1 (5), MRPS23 (4), SLC25A26 (6), EARS2 (4), FARS2 (7)	0.17358	0.67647	3.615e-68	2.682e-66	62
Diabetic eye disease	Diabetic retinopathy	38	4	APOE (2), CDKAL1 (2), HMG20A (1), JAZF1 (1), KLHL42 (1), MACF1 (1), MACIR (1), NRXN3 (1), NYAP2 (1), TCF7L2 (1), TRPS1 (1), PPARG (1)	0.21714	0.79167	6.586e-68	4.871e-66	182
Asthma	Psoriasis	197	54	RERE (1), COLEC10 (1), CAT (2), RUNX1 (1), BLTP1 (1), APOE (3), BTNL2 (1), CSMD1 (3), CTNND2 (1), EMSY (1), ERBB3 (1), ETS1 (1)	0.12289	0.26949	3.425e-67	2.525e-65	14
Marfan syndrome	Thoracic aortic aneurysm and aortic dissection	28	27	FBN1 (8), NOTCH1 (2), JAG1 (2), COL5A1 (2), FBN2 (4), PRKG1 (5), SLC2A10 (2), TGFB2 (5), THSD4 (3), FLNA (3), BGN (5), SMAD3 (6)	0.49123	0.68293	4.645e-67	3.412e-65	50
Cardiomyopathy	Left ventricular noncompaction cardiomyopathy	37	15	PRDM16 (1), ACTN2 (1), CTNNA3 (1), DMD (2), DSG2 (1), EYA4 (1), JUP (1), MYPN (1), PKP2 (1), RBM20 (1), DSP (1), MYH6 (3)	0.15041	0.97368	5.504e-67	4.030e-65	3
Hypertension	Myocardial infarction	180	78	CYP17A1 (1), PRDM16 (1), GATA4 (3), ZFPM2 (1), APOA1 (2), CAT (2), ATP2A2 (2), SH2B3 (3), RUNX1 (1), TP53 (2), SPI1 (1), COL4A4 (2)	0.11613	0.31034	1.553e-66	1.134e-64	34
Coronary artery disease	Heart failure	161	57	NFIA (1), CASZ1 (1), ZFPM2 (1), SH2B3 (3), ANKRD26 (1), AMPD1 (1), TP53 (1), ACE (2), AGT (3), ALDH1A2 (1), ANKRD31 (1), APOB (3)	0.11081	0.34255	1.562e-66	1.136e-64	34
Diabetes mellitus	Diabetic retinopathy	63	14	INS (2), APOB (2), APOE (2), BMP8A (1), CDKAL1 (2), GIPR (2), HMG20A (1), JAZF1 (1), KLHL42 (1), MACF1 (1), MACIR (1), MAU2 (1)	0.15829	0.38415	2.673e-66	1.938e-64	182
Epilepsy	Generalized epilepsy	44	7	CHRNA7 (3), AUTS2 (3), CHRM3 (1), CUX2 (1), GABRA2 (1), GRM3 (1), HTR1A (1), OGA (1), PCDH7 (1), RBFOX1 (3), RPH3A (1), TRIM36 (1)	0.17255	0.67692	5.374e-66	3.883e-64	223
Osteogenesis imperfecta	Osteoporosis-pseudoglioma syndrome	28	28	ALPL (2), BMP1 (6), CCDC134 (5), SERPINF1 (6), TENT5A (6), COL1A1 (7), PLOD2 (2), FKBP10 (6), COL1A2 (7), CRTAP (7), KDELR2 (5), WNT1 (7)	0.45902	0.71795	1.136e-65	8.155e-64	127
Bone fragility with contractures, arterial rupture, and deafness	Osteogenesis imperfecta	28	28	ALPL (2), BMP1 (6), CCDC134 (5), SERPINF1 (6), TENT5A (6), COL1A1 (7), PLOD2 (2), FKBP10 (6), COL1A2 (7), CRTAP (7), KDELR2 (5), WNT1 (7)	0.45902	0.71795	1.136e-65	8.155e-64	127
Autism	Tourette syndrome	131	29	SOX5 (3), RERE (2), ATP2A2 (1), AKAP6 (1), ANK3 (2), BANK1 (1), BRAF (1), C8orf90 (1), CACNB2 (2), CSMD1 (3), CSMD3 (3), CTNND1 (1)	0.08234	0.50775	1.140e-65	8.156e-64	
Crohn disease	Multiple sclerosis	140	48	WWOX (1), GLI3 (1), SH2B3 (1), CEBPA (1), RBPJ (3), ANKRD55 (1), BTNL2 (1), CDHR3 (1), CSMD1 (1), ELMO1 (1), ERN1 (3), ETS1 (1)	0.12422	0.24306	1.594e-65	1.137e-63	14
Heart disease	Myocardial ischemia	65	39	ABCG8 (2), AGT (2), APOC1 (1), APOE (2), CDH13 (1), ELL (1), ENSA (3), HDAC9 (1), ICA1L (2), IL6R (1), JCAD (2), KCNE2 (2)	0.13742	0.44521	3.634e-65	2.583e-63	73
Multiple sclerosis	Ulcerative colitis	132	50	WWOX (1), GLI3 (1), SH2B3 (1), CEBPA (1), RBPJ (3), ANKRD55 (1), BTNL2 (2), ELMO1 (1), ERN1 (3), ETS1 (1), FOXP1 (1), FUT2 (1)	0.12500	0.22917	4.717e-65	3.342e-63	14
Barrett esophagus	Esophageal adenocarcinoma	29	1	ALDH1A2 (1), APOB (1), BCL3 (1), CRTC1 (1), FOXP1 (2), KHDRBS2 (1), MSRA (1), OR5V1 (1), PLCL1 (1), TMOD1 (1), DPYSL2 (1), DPP6 (1)	0.36709	0.82857	6.083e-65	4.297e-63	
Endometrial cancer	Endometrial neoplasms	50	8	NF1 (1), HNF1B (2), BPTF (1), SH2B3 (1), BCL11A (1), CACNA2D3 (1), H4C8 (1), LINGO2 (1), MSH6 (2), NTM (1), TAFA5 (1), CYP19A1 (1)	0.19455	0.37879	7.869e-65	5.541e-63	72
Oligoarticular juvenile idiopathic arthritis	Polyarticular juvenile idiopathic arthritis	32	8	RUNX1 (1), ANKRD55 (2), CLIC4 (1), IL6R (1), JAZF1 (1), UBE2L3 (1), FAS (1), IL2 (1), RUNX3 (1), ATXN2 (1), HLA-DQB1 (2), IRF1 (1)	0.18713	1.00000	1.086e-64	7.624e-63	320
Insomnia	Metabolic syndrome	268	2	SOX5 (1), BPTF (1), DPYD (1), JMJD1C (1), RREB1 (1), CACNA1D (1), ADAMTS18 (1), ADARB1 (1), ADGRB3 (1), AFF3 (1), AGAP1 (1), AGBL1 (1)	0.12671	0.24838	2.019e-64	1.413e-62	2
Autoimmune disease	Juvenile idiopathic arthritis	64	11	ADGRL2 (1), AFF3 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), IGF2 (1), LRRK2 (1), RHOH (1), TENM3 (1), TTC33 (1), UBE2L3 (1)	0.15802	0.31683	2.741e-64	1.912e-62	
Diabetes mellitus type 2	Obesity	482	157	SOX5 (1), RAI1 (3), DPYD (3), RERE (1), COMT (2), INS (3), GNAT2 (1), PDE4D (1), PRKAR1A (2), RBPJ (2), ABCA1 (2), ADGRL2 (1)	0.12708	0.40369	4.610e-64	3.205e-62	2
Cleft palate	Complete unilateral cleft lip	28	24	FGF8 (2), FGFR3 (2), KIF7 (2), TP63 (2), FGF10 (2), IRF6 (2), SPRY2 (2), NOS3 (2), TYMS (2), FGFR2 (2), MSX1 (2), PTCH1 (2)	0.40580	0.77778	5.439e-64	3.770e-62	136
Systemic lupus erythematosus	Systemic sclerosis	71	24	ARHGAP31 (1), AHNAK2 (1), BANK1 (4), CSK (3), DDX6 (1), DGKQ (1), HLA-DQA1 (3), HLA-DRA (1), HLA-DRB1 (4), JAZF1 (4), TNIP1 (5), IL1B (1)	0.09972	0.55469	1.133e-63	7.826e-62	
Coronary artery disease	Metabolic syndrome	276	53	SOX5 (1), DPYD (1), SKI (1), JMJD1C (1), COLEC11 (1), MAP3K1 (1), ZFPM2 (1), APOA1 (3), CELA2A (3), BMPR1B (1), SH2B3 (3), DOCK6 (1)	0.12713	0.24147	1.167e-63	8.040e-62	
Cleft lip	Cleft palate	28	24	FGF8 (2), FGFR3 (2), KIF7 (2), TP63 (2), FGF10 (2), IRF6 (2), SPRY2 (2), NOS3 (2), TYMS (2), FGFR2 (2), MSX1 (2), PTCH1 (2)	0.40000	0.75676	2.232e-63	1.532e-61	136
Asthma	Rheumatoid arthritis	182	82	PRDM16 (1), CAT (2), RUNX1 (3), BLTP1 (1), AFF3 (3), BTNL2 (2), CEP170B (1), DDX6 (3), DPP4 (1), EMSY (1), EPHA4 (1), ERBB3 (1)	0.11750	0.27492	2.633e-63	1.802e-61	
Lipidoses	Lipoidosis	19	19	SCD (2), LSS (2), FADS2 (2), SLC2A3 (2), PPARG (2), SERPINA3 (2), ASAH1 (2), HPN (2), AP1S1 (2), ASNS (2), FABP1 (2), INHBE (2)	0.95000	1.00000	3.374e-63	2.302e-61	
Common variable immunodeficiency	Juvenile idiopathic arthritis	46	4	ADGRL2 (1), ANKRD55 (1), ATXN2L (1), DAG1 (1), FUT2 (1), IGF2 (1), LRRK2 (1), TENM3 (1), TTC33 (1), IL10 (1), CRB1 (1), HLA-DQB1 (2)	0.15541	0.61333	4.836e-63	3.290e-61	
Diabetes mellitus type 2	Hypertension	467	154	HMGA2 (1), CYP17A1 (1), BPTF (1), CYP11B2 (2), CASZ1 (1), RERE (1), COMT (2), INS (3), MAP3K1 (1), GATA4 (1), ZFPM2 (1), APOA1 (3)	0.12410	0.40644	5.122e-63	3.473e-61	
Arrhythmogenic right ventricular cardiomyopathy	Cardiomyopathy	40	27	ABCC9 (1), ACTN2 (1), CTNNA3 (7), DMD (2), DSG2 (6), JUP (5), PKP2 (7), PRKAG2 (3), RBM20 (1), TRPM4 (1), DSP (4), MYH6 (3)	0.15564	0.76923	6.248e-63	4.224e-61	3
Cataract	Congenital cataract	40	38	LSS (6), BFSP2 (5), CRYBB2 (6), IARS2 (1), MAF (4), PITX3 (5), PGRMC1 (2), VIM (4), CRYAA (6), EPHA2 (6), PAX6 (2), CRYBA4 (5)	0.18018	0.66667	2.379e-62	1.603e-60	51
Insomnia	Schizophrenia	395	122	SOX5 (2), HMGA2 (1), PAFAH1B1 (2), DPYD (3), CUL9 (1), WWOX (2), PRKG2 (1), SPI1 (1), CACNA1D (1), ALMS1 (1), ADARB1 (2), ADGRB3 (1)	0.12244	0.36608	2.682e-62	1.802e-60	2
Developmental disability	Neurodevelopmental disorder	82	47	CHD8 (3), UBE3A (1), ANKRD11 (2), RAI1 (1), SHANK3 (2), PTEN (2), ADNP (2), CTSF (1), ATRX (1), ARID1B (2), CELF4 (2), DEAF1 (4)	0.08200	0.57343	3.584e-62	2.400e-60	6
Major depressive disorder	Obesity	359	116	SOX5 (1), RERE (1), COMT (1), DMRT1 (1), WWOX (1), PDE4D (2), ABT1 (1), AGT (1), AKAP6 (1), APOE (3), ARHGEF10L (1), AS3MT (1)	0.12840	0.30067	6.213e-62	4.149e-60	2
Bipolar disorder	Depression	123	39	COMT (2), SEC24C (1), INS (2), APP (1), GFAP (1), ACE (1), ADRA1A (1), CNTNAP2 (2), CTNND2 (2), DAO (1), DISC1 (1), DLG2 (1)	0.08932	0.44086	6.307e-62	4.199e-60	2
Hypertrophy	Left ventricular disease	30	30	ACTA1 (2), ACE (2), AGT (2), CKM (2), HBEGF (2), PTPRF (2), REN (2), ADRB3 (2), PPP3R1 (2), CTNNB1 (2), GDF15 (2), AHR (2)	0.34884	0.61224	6.461e-62	4.289e-60	3
Asthma	Crohn disease	184	58	GLI3 (1), CEBPA (1), BLTP1 (1), BTNL2 (1), CCR7 (3), CDHR3 (3), CNTNAP2 (1), CSMD1 (1), EMSY (1), ERBB3 (1), ETS1 (1), FADS1 (1)	0.11683	0.26667	9.502e-62	6.288e-60	14
Hypothyroidism	Systemic lupus erythematosus	109	21	RERE (1), SH2B3 (3), TERT (3), IFIH1 (3), AFF1 (1), BTNL2 (1), C12orf42 (1), ETS1 (4), FAM171A1 (1), FKBPL (1), GABBR1 (1), HLA-DQA1 (3)	0.11848	0.29144	9.631e-62	6.354e-60	47
Eczema	Respiratory system disease	73	2	RERE (1), CEBPA (1), RTEL1 (1), CARD11 (1), CCR7 (1), EMSY (1), ETS1 (1), FADS1 (1), FADS2 (1), HINT1 (1), HLA-DQA1 (1), HLA-DRB1 (1)	0.13670	0.30290	4.231e-61	2.783e-59	14
Jeune thoracic dystrophy	Short rib dysplasia-polydactyly syndrome	22	15	EVC2 (1), IFT81 (1), NEK1 (3), IFT43 (1), IFT80 (2), CEP120 (2), DYNC2H1 (4), DYNC2I1 (4), DYNC2I2 (4), DYNC2LI1 (2), DYNLT2B (2), IFT140 (2)	0.61111	0.91667	4.572e-61	2.999e-59	19
Inflammatory bowel disease	Multiple sclerosis	135	35	WWOX (1), GLI3 (1), SH2B3 (1), CEBPA (1), RBPJ (3), ABT1 (1), ANKRD55 (1), BTNL2 (1), ELMO1 (1), ETS1 (1), FOXP1 (1), FUT2 (1)	0.11926	0.23438	5.642e-61	3.689e-59	14
Cannabis abuse	Substance abuse	62	8	MCCC2 (1), BNC1 (1), BARHL2 (1), CACNA1A (1), CADM2 (1), CTTNBP2 (1), ERC2 (1), FOXP1 (1), FOXP2 (1), GABRA2 (2), H4C8 (1), IGSF11 (1)	0.10858	0.53448	8.531e-61	5.562e-59	2
Cone dystrophy	Retinitis pigmentosa	37	36	ABCA4 (6), CNGA3 (2), CNGB3 (4), GNAT2 (4), PDE6C (7), PDE6H (2), PRPH2 (7), CACNA1F (2), ABHD12 (2), MKKS (2), PCDH15 (2), PDE6B (6)	0.10335	0.97368	1.642e-60	1.068e-58	7
Diabetes mellitus type 2	Major depressive disorder	678	180	SOX5 (1), CYP17A1 (1), HNF1B (6), KANSL1 (1), BPTF (1), CASZ1 (1), RERE (1), KIF15 (1), COMT (2), SEC24C (2), HDAC4 (2), ZFPM2 (1)	0.15540	0.34592	7.589e-60	4.919e-58	2
Diabetes mellitus	Heart failure	85	21	INS (2), CAT (2), ANKRD26 (1), AKAP6 (1), ALDH1A2 (1), ANKRD31 (1), APOB (1), APOC1 (3), APOE (2), BAZ1B (1), BCL3 (1), CRTC1 (1)	0.12463	0.28716	1.757e-59	1.135e-57	
Non-melanoma skin carcinoma	Skin neoplasms	48	4	TP53 (2), ASIP (2), ATP8B4 (1), BNC2 (1), CUX1 (1), FADS2 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRB1 (1), ICOS (1)	0.17978	0.33103	1.806e-59	1.164e-57	16
Macular dystrophy	Retinitis pigmentosa	39	34	ABCA4 (6), ATF6 (2), CNGA3 (2), CNGB3 (2), BEST1 (6), IMPG1 (4), IMPG2 (5), PRPH2 (7), CACNA1F (2), COL18A1 (1), CTNNA1 (3), PDE6B (6)	0.10773	0.88636	1.860e-59	1.195e-57	7
Congenital heart disease	Tetralogy of fallot	45	43	ANKRD11 (2), TBX1 (5), NR2F2 (4), GATA4 (6), NOTCH1 (2), HAND1 (4), MCTP2 (2), NKX2-6 (5), NRP1 (3), RBFOX2 (5), ROBO1 (3), TBX5 (2)	0.18595	0.39474	1.962e-59	1.257e-57	41
Anorexia nervosa	Eating disorder	43	1	WWOX (1), AKAP6 (2), ALDH4A1 (1), ASB3 (1), BLTP3A (1), CAMK1D (1), CSMD1 (1), ERBB3 (1), FOXP1 (1), MGMT (1), NALF1 (1), NCKIPSD (1)	0.15302	0.59722	2.415e-59	1.543e-57	75
Dilated cardiomyopathy	Left ventricular noncompaction cardiomyopathy	35	28	PRDM16 (4), ACTN2 (7), CTNNA3 (1), DMD (6), DSG2 (7), EYA4 (5), JUP (1), MYPN (7), PKP2 (2), RBM20 (8), DSP (7), MYH6 (7)	0.12635	0.92105	4.350e-59	2.770e-57	3
Major depressive disorder	Substance abuse	209	58	SOX5 (1), BPTF (1), MCCC2 (1), PER2 (2), PER3 (2), ADCY8 (2), ADCYAP1R1 (1), AKAP6 (1), ALCAM (1), ANO4 (1), ARHGAP15 (1), AUTS2 (1)	0.09215	0.40504	8.411e-59	5.342e-57	2
Diabetes mellitus type 2	Insomnia	438	25	SOX5 (1), HMGA2 (1), NF1 (1), BPTF (1), DPYD (1), JMJD1C (1), RREB1 (1), CACNA1D (2), BLTP1 (1), ALMS1 (1), ABCB9 (1), ADAMTS18 (1)	0.11768	0.40593	1.095e-58	6.932e-57	2
Melanoma	Squamous cell carcinoma	123	38	ANKRD11 (1), NF1 (2), RREB1 (1), MAP3K1 (1), COL2A1 (2), NOTCH2 (2), PTEN (2), RTEL1 (1), TERT (5), TP53 (2), TPCN2 (1), ASIP (2)	0.11162	0.28276	1.653e-58	1.044e-56	
Diabetic neuropathy	Diabetic retinopathy	54	22	INS (2), ACE (2), AGT (2), CDKAL1 (2), FSTL5 (1), HLA-DRB1 (2), HMG20A (1), JAZF1 (1), MACF1 (1), MACIR (1), NRXN3 (1), NYAP2 (1)	0.15652	0.32927	2.329e-58	1.466e-56	182
Heart failure	Stroke	87	26	CASZ1 (2), SH2B3 (2), ANKRD26 (1), ACE (2), ALDH1A2 (1), ANKRD31 (1), APOB (1), APOC1 (3), BAZ1B (1), BCL3 (1), FADS1 (1), FADS2 (1)	0.12306	0.26935	2.621e-58	1.645e-56	34
Juvenile idiopathic arthritis	Polyarticular juvenile idiopathic arthritis	32	8	RUNX1 (1), ANKRD55 (2), CLIC4 (1), IL6R (1), JAZF1 (1), UBE2L3 (1), FAS (1), IL2 (1), RUNX3 (1), ATXN2 (1), HLA-DQB1 (2), IRF1 (1)	0.11985	1.00000	5.855e-58	3.666e-56	320
Erythematosquamous dermatosis	Seborrheic dermatitis	21	0	FOXP1 (1), HERC2 (1), KLK6 (1), TAP2 (1), RALY (1), IRF4 (1), IL23R (1), IL2RA (1), TYK2 (1), ZMIZ1 (1), POLI (1), TYR (1)	0.53846	0.95455	1.695e-57	1.058e-55	263
Arrhythmogenic right ventricular cardiomyopathy	Hypertrophic cardiomyopathy	38	31	ABCC9 (1), ACTN2 (3), CACNB2 (1), DMD (1), DSG2 (6), JUP (5), PKP2 (7), PRKAG2 (2), RBM20 (3), TRPM4 (1), DSP (5), MYH6 (4)	0.14022	0.73077	2.074e-57	1.291e-55	3
Congenital brain malformation	Congenital hypoplasia of part of brain	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.94444	1.00000	2.334e-57	1.441e-55	124
Congenital brain malformation	Microgyria	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.94444	1.00000	2.334e-57	1.441e-55	124
Congenital hypoplasia of part of brain	Microgyria	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.94444	1.00000	2.334e-57	1.441e-55	124
Intellectual developmental disorder	Intellectual disability	57	35	FOXG1 (2), HDAC4 (2), ANK3 (5), AP4M1 (3), CACNA1G (3), CRBN (5), GPT2 (1), GRIN2B (4), HERC2 (3), KCNN2 (1), KDM5B (5), NOVA2 (1)	0.06876	0.75000	2.572e-57	1.583e-55	6
Aneurysm	Aortic aneurysm	24	5	FBN1 (3), APOE (1), CSMD1 (1), KCNH5 (1), NCKAP5 (1), LRP1 (1), ZNF335 (1), SMAD3 (5), ADAMTS8 (1), CAST (1), CDKN1A (1), CELSR2 (1)	0.36364	0.88889	5.637e-57	3.460e-55	50
Crohn disease	Eczema	105	15	CEBPA (1), IFIH1 (1), BLTP1 (1), ANKRD55 (1), CCR7 (3), CDC42SE2 (1), CDH13 (1), CSMD1 (1), ELMO1 (1), EMSY (1), ERBB3 (1), ETS1 (1)	0.11041	0.28767	2.044e-56	1.251e-54	14
Cerebellar ataxia	Spinocerebellar ataxia	38	32	WWOX (5), CACNA1A (6), CACNA1G (5), PEX6 (2), PRDX3 (4), SETX (6), ESR1 (1), PDYN (6), ITPR1 (7), SYT14 (5), SYNE1 (3), VPS13D (5)	0.20994	0.36538	2.791e-56	1.704e-54	92
Insomnia	Neurotic disorder	139	0	SOX5 (1), PAFAH1B1 (1), SPI1 (1), AGBL1 (1), ARHGAP15 (1), ARHGEF10L (1), AS3MT (1), B3GALT1 (1), BNC2 (1), CADM2 (1), CAMTA1 (1), CSMD1 (1)	0.10102	0.31954	3.555e-56	2.164e-54	2
Microcephaly	Primary microcephaly	28	27	LMNB1 (5), CENPE (7), ZNF335 (3), DPP6 (2), CDK6 (6), ASPM (7), CDK5RAP2 (7), MCPH1 (8), CIT (6), WDR62 (8), CEP135 (6), ANGPT2 (1)	0.24561	0.80000	3.799e-56	2.306e-54	137
Congenital neurologic anomalies	Intellectual developmental disorder	67	21	FOXG1 (2), ANKRD11 (1), WWOX (1), FGD1 (1), ACTB (1), PTEN (2), ABCD1 (1), ALDH18A1 (1), ATRX (1), ANK3 (5), AP4M1 (2), ARSA (1)	0.07809	0.58261	8.025e-56	4.859e-54	6
Arrhythmogenic right ventricular cardiomyopathy	Left ventricular noncompaction cardiomyopathy	25	12	ACTN2 (1), CTNNA3 (7), DMD (1), DSG2 (6), JUP (5), PKP2 (7), RBM20 (1), DSP (4), MYH6 (1), RYR2 (3), SCN5A (3), LDB3 (2)	0.37879	0.65789	8.233e-56	4.971e-54	3
Male infertility single gene azoospermia	Spermatogenic failure	38	38	NR5A1 (6), DMRT1 (2), KLHL10 (6), STAG3 (5), XRCC2 (6), SPAG17 (6), C14orf39 (5), RPL10L (5), MSH5 (5), FANCM (5), TDRD9 (5), DNHD1 (5)	0.20652	0.35514	1.042e-55	6.275e-54	11
Diabetes mellitus	Diabetic neuropathy	63	17	INS (2), CAT (2), NOTCH2 (1), ANKH (1), ASIP (1), CDKAL1 (2), HLA-DQA1 (1), HMG20A (1), JAZF1 (1), MACF1 (1), MACIR (1), NRXN3 (1)	0.13462	0.26923	4.833e-55	2.902e-53	182
Developmental and epileptic encephalopathy	Epilepsy	57	54	FOXG1 (3), UBE3A (2), GABRD (3), HNRNPU (4), WWOX (6), ATP1A2 (6), ATP1A3 (5), CELSR1 (2), CHD2 (5), CNTNAP2 (3), CUX2 (6), GABRA2 (6)	0.14358	0.25909	4.917e-55	2.944e-53	
Cone-rod dystrophy	Optic atrophy	38	18	ABCA4 (7), CNGA3 (3), CNGB3 (1), PDE6C (1), PRPH2 (4), CACNA1F (2), ALMS1 (1), USH2A (1), CRB1 (1), GUCY2D (5), PROM1 (6), RPGRIP1 (6)	0.17431	0.51351	9.094e-55	5.432e-53	7
Metabolic syndrome	Obesity	268	73	SOX5 (1), DPYD (3), RERE (1), COMT (2), INS (2), GNAT2 (1), PDE4D (1), RBPJ (1), ABCA1 (2), ABCG8 (2), ADGRL2 (1), AGAP1 (1)	0.12018	0.22446	1.008e-54	6.003e-53	2
Short rib dysplasia-polydactyly syndrome	Short-rib thoracic dysplasia	19	19	IFT81 (5), NEK1 (6), IFT43 (3), IFT80 (3), CEP120 (4), DYNC2H1 (5), DYNC2I1 (7), DYNC2I2 (7), DYNC2LI1 (5), DYNLT2B (4), IFT140 (4), IFT172 (4)	0.65517	0.82609	1.268e-54	7.533e-53	19
Cardiovascular disease	Myocardial infarction	103	32	PRDM16 (1), ZFPM2 (1), SH2B3 (3), ABCG8 (1), ACE (3), AGT (3), APOB (3), APOE (3), BCAS3 (1), C1GALT1 (1), CDH13 (1), CSK (1)	0.11319	0.23843	2.870e-54	1.700e-52	34
Myositis	Systemic sclerosis	33	7	DGKQ (1), HLA-DQA1 (2), HLA-DRA (1), HLA-DRB1 (2), TNIP1 (2), NCF2 (1), DRD4 (1), HLA-DQB1 (2), ATG5 (1), IL12RB2 (1), IRF5 (2), PHTF1 (1)	0.21019	0.54098	4.074e-54	2.407e-52	22
Jeune thoracic dystrophy	Short-rib thoracic dysplasia	20	19	IFT81 (5), NEK1 (4), IFT43 (3), IFT80 (2), CEP120 (3), DYNC2H1 (2), DYNC2I1 (4), DYNC2I2 (5), DYNC2LI1 (4), DYNLT2B (4), IFT140 (3), IFT172 (4)	0.54054	0.86957	4.443e-54	2.618e-52	19
Depression	Mood disorder	66	9	COMT (1), DAO (1), DISC1 (1), FOXP2 (2), HTR1A (1), HTR3A (1), LSAMP (2), NTF3 (1), NTRK2 (1), NTRK3 (1), PROK2 (1), RELN (2)	0.12891	0.23656	1.745e-53	1.025e-51	2
Genetic steroid-resistant nephrotic syndrome	Nephrotic syndrome	29	20	WT1 (4), NUP107 (4), COL4A3 (1), ACTN4 (1), ARHGAP24 (1), FAT1 (1), MYO1E (1), NUP160 (5), NUP85 (3), PAX2 (1), PTPRO (4), TRPC6 (1)	0.16860	0.85294	1.799e-53	1.054e-51	20
Melanoma	Skin neoplasms	59	15	NOTCH2 (2), TERT (5), TP53 (2), TPCN2 (1), ASIP (2), BNC2 (1), ERBB4 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), ICOS (1)	0.11303	0.40690	2.159e-53	1.262e-51	16
Cancer	Diabetes mellitus	64	5	HNF1B (2), RREB1 (1), ANKRD26 (1), ALDH1A2 (1), ANKRD31 (1), APOB (1), APOC1 (1), ASIP (2), BAZ1B (1), BCL3 (1), EBF1 (1), FADS1 (1)	0.12955	0.24521	4.272e-53	2.491e-51	
Congenital brain malformation	Hydranencephaly	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.73913	1.00000	6.145e-53	3.554e-51	124
Congenital hypoplasia of part of brain	Hydranencephaly	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.73913	1.00000	6.145e-53	3.554e-51	124
Hydranencephaly	Microgyria	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.73913	1.00000	6.145e-53	3.554e-51	124
Intellectual developmental disorder, x-linked	X-linked complex neurodevelopmental disorder	26	26	FRMPD4 (6), NLGN4X (2), GRIA3 (5), ARX (6), THOC2 (4), PTCHD1 (2), CNKSR2 (6), AP1S2 (3), IL1RAPL1 (5), SYN1 (5), FTSJ1 (6), IQSEC2 (6)	0.26263	0.74286	7.744e-53	4.467e-51	129
Developmental disability	Intellectual developmental disorder	71	37	CHD8 (3), UBE3A (1), ANKRD11 (1), RAI1 (2), SHANK3 (2), PTEN (2), ADNP (1), ATRX (1), ARID1B (1), AUTS2 (3), DEAF1 (3), FBXO11 (1)	0.08050	0.49650	1.567e-52	9.019e-51	6
Non-hodgkins lymphoma	Non-melanoma skin carcinoma	43	0	ANKRD11 (1), TP53 (1), ASIP (1), BNC2 (1), EPB41L1 (1), FARP1 (1), FOXP1 (1), HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRB1 (1), OR5V1 (1), RHOU (1)	0.16412	0.31852	2.825e-52	1.621e-50	
Obesity	Schizophrenia	402	185	SOX5 (2), RAI1 (3), DPYD (3), RERE (1), COMT (3), CUL9 (1), WWOX (2), PDE4D (2), RBPJ (1), ABCA1 (1), ABT1 (1), ADGRL2 (1)	0.12058	0.33668	3.189e-52	1.826e-50	2
Breast neoplasms	Prostatic neoplasms	113	2	CYP17A1 (1), COMT (1), MAP3K1 (1), PTEN (1), CHEK2 (2), TERT (1), TP53 (1), AKT2 (1), ARID1A (1), ATP7B (1), CST6 (1), EGFR (1)	0.10950	0.21857	8.250e-52	4.710e-50	4
Septopreoptic holoprosencephaly	Syntelencephaly	15	15	FGF8 (2), CDON (2), GLI2 (2), SHH (2), PTCH1 (2), SIX3 (2), GAS1 (2), ZIC2 (2), DLL1 (2), STIL (2), DISP1 (2), CRIPTO (2)	0.93750	1.00000	2.030e-51	1.156e-49	110
Leber congenital amaurosis	Optic atrophy	36	11	ABCA4 (1), CNGB3 (1), PRPH2 (2), ALMS1 (1), NBAS (1), NPHP4 (1), USH2A (1), CRB1 (6), GUCY2D (6), LCA5 (7), PROM1 (1), RP1 (1)	0.16514	0.50000	2.664e-51	1.513e-49	7
Cone-rod dystrophy	Macular dystrophy	26	15	ABCA4 (7), ATF6 (3), CNGA3 (3), CNGB3 (1), IMPG1 (3), IMPG2 (2), PRPH2 (5), CACNA1F (2), PDE6B (1), USH2A (1), CRB1 (1), CRX (8)	0.27957	0.59091	3.547e-51	2.009e-49	7
Alzheimer disease	Schizophrenia	624	235	HMGA2 (1), CHRNA7 (1), HNF1B (1), KANSL1 (1), NFIX (1), HSPG2 (2), RERE (1), ARVCF (2), WWOX (2), ZFPM2 (1), NCSTN (1), PDE4D (2)	0.15087	0.28133	4.237e-51	2.394e-49	2
Atrial flutter	Cardiac arrhythmia	32	5	PRRX1 (1), AKAP6 (1), ESR2 (3), GORAB (1), KCNN3 (1), MAPT (1), TBX5 (1), CAV1 (1), AOPEP (1), FAM13B (1), FGF5 (1), LRMDA (1)	0.21622	0.39506	5.292e-51	2.983e-49	3
Cone dystrophy	Cone-rod dystrophy	25	17	ABCA4 (7), CNGA3 (3), CNGB3 (3), PDE6C (7), PRPH2 (4), CACNA1F (2), PDE6B (1), USH2A (1), CRB1 (1), GUCY2D (5), RPGRIP1 (6), NMNAT1 (2)	0.28409	0.65789	5.937e-51	3.338e-49	7
Insomnia	Substance abuse	145	7	SOX5 (1), BPTF (1), PER2 (2), CACNA1D (1), ALMS1 (1), AFF3 (1), AKAP6 (1), ARHGAP15 (1), AUTS2 (1), BNC2 (1), CADM2 (1), CAMTA1 (1)	0.09993	0.28101	8.924e-51	5.004e-49	2
Attention deficit hyperactivity disorder	Neurotic disorder	134	10	SOX5 (1), RERE (1), GBE1 (1), ARHGAP15 (1), AS3MT (3), BNC2 (1), CADM2 (1), CAMTA1 (1), CELF2 (1), CELF4 (1), CSMD1 (1), CTNNA3 (1)	0.09524	0.30805	9.152e-51	5.119e-49	2
Hereditary steroid-resistant nephrotic syndrome	Nephrotic syndrome	28	28	WT1 (5), NUP107 (5), COL4A3 (2), ACTN4 (2), ARHGAP24 (2), MYO1E (2), NUP160 (6), NUP85 (4), PAX2 (2), PTPRO (5), TRPC6 (2), PLCE1 (7)	0.16185	0.82353	9.597e-51	5.354e-49	20
Autism	Neurodevelopmental disorder	241	206	CHD8 (4), FOXG1 (2), UBE3A (2), CHRNA7 (3), SIN3A (2), ANKRD11 (2), RAI1 (2), NFIX (2), NFIA (2), RERE (6), SPEN (2), JMJD1C (3)	0.11152	0.25693	1.064e-50	5.923e-49	
Atrial flutter	Cardioembolic stroke	32	0	PRRX1 (1), ESR2 (1), GORAB (1), KCNN3 (1), TBX5 (1), TNFSF12-TNFSF13 (1), CAV1 (1), KCNJ5 (1), AOPEP (1), FAM13B (1), FGF5 (1), LRMDA (1)	0.21192	0.39506	1.668e-50	9.257e-49	
Cardiovascular disease	Myocardial ischemia	83	59	PRDM16 (2), SH2B3 (2), ABCG8 (2), ACE (3), AGT (3), APOB (3), APOE (3), CDH13 (1), DDAH1 (1), HDAC9 (1), KCNE2 (2), LDLR (2)	0.11201	0.21228	1.048e-49	5.806e-48	
Congenital hypoplasia of part of brain	Macrogyria	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.56667	1.00000	1.211e-49	6.655e-48	124
Congenital brain malformation	Macrogyria	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.56667	1.00000	1.211e-49	6.655e-48	124
Macrogyria	Microgyria	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.56667	1.00000	1.211e-49	6.655e-48	124
Calcinosis	Heart valve prolapse	21	21	NOTCH1 (2), COL18A1 (2), SPP1 (2), CASP3 (2), IL1B (2), JAK2 (2), CCL2 (2), COL1A1 (2), TIMP1 (2), FCGR1A (2), IL18 (2), LCN2 (2)	0.38182	0.72414	1.764e-49	9.668e-48	391
Basal cell carcinoma	Melanoma	77	21	ANKRD11 (1), RAI1 (2), TERT (5), TP53 (3), TPCN2 (1), ASIP (2), BNC2 (2), EPB41L1 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1)	0.11224	0.23547	2.381e-49	1.302e-47	16
Hyperlipidemia	Hyperlipoproteinemia	28	24	ABCA1 (3), ABCG8 (2), APOB (3), APOC2 (2), APOE (6), LDLR (3), LIPC (6), NOS3 (2), ADRB3 (2), GCG (2), HMGCR (2), HSPA1B (1)	0.18182	0.70000	2.521e-49	1.375e-47	57
Cutaneous squamous cell carcinoma	Skin cancer	25	0	BNC2 (1), FOXP1 (1), HLA-DQA1 (1), ICOS (1), TRPS1 (1), WEE1 (1), ZNF143 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), AHR (1)	0.25510	0.65789	2.588e-49	1.408e-47	16
Focal glomerulosclerosis	Nephrotic syndrome	32	14	WT1 (4), COL4A5 (1), COL4A4 (1), ACTN4 (1), AGT (2), ARHGAP24 (1), LAMB2 (3), MYO1E (1), PAX2 (1), PTPRO (4), SERPINE1 (2), TRPC6 (1)	0.16667	0.56140	3.756e-49	2.039e-47	20
Biliary cirrhosis	Liver cirrhosis	46	43	HLA-DQA1 (1), NOS3 (2), NFE2L2 (2), RELA (2), HLA-DQB1 (2), VDR (1), ALB (2), HIF1A (2), ATG5 (3), TGFB1 (2), HLA-DPB1 (1), CLEC16A (3)	0.13256	0.35938	4.558e-49	2.468e-47	288
Metabolic syndrome	Substance abuse	157	8	SOX5 (1), BPTF (1), GBE1 (1), BRWD1 (1), CACNA1D (1), ADGRL2 (1), AFF3 (1), AHCYL1 (1), AKAP6 (1), ALCAM (1), ARHGAP15 (1), AUTS2 (1)	0.09441	0.30426	5.384e-49	2.908e-47	2
Hydranencephaly	Macrogyria	18	1	CASK (1), ARL3 (1), NDE1 (3), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1)	0.52941	0.81818	6.893e-49	3.714e-47	124
Microphthalmia	Microphthalmos	21	21	RARB (7), TENM3 (4), SHH (5), PRSS56 (3), PAX6 (2), SOX2 (3), STRA6 (3), OTX2 (3), PORCN (2), RAX (3), VAX1 (4), VSX2 (6)	0.38889	0.58333	9.450e-49	5.080e-47	52
Melanoma	Non-melanoma skin carcinoma	59	10	ANKRD11 (1), TP53 (2), ASIP (2), BNC2 (1), CDH15 (1), EPB41L1 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), ICOS (1), RHOU (1)	0.10806	0.34911	9.693e-49	5.198e-47	16
Atherosclerosis	Myocardial ischemia	50	39	APOA1 (2), ABCA1 (2), AGT (2), APOB (2), APOC1 (1), APOE (3), HDAC9 (3), LDLR (3), SERPINE1 (2), SMARCA4 (1), TCF7L2 (3), VEGFA (2)	0.10846	0.42017	1.648e-48	8.813e-47	73
Semilobar holoprosencephaly	Syntelencephaly	15	15	FGF8 (2), CDON (2), GLI2 (2), SHH (2), PTCH1 (2), SIX3 (2), GAS1 (2), ZIC2 (2), DLL1 (2), STIL (2), DISP1 (2), CRIPTO (2)	0.78947	1.00000	1.656e-48	8.818e-47	110
Semilobar holoprosencephaly	Septopreoptic holoprosencephaly	15	15	FGF8 (2), CDON (2), GLI2 (2), SHH (2), PTCH1 (2), SIX3 (2), GAS1 (2), ZIC2 (2), DLL1 (2), STIL (2), DISP1 (2), CRIPTO (2)	0.78947	1.00000	1.656e-48	8.818e-47	110
Hypertrophic cardiomyopathy	Long qt syndrome	42	27	BRAF (1), CACNB2 (1), DSG2 (1), JUP (1), PKP2 (1), RBM20 (3), TRPM4 (1), POMC (2), DSP (2), KCNJ2 (2), KCNJ5 (7), CACNA1C (6)	0.13249	0.41176	2.030e-48	1.078e-46	3
Avascular necrosis of bone	Osteonecrosis of medial femoral condyle	14	0	CAT (1), COL2A1 (1), TRPV4 (1), NOS3 (1), F2 (1), GSTT1 (1), GSTM1 (1), PLAT (1), F5 (1), IL23R (1), ABCB1 (1), MMP2 (1)	0.93333	1.00000	2.082e-48	1.103e-46	23
Holoprosencephaly	Semilobar holoprosencephaly	17	17	FGF8 (3), CDON (6), GLI2 (6), SHH (5), PTCH1 (7), SIX3 (6), FGFR1 (3), GAS1 (5), ZIC2 (6), DLL1 (3), STIL (3), STAG2 (4)	0.54839	0.94444	2.178e-48	1.151e-46	110
Distal hereditary motor neuropathy	Distal spinal muscular atrophy	20	18	SETX (3), TRPV4 (3), VRK1 (3), SIGMAR1 (4), DCTN1 (7), DYNC1H1 (2), NEFL (1), BSCL2 (6), HSPB1 (6), BAG3 (4), PLEKHG5 (3), GARS1 (6)	0.41667	0.64516	2.685e-48	1.416e-46	13
Transitional cell carcinoma	Urinary bladder neoplasms	26	0	FGFR3 (1), TP53 (1), ARID1A (1), ESR2 (1), KMT2C (1), TACC3 (1), IGFBP3 (1), TNF (1), PTGS2 (1), CREBBP (1), CSF3 (1), GPX1 (1)	0.17333	0.78788	4.401e-48	2.315e-46	4
Cardiovascular disease	Heart failure	88	34	CASZ1 (1), ZFPM2 (1), SH2B3 (1), CACNA1D (1), ACE (3), ADRA1D (3), AGT (3), ALDH1A2 (1), APOB (3), APOE (3), CACNB2 (1), CRTC1 (1)	0.10798	0.20370	5.250e-48	2.755e-46	34
Long qt syndrome	Ventricular fibrillation	25	10	CACNB2 (1), DSG2 (1), JUP (1), KCNE2 (7), PKP2 (1), RBM20 (1), TRPM4 (1), DSP (1), DPP6 (3), KCNJ2 (2), CACNA1C (6), MYH6 (1)	0.21930	0.69444	7.916e-48	4.144e-46	3
Joubert syndrome	Meckel-gruber syndrome	22	21	RPGRIP1 (2), CC2D2A (5), RPGRIP1L (5), NPHP3 (2), TMEM67 (6), CEP290 (6), TMEM138 (6), TMEM216 (6), TMEM231 (5), TMEM237 (6), KIAA0586 (5), TCTN1 (7)	0.31429	0.66667	9.099e-48	4.752e-46	8
Combined immunodeficiency disease	Immunodeficiency	28	28	CARD11 (7), ORAI1 (4), RELB (6), ZAP70 (7), IRF4 (5), MSN (7), TFRC (4), MST1 (2), TNFRSF4 (7), BCL11B (4), IL6ST (4), STIM1 (5)	0.17949	0.63636	1.174e-47	6.116e-46	10
Microform holoprosencephaly	Semilobar holoprosencephaly	15	15	FGF8 (2), CDON (2), GLI2 (2), SHH (2), PTCH1 (2), SIX3 (2), FGFR1 (2), GAS1 (2), ZIC2 (2), DLL1 (2), DISP1 (2), CRIPTO (2)	0.75000	0.93750	2.650e-47	1.377e-45	110
Charcot-marie-tooth disease	Distal hereditary motor neuropathy	26	25	SETX (4), SORD (7), TRPV4 (6), SIGMAR1 (3), BICD2 (1), DCTN1 (7), DYNC1H1 (6), FIG4 (7), NEFL (7), ATP7A (3), LMNA (5), BSCL2 (6)	0.18182	0.72222	3.166e-47	1.642e-45	13
Hypertension	Major depressive disorder	321	117	CYP17A1 (1), BPTF (1), CASZ1 (1), RERE (1), COMT (1), ZFPM2 (1), CAT (3), ATP2A2 (2), SH2B3 (1), TERT (2), AMPD3 (1), ACE (2)	0.11510	0.27937	3.889e-47	2.012e-45	
Congenital ear anomaly	Deafness	26	22	CEACAM16 (3), MYO15A (3), OTOF (3), PCDH15 (3), USH2A (1), TMC1 (3), ADGRV1 (1), SLC26A4 (3), COL11A2 (3), MYO6 (3), CDH23 (3), MYO7A (3)	0.14607	0.83871	4.024e-47	2.077e-45	31
Mood disorder	Neurotic disorder	72	9	PAFAH1B1 (1), KANSL1 (1), RERE (1), ARHGAP15 (1), CACNA1E (1), CAMTA1 (1), CELF4 (1), DCC (1), EMB (1), ERBB4 (1), FOXP2 (1), GABBR1 (1)	0.10876	0.24161	6.271e-47	3.229e-45	2
Aortic aneurysm	Thoracic aortic aneurysm and aortic dissection	23	19	SKI (2), FBN1 (7), FBN2 (3), PRKG1 (8), SLC2A10 (1), TGFB2 (6), THSD4 (5), FLNA (3), ELN (3), SMAD3 (6), ACTA2 (6), FOXE3 (7)	0.28395	0.56098	1.480e-46	7.604e-45	50
Basal cell carcinoma	Cancer	61	14	ANKRD11 (1), TERT (2), TP53 (3), ARHGEF10L (1), ASIP (2), BNC2 (2), EPB41L1 (1), FADS2 (1), FAM76B (1), FARP1 (2), FOXP1 (1), HLA-C (1)	0.11553	0.23372	2.001e-46	1.026e-44	
Autoimmune thyroid disease	Thyroid disease	29	5	SH2B3 (1), FAM76B (1), HLA-DQA1 (2), ICOS (1), INPP5B (1), PDE10A (1), SAMD5 (1), SASH1 (1), SPATA13 (1), ATXN2 (1), HLA-DQB1 (2), BACH2 (1)	0.17160	0.54717	4.668e-46	2.387e-44	
Biliary cholangitis	Liver cirrhosis	46	43	HLA-DQA1 (1), NOS3 (2), NFE2L2 (2), RELA (2), HLA-DQB1 (2), VDR (1), ALB (2), HIF1A (2), ATG5 (3), TGFB1 (2), HLA-DPB1 (1), CLEC16A (3)	0.12568	0.31293	7.881e-46	4.020e-44	288
Connective tissue disease	Mixed connective tissue disease	22	0	HDAC4 (1), FBN1 (1), CDH4 (1), MYRIP (1), PTPRN2 (1), HHEX (1), PCLO (1), KCNMB2 (1), SLC4A10 (1), PTGIS (1), BASP1 (1), SPOP (1)	0.18333	0.91667	7.994e-46	4.068e-44	44
Aplasia of the vermis	Meckel-gruber syndrome	21	15	ATP6V0A2 (1), CC2D2A (5), RPGRIP1L (5), NPHP3 (2), TMEM67 (6), CEP290 (5), TMEM138 (1), TMEM216 (6), TMEM231 (5), TMEM237 (2), KIAA0586 (1), TCTN1 (3)	0.31343	0.63636	1.079e-45	5.480e-44	8
Desbuquois syndrome	Osteoporosis-pseudoglioma syndrome	38	2	ALPL (1), BMP1 (1), CCDC134 (1), GORAB (1), NBAS (1), SERPINF1 (1), TENT5A (1), XYLT1 (3), COL1A1 (1), SLC10A7 (1), PLOD2 (1), FKBP10 (1)	0.06563	0.77551	1.918e-45	9.697e-44	127
Bone fragility with contractures, arterial rupture, and deafness	Desbuquois syndrome	38	1	ALPL (1), BMP1 (1), CCDC134 (1), GORAB (1), NBAS (1), SERPINF1 (1), TENT5A (1), XYLT1 (3), COL1A1 (1), SLC10A7 (1), PLOD2 (1), FKBP10 (1)	0.06563	0.77551	1.918e-45	9.697e-44	127
Congestive ophthalmopathy	Myopathic ophthalmopathy	13	0	SCD (1), ICAM1 (1), IL10 (1), IL2 (1), TNF (1), PTGS2 (1), IL3 (1), CTLA4 (1), IL23R (1), PTPN22 (1), IL1RN (1), TSHR (1)	0.92857	1.00000	2.288e-45	1.154e-43	153
Congenital cataract	Nuclear cataract	18	18	CRYBB2 (3), CRYAA (4), EPHA2 (3), NHS (3), GJA8 (4), CRYGC (4), WFS1 (3), CRYBB1 (4), CRYAB (3), UNC45B (3), CRYBB3 (4), CRYGD (3)	0.29508	1.00000	2.526e-45	1.271e-43	51
Epilepsy	Partial epilepsy	30	7	CACNA1H (1), CUX2 (1), GABRA2 (1), GRM3 (1), OGA (1), PCDH7 (1), PTPRD (1), RPH3A (1), SCN8A (2), TRIM36 (1), ALDH2 (1), CDKL5 (2)	0.12097	0.68182	3.499e-45	1.756e-43	223
Epilepsy	Intellectual developmental disorder	81	63	FOXG1 (2), UBE3A (2), CHRNA7 (2), ANKRD11 (2), HNRNPU (2), WWOX (1), ARID1B (2), AUTS2 (4), CHD2 (2), CNTNAP2 (2), CPA6 (2), GRIA1 (5)	0.08420	0.34764	3.695e-45	1.851e-43	
Microform holoprosencephaly	Syntelencephaly	14	14	FGF8 (2), CDON (2), GLI2 (2), SHH (2), PTCH1 (2), SIX3 (2), GAS1 (2), ZIC2 (2), DLL1 (2), DISP1 (2), CRIPTO (2), FOXH1 (2)	0.77778	0.93333	3.747e-45	1.864e-43	110
Microform holoprosencephaly	Septopreoptic holoprosencephaly	14	14	FGF8 (2), CDON (2), GLI2 (2), SHH (2), PTCH1 (2), SIX3 (2), GAS1 (2), ZIC2 (2), DLL1 (2), DISP1 (2), CRIPTO (2), FOXH1 (2)	0.77778	0.93333	3.747e-45	1.864e-43	110
Muscle eye brain disease	Walker-warburg syndrome	14	14	DAG1 (3), GMPPB (4), LARGE1 (3), CRPPA (3), POMGNT2 (3), POMT1 (4), POMT2 (4), POMGNT1 (4), FKRP (4), FKTN (4), B3GALNT2 (3), B4GAT1 (3)	0.77778	0.93333	3.747e-45	1.864e-43	40
Ciliopathy	Joubert syndrome	25	25	ZNF423 (4), CC2D2A (6), RPGRIP1L (6), TMEM67 (7), SUFU (6), TMEM138 (7), TMEM216 (7), TMEM231 (6), CEP120 (7), TBC1D32 (3), CEP41 (6), IFT74 (6)	0.23810	0.43103	5.146e-45	2.554e-43	8
Hypertrophic cardiomyopathy	Left ventricular noncompaction cardiomyopathy	29	18	ACTN2 (3), DMD (1), DSG2 (1), JUP (1), MYPN (2), PKP2 (1), RBM20 (3), DSP (2), MYH6 (4), RYR2 (2), SCN5A (1), LDB3 (1)	0.10902	0.76316	7.147e-45	3.539e-43	3
Calcinosis	Heart valve disease	21	21	NOTCH1 (2), COL18A1 (2), SPP1 (2), CASP3 (2), IL1B (2), JAK2 (2), CCL2 (2), COL1A1 (2), TIMP1 (2), FCGR1A (2), IL18 (2), LCN2 (2)	0.31343	0.51220	1.085e-44	5.363e-43	391
Congenital brain malformation	Lissencephaly	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.33333	1.00000	2.298e-44	1.128e-42	124
Congenital hypoplasia of part of brain	Lissencephaly	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.33333	1.00000	2.298e-44	1.128e-42	124
Lissencephaly	Microgyria	17	0	CASK (1), ARL3 (1), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1), INPP5E (1)	0.33333	1.00000	2.298e-44	1.128e-42	124
Craniofacial abnormalities	Desbuquois syndrome	59	57	HSPG2 (2), SKI (2), FGF8 (2), COLEC11 (1), SOX9 (2), FGD1 (2), SLC26A2 (2), COL2A1 (2), BMPR1B (2), LTBP3 (2), ACTB (2), NOTCH1 (2)	0.08872	0.37821	2.761e-44	1.352e-42	
Arrhythmogenic right ventricular cardiomyopathy	Long qt syndrome	26	18	CACNB2 (1), CTNNA3 (7), DSG2 (6), JUP (5), PKP2 (7), RBM20 (1), TRPM4 (1), DSP (4), MYH6 (1), RYR1 (1), LMNA (2), RYR2 (3)	0.20155	0.50000	3.048e-44	1.490e-42	3
X-linked complex neurodevelopmental disorder	X-linked intellectual disability	22	22	FRMPD4 (3), GRIA3 (4), ARHGEF9 (3), ARX (3), THOC2 (5), PTCHD1 (4), CNKSR2 (4), AP1S2 (4), IL1RAPL1 (4), FTSJ1 (3), IQSEC2 (3), PCDH19 (3)	0.25000	0.62857	4.427e-44	2.158e-42	129
Dilated cardiomyopathy	Long qt syndrome	40	28	BRAF (1), CACNB2 (1), CTNNA3 (1), DSG2 (7), JUP (1), KCNE2 (7), PKP2 (2), RBM20 (8), TBX5 (2), TRPM4 (1), DSP (7), DPP6 (1)	0.11905	0.39216	6.850e-44	3.325e-42	3
Bipolar disorder	Obesity	238	100	SOX5 (1), RERE (1), COMT (2), INS (2), WWOX (1), AGT (1), AKAP6 (1), APOE (3), AS3MT (1), AUTS2 (1), C6orf118 (1), C8orf90 (1)	0.10932	0.19933	6.845e-44	3.325e-42	2
Cytochrome c oxidase deficiency	Mitochondrial complex deficiency	20	20	COX5A (5), LRPPRC (2), SCO2 (5), SCO1 (6), COA3 (4), COA5 (3), COA6 (3), COX15 (5), SURF1 (5), COX14 (5), FASTKD2 (3), PET100 (5)	0.16667	1.00000	1.077e-43	5.217e-42	62
Aplasia of the vermis	Ciliopathy	24	23	WDPCP (3), CC2D2A (3), RPGRIP1L (3), TMEM67 (3), SUFU (3), TMEM138 (3), TMEM216 (3), TMEM231 (3), CEP120 (3), IFT172 (3), CEP41 (2), IFT74 (3)	0.23529	0.44444	1.362e-43	6.584e-42	8
Brugada syndrome	Long qt syndrome	27	22	CACNB2 (6), PKP2 (4), SLMAP (4), TBX5 (3), TRPM4 (4), DSP (1), KCNJ2 (2), CACNA1C (7), KCNH2 (7), KCNQ1 (7), RYR2 (1), SCN5A (8)	0.19424	0.42857	1.421e-43	6.852e-42	3
Holoprosencephaly	Syntelencephaly	15	15	FGF8 (3), CDON (6), GLI2 (6), SHH (5), PTCH1 (7), SIX3 (6), GAS1 (5), ZIC2 (6), DLL1 (3), STIL (3), DISP1 (4), CRIPTO (4)	0.50000	1.00000	1.574e-43	7.559e-42	110
Holoprosencephaly	Septopreoptic holoprosencephaly	15	15	FGF8 (3), CDON (6), GLI2 (6), SHH (5), PTCH1 (7), SIX3 (6), GAS1 (5), ZIC2 (6), DLL1 (3), STIL (3), DISP1 (4), CRIPTO (4)	0.50000	1.00000	1.574e-43	7.559e-42	110
Dentin dysplasia	Dentinogenesis imperfecta	14	1	SLC24A4 (1), AMBN (1), AMELX (1), DLX3 (1), ENAM (1), FAM20A (1), FAM83H (1), ITGB6 (1), KLK4 (1), LAMB3 (1), MMP20 (1), ODAPH (1)	0.70000	0.87500	1.698e-43	8.136e-42	390
Charcot-marie-tooth disease	Peripheral neuropathy	39	33	DHTKD1 (5), AARS1 (7), SLC12A6 (4), HINT1 (4), MME (8), SBF2 (7), NGF (1), DCTN1 (2), DYNC1H1 (5), KIF5A (4), MFN2 (7), NEFH (5)	0.13636	0.29545	1.730e-43	8.271e-42	
Respiratory system disease	Ulcerative colitis	72	8	CEBPA (1), RTEL1 (1), CCR7 (1), EMSY (1), ETS1 (1), FADS1 (1), FADS2 (1), HINT1 (1), HLA-DQA1 (1), HLA-DRB1 (3), IKZF1 (3), IL6R (1)	0.09219	0.29876	1.769e-43	8.440e-42	14
Breast neoplasms	Colorectal neoplasms	73	1	DPYD (1), BMP2 (1), COL7A1 (1), CHEK2 (2), TP53 (1), ABCA8 (1), ARID1A (1), ATP7B (1), EGFR (1), ESR2 (1), EXO1 (1), GPX4 (1)	0.09918	0.25086	2.044e-43	9.729e-42	4
Melanoma	Ovarian serous carcinoma	66	18	ANKRD11 (1), RREB1 (1), MAP3K1 (1), ACD (2), RTEL1 (1), TERT (5), TP53 (2), ASIP (2), BNC2 (1), CDH15 (1), EPB41L1 (1), FOXP1 (1)	0.10313	0.24444	2.494e-43	1.184e-41	
Diabetes mellitus	Stroke	61	9	ANKRD26 (1), ALDH1A2 (1), ANKRD31 (1), APOB (1), APOC1 (1), BAZ1B (1), BCL3 (1), CDKAL1 (2), FADS1 (1), FADS2 (1), LIPC (1), MAML3 (1)	0.10912	0.20608	2.878e-43	1.364e-41	
Peripheral vascular disease	Vascular disease	20	0	CSTPP1 (1), HDAC9 (1), NFAT5 (1), TCF7L2 (1), ATXN2 (1), CHRNA3 (1), TWIST1 (1), ABO (1), SLC19A2 (1), CELSR2 (1), LPA (1), PSRC1 (1)	0.30303	0.60606	3.088e-43	1.460e-41	
Age-related macular degeneration	Macular degeneration	26	16	ABCA4 (2), HMCN1 (3), CFI (4), APOE (3), VEGFA (2), C2 (3), C3 (3), PON1 (1), GSTM1 (1), RAD51B (1), CFB (3), CRP (1)	0.20800	0.38806	3.102e-43	1.464e-41	238
Hydranencephaly	Lissencephaly	18	1	CASK (1), ARL3 (1), NDE1 (6), TMEM216 (1), TMEM237 (1), SEPSECS (1), KIAA0586 (1), KIAA0753 (1), CHMP1A (1), IFT74 (1), TUBB3 (1), AMPD2 (1)	0.32727	0.81818	3.578e-43	1.685e-41	124
Immune system disease	Myasthenia gravis	20	5	FAM76B (1), HLA-DQA1 (2), HLA-DRB1 (2), TNIP1 (1), TRPM1 (1), ATXN2 (1), POMC (2), TBX18 (1), CEP43 (1), CTLA4 (1), HLA-B (2), PTPN22 (2)	0.30769	0.52632	8.026e-43	3.771e-41	1
Cardiomyopathy	Long qt syndrome	38	18	CTNNA3 (1), DSG2 (1), JUP (1), KCNE2 (7), PKP2 (1), RBM20 (1), TRPM4 (1), POMC (2), DSP (1), CACNA1C (6), MYH6 (3), TMPO (1)	0.12298	0.37255	1.233e-42	5.781e-41	3
Cutaneous squamous cell carcinoma	Skin neoplasms	25	2	BNC2 (1), FOXP1 (1), HLA-DQA1 (1), ICOS (1), TRPS1 (1), WEE1 (1), ZNF143 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), AHR (1)	0.15723	0.65789	1.239e-42	5.799e-41	16
Congestive heart failure	Kidney failure	46	20	INS (1), CAT (2), TP53 (1), GATM (2), ACE (2), AGT (1), APOE (1), EPHX2 (1), PRKAG2 (2), SERPINE1 (2), VEGFA (1), NOS3 (1)	0.11948	0.25698	1.790e-42	8.356e-41	
Breast neoplasms	Lung neoplasms	68	3	WT1 (1), DPYD (1), NOTCH2 (1), PTEN (1), CHEK2 (2), TERT (1), TP53 (1), JAG1 (1), EGFR (1), ERBB3 (1), RARB (1), SPP1 (1)	0.09659	0.26772	1.959e-42	9.127e-41	4
Holoprosencephaly	Microform holoprosencephaly	15	15	FGF8 (3), CDON (6), GLI2 (6), SHH (5), PTCH1 (7), SIX3 (6), FGFR1 (3), GAS1 (5), ZIC2 (6), DLL1 (3), DISP1 (4), CRIPTO (4)	0.48387	0.93750	2.517e-42	1.170e-40	110
Connective tissue disease	Desbuquois syndrome	51	51	HSPG2 (2), HDAC4 (2), SOX9 (2), TRIP11 (2), SLC26A2 (2), COL2A1 (2), FGFR3 (2), FBN1 (2), NOTCH1 (3), ALPL (2), PEX7 (2), COL11A1 (2)	0.08044	0.43590	4.080e-42	1.893e-40	
Idiopathic steroid-resistant nephrotic syndrome	Nephrotic syndrome	23	21	WT1 (5), NUP107 (4), ACTN4 (2), ARHGAP24 (2), MYO1E (2), NUP160 (5), NUP85 (4), PAX2 (2), PTPRO (4), TRPC6 (2), PLCE1 (6), MAGI2 (4)	0.13372	0.82143	1.089e-41	5.041e-40	20
Atrial fibrillation	Coronary artery disease	184	54	SOX5 (3), CASZ1 (3), JMJD1C (1), ZFPM2 (1), ANKRD26 (1), ACE (2), AGT (2), ALDH1A2 (1), ANKRD31 (1), APOB (3), APOC1 (1), BAZ1B (1)	0.10093	0.21321	1.259e-41	5.815e-40	34
Distal spinal muscular atrophy	Hereditary motor and sensory neuropathies	20	2	AARS1 (1), SETX (1), TRPV4 (3), DCTN1 (1), DYNC1H1 (1), NEFL (1), LITAF (1), SH3TC2 (1), BSCL2 (1), HSPB1 (1), PLEKHG5 (1), GARS1 (1)	0.25641	0.64516	1.464e-41	6.749e-40	13
Cone-rod dystrophy	Leber congenital amaurosis	25	16	ABCA4 (7), CNGB3 (1), PRPH2 (4), AIPL1 (6), ALMS1 (1), PDE6B (1), RIMS1 (3), USH2A (1), CRB1 (6), CRX (8), GUCY2D (7), PROM1 (6)	0.20492	0.34722	1.507e-41	6.936e-40	7
Congenital contractural arachnodactyly	Thoracic aortic aneurysm and aortic dissection	18	18	SKI (2), FBN1 (6), FBN2 (8), PLOD1 (2), SLC2A10 (2), TGFB2 (5), THSD4 (3), BGN (5), SMAD3 (6), COL3A1 (2), EFEMP2 (3), TGFBR1 (6)	0.33962	0.62069	1.880e-41	8.632e-40	50
Congestive ophthalmopathy	Graves ophthalmopathy	13	3	SCD (2), ICAM1 (1), IL10 (1), IL2 (1), TNF (1), PTGS2 (2), IL3 (1), CTLA4 (1), IL23R (1), PTPN22 (1), IL1RN (1), TSHR (2)	0.68421	1.00000	1.960e-41	8.963e-40	153
Graves ophthalmopathy	Myopathic ophthalmopathy	13	3	SCD (2), ICAM1 (1), IL10 (1), IL2 (1), TNF (1), PTGS2 (2), IL3 (1), CTLA4 (1), IL23R (1), PTPN22 (1), IL1RN (1), TSHR (2)	0.68421	1.00000	1.960e-41	8.963e-40	153
Colobomatous microphthalmia	Microphthalmia	15	15	TENM3 (5), SHH (6), SOX2 (4), STRA6 (4), SIX6 (4), OTX2 (4), PORCN (3), RAX (4), VSX2 (7), RBP4 (6), MAB21L2 (6), ALDH1A3 (4)	0.38462	1.00000	3.141e-41	1.433e-39	52
Developmental coordination disorder	Motor skills disorder	12	12	PTEN (2), DISC1 (2), RPTOR (2), SQSTM1 (2), SOD1 (2), FGFR2 (2), CNR1 (2), SHANK1 (2), CAMKMT (2), NDUFS4 (2), OGG1 (2), AKAP5 (2)	0.85714	1.00000	3.520e-41	1.603e-39	
Congenital contractural arachnodactyly	Marfan syndrome	18	6	FBN1 (7), LTBP3 (1), FBN2 (7), SLC2A10 (1), TGFB2 (2), THSD4 (1), BGN (1), SMAD3 (1), COL3A1 (2), TGFBR1 (3), TGFBR2 (3), LOX (1)	0.32727	0.62069	5.651e-41	2.568e-39	50
Jeune syndrome	Short-rib thoracic dysplasia	17	17	NEK1 (4), IFT80 (6), CEP120 (5), DYNC2H1 (6), DYNC2I1 (6), DYNC2I2 (6), DYNC2LI1 (5), DYNLT2B (4), IFT140 (3), IFT172 (5), IFT52 (5), INTU (3)	0.34694	0.73913	5.944e-41	2.695e-39	19
Leber hereditary optic neuropathy	Melas syndrome	15	13	IL1A (2), IL1B (2), ND1 (2), ND2 (2), SOD2 (2), ATP6 (2), ND6 (2), COX3 (2), ATP8 (1), COX1 (2), ND5 (2), COX2 (2)	0.46875	0.83333	6.188e-41	2.800e-39	26
Atrial fibrillation	Cardioembolic stroke	54	35	PRRX1 (3), ESR2 (3), GORAB (1), KCNN2 (3), KCNN3 (3), NCOR2 (1), RBM20 (3), TBX5 (3), TNFSF12-TNFSF13 (1), TRIM36 (1), VRTN (1), IGF1R (3)	0.05928	0.53465	6.897e-41	3.115e-39	
Congenital impairment of spermatozoa motility	Spermatogenic failure	20	20	CATSPER1 (5), SPAG17 (4), SPEF2 (4), ACTL9 (4), ARMC2 (5), CFAP43 (5), TTC29 (4), SLC26A8 (4), DRC1 (4), DNAH1 (5), AK7 (5), DNAH17 (4)	0.16949	0.86957	7.341e-41	3.308e-39	11
Cancer	Stroke	56	2	SH2B3 (2), ANKRD26 (1), ALDH1A2 (1), ANKRD31 (1), APOB (1), APOC1 (1), BAZ1B (1), BCL3 (1), CCDC91 (1), FADS1 (1), FADS2 (1), LIPC (1)	0.10586	0.21456	1.070e-40	4.810e-39	
Liver disease	Nonalcoholic fatty liver disease	46	25	INS (2), MTTP (3), SERPINA1 (3), APOC1 (1), APOE (1), CYP1A2 (2), HS3ST1 (1), TRIB1 (3), HFE (2), ALDH2 (2), GSTP1 (2), GSTT1 (2)	0.10748	0.29299	1.375e-40	6.170e-39	288
Jeune syndrome	Short rib dysplasia-polydactyly syndrome	17	16	NEK1 (3), IFT80 (5), CEP120 (3), DYNC2H1 (6), DYNC2I1 (4), DYNC2I2 (4), DYNC2LI1 (4), DYNLT2B (2), IFT140 (3), IFT172 (3), IFT52 (2), INTU (1)	0.34000	0.70833	2.035e-40	9.114e-39	19
Kidney failure	Myocardial ischemia	59	42	TP53 (1), GATM (3), AHSG (1), SERPINA1 (2), ABCA1 (2), ACE (2), AGT (2), APOE (2), EPHX2 (2), MLXIPL (2), MMP3 (1), SCARB1 (3)	0.10103	0.23506	2.170e-40	9.699e-39	73
Astrocytoma	Glioblastoma	76	3	NF1 (1), NOTCH2 (1), NOTCH1 (1), HMCN1 (1), TEAD1 (1), AGBL1 (1), ARHGEF28 (1), C6orf118 (1), CTNNA3 (1), DSCAM (1), FAM163A (1), G3BP1 (2)	0.09124	0.25249	2.463e-40	1.099e-38	291
Diabetes mellitus type 2	Gout	324	55	SIN3A (1), SKI (1), JMJD1C (1), RREB1 (1), INS (3), GNAT2 (1), ATP2A2 (3), NOTCH2 (3), PIK3R1 (3), TPCN2 (1), SERPINF2 (1), ABCA1 (2)	0.09060	0.39560	3.561e-40	1.586e-38	2
Bardet-biedl syndrome	Ciliopathy	23	23	WDPCP (8), RPGRIP1L (3), TMEM67 (4), IFT172 (6), WDR19 (2), SCLT1 (3), BBS7 (5), SDCCAG8 (7), IFT74 (7), ARL6 (7), BBS2 (7), CFAP418 (7)	0.21296	0.38983	4.399e-40	1.954e-38	8
Congenital neutropenia	Severe congenital neutropenia	14	14	CLPB (5), CSF3R (6), VPS45 (6), GFI1 (6), ELANE (6), SRP19 (2), SRP54 (5), TCIRG1 (3), SEC61A1 (3), G6PC3 (7), JAGN1 (6), HAX1 (3)	0.53846	0.82353	4.521e-40	2.004e-38	211
Lung neoplasms	Prostatic neoplasms	71	0	HNF1B (1), PTEN (1), CHEK2 (1), TERT (1), TP53 (1), ACE (1), BRAF (1), CDH13 (1), EGFR (1), ERBB3 (1), ROBO1 (1), MPO (1)	0.08755	0.27953	5.915e-40	2.617e-38	4
Generalized epilepsy	Partial epilepsy	21	1	CUX2 (1), GABRA2 (1), GRM3 (1), OGA (1), PCDH7 (1), RPH3A (1), TRIM36 (1), ALDH2 (1), VRK2 (1), GBF1 (1), SCN1A (3), TNKS (1)	0.23596	0.47727	6.876e-40	3.037e-38	223
Neurotic disorder	Post-traumatic stress disorder	56	0	SOX5 (1), KANSL1 (1), ARHGAP15 (1), CACNA1E (1), CSMD1 (1), CTTNBP2 (1), DCC (1), FOXP2 (1), GABBR1 (1), GRM8 (1), LINC02210-CRHR1 (1), LINGO1 (1)	0.09605	0.27586	6.952e-40	3.064e-38	2
Breast neoplasms	Ovarian neoplasms	50	0	PTEN (1), TERT (1), TP53 (1), ATP7B (1), EGFR (1), GRIK2 (1), MACIR (1), MECOM (1), NECTIN2 (1), YAP1 (1), SOD2 (1), STAT3 (1)	0.08347	0.38168	7.699e-40	3.387e-38	4
Jeune syndrome	Jeune thoracic dystrophy	18	12	NEK1 (1), GRK2 (2), IFT80 (5), CEP120 (3), DYNC2H1 (5), DYNC2I1 (3), DYNC2I2 (3), DYNC2LI1 (3), DYNLT2B (1), IFT140 (2), IFT172 (3), IFT52 (1)	0.31034	0.54545	9.798e-40	4.301e-38	19
Prostatic neoplasms	Urinary bladder neoplasms	55	0	USP7 (1), CYP17A1 (1), TERT (1), TP53 (1), ARID1A (1), EGFR (1), ERCC2 (1), ESR2 (1), KMT2C (1), NECTIN2 (1), MPO (1), ACHE (1)	0.07692	0.38732	1.294e-39	5.669e-38	4
Hyperlipidemia	Lipoprotein lipase deficiency	22	5	APOB (3), APOC1 (1), APOE (3), FADS1 (1), FADS2 (1), LDLR (3), MLXIPL (1), NYAP2 (1), PSD3 (1), SMARCA4 (1), VEGFA (1), LPL (7)	0.14667	0.73333	1.432e-39	6.262e-38	57
Graves disease	Hashimoto disease	20	9	FAM76B (1), HLA-DQA1 (2), HLA-DRB1 (2), ICOS (1), IL6R (2), PRICKLE1 (1), PRSS36 (1), IL6 (2), BACH2 (1), CTLA4 (4), IL2RA (1), PTPN22 (3)	0.18692	0.74074	1.614e-39	7.044e-38	309
Hypercholesterolemia	Hyperlipoproteinemia	19	17	ABCA1 (2), APOB (6), APOE (5), EPHX2 (3), GHR (3), LDLR (6), LIPC (2), APOA4 (2), HMGCR (2), LPL (4), PON1 (2), PON2 (2)	0.27941	0.47500	1.776e-39	7.737e-38	57
Hodgkin lymphoma	Lymphocytic leukemia	30	0	DTNB (1), GRAMD1B (1), HLA-DQA1 (1), HLA-DRB1 (1), ULK4 (1), BCL2 (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (1), EOMES (1), PTPRK (1), SP140 (1)	0.15228	0.27027	1.883e-39	8.184e-38	89
Psoriasis vulgaris	Sclerosing cholangitis	29	0	IFIH1 (1), CDKAL1 (1), ETS1 (1), TNIP1 (1), UBE2L3 (1), RUNX3 (1), SLC9A8 (1), IRF1 (1), ERAP1 (1), FAP (1), GRHL3 (1), HLA-B (1)	0.11328	0.53704	2.252e-39	9.770e-38	14
Autoimmune thyroid disease	Vitiligo	33	9	RERE (1), SH2B3 (3), IFIH1 (3), BTNL2 (1), FAM76B (1), HLA-DQA1 (2), HLA-DRB1 (2), ICOS (1), RHOH (1), MBL2 (1), ATXN2 (1), HLA-DQB1 (1)	0.13866	0.26190	2.600e-39	1.126e-37	
Maturity-onset diabetes of the young	Maturity-onset diabetes of the young (mody)	13	13	INS (6), BLK (7), KLF11 (6), ABCC8 (4), HNF4A (6), PAX4 (5), KCNJ11 (7), GCK (7), HNF1A (6), PDX1 (7), NEUROD1 (6), CEL (8)	0.54167	1.00000	2.618e-39	1.131e-37	35
Diabetic eye disease	Diabetic neuropathy	28	3	CDKAL1 (1), HMG20A (1), JAZF1 (1), MACF1 (1), MACIR (1), NRXN3 (1), NYAP2 (1), TCF7L2 (1), TRPS1 (1), PPARG (3), HLA-DQB1 (1), TGFB1 (3)	0.10980	0.58333	3.016e-39	1.301e-37	182
Anxiety disorder	Mood disorder	43	23	SERPINA1 (2), ARHGAP15 (1), CELF4 (1), DCC (1), DISC1 (2), FOXP2 (1), GRM8 (3), HTR1A (1), HTR7 (2), MAD1L1 (1), MAPT (3), NTRK2 (2)	0.10697	0.29452	3.400e-39	1.464e-37	2
Gout	Metabolic syndrome	188	6	SKI (1), JMJD1C (1), RREB1 (1), INS (3), GNAT2 (1), ATP2A2 (1), ABCA1 (1), ABCA6 (1), ADGRL2 (1), ALDH1A2 (1), APLNR (1), APOC1 (1)	0.09716	0.22955	4.528e-39	1.945e-37	2
Peroxisome biogenesis disorder	Zellweger spectrum disorder	13	13	PEX14 (7), PEX6 (7), PEX10 (7), PEX16 (7), PEX2 (7), PEX5 (6), PEX11B (6), PEX1 (7), PEX13 (7), PEX26 (7), PEX12 (7), PEX19 (7)	0.52000	1.00000	5.711e-39	2.449e-37	141
Alzheimer disease	Diabetes mellitus type 2	681	112	WT1 (2), HMGA2 (1), ANKRD11 (1), HNF1B (6), KANSL1 (1), NFIX (1), HSPG2 (1), RERE (1), ARVCF (1), JMJD1C (1), RREB1 (1), INS (3)	0.14747	0.30703	6.259e-39	2.678e-37	2
Diabetes mellitus	Hyperlipidemia	42	12	ALDH1A2 (1), APOB (3), APOC1 (1), APOE (3), BCL3 (1), FADS1 (1), FADS2 (1), HLA-C (1), HLA-DQA1 (1), LIPC (6), MLXIPL (1), NYAP2 (1)	0.10606	0.29787	1.193e-38	5.096e-37	
autosomal recessive limb-girdle muscular dystrophy	Limb girdle muscular dystrophy	14	14	SGCA (5), HMGCR (4), TRAPPC11 (6), ANO5 (4), SGCD (6), DYSF (6), SGCG (6), TCAP (4), POPDC3 (3), CAPN3 (7), JAG2 (3), POGLUT1 (4)	0.35897	1.00000	2.013e-38	8.582e-37	131
Squamous cell carcinoma	Upper aerodigestive tract neoplasm	62	3	CHEK2 (1), TP53 (2), ABT1 (1), EMB (1), GLIS3 (1), GRIK1 (1), HCN1 (1), HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (1), NPAS3 (1), NYAP2 (1)	0.06974	0.38509	2.154e-38	9.166e-37	
Catecholaminergic polymorphic ventricular tachycardia	Long qt syndrome	18	13	DSG2 (1), PKP2 (2), TRPM4 (1), CALM1 (7), DSP (1), KCNJ2 (3), TECRL (6), CALM2 (7), CALM3 (7), CASQ2 (7), KCNH2 (7), LMNA (1)	0.17143	0.90000	2.327e-38	9.880e-37	3
Congenital ear anomaly	Nonsyndromic hearing loss	21	16	CEACAM16 (3), MYO15A (3), OTOF (1), PCDH15 (3), TMC1 (4), SLC26A4 (3), COL11A2 (3), MYO6 (4), CDH23 (3), MYO7A (4), GJB2 (4), TBCEL-TECTA (1)	0.16279	0.67742	2.384e-38	1.011e-36	31
Congenital ear anomaly	Isolated sensorineural deafness	21	0	CEACAM16 (1), MYO15A (1), OTOF (1), PCDH15 (1), TMC1 (1), SLC26A4 (1), COL11A2 (1), MYO6 (1), CDH23 (1), MYO7A (1), GJB2 (1), MITF (1)	0.16154	0.67742	2.894e-38	1.224e-36	31
Gout	Hyperuricemia	42	7	RREB1 (1), BAZ1B (1), HNF4G (1), NFAT5 (1), SLC2A9 (3), VEGFA (1), ALDH2 (1), IGF1R (1), MALRD1 (1), TGFB1 (2), XDH (3), UMOD (1)	0.04988	0.65625	2.916e-38	1.231e-36	
Aortic aneurysm	Marfan syndrome	20	19	FBN1 (7), ARIH1 (2), FBN2 (2), PRKG1 (5), SLC2A10 (2), TGFB2 (3), THSD4 (4), SOD2 (2), FLNA (1), SMAD3 (2), ACTA2 (5), MMP9 (2)	0.23256	0.46512	3.654e-38	1.540e-36	50
Developmental and epileptic encephalopathy	Global developmental delay	53	39	FOXG1 (2), UBE3A (1), WWOX (6), PTEN (1), ATP1A3 (5), ACTL6B (5), CACNA1A (5), GRIN2B (4), KCNQ2 (7), KMT2C (1), MAF (1), RBFOX1 (1)	0.09851	0.24091	3.767e-38	1.584e-36	6
Inflammatory skin disease	Psoriasis vulgaris	22	0	IFIH1 (1), ELMO1 (1), TNIP1 (1), FYN (1), TRAF3IP2 (1), ERAP1 (1), FAP (1), GRHL3 (1), IFNLR1 (1), IL23R (1), KCNH7 (1), LCE3A (1)	0.20183	0.40741	4.365e-38	1.832e-36	14
Hodgkin lymphoma	Multiple myeloma	31	4	DTNB (1), GRAMD1B (1), HLA-DQA1 (1), HLA-DRB1 (1), ULK4 (2), BCL2 (2), HLA-DQB1 (1), EXOC2 (1), HBS1L (1), IRF4 (2), EOMES (1), SP140 (1)	0.13839	0.27928	5.272e-38	2.209e-36	89
Rheumatoid arthritis	Sarcoidosis	58	18	SH2B3 (1), BTNL2 (5), HLA-C (1), HLA-DQA1 (2), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (5), HLA-DRB5 (1), OR5V1 (1), PLCL1 (1), PPT2 (1), TNXB (1)	0.07552	0.35583	5.728e-38	2.395e-36	47
Giant cell glioblastoma	Gliosarcoma	12	0	FGFR3 (1), TP53 (1), EGFR (1), MGMT (1), SEPTIN14 (1), TACC3 (1), PPARG (1), IDH1 (1), FGFR1 (1), NFKBIA (1), LZTR1 (1), TACC1 (1)	0.66667	0.92308	6.405e-38	2.673e-36	
Diabetic neuropathy	Kidney disease	57	22	INS (2), COL4A3 (2), ACE (2), AFF3 (1), AGT (2), LSAMP (1), NYAP2 (1), TCF7L2 (1), TENM2 (1), VEGFA (3), CTSD (2), EPO (2)	0.09453	0.24359	6.753e-38	2.813e-36	
Breast neoplasms	Non-small-cell lung carcinoma	50	1	CAT (1), COL7A1 (1), TERT (1), TP53 (1), ADAMTS1 (1), CST6 (1), EGFR (1), GRIK2 (1), MACIR (1), ENO1 (1), GSTP1 (1), IL10 (1)	0.08197	0.35211	8.170e-38	3.397e-36	4
Long qt syndrome	Wolff-parkinson-white syndrome	23	9	JUP (1), RBM20 (1), TBX5 (2), TRPM4 (1), DSP (1), DPP6 (1), KCNJ2 (2), CACNA1C (6), MYH6 (1), CASQ2 (1), KCNH2 (7), KCNQ1 (7)	0.17557	0.45098	9.135e-38	3.791e-36	3
Breast neoplasms	Hepatocellular carcinoma	98	19	CYP17A1 (1), DPYD (1), COMT (1), MAP3K1 (2), CAT (1), PTEN (1), TERT (2), TP53 (4), ADAMTS1 (1), ARID1A (1), EGFR (1), EXO1 (1)	0.09167	0.18956	9.890e-38	4.097e-36	
Night blindness, congenital stationary	Oguchi disease	13	13	CACNA1F (3), PDE6B (3), TRPM1 (3), GUCY2D (4), RHO (3), GNB3 (3), GNAT1 (3), SAG (6), GRM6 (3), LRIT3 (3), NYX (3), SLC24A1 (3)	0.48148	0.92857	1.665e-37	6.882e-36	160
Cutaneous squamous cell carcinoma	Keratinocyte carcinoma	20	0	BNC2 (1), EPB41L1 (1), FOXP1 (1), HLA-DQA1 (1), TRPS1 (1), RALY (1), IRF4 (1), KRT5 (1), BACH2 (1), CTLA4 (1), MICA (1), LPP (1)	0.20833	0.52632	2.035e-37	8.400e-36	16
Lung disease	Obstructive airway disease	27	13	SERPINA1 (3), ACE (2), GSTP1 (1), GSTT1 (1), IL1B (1), TNF (2), GSTM1 (1), CHRNA3 (2), PTGS2 (2), HIF1A (2), TGFB1 (2), MMP9 (1)	0.15429	0.27000	3.452e-37	1.422e-35	133
Cytochrome c oxidase deficiency	Mitochondrial disease	20	20	COX5A (2), LRPPRC (4), SCO2 (4), SCO1 (5), COA3 (3), COA5 (3), COA6 (3), COX15 (5), SURF1 (3), COX14 (4), FASTKD2 (3), PET100 (2)	0.08230	1.00000	3.818e-37	1.570e-35	62
Congenital ear anomaly	nonsyndromic genetic hearing loss	19	19	CEACAM16 (2), MYO15A (2), OTOF (2), PCDH15 (2), TMC1 (2), COL11A2 (2), MYO6 (2), CDH23 (2), MYO7A (2), GJB2 (2), TECTA (2), CDC14A (2)	0.20000	0.61290	8.955e-37	3.675e-35	31
Respiratory system disease	Seasonal allergic rhinitis	34	0	RERE (1), CEBPA (1), CCR7 (1), EMSY (1), FCER1G (1), HLA-DQA1 (1), ITGB8 (1), JAZF1 (1), NFATC2 (1), PLCL1 (1), RORA (1), SLC7A10 (1)	0.11039	0.34000	9.015e-37	3.693e-35	
Ischemic heart disease	Kidney failure	41	19	TP53 (1), AHSG (1), ABCA1 (2), ACE (2), APOE (1), EPHX2 (1), MLXIPL (2), MMP3 (1), SERPINE1 (2), SREBF1 (2), VEGFA (1), NOS3 (1)	0.10761	0.24118	1.276e-36	5.216e-35	73
Brain injuries	Brain ischemia	23	23	MPO (2), BDNF (2), ICAM1 (2), IL1A (2), IL1B (2), PARP1 (2), SOD2 (2), TNF (2), IL6 (2), RELA (2), PTGS2 (2), ALB (2)	0.17969	0.32857	1.327e-36	5.417e-35	63
Breast neoplasms	Urinary bladder neoplasms	49	1	CYP17A1 (1), CAT (1), TERT (1), TP53 (1), ARID1A (1), EGFR (1), ESR2 (1), NECTIN2 (1), SRC (1), ACHE (1), BCL2 (1), ESR1 (2)	0.08020	0.34507	1.391e-36	5.665e-35	4
Scleroderma	Systemic sclerosis	20	19	NECTIN2 (2), TNIP1 (3), CAV1 (1), HLA-DQB1 (3), ACTA2 (2), IRF5 (3), SIRT1 (2), PSORS1C1 (2), CNR2 (2), STAT4 (3), CNR1 (2), CCN2 (2)	0.14599	0.71429	1.546e-36	6.288e-35	22
Congenital cataract	Congenital total cataract	15	4	LSS (1), CRYBB2 (1), PGRMC1 (1), CRYAA (2), EPHA2 (1), GJA8 (2), HSF4 (2), LIM2 (1), MIP (1), GCNT2 (1), FYCO1 (2), AGK (1)	0.24194	0.93750	1.723e-36	6.993e-35	51
Diabetic eye disease	Diabetic nephropathy type 2	15	0	CDKAL1 (1), HMG20A (1), JAZF1 (1), MACF1 (1), NYAP2 (1), TCF7L2 (1), FTO (1), ASCL2 (1), GPSM1 (1), ZMIZ1 (1), KCNQ1 (1), SLC30A8 (1)	0.28846	0.83333	1.800e-36	7.279e-35	
Focal glomerulosclerosis	Hereditary steroid-resistant nephrotic syndrome	18	18	WT1 (2), ACTN4 (2), ARHGAP24 (2), CD2AP (2), MYO1E (2), PAX2 (2), PTPRO (2), TRPC6 (2), APOL1 (2), PLCE1 (2), ANLN (2), CRB2 (2)	0.24324	0.52941	1.797e-36	7.279e-35	20
Obstructive airway disease	Pulmonary fibrosis	27	21	RTEL1 (1), TERT (2), SERPINA1 (2), ACE (2), CHRM3 (2), HMOX1 (2), HSPA1A (2), HSPA1B (2), IL1B (2), MBL2 (1), TNF (2), IL6 (2)	0.14917	0.27000	2.019e-36	8.150e-35	133
Alzheimer disease	Major depressive disorder	477	114	HNF1B (1), KANSL1 (1), RERE (1), WWOX (2), ZFPM2 (1), APP (6), PSEN1 (6), PDE4D (2), ABT1 (1), ACE (2), ADAMTS2 (1), ADARB1 (1)	0.12885	0.24337	2.092e-36	8.426e-35	2
Atrial fibrillation	Metabolic syndrome	189	39	SOX5 (3), HSPG2 (3), JMJD1C (1), RREB1 (1), GATA4 (4), ZFPM2 (1), ATP2A2 (1), BRWD1 (1), CACNA1D (1), ACE (3), AFF3 (1), AKAP6 (3)	0.09555	0.21900	2.815e-36	1.132e-34	
Avascular necrosis of bone	Osteonecrosis of the femoral head	14	0	CAT (1), COL2A1 (1), TRPV4 (1), NOS3 (1), F2 (1), GSTT1 (1), GSTM1 (1), PLAT (1), F5 (1), IL23R (1), ABCB1 (1), MMP2 (1)	0.26415	1.00000	3.683e-36	1.476e-34	23
Osteonecrosis of medial femoral condyle	Osteonecrosis of the femoral head	14	0	CAT (1), COL2A1 (1), TRPV4 (1), NOS3 (1), F2 (1), GSTT1 (1), GSTM1 (1), PLAT (1), F5 (1), IL23R (1), ABCB1 (1), MMP2 (1)	0.26415	1.00000	3.683e-36	1.476e-34	23
Esophageal disease	Esophageal ulcer	13	0	SAMD5 (1), SASH1 (1), TLN2 (1), SOD2 (1), TRHDE (1), SPATS2L (1), ALPK3 (1), ASIC2 (1), CLNK (1), TECTA (1), YBX1 (1), CLDN19 (1)	0.40625	0.92857	3.832e-36	1.533e-34	
Congenital skin anomaly	Skin abnormalities	10	10	TP63 (2), ERCC2 (2), GORAB (2), IRF6 (2), SOD2 (2), FGFR2 (2), CHUK (2), ZNF469 (2), APAF1 (2), SUPV3L1 (2)	0.90909	1.00000	4.857e-36	1.939e-34	396
Global developmental delay	Strabismus	26	1	FOXG1 (1), NFIX (1), BFSP2 (1), CACNA1A (1), FBN2 (1), SIL1 (1), GALC (1), SLC9A6 (1), GNB1 (2), POGZ (1), NALCN (1), ASXL3 (1)	0.06860	0.76471	5.025e-36	2.002e-34	
Male infertility single gene azoospermia	Testicular azoospermia	20	17	NR5A1 (3), DMRT1 (1), KLHL10 (3), STAG3 (2), C14orf39 (2), MSH5 (2), TEX15 (2), GCNA (2), MOV10L1 (2), TERB1 (2), RNF212 (2), ZSWIM7 (3)	0.16529	0.60606	5.607e-36	2.230e-34	11
Congenital ear anomaly	Hereditary hearing loss	17	17	MYO15A (2), OTOF (2), PCDH15 (2), TMC1 (2), SLC26A4 (2), COL11A2 (2), MYO6 (2), CDH23 (2), MYO7A (2), GJB2 (2), TECTA (2), LHFPL5 (2)	0.26154	0.54839	5.923e-36	2.352e-34	31
Amelogenesis imperfecta	Dentinogenesis imperfecta	13	13	SLC24A4 (5), AMBN (5), AMELX (6), DLX3 (3), ENAM (6), FAM20A (5), FAM83H (5), ITGB6 (4), KLK4 (5), LAMB3 (5), MMP20 (5), ODAPH (5)	0.44828	0.81250	6.648e-36	2.630e-34	390
Heart disease	Ischemic heart disease	34	33	ABCG8 (2), APOE (2), ICA1L (2), JCAD (2), KCNE2 (2), LDLR (2), VEGFA (2), NOS3 (2), EPO (2), F2 (2), LPL (2), PON1 (2)	0.12014	0.23288	6.645e-36	2.630e-34	73
Breast neoplasms	Stomach neoplasms	67	2	DPYD (1), BMP2 (1), WWOX (1), NOTCH2 (1), CHEK2 (2), TP53 (1), CDH2 (1), ARID1A (1), EGFR (1), FST (1), RARB (1), SREBF2 (1)	0.08851	0.21895	7.655e-36	3.023e-34	4
Epilepsy	Seizures	37	34	FOXG1 (2), CHRNA7 (3), ATP1A3 (1), CPA6 (2), HCN1 (2), HTR1A (2), KCNQ2 (5), RBFOX1 (3), SCN8A (5), SLC6A1 (2), ACHE (2), BCHE (2)	0.10947	0.26241	8.385e-36	3.306e-34	223
Lymphocytic leukemia	Multiple myeloma	30	3	DTNB (1), GRAMD1B (1), HLA-DQA1 (1), HLA-DRB1 (1), ULK4 (2), BCL2 (2), HLA-DQB1 (1), EXOC2 (1), IRF4 (2), EOMES (1), SP140 (1), LPP (1)	0.13100	0.26087	8.999e-36	3.542e-34	89
Skin cancer	Skin disease	29	0	TERT (1), BNC2 (1), CUX1 (1), EMSY (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), MYL10 (1), TRPS1 (1), RALY (1), IRF4 (1), KRT5 (1)	0.12446	0.34524	9.084e-36	3.568e-34	16
Corneal neovascularization	Keratitis	13	0	PID1 (1), MSI2 (1), TMEM74 (1), TRHR (1), STK11 (1), ADCY2 (1), PDE1C (1), NT5C1B (1), NLRP1 (1), WSCD1 (1), NT5C1B-RDH14 (1), IL17RE (1)	0.46429	0.72222	9.725e-36	3.813e-34	
Periodontal disease	Periodontitis	18	1	CAMK2N1 (1), CCR7 (1), FKBP1C (1), KALRN (1), TSEN2 (1), PPARG (1), IL6 (1), PIK3C3 (1), SMARCE1 (1), MBP (1), ITGA4 (1), SYNDIG1 (1)	0.11250	0.94737	1.106e-35	4.330e-34	
Arrhythmogenic right ventricular cardiomyopathy	Wolff-parkinson-white syndrome	19	9	ABCC9 (1), ACTN2 (1), JUP (5), PRKAG2 (5), RBM20 (1), TRPM4 (1), DSP (4), MYH6 (1), FLNC (1), LMNA (2), RYR2 (3), SCN5A (3)	0.22353	0.37255	1.169e-35	4.569e-34	3
Bipolar depression	Mood disorder	36	6	COMT (1), CACNA1D (1), SERPINA1 (1), ANK3 (1), DISC1 (1), GRIK2 (1), HTR1A (1), NTRK2 (1), PDE4B (2), RELN (2), THSD7A (2), BDNF (1)	0.09783	0.34286	1.293e-35	5.045e-34	2
Cone dystrophy	Optic atrophy	23	4	ABCA4 (1), CNGA3 (1), CNGB3 (3), PDE6C (7), PRPH2 (1), CACNA1F (1), ABHD12 (1), PCDH15 (1), USH2A (1), CRB1 (1), GUCY2D (1), RPGRIP1 (1)	0.11675	0.60526	1.298e-35	5.053e-34	7
Congenital stationary night blindness	Night blindness, congenital stationary	12	11	CACNA1F (4), PDE6B (6), TRPM1 (5), CABP4 (1), RHO (6), GNB3 (5), GNAT1 (5), GPR179 (6), GRM6 (5), LRIT3 (5), NYX (5), SLC24A1 (5)	0.46154	1.00000	1.408e-35	5.468e-34	160
Cardiac arrhythmia	Cardioembolic stroke	26	5	PRRX1 (1), ESR2 (3), GORAB (1), KCNN2 (3), KCNN3 (1), TBX5 (1), CAV1 (1), CAV2 (1), AOPEP (1), FAM13B (1), FGF5 (1), LRMDA (1)	0.14943	0.26531	1.409e-35	5.468e-34	
Lung neoplasms	Stomach neoplasms	50	0	HNF1B (1), DPYD (1), SOX9 (1), APOA1 (1), NOTCH2 (1), CHEK2 (1), TP53 (1), SERPINA1 (1), ACE (1), BCL2L1 (1), EGFR (1), ERCC1 (1)	0.09785	0.19685	1.414e-35	5.475e-34	4
Cardiac arrhythmia	Long qt syndrome	26	21	KCNE2 (7), PKP2 (2), TBX5 (3), CALM1 (6), DSP (1), KCNJ2 (3), CACNA1C (7), MYH6 (2), SYNE2 (2), CALM2 (6), CALM3 (7), CASQ2 (2)	0.14857	0.26531	1.883e-35	7.280e-34	3
Loeys-dietz syndrome	Marfan syndrome	14	13	FBN1 (7), COL5A1 (2), FBN2 (2), TGFB2 (6), SMAD3 (4), COL3A1 (2), MYH11 (2), TGFBR1 (6), TGFBR2 (7), MYLK (2), TGFB3 (5), SMAD2 (8)	0.30435	0.87500	1.951e-35	7.531e-34	50
Lung cancer	Upper aerodigestive tract neoplasm	55	4	CHEK2 (1), TP53 (1), ABT1 (1), GRIK1 (1), HCN1 (1), HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (1), HMGN4 (1), NTM (1), NYAP2 (1), OR2B2 (1)	0.07275	0.34161	2.042e-35	7.866e-34	
Spermatogenic failure	Testicular azoospermia	20	20	NR5A1 (4), DMRT1 (2), KLHL10 (5), STAG3 (4), C14orf39 (4), MSH5 (4), TEX15 (4), DMC1 (2), MOV10L1 (3), TERB1 (3), RNF212 (4), ZSWIM7 (3)	0.15625	0.60606	2.241e-35	8.619e-34	11
Amelogenesis imperfecta	Dentin dysplasia	13	13	SLC24A4 (5), AMBN (5), AMELX (6), DLX3 (3), ENAM (6), FAM20A (5), FAM83H (5), ITGB6 (4), KLK4 (5), LAMB3 (5), MMP20 (5), ODAPH (5)	0.43333	0.76471	2.824e-35	1.084e-33	390
Keratinocyte carcinoma	Non-small cell lung carcinoma	25	0	ANKRD11 (1), TERT (1), BNC2 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), TRPS1 (1), RALY (1), IRF4 (1), KRT5 (1), BACH2 (1)	0.14881	0.32468	3.573e-35	1.369e-33	16
Atrial fibrillation	Hypertension	173	56	HMGA2 (1), YWHAE (1), CASZ1 (3), GATA4 (3), ZFPM2 (1), ATP2A2 (2), RUNX1 (1), AMPD3 (1), CACNA1D (1), ACE (2), ADRA1A (2), AGT (3)	0.09402	0.20046	4.260e-35	1.630e-33	34
Hyperthyroidism	Thyroid disease	19	1	NFIA (1), HLA-DQA1 (1), ICOS (1), PDE10A (1), VEGFA (1), HLA-DQB1 (2), BACH2 (1), CTLA4 (1), IL2RA (1), PHTF1 (1), PTPN22 (1), RSBN1 (1)	0.21591	0.35849	4.450e-35	1.700e-33	309
Congenital pontocerebellar hypoplasia	Pontocerebellar hypoplasia	13	13	VRK1 (6), CHMP1A (5), SLC25A46 (6), AGTPBP1 (3), PRDM13 (4), EXOSC9 (5), TOE1 (5), EXOSC3 (5), CDC40 (4), PPIL1 (3), EXOSC8 (5), CLP1 (6)	0.38235	0.86667	4.944e-35	1.885e-33	
Cataract	Nuclear cataract	18	18	CRYBB2 (5), CRYAA (5), EPHA2 (6), NHS (5), GJA8 (5), CRYGC (6), WFS1 (6), CRYBB1 (6), CRYAB (6), UNC45B (6), CRYBB3 (5), CRYGD (6)	0.08911	1.00000	5.583e-35	2.125e-33	51
Brugada syndrome	Ventricular fibrillation	18	12	CACNB2 (6), PKP2 (4), TRPM4 (4), DSP (1), KCNJ2 (1), CACNA1C (7), KCNH2 (3), RYR2 (1), SCN5A (8), TTN (1), CACNA2D1 (4), SCN10A (6)	0.21951	0.50000	6.103e-35	2.319e-33	3
Cleft palate and bilateral cleft lip	Postaxial polydactyly	12	0	ND1 (1), ND2 (1), PIGL (1), ATP6 (1), COX3 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.50000	0.85714	7.235e-35	2.744e-33	26
Cardiomyopathy	Congestive heart failure	40	32	INS (2), CAT (2), TP53 (2), AGT (2), EYA4 (1), KAT8 (2), PRKAG2 (3), TRPM4 (1), NOS3 (1), EPO (2), IL1B (2), SOD2 (3)	0.10417	0.22346	8.160e-35	3.090e-33	
Hereditary motor and sensory neuropathies	Peripheral neuropathy	27	5	DHTKD1 (1), AARS1 (1), SLC12A6 (1), MME (1), DCTN1 (1), DYNC1H1 (1), KIF5A (1), MFN2 (4), NEFH (1), NEFL (2), COX6A1 (1), LITAF (2)	0.11638	0.40909	9.488e-35	3.587e-33	
Cleft palate and bilateral cleft lip	Neuropathy, ataxia, and retinitis pigmentosa	11	1	ND1 (1), ND2 (1), ATP6 (2), COX3 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.64706	0.84615	9.855e-35	3.719e-33	26
Color vision deficiency	Scoliosis	173	7	PRDM16 (1), TBX1 (1), WWOX (1), ATF6 (3), PDE4D (1), FBN1 (2), AMPD3 (1), CDH2 (1), ADGRL2 (1), ANXA10 (1), ASB3 (1), ATP8B4 (1)	0.09469	0.17909	1.167e-34	4.396e-33	2
Kidney failure	Obstructive airway disease	33	12	TP53 (1), SERPINA1 (1), ACE (2), CHRM3 (2), CYP1A2 (2), LRP1B (2), NOS3 (1), GSTP1 (1), GSTT1 (1), HMOX1 (2), HSPA1A (1), IL1B (1)	0.10345	0.33000	1.340e-34	5.041e-33	
Congenital neurologic anomalies	Global developmental delay	39	0	FOXG1 (1), ANKRD11 (1), WWOX (1), PTEN (1), RNASEH2B (1), ATRX (1), AP4M1 (1), CACNA1A (1), GALC (1), TSEN54 (1), DYNC1H1 (1), CREBBP (1)	0.08725	0.33913	1.403e-34	5.266e-33	6
Catecholaminergic polymorphic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	12	10	PKP2 (2), CALM1 (7), KCNJ2 (3), TECRL (7), CALM2 (4), CALM3 (4), CASQ2 (7), RYR2 (7), SCN5A (1), TRDN (6), MYBPC3 (1), ANK2 (3)	0.50000	0.80000	1.550e-34	5.809e-33	3
Distal hereditary motor neuropathy	Hereditary motor and sensory neuropathies	18	13	SETX (3), TRPV4 (4), DCTN1 (7), DYNC1H1 (2), FIG4 (1), NEFL (1), ATP7A (2), LMNA (1), BSCL2 (6), HSPB1 (6), PLEKHG5 (3), GARS1 (6)	0.21176	0.50000	1.609e-34	6.021e-33	13
Seborrheic keratosis	Skin disease	21	0	TERT (1), TP63 (1), BNC2 (1), RALY (1), IRF4 (1), KRT5 (1), SMAD3 (1), TTC27 (1), PTPN22 (1), LPP (1), TYR (1), CASP8 (1)	0.11170	0.67742	2.212e-34	8.264e-33	16
Ehlers-danlos syndrome	Thoracic aortic aneurysm and aortic dissection	17	14	FBN1 (6), NOTCH1 (1), COL5A1 (8), FBN2 (3), PLOD1 (5), SLC2A10 (1), TGFB2 (4), FLNA (4), SMAD3 (5), COL1A1 (7), MED12 (1), COL3A1 (7)	0.24638	0.41463	2.333e-34	8.699e-33	50
Learning disorders	Memory disorders	17	16	APP (2), PSEN1 (2), HTR1A (2), HTR7 (2), MAPT (2), PRKN (2), VEGFA (2), ACHE (2), BCL2 (2), IGF1 (2), IL1B (2), SIGMAR1 (1)	0.23944	0.47222	2.848e-34	1.060e-32	
Developmental disability	Global developmental delay	42	10	UBE3A (1), ANKRD11 (1), SHANK3 (2), PTEN (2), ADNP (1), ATRX (1), ARID1B (1), AUTS2 (1), GRIN2B (1), KCNQ2 (2), SCN8A (1), TCF4 (1)	0.08898	0.29371	3.172e-34	1.179e-32	6
Bipolar disorder	Psychotic disorders	61	32	ADARB1 (1), ANK3 (3), CDH4 (1), FEZ1 (2), GCH1 (1), GRIK3 (2), NPAS3 (2), PCNT (1), PDE10A (2), TAFA5 (1), TCF4 (2), BDNF (2)	0.04747	0.48800	3.446e-34	1.279e-32	
Colobomatous microphthalmia	Microphthalmos	13	13	TENM3 (2), SHH (3), SOX2 (2), STRA6 (3), OTX2 (2), PORCN (2), RAX (2), VSX2 (2), RBP4 (2), ALDH1A3 (2), GDF6 (2), GDF3 (2)	0.33333	0.86667	5.536e-34	2.050e-32	52
Left ventricular disease	Left ventricular noncompaction cardiomyopathy	18	9	PRDM16 (6), JUP (1), MYPN (1), PKP2 (3), DSP (1), MYH6 (1), RYR2 (1), LDB3 (2), MYBPC3 (6), MYH7 (3), TTN (1), ACTC1 (2)	0.20690	0.47368	5.919e-34	2.189e-32	3
Corneal dystrophy	Hereditary corneal dystrophy	12	8	COL8A2 (5), OVOL2 (3), TACSTD2 (3), VSX1 (2), TGFBI (4), CYP4V2 (1), KLKB1 (1), ZEB1 (5), KERA (1), ELOVL4 (1), SLC4A11 (6), KRT12 (5)	0.36364	1.00000	6.114e-34	2.257e-32	87
Global developmental delay	Non-specific syndromic intellectual disability	61	25	ACTL6A (2), VCP (1), ATP1A3 (1), ACTL6B (2), BORCS5 (1), DOCK3 (2), FOXP4 (1), GNB2 (2), GRIN2B (1), KCNQ2 (1), KMT5B (1), NRXN1 (1)	0.08997	0.16576	6.753e-34	2.489e-32	6
Congenital anomalies of kidney and urinary tract	Congenital anomalies of the kidney and urinary tract	15	14	ZMYM2 (2), TBC1D1 (2), SIX2 (2), BMP4 (1), TBX18 (4), TBX6 (3), DLG5 (2), SLIT2 (2), TSHZ3 (2), ARHGEF6 (2), NRIP1 (4), CHD1L (3)	0.25000	0.71429	6.790e-34	2.498e-32	
Skin disease	Skin neoplasms	33	6	TERT (1), BNC2 (1), CUX1 (1), EMSY (1), ERCC2 (2), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), MYL10 (1), TRPS1 (1), IL1A (2), SOD2 (2)	0.11379	0.22759	7.151e-34	2.627e-32	16
Focal glomerulosclerosis	Genetic steroid-resistant nephrotic syndrome	17	0	WT1 (1), ACTN4 (1), ARHGAP24 (1), CD2AP (1), MYO1E (1), PAX2 (1), PTPRO (1), TRPC6 (1), PLCE1 (1), ANLN (1), CRB2 (1), INF2 (1)	0.22667	0.50000	7.293e-34	2.674e-32	20
Brugada syndrome	Wolff-parkinson-white syndrome	19	10	ABCC9 (4), COL5A1 (1), TBX5 (2), TRPM4 (4), DSP (1), KCNJ2 (1), CACNA1C (7), TBX20 (2), KCNH2 (3), KCNQ1 (1), RYR2 (1), SCN5A (8)	0.19792	0.37255	9.187e-34	3.363e-32	3
Partington syndrome	X-linked intellectual disability	14	14	CASK (5), ARX (7), ZC4H2 (3), AP1S2 (2), RPL10 (4), BRWD3 (3), LAS1L (3), KDM5C (3), NONO (2), DDX3X (4), RAB40AL (3), PAK3 (3)	0.18667	1.00000	9.494e-34	3.470e-32	
Congenital muscular dystrophy	Muscular dystrophy	15	9	GMPPB (3), RIF1 (1), LARGE1 (2), CRPPA (3), LMNA (4), DYSF (1), NEB (1), LAMA2 (1), POMT1 (3), POMT2 (3), POMGNT1 (3), CAPN3 (1)	0.25424	0.68182	1.087e-33	3.966e-32	
Cutaneous squamous cell carcinoma	Non-small cell lung carcinoma	20	0	TP63 (1), BNC2 (1), FOXP1 (1), HLA-DQA1 (1), TRPS1 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), BACH2 (1), MICA (1), LPP (1)	0.14925	0.52632	1.542e-33	5.616e-32	16
Hyperlipidemia	Myocardial ischemia	42	28	ABCA1 (2), ABCG8 (2), APOB (3), APOC1 (1), APOE (3), LDLR (3), LIPC (6), MLXIPL (2), NYAP2 (1), SCARB1 (1), SMARCA4 (1), TCF7L2 (3)	0.08554	0.29787	1.672e-33	6.079e-32	
Congenital heart defects	Congenital heart disease	26	24	TBX1 (2), UFD1 (2), GATA4 (1), CDK13 (5), FOXP1 (2), TGFB2 (2), VEGFA (4), RCAN1 (2), POU5F1 (2), NPPB (2), PITX2 (2), AHR (3)	0.11982	0.37143	1.848e-33	6.711e-32	41
Hepatocellular carcinoma	Prostatic neoplasms	102	21	CYP17A1 (1), HNF1B (2), COMT (1), MAP3K1 (2), PTEN (1), TERT (2), TP53 (4), ACE (1), ARID1A (1), BAD (2), BRAF (1), CDH13 (1)	0.08681	0.16268	2.722e-33	9.865e-32	
Eczema	Seasonal allergic rhinitis	36	0	RERE (1), CEBPA (1), BLTP1 (1), CCR7 (1), EMSY (1), ERBB3 (1), HLA-DQA1 (1), IQGAP1 (1), ITGB8 (1), RORA (1), SLC7A10 (1), IL2 (1)	0.08372	0.36000	2.795e-33	1.011e-31	
Prostatic neoplasms	Stomach neoplasms	70	0	HNF1B (1), CHEK2 (1), TP53 (1), ACE (1), ARID1A (1), BNIP3 (1), CST1 (1), EGFR (1), ERCC2 (1), KMT2C (1), SERPINE1 (1), ZBTB20 (1)	0.08102	0.22876	2.833e-33	1.024e-31	4
Focal glomerulosclerosis	Idiopathic steroid-resistant nephrotic syndrome	16	12	WT1 (2), ACTN4 (2), ARHGAP24 (2), CD2AP (2), MYO1E (2), PAX2 (2), PTPRO (1), TRPC6 (2), PLCE1 (1), ANLN (1), CRB2 (2), INF2 (1)	0.22857	0.57143	3.609e-33	1.302e-31	20
Asthma	Obstructive pulmonary disease	125	19	RERE (1), CDH2 (1), AFF3 (1), APOE (1), ARHGEF28 (1), BNC2 (1), C6orf118 (1), CCDC91 (1), COL6A3 (1), CSMD1 (1), EMSY (1), ERBB3 (1)	0.08317	0.22361	4.221e-33	1.520e-31	14
Bone disease	Metabolic bone disorder	14	14	ANKRD11 (2), DHCR7 (2), ALPL (2), ESR1 (2), IGF1 (2), KCNMA1 (2), LRP2 (2), MMP2 (2), SLC20A1 (2), GC (2), CYP27A1 (2), CYP2R1 (2)	0.16867	1.00000	4.578e-33	1.646e-31	303
Cardiofaciocutaneous syndrome	Noonan syndrome	12	11	BRAF (7), KRAS (8), NRAS (7), SHOC2 (7), RAF1 (7), PTPN11 (7), SOS1 (7), MAP2K1 (8), HRAS (3), MAP2K2 (8), RIT1 (6), SNAPC5 (1)	0.31579	1.00000	5.016e-33	1.800e-31	49
Respiratory system disease	Sclerosing cholangitis	42	0	DOCK3 (1), EMSY (1), ETS1 (1), HLA-DQA1 (1), HLA-DRB1 (1), IKZF1 (1), IL6R (1), JAZF1 (1), PLCL1 (1), PTCD2 (1), TSPAN14 (1), TTC33 (1)	0.09767	0.18261	6.488e-33	2.325e-31	14
Dystonia musculorum deformans	Genetic torsion dystonia	9	2	COL6A3 (1), GCH1 (1), THAP1 (1), TOR1A (2), TUBB4A (1), TAF1 (1), GNAL (1), HPCA (2), SGCE (1)	0.90000	1.00000	7.475e-33	2.661e-31	172
Epilepsy of infancy with migrating focal seizures	Malignant migrating partial seizures of infancy	9	9	KCNQ2 (3), SCN1A (3), SCN2A (2), SLC12A5 (3), TBC1D24 (2), KCNT1 (2), PLCB1 (3), PIGA (3), SLC25A22 (3)	0.90000	1.00000	7.475e-33	2.661e-31	
Crigler-najjar syndrome	Lucey-driscoll syndrome	9	1	UGT1A10 (1), UGT1A8 (1), UGT1A9 (1), UGT1A1 (6), UGT1A6 (1), UGT1A3 (1), UGT1A4 (1), UGT1A5 (1), UGT1A7 (1)	0.90000	1.00000	7.475e-33	2.661e-31	256
Congenital central hypoventilation syndrome	Haddad syndrome	9	7	RET (2), BDNF (2), GDNF (3), PAH (1), EDN3 (3), LBX1 (2), MYO1H (3), ASCL1 (1), PHOX2B (4)	0.90000	1.00000	7.475e-33	2.661e-31	331
Conduction disorder of the heart	Wolff-parkinson-white syndrome	15	0	JUP (1), RBM20 (1), TRPM4 (1), DSP (1), CACNA1C (1), MYH6 (1), CASQ2 (1), FLNC (1), KCNH2 (1), KCNQ1 (1), RYR2 (1), SCN5A (1)	0.24590	0.62500	8.298e-33	2.949e-31	3
Deficiency anemia	Vitamin b12 deficiency	11	0	FUT2 (1), TCN2 (1), CUBN (1), TCN1 (1), LRRC43 (1), CD320 (1), FUT6 (1), MMAA (1), FUT3 (1), MMUT (1), OOSP3 (1)	0.44000	1.00000	8.667e-33	3.072e-31	100
Diabetes mellitus type 2	Osteoarthritis	282	54	SOX5 (1), HMGA2 (1), NF1 (1), KANSL1 (1), CYP11B2 (2), MASP1 (1), COL2A1 (2), FGFR3 (1), LTBP3 (3), PIK3R1 (3), ADK (1), BRWD1 (1)	0.07991	0.38630	8.671e-33	3.072e-31	2
Autoimmune thyroid disease	Graves disease	27	14	IFIH1 (3), BTNL2 (2), FAM76B (1), HLA-DQA1 (2), HLA-DRB1 (2), ICOS (1), PRICKLE1 (1), PRSS36 (1), RHOH (1), IL10 (2), HLA-DQB1 (2), BACH2 (1)	0.12442	0.27273	1.021e-32	3.613e-31	
Hyperglycemia	Hyperinsulinism	17	16	INS (2), FBN1 (2), NOS3 (2), GCG (2), INSR (5), LEP (2), IL6 (2), GPX1 (2), CCL2 (2), CD40 (2), FCGR3B (1), COL3A1 (2)	0.21795	0.40476	1.236e-32	4.365e-31	35
Post-traumatic stress disorder	Substance abuse	53	4	SOX5 (1), BPTF (1), ADCY8 (2), AFF3 (1), ARHGAP15 (1), CNTNAP5 (1), CTTNBP2 (1), DCC (1), EFNA5 (1), FOXP1 (1), FOXP2 (1), GRIA1 (2)	0.07946	0.26108	1.353e-32	4.772e-31	2
autosomal recessive limb-girdle muscular dystrophy	Muscular dystrophy	13	13	SGCA (2), HMGCR (2), TRAPPC11 (2), ANO5 (2), SGCD (2), DYSF (2), SGCG (2), TCAP (2), POPDC3 (2), CAPN3 (2), JAG2 (2), SGCB (2)	0.24528	0.92857	1.522e-32	5.358e-31	131
Connective tissue disease	Thoracic aortic aneurysm and aortic dissection	20	12	FBN1 (5), NOTCH1 (2), COL5A1 (1), FBN2 (3), PRKG1 (4), FLNA (3), SMAD3 (5), ACTA2 (5), COL1A1 (1), COL3A1 (1), MYH11 (5), NDE1 (1)	0.14388	0.48780	1.765e-32	6.203e-31	
Asthma	Endometriosis	99	40	GATA4 (1), PTEN (3), ETV6 (1), RUNX1 (1), AFF3 (1), C6orf118 (1), CDK2AP1 (1), CLIC4 (1), COL12A1 (1), DDX6 (1), ERBB4 (1), ETS1 (1)	0.07355	0.26330	2.096e-32	7.354e-31	
familial thoracic aortic aneurysm and aortic dissection	Thoracic aortic aneurysm and aortic dissection	12	12	FBN1 (5), PRKG1 (4), TGFB2 (4), FLNA (3), BGN (4), FOXE3 (5), MYH11 (5), LOX (5), MYLK (5), MFAP5 (4), TGFB3 (4), MAT2A (4)	0.28571	1.00000	2.139e-32	7.494e-31	50
Loeys-dietz syndrome	Thoracic aortic aneurysm and aortic dissection	13	10	FBN1 (5), COL5A1 (1), FBN2 (3), TGFB2 (7), SMAD3 (7), COL3A1 (1), MYH11 (5), TGFBR1 (7), TGFBR2 (7), MYLK (5), TGFB3 (6), SMAD2 (7)	0.28889	0.81250	2.246e-32	7.857e-31	50
Immunodeficiency	Severe combined immunodeficiency	22	21	CARD11 (6), LAT (6), ZAP70 (3), TFRC (3), CORO1A (7), IL7R (6), CD3E (6), PTPRC (5), CD247 (5), PRKDC (7), CD3D (6), STK4 (3)	0.13018	0.43137	2.332e-32	8.146e-31	10
Cardiomegaly	Congestive heart failure	27	27	ATP2A2 (2), AGT (2), PIK3CG (2), REN (2), NOS3 (2), GSK3B (2), HMOX1 (2), IL1B (2), SOD2 (2), STAT3 (2), TNF (2), POMC (2)	0.11392	0.32143	3.285e-32	1.145e-30	
Color vision deficiency	Major depressive disorder	254	51	SOX5 (1), CASZ1 (1), DMRT1 (1), WWOX (1), PDE4D (2), DOCK6 (1), AMPD3 (1), ASB3 (1), AUTS2 (1), C12orf42 (1), C6orf118 (1), CACNA1A (1)	0.09502	0.26294	3.401e-32	1.184e-30	2
Pharyngeal disorder	Upper respiratory tract disorder	13	0	IKZF1 (1), TET2 (1), TNFRSF13B (1), NEK6 (1), IL7R (1), LTBR (1), NFKB1 (1), KRT19 (1), FBXO33 (1), ADAM23 (1), KLHL1 (1), ZBTB7A (1)	0.33333	0.65000	3.630e-32	1.262e-30	103
Hemorrhagic disease	Thrombocytopenia	17	4	JMJD1C (1), THPO (4), HBS1L (1), THADA (1), JAK2 (1), TPM4 (2), ARHGEF3 (1), BAK1 (1), CDKN2A (1), TUBB1 (2), SIRPA (1), PNPLA3 (1)	0.11806	0.80952	3.710e-32	1.288e-30	36
46,xy gonadal dysgenesis	Gonadal dysgenesis	12	11	BMP15 (2), BNC1 (2), FSHR (2), MRPS22 (1), NR5A1 (3), NUP107 (2), POLR3H (2), PSMC3IP (2), SPIDR (2), SRY (3), DHH (2), DHX37 (2)	0.37500	0.80000	3.737e-32	1.295e-30	149
Attention deficit hyperactivity disorder	Scoliosis	183	14	COMT (3), GBE1 (1), CDH2 (4), ADGRL2 (1), AFF3 (1), AKAP6 (1), ALCAM (1), ANK3 (1), ANO4 (1), ARFGEF2 (1), ASCC2 (1), BNC2 (1)	0.09356	0.17715	4.005e-32	1.386e-30	2
Major depressive disorder	Scoliosis	266	57	COMT (2), WWOX (1), COL2A1 (2), PDE4D (2), SH2B3 (1), ETV6 (1), AMPD3 (1), GFAP (1), ADARB2 (1), AKAP6 (1), ALCAM (1), ANK3 (1)	0.09751	0.25750	4.049e-32	1.399e-30	2
Macular and posterior pole degeneration	Macular degeneration	13	6	CFI (3), HERC2 (1), C3 (3), CD46 (1), PDGFB (1), RPL3 (1), CETP (1), CFH (3), RDH5 (1), ARMS2 (3), C9 (3), SKIC2 (1)	0.19118	1.00000	5.805e-32	2.002e-30	
Costello syndrome	Noonan syndrome	12	10	BRAF (7), KRAS (8), NRAS (7), SHOC2 (7), RAF1 (7), PTPN11 (7), SOS1 (7), MAP2K1 (6), HRAS (6), MAP2K2 (4), SPRED1 (1), LRRC56 (1)	0.30769	0.92308	6.511e-32	2.242e-30	49
Crigler-najjar syndrome	Gilbert syndrome	9	1	UGT1A10 (1), UGT1A8 (1), UGT1A9 (1), UGT1A1 (6), UGT1A6 (1), UGT1A3 (1), UGT1A4 (1), UGT1A5 (1), UGT1A7 (1)	0.81818	1.00000	7.475e-32	2.558e-30	256
Crigler-najjar syndrome	Perinatal disease	9	9	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A1 (7), UGT1A6 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.81818	1.00000	7.475e-32	2.558e-30	256
Lucey-driscoll syndrome	Perinatal disease	9	9	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A1 (3), UGT1A6 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.81818	1.00000	7.475e-32	2.558e-30	256
Gilbert syndrome	Lucey-driscoll syndrome	9	1	UGT1A10 (1), UGT1A8 (1), UGT1A9 (1), UGT1A1 (4), UGT1A6 (1), UGT1A3 (1), UGT1A4 (1), UGT1A5 (1), UGT1A7 (1)	0.81818	1.00000	7.475e-32	2.558e-30	256
Hereditary parkinson disease	Parkinson disease	24	22	HLA-DRA (3), LRRK2 (7), MAPT (5), PRKN (8), GSTP1 (2), ND1 (1), SNCA (8), ATXN2 (3), ATXN3 (3), PARK7 (8), GIGYF2 (5), NR4A2 (4)	0.04494	0.85714	7.891e-32	2.696e-30	
Keratinocyte carcinoma	Skin disease	26	0	TERT (1), BNC2 (1), CUX1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), MYL10 (1), SPMIP7 (1), TRPS1 (1), RALY (1), IRF4 (1), KRT5 (1)	0.11354	0.33766	7.917e-32	2.701e-30	16
Cardiofaciocutaneous syndrome	Costello syndrome	10	10	BRAF (7), KRAS (8), NRAS (3), SHOC2 (2), RAF1 (2), PTPN11 (3), SOS1 (2), MAP2K1 (7), HRAS (6), MAP2K2 (8)	0.62500	0.83333	9.165e-32	3.122e-30	49
Neuropathy, ataxia, and retinitis pigmentosa	Postaxial polydactyly	11	1	ND1 (1), ND2 (1), ATP6 (2), COX3 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.45833	0.84615	9.541e-32	3.245e-30	26
Distal hereditary motor neuropathy	Spinal muscular atrophy	15	15	TRPV4 (4), VRK1 (3), SIGMAR1 (4), BICD2 (4), DYNC1H1 (5), ATP7A (3), HSPB1 (6), REEP1 (7), PLEKHG5 (4), GARS1 (6), HSPB8 (6), IGHMBP2 (4)	0.25424	0.41667	1.029e-31	3.494e-30	13
Ventricular fibrillation	Wolff-parkinson-white syndrome	16	2	ACTN2 (1), JUP (1), RBM20 (1), TRPM4 (1), DSP (1), DPP6 (3), KCNJ2 (1), CACNA1C (1), MYH6 (1), KCNH2 (1), RYR2 (1), SCN5A (3)	0.22222	0.44444	1.061e-31	3.596e-30	3
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular dysplasia	13	13	CTNNA3 (7), DSG2 (6), JUP (5), PKP2 (7), DSP (4), RYR2 (3), SCN5A (3), DSC2 (6), LDB3 (2), MYH7 (3), TGFB3 (7), TMEM43 (6)	0.23636	0.86667	1.518e-31	5.140e-30	3
Hashimoto disease	Thyroid disease	15	2	SH2B3 (1), FAM76B (1), HLA-DQA1 (1), ICOS (1), ATXN2 (1), BACH2 (1), CTLA4 (3), IL2RA (1), PTPN22 (1), TG (3), STAT4 (1), CD69 (1)	0.22727	0.55556	2.145e-31	7.251e-30	309
Brain ischemia	Pulmonary fibrosis	22	22	CAT (2), ACE (2), PLAU (2), HSPA1B (2), IGF1 (2), IL1A (2), IL1B (2), PARP1 (2), STAT3 (2), TNF (2), IL6 (2), PTGS2 (2)	0.14103	0.31429	2.209e-31	7.456e-30	
Hyperlipoproteinemia	Ischemic heart disease	21	12	AMPD1 (1), ABCA1 (2), ABCG8 (1), APOB (2), APOE (5), EPHX2 (1), LDLR (2), LIPC (2), NOS3 (1), ADRB3 (1), HMGCR (2), IRS1 (1)	0.11053	0.52500	2.458e-31	8.284e-30	
Atherosclerosis	Ischemic heart disease	29	24	APOA1 (2), ABCA1 (2), APOB (2), APOE (3), LDLR (3), SERPINE1 (2), VEGFA (2), NOS3 (2), AGER (2), ESR1 (2), MTHFR (1), PON1 (2)	0.11111	0.24370	2.730e-31	9.186e-30	73
Congenital stationary night blindness	Oguchi disease	10	10	CACNA1F (2), PDE6B (4), TRPM1 (3), RHO (4), GNB3 (3), GNAT1 (3), GRM6 (3), LRIT3 (3), NYX (3), SLC24A1 (3)	0.58824	0.83333	3.207e-31	1.078e-29	160
Graves disease	Thyroid disease	20	10	FAM76B (1), HLA-DQA1 (2), ICOS (1), VEGFA (2), HLA-DQB1 (2), CCR6 (1), BACH2 (1), CEP43 (1), CTLA4 (3), IL2RA (1), PTPN22 (3), TG (3)	0.15038	0.37736	3.237e-31	1.086e-29	309
Skin cancer	Vitiligo	24	9	FADS1 (1), FADS2 (1), FAM76B (1), FOXP1 (3), HERC2 (1), HLA-DQA1 (2), HLA-DRB1 (2), ICOS (1), RALY (1), IRF4 (1), CCR6 (3), BACH2 (3)	0.12834	0.28571	3.480e-31	1.166e-29	
Duodenal ulcer	Gastric ulcer	16	4	CCKBR (1), FUT2 (1), MECOM (1), PRKAA1 (1), TTC33 (1), PTGS2 (2), ABO (3), NOS2 (2), JRK (1), PSCA (3), PLCL2 (1), ZNF800 (1)	0.21333	0.43243	3.848e-31	1.287e-29	
Cataract	Congenital total cataract	16	16	LSS (6), CRYBB2 (6), PGRMC1 (2), CRYAA (6), EPHA2 (6), GJA8 (5), DNMBP (6), HSF4 (5), LIM2 (6), MIP (6), GCNT2 (6), FYCO1 (5)	0.07921	1.00000	3.880e-31	1.296e-29	51
Ciliary dyskinesia, with or without situs inversus	Polynesian bronchiectasis	9	0	MBL2 (1), DNAH5 (1), CCDC40 (1), DNAH11 (1), DNAI1 (1), DNAAF3 (1), DNAAF19 (1), DNAAF4 (1), DRC1 (1)	0.75000	1.00000	4.111e-31	1.371e-29	9
Cone-rod dystrophy	Stargardt disease	16	6	ABCA4 (7), CNGB3 (2), PRPH2 (4), CRB1 (1), CRX (8), PROM1 (6), RPE65 (1), GPHN (1), EYS (1), OPA1 (1), KCNV2 (1), CERKL (1)	0.18391	0.57143	4.140e-31	1.378e-29	7
Biliary cholangitis	Sclerosing cholangitis	34	12	SH2B3 (1), ETS1 (1), HLA-DQA1 (2), HLA-DRA (1), IKZF1 (1), ATXN2 (1), HLA-DQB1 (1), ATG5 (1), CCR6 (1), CCL20 (1), CD226 (1), CEP43 (1)	0.09884	0.23129	4.274e-31	1.421e-29	
Developmental and epileptic encephalopathy	Seizures	33	29	FOXG1 (3), ATP1A3 (5), ABAT (4), HCN1 (5), KCNQ2 (7), RBFOX1 (2), SCN8A (7), SLC6A1 (2), GABRG2 (6), CHRNA4 (2), GABRA1 (5), GRIA3 (1)	0.10030	0.23404	4.890e-31	1.623e-29	
Hypertension	Kidney disease	108	54	COL4A5 (1), INS (2), APOA1 (2), TERT (3), SPI1 (1), COL4A4 (1), ACE (2), ACTN4 (2), AGT (3), ANXA1 (2), BCAS3 (1), CHRM3 (1)	0.07362	0.25412	5.452e-31	1.807e-29	
Graves disease	Vitiligo	25	14	IFIH1 (3), BTNL2 (2), FAM76B (1), HLA-DQA1 (2), HLA-DRB1 (2), ICOS (1), RHOH (1), TNF (2), HLA-DQB1 (2), VDR (1), IFNG (2), CCR6 (3)	0.12438	0.25253	6.004e-31	1.987e-29	309
Insomnia	Willis-ekbom disease	68	3	SMPD1 (1), ADGRB3 (1), ASB3 (1), ATP2C1 (1), BTBD9 (3), CAMTA1 (1), CNTNAP5 (1), CTNNA3 (1), DAB1 (1), EXD3 (1), GRIA1 (1), GRIK3 (1)	0.05653	0.35602	6.499e-31	2.147e-29	2
Thyroid disease	Vitiligo	21	8	SH2B3 (3), FAM76B (1), HLA-DQA1 (2), ICOS (1), ATXN2 (1), HLA-DQB1 (2), NEK6 (1), CCR6 (3), BACH2 (3), CTLA4 (2), IL2RA (1), PHTF1 (1)	0.13208	0.39623	6.634e-31	2.189e-29	309
Gilbert syndrome	Perinatal disease	9	9	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A1 (5), UGT1A6 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.75000	0.90000	7.474e-31	2.462e-29	256
Oropharyngeal cancer	Upper aerodigestive tract neoplasm	23	0	HLA-DQA1 (1), HLA-DRB1 (1), LAMC3 (1), RBFOX1 (1), RERGL (1), IL1A (1), IL1B (1), CCDC192 (1), HLA-DQB1 (1), CTLA4 (1), MUC22 (1), MACO1 (1)	0.11558	0.38333	9.242e-31	3.040e-29	
Idiopathic pulmonary fibrosis	Interstitial lung disease	20	13	RTEL1 (4), TERT (6), DEPTOR (1), MAPT (1), IVD (1), DSP (4), MUC5B (6), AKAP13 (1), MUC5AC (1), SFTPC (5), SPDL1 (1), STN1 (4)	0.15504	0.30303	9.278e-31	3.047e-29	
Congenital ichthyosis	Lamellar ichthyosis	10	10	TGM1 (4), SDR9C7 (3), ABCA12 (6), ALOX12B (4), ALOXE3 (4), CYP4F22 (5), PNPLA1 (3), NIPAL4 (4), LIPN (5), CERS3 (3)	0.55556	0.76923	1.390e-30	4.557e-29	232
Congenital myasthenic syndrome	Postsynaptic congenital myasthenic syndrome	11	11	SCN4A (5), AGRN (5), CHRNE (5), RAPSN (5), CHRND (5), CHRNA1 (5), MUSK (5), CHRNB1 (6), LRP4 (6), COL13A1 (5), DOK7 (6)	0.35484	0.91667	1.440e-30	4.715e-29	5
Liver cirrhosis	Liver disease	36	25	SERPINA1 (3), APOC1 (1), APOE (1), ATP7B (2), CYP1A2 (2), NPC1 (2), SERPINE1 (2), SPP1 (2), TRIB1 (1), HFE (1), ALDH2 (2), GSTT1 (1)	0.09326	0.22930	1.529e-30	4.999e-29	288
Congenital ichthyosiform erythroderma	Congenital nonbullous ichthyosiform erythroderma	9	9	TGM1 (3), SDR9C7 (2), SULT2B1 (2), ABCA12 (3), ALOX12B (3), ALOXE3 (3), PNPLA1 (3), NIPAL4 (3), CERS3 (3)	0.69231	1.00000	1.644e-30	5.369e-29	232
Long qt syndrome	Polymorphic catecholaminergic ventricular tachycardia	14	11	PKP2 (1), CALM1 (6), KCNJ2 (2), CACNA1C (6), TECRL (2), CALM2 (6), CALM3 (7), CASQ2 (2), RYR2 (2), SCN5A (8), TRDN (5), MYBPC3 (1)	0.13462	0.93333	1.847e-30	6.021e-29	3
Muscular dystrophy	Myopathy	20	1	COL6A3 (1), DAG1 (1), DMD (1), PLEC (1), HMGCR (1), CRPPA (1), TRAPPC11 (1), ANO5 (1), SMCHD1 (1), TTN (1), DYSF (1), LAMA2 (1)	0.13889	0.39216	1.859e-30	6.052e-29	131
Diabetic nephropathy type 2	Diabetic retinopathy	16	2	CDKAL1 (2), HMG20A (1), JAZF1 (1), MACF1 (1), NYAP2 (1), TCF7L2 (1), FTO (1), ASCL2 (1), GPSM1 (1), ZMIZ1 (1), KCNQ1 (1), SLC30A8 (1)	0.09581	0.88889	1.950e-30	6.337e-29	
Diabetes mellitus type 1	Sarcoidosis	45	21	SH2B3 (3), ACE (1), BTNL2 (5), HLA-C (1), HLA-DQA1 (3), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (5), HLA-DRB5 (1), OR5V1 (1), TNXB (1), XYLT1 (2)	0.07550	0.27607	2.058e-30	6.680e-29	47
Lung neoplasms	Non-small-cell lung carcinoma	34	0	TERT (1), TP53 (1), CDH13 (1), EGFR (1), ERCC1 (1), GSTP1 (1), IL10 (1), NFE2L2 (1), STAT3 (1), GCLC (1), XPC (1), FHIT (1)	0.09366	0.23944	3.815e-30	1.236e-28	4
Ovarian neoplasms	Pancreatic neoplasms	26	4	PTEN (1), TERT (1), TP53 (1), TP63 (2), EGFR (1), EPCAM (1), MECOM (2), MSH2 (2), SOD2 (1), STAT3 (1), CTNNB1 (1), KRAS (1)	0.11659	0.22222	4.264e-30	1.380e-28	4
Cutaneous squamous cell carcinoma	Seborrheic keratosis	14	0	TP63 (1), BNC2 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), LPP (1), TYR (1), CASP8 (1), CPVL (1), FLACC1 (1), KRT6A (1)	0.25000	0.45161	5.208e-30	1.683e-28	16
Leber hereditary optic neuropathy	Neuropathy, ataxia, and retinitis pigmentosa	11	7	ND1 (2), ND2 (2), ATP6 (2), COX3 (2), ATP8 (1), COX1 (1), ND5 (2), COX2 (1), ND3 (1), ND4 (2), ND4L (2)	0.35484	0.84615	5.804e-30	1.873e-28	26
Combined immunodeficiency disease	Severe combined immunodeficiency	16	16	CARD11 (5), LRBA (4), ZAP70 (6), DOCK8 (5), TFRC (3), CD70 (4), FOXN1 (2), STK4 (5), RAG1 (6), CARMIL2 (3), IL2RG (2), MALT1 (4)	0.20000	0.36364	5.945e-30	1.915e-28	10
Hypotrichosis	Hypotrichosis simplex	10	9	LSS (6), APCDD1 (6), KRT74 (6), CDSN (6), CDH3 (1), DSG4 (6), LIPH (5), LPAR6 (7), RPL21 (6), SNRPE (6)	0.50000	0.83333	6.229e-30	2.004e-28	
Cholelithiasis	Liver cirrhosis	34	34	CAT (2), SERPINA1 (3), AGT (2), CYP1A2 (2), SERPINE1 (2), MPO (2), NOS3 (2), ICAM1 (2), IGF1 (2), NFE2L2 (2), TNF (2), IL6 (2)	0.09189	0.24460	6.623e-30	2.128e-28	
Arrhythmogenic right ventricular cardiomyopathy	Conduction disorder of the heart	14	8	DMD (1), DSG2 (6), JUP (5), PKP2 (7), RBM20 (1), TRPM4 (1), DSP (4), MYH6 (1), FLNC (1), RYR2 (3), SCN5A (3), MYH7 (3)	0.22222	0.58333	7.058e-30	2.264e-28	3
Jeune thoracic dystrophy	Majewski syndrome	11	0	EVC2 (1), NEK1 (1), IFT80 (1), DYNC2H1 (1), DYNC2LI1 (1), IFT172 (1), TTC21B (1), WDR35 (1), IFT74 (1), FUZ (1), TRAF3IP1 (1)	0.31429	0.91667	8.053e-30	2.580e-28	19
Ruptured abdominal aortic aneurysm	Ruptured aortic aneurysm	8	0	SKI (1), FBN1 (1), AGT (1), ELN (1), SMAD3 (1), MMP9 (1), EFEMP2 (1), TGFBR2 (1)	0.88889	1.00000	1.278e-29	4.059e-28	64
Ruptured abdominal aortic aneurysm	Ruptured thoracic aortic aneurysm	8	0	SKI (1), FBN1 (1), AGT (1), ELN (1), SMAD3 (1), MMP9 (1), EFEMP2 (1), TGFBR2 (1)	0.88889	1.00000	1.278e-29	4.059e-28	64
Ruptured abdominal aortic aneurysm	Thoracoabdominal aortic aneurysm	8	0	SKI (1), FBN1 (1), AGT (1), ELN (1), SMAD3 (1), MMP9 (1), EFEMP2 (1), TGFBR2 (1)	0.88889	1.00000	1.278e-29	4.059e-28	64
Ruptured aortic aneurysm	Ruptured thoracic aortic aneurysm	8	0	SKI (1), FBN1 (1), AGT (1), ELN (1), SMAD3 (1), MMP9 (1), EFEMP2 (1), TGFBR2 (1)	0.88889	1.00000	1.278e-29	4.059e-28	64
Ruptured aortic aneurysm	Thoracoabdominal aortic aneurysm	8	0	SKI (1), FBN1 (1), AGT (1), ELN (1), SMAD3 (1), MMP9 (1), EFEMP2 (1), TGFBR2 (1)	0.88889	1.00000	1.278e-29	4.059e-28	64
Ruptured thoracic aortic aneurysm	Thoracoabdominal aortic aneurysm	8	0	SKI (1), FBN1 (1), AGT (1), ELN (1), SMAD3 (1), MMP9 (1), EFEMP2 (1), TGFBR2 (1)	0.88889	1.00000	1.278e-29	4.059e-28	64
Conduction disorder of the heart	Ventricular fibrillation	13	1	DSG2 (1), JUP (1), PKP2 (1), RBM20 (1), TRPM4 (1), DSP (1), CACNA1C (1), MYH6 (1), KCNH2 (1), RYR2 (1), SCN5A (3), TTN (1)	0.27083	0.54167	1.300e-29	4.121e-28	3
Congenital ichthyosiform erythroderma	Lamellar ichthyosis	9	9	TGM1 (2), SDR9C7 (3), SULT2B1 (3), ABCA12 (3), ALOX12B (3), ALOXE3 (3), PNPLA1 (2), NIPAL4 (2), CERS3 (2)	0.60000	1.00000	1.496e-29	4.738e-28	232
Alzheimer disease	Metabolic syndrome	335	38	ANKRD11 (1), HSPG2 (1), RERE (1), JMJD1C (1), RREB1 (1), INS (2), GATA4 (2), ZFPM2 (1), APOA1 (2), PDE4D (1), ADK (1), ABCA1 (2)	0.10511	0.25710	1.534e-29	4.850e-28	2
Bilirubin metabolism disease	Gilbert syndrome	9	9	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A6 (2), SLCO1B1 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.64286	0.90000	1.644e-29	5.191e-28	256
Gout	Hypertension	157	38	INS (3), SRD5A2 (1), ATP2A2 (2), PIK3R1 (1), CHEK2 (1), SPI1 (1), CDH2 (1), ALG9 (1), COL4A4 (2), ALDH1A2 (1), APOC1 (1), AUTS2 (1)	0.08664	0.19170	1.800e-29	5.676e-28	
Leber congenital amaurosis	Macular dystrophy	17	6	ABCA4 (1), CNGB3 (1), PRPH2 (3), PDE6B (1), TTC8 (1), USH2A (1), CRB1 (6), CRX (6), GUCY2D (6), PROM1 (3), OTX2 (1), GPHN (1)	0.17000	0.38636	1.982e-29	6.240e-28	7
Colonic neoplasms	Colorectal neoplasms	40	3	DPYD (1), TP53 (1), EGFR (1), IGF2 (1), RHPN2 (2), SRC (1), TCF7L2 (1), TET2 (2), BAX (1), BCL2 (1), MTHFR (1), PPARG (1)	0.08791	0.19704	2.065e-29	6.493e-28	4
Cleft palate and bilateral cleft lip	Leber hereditary optic neuropathy	11	7	ND1 (2), ND2 (2), ATP6 (2), COX3 (2), ATP8 (1), COX1 (1), ND5 (2), COX2 (1), ND3 (1), ND4 (2), ND4L (2)	0.34375	0.78571	2.706e-29	8.494e-28	26
Coronary artery disease	Gout	156	24	SKI (1), JMJD1C (1), COL4A4 (1), ABCA1 (2), ADGRL2 (1), ADH5 (1), ALDH1A2 (1), ANKRD55 (1), APH1B (2), APOC1 (1), BAZ1B (1), BCAS3 (1)	0.08633	0.19048	3.232e-29	1.013e-27	
Coloboma	Congenital ocular coloboma	11	9	ACTB (2), ELP4 (1), PAX6 (4), RAX (2), ALDH7A1 (2), LAMB1 (2), MYH10 (2), ACTG1 (2), FZD5 (1), SALL2 (2), SLBP (2)	0.35484	0.73333	3.649e-29	1.142e-27	25
complex neurodevelopmental disorder	Nonsyndromic intellectual disability	26	26	EPB41L1 (3), GRIA1 (3), GRIK2 (4), GRIN2B (3), KCNQ2 (3), NBEA (3), PRICKLE2 (3), SCN8A (3), ST3GAL3 (3), ZNF292 (2), CIC (3), RSRC1 (4)	0.11111	0.22034	4.246e-29	1.327e-27	6
Leber hereditary optic neuropathy	Rod-cone dystrophy	13	9	LRAT (2), ND1 (2), ND2 (2), RPE65 (2), ATP6 (2), COX3 (2), ATP8 (1), COX1 (1), ND5 (2), COX2 (1), ND3 (1), ND4 (2)	0.26531	0.46429	4.822e-29	1.505e-27	26
Neuropathy, ataxia, and retinitis pigmentosa	Rod-cone dystrophy	11	1	ND1 (1), ND2 (1), ATP6 (2), COX3 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.30556	0.84615	5.228e-29	1.630e-27	26
Cardiac arrest	Ventricular fibrillation	13	4	INS (2), CACNB2 (1), DSG2 (1), TRPM4 (1), DSP (1), DPP6 (3), MYH6 (1), RYR2 (1), SCN5A (3), CACNA2D1 (1), PDZRN4 (1), AKAP9 (1)	0.26000	0.50000	5.400e-29	1.681e-27	3
Melas syndrome	Neuropathy, ataxia, and retinitis pigmentosa	10	6	ND1 (2), ND2 (1), ATP6 (2), COX3 (2), ATP8 (1), COX1 (2), ND5 (2), COX2 (2), ND3 (1), ND4 (1)	0.45455	0.76923	6.070e-29	1.887e-27	26
Ehlers-danlos syndrome	Marfan syndrome	15	15	FBN1 (7), NOTCH1 (2), COL5A1 (8), FBN2 (2), SLC2A10 (2), TGFB2 (2), FLNA (2), SMAD3 (2), COL1A1 (7), COL3A1 (7), MYH11 (2), TGFBR1 (3)	0.20548	0.34884	6.730e-29	2.089e-27	50
Atopic dermatitis	Rhinitis	18	9	CCL24 (2), EMSY (3), MS4A2 (1), BDNF (1), IL10 (2), IL1B (2), IL2 (1), IL4 (2), MBL2 (1), TLR4 (1), TNF (1), IFNG (2)	0.15789	0.27692	8.105e-29	2.512e-27	46
Celiac disease	Polyarticular juvenile idiopathic arthritis	19	8	RUNX1 (1), ANKRD55 (2), UBE2L3 (1), IL2 (1), RUNX3 (3), ATXN2 (1), HLA-DQB1 (4), IRF1 (1), IL21 (3), IL2RA (3), LTBR (1), PHTF1 (1)	0.09179	0.59375	8.926e-29	2.763e-27	
Ear, patella, short stature syndrome	Meier-gorlin syndrome	9	8	CDC45 (7), CDC6 (7), CDT1 (7), GMNN (7), ORC1 (6), DONSON (1), GINS3 (2), ORC4 (7), ORC6 (7)	0.60000	0.81818	9.041e-29	2.791e-27	175
Vitamin b deficiency	Vitamin b12 deficiency	9	1	FUT2 (2), TCN2 (1), CUBN (1), TCN1 (1), CD320 (1), FUT6 (1), MMAA (1), MMUT (1), OOSP3 (1)	0.60000	0.81818	9.041e-29	2.791e-27	100
Left ventricular noncompaction cardiomyopathy	Wolff-parkinson-white syndrome	15	0	PRDM16 (1), ACTN2 (1), JUP (1), RBM20 (1), DSP (1), MYH6 (1), RYR2 (1), SCN5A (1), MYBPC3 (1), MYH7 (1), TTN (1), ACTC1 (1)	0.20000	0.39474	9.521e-29	2.935e-27	3
Myasthenic syndrome	Postsynaptic congenital myasthenic syndrome	11	11	SCN4A (4), AGRN (5), CHRNE (5), RAPSN (5), CHRND (5), CHRNA1 (7), MUSK (5), CHRNB1 (5), LRP4 (5), COL13A1 (5), DOK7 (3)	0.26190	0.91667	9.616e-29	2.960e-27	5
Accessory skin tag	Benign pemphigus	8	0	ALDH18A1 (1), ATP6V0A2 (1), ELN (1), EFEMP2 (1), FBLN5 (1), ATP6V1A (1), ATP6V1E1 (1), PYCR1 (1)	0.80000	1.00000	1.150e-28	3.531e-27	94
Accessory skin tag	Darier disease	8	0	ALDH18A1 (1), ATP6V0A2 (1), ELN (1), EFEMP2 (1), FBLN5 (1), ATP6V1A (1), ATP6V1E1 (1), PYCR1 (1)	0.80000	1.00000	1.150e-28	3.531e-27	94
Arrhythmogenic right ventricular cardiomyopathy	Left ventricular disease	17	13	ABCC9 (1), JUP (5), PKP2 (8), PRKAG2 (1), DSP (4), MYH6 (1), LMNA (3), RYR2 (3), DSC2 (5), LDB3 (3), MYBPC3 (8), MYH7 (5)	0.16667	0.32692	1.159e-28	3.554e-27	3
Gastroesophageal reflux disease	Peptic ulcer disease	32	0	DPYD (1), BCL3 (1), BLOC1S3 (1), CCKBR (1), CDH4 (1), CNTNAP2 (1), CR1L (1), FOXP1 (1), H3C12 (1), HLA-DQB3 (1), HLA-DRA (1), HYAL2 (1)	0.08672	0.26446	1.359e-28	4.161e-27	
Colorectal neoplasms	Pancreatic neoplasms	32	5	DPYD (1), TP53 (1), TP63 (2), EGFR (1), EPCAM (1), MSH2 (2), MSH6 (2), PPARG (1), SOD2 (1), TNF (1), EFEMP1 (1), PTGS2 (1)	0.08488	0.27350	1.624e-28	4.962e-27	4
Peripheral neuropathy	Peroneal muscle atrophy	20	2	DHTKD1 (1), AARS1 (1), SLC12A6 (1), MME (1), DYNC1H1 (1), MFN2 (1), NEFL (2), COX6A1 (1), DYSF (1), SH3TC2 (1), PLEKHG5 (1), AIFM1 (1)	0.09434	0.51282	1.686e-28	5.147e-27	
Cleft palate and bilateral cleft lip	Melas syndrome	10	5	ND1 (2), ND2 (1), ATP6 (1), COX3 (2), ATP8 (1), COX1 (2), ND5 (2), COX2 (2), ND3 (1), ND4 (1)	0.43478	0.71429	2.124e-28	6.473e-27	26
familial thoracic aortic aneurysm and aortic dissection	Marfan syndrome	11	11	FBN1 (7), PRKG1 (2), TGFB2 (3), FLNA (2), BGN (2), MYH11 (3), LOX (2), MYLK (3), MFAP5 (2), TGFB3 (2), MAT2A (2)	0.24444	0.91667	2.392e-28	7.281e-27	50
Cleft palate and bilateral cleft lip	Rod-cone dystrophy	11	0	ND1 (1), ND2 (1), ATP6 (1), COX3 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.29730	0.78571	2.436e-28	7.406e-27	26
Pulmonary arterial hypertension	Pulmonary hypertension	16	16	TBX4 (3), BMPR1B (2), CBLN2 (2), EIF2AK4 (3), CAV1 (7), SMAD4 (2), SMAD9 (8), ENG (2), KCNA5 (2), BMPR2 (8), GDF2 (5), KCNK3 (6)	0.17582	0.35556	2.556e-28	7.759e-27	
Postaxial polydactyly	Rod-cone dystrophy	12	0	ND1 (1), ND2 (1), ATP6 (1), COX3 (1), BBIP1 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.27907	0.57143	2.792e-28	8.464e-27	26
Connective tissue disease	Osteochondrodysplasias	17	7	HSPG2 (2), SLC26A2 (1), COL2A1 (2), COL11A1 (2), DYM (1), FLNB (1), TRPV4 (2), FLNA (2), COL11A2 (1), COMP (1), COL9A1 (2), COL9A2 (1)	0.12687	0.51515	2.951e-28	8.932e-27	44
Hepatocellular carcinoma	Liver neoplasms	47	7	TERT (2), TP53 (4), SCD (1), BRAF (1), CDKN2B (1), FST (1), HLA-DQA1 (1), IGF2 (1), MAU2 (1), ESR1 (2), NFE2L2 (1), PPARG (1)	0.06225	0.30921	3.429e-28	1.037e-26	
Atopic dermatitis	Hypersensitivity	18	18	CCL24 (2), MS4A2 (2), IL10 (2), IL1B (2), IL4 (2), TNF (2), IL6 (2), TGFB1 (2), IFNG (2), CYP1A1 (2), CXCR3 (2), IL13 (2)	0.15126	0.27273	3.719e-28	1.123e-26	46
Cor pulmonale	Heart disease	14	0	FGA (1), APOC1 (1), PLCG2 (1), SLC14A2 (1), F2 (1), ABO (1), SLC19A2 (1), F5 (1), SLC44A2 (1), FGG (1), PROCR (1), F11 (1)	0.09459	0.93333	3.734e-28	1.126e-26	
Head and neck neoplasms	Oropharyngeal cancer	16	0	LAMC3 (1), RERGL (1), IL1A (1), IL1B (1), CCDC192 (1), HLA-DQB1 (1), CTLA4 (1), MACO1 (1), STK31 (1), CBLB (1), ADH1C (1), NAA25 (1)	0.17391	0.34043	4.368e-28	1.315e-26	
Marshall syndrome	Stickler syndrome	10	10	COL2A1 (7), COL11A1 (6), BMP4 (4), LRP2 (2), VCAN (2), COL11A2 (2), COL9A1 (8), COL9A2 (7), COL9A3 (8), LOXL3 (3)	0.41667	0.71429	4.482e-28	1.346e-26	308
Digestive system disease	Gastrointestinal disease	16	13	CHD8 (2), CRTC1 (1), FOXP1 (1), MTHFR (2), NFE2L2 (2), POMC (2), CSF3 (2), KEAP1 (2), CCK (2), MYLK (2), EDN1 (2), ABCC2 (2)	0.14545	0.50000	4.481e-28	1.346e-26	
complex neurodevelopmental disorder	Developmental and epileptic encephalopathy	29	29	GABRD (2), HNRNPU (5), CHD2 (5), CNTNAP2 (3), GRIN2B (5), KCNQ2 (7), MEF2C (2), NRXN2 (2), SCN8A (7), ST3GAL3 (4), GRIN2A (4), KCNB1 (7)	0.09355	0.24576	5.070e-28	1.520e-26	6
Brain ischemia	Cerebrovascular disorder	19	19	ACE (2), PLAU (2), F2 (2), ICAM1 (2), IL1B (2), MTHFR (2), TNF (2), IL6 (2), PLAT (2), PTGS2 (2), SOD1 (2), ALB (2)	0.13971	0.27143	5.761e-28	1.725e-26	
Hereditary breast and ovarian cancer syndrome	Hereditary breast cancer	11	11	CHEK2 (2), NBN (2), RAD51 (2), RAD50 (2), ATM (2), MRE11 (2), BARD1 (2), PALB2 (2), BRCA2 (4), BRIP1 (3), BRCA1 (4)	0.29730	0.73333	6.085e-28	1.819e-26	39
Movement disorder	Periodic limb movement disorder	11	0	BTBD9 (1), CNTNAP5 (1), EMB (1), HCN1 (1), MAP2K5 (1), PTPRD (1), MYT1 (1), MEIS1 (1), CCDC148 (1), STK33 (1), LMO1 (1)	0.18966	1.00000	6.406e-28	1.913e-26	
Hyperalgesia	Trigeminal neuralgia	12	12	GFAP (2), IL1B (2), TNF (2), FOS (2), MAPK1 (2), MAPK3 (2), PRKCG (2), CALCA (2), GRIN1 (2), AIF1 (2), MAPK8 (2), MAPK9 (2)	0.13333	1.00000	6.428e-28	1.917e-26	
22q11.2 deletion syndrome	Digeorge syndrome	9	9	ARVCF (2), COMT (3), GP1BB (2), HIRA (2), JMJD1C (3), RREB1 (3), SEC24C (3), TBX1 (6), UFD1 (2)	0.45000	1.00000	6.905e-28	2.056e-26	
Gastroesophageal reflux disease	Post-traumatic stress disorder	38	0	AFF3 (1), CNTNAP5 (1), CSMD1 (1), DCC (1), FOXP1 (1), FOXP2 (1), GRM8 (1), IP6K1 (1), KAZN (1), LINC02210-CRHR1 (1), MAD1L1 (1), MAPT (1)	0.08539	0.18719	8.581e-28	2.552e-26	2
Benign pemphigus	Darier disease	8	0	ALDH18A1 (1), ATP6V0A2 (1), ELN (1), EFEMP2 (1), FBLN5 (1), ATP6V1A (1), ATP6V1E1 (1), PYCR1 (1)	0.72727	0.88889	1.035e-27	3.075e-26	94
Autoimmune thyroid disease	Hyperthyroidism	20	8	HLA-DQA1 (2), HLA-DRA (2), HLA-DRB1 (2), ICOS (1), PDE10A (1), TAP2 (1), HLA-DQB1 (2), BACH2 (1), CTLA4 (2), IL2RA (1), PHTF1 (1), PTPN22 (2)	0.11236	0.37736	1.042e-27	3.092e-26	
Biliary cirrhosis	Sclerosing cholangitis	30	9	SH2B3 (1), ETS1 (1), HLA-DQA1 (2), HLA-DRA (1), ATXN2 (1), HLA-DQB1 (1), ATG5 (1), CCR6 (1), CCL20 (1), CD226 (1), CEP43 (1), CLEC16A (2)	0.09119	0.23438	1.068e-27	3.164e-26	
Congenital ichthyosis	Congenital nonbullous ichthyosiform erythroderma	9	9	TGM1 (4), SDR9C7 (2), ABCA12 (4), ALOX12B (4), ALOXE3 (4), PNPLA1 (4), NIPAL4 (3), CERS3 (4), CASP14 (2)	0.52941	0.75000	1.175e-27	3.476e-26	232
Congenital cataract	Lamellar cataract	11	11	BFSP2 (4), CRYAA (4), CRYBA4 (3), CRYGC (4), CRYAB (3), CRYGD (3), CRYGS (3), HSF4 (4), MIP (3), CRYBA1 (4), CRYGB (3)	0.18033	1.00000	1.190e-27	3.515e-26	51
Macular dystrophy	Optic atrophy	20	3	ABCA4 (1), CNGA3 (1), CNGB3 (1), PRPH2 (2), CACNA1F (1), USH2A (1), CRB1 (1), GUCY2D (1), PROM1 (3), EFEMP1 (1), OTX2 (1), GPHN (1)	0.09709	0.45455	1.196e-27	3.528e-26	7
Atherosclerosis	Congestive heart failure	27	25	AGT (2), APOC1 (2), APOE (3), SERPINE1 (2), VEGFA (2), NOS3 (2), PON1 (2), PPARG (2), SOD2 (2), STAT3 (2), TNF (2), IL6 (3)	0.09926	0.22689	1.286e-27	3.788e-26	
Cardiac arrhythmia	Wolff-parkinson-white syndrome	18	15	COL5A1 (1), TBX5 (2), DSP (1), KCNJ2 (2), CACNA1C (2), PITX2 (2), MYH6 (2), CASQ2 (2), FLNC (2), KCNH2 (2), KCNQ1 (2), LMNA (2)	0.13636	0.35294	1.332e-27	3.918e-26	3
Crest syndrome	Systemic sclerosis	15	7	FBN1 (1), DGKQ (1), HLA-DRB1 (2), CAV1 (2), ATG5 (1), CCR6 (2), IRF5 (3), FCGR2B (1), FCGR3B (1), STAT4 (2), TNPO3 (1), CCN2 (2)	0.11111	0.71429	1.397e-27	4.104e-26	22
Brugada syndrome	Cardiac arrhythmia	19	16	COL5A1 (1), PKP2 (5), TBX5 (1), DSP (1), KCNJ2 (2), CACNA1C (7), KCNH2 (4), KCNQ1 (2), RYR2 (2), SCN5A (8), TTN (2), ANK2 (7)	0.13287	0.30159	1.444e-27	4.239e-26	3
Ciliary dyskinesia, with or without situs inversus	Congenital nasopharyngeal atresia	10	0	DNAH5 (1), CCDC40 (1), DNAH11 (1), DNAI1 (1), RSPH4A (1), DNAAF3 (1), DNAAF19 (1), DNAAF4 (1), DRC1 (1), ODAD3 (1)	0.31250	0.90909	1.603e-27	4.699e-26	9
Bradycardia	Hypotension	14	0	AGT (1), CRH (1), GCG (1), PRL (1), PDYN (1), POMC (1), TAC1 (1), DRD2 (1), KNG1 (1), EDN1 (1), ADORA1 (1), EDN3 (1)	0.17500	0.53846	1.893e-27	5.533e-26	66
Cystic fibrosis	Lung disease	19	12	SERPINA1 (4), MPO (2), GSTT1 (1), IL1B (1), TNF (2), GSTM1 (1), PTGS2 (2), TGFB1 (5), SCNN1A (2), MIF (3), MUC4 (1), ADRB2 (2)	0.13103	0.30645	1.892e-27	5.533e-26	133
Colonic neoplasms	Stomach neoplasms	39	1	HNF1B (1), DPYD (1), TP53 (1), CDX2 (1), EGFR (1), FBP1 (1), PRR5-ARHGAP8 (1), SYMPK (2), IL1B (1), MTHFR (1), PPARG (1), SOD2 (1)	0.08280	0.19212	2.079e-27	6.069e-26	4
Cryptogenic west syndrome	Infantile spasms	8	0	CRH (1), POMC (1), STXBP1 (1), TSC2 (1), TSC1 (1), UPB1 (1), HSD17B4 (1), MC2R (1)	0.66667	1.00000	2.109e-27	6.132e-26	337
Idiopathic basal ganglia calcification	Primary familial brain calcification	8	8	PDGFRB (6), XPR1 (6), PDGFB (7), JAM2 (6), SLC20A2 (5), CMPK2 (5), MYORG (6), NAA60 (5)	0.66667	1.00000	2.109e-27	6.132e-26	411
Posterior polar cataract	Posterior subcapsular cataract	8	8	PITX3 (3), EPHA2 (3), CHMP4B (3), CRYAB (3), MIP (2), PANK4 (3), CRYBA1 (3), GJA3 (2)	0.66667	1.00000	2.109e-27	6.132e-26	51
Cone dystrophy	Macular dystrophy	14	3	ABCA4 (1), CNGA3 (1), CNGB3 (3), PRPH2 (2), CACNA1F (1), PDE6B (1), USH2A (1), CRB1 (1), GUCY2D (1), CERKL (1), GUCA1A (7), RPGR (1)	0.20290	0.36842	2.215e-27	6.432e-26	7
Coronary artery disease	Venous thromboembolism	90	14	JMJD1C (1), ZFPM2 (1), SH2B3 (3), ADGRL2 (1), ADH5 (1), BTNL2 (2), CPS1 (1), CUX2 (1), DCHS2 (1), FADS1 (1), FADS2 (1), HINT1 (1)	0.06447	0.26316	2.682e-27	7.777e-26	34
Pharyngeal disorder	Respiratory system disease	19	0	IKZF1 (1), TET2 (1), TNFRSF13B (1), ABO (1), IL7R (1), ITGAL (1), LTBR (1), NFKB1 (1), HORMAD2 (1), DYSF (1), ADSS1 (1), SLC20A2 (1)	0.07480	0.61290	2.901e-27	8.402e-26	
Congenital nonbullous ichthyosiform erythroderma	Lamellar ichthyosis	9	9	TGM1 (3), SDR9C7 (3), SULT2B1 (3), ABCA12 (4), ALOX12B (4), ALOXE3 (4), PNPLA1 (2), NIPAL4 (3), CERS3 (2)	0.50000	0.75000	3.289e-27	9.513e-26	232
Lipodystrophy	Partial lipodystrophy	9	9	AKT2 (3), PPARG (4), CAV1 (6), LMNA (7), ADRA2A (4), LMNB2 (4), CIDEC (3), PLIN1 (3), LIPE (3)	0.45000	0.90000	3.632e-27	1.049e-25	79
Congenital muscular dystrophy	Limb girdle muscular dystrophy	12	11	GMPPB (4), CRPPA (4), LMNA (4), DYSF (6), LAMA2 (1), POMT1 (4), POMT2 (4), POMGNT1 (5), CAPN3 (7), FKRP (6), FKTN (5), POMK (4)	0.24490	0.54545	4.667e-27	1.346e-25	
Lung neoplasms	Obstructive airway disease	28	28	CHRNA7 (2), RTEL1 (2), TERT (2), TP53 (2), SERPINA1 (2), ACE (2), CYP1A2 (2), GSTP1 (2), GSTT1 (2), HMOX1 (2), IL1B (2), TLR4 (2)	0.08563	0.28000	4.754e-27	1.370e-25	
Anterior segment dysgenesis	Anterior segment mesenchymal dysgenesis	10	8	PITX3 (5), COL4A1 (1), FOXC1 (5), FOXD3 (1), PAX6 (3), PITX2 (4), FOXE3 (4), CYP1B1 (4), PXDN (5), CPAMD8 (6)	0.35714	0.71429	5.545e-27	1.595e-25	82
Arrhythmogenic right ventricular dysplasia	Left ventricular noncompaction cardiomyopathy	11	0	CTNNA3 (1), DSG2 (1), JUP (1), PKP2 (1), DSP (1), RYR2 (1), SCN5A (1), LDB3 (1), MYH7 (1), TMEM43 (1), TTN (1)	0.25581	0.73333	5.667e-27	1.626e-25	3
Congenital cartilage disorder	Connective tissue disease	16	0	HSPG2 (1), SLC26A2 (1), COL2A1 (1), COL11A1 (1), DYM (1), FLNB (1), TRPV4 (1), FLNA (1), COL11A2 (1), COMP (1), COL9A1 (1), COL9A2 (1)	0.12121	0.53333	5.667e-27	1.626e-25	44
Accessory skin tag	Rothmund-thomson syndrome	8	0	ALDH18A1 (1), ATP6V0A2 (1), ELN (1), EFEMP2 (1), FBLN5 (1), ATP6V1A (1), ATP6V1E1 (1), PYCR1 (1)	0.61538	1.00000	6.327e-27	1.813e-25	94
Keratinocyte carcinoma	Vitiligo	21	9	PIK3R1 (3), FOXP1 (3), HERC2 (1), HLA-DQA1 (2), HLA-DRB1 (2), SPMIP7 (1), RALY (1), PPARGC1B (1), IRF4 (1), CCR6 (3), BACH2 (3), CTLA4 (2)	0.11475	0.27273	7.125e-27	2.039e-25	
Non-small cell lung carcinoma	Skin cancer	21	0	TERT (1), BNC2 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), TRPS1 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), BACH2 (1)	0.11732	0.25000	7.135e-27	2.039e-25	16
Duodenal ulcer	Peptic ulcer disease	17	3	CCKBR (1), FUT2 (1), MECOM (1), PRKAA1 (1), TTC33 (1), ABO (3), JRK (1), PSCA (3), PLCL2 (1), MUC1 (1), GAST (3), SLC22A3 (1)	0.11972	0.45946	7.214e-27	2.059e-25	
Dementia	Major depressive disorder	171	33	HNF1B (1), DMRT1 (1), ZFPM2 (1), APP (2), PSEN1 (1), ACE (2), ADAMTS2 (1), ADCY8 (2), ADRA1A (2), ADRA1D (1), ANK3 (1), APOE (1)	0.07185	0.28983	8.268e-27	2.357e-25	2
Progressive myoclonic epilepsy	progressive myoclonus epilepsy	9	9	SCARB2 (5), PRICKLE1 (5), SEMA6B (2), GOSR2 (6), NUS1 (2), SERPINI1 (2), KCTD7 (6), KCNC1 (5), CERS1 (7)	0.36000	1.00000	9.773e-27	2.783e-25	339
Left ventricular disease	Wolff-parkinson-white syndrome	16	8	PRDM16 (6), ABCC9 (1), JUP (1), PRKAG2 (5), DSP (1), MYH6 (1), MYH11 (1), NDE1 (1), TBX20 (2), LMNA (2), RYR2 (1), MYBPC3 (6)	0.15686	0.31373	1.164e-26	3.310e-25	3
Irritable bowel syndrome	Neurotic disorder	37	0	RERE (1), CADM2 (1), CELF4 (1), CTSB (1), DCC (1), ERBB4 (1), FOXP2 (1), GLIS3 (1), RBMS3 (1), SORCS3 (1), TCF4 (1), TLR4 (1)	0.06942	0.27612	1.322e-26	3.755e-25	2
Atherosclerosis	Cerebrovascular disorder	21	16	APOA1 (2), AGT (2), APOE (3), HDAC9 (3), LDLR (3), SMARCA4 (1), ICAM1 (2), MTHFR (1), TNF (2), ATXN2 (1), IL6 (3), PLAT (2)	0.11475	0.25000	1.544e-26	4.379e-25	73
Erythrocytosis	Secondary polycythemia	8	8	HBA1 (6), HBA2 (6), EPO (6), HBB (6), EPAS1 (6), VHL (4), EGLN1 (7), BPGM (4)	0.57143	1.00000	1.645e-26	4.660e-25	24
Atrial fibrillation	Obstructive pulmonary disease	101	23	HMGA2 (1), CASZ1 (3), RREB1 (1), ZFPM2 (1), FGFR3 (1), ATP2A2 (1), AMPD3 (1), CACNA1D (1), AFF3 (1), AKAP6 (3), BCAS3 (1), BNC2 (1)	0.07640	0.18068	1.696e-26	4.799e-25	
Amyotrophic lateral sclerosis	Frontotemporal dementia	25	18	APOE (2), ERBB4 (7), GRN (3), MOB3B (1), MOBP (3), OPTN (7), SETX (6), TREM2 (2), UNC13A (4), ANG (8), C9orf72 (5), CCNF (3)	0.06793	0.41667	2.335e-26	6.597e-25	
Congenital deformity of clavicle	Congenital deformity of elbow	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of clavicle	Congenital deformity of forearm	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of clavicle	Congenital deformity of scapula	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of clavicle	Congenital deformity of wrist	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of clavicle	Congenital dislocation of elbow	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of elbow	Congenital deformity of forearm	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of elbow	Congenital deformity of scapula	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of elbow	Congenital deformity of wrist	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of elbow	Congenital dislocation of elbow	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of forearm	Congenital deformity of scapula	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of forearm	Congenital deformity of wrist	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of forearm	Congenital dislocation of elbow	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of scapula	Congenital deformity of wrist	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of scapula	Congenital dislocation of elbow	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of wrist	Congenital dislocation of elbow	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of clavicle	Congenital glenohumeral joint dislocation	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of elbow	Congenital glenohumeral joint dislocation	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of forearm	Congenital glenohumeral joint dislocation	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of scapula	Congenital glenohumeral joint dislocation	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Congenital deformity of wrist	Congenital glenohumeral joint dislocation	7	0	ADGRG6 (1), CNTNAP1 (1), GLDN (1), NEK9 (1), DNM2 (1), ZBTB42 (1), ADCY6 (1)	0.87500	1.00000	2.459e-26	6.774e-25	61
Leber hereditary optic neuropathy	Postaxial polydactyly	11	7	ND1 (2), ND2 (2), ATP6 (2), COX3 (2), ATP8 (1), COX1 (1), ND5 (2), COX2 (1), ND3 (1), ND4 (2), ND4L (2)	0.28205	0.52381	2.603e-26	7.163e-25	26
Global developmental delay	Intellectual disability	28	5	FOXG1 (1), AP4M1 (2), GRIN2B (1), HERC2 (1), KCNN2 (1), NRXN1 (1), SCN8A (1), TCF20 (1), TCF4 (1), FLNA (1), GRIA3 (1), CTNNB1 (3)	0.06683	0.36842	2.887e-26	7.933e-25	6
Anxiety disorder	Neurotic disorder	38	4	SOX5 (1), CYP17A1 (1), ARHGAP15 (1), CELF4 (1), DCC (1), EPHA4 (1), FARP1 (1), FOXP2 (1), GRM8 (3), MAD1L1 (1), MAPT (3), SDK1 (1)	0.06985	0.26027	2.924e-26	8.025e-25	2
Colonic neoplasms	Ovarian neoplasms	28	0	TP53 (1), EGFR (1), GRIK2 (1), MACIR (1), MECOM (1), PRKN (1), SOD2 (1), STAT3 (1), CTNNB1 (1), TRMT11 (1), KRAS (1), TYMS (1)	0.09121	0.21374	2.992e-26	8.202e-25	4
Gastroesophageal reflux disease	Obstructive pulmonary disease	56	0	DPYD (1), ATP2A2 (1), CACNA1D (1), AFF3 (1), AKAP6 (1), APOE (1), CABP1 (1), CAPZA3 (1), CCDC91 (1), CELF4 (1), CHRM3 (1), CSMD1 (1)	0.07152	0.20072	3.165e-26	8.665e-25	
Behcet disease	Sclerosing cholangitis	27	20	FUT2 (1), HLA-DRB1 (2), IL19 (1), KRTCAP2 (1), FAS (3), IL10 (4), IL2 (2), STAT3 (2), TLR4 (3), HLA-DQB1 (2), PARK7 (1), THADA (1)	0.08738	0.25714	3.414e-26	9.335e-25	
Partington syndrome	X-linked syndromic intellectual disability	8	8	CASK (2), ZC4H2 (2), RPL10 (2), BRWD3 (2), LAS1L (2), NONO (2), DDX3X (2), USP9X (2)	0.53333	1.00000	3.838e-26	1.047e-24	329
Perrault syndrome	Xx gonadal dysgenesis syndrome	8	8	LARS2 (6), PRORP (2), TWNK (5), HSD17B4 (6), RMND1 (2), ERAL1 (5), HARS2 (6), GGPS1 (2)	0.53333	1.00000	3.838e-26	1.047e-24	353
Urinary bladder cancer	Urinary system neoplasms	11	0	TERT (1), PSCA (1), LSP1 (1), C19orf12 (1), LY6K (1), CCNE1 (1), GSTM2 (1), ACTRT3 (1), SLBP (1), FAM53A (1), BRK1 (1)	0.16176	0.91667	4.461e-26	1.215e-24	
Myasthenic syndrome	Presynaptic congenital myasthenic syndrome	10	10	AGRN (5), CHAT (4), MYO9A (6), SNAP25 (4), VAMP1 (6), SYT2 (6), SLC5A7 (5), COL13A1 (5), SLC25A1 (5), SLC18A3 (4)	0.23810	0.90909	4.521e-26	1.230e-24	5
Lung neoplasms	Ovarian neoplasms	30	0	PTEN (1), TERT (1), TP53 (1), TP63 (1), EGFR (1), PRKN (1), STAT3 (1), TLR4 (1), IL6 (1), AKT1 (1), CAV1 (1), MAPK1 (1)	0.08427	0.22901	4.617e-26	1.255e-24	4
Autoimmune hepatitis	Graves disease	16	13	HLA-DQA1 (2), HLA-DRB1 (2), ICOS (1), IL10 (2), IL2 (2), IL4 (2), IL6 (2), HLA-DQB1 (2), VDR (1), TGFB1 (2), IFNG (2), CTLA4 (3)	0.13115	0.42105	4.746e-26	1.288e-24	
Mitochondrial disease	Mitochondrial dna depletion syndrome	18	16	RRM2B (6), MGME1 (6), POLG (5), OPA1 (5), TWNK (5), POLGARF (1), SLC25A4 (6), SCO2 (2), TK2 (8), SLC25A10 (6), TYMP (5), FANCI (1)	0.07087	0.62069	5.368e-26	1.455e-24	
Benign pemphigus	Rothmund-thomson syndrome	8	0	ALDH18A1 (1), ATP6V0A2 (1), ELN (1), EFEMP2 (1), FBLN5 (1), ATP6V1A (1), ATP6V1E1 (1), PYCR1 (1)	0.57143	0.88889	5.693e-26	1.536e-24	94
Bilirubin metabolism disease	Crigler-najjar syndrome	8	8	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A6 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.57143	0.88889	5.693e-26	1.536e-24	256
Bilirubin metabolism disease	Lucey-driscoll syndrome	8	8	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A6 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.57143	0.88889	5.693e-26	1.536e-24	256
Darier disease	Rothmund-thomson syndrome	8	0	ALDH18A1 (1), ATP6V0A2 (1), ELN (1), EFEMP2 (1), FBLN5 (1), ATP6V1A (1), ATP6V1E1 (1), PYCR1 (1)	0.57143	0.88889	5.693e-26	1.536e-24	94
Intellectual developmental disorder, x-linked	Partington syndrome	12	12	CASK (2), ARX (6), AP1S2 (2), RPL10 (4), BRWD3 (5), LAS1L (2), KDM5C (3), NONO (3), DDX3X (5), PAK3 (4), USP9X (5), STEEP1 (5)	0.13043	0.85714	5.795e-26	1.561e-24	
Lewy body disease	Parkinson disease	34	21	KANSL1 (1), INS (2), MCCC1 (1), GFAP (2), APOE (1), ELOVL7 (1), IGF2 (2), KRTCAP2 (1), NTRK2 (3), PTPRD (1), IGF1R (2), IGF2R (2)	0.05753	0.35789	5.808e-26	1.563e-24	
Congenital ichthyosis	Ichthyosis	9	9	TGM1 (3), KRT1 (2), ABCA12 (4), ALOX12B (3), ALOXE3 (3), CYP4F22 (3), PNPLA1 (3), ST14 (3), CERS3 (3)	0.42857	0.69231	6.104e-26	1.639e-24	232
Maturity-onset diabetes of the young (mody)	monogenic diabetes	9	9	INS (6), RFX6 (2), ABCC8 (4), HNF4A (6), KCNJ11 (7), GCK (7), HNF1A (6), PDX1 (7), NEUROD1 (6)	0.36000	0.90000	6.103e-26	1.639e-24	35
Melas syndrome	Postaxial polydactyly	10	5	ND1 (2), ND2 (1), ATP6 (1), COX3 (2), ATP8 (1), COX1 (2), ND5 (2), COX2 (2), ND3 (1), ND4 (1)	0.33333	0.55556	7.458e-26	1.999e-24	26
Atrophic macular degeneration	Macular degeneration	16	10	CFI (3), APOE (3), C2 (3), C3 (3), RAD51B (1), CFB (3), CETP (1), CFH (3), HERPUD1 (1), RDH5 (1), ARMS2 (3), C9 (3)	0.14815	0.28571	8.720e-26	2.335e-24	238
Lung disease	Pulmonary fibrosis	21	16	CAT (2), SERPINA1 (3), ACE (2), SERPINE1 (1), IL1A (1), IL1B (2), NFE2L2 (2), TNF (2), PTGS2 (2), PDGFA (2), TGFB1 (2), CSF3 (2)	0.11170	0.20792	9.964e-26	2.665e-24	133
Connective tissue disease	Marfan syndrome	17	14	COL2A1 (1), FBN1 (7), NOTCH1 (3), COL5A1 (2), FBN2 (2), PRKG1 (2), FLNA (1), SMAD3 (2), ACTA2 (3), COL1A1 (2), COL3A1 (2), MYH11 (2)	0.11806	0.39535	1.001e-25	2.675e-24	
Colorectal neoplasms	Urinary bladder neoplasms	32	0	FGFR3 (1), TP53 (1), ARID1A (1), EGFR (1), ERCC2 (1), ESR2 (1), SRC (1), ACHE (1), BCL2 (1), IGFBP3 (1), MTHFR (1), PON1 (1)	0.07960	0.22535	1.292e-25	3.448e-24	4
Color vision deficiency	Schizophrenia	285	115	SOX5 (2), HMGA2 (1), TBX1 (2), CUL9 (1), WWOX (2), LMBR1 (1), PDE4D (2), ZSWIM6 (1), PIK3R1 (1), DOCK6 (1), RBPJ (1), CACNA1D (1)	0.08843	0.29503	1.320e-25	3.518e-24	2
Retinitis pigmentosa-deafness syndrome	Usher syndrome	10	8	PCDH15 (7), USH2A (7), HARS1 (7), PSAP (1), CDH23 (8), MYO7A (7), WHRN (6), CLRN1 (7), USH1G (7), C10orf105 (1)	0.21739	0.90909	1.323e-25	3.521e-24	31
Mood disorder	Post-traumatic stress disorder	37	8	KANSL1 (1), BLTP1 (1), ADCY8 (3), ANK3 (1), ARHGAP15 (1), CACNA1E (1), CSE1L (1), DCC (1), FOXP2 (1), GABBR1 (1), GRM8 (1), KAZN (1)	0.07957	0.18227	1.342e-25	3.567e-24	2
Diabetic retinopathy	Ischemic heart disease	28	7	ACE (1), APOB (1), APOE (2), SERPINE1 (1), VEGFA (2), NOS3 (1), ADRB3 (1), AGER (1), AGTR1 (2), EPO (1), GSTT1 (1), IL10 (1)	0.09121	0.17073	1.349e-25	3.582e-24	
Congenital ichthyosiform erythroderma	Congenital ichthyosis	8	8	TGM1 (3), SDR9C7 (3), ABCA12 (5), ALOX12B (3), ALOXE3 (3), PNPLA1 (3), NIPAL4 (3), CERS3 (3)	0.53333	0.88889	1.480e-25	3.925e-24	232
Colorectal neoplasms	Ovarian neoplasms	31	0	TP53 (1), TP63 (1), ATP7B (1), EGFR (1), EPCAM (1), MSH2 (1), YAP1 (1), SOD2 (1), TLR4 (1), AKT1 (1), CTNNB1 (1), DLC1 (1)	0.07908	0.23664	1.536e-25	4.068e-24	4
Pelvic organ prolapse	Uterine prolapse	13	0	WT1 (1), FBN2 (1), SORBS2 (1), EFEMP1 (1), PNPT1 (1), GDF7 (1), MAFF (1), PLA2G6 (1), POLD3 (1), HNRNPA1L3 (1), WNT4 (1), SLC12A2 (1)	0.09155	0.86667	1.540e-25	4.075e-24	152
Kidney disease	Nephrotic syndrome	39	22	WT1 (4), COL4A5 (1), ATIC (1), COL4A3 (1), COL4A4 (1), ALMS1 (1), ACTN4 (1), AGT (2), LAMB2 (3), REN (2), TRPC6 (1), EPO (2)	0.07052	0.23494	1.695e-25	4.480e-24	
Colorectal adenoma	Neoplasms	18	0	TERT (1), NXN (1), RHPN2 (1), COL4A2 (1), MYRF (1), TMEM258 (1), LAMC1 (1), SMAD6 (1), SMAD7 (1), CCND2 (1), HHIP (1), EIF3H (1)	0.10651	0.38298	1.863e-25	4.918e-24	21
Cerebellar ataxia	Neuropathy, ataxia, and retinitis pigmentosa	12	1	ND1 (1), ND2 (1), ATP6 (2), COX3 (1), TDP1 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.10345	0.92308	1.932e-25	5.094e-24	
Bonnevie-ullrich syndrome	Turner syndrome	7	5	CAT (2), IGFBP3 (1), SOD2 (2), SOD1 (2), VDR (1), GH1 (2), NOS2 (2)	0.77778	1.00000	1.967e-25	5.174e-24	294
Fahr's disease	Primary familial brain calcification	7	7	PDGFRB (4), XPR1 (4), PDGFB (4), JAM2 (4), SLC20A2 (3), MYORG (4), NAA60 (2)	0.77778	1.00000	1.967e-25	5.174e-24	411
Cholecystitis	Cholecystolithiasis	12	1	ABCG8 (2), CRBN (1), SUMF1 (1), TMEM132C (1), GPC1 (1), KCNJ6 (1), ADAM19 (1), KDM4C (1), DYRK1A (1), EHF (1), FHIP2B (1), LARP1 (1)	0.08392	1.00000	2.356e-25	6.189e-24	239
Bilirubin metabolism disease	Perinatal disease	8	0	UGT1A10 (1), UGT1A8 (1), UGT1A9 (1), UGT1A6 (1), UGT1A3 (1), UGT1A4 (1), UGT1A5 (1), UGT1A7 (1)	0.53333	0.80000	2.846e-25	7.466e-24	256
Liver neoplasms	Lung neoplasms	31	0	TERT (1), TP53 (1), BRAF (1), ESR1 (1), HMOX1 (1), IL2 (1), NFE2L2 (1), STAT3 (1), TNF (1), XPC (1), FHIT (1), GSTM1 (1)	0.08245	0.20395	2.958e-25	7.751e-24	4
Bipolar depression	Depression	28	0	COMT (1), INS (1), DISC1 (1), HTR1A (1), NTRK2 (1), RELN (1), BDNF (1), MAOA (1), MTHFR (1), S100B (1), DRD1 (1), GAD1 (1)	0.07843	0.26667	3.058e-25	8.003e-24	2
Complex cortical dysplasia with other brain malformations	Cortical dysplasia with other brain malformations	8	8	TUBG1 (4), KIF26A (5), TUBB2A (5), KIF5C (5), TUBB (4), TUBB3 (4), TUBB2B (6), KIF2A (5)	0.44444	1.00000	3.107e-25	8.123e-24	144
Cerebellar ataxia	Spastic ataxia	19	4	CACNA1A (1), CACNA1G (1), SCN8A (2), SETX (1), PNPLA6 (1), ITPR1 (1), HARS1 (1), ERCC4 (1), DNMT1 (1), FLNC (1), SEPSECS (1), SYNE1 (1)	0.11446	0.27143	3.210e-25	8.382e-24	92
Metabolic syndrome	Willis-ekbom disease	67	2	ADGRB3 (1), ALCAM (1), ASB3 (1), BTBD9 (3), CAMTA1 (1), CNTNAP2 (1), DAB1 (1), GRIA1 (1), HLA-DRB1 (1), IGSF11 (1), LINGO2 (1), LSAMP (1)	0.04692	0.35079	3.245e-25	8.464e-24	2
Graves disease	Hyperthyroidism	17	10	HLA-DQA1 (2), HLA-DRB1 (2), ICOS (1), VEGFA (2), TNF (2), HLA-DQB1 (2), BACH2 (1), CTLA4 (3), IL2RA (1), MUC22 (1), PTPN22 (3), TG (3)	0.12500	0.32075	3.469e-25	9.038e-24	309
Congenital aneurysm of ascending aorta	Thoracic aortic aneurysm and aortic dissection	10	7	FBN1 (5), SMAD3 (5), FOXE3 (5), COL3A1 (1), MYH11 (5), NDE1 (1), TGFBR2 (5), LOX (5), SRFBP1 (1), MYLK (5)	0.22727	0.83333	3.581e-25	9.317e-24	50
Congenital microcephaly	Microcephaly	15	14	FOXG1 (2), CASK (2), ASPM (5), CDK5RAP2 (4), PNKP (6), MCPH1 (6), CIT (5), WDR62 (6), CEP152 (5), CPAP (6), KNL1 (5), PHC1 (5)	0.12195	0.48387	3.619e-25	9.404e-24	137
Neonatal diabetes mellitus	Permanent neonatal diabetes mellitus	9	8	INS (5), GATA4 (2), INS-IGF2 (1), ABCC8 (5), KCNJ11 (5), GCK (6), SLC2A2 (2), PDX1 (4), MNX1 (2)	0.39130	0.64286	3.629e-25	9.421e-24	35
Obstructive pulmonary disease	Respiratory system disease	51	0	RERE (1), RREB1 (1), EMSY (1), FADS1 (1), FADS2 (1), GABBR1 (1), HLA-DQA1 (1), ITGB8 (1), RIN3 (1), TBL1XR1 (1), TET2 (1), TSPAN14 (1)	0.06800	0.21162	4.465e-25	1.158e-23	14
Developmental and epileptic encephalopathy	Non-specific syndromic intellectual disability	41	29	GABRD (1), HNRNPU (4), ATP1A3 (5), ACTL6B (5), ANO4 (1), CELF2 (5), CHD2 (4), CNTNAP2 (2), EPHA4 (1), GRIN2B (4), KCNQ2 (7), MEF2C (1)	0.07482	0.18636	4.761e-25	1.233e-23	6
Fatty liver, alcoholic	Nonalcoholic fatty liver disease	27	24	INS (2), MTTP (3), CAT (2), PTEN (2), APOE (2), FGF21 (2), LDLR (2), SREBF1 (2), F2 (2), LEP (2), MTHFR (1), NFE2L2 (2)	0.07181	0.31395	4.780e-25	1.236e-23	
Erythrocytosis	Polycythemia	9	8	HBA1 (6), EPO (5), EPOR (3), HBB (5), JAK2 (4), EPAS1 (5), VHL (3), EGLN1 (5), INSL6 (1)	0.37500	0.69231	4.926e-25	1.273e-23	24
Heterotaxy syndrome	Situs inversus	10	9	PKD1L1 (4), ZIC3 (5), CIROP (3), MNS1 (3), TEX9 (1), MMP21 (5), CFAP53 (4), ACVR2B (5), CFAP52 (4), NODAL (6)	0.30303	0.50000	5.762e-25	1.487e-23	54
Congestive heart failure	Hypotension	21	21	INS (2), CAT (2), ACE (2), AGT (2), REN (2), GCG (2), IL1B (2), TNF (2), PRL (2), AVP (2), IL6 (2), POMC (2)	0.09292	0.31343	5.819e-25	1.500e-23	
Bardet-biedl syndrome	Nephronophthisis	14	13	MKKS (7), NPHP4 (7), RPGRIP1L (2), NPHP3 (6), TMEM67 (4), NPHP1 (7), CEP290 (5), IFT172 (5), TTC21B (5), WDR19 (5), SDCCAG8 (7), BBS9 (5)	0.16279	0.35000	5.984e-25	1.541e-23	8
Diabetic neuropathy	Kidney failure	36	28	INS (2), CAT (2), NOTCH2 (2), COL4A3 (2), ACE (2), AGT (2), MME (2), SERPINE1 (2), TCF7L2 (1), VEGFA (2), NOS3 (2), EPO (2)	0.08000	0.15385	6.525e-25	1.678e-23	
Arrhythmogenic right ventricular cardiomyopathy	Restrictive cardiomyopathy	12	8	DMD (1), DSP (4), MYH6 (1), FLNC (3), DES (4), MYH7 (3), MYL3 (3), TTN (2), ACTC1 (1), MYL2 (1), TNNI3 (3), TNNT2 (3)	0.18750	0.52174	7.359e-25	1.890e-23	3
Maturity-onset diabetes of the young	monogenic diabetes	8	8	INS (2), ABCC8 (2), HNF4A (2), KCNJ11 (2), GCK (2), HNF1A (2), PDX1 (2), NEUROD1 (3)	0.50000	0.80000	7.398e-25	1.898e-23	35
Congenital contractural arachnodactyly	Loeys-dietz syndrome	10	10	FBN1 (2), FBN2 (7), TGFB2 (6), SMAD3 (4), COL3A1 (2), TGFBR1 (6), TGFBR2 (7), TGFB3 (5), SMAD2 (8), IPO8 (3)	0.27778	0.62500	7.739e-25	1.983e-23	50
Chiari-frommel syndrome	Hyperproinsulinemia	7	6	PRL (2), DRD2 (2), GAD1 (2), PRLR (3), GNRH1 (2), LHB (2), PGR (1)	0.70000	1.00000	8.853e-25	2.266e-23	118
Coronary artery disease	Migraine	95	28	CASZ1 (1), PRDM16 (3), SKI (1), JMJD1C (1), SERPINA1 (1), ADARB2 (1), BAZ1B (1), C1GALT1 (1), CDH13 (1), CPS1 (1), ERBB4 (1), ETV1 (1)	0.06538	0.23515	8.954e-25	2.289e-23	34
Diffuse gastric adenocarcinoma	Gastric cancer	14	0	CDH13 (1), CHLSN (1), LAT (1), ABO (1), PSCA (1), HTT (1), TJP3 (1), LY6K (1), MTX1 (1), GPR78 (1), THBS3 (1), HMX1 (1)	0.06335	0.87500	9.992e-25	2.552e-23	
Dejerine-sottas disease	Distal spinal muscular atrophy	12	2	AARS1 (1), TRPV4 (1), DYNC1H1 (1), NEFL (1), SH3TC2 (1), HSPB1 (1), PLEKHG5 (1), GARS1 (1), HSPB8 (1), MARS1 (1), PMP22 (3), PRX (3)	0.20690	0.38710	1.004e-24	2.556e-23	13
Distal spinal muscular atrophy	Hypertrophic neuropathy	12	2	AARS1 (1), TRPV4 (1), DYNC1H1 (1), NEFL (1), SH3TC2 (1), HSPB1 (1), PLEKHG5 (1), GARS1 (1), HSPB8 (1), MARS1 (1), PMP22 (2), PRX (2)	0.20690	0.38710	1.004e-24	2.556e-23	13
Distal spinal muscular atrophy	Roussy-levy syndrome	12	1	AARS1 (1), TRPV4 (1), DYNC1H1 (1), NEFL (1), SH3TC2 (1), HSPB1 (1), PLEKHG5 (1), GARS1 (1), HSPB8 (1), MARS1 (1), PMP22 (4), PRX (1)	0.20690	0.38710	1.004e-24	2.556e-23	13
Hyperlipidemia	Ischemic heart disease	26	23	ABCA1 (2), ABCG8 (2), APOB (3), APOE (3), LDLR (3), LIPC (6), MLXIPL (2), TRIB1 (2), VEGFA (2), NOS3 (2), ADRB3 (2), HMGCR (2)	0.09091	0.18440	1.010e-24	2.567e-23	
Schizophrenia	Scoliosis	297	118	COMT (3), TBX1 (2), WWOX (2), COL2A1 (2), PDE4D (2), PRKG2 (1), SH2B3 (2), ETV6 (1), ADK (2), JAG1 (1), GFAP (1), ADGRB3 (1)	0.09060	0.28751	1.101e-24	2.795e-23	2
Attention deficit hyperactivity disorder	Color vision deficiency	160	10	SOX5 (1), HMGA2 (1), CDH2 (4), CACNA1D (1), ADGRL2 (1), ARID1B (1), AUTS2 (1), C6orf118 (1), CACNA2D3 (1), CACNB2 (1), CAMK1D (1), CCDC171 (1)	0.08368	0.16563	1.114e-24	2.825e-23	2
Atopic dermatitis	Behcet disease	18	9	IL10 (4), IL1B (3), IL2 (1), IL4 (2), MBL2 (1), TLR4 (2), TNF (1), VDR (1), TGFB1 (1), AHR (2), CTLA4 (1), CYP1A1 (2)	0.11688	0.27273	1.158e-24	2.933e-23	46
Nephronophthisis	Senior-loken syndrome	10	9	NPHP4 (7), NPHP3 (7), NPHP1 (6), CEP290 (6), WDR19 (5), SDCCAG8 (5), IQCB1 (6), RLIG1 (1), CEP164 (5), INVS (8)	0.22727	0.76923	1.171e-24	2.964e-23	8
Metabolic syndrome	Osteoarthritis	148	11	SOX5 (1), ADK (1), BRWD1 (1), ADARB1 (1), AGAP1 (1), ALDH1A2 (2), APOC1 (1), APOE (1), ARHGAP15 (1), ASB3 (1), BANK1 (1), BNC2 (1)	0.07847	0.20274	1.184e-24	2.993e-23	2
Graves disease	Hypersensitivity	18	18	HLA-DQA1 (3), HLA-DRB1 (3), IL10 (2), IL1B (2), IL4 (2), MTHFR (2), TNF (2), IL6 (2), CD40LG (2), HLA-DQB1 (3), TGFB1 (2), IFNG (2)	0.11842	0.25714	1.228e-24	3.099e-23	
Multinodular goiter	Toxic nodular goiter	10	0	NFIA (1), BCAS3 (1), INSR (1), TG (1), FAM227B (1), ITPK1 (1), PRDM11 (1), MBIP (1), FGF7 (1), MICOS10 (1)	0.27778	0.58824	1.230e-24	3.099e-23	
Aortic aneurysm	Congenital contractural arachnodactyly	13	13	SKI (2), FBN1 (3), FBN2 (7), SLC2A10 (2), TGFB2 (3), THSD4 (4), SMAD3 (2), COL3A1 (2), EFEMP2 (2), TGFBR1 (2), TGFBR2 (2), LOX (5)	0.16456	0.44828	1.230e-24	3.099e-23	50
Biliary cholangitis	Systemic sclerosis	24	10	ARHGAP31 (1), DDX6 (1), DGKQ (1), ELMO1 (1), HLA-DQA1 (2), HLA-DRA (1), HLA-DQB1 (2), ATG5 (1), HLA-DPB1 (1), CCR6 (2), GSDMB (1), IL12RB2 (1)	0.09524	0.18750	1.239e-24	3.117e-23	
Parkinson disease	Schizophrenia	182	98	KANSL1 (1), RERE (1), WWOX (2), CP (2), PDGFRB (1), GFAP (2), AGAP1 (1), ALCAM (1), ALDH1A2 (3), APOE (3), CACNA2D3 (1), CAMK1D (1)	0.06300	0.34405	1.263e-24	3.174e-23	2
Melanoma	Neuroblastoma	37	6	TERT (5), TP53 (2), ARHGAP24 (1), HLA-DQA1 (1), HLA-DRB1 (1), SNX29 (1), SPIRE2 (1), TNF (1), DOCK8 (2), KRT5 (1), PTPN14 (2), NRAS (1)	0.06727	0.24503	1.399e-24	3.511e-23	
Jarcho-levin syndrome	Spondylocostal dysostosis	7	7	TBX6 (5), DLL3 (5), HES7 (6), LFNG (6), MESP2 (5), RIPPLY2 (7), DMRT2 (2)	0.70000	0.87500	1.574e-24	3.941e-23	
Adult myoclonic epilepsy	Familial adult myoclonic epilepsy	7	7	RAPGEF2 (5), TNRC6A (5), ADRA2B (2), CNTN2 (3), MARCHF6 (5), SAMD12 (5), YEATS2 (4)	0.70000	0.87500	1.574e-24	3.941e-23	284
Accessory skin tag	Cutis laxa	8	8	ALDH18A1 (6), ATP6V0A2 (8), ELN (7), EFEMP2 (7), FBLN5 (6), ATP6V1A (8), ATP6V1E1 (7), PYCR1 (7)	0.38095	1.00000	1.610e-24	4.028e-23	94
Ureterolithiasis	Urolithiasis	10	0	ALPL (1), BCAS3 (1), PDILT (1), ABCG2 (1), RGS14 (1), BCAS1 (1), CYP24A1 (1), KLK15 (1), RSPH14 (1), PKN1 (1)	0.14286	1.00000	1.652e-24	4.127e-23	180
Macular dystrophy	Stargardt disease	12	6	ABCA4 (4), CNGB3 (2), BEST1 (2), PRPH2 (3), CRB1 (1), CRX (1), PROM1 (5), GPHN (1), EYS (1), CERKL (1), MFSD8 (4), RDH12 (1)	0.19672	0.42857	1.685e-24	4.205e-23	7
Non-small cell lung carcinoma	Skin neoplasms	23	3	TERT (1), BNC2 (1), FOXP1 (1), HERC2 (1), HLA-DQA1 (1), HLA-DRB1 (1), TRPS1 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), BACH2 (1)	0.09664	0.20000	1.819e-24	4.535e-23	16
B-cell acute lymphoblastic leukemia	Biliary cholangitis	19	2	ARHGAP31 (1), IKZF1 (1), RIN3 (1), CCR6 (1), CAPSL (1), CEP43 (1), GSDMB (1), NFKB1 (2), ZPBP2 (1), STAT4 (2), IKZF3 (1), TCAP (1)	0.10053	0.31667	1.834e-24	4.567e-23	
Behcet disease	Graves disease	20	14	HLA-DRB1 (2), SERPINE1 (2), ICAM1 (2), IL10 (4), IL1B (2), IL2 (1), IL4 (2), TNF (1), HLA-DQB1 (2), VDR (1), TGFB1 (2), CTLA4 (3)	0.10811	0.20202	1.955e-24	4.862e-23	
Deficiency anemia	Vitamin b deficiency	9	1	FUT2 (2), TCN2 (1), CUBN (1), TCN1 (1), CD320 (1), FUT6 (1), MMAA (1), MMUT (1), OOSP3 (1)	0.32143	0.75000	2.144e-24	5.322e-23	100
Majewski syndrome	Short rib dysplasia-polydactyly syndrome	9	8	EVC2 (1), NEK1 (3), IFT80 (2), DYNC2H1 (4), DYNC2LI1 (2), IFT172 (2), TTC21B (2), WDR35 (3), TRAF3IP1 (2)	0.32143	0.75000	2.144e-24	5.322e-23	19
Cholelithiasis	Progressive intrahepatic cholestasis	12	12	MYO5B (5), VPS33B (3), NR1H4 (5), ATP8B1 (6), TJP2 (6), ABCB11 (5), ABCB4 (6), SLC51A (4), KIF12 (4), USP53 (5), SEMA7A (4), ZFYVE19 (3)	0.08511	0.92308	2.328e-24	5.771e-23	135
Multiple myeloma	Non-hodgkins lymphoma	24	4	ANKRD11 (1), GRAMD1B (1), HLA-DQA1 (1), HLA-DRB1 (1), MECOM (1), BCL2 (2), CCHCR1 (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (2), EOMES (1), SP140 (1)	0.09412	0.17778	2.392e-24	5.922e-23	
Congenital contractural arachnodactyly	Ehlers-danlos syndrome	12	12	FBN1 (2), FBN2 (7), PLOD1 (5), SLC2A10 (2), TGFB2 (2), SMAD3 (2), COL3A1 (7), TGFBR1 (2), TGFBR2 (2), LOX (2), AEBP1 (6), FKBP14 (5)	0.19355	0.41379	2.869e-24	7.095e-23	50
Charcot-marie-tooth disease	Spinal muscular atrophy	16	15	KIF1B (6), TRPV4 (5), SIGMAR1 (3), BICD2 (4), DYNC1H1 (5), ATP7A (3), HSPB1 (6), REEP1 (3), PLEKHG5 (5), GARS1 (7), HSPB8 (5), IGHMBP2 (6)	0.10390	0.43243	3.687e-24	9.109e-23	13
Congenital heart defects	Craniofacial abnormalities	20	20	GP1BB (2), TBX1 (2), UFD1 (2), COL2A1 (2), TGFB2 (2), ECE1 (2), RCAN1 (2), GNAQ (2), IRX5 (2), EYA1 (2), PITX2 (2), AHR (2)	0.09662	0.28571	3.903e-24	9.633e-23	41
Congenital cataract	Posterior subcapsular cataract	10	8	CRYBB2 (3), PITX3 (2), EPHA2 (3), CHMP4B (4), CRYAB (1), UNC45B (2), MIP (1), CRYBA1 (2), GJA3 (2), LEMD2 (3)	0.16129	0.90909	4.016e-24	9.901e-23	51
Aplasia of the vermis	Congenital brain malformation	11	0	ARL3 (1), TMEM216 (1), TMEM237 (1), KIAA0586 (1), KIAA0753 (1), IFT74 (1), INPP5E (1), TOGARAM1 (1), B9D2 (1), TMEM218 (1), FAM149B1 (1)	0.18033	0.64706	4.051e-24	9.963e-23	
Aplasia of the vermis	Congenital hypoplasia of part of brain	11	0	ARL3 (1), TMEM216 (1), TMEM237 (1), KIAA0586 (1), KIAA0753 (1), IFT74 (1), INPP5E (1), TOGARAM1 (1), B9D2 (1), TMEM218 (1), FAM149B1 (1)	0.18033	0.64706	4.051e-24	9.963e-23	
Congenital myasthenic syndrome	Presynaptic congenital myasthenic syndrome	9	9	AGRN (5), CHAT (6), MYO9A (4), SNAP25 (4), SYT2 (6), SLC5A7 (5), COL13A1 (5), SLC25A1 (4), SLC18A3 (4)	0.28125	0.81818	4.108e-24	1.009e-22	5
Color vision deficiency	Obesity	167	24	SOX5 (1), PRDM16 (1), CUL9 (1), DMRT1 (1), WWOX (1), ACAN (1), GNAT2 (3), KIF7 (1), PDE4D (1), RBPJ (1), CDH2 (1), ADGRL2 (1)	0.08375	0.17288	4.278e-24	1.050e-22	2
Diabetic nephropathy type 2	Diabetic polyneuropathy	8	0	CDKAL1 (1), JAZF1 (1), NYAP2 (1), TCF7L2 (1), FTO (1), KCNQ1 (1), IGF2BP2 (1), WFS1 (1)	0.40000	0.88889	5.031e-24	1.233e-22	
Fetal akinesia deformation sequence	Pena-shokeir syndrome 	10	10	RAPSN (5), MAGEL2 (2), GLDN (2), KIF21A (2), MYOD1 (3), MUSK (6), TUBA1A (2), SLC18A3 (3), DOK7 (5), NUP88 (5)	0.18182	0.83333	5.046e-24	1.236e-22	
Arrhythmogenic right ventricular cardiomyopathy	Cardiac arrest	12	5	CACNB2 (1), DSG2 (6), TRPM4 (1), DSP (4), MYH6 (1), CEP85L (1), PLN (3), RYR2 (3), SCN5A (3), ANK2 (1), HCN4 (1), MYOM1 (1)	0.17910	0.46154	5.219e-24	1.276e-22	3
Dystonia	Dystonia musculorum deformans	9	9	COL6A3 (7), GCH1 (4), THAP1 (4), TOR1A (3), TUBB4A (3), TAF1 (3), GNAL (5), HPCA (4), SGCE (2)	0.20000	1.00000	5.299e-24	1.293e-22	172
Dystonia	Genetic torsion dystonia	9	9	COL6A3 (7), GCH1 (4), THAP1 (4), TOR1A (3), TUBB4A (3), TAF1 (3), GNAL (5), HPCA (3), SGCE (2)	0.20000	1.00000	5.299e-24	1.293e-22	172
Lymphatic metastasis	Ovarian neoplasms	15	0	GRIK2 (1), MACIR (1), SOD2 (1), STAT3 (1), TRMT11 (1), MET (1), ERBB2 (1), AQP3 (1), CD274 (1), CCNH (1), MTOR (1), TP53BP1 (1)	0.10204	0.50000	5.405e-24	1.318e-22	4
Cone dystrophy	Leber congenital amaurosis	14	6	ABCA4 (1), CNGB3 (3), PRPH2 (2), PDE6B (1), USH2A (1), CRB1 (6), GUCY2D (6), RPGRIP1 (6), NMNAT1 (6), CFAP410 (1), WDR19 (1), RPGR (1)	0.14433	0.36842	5.528e-24	1.346e-22	7
Digestive system disease	Diverticular disease	25	5	NF1 (1), ANO1 (1), ARHGAP15 (2), CACNB2 (1), COLQ (2), MED12L (1), MMS22L (1), SLC35F3 (2), TRPS1 (1), WDR70 (1), BDNF (1), EFEMP1 (1)	0.07862	0.26882	5.577e-24	1.357e-22	
Leber congenital amaurosis	Stargardt disease	13	12	ABCA4 (4), CNGB3 (2), PRPH2 (3), LRAT (6), CRB1 (6), CRX (6), LCA5 (7), PROM1 (5), TULP1 (5), RPE65 (6), GPHN (1), SPATA7 (7)	0.14773	0.46429	5.758e-24	1.399e-22	7
Cleft palate	Craniofacial abnormalities	19	19	FGF8 (2), COL2A1 (2), TP63 (2), BNC2 (2), IRF6 (2), SPRY2 (2), TGFB2 (2), FGFR2 (2), MSX1 (2), PTCH1 (2), FGFR1 (2), PDGFRA (2)	0.09596	0.31667	5.963e-24	1.447e-22	
Thrombophilia	Venous thromboembolism	19	11	WWOX (1), FGA (4), LRAT (1), F2 (6), PLAT (4), ABO (1), SLC19A2 (1), F5 (6), F8 (5), PROC (6), PROS1 (6), F9 (6)	0.05337	0.59375	6.242e-24	1.513e-22	
Dementia	Obesity	121	11	DMRT1 (1), RUNX1 (1), ABCA1 (2), AGAP1 (1), ANO3 (1), APOE (3), ARHGAP24 (1), ARHGEF28 (1), ASAP1 (1), ASB3 (1), AUTS2 (1), CADM2 (2)	0.07272	0.20508	6.311e-24	1.528e-22	2
Limb girdle muscular dystrophy	Muscle eye brain disease	10	9	DAG1 (3), GMPPB (4), CRPPA (4), POMT1 (4), POMT2 (4), POMGNT1 (5), TSPAN1 (1), FKRP (5), FKTN (5), POMK (4)	0.22727	0.66667	6.839e-24	1.654e-22	
Breast neoplasms	Liver neoplasms	39	1	TERT (1), TP53 (1), ATP7B (1), FST (1), GRIK2 (1), MACIR (1), ESR1 (2), HMOX1 (1), NFE2L2 (1), STAT3 (1), TNF (1), PHGDH (1)	0.06181	0.25658	6.937e-24	1.676e-22	4
Fahr's disease	Idiopathic basal ganglia calcification	7	7	PDGFRB (5), XPR1 (5), PDGFB (5), JAM2 (5), SLC20A2 (5), MYORG (5), NAA60 (5)	0.58333	1.00000	8.115e-24	1.959e-22	411
Cystic fibrosis	Obstructive airway disease	17	5	SERPINA1 (3), NOS3 (1), GSTT1 (1), HMOX1 (3), HSPA1A (1), IL1B (1), MBL2 (1), TNF (1), EPHX1 (1), GSTM1 (1), PTGS2 (1), SERPINA3 (1)	0.11644	0.27419	9.118e-24	2.199e-22	133
Congenital brain malformation	Joubert syndrome	11	11	ARL3 (5), TMEM216 (6), TMEM237 (6), KIAA0586 (5), KIAA0753 (4), IFT74 (4), INPP5E (6), TOGARAM1 (5), B9D2 (2), TMEM218 (5), FAM149B1 (3)	0.16923	0.64706	9.621e-24	2.315e-22	
Congenital hypoplasia of part of brain	Joubert syndrome	11	11	ARL3 (5), TMEM216 (6), TMEM237 (6), KIAA0586 (5), KIAA0753 (4), IFT74 (4), INPP5E (6), TOGARAM1 (5), B9D2 (2), TMEM218 (5), FAM149B1 (3)	0.16923	0.64706	9.621e-24	2.315e-22	
Conduction disorder of the heart	Left ventricular noncompaction cardiomyopathy	11	0	DMD (1), DSG2 (1), JUP (1), PKP2 (1), RBM20 (1), DSP (1), MYH6 (1), RYR2 (1), SCN5A (1), MYH7 (1), TTN (1)	0.21154	0.45833	1.021e-23	2.454e-22	3
Constitutional mismatch repair deficiency	Lynch syndrome	10	5	MSH2 (8), MSH6 (8), APC (1), TGFBR2 (5), RNASET2 (1), PMS2 (7), TAF1B (1), MLH1 (8), ASTE1 (1), SLC22A9 (1)	0.18868	0.76923	1.134e-23	2.722e-22	39
Nasal polyp	Seasonal allergic rhinitis	15	1	ERBB3 (1), HLA-DQA1 (1), RPS26 (1), BACH2 (1), CLEC16A (1), HLA-B (1), IL18R1 (1), IL7R (1), ALOX15 (2), IL1RL1 (1), IL33 (1), RANBP6 (1)	0.12000	0.38462	1.141e-23	2.737e-22	103
Breast neoplasms	Mesothelioma	38	2	WT1 (3), CAT (1), TP53 (1), EGFR (1), SPP1 (1), BCL2 (1), ESR1 (2), PARP1 (1), SOD2 (1), IL6 (1), EFEMP1 (1), PDGFA (1)	0.06080	0.26207	1.161e-23	2.781e-22	4
Maturity-onset diabetes of the young (mody)	Permanent neonatal diabetes mellitus	9	8	HNF1B (2), INS (6), INS-IGF2 (1), ABCC8 (5), KCNJ11 (7), GCK (7), PTF1A (5), PDX1 (7), NEUROD1 (5)	0.31034	0.64286	1.218e-23	2.914e-22	35
Diabetic eye disease	Diabetic polyneuropathy	9	0	CDKAL1 (1), JAZF1 (1), NYAP2 (1), TCF7L2 (1), HLA-DQB1 (1), FTO (1), KCNQ1 (1), IGF2BP2 (1), WFS1 (1)	0.18367	1.00000	1.254e-23	2.996e-22	
Cutis laxa	Darier disease	8	8	ALDH18A1 (6), ATP6V0A2 (8), ELN (7), EFEMP2 (7), FBLN5 (6), ATP6V1A (8), ATP6V1E1 (7), PYCR1 (7)	0.36364	0.88889	1.448e-23	3.454e-22	94
Benign pemphigus	Cutis laxa	8	8	ALDH18A1 (6), ATP6V0A2 (8), ELN (7), EFEMP2 (7), FBLN5 (6), ATP6V1A (8), ATP6V1E1 (7), PYCR1 (7)	0.36364	0.88889	1.448e-23	3.454e-22	94
Celiac disease	Oligoarticular juvenile idiopathic arthritis	28	15	NFIA (1), RUNX1 (1), ANKRD55 (2), HLA-DQA1 (4), HLA-DRB1 (2), UBE2L3 (1), IL2 (1), RUNX3 (3), ATXN2 (1), HLA-DQB1 (4), IRF1 (1), SMAD3 (2)	0.08333	0.16471	1.460e-23	3.478e-22	
Anemia	Polycythemia	12	7	HBA1 (2), ACE (1), H2BC4 (1), HFE (1), EPO (3), EPOR (2), GH1 (2), HBB (3), HK1 (2), JAK2 (3), PRKCE (1), TMPRSS6 (1)	0.13043	0.63158	1.496e-23	3.560e-22	24
Anophthalmia/microphthalmia-esophageal atresia syndrome	Microphthalmia	11	10	BMP4 (6), PAX6 (3), SOX2 (5), STRA6 (3), SIX6 (4), C14orf39 (1), OTX2 (4), PORCN (3), RAX (4), VAX1 (4), VSX2 (6)	0.20755	0.44000	1.821e-23	4.329e-22	52
Congenital muscular dystrophy	Muscle eye brain disease	9	9	GMPPB (3), LARGE1 (2), CRPPA (3), POMT1 (3), POMT2 (3), POMGNT1 (4), FKRP (4), FKTN (4), POMK (2)	0.31034	0.60000	1.852e-23	4.399e-22	40
Brugada syndrome	Conduction disorder of the heart	12	7	PKP2 (4), TRPM4 (4), TTR (1), DSP (1), CACNA1C (7), KCNH2 (3), KCNQ1 (1), RYR2 (1), SCN5A (8), TTN (1), ANK2 (3), SCN1B (6)	0.15789	0.50000	1.883e-23	4.468e-22	3
Melas syndrome	Rod-cone dystrophy	10	5	ND1 (2), ND2 (1), ATP6 (1), COX3 (2), ATP8 (1), COX1 (2), ND5 (2), COX2 (2), ND3 (1), ND4 (1)	0.23810	0.55556	1.946e-23	4.611e-22	26
Dyskeratosis congenita	Hoyeraal hreidarsson syndrome	8	7	ACD (6), RTEL1 (6), TERT (8), PARN (6), POT1 (1), DKC1 (8), TINF2 (7), DCLRE1B (4)	0.29630	1.00000	1.997e-23	4.727e-22	77
Bladder calculus	Ureterolithiasis	9	0	ALPL (1), BCAS3 (1), PDILT (1), ABCG2 (1), RGS14 (1), BCAS1 (1), CYP24A1 (1), KLK15 (1), RSPH14 (1)	0.21429	0.90000	2.040e-23	4.824e-22	180
Psoriasis vulgaris	Psoriatic arthritis	15	4	IFIH1 (1), HLA-C (2), TNIP1 (1), RUNX3 (1), TRAF3IP2 (3), FAP (1), HLA-B (1), IL23R (1), MUC22 (1), NOS2 (3), TNFAIP3 (1), TYK2 (1)	0.13274	0.27778	2.225e-23	5.256e-22	14
Ectrodactyly	Split hand-foot malformation	7	6	TP63 (7), DLX5 (7), MAP3K20 (6), EPS15L1 (2), DLX6 (1), WNT10B (5), FBXW4 (2)	0.58333	0.87500	2.360e-23	5.569e-22	
Kidney failure	Nonalcoholic fatty liver disease	39	38	INS (2), CAT (2), SERPINA1 (3), ACE (2), APOE (2), ATP5F1B (2), CYP1A2 (3), MLXIPL (3), SCARB1 (2), SREBF1 (2), VEGFA (2), GSTP1 (2)	0.07372	0.15538	2.613e-23	6.160e-22	
Catecholaminergic polymorphic ventricular tachycardia	Wolff-parkinson-white syndrome	11	4	TRPM4 (1), DSP (1), KCNJ2 (3), CASQ2 (7), KCNH2 (1), LMNA (1), RYR2 (7), SCN5A (1), MYBPC3 (1), ANK2 (3), LAMA4 (1)	0.18033	0.55000	2.718e-23	6.401e-22	3
Lymphocytic leukemia	Lymphoid leukemia	14	0	TERT (1), GRAMD1B (1), FAS (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (1), SP140 (1), IRF8 (1), ACOXL (1), DMRTA1 (1), PALD1 (1), MYNN (1)	0.10769	0.50000	2.728e-23	6.416e-22	89
Arteriosclerosis	Ischemic heart disease	17	3	ABCG8 (1), APOB (1), APOE (2), LDLR (1), MMP12 (1), MMP3 (1), NOS3 (2), ESR1 (1), IL10 (1), PON1 (1), TLR4 (1), PTGS2 (1)	0.08718	0.41463	2.868e-23	6.738e-22	
Endometriosis	Migraine	52	11	ETV6 (1), RUNX1 (1), ASCC1 (1), CACNA1A (6), CAMK1D (1), ERBB4 (1), ETV1 (1), FOXP1 (1), LRP1B (1), MAP2K5 (1), NRP1 (3), PTPRD (1)	0.07133	0.13830	3.129e-23	7.345e-22	34
Focal segmental glomerulosclerosis	Genetic steroid-resistant nephrotic syndrome	11	9	NUP107 (1), ACTN4 (3), ARHGAP24 (1), CD2AP (5), FAT1 (3), MYO1E (4), PAX2 (4), TRPC6 (5), ANLN (4), CRB2 (5), INF2 (5)	0.20755	0.37931	3.353e-23	7.853e-22	20
Focal segmental glomerulosclerosis	Hereditary steroid-resistant nephrotic syndrome	11	11	NUP107 (2), ACTN4 (4), ARHGAP24 (2), CD2AP (6), MYO1E (5), PAX2 (5), TRPC6 (6), APOL1 (4), ANLN (5), CRB2 (6), INF2 (6)	0.20755	0.37931	3.353e-23	7.853e-22	20
Aortic aneurysm	Congenital aneurysm of ascending aorta	10	7	FBN1 (3), SMAD3 (2), FOXE3 (4), COL3A1 (1), MYH11 (5), NDE1 (1), TGFBR2 (2), LOX (5), SRFBP1 (1), MYLK (4)	0.15385	0.83333	3.426e-23	8.014e-22	50
Inflammatory bowel disease	Obstructive pulmonary disease	84	5	WWOX (1), ATP2A2 (1), AFF3 (1), ASCC2 (1), ATP8B4 (1), BSN (1), DCBLD1 (1), EMSY (1), ERBB3 (1), FADS1 (1), FADS2 (1), FOXP2 (1)	0.07204	0.15027	3.874e-23	9.055e-22	14
Age-related macular degeneration	Glaucoma	23	9	CFI (4), ABCA1 (1), ALDH1A2 (1), APOE (3), TNXB (1), C2 (3), C3 (3), MTHFR (1), PON1 (1), RAD51B (1), CFB (3), TGFBR1 (1)	0.07797	0.27711	4.170e-23	9.734e-22	
Congenital deformity of clavicle	Lethal congenital contracture syndrome	7	7	ADGRG6 (5), CNTNAP1 (4), GLDN (5), NEK9 (3), DNM2 (3), ZBTB42 (5), ADCY6 (5)	0.50000	1.00000	4.220e-23	9.799e-22	61
Congenital deformity of elbow	Lethal congenital contracture syndrome	7	7	ADGRG6 (5), CNTNAP1 (4), GLDN (5), NEK9 (3), DNM2 (3), ZBTB42 (5), ADCY6 (5)	0.50000	1.00000	4.220e-23	9.799e-22	61
Congenital deformity of forearm	Lethal congenital contracture syndrome	7	7	ADGRG6 (5), CNTNAP1 (4), GLDN (5), NEK9 (3), DNM2 (3), ZBTB42 (5), ADCY6 (5)	0.50000	1.00000	4.220e-23	9.799e-22	61
Congenital deformity of scapula	Lethal congenital contracture syndrome	7	7	ADGRG6 (5), CNTNAP1 (4), GLDN (5), NEK9 (3), DNM2 (3), ZBTB42 (5), ADCY6 (5)	0.50000	1.00000	4.220e-23	9.799e-22	61
Congenital deformity of wrist	Lethal congenital contracture syndrome	7	7	ADGRG6 (5), CNTNAP1 (4), GLDN (5), NEK9 (3), DNM2 (3), ZBTB42 (5), ADCY6 (5)	0.50000	1.00000	4.220e-23	9.799e-22	61
Febrile convulsion	Generalized epilepsy with febrile seizures plus	9	9	CPA6 (6), HCN1 (7), GABRG2 (6), ADGRV1 (6), SCN1A (8), SCN1B (7), SCN2A (2), SCN9A (2), STX1B (7)	0.30000	0.56250	4.231e-23	9.805e-22	228
Congenital muscular dystrophy	Walker-warburg syndrome	9	9	GMPPB (4), LARGE1 (3), CRPPA (4), POMT1 (4), POMT2 (4), POMGNT1 (4), FKRP (5), FKTN (3), POMK (3)	0.30000	0.56250	4.231e-23	9.805e-22	40
Leber hereditary optic neuropathy	Mitochondrial complex deficiency	14	10	ND1 (2), ND2 (2), NDUFS2 (5), ATP6 (2), COX3 (2), ATP8 (1), COX1 (1), ND5 (2), COX2 (1), ND3 (1), ND4 (2), ND4L (2)	0.10448	0.50000	4.516e-23	1.045e-21	
Heterotaxy syndrome	Tetralogy of fallot	13	11	PKD1L1 (4), CFC1 (5), ZIC3 (5), LEFTY2 (2), CERS1 (1), CRIPTO (2), GDF1 (3), CFAP45 (5), MMP21 (4), CFAP53 (4), ACVR2B (5), CFC1B (1)	0.10484	0.59091	4.668e-23	1.079e-21	
Ischemic heart disease	Ischemic stroke	18	1	ACE (1), APOE (1), KALRN (1), LIPG (1), F2 (1), MTHFR (1), PON1 (1), PON2 (1), TNF (1), MMP9 (2), LTA (1), ALOX5AP (1)	0.08824	0.35294	4.828e-23	1.115e-21	
Leopard syndrome	Noonan syndrome	9	7	BRAF (8), RPL6 (1), NRAS (7), EPHA2 (2), RAF1 (7), PTPN11 (8), MAP2K1 (6), MAP2K2 (4), MKRN2 (1)	0.22500	0.81818	5.098e-23	1.176e-21	49
Pancreatic neoplasms	Urinary bladder neoplasms	22	0	TERT (1), TP53 (1), EGFR (1), INPP4B (1), SOD2 (1), STAT3 (1), TNF (1), PTGS2 (1), HIF1A (1), KLF5 (1), IFNA2 (1), KRAS (1)	0.09244	0.18803	5.148e-23	1.187e-21	4
Nonsyndromic hearing loss	Nonsyndromic intellectual disability	22	22	OTOF (4), OTOGL (2), PNPT1 (3), TMC1 (5), TSPEAR (3), MET (3), DCDC2 (3), TBC1D24 (3), CABP2 (3), LOXHD1 (3), PTPRQ (4), KARS1 (3)	0.09244	0.18644	5.339e-23	1.229e-21	
Hemoglobinuria paroxysmal	Paroxysmal nocturnal hemoglobinuria	6	2	HLA-DQA1 (1), C3 (1), HLA-DQB1 (1), C5 (1), PIGA (6), PIGT (4)	0.85714	1.00000	5.407e-23	1.239e-21	
Congenital hypothyroidism without goiter	Congenital thyroid atrophy	6	0	TSHR (1), NKX2-5 (1), THRA (1), PAX8 (1), TSHB (1), IGSF1 (1)	0.85714	1.00000	5.407e-23	1.239e-21	102
Cerebellar ataxia, intellectual disability, and dysequilibrium	Dysequilibrium syndrome	6	6	WDR81 (4), VLDLR (5), ATP8A2 (4), TUBB2B (3), CA8 (3), RIPPLY1 (2)	0.85714	1.00000	5.407e-23	1.239e-21	260
Cold paroxysmal hemoglobinuria	Hemoglobinuria paroxysmal	6	2	HLA-DQA1 (1), C3 (1), HLA-DQB1 (1), C5 (1), PIGA (2), PIGT (2)	0.85714	1.00000	5.407e-23	1.239e-21	
Cold paroxysmal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	6	2	HLA-DQA1 (1), C3 (1), HLA-DQB1 (1), C5 (1), PIGA (5), PIGT (3)	0.85714	1.00000	5.407e-23	1.239e-21	
Behcet disease	Rhinitis	17	8	CAT (2), SERPINE1 (2), IL10 (4), IL1B (2), IL2 (1), IL4 (2), MBL2 (1), TLR4 (2), TNF (1), HLA-DQB1 (1), IL23R (2), NOD2 (1)	0.11039	0.26154	5.507e-23	1.260e-21	46
Cerebrovascular disorder	Heart disease	20	13	FGA (2), AGT (2), APOE (2), HDAC9 (2), LDLR (1), SMARCA4 (1), F2 (2), ATXN2 (1), ALB (2), TGFB1 (2), ABO (2), CELSR2 (1)	0.09479	0.23810	5.804e-23	1.327e-21	73
Focal glomerulosclerosis	Steroid-resistant nephrotic syndrome	10	0	WT1 (1), COL4A5 (1), COL4A4 (1), PAX2 (1), APOL1 (1), CRB2 (1), SMARCAL1 (1), AXDND1 (1), NPHS2 (1), NPHS1 (1)	0.16393	0.76923	5.949e-23	1.359e-21	20
Iga nephropathy	Systemic lupus erythematosus	48	19	RREB1 (1), NOTCH2 (2), AFF3 (1), ANKRD55 (1), CTNNA3 (1), DOCK10 (1), ETS1 (4), HLA-DQA1 (3), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (4), IKZF1 (3)	0.05926	0.23645	6.133e-23	1.399e-21	
Ciliopathy	Meckel-gruber syndrome	13	13	CC2D2A (6), RPGRIP1L (6), TMEM67 (7), TMEM138 (3), TMEM216 (7), TMEM231 (6), MKS1 (8), B9D1 (6), B9D2 (7), TCTN3 (4), TMEM107 (5), TMEM218 (2)	0.14130	0.39394	7.103e-23	1.619e-21	8
Cryptogenic west syndrome	West syndrome	8	0	CRH (1), POMC (1), STXBP1 (1), TSC2 (1), TSC1 (1), UPB1 (1), HSD17B4 (1), MC2R (1)	0.25806	1.00000	7.481e-23	1.703e-21	337
Hepatic insufficiency	Hepatomegaly	9	0	NOS3 (1), NFE2L2 (1), RELA (1), ALB (1), TGFB1 (1), KEAP1 (1), NOS2 (1), MAPK14 (1), CYGB (1)	0.15254	1.00000	7.960e-23	1.810e-21	80
Joubert syndrome	Nephronophthisis	13	11	NPHP4 (7), ZNF423 (6), CPLANE1 (6), CC2D2A (5), RPGRIP1L (5), NPHP3 (6), TMEM67 (6), NPHP1 (7), CEP290 (6), IFT140 (1), TTC21B (5), AHI1 (8)	0.15116	0.32500	8.072e-23	1.834e-21	8
Congenital hypothyroidism	Thyroid agenesis	7	4	TSHR (3), NKX2-5 (2), THRA (1), PAX8 (2), SLC26A4 (1), TSHB (1), IGSF1 (2)	0.46667	1.00000	8.440e-23	1.915e-21	102
Bardet-biedl syndrome	Senior-loken syndrome	10	8	NPHP4 (6), NPHP3 (3), AKT3 (1), NPHP1 (6), CEP290 (6), WDR19 (5), SCLT1 (4), SDCCAG8 (7), IQCB1 (6), RLIG1 (1)	0.15873	0.76923	8.652e-23	1.962e-21	8
Gastroesophageal reflux disease	Substance abuse	50	2	CACNA1D (1), ADGRL2 (1), AFF3 (1), AKAP6 (1), CABP1 (1), CACNA1A (1), CAMTA1 (1), CAPZA3 (1), CCKBR (2), CNTNAP5 (1), DCC (1), ERBB3 (1)	0.06702	0.17921	9.361e-23	2.120e-21	2
Ehlers-danlos syndrome	Loeys-dietz syndrome	10	8	FBN1 (2), COL5A1 (8), FBN2 (1), TGFB2 (6), SMAD3 (4), COL3A1 (7), MYH11 (1), TGFBR1 (6), TGFBR2 (7), COL5A2 (8)	0.19608	0.62500	9.536e-23	2.158e-21	50
Polycystic kidney disease	Polycystic liver disease	11	8	ALG8 (6), ALG9 (5), LRP6 (1), PKD2 (8), PKHD1 (8), LRP5 (5), GANAB (7), SEC63 (6), DKK3 (1), PRKCSH (6), ONECUT2 (1)	0.18033	0.47826	1.033e-22	2.335e-21	97
Platelet-type bleeding disorder	Thrombocytopenia	13	12	ITGB3 (6), MED12L (1), ITGA2 (2), ITGA2B (6), TPM4 (4), P2RY12 (6), GNE (4), FLI1 (5), ACTN1 (6), GFI1B (5), SLFN14 (6), RASGRP2 (7)	0.08844	0.65000	1.094e-22	2.471e-21	
Cataract-microcornea syndrome	Congenital cataract	9	9	CRYBB2 (3), MAF (4), CRYAA (4), CRYBA4 (3), NHS (2), GJA8 (4), CRYGC (4), CRYBB1 (4), CRYGD (3)	0.14754	1.00000	1.105e-22	2.493e-21	51
Cerebrovascular disorder	Vascular disease	15	10	AGT (2), HDAC9 (2), MTHFR (2), TNF (2), ATXN2 (1), TWIST1 (1), ABO (2), CELSR2 (1), LPA (1), PSRC1 (1), F5 (2), IL1RN (2)	0.12295	0.28846	1.153e-22	2.597e-21	
Idiopathic pulmonary fibrosis	Pulmonary fibrosis	18	12	KANSL1 (1), RTEL1 (4), TERT (4), PARN (3), PLAU (2), STAT3 (2), TNF (2), DSP (4), PTGS2 (1), MUC5B (4), MUC5AC (1), SFTPC (3)	0.10465	0.21951	1.304e-22	2.935e-21	
Deafness	Usher syndrome	17	15	PAX3 (2), PCDH15 (7), USH2A (7), ADGRV1 (7), PSAP (1), CDH23 (8), MYO7A (7), COCH (3), CIB2 (6), ESPN (6), OTOA (3), SERPINB6 (3)	0.08500	0.38636	1.550e-22	3.486e-21	31
Congenital muscular dystrophy due to dystroglycanopathy	Muscle eye brain disease	7	6	GMPPB (3), LARGE1 (2), CRPPA (2), POMGNT1 (3), TSPAN1 (1), FKRP (3), B3GALNT2 (3)	0.43750	1.00000	1.582e-22	3.555e-21	40
Non-small cell lung carcinoma	Seborrheic keratosis	14	0	TERT (1), TP63 (1), BNC2 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), LPP (1), TYR (1), DEF8 (1), CASP8 (1), FLACC1 (1)	0.10526	0.45161	1.770e-22	3.973e-21	16
Hemolytic uremic syndrome	Mesangiocapillary glomerulonephritis	8	8	CFHR1 (4), CFI (6), C3 (6), CD46 (6), CFB (6), CFH (6), CFHR5 (2), DGKE (6)	0.23529	1.00000	1.775e-22	3.979e-21	32
Head and neck neoplasms	Upper aerodigestive tract neoplasm	17	0	LAMC3 (1), RERGL (1), IL1A (1), IL1B (1), CCDC192 (1), HLA-DQB1 (1), TBC1D1 (1), CTLA4 (1), MACO1 (1), STK31 (1), CBLB (1), ADH1C (1)	0.08854	0.36170	1.884e-22	4.219e-21	
Thrombophilia	Venous thrombosis	10	10	F13A1 (3), F2 (6), MTHFR (3), PLAT (4), F5 (6), PLG (2), F8 (4), PROC (5), TFPI (2), SERPINA10 (2)	0.22222	0.45455	1.995e-22	4.459e-21	36
Aplasia of the vermis	Orofaciodigital syndrome	12	10	KIF7 (3), WDPCP (1), CPLANE1 (6), TMEM216 (3), TMEM231 (3), KIAA0753 (6), OFD1 (6), TMEM17 (1), TCTN3 (6), FAM149B1 (2), C2CD3 (6), PDE6D (2)	0.16000	0.37500	1.994e-22	4.459e-21	8
Colonic neoplasms	Lung neoplasms	32	1	WT1 (1), HNF1B (1), DPYD (1), TP53 (1), EGFR (1), PRKN (1), A2M (1), IL1B (1), MTHFR (1), STAT3 (1), TNF (1), CTNNB1 (1)	0.07512	0.15764	2.143e-22	4.786e-21	4
Colorectal neoplasms	Stomach neoplasms	40	0	DPYD (1), BMP2 (1), CHEK2 (1), TP53 (1), ARID1A (1), EGFR (1), ERCC2 (1), FADS1 (1), IGFBP3 (1), MTHFR (1), PPARG (1), SOD2 (1)	0.07168	0.13746	2.227e-22	4.966e-21	4
Sjogren syndrome	Systemic sclerosis	18	10	DGKQ (3), HLA-DQA1 (2), HLA-DRA (1), HLA-DRB1 (2), TNIP1 (3), HLA-DQB1 (2), ATG5 (1), MMP9 (2), HLA-DPB1 (1), IRF5 (2), PTPN22 (2), TNFAIP3 (3)	0.09890	0.25352	2.244e-22	4.999e-21	22
Hypothyroidism	Sarcoidosis	34	9	SH2B3 (1), BTNL2 (5), HLA-C (1), HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (5), HLA-DRB5 (1), TNXB (1), C2 (1), PPARG (1), TAP2 (1)	0.06746	0.20859	2.301e-22	5.122e-21	47
Distal spinal muscular atrophy	Spinal muscular atrophy	11	6	TRPV4 (2), VRK1 (1), SIGMAR1 (4), DYNC1H1 (4), HSPB1 (1), PLEKHG5 (2), GARS1 (4), HSPB8 (1), IGHMBP2 (5), FBXO38 (1), HSPB3 (1)	0.18966	0.35484	2.437e-22	5.419e-21	13
Seborrheic keratosis	Skin cancer	13	0	TERT (1), BNC2 (1), OCA2 (1), RALY (1), IRF4 (1), KRT5 (1), PTPN22 (1), LPP (1), TYR (1), CASP8 (1), CPVL (1), FLACC1 (1)	0.12621	0.41935	2.733e-22	6.072e-21	16
Ciliary dyskinesia	Ciliary dyskinesia, with or without situs inversus	10	10	DNAH5 (7), CCDC40 (6), DNAH11 (7), DNAI1 (5), RSPH4A (7), DNAAF3 (6), DNAAF19 (7), DNAAF4 (7), DRC1 (6), ODAD3 (7)	0.10870	0.90909	3.042e-22	6.751e-21	9
Tetralogy of fallot	Ventricular septal defect	15	15	TBX1 (5), GATA4 (6), BRAF (2), FBN2 (2), NKX2-6 (3), SMARCA4 (2), TBX5 (2), FLNA (2), GATA5 (4), TBX20 (2), NKX2-5 (6), CITED2 (6)	0.10563	0.35714	3.545e-22	7.860e-21	41
Colonic neoplasms	Pancreatic neoplasms	24	3	WT1 (1), HNF1B (1), DPYD (1), TP53 (1), EGFR (1), MECOM (2), PPARG (1), SOD2 (1), STAT3 (1), TNF (1), PTGS2 (1), CTNNB1 (1)	0.08081	0.20513	3.646e-22	8.075e-21	4
Myocardial ischemia	Nonalcoholic fatty liver disease	46	40	CDH2 (3), SERPINA1 (3), ACE (2), APOC1 (1), APOE (2), BTNL2 (2), JCAD (2), LDLR (3), MLXIPL (2), NYAP2 (1), PTPRD (2), SCARB1 (3)	0.06949	0.14557	3.726e-22	8.245e-21	
Congenital glaucoma	Hydrophthalmos	6	6	TCF7L2 (2), CYP1B1 (2), TEK (3), MYOC (3), GPATCH3 (2), LTBP2 (3)	0.75000	1.00000	3.785e-22	8.333e-21	
Congenital hypothyroidism without goiter	Thyroid agenesis	6	0	TSHR (1), NKX2-5 (1), THRA (1), PAX8 (1), TSHB (1), IGSF1 (1)	0.75000	1.00000	3.785e-22	8.333e-21	102
Congenital thyroid atrophy	Thyroid agenesis	6	0	TSHR (1), NKX2-5 (1), THRA (1), PAX8 (1), TSHB (1), IGSF1 (1)	0.75000	1.00000	3.785e-22	8.333e-21	102
Berardinelli-seip congenital lipodystrophy	Generalized lipodystrophy	6	5	PPARG (1), FOS (2), CAV1 (2), BSCL2 (2), CAVIN1 (2), AGPAT2 (2)	0.75000	1.00000	3.785e-22	8.333e-21	79
Diabetes mellitus ketosis prone	Idiopathic diabetes	6	0	INS (1), CTLA4 (1), IL2RA (1), CCR5 (1), HNF1A (1), SUMO4 (1)	0.75000	1.00000	3.785e-22	8.333e-21	
Cushing syndrome	Cushing's disease	8	8	TP53 (2), ATRX (2), BRAF (2), USP8 (2), POMC (2), USP48 (2), NR3C1 (2), CDH23 (2)	0.32000	0.72727	4.282e-22	9.418e-21	296
Heart disease	Large artery stroke	19	0	ABCG8 (1), HDAC9 (1), IL6R (1), JCAD (1), SMARCA4 (1), ATXN2 (1), ABO (1), CELSR2 (1), LPA (1), PSRC1 (1), ZPR1 (1), PLG (1)	0.09223	0.24359	4.560e-22	1.002e-20	73
Melas syndrome	Mitochondrial complex deficiency	12	7	ND1 (2), ND2 (1), ATP6 (1), COX3 (2), ATP8 (1), COX1 (2), ND5 (2), NDUFS1 (5), COX2 (2), ND3 (1), ND4 (1), CYTB (2)	0.09524	0.66667	4.589e-22	1.007e-20	
Joubert syndrome	Orofaciodigital syndrome	12	11	KIF7 (3), CPLANE1 (8), TMEM216 (6), TMEM231 (5), IFT140 (1), KIAA0753 (6), TBC1D32 (4), OFD1 (6), TCTN3 (6), TMEM107 (4), FAM149B1 (4), PDE6D (5)	0.15190	0.37500	5.159e-22	1.131e-20	8
Congenital nasopharyngeal atresia	Polynesian bronchiectasis	8	0	DNAH5 (1), CCDC40 (1), DNAH11 (1), DNAI1 (1), DNAAF3 (1), DNAAF19 (1), DNAAF4 (1), DRC1 (1)	0.25000	0.88889	6.724e-22	1.473e-20	9
Benign hereditary chorea	Chorea	7	4	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1), CACNA2D2 (2), ADCY5 (2), NKX2-1 (5), VPS13A (3)	0.36842	1.00000	7.826e-22	1.713e-20	1
Cutis laxa	Rothmund-thomson syndrome	8	8	ALDH18A1 (6), ATP6V0A2 (8), ELN (7), EFEMP2 (7), FBLN5 (6), ATP6V1A (8), ATP6V1E1 (7), PYCR1 (7)	0.32000	0.66667	7.948e-22	1.738e-20	94
Cerebellar ataxia	Cleft palate and bilateral cleft lip	11	0	ND1 (1), ND2 (1), ATP6 (1), COX3 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.09322	0.78571	7.984e-22	1.744e-20	
Gastric ulcer	Peptic ulcer disease	16	1	CCKBR (1), FUT2 (1), MECOM (1), PRKAA1 (1), TTC33 (1), IL1B (2), ABO (1), JRK (1), PSCA (1), PLCL2 (1), MUC1 (1), LY6K (1)	0.10063	0.30189	8.832e-22	1.927e-20	
Kidney disease	Myocardial infarction	64	33	APOA1 (1), SPI1 (1), COL4A4 (2), ACE (2), AGT (2), BCAS3 (1), CLU (2), COL6A3 (2), CUX2 (1), L3MBTL3 (1), LAMB2 (2), NYAP2 (1)	0.06794	0.15059	9.054e-22	1.974e-20	
Eye disease	Glaucoma	23	6	ABCA1 (1), ANTXR1 (1), CADM2 (1), HERC2 (1), ME3 (1), PDZD2 (1), PTCD2 (1), RARB (1), RBFOX1 (1), TCF7L2 (1), RPE65 (3), EFEMP1 (6)	0.07516	0.24468	9.716e-22	2.116e-20	
Hereditary sensory and autonomic neuropathy	Sensory neuropathy	8	7	NTRK1 (4), NGF (5), DNMT1 (3), FLVCR1 (1), WNK1 (7), KIF1A (6), SCN11A (6), RETREG1 (7)	0.32000	0.61538	1.239e-21	2.696e-20	173
Cutaneous mastocytosis	Mastocytosis	9	1	RPTN (1), HBE1 (1), HBG2 (1), KIT (6), ABCA2 (1), CYP2B6 (1), OR51B5 (1), OR51Q1 (1), PDE4DIP (1)	0.24324	0.52941	1.244e-21	2.704e-20	237
Focal segmental glomerulosclerosis	Idiopathic steroid-resistant nephrotic syndrome	10	10	NUP107 (2), ACTN4 (4), ARHGAP24 (2), CD2AP (6), MYO1E (5), PAX2 (5), TRPC6 (5), ANLN (4), CRB2 (5), INF2 (5)	0.20833	0.35714	1.251e-21	2.717e-20	20
Coronary artery disease	Open angle glaucoma	85	18	NFIA (1), PRDM16 (3), ZFPM2 (1), TP53 (1), ABCA1 (2), ALCAM (1), APOE (3), ARHGAP20 (1), BCAS3 (1), BNC2 (1), CDKN2B (3), CLIC5 (1)	0.05952	0.23035	1.258e-21	2.728e-20	
Hypertension	Migraine	90	27	CASZ1 (1), PRDM16 (3), RERE (1), RUNX1 (1), ATP1A2 (5), ACTN4 (1), ASCC1 (1), C1GALT1 (1), CAMK1D (1), CDH13 (1), CDH4 (1), CTNNA3 (1)	0.06148	0.22277	1.270e-21	2.753e-20	34
Bone disease	Osteoporosis	19	7	BMP2 (2), AXIN1 (1), HLA-DQA1 (1), HLA-DRB1 (1), RSPO3 (1), CYP19A1 (3), ESR1 (2), ZBTB40 (1), PTH (2), ALDH7A1 (3), CCDC170 (1), DDN (1)	0.09048	0.23171	1.297e-21	2.808e-20	
Atrial septal defect	Tetralogy of fallot	14	13	GATA4 (6), ROBO1 (2), SMARCA4 (2), TBX5 (2), TLL1 (6), CHD7 (2), MYH6 (6), TBX20 (6), NKX2-5 (7), ACTC1 (5), TPM1 (1), CITED2 (6)	0.10294	0.40000	1.329e-21	2.874e-20	41
Cardiomegaly	Ventricular dysfunction	14	0	ATP2A2 (1), AGT (1), DMD (1), SOD2 (1), TNF (1), AKT1 (1), IDH2 (1), NPPB (1), MYH6 (1), TNNT2 (1), PLPP3 (1), FNDC5 (1)	0.11966	0.30435	1.383e-21	2.988e-20	372
Anophthalmia	Microphthalmos	9	3	RARB (1), PAX6 (1), SOX2 (2), STRA6 (2), OTX2 (1), RAX (2), VSX2 (1), ARHGAP35 (1), RBP4 (1)	0.21429	0.64286	1.398e-21	3.017e-20	52
Cataract	Lamellar cataract	11	11	BFSP2 (5), CRYAA (5), CRYBA4 (6), CRYGC (6), CRYAB (6), CRYGD (6), CRYGS (6), HSF4 (5), MIP (6), CRYBA1 (4), CRYGB (6)	0.05446	1.00000	1.424e-21	3.069e-20	51
Cataract	Posterior subcapsular cataract	11	11	CRYBB2 (5), PITX3 (5), EPHA2 (6), CHMP4B (5), CRYAB (5), UNC45B (5), MIP (6), PANK4 (4), CRYBA1 (4), GJA3 (4), LEMD2 (6)	0.05446	1.00000	1.424e-21	3.069e-20	51
Ciliopathy	Nephronophthisis	13	12	ZNF423 (6), CC2D2A (3), RPGRIP1L (3), TMEM67 (5), IFT172 (4), WDR19 (6), ADAMTS9 (4), DCDC2 (7), SDCCAG8 (2), BBS9 (1), IQCB1 (4), CEP164 (4)	0.13131	0.32500	1.455e-21	3.132e-20	8
Cardiomegaly	Ventricular remodeling	12	0	GATA4 (1), AGT (1), LEP (1), AKT1 (1), MFN2 (1), NPPB (1), MYH6 (1), TBX20 (1), NPPA (1), HAND2 (1), ROCK2 (1), SIRT6 (1)	0.12245	0.48000	1.504e-21	3.234e-20	372
Adult myoclonic epilepsy	Benign myoclonic epilepsy	6	6	CTNND2 (3), ADRA2B (3), CNTN2 (3), MARCHF6 (3), SAMD12 (3), YEATS2 (3)	0.66667	1.00000	1.514e-21	3.247e-20	284
Intrahepatic bile duct cancer	Liver cancer	6	0	GATAD2A (1), MAU2 (1), HLA-DQB1 (1), IFNL3 (1), PNPLA3 (1), KLHL8 (1)	0.66667	1.00000	1.514e-21	3.247e-20	
Iga nephropathy	Ulcerative colitis	45	17	ATP2A2 (1), NOTCH2 (2), ANKRD55 (1), CTNNA3 (1), ETS1 (1), HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (3), IFT81 (1), IKZF1 (3), RORA (1), SERINC5 (1)	0.05844	0.22167	1.515e-21	3.247e-20	14
Catecholaminergic polymorphic ventricular tachycardia	Conduction disorder of the heart	9	4	DSG2 (1), PKP2 (2), TRPM4 (1), DSP (1), CASQ2 (7), KCNH2 (1), RYR2 (7), SCN5A (1), ANK2 (3)	0.25000	0.45000	1.626e-21	3.482e-20	3
Isolated sensorineural deafness	Nonsyndromic intellectual disability	21	21	OTOF (4), OTOGL (2), PNPT1 (3), TMC1 (4), MET (3), DCDC2 (3), TBC1D24 (2), CABP2 (3), LOXHD1 (3), PTPRQ (3), KARS1 (3), ELMOD3 (3)	0.08750	0.17647	1.848e-21	3.954e-20	
Gallstones	Liver disease	22	7	SERPINA1 (3), ABCG8 (2), APOE (1), ARHGEF28 (1), GCKR (1), CCK (2), ABCB1 (1), HNF4A (1), UGT1A10 (1), UGT1A8 (1), UGT1A9 (1), CYP7A1 (1)	0.08462	0.17742	1.956e-21	4.182e-20	
Thromboembolism	Venous thrombosis	8	0	PLAU (1), F2 (1), PLAT (1), JAK2 (1), LPA (1), F5 (1), PROC (1), F7 (1)	0.29630	0.66667	2.017e-21	4.302e-20	36
Centronuclear myopathy	Congenital structural myopathy	8	6	BIN1 (4), MTM1 (1), MTMR14 (3), RYR1 (3), TPM3 (1), DNM2 (4), MYF6 (2), CCDC78 (3)	0.29630	0.66667	2.017e-21	4.302e-20	377
Anophthalmia	Microphthalmia	9	9	RARB (7), PAX6 (2), SOX2 (3), STRA6 (3), OTX2 (3), RAX (3), VSX2 (6), RBP4 (5), SMOC1 (5)	0.20455	0.64286	2.419e-21	5.155e-20	52
Left ventricular noncompaction cardiomyopathy	Restrictive cardiomyopathy	10	3	PRDM16 (1), DMD (1), MYPN (3), DSP (1), MYH6 (1), MYH7 (1), TTN (1), ACTC1 (1), TNNI3 (3), TNNT2 (3)	0.19231	0.43478	2.571e-21	5.474e-20	3
Permanent neonatal diabetes mellitus	Transient neonatal diabetes mellitus	7	7	HNF1B (2), INS (5), GATA4 (2), ABCC8 (6), KCNJ11 (6), GCK (6), SLC2A2 (2)	0.41176	0.77778	3.036e-21	6.458e-20	35
Hashimoto disease	Hyperthyroidism	11	2	HLA-DQA1 (1), HLA-DRB1 (1), ICOS (1), BACH2 (1), CTLA4 (3), IL2RA (1), PTPN22 (1), TG (3), LPP (1), VAV3 (1), PDE8B (1)	0.15714	0.40741	3.315e-21	7.045e-20	309
Diabetes mellitus	Gestational diabetes	24	7	CDKAL1 (2), GLIS3 (1), HLA-DQB3 (1), LINGO2 (1), TCF7L2 (2), ZBTB20 (3), ZNF804A (1), INSR (1), IL6 (1), HLA-DQB1 (1), GCKR (1), KCNQ1 (1)	0.06612	0.26667	3.592e-21	7.626e-20	182
Anophthalmia/microphthalmia-esophageal atresia syndrome	Microphthalmos	10	9	PITX3 (3), TFAP2A (2), PAX6 (2), SOX2 (4), STRA6 (2), OTX2 (2), PORCN (2), RAX (2), VAX1 (2), VSX2 (1)	0.19231	0.40000	3.944e-21	8.365e-20	52
Mesothelioma	Peritoneal neoplasms	10	1	WT1 (3), PDPN (1), CALB2 (1), VIM (1), CTNNB1 (1), SLC2A1 (1), MCAM (1), MUC1 (1), IGF2BP3 (1), MLANA (1)	0.06849	1.00000	4.004e-21	8.484e-20	
Cerebellar ataxia	Postaxial polydactyly	12	0	KIF7 (1), ND1 (1), ND2 (1), ATP6 (1), COX3 (1), ATP8 (1), COX1 (1), ND5 (1), COX2 (1), ND3 (1), ND4 (1), ND4L (1)	0.09677	0.57143	4.160e-21	8.806e-20	
Limb girdle muscular dystrophy	Myopathy	14	12	DAG1 (2), PLEC (2), HMGCR (4), ASTN2 (1), CRPPA (3), TRAPPC11 (6), ANO5 (4), TTN (3), DYSF (6), LAMA2 (1), CAPN3 (7), TOR1AIP1 (6)	0.10219	0.36842	4.192e-21	8.865e-20	131
Leigh syndrome	Mitochondrial encephalomyopathy	11	11	MTRFR (3), FARS2 (3), NDUFS2 (5), POLG (2), DNM1L (4), SCO2 (3), NDUFV2 (4), LONP1 (4), FBXL4 (3), FOXRED1 (5), MFF (2)	0.09735	0.68750	4.566e-21	9.649e-20	62
Hodgkin lymphoma	Non-hodgkins lymphoma	20	0	TCF3 (1), CELF2 (1), GRAMD1B (1), HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (1), BCL2 (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (1), EOMES (1), SP140 (1)	0.08811	0.18018	4.633e-21	9.779e-20	
Left ventricular disease	Restrictive cardiomyopathy	11	6	PRDM16 (6), ACTA1 (1), MYPN (3), DSP (1), MYH6 (1), SYNE2 (2), MYH7 (3), TTN (1), ACTC1 (2), TNNT2 (3), SLC25A4 (1)	0.13924	0.47826	4.848e-21	1.022e-19	3
Anxiety disorder	Post-traumatic stress disorder	25	4	SOX5 (1), BPTF (1), ARHGAP15 (1), CNTNAP5 (1), DCC (1), FOXP2 (1), GRM8 (3), MAD1L1 (1), MAPT (3), PDE4B (1), SDK1 (1), SORCS3 (1)	0.07692	0.17123	5.263e-21	1.109e-19	2
hereditary nonpolyposis colon cancer	Lynch syndrome	8	8	CHEK2 (3), SMARCA4 (2), EPHX1 (2), PTPRJ (2), CDKN1B (2), NFKBIZ (2), XRCC4 (2), FAN1 (3)	0.16000	1.00000	5.764e-21	1.213e-19	
Atrial septal defect	Ventricular septal defect	11	5	BMP2 (1), CUL9 (1), GATA4 (6), SMARCA4 (1), TBX5 (1), TBX20 (6), NKX2-5 (6), ISL1 (1), CITED2 (7), GATA6 (6), HUWE1 (1)	0.16418	0.31429	5.932e-21	1.247e-19	41
Hypertension	Open angle glaucoma	84	23	HMGA2 (1), PRDM16 (1), RERE (1), ZFPM2 (1), CHEK2 (1), RUNX1 (1), TP53 (2), SPI1 (1), ALCAM (1), APOE (3), BCAS3 (1), BNC2 (1)	0.05854	0.22764	6.972e-21	1.465e-19	
Ciliopathy	Orofaciodigital syndrome	12	11	WDPCP (3), TMEM216 (4), TMEM231 (4), SCLT1 (1), TBC1D32 (5), IFT57 (5), OFD1 (6), TOPORS (3), TCTN3 (7), TMEM107 (4), PDE6D (3), DDX59 (7)	0.13043	0.37500	7.292e-21	1.530e-19	8
Endometriosis	Major depressive disorder	116	59	ETV6 (1), ANO4 (3), ASCC1 (1), BSN (1), C6orf118 (1), CACNA1A (1), CAMK1D (1), COP1 (1), EGFR (2), ERBB4 (1), ESR2 (3), ETV1 (1)	0.05223	0.30851	7.822e-21	1.640e-19	
Dementia	Scoliosis	105	1	ADAMTS1 (1), ANK3 (1), ASB3 (1), CCDC171 (1), CCDC91 (1), CHN2 (1), CNTNAP2 (1), CRADD (1), CSMD1 (1), CYYR1 (1), DGKB (1), DLG2 (1)	0.06912	0.17797	8.940e-21	1.873e-19	2
Cannabis abuse	Obsessive-compulsive disorder	24	3	COMT (1), ABT1 (1), BANK1 (1), CTNND1 (1), EPHX2 (1), LSAMP (1), PDE4B (1), PTPRF (1), SEMA6D (1), SLC39A8 (1), TCF20 (1), TENM2 (1)	0.07339	0.20690	9.000e-21	1.884e-19	
Aplasia of the vermis	Bardet-biedl syndrome	13	7	KIF7 (1), USH2A (1), WDPCP (7), RPGRIP1L (1), NPHP3 (1), TMEM67 (3), NPHP1 (3), CEP290 (5), IFT172 (5), TTC21B (1), IFT74 (6), MKS1 (5)	0.12871	0.24074	9.155e-21	1.914e-19	8
Myositis	Sjogren syndrome	14	9	DGKQ (3), HLA-DQA1 (2), HLA-DRA (1), HLA-DRB1 (2), TNIP1 (3), HLA-DQB1 (2), ATG5 (1), IRF5 (1), PTPN22 (2), TNFAIP3 (3), IL1RN (2), STAT4 (3)	0.11765	0.22951	9.586e-21	2.002e-19	22
Congenital nonspherocytic hemolytic anemia	Hemolytic anemia	9	9	GCLC (3), GSR (6), G6PD (6), GATA1 (2), HK1 (4), PKLR (3), AK1 (5), GPI (6), NT5C3A (6)	0.15254	0.75000	1.037e-20	2.165e-19	12
Cornelia de lange syndrome	De lange syndrome	6	6	HDAC8 (7), SMC1A (5), SMC3 (7), NIPBL (6), BRD4 (6), RAD21 (7)	0.54545	1.00000	1.136e-20	2.367e-19	301
Amelogenesis imperfecta	Hypomaturation amelogenesis imperfecta	7	7	SLC24A4 (6), AMELX (7), GPR68 (6), KLK4 (6), MMP20 (6), ODAPH (6), WDR72 (7)	0.26923	1.00000	1.182e-20	2.462e-19	390
Infantile spasms	West syndrome	8	0	CRH (1), POMC (1), STXBP1 (1), TSC2 (1), TSC1 (1), UPB1 (1), HSD17B4 (1), MC2R (1)	0.23529	0.72727	1.230e-20	2.559e-19	337
Hereditary breast cancer	Lynch syndrome	11	11	CHEK2 (4), EPCAM (8), MSH2 (7), MSH6 (8), ATM (3), MRE11 (2), PALB2 (3), PIK3CA (3), PMS2 (6), MLH1 (8), MUTYH (2)	0.15493	0.34375	1.245e-20	2.588e-19	39
Azoospermia	Male infertility single gene azoospermia	13	12	DDX25 (2), C14orf39 (2), MSH5 (2), FANCM (2), TDRD9 (2), CFTR (3), GCNA (2), MCMDC2 (1), MEIOB (2), MOV10L1 (2), PDHA2 (2), SYCP3 (3)	0.10236	0.40625	1.292e-20	2.684e-19	11
Keratinocyte carcinoma	Seborrheic keratosis	12	0	TERT (1), BNC2 (1), RALY (1), IRF4 (1), KRT5 (1), LPP (1), TYR (1), DEF8 (1), CASP8 (1), CPVL (1), FLACC1 (1), SLC45A2 (1)	0.12371	0.38710	1.304e-20	2.706e-19	16
Limb girdle muscular dystrophy	Walker-warburg syndrome	9	9	DAG1 (4), GMPPB (4), CRPPA (5), POMT1 (4), POMT2 (5), POMGNT1 (4), FKRP (5), FKTN (5), POMK (5)	0.19565	0.56250	1.377e-20	2.856e-19	
Megaloblastic anemia	Vitamin b deficiency	7	4	FUT2 (2), TCN2 (3), CUBN (2), AMN (1), TCN1 (2), MMAA (1), OOSP3 (1)	0.38889	0.58333	1.540e-20	3.190e-19	100
Brugada syndrome	Cardiac arrest	11	9	CACNB2 (6), SLMAP (4), TRPM4 (4), DSP (1), RYR2 (1), SCN5A (8), ANK2 (3), HCN4 (7), CACNA2D1 (4), AKAP9 (2), KCNJ8 (4)	0.13924	0.42308	1.577e-20	3.263e-19	3
Oligodendroglioma	Scoliosis	101	1	WWOX (1), ADGRB3 (1), ALCAM (1), ANK3 (1), C6orf118 (1), CDH13 (1), CHN2 (1), CNTNAP2 (1), DAB1 (1), DCC (1), DEPTOR (1), DGKB (1)	0.06769	0.18068	1.672e-20	3.458e-19	2
Color vision deficiency	Oligodendroglioma	97	0	SOX5 (1), WWOX (1), AGBL1 (1), C6orf118 (1), CADPS (1), CAMK1D (1), CDH13 (1), CPNE4 (1), DAB1 (1), DOCK4 (1), EGLN3 (1), FBXL7 (1)	0.06788	0.17352	1.683e-20	3.477e-19	2
Hypercholesterolemia	Ischemic heart disease	16	11	APOA1 (1), ABCA1 (2), APOB (6), APOE (2), EPHX2 (3), LDLR (6), LIPC (1), HMGCR (2), LPL (2), PON1 (2), PON2 (1), ABCG5 (1)	0.07960	0.34783	1.769e-20	3.650e-19	
Neurotic disorder	Psychiatric disorders	39	1	B3GALT1 (1), CAMTA1 (1), CTNNA3 (1), DCC (1), ERBB4 (1), FAM135B (1), GABBR1 (1), IGSF11 (1), LSAMP (1), MAPT (2), RBMS3 (1), SORCS3 (1)	0.06331	0.17808	1.792e-20	3.694e-19	
46,xy gonadal dysgenesis	Swyer syndrome	7	7	NR5A1 (2), SOX9 (2), SRY (2), CBX2 (2), DHH (2), DHX37 (2), MAP3K1 (2)	0.36842	0.70000	1.896e-20	3.906e-19	149
Macular and posterior pole degeneration	Retinopathy	9	0	CFI (1), C3 (1), CD46 (1), PDGFB (1), RPL3 (1), CETP (1), CFH (1), RDH5 (1), ARMS2 (1)	0.15789	0.69231	1.947e-20	4.005e-19	
Arthrogryposis multiplex congenita	Distal arthrogryposis	10	8	PIEZO2 (4), RYR1 (1), ECEL1 (5), MYH3 (5), TPM2 (5), CNTNAP1 (1), MYH8 (2), NALCN (2), TNNI2 (5), TNNT3 (5)	0.12658	0.62500	2.040e-20	4.194e-19	
Hypersensitivity	Rhinitis	14	14	CCL24 (2), HLA-DQA1 (2), MS4A2 (2), IL10 (2), IL1B (2), IL4 (2), TNF (2), HLA-DQB1 (2), ALB (2), IFNG (2), IL17A (2), CCR2 (2)	0.11475	0.21538	2.063e-20	4.236e-19	46
Focal glomerulosclerosis	Focal segmental glomerulosclerosis	11	10	ACTN4 (3), ARHGAP24 (1), CD2AP (5), MYO1E (4), PAX2 (4), TRPC6 (5), APOL1 (4), TRIM8 (4), ANLN (4), CRB2 (5), INF2 (5)	0.14474	0.37931	2.110e-20	4.329e-19	20
Hyperalgesia	Hypotension	15	0	AGT (1), GRIN2B (1), IL1A (1), IL1B (1), TNF (1), AVP (1), IL6 (1), PDYN (1), TAC1 (1), KNG1 (1), BDKRB2 (1), CNR1 (1)	0.10563	0.22388	2.117e-20	4.340e-19	66
nonsyndromic genetic hearing loss	Nonsyndromic intellectual disability	18	18	OTOF (3), OTOGL (3), TMC1 (3), MET (3), DCDC2 (3), TBC1D24 (2), CABP2 (3), LOXHD1 (3), KARS1 (3), ELMOD3 (3), LHFPL5 (4), MSRB3 (3)	0.08738	0.21951	2.396e-20	4.907e-19	
Anemia	Hemolytic anemia	14	11	EPO (3), GSR (5), ABO (2), ANK1 (1), G6PD (2), GATA1 (2), HBB (2), HK1 (3), HP (2), IFNA2 (1), ITPA (2), SHH (2)	0.11111	0.25455	2.416e-20	4.943e-19	
Cataract-microcornea syndrome	Nuclear cataract	7	7	CRYBB2 (3), CRYAA (3), NHS (3), GJA8 (4), CRYGC (3), CRYBB1 (3), CRYGD (3)	0.33333	0.77778	2.814e-20	5.752e-19	51
Azoospermia	Spermatogenic failure	13	12	C14orf39 (4), MSH5 (4), FANCM (4), TDRD9 (4), BRDT (4), DMC1 (2), FAHD1 (1), KASH5 (3), MEIOB (4), MOV10L1 (3), PDHA2 (4), SYCP3 (5)	0.09701	0.40625	3.066e-20	6.263e-19	11
Male infertility globozoospermia	Male infertility round headed spermatozoa	6	6	PICK1 (3), SPATA16 (2), SEPTIN4 (2), DPY19L2 (2), ZPBP (2), GGN (2)	0.54545	0.85714	3.179e-20	6.487e-19	
Atopic dermatitis	Autoimmune hepatitis	12	10	IL10 (2), IL2 (2), IL4 (2), IL6 (2), VDR (1), TGFB1 (2), IFNG (2), CTLA4 (1), IL13 (2), IL18 (2), CCL5 (2), IL5 (2)	0.12903	0.31579	3.317e-20	6.762e-19	46
Arteriosclerosis	Atherosclerosis	14	14	APOB (2), APOE (3), LDLR (3), NOS3 (2), ESR1 (2), ICAM1 (2), PON1 (2), TLR4 (2), PTGS2 (2), HP (2), ABCG5 (2), VCAM1 (2)	0.09524	0.34146	3.651e-20	7.435e-19	
Congenital microcephaly	Primary microcephaly	10	10	ASPM (4), CDK5RAP2 (4), MCPH1 (3), CIT (3), WDR62 (3), CEP152 (3), CPAP (3), KNL1 (3), PHC1 (3), STIL (4)	0.17544	0.32258	3.834e-20	7.802e-19	137
Brain infarction	Cerebral amyloid angiopathy	12	1	APOE (3), CDKAL1 (1), KAZN (1), PTPRD (1), SGK1 (1), HS3ST4 (1), ATP10A (1), POLD3 (1), ABTB2 (1), KCNB2 (1), RAG1 (1), SLC29A4 (1)	0.12500	0.33333	3.985e-20	8.102e-19	
Meniere disease	Nonsyndromic hearing loss	16	14	COL11A1 (3), MYO1C (2), OTOGL (1), PCDH15 (3), OTOG (3), TNC (4), MYO6 (4), TRIOBP (3), CDH23 (3), MYO7A (4), WFS1 (3), TBCEL-TECTA (1)	0.09412	0.23881	4.014e-20	8.153e-19	31
Anophthalmia	Anophthalmia/microphthalmia-esophageal atresia syndrome	8	5	WNT7B (1), ELP4 (1), PAX6 (2), SOX2 (4), STRA6 (2), OTX2 (2), RAX (3), VSX2 (1)	0.25000	0.57143	4.127e-20	8.375e-19	52
Mastocytosis	Systemic mastocytosis	9	1	HBE1 (1), HBG2 (1), KIT (5), CLIC1 (1), MSH5 (1), ABCA2 (1), OR51B5 (1), MOCS1 (1), OR51Q1 (1)	0.20930	0.39130	4.154e-20	8.421e-19	237
C3 glomerulonephritis	Mesangiocapillary glomerulonephritis	6	6	CFHR1 (3), CFI (4), C3 (4), CFB (4), CFH (4), CFHR5 (6)	0.54545	0.75000	4.238e-20	8.585e-19	32
Cholecystolithiasis	Liver disease	22	7	SERPINA1 (3), ABCG8 (2), APOE (1), SERPINA2 (1), GCKR (1), CCK (2), ABCB1 (1), HNF4A (1), UGT1A10 (1), UGT1A8 (1), UGT1A9 (1), CYP7A1 (1)	0.07914	0.15493	4.320e-20	8.742e-19	
Isolated sensorineural deafness	Meniere disease	16	0	COL11A1 (1), MYO1C (1), OTOGL (1), PCDH15 (1), OTOG (1), TNC (1), MYO6 (1), TRIOBP (1), CDH23 (1), MYO7A (1), WFS1 (1), MYH14 (1)	0.09357	0.23881	4.623e-20	9.347e-19	31
Ciliary dyskinesia	Situs ambiguus	11	10	DNAH5 (7), DNAH6 (2), CCDC39 (7), CCDC40 (6), DNAAF1 (6), CFAP298-TCP10L (1), DNAAF11 (7), CFAP298 (8), ODAD4 (7), CFAP300 (7), DNAH9 (6)	0.10891	0.52381	4.860e-20	9.818e-19	
Congenital heart defects	Tetralogy of fallot	16	15	TBX1 (5), GATA4 (6), JAG1 (6), MTHFR (2), FLNA (2), MYRF (2), MYH6 (2), MYH7 (2), HAND2 (2), GATA6 (6), ABL1 (2), NIPBL (2)	0.09467	0.22857	4.879e-20	9.846e-19	41
Diabetes mellitus type 2	Scoliosis	326	35	COMT (1), COL2A1 (2), PDE4D (1), SH2B3 (1), ETV6 (1), ADK (1), GBE1 (1), IFIH1 (1), SERPINF2 (1), ADARB2 (1), ADGRB3 (1), ADGRL2 (1)	0.08606	0.31559	5.547e-20	1.118e-18	2
Arrhythmogenic right ventricular dysplasia	Conduction disorder of the heart	8	0	DSG2 (1), JUP (1), PKP2 (1), DSP (1), RYR2 (1), SCN5A (1), MYH7 (1), TTN (1)	0.25000	0.53333	6.010e-20	1.211e-18	3
Obesity	Osteoarthritis	130	39	SOX5 (1), WWOX (1), ACAN (1), AGAP1 (1), AKAP1 (3), ALDH1A2 (2), APOC1 (2), APOE (3), ASB3 (1), BCAS3 (1), CCDC33 (1), CCDC91 (1)	0.07242	0.17808	6.224e-20	1.253e-18	2
Short qt syndrome	Ventricular fibrillation	8	5	CACNB2 (1), TRPM4 (1), KCNJ2 (6), CACNA1C (3), KCNH2 (5), SCN5A (3), CACNA2D1 (2), VCL (1)	0.20000	0.72727	6.351e-20	1.277e-18	
autosomal dominant nonsyndromic hearing loss	Nonsyndromic hearing loss	9	9	COL11A1 (2), LMX1A (4), ATP2B2 (3), RIPOR2 (5), PDE1C (2), ATP11A (2), ABCC1 (2), CD164 (4), PLS1 (3)	0.07563	1.00000	6.683e-20	1.343e-18	31
Autoimmune hepatitis	Hypersensitivity	12	12	HLA-DQA1 (2), HLA-DRB1 (2), IL10 (2), IL4 (2), IL6 (2), HLA-DQB1 (3), TGFB1 (2), IFNG (2), CCL2 (2), CXCL1 (2), IL13 (2), IL18 (2)	0.12371	0.31579	7.124e-20	1.430e-18	46
autosomal dominant nonsyndromic hearing loss	Isolated sensorineural deafness	9	9	COL11A1 (2), LMX1A (2), ATP2B2 (2), RIPOR2 (2), PDE1C (2), ATP11A (2), ABCC1 (2), CD164 (2), PLS1 (2)	0.07500	1.00000	7.230e-20	1.450e-18	31
Anxiety disorder	Depression	27	21	APP (2), CTNND2 (1), DISC1 (2), FOXP2 (2), HTR1A (1), NTRK2 (2), CRH (2), NPY (2), TNF (2), DRD2 (3), DRD4 (2), GAD1 (1)	0.06767	0.18493	7.523e-20	1.507e-18	2
Lung neoplasms	Mesothelioma	26	1	WT1 (3), APOA1 (1), TP53 (1), EGFR (1), SPP1 (1), ESR1 (1), IL6 (1), EPHX1 (1), FHIT (1), GSTM1 (1), EFEMP1 (1), EGR1 (1)	0.06952	0.17931	7.835e-20	1.568e-18	4
46,xy sex reversal	Swyer syndrome	6	5	NR5A1 (1), SRY (2), CBX2 (2), DHX37 (2), MAP3K1 (2), NR0B1 (2)	0.50000	0.85714	7.947e-20	1.589e-18	149
Coronary artery disease	Osteoarthritis	126	36	SOX5 (1), NFIA (1), COL2A1 (2), SERPINA1 (1), ADARB2 (1), ALDH1A2 (2), APOC1 (1), APOE (3), ARHGAP15 (1), BCAS3 (1), BLTP3A (1), BNC2 (1)	0.07208	0.17260	9.204e-20	1.839e-18	
Intrahepatic cholestasis of pregnancy	Liver disease	12	5	SERPINA1 (3), ABCG8 (1), TNF (2), GCKR (1), ABCB1 (1), NR1H4 (3), HNF4A (1), CYP7A1 (1), ABCB11 (2), ABCB4 (4), UBXN2B (1), ENPP7 (1)	0.07229	0.60000	9.678e-20	1.932e-18	
Amphetamine or sympathomimetic abuse	Substance-induced psychosis	10	10	GSTP1 (2), HTR6 (2), SNCA (2), ADORA2A (2), AKT1 (2), GRM2 (2), NPY1R (2), OPRM1 (2), PICK1 (2), SLC6A3 (2)	0.11765	0.58824	1.008e-19	2.010e-18	
Non-small-cell lung carcinoma	Urinary bladder neoplasms	21	0	CAT (1), TERT (1), TP53 (1), EGFR (1), GSTP1 (1), MT3 (1), SOD2 (1), STAT3 (1), HIF1A (1), CSF3 (1), KRAS (1), MMP9 (1)	0.07955	0.14789	1.020e-19	2.032e-18	4
Crigler-najjar syndrome	Gallstones	9	9	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A1 (7), UGT1A6 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.07200	1.00000	1.061e-19	2.111e-18	
Muscle eye brain disease	Muscular dystrophy	9	9	DAG1 (2), GMPPB (3), LARGE1 (2), CRPPA (2), POMT1 (3), POMT2 (3), POMGNT1 (3), FKRP (3), FKTN (3)	0.15517	0.60000	1.121e-19	2.231e-18	
Cholelithiasis	Pulmonary fibrosis	19	19	CAT (2), SERPINA1 (2), AGT (2), SERPINE1 (2), IGF1 (2), IL1B (2), NFE2L2 (2), TNF (2), IL6 (2), HMGB1 (2), TGFB1 (2), ACTA2 (2)	0.08333	0.17757	1.125e-19	2.235e-18	
Epidermolysis bullosa	Junctional epidermolysis bullosa	8	8	COL7A1 (6), PLEC (8), LAMB3 (6), KRT5 (7), ITGB4 (7), ITGA6 (7), KRT14 (7), KLHL24 (6)	0.25000	0.44444	1.130e-19	2.243e-18	229
Central nervous system cancer	Scoliosis	110	3	AKAP6 (1), ANK3 (1), ANO4 (1), C6orf118 (1), CDKAL1 (1), CSMD1 (1), CTNNA3 (1), DCC (1), DGKB (1), EGFR (1), EPHA4 (1), FKBP1C (1)	0.06962	0.16768	1.148e-19	2.277e-18	
Spastic ataxia	Spastic paraplegia	16	15	SETX (1), SPG11 (4), PNPLA6 (4), CYP7B1 (4), VAMP1 (5), KIF1C (5), SACS (3), SPG7 (4), SPAST (4), KIF1A (5), AMPD2 (4), FA2H (4)	0.09143	0.22857	1.151e-19	2.282e-18	
Atrophic macular degeneration	Glaucoma	18	1	CFI (1), ABCA1 (1), ALDH1A2 (1), APOE (2), C2 (1), C3 (1), RAD51B (1), CFB (1), TGFBR1 (1), SYN3 (1), CETP (1), CFH (1)	0.06593	0.32143	1.231e-19	2.438e-18	
Aortic dissection	Thoracic aortic aneurysm and aortic dissection	9	7	FBN1 (5), SMAD3 (6), COL1A1 (2), FOXE3 (5), COL3A1 (1), TGFBR1 (6), TGFBR2 (6), LOX (5), SRFBP1 (1)	0.17647	0.50000	1.252e-19	2.477e-18	
Craniofacial abnormalities	Growth disorder	14	10	RAI1 (2), FGD1 (2), LTBP3 (2), ATRX (2), CNTN4 (1), IDH2 (2), SH3PXD2B (1), TBX15 (2), AHR (2), DNMT3A (2), ERCC6 (2), LPAR1 (2)	0.07865	0.40000	1.281e-19	2.531e-18	41
Febrile convulsion	Seizures	12	11	NF1 (1), ANO3 (2), CPA6 (5), HCN1 (2), SCN8A (5), CHAT (2), GABRG2 (5), SCN1A (2), SCN1B (2), SCN2A (5), IMPA2 (2), STX1B (2)	0.07895	0.54545	1.291e-19	2.549e-18	
Urinary bladder neoplasms	Uterine neoplasms	14	0	FGFR3 (1), TERT (1), EGFR (1), MTHFR (1), STAT3 (1), CSF3 (1), JAK2 (1), KRAS (1), MYC (1), CLPTM1L (1), CCND1 (1), BAP1 (1)	0.08383	0.36842	1.339e-19	2.639e-18	4
Non-small-cell lung carcinoma	Uterine neoplasms	14	0	TERT (1), EGFR (1), ERCC1 (1), VEGFA (1), STAT3 (1), CYLD (1), CSF3 (1), KRAS (1), MYC (1), CASP8 (1), CLPTM1L (1), BIRC5 (1)	0.08383	0.36842	1.339e-19	2.639e-18	4
Polymorphous corneal dystrophy	Posterior polymorphous corneal dystrophy	5	5	COL8A2 (4), OVOL2 (4), VSX1 (4), GRHL2 (3), ZEB1 (4)	0.83333	1.00000	1.387e-19	2.717e-18	87
Hereditary hyperekplexia	Hyperekplexia	5	5	GPHN (5), SLC6A5 (6), GLRA1 (5), ATAD1 (6), GLRB (5)	0.83333	1.00000	1.387e-19	2.717e-18	322
Congenital or early infantile cach syndrome	Cree leukoencephalopathy	5	5	EIF2B3 (2), EIF2B1 (2), EIF2B2 (2), EIF2B4 (2), EIF2B5 (2)	0.83333	1.00000	1.387e-19	2.717e-18	174
Congenital or early infantile cach syndrome	Vanishing white matter disease	5	5	EIF2B3 (3), EIF2B1 (4), EIF2B2 (4), EIF2B4 (4), EIF2B5 (4)	0.83333	1.00000	1.387e-19	2.717e-18	174
Cree leukoencephalopathy	Vanishing white matter disease	5	5	EIF2B3 (2), EIF2B1 (3), EIF2B2 (3), EIF2B4 (3), EIF2B5 (3)	0.83333	1.00000	1.387e-19	2.717e-18	174
Central vertigo	Peripheral vertigo	5	0	OTOGL (1), ZNF91 (1), LYAR (1), QRSL1 (1), TMEM128 (1)	0.83333	1.00000	1.387e-19	2.717e-18	
Bronchus cancer	Respiratory system cancer	5	0	TERT (1), CHRNA4 (1), CHRNA5 (1), BRCA2 (1), CYP2A6 (1)	0.83333	1.00000	1.387e-19	2.717e-18	
Male infertility	Spermatogenic failure	18	18	NR5A1 (4), DMRT1 (3), CATSPER1 (5), TDRD9 (4), DNAH10 (5), SEPTIN4 (2), MOV10L1 (3), SYCP3 (5), STX2 (3), PNLDC1 (4), SHOC1 (4), M1AP (4)	0.08654	0.16216	1.498e-19	2.933e-18	11
Disseminated intravascular coagulation	Venous thrombosis	7	7	F13A1 (2), F2 (2), SERPINC1 (2), PROC (2), TFPI (2), F3 (2), F7 (2)	0.28000	0.77778	1.507e-19	2.947e-18	36
Congenital hypothyroidism	Congenital thyroid atrophy	6	4	TSHR (3), NKX2-5 (2), THRA (1), PAX8 (2), TSHB (1), IGSF1 (2)	0.40000	1.00000	1.624e-19	3.170e-18	102
Congenital hypothyroidism	Congenital hypothyroidism without goiter	6	4	TSHR (3), NKX2-5 (2), THRA (1), PAX8 (2), TSHB (1), IGSF1 (2)	0.40000	1.00000	1.624e-19	3.170e-18	102
Cytochrome c oxidase deficiency	Leigh syndrome	11	11	LRPPRC (5), SCO2 (5), SCO1 (4), COX15 (5), SURF1 (6), PET100 (2), COX10 (5), TACO1 (4), COX4I1 (2), COX8A (2), PET117 (2)	0.09402	0.55000	1.716e-19	3.347e-18	62
Carcinoma	Stomach neoplasms	29	0	SOX9 (1), TP53 (1), BCL2L1 (1), EGFR (1), RHOA (1), ENO1 (1), GSTP1 (1), SOD2 (1), STAT3 (1), FHIT (1), PTGS2 (1), DNMT3B (1)	0.06546	0.17576	1.775e-19	3.459e-18	4
Carcinoma	Lung neoplasms	27	0	SOX9 (1), ACTB (1), PTEN (1), TP53 (1), TP63 (1), BCL2L1 (1), EGFR (1), ESR1 (1), GSTP1 (1), GSTT1 (1), STAT3 (1), TLR4 (1)	0.06870	0.16364	1.786e-19	3.477e-18	4
Pancreatic neoplasms	Thyroid neoplasms	14	1	HNF1B (1), TERT (1), TP53 (1), MSH6 (2), PPARG (1), TNF (1), PTGS2 (1), HIF1A (1), CTNNB1 (1), KLF5 (1), IFNA2 (1), KRAS (1)	0.09333	0.30435	1.879e-19	3.655e-18	4
X-linked intellectual disability	X-linked syndromic intellectual disability	8	8	CASK (4), ZC4H2 (2), RPL10 (4), BRWD3 (2), LAS1L (2), NONO (2), DDX3X (4), USP9X (4)	0.10667	1.00000	1.926e-19	3.744e-18	
Congenital heart disease	Ventricular septal defect	15	11	TBX1 (1), GATA4 (3), NKX2-6 (3), TBX5 (1), BMP7 (1), NFATC1 (2), GATA5 (4), TBX20 (3), NKX2-5 (3), COL1A2 (2), ISL1 (3), CITED2 (6)	0.07500	0.35714	2.150e-19	4.175e-18	41
Congenital nonbullous ichthyosiform erythroderma	Ichthyosis	7	6	TGM1 (2), ABCA12 (2), ALOX12B (2), ALOXE3 (2), PNPLA1 (2), CERS3 (2), UGCG (1)	0.31818	0.58333	2.222e-19	4.311e-18	232
Hypertensive heart disease	Hypertensive nephropathy	7	0	PRKAG2 (1), SCARB1 (1), TCF7L2 (1), APOL1 (1), FTO (1), PDILT (1), DCDC1 (1)	0.29167	0.70000	2.282e-19	4.424e-18	313
Hyperinsulinemic hypoglycemia	Hyperinsulinism	8	7	HADH (6), INSR (6), ABCC8 (7), SLC16A1 (3), KCNJ11 (6), GCK (5), GLUD1 (3), SHLD2 (1)	0.17391	0.72727	2.475e-19	4.792e-18	35
Bradycardia	Catalepsy	8	8	AGT (2), TRH (2), GCG (2), PRL (2), POMC (2), DRD2 (2), ADORA1 (2), NTS (2)	0.22857	0.50000	2.549e-19	4.931e-18	66
Muscular dystrophy	Walker-warburg syndrome	9	9	DAG1 (3), GMPPB (2), LARGE1 (3), CRPPA (3), POMT1 (3), POMT2 (3), POMGNT1 (3), FKRP (3), FKTN (3)	0.15254	0.56250	2.557e-19	4.943e-18	
Nuclear cataract	Posterior subcapsular cataract	7	7	CRYBB2 (2), EPHA2 (3), CRYAB (3), UNC45B (3), MIP (3), CRYBA1 (3), GJA3 (3)	0.30435	0.63636	2.576e-19	4.976e-18	51
Attention deficit hyperactivity disorder	Central nervous system cancer	114	6	TEAD1 (1), AKAP6 (1), ANK3 (1), ANO4 (1), C6orf118 (1), CACNA2D3 (1), CDKAL1 (1), CSMD1 (1), CTNNA3 (1), CUX1 (1), DCC (1), DGKI (1)	0.06917	0.17378	2.646e-19	5.106e-18	
Blood coagulation disorder	Thrombophilia	9	5	F2 (6), MTHFR (3), ABO (1), SLC19A2 (1), F5 (6), PROC (6), ATP1B1 (1), FGG (3), NME7 (1)	0.18750	0.37500	2.686e-19	5.180e-18	36
Hereditary steroid-resistant nephrotic syndrome	Steroid-resistant nephrotic syndrome	8	8	WT1 (2), COL4A3 (2), PAX2 (2), APOL1 (2), CRB2 (2), NPHS2 (2), AVIL (2), NPHS1 (2)	0.20000	0.61538	2.964e-19	5.711e-18	20
Microphthalmia	Nanophthalmos	8	7	PRSS56 (4), SOX2 (4), SIX6 (4), OTX2 (4), RAX (4), ALDH1A3 (4), MFRP (6), C1QTNF5 (1)	0.18605	0.66667	3.073e-19	5.914e-18	52
Periventricular heterotopia, x-linked	Periventricular nodular heterotopia	6	6	ARFGEF2 (3), FLNA (7), MAP1B (6), NEDD4L (6), ARF1 (6), ERMARD (8)	0.42857	0.85714	3.496e-19	6.723e-18	
Clonal hematopoiesis	Myeloproliferative disorder	12	2	CHEK2 (1), RUNX1 (1), TERT (2), PARP1 (1), HBS1L (1), JAK2 (2), CYRIA (1), ATM (1), STN1 (1), DLK1 (1), TCL1A (1), TUNAR (1)	0.12245	0.22642	3.619e-19	6.954e-18	98
Omenn syndrome	Severe combined immunodeficiency	8	7	LIG4 (3), IL7R (4), ADA (7), RAG1 (6), IL2RG (4), IFTAP (1), RAG2 (6), DCLRE1C (7)	0.14815	0.80000	3.644e-19	6.996e-18	
Larsen syndrome	Osteoporosis-pseudoglioma syndrome	9	2	GORAB (1), XYLT1 (1), P4HA1 (1), CHST3 (3), XYLT2 (1), B3GALT6 (1), B3GAT3 (5), B4GALT7 (1), PLOD3 (1)	0.15517	0.52941	3.664e-19	7.021e-18	127
Bone fragility with contractures, arterial rupture, and deafness	Larsen syndrome	9	3	GORAB (1), XYLT1 (1), P4HA1 (1), CHST3 (3), XYLT2 (1), B3GALT6 (1), B3GAT3 (5), B4GALT7 (1), PLOD3 (3)	0.15517	0.52941	3.664e-19	7.021e-18	127
Cholecystolithiasis	Crigler-najjar syndrome	9	9	UGT1A10 (2), UGT1A8 (2), UGT1A9 (2), UGT1A1 (7), UGT1A6 (2), UGT1A3 (2), UGT1A4 (2), UGT1A5 (2), UGT1A7 (2)	0.06294	1.00000	3.733e-19	7.148e-18	
Estrogen-receptor negative breast cancer	Triple negative breast cancer	16	0	TERT (1), TP53 (1), CCDC91 (1), MDM4 (1), CDCA7 (1), PTHLH (1), FGFR2 (1), TNFSF10 (1), MLLT10 (1), C11orf65 (1), ABHD8 (1), CCDC170 (1)	0.05079	0.47059	3.746e-19	7.165e-18	
Combined pituitary hormone deficiency	Pituitary hormone deficiency	6	6	HESX1 (3), OTX2 (5), LHX3 (2), LHX4 (5), POU1F1 (6), PROP1 (7)	0.46154	0.66667	3.813e-19	7.289e-18	273
Digitotalar dysmorphism	Distal arthrogryposis	6	6	MYH3 (5), TPM2 (6), NALCN (2), TNNI2 (5), TNNT3 (5), MYBPC1 (5)	0.35294	1.00000	4.330e-19	8.262e-18	258
Ductus arteriosus, patent	Patent ductus arteriosus	6	6	AGTR1 (2), PRDM6 (4), TFAP2B (5), NPPA (2), TRAF1 (2), PTGIS (2)	0.35294	1.00000	4.330e-19	8.262e-18	
Congenital fiber type disproportion myopathy	Congenital myopathy	8	8	ACTA1 (7), RYR1 (4), MYH7 (5), TPM2 (6), TPM3 (6), ITGA7 (3), SELENON (5), HACD1 (6)	0.16327	0.72727	4.517e-19	8.611e-18	377
Major depressive disorder	Parkinson disease	142	65	CYP17A1 (1), KANSL1 (1), RERE (1), WWOX (1), GFAP (2), ATP1A3 (2), ADARB2 (3), ALCAM (1), APOE (1), CACNA2D3 (1), CAMK1D (1), CNTNAP2 (3)	0.06048	0.26843	5.085e-19	9.686e-18	2
Aortic dissection	Congenital aneurysm of ascending aorta	7	2	FBN1 (1), SMAD3 (2), FOXE3 (1), COL3A1 (1), TGFBR2 (2), LOX (1), SRFBP1 (1)	0.29167	0.58333	6.179e-19	1.176e-17	
Breast cancer	Gout	128	3	SIN3A (1), JMJD1C (1), RREB1 (1), NOTCH2 (1), PIK3R1 (1), CHEK2 (1), TPCN2 (1), ADGRL2 (1), BNC2 (1), CADM2 (1), CDKAL1 (1), CNTNAP2 (1)	0.07281	0.15629	6.484e-19	1.233e-17	
Hypotrichosis	Woolly hair	6	5	KRT25 (6), KRT71 (6), KRT74 (5), RB1 (1), LIPH (5), LPAR6 (6)	0.33333	1.00000	6.692e-19	1.270e-17	
C1 esterase inhibitor deficiency	Complement component deficiency	6	6	C2 (5), SERPING1 (5), C4B (5), C8B (4), C9 (4), C8A (4)	0.33333	1.00000	6.692e-19	1.270e-17	
Aplasia of the vermis	Nephronophthisis	11	7	CPLANE1 (1), CC2D2A (1), RPGRIP1L (2), NPHP3 (6), TMEM67 (4), NPHP1 (6), CEP290 (2), IFT172 (2), TTC21B (5), AHI1 (1), RLIG1 (1)	0.13095	0.27500	7.133e-19	1.353e-17	8
Nephrolithiasis	Ureterolithiasis	9	1	ALPL (1), BCAS3 (1), PDILT (1), ABCG2 (1), RGS14 (1), BCAS1 (1), CYP24A1 (2), KLK15 (1), RSPH14 (1)	0.07377	0.90000	7.765e-19	1.471e-17	180
Biliary cirrhosis	Systemic sclerosis	19	8	DDX6 (1), DGKQ (1), ELMO1 (1), HLA-DQA1 (2), HLA-DRA (1), HLA-DQB1 (2), ATG5 (1), HLA-DPB1 (1), CCR6 (2), IL12RB2 (1), IRF5 (2), NFKB1 (2)	0.07983	0.14844	7.773e-19	1.472e-17	
Intracellular cobalamin metabolism disorder	Methylmalonic acidemia	7	7	ZNF143 (3), MMACHC (3), MMADHC (6), ABCD4 (7), HCFC1 (5), LMBRD1 (7), THAP11 (5)	0.23333	0.77778	7.844e-19	1.484e-17	198
Anorexia nervosa	Cannabis abuse	23	2	ABT1 (1), BANK1 (1), CTNND1 (1), EPHX2 (1), FOXP1 (1), PDE4B (1), PTPRF (1), SEMA3F (1), SEMA6D (1), SLC39A8 (1), TCF20 (1), TENM2 (1)	0.06667	0.19828	8.171e-19	1.544e-17	
Color vision deficiency	Dementia	97	0	DMRT1 (1), AHCYL2 (1), ARHGAP24 (1), ASB3 (1), AUTS2 (1), CAMK1D (1), CCDC171 (1), CCDC33 (1), CD2AP (1), CDH4 (1), CELF4 (1), CLYBL (1)	0.06644	0.16441	8.194e-19	1.547e-17	2
Heterotaxy syndrome	Situs ambiguus	8	7	PKD1L1 (4), CIROP (3), CERS1 (1), GDF1 (2), DAND5 (3), MMP21 (4), CFAP53 (4), NODAL (5)	0.22222	0.38095	8.230e-19	1.553e-17	54
Digitotalar dysmorphism	Sheldon-hall syndrome	5	5	MYH3 (2), TPM2 (3), NALCN (2), TNNI2 (3), TNNT3 (3)	0.71429	1.00000	8.323e-19	1.569e-17	258
C3 glomerulonephritis	Hemolytic uremic syndrome	7	7	CFHR1 (5), CFI (6), C3 (6), CFB (6), CFH (6), CFHR5 (6), CFHR3 (4)	0.20000	0.87500	8.392e-19	1.581e-17	32
Gallstones	Intrahepatic cholestasis of pregnancy	11	3	SERPINA1 (1), ABCG8 (2), SHROOM3 (1), GCKR (1), ABCB1 (1), ATP8B1 (3), HNF4A (1), CYP7A1 (1), ABCB4 (3), UBXN2B (1), SULT2A1 (1)	0.08209	0.55000	9.281e-19	1.747e-17	
Dystonia	Torsion dystonia	7	7	THAP1 (6), EIF2AK2 (4), TOR1A (3), TUBB4A (5), CIZ1 (3), HPCA (5), SHQ1 (3)	0.15556	1.00000	9.423e-19	1.772e-17	172
Ichthyosis	Lamellar ichthyosis	7	5	TGM1 (2), ABCA12 (3), ALOX12B (3), ALOXE3 (3), CYP4F22 (3), PNPLA1 (1), CERS3 (1)	0.29167	0.50000	9.620e-19	1.807e-17	232
Junctional epidermolysis bullosa	Other epidermolysis bullosa	6	6	PLEC (3), COL17A1 (7), LAMB3 (6), LAMC2 (6), ITGB4 (6), ITGA6 (6)	0.31579	1.00000	1.004e-18	1.884e-17	229
Craniodiaphyseal dysplasia	Short rib dysplasia-polydactyly syndrome	7	6	IFT43 (5), IFT122 (7), IFT140 (3), IFT52 (3), WDR19 (6), WDR35 (6), CILK1 (1)	0.25000	0.70000	1.018e-18	1.910e-17	19
Psoriatic arthritis	Sarcoidosis	17	6	HLA-C (2), HLA-DQA1 (1), TNXB (1), TAP2 (1), TNF (2), HLA-DQB1 (2), C1orf141 (1), HLA-B (2), IL23R (2), TYK2 (1), NOTCH4 (1), CCR2 (1)	0.07727	0.23288	1.194e-18	2.238e-17	
Hypersensitivity	Uveitis	11	11	HLA-DRB1 (2), IL10 (2), IL1B (2), TNF (2), IL6 (2), ALB (2), TGFB1 (2), HLA-B (3), TNFRSF1A (2), CCR2 (2), IL13 (2)	0.11828	0.33333	1.346e-18	2.520e-17	46
Thromboembolism	Thrombosis	8	0	PLAU (1), F2 (1), PLAT (1), F5 (1), GAS6 (1), PROC (1), PROS1 (1), MERTK (1)	0.16000	0.66667	1.352e-18	2.530e-17	36
Alzheimer disease	Parkinson disease	153	52	KANSL1 (1), RERE (1), INS (2), WWOX (2), SCARB2 (1), ADARB2 (3), AGAP1 (1), ALCAM (1), ALDH1A2 (3), APOE (6), ARHGEF2 (1), BCKDK (1)	0.05896	0.28922	1.374e-18	2.568e-17	2
Frontotemporal dementia with motor neuron disease	Frontotemporal dementia with or without amyotrophic lateral sclerosis	6	6	VCP (7), GRN (2), SQSTM1 (7), C9orf72 (6), CHCHD10 (7), TBK1 (7)	0.40000	0.75000	1.398e-18	2.611e-17	119
Thrombocytopenia	Thrombosis	14	14	FGA (2), EPO (2), TNF (2), PLAT (2), FCGR2A (2), SERPINC1 (2), PF4 (2), PROS1 (2), P2RY12 (2), THBD (2), VWF (2), GP1BA (2)	0.08187	0.31111	1.607e-18	2.999e-17	36
Brain infarction	Lewy body disease	12	0	APOE (1), CDKAL1 (1), KAZN (1), PTPRD (1), SGK1 (1), HS3ST4 (1), ATP10A (1), POLD3 (1), ABTB2 (1), KCNB2 (1), RAG1 (1), SLC29A4 (1)	0.10000	0.33333	1.643e-18	3.064e-17	
Glioma	Obesity	130	23	RAI1 (3), AKAP6 (1), ARHGAP24 (1), ARHGEF28 (1), C6orf118 (1), CARD11 (1), CCDC33 (1), CDH4 (1), CDKAL1 (2), CSMD1 (1), CTNNA3 (1), DCC (1)	0.07131	0.17150	1.672e-18	3.115e-17	
Age-related macular degeneration	Macular and posterior pole degeneration	9	6	CFI (4), C3 (3), CETP (1), CFH (3), RDH5 (1), ARMS2 (3), C9 (3), SKIC2 (1), HTRA1 (2)	0.10227	0.69231	1.726e-18	3.214e-17	
autosomal dominant polycystic kidney disease	Polycystic kidney disease	7	7	ALG8 (3), DNAJB11 (7), PKD1 (8), PKD2 (8), IFT140 (5), ALG5 (7), NEK8 (7)	0.14286	1.00000	1.811e-18	3.367e-17	
Cushing syndrome	Hyperaldosteronism	8	8	CYP11B2 (3), CACNA1D (2), CACNA1H (5), KCNJ5 (6), ATP2B3 (2), ATP1A1 (2), CLCN2 (6), CYP11B1 (4)	0.21053	0.38095	1.890e-18	3.512e-17	296
Bardet-biedl syndrome	Joubert syndrome	12	7	KIF7 (1), NPHP4 (1), RPGRIP1 (1), RPGRIP1L (5), NPHP3 (1), TMEM67 (6), NPHP1 (7), CEP290 (6), TTC21B (2), IFT74 (6), MKS1 (7), RLIG1 (1)	0.11321	0.20690	2.374e-18	4.407e-17	8
Cone dystrophy	Night blindness, congenital stationary	9	5	ABCA4 (1), CACNA1F (3), PDE6B (3), USH2A (1), GUCY2D (4), CABP4 (1), RHO (3), RPGR (1), SAG (2)	0.16364	0.36000	2.423e-18	4.494e-17	
Gallstones	Hyperlipidemia	19	5	ABCA1 (1), ABCG8 (3), APOE (3), FADS1 (1), FADS2 (1), MLXIPL (1), VEGFA (1), HMGCR (2), ABO (1), ZPR1 (1), GCKR (1), ABCB1 (2)	0.07692	0.15323	2.753e-18	5.103e-17	
Female infertility	Oocyte maturation defect	11	11	TRIP13 (4), PANX1 (4), ZFP36L2 (5), BTG4 (4), PATL2 (5), TLE6 (4), TUBB8 (6), WEE2 (4), ZP1 (6), ZP2 (6), ZP3 (6)	0.09322	0.44000	2.858e-18	5.293e-17	
Megacystis microcolon intestinal hypoperistalsis syndrome	Visceral myopathy	5	5	MYH11 (5), MYLK (6), LMOD1 (5), ACTG2 (6), MYL9 (4)	0.62500	1.00000	2.913e-18	5.372e-17	426
Disseminated superficial actinic porokeratosis	Porokeratosis	5	5	MVK (6), FDPS (7), SART3 (2), MVD (6), SLC17A9 (6)	0.62500	1.00000	2.913e-18	5.372e-17	
Childhood ataxia with cns hypomyelination	Congenital or early infantile cach syndrome	5	5	EIF2B3 (2), EIF2B1 (2), EIF2B2 (2), EIF2B4 (2), EIF2B5 (2)	0.62500	1.00000	2.913e-18	5.372e-17	174
Childhood ataxia with cns hypomyelination	Cree leukoencephalopathy	5	5	EIF2B3 (2), EIF2B1 (2), EIF2B2 (2), EIF2B4 (2), EIF2B5 (2)	0.62500	1.00000	2.913e-18	5.372e-17	174
Childhood ataxia with cns hypomyelination	Vanishing white matter disease	5	5	EIF2B3 (2), EIF2B1 (3), EIF2B2 (3), EIF2B4 (3), EIF2B5 (3)	0.62500	1.00000	2.913e-18	5.372e-17	174
Macular degeneration	Retinopathy	12	7	ABCA4 (3), CFI (3), C2 (3), C3 (3), CD46 (1), PDGFB (1), RPL3 (1), CETP (1), CFH (3), RDH5 (1), ARMS2 (3), RPGR (3)	0.11111	0.23077	2.936e-18	5.410e-17	238
Dentinogenesis imperfecta	Hypomaturation amelogenesis imperfecta	6	6	SLC24A4 (2), AMELX (2), KLK4 (2), MMP20 (2), ODAPH (2), WDR72 (2)	0.33333	0.85714	3.029e-18	5.573e-17	390
Congenital muscular dystrophy due to dystroglycanopathy	Walker-warburg syndrome	6	6	GMPPB (2), LARGE1 (3), CRPPA (3), POMGNT1 (3), FKRP (3), B3GALNT2 (3)	0.33333	0.85714	3.029e-18	5.573e-17	40
Platelet disorder	Platelet-type bleeding disorder	7	7	ITGB3 (5), TPM4 (4), TBXA2R (5), FLI1 (5), GP6 (7), EPHB2 (5), CD36 (3)	0.25926	0.53846	3.257e-18	5.986e-17	67
Depression	Psychotic disorders	24	5	CD34 (1), NPAS3 (1), PCNT (1), BDNF (2), MAOA (1), AVP (2), HTR1B (2), TGFB1 (1), CACNA1C (1), CRHR1 (1), CSF2RB (1), NR3C1 (2)	0.06299	0.19200	3.659e-18	6.720e-17	
Brain ischemia	Hypersensitivity	13	13	IL1B (2), MTHFR (2), TNF (2), IL6 (2), ALB (2), CCL2 (2), IL17A (2), TNFRSF1A (2), TNFRSF1B (2), IL18 (2), CCL11 (2), CCL3 (2)	0.10156	0.18571	4.234e-18	7.770e-17	
Cholecystolithiasis	Intrahepatic cholestasis of pregnancy	11	3	SERPINA1 (1), ABCG8 (2), SHROOM3 (1), GCKR (1), ABCB1 (1), ATP8B1 (3), HNF4A (1), CYP7A1 (1), ABCB4 (3), UBXN2B (1), SULT2A1 (1)	0.07237	0.55000	4.332e-18	7.942e-17	
Bipolar disorder	Parkinson disease	103	53	RERE (1), INS (2), WWOX (1), GFAP (2), ATP1A3 (2), APOE (2), CACNA2D3 (1), CAMK1D (1), CNTNAP2 (3), DLG2 (2), ESR2 (2), FSTL5 (3)	0.06254	0.19471	4.429e-18	8.113e-17	2
Chromosome y microdeletion syndrome	Spermatogenic failure, y-linked	6	6	DDX3Y (5), DAZ1 (4), DAZ2 (4), DAZ3 (4), RBMY1A1 (4), USP9Y (5)	0.35294	0.75000	4.543e-18	8.315e-17	
Complement component deficiency	Terminal complement component deficiency	6	6	C8B (4), C5 (5), C9 (4), C8A (4), C6 (5), C7 (5)	0.31579	0.85714	4.681e-18	8.555e-17	
Dentin dysplasia	Hypomaturation amelogenesis imperfecta	6	6	SLC24A4 (2), AMELX (2), KLK4 (2), MMP20 (2), ODAPH (2), WDR72 (2)	0.31579	0.85714	4.681e-18	8.555e-17	390
Glaucoma	Macular degeneration	18	9	CFI (3), APOE (3), HERC2 (1), C2 (3), C3 (3), PON1 (1), RAD51B (1), CFB (3), CETP (1), CFH (3), HERPUD1 (1), ARMS2 (3)	0.06338	0.26866	4.686e-18	8.556e-17	
Majewski syndrome	Short-rib thoracic dysplasia	7	7	NEK1 (4), IFT80 (2), DYNC2H1 (2), DYNC2LI1 (4), IFT172 (4), TTC21B (2), WDR35 (5)	0.24138	0.58333	4.753e-18	8.671e-17	19
Psychiatric disorders	Tourette syndrome	29	1	CAMTA1 (1), DCC (1), LSAMP (1), PTPRF (1), RIMS1 (1), SORCS3 (1), TCF4 (1), THSD7A (1), TMEM106B (1), DRD2 (1), ANKS1B (1), CACNA1C (2)	0.06459	0.13242	4.823e-18	8.792e-17	75
Esophageal neoplasms	Non-small-cell lung carcinoma	16	0	TP53 (1), CDH13 (1), EGFR (1), GRIK2 (1), MACIR (1), ENO1 (1), SOD2 (1), UCHL1 (1), TRMT11 (1), CSF3 (1), ABCB1 (1), MET (1)	0.07960	0.21622	4.921e-18	8.963e-17	4
Thrombocythemia	Thrombocytosis	5	5	SH2B3 (4), MPL (7), THPO (7), JAK2 (6), CALR (4)	0.62500	0.83333	4.994e-18	9.088e-17	98
Atopic dermatitis	Obstructive airway disease	14	4	GSTP1 (1), GSTT1 (1), IL1B (2), MBL2 (1), TLR4 (1), TNF (1), IL6 (2), GSTM1 (1), VDR (1), TGFB1 (1), CTLA4 (1), CYP1A1 (2)	0.09150	0.21212	5.424e-18	9.863e-17	
Autoimmune hepatitis	Hashimoto disease	9	5	SH2B3 (1), C1S (2), HLA-DQA1 (1), HLA-DRB1 (2), ICOS (1), ATXN2 (1), IL6 (2), CTLA4 (3), STAT4 (2)	0.15789	0.33333	5.539e-18	1.006e-16	
Developmental and epileptic encephalopathy	Developmental disability	23	22	UBE3A (1), PTEN (2), GRIN2B (4), KCNQ2 (7), NTRK2 (6), SCN8A (7), CHRNA4 (2), ARHGEF9 (4), CASK (3), MECP2 (2), PPP3CA (6), SLC2A1 (2)	0.06745	0.16084	5.707e-18	1.036e-16	6
Behcet disease	Giant cell arteritis	10	4	HLA-DRB1 (2), IL4 (1), MBL2 (1), TLR4 (2), CCL2 (1), HLA-B (4), PTPN22 (2), FCGR3A (1), IL18 (1), IL21R (1)	0.08772	0.55556	5.862e-18	1.063e-16	46
Congenital cartilage disorder	Epiphyseal dysplasia	7	7	SLC26A2 (3), COL2A1 (3), COMP (3), COL9A1 (5), COL9A2 (5), COL9A3 (5), MATN3 (3)	0.20588	0.70000	5.984e-18	1.084e-16	
Autoimmune thyroid disease	Oligoarticular juvenile idiopathic arthritis	21	14	RERE (2), ANKRD55 (2), HLA-DQA1 (2), HLA-DRB1 (1), ATXN2 (1), HLA-DQB1 (2), IRF1 (1), SMAD3 (2), ADCY7 (2), CTLA4 (2), IL2RA (3), PHTF1 (1)	0.07143	0.14583	6.354e-18	1.151e-16	
Nephrotic syndrome	Proteinuria	14	14	AGT (2), HLA-DQA1 (2), HLA-DRB1 (3), NCK2 (2), REN (2), SOD1 (2), ALB (2), TGFB1 (2), IL1RN (2), MUC16 (2), LMX1B (2), NCK1 (2)	0.07179	0.33333	6.687e-18	1.210e-16	20
Lymphocytic leukemia	Non-hodgkins lymphoma	18	0	TERT (1), GRAMD1B (1), HLA-DQA1 (1), HLA-DRB1 (1), RHOU (1), BCL2 (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (1), EOMES (1), SP140 (1), IRF8 (1)	0.07725	0.15652	6.798e-18	1.229e-16	
Lymphoid leukemia	Multiple myeloma	12	1	GRAMD1B (1), GRIP1 (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (2), SP140 (1), IRF8 (1), ACOXL (1), MYNN (1), ACTRT3 (1), BMF (1), SP140L (1)	0.07500	0.42857	6.897e-18	1.246e-16	89
Intellectual disability	Nonsyndromic intellectual disability	16	14	CRBN (3), GRIN2B (2), KDM5B (4), SCN8A (2), ST3GAL3 (2), TCF4 (3), TUSC3 (3), ZC3H14 (4), ZNF292 (1), JARID2 (1), RAB11A (2), STXBP1 (2)	0.07921	0.21053	6.948e-18	1.254e-16	6
Generalized lipodystrophy	Lipodystrophy	6	6	PPARG (4), CAV1 (5), BSCL2 (5), CAVIN1 (5), AGPAT2 (5), PCYT1A (3)	0.30000	0.85714	7.022e-18	1.266e-16	79
Arima syndrome	Joubert syndrome	7	7	ZNF423 (3), CC2D2A (5), CEP290 (6), TMEM138 (6), TMEM216 (6), TMEM231 (5), TMEM237 (6)	0.11864	1.00000	7.394e-18	1.332e-16	8
Cerebrovascular disorder	Thrombosis	12	12	FGA (2), AGT (2), PLAU (2), F2 (2), TNF (2), PLAT (2), PTGS2 (2), PDE3A (2), F5 (2), CRP (2), VKORC1 (2), P2RY12 (2)	0.10169	0.26667	7.628e-18	1.373e-16	
Angioedema	Urticaria	11	1	BANK1 (1), HLA-DRB1 (1), RIMS1 (1), HLA-DQB1 (1), ALB (1), RAD51B (1), ABI3BP (1), HLA-DPB1 (1), HLF (1), IFT43 (1), F12 (3)	0.11828	0.23913	7.764e-18	1.397e-16	
Beta thalassemia	Sickle cell anemia	8	6	BCL11A (2), GSTT1 (1), TNF (2), HLA-DQB1 (1), HBB (8), CAD (2), UMPS (2), DHODH (2)	0.19048	0.38095	7.964e-18	1.431e-16	
Hypertension	Osteoarthritis	122	37	HMGA2 (1), TBX4 (1), CYP11B2 (2), PIK3R1 (1), ADK (1), AMPD3 (1), ALDH1A2 (2), APOC1 (1), APOE (3), ARL17B (1), BANK1 (1), BCAS3 (1)	0.06940	0.16712	8.160e-18	1.466e-16	
Ischemic heart disease	Large artery stroke	17	17	SH2B3 (2), ABCG8 (2), JCAD (2), MMP12 (2), MMP3 (2), WDR12 (2), TWIST1 (2), ABO (2), CELSR2 (2), PSRC1 (2), FURIN (2), PHACTR1 (2)	0.07328	0.21795	8.365e-18	1.501e-16	73
Glomerulonephritis	Hypersensitivity	14	14	HLA-DQA1 (2), IL10 (2), IL1B (2), MTHFR (2), TNF (2), IL6 (2), ALB (2), IFNG (2), CCL2 (2), CXCR3 (2), IL18 (2), CCL3 (2)	0.09091	0.20000	8.479e-18	1.520e-16	46
Bipolar depression	Psychotic disorders	17	9	ANK3 (1), GCH1 (1), BDNF (2), MAOA (1), NTRK1 (2), CACNA1C (1), TENM4 (1), TRPM2 (1), NR3C1 (2), TPH2 (1), GRIK4 (1), HTR2A (2)	0.07944	0.16190	8.502e-18	1.523e-16	
Liver neoplasms	Non-small-cell lung carcinoma	20	0	TERT (1), TP53 (1), GRIK2 (1), MACIR (1), NFE2L2 (1), STAT3 (1), PHGDH (1), XPC (1), FHIT (1), TRMT11 (1), CSF3 (1), KRAS (1)	0.07273	0.14085	8.693e-18	1.556e-16	4
Ciliary dyskinesia	Polynesian bronchiectasis	8	8	DNAH5 (7), CCDC40 (6), DNAH11 (7), DNAI1 (5), DNAAF3 (6), DNAAF19 (7), DNAAF4 (7), DRC1 (6)	0.08696	0.88889	8.875e-18	1.586e-16	9
Ciliary dyskinesia	primary ciliary dyskinesia	8	8	SPEF2 (4), DNAH10 (3), CFAP221 (4), CFAP43 (2), DNAH7 (5), CFAP57 (3), DNAH1 (6), DAW1 (6)	0.08696	0.88889	8.875e-18	1.586e-16	
Deep vein thrombosis	Thrombophilia	7	6	FGA (3), PLAT (3), PLG (1), PROC (5), PROS1 (5), FGB (2), SERPIND1 (2)	0.19444	0.70000	9.890e-18	1.766e-16	
Epiphyseal dysplasia	Osteochondrodysplasias	7	7	SLC26A2 (3), COL2A1 (3), COMP (3), COL9A1 (5), COL9A2 (5), COL9A3 (5), MATN3 (3)	0.18919	0.70000	1.255e-17	2.240e-16	
Diabetes mellitus type 1	Iga nephropathy	36	12	NOTCH2 (2), ACE (1), AFF3 (1), ANKRD55 (1), ASAP1 (1), ETS1 (2), HLA-DQA1 (3), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (3), IKZF1 (1), INPP5B (1)	0.05581	0.17734	1.291e-17	2.302e-16	
Atrial septal defect	Congenital heart septal defect	8	5	GATA4 (6), ROBO1 (1), MYH6 (6), NKX2-5 (6), HSPBAP1 (1), PARP14 (1), CITED2 (6), PQBP1 (2)	0.17391	0.44444	1.296e-17	2.309e-16	41
Complete unilateral cleft lip	Orofacial cleft	13	9	ABCA4 (2), TP63 (4), FGF10 (1), IRF6 (4), MTHFR (1), BMP4 (5), NOG (2), MSX1 (4), FGFR1 (1), CDH1 (2), MAFB (2), SUMO1 (5)	0.07222	0.36111	1.348e-17	2.400e-16	136
Interstitial lung disease	Pulmonary fibrosis	14	8	RTEL1 (1), TERT (4), ARL17B (1), DSP (3), MUC5B (4), IL1RN (2), MUC5AC (1), SFTPC (4), SPDL1 (1), FAM13A (3), LRRC34 (1), SFTPA1 (5)	0.08750	0.21212	1.460e-17	2.597e-16	
Hereditary spastic paraplegia	Spastic ataxia	14	4	SETX (1), SPG11 (1), PNPLA6 (2), CYP7B1 (2), KIF1C (4), SACS (3), SPG7 (1), SPAST (1), KIF1A (1), AMPD2 (1), FA2H (1), C19orf12 (1)	0.08861	0.20000	1.534e-17	2.727e-16	
Biliary cirrhosis	Sjogren syndrome	15	7	DGKQ (3), HLA-DQA1 (2), HLA-DRA (1), ATXN2 (1), HLA-DQB1 (2), ATG5 (1), HLA-DPB1 (1), CTLA4 (2), IRF5 (1), STAT4 (3), TNPO3 (1), CXCR5 (2)	0.08108	0.21127	1.666e-17	2.959e-16	
Lymphatic metastasis	Non-small-cell lung carcinoma	12	0	GRIK2 (1), MACIR (1), SOD2 (1), STAT3 (1), TRMT11 (1), MET (1), CDKN2A (1), CCNH (1), MTOR (1), TP53BP1 (1), LRRC59 (1), SLC22A10 (1)	0.07453	0.40000	1.770e-17	3.141e-16	4
Restrictive cardiomyopathy	Wolff-parkinson-white syndrome	9	2	PRDM16 (1), DSP (1), CACNA1C (1), MYH6 (1), FLNC (3), MYH7 (1), TTN (1), ACTC1 (1), TNNT2 (3)	0.13636	0.39130	1.795e-17	3.183e-16	3
Carcinoma	Pancreatic neoplasms	19	2	PTEN (1), TP53 (1), TP63 (2), BCL2L1 (1), EGFR (1), EPCAM (1), SOD2 (1), STAT3 (1), EFEMP1 (1), PTGS2 (1), HIF1A (1), TGFB1 (1)	0.07197	0.16239	1.821e-17	3.226e-16	4
Peripheral arterial disease	Peripheral vascular disease	13	1	HDAC9 (1), NFAT5 (1), TCF7L2 (1), ATXN2 (1), CHRNA3 (1), TWIST1 (1), ABO (1), CELSR2 (1), DAB2IP (2), LPA (1), F5 (1), EDNRA (1)	0.06566	0.39394	1.839e-17	3.256e-16	
Migraine	Myocardial infarction	56	17	PRDM16 (3), SKI (1), RUNX1 (1), SERPINA1 (1), C1GALT1 (1), CDH13 (1), FBN2 (1), HEYL (1), ICA1L (1), INPP5B (1), JCAD (1), KCNE2 (1)	0.06028	0.13861	1.855e-17	3.281e-16	34
Substance abuse	Willis-ekbom disease	36	4	ALCAM (1), CAMTA1 (1), CCKBR (2), CNTNAP5 (1), CRBN (1), CTNNA3 (1), DAB1 (1), GRIA1 (2), IGSF11 (1), KDM4B (1), LINGO2 (1), LSAMP (1)	0.05357	0.18848	2.057e-17	3.636e-16	2
Cleft lip	Orofacial cleft	13	12	ABCA4 (3), TP63 (5), FGF10 (2), IRF6 (4), MTHFR (2), BMP4 (5), NOG (2), MSX1 (4), FGFR1 (2), CDH1 (2), MAFB (3), SUMO1 (5)	0.07182	0.35135	2.061e-17	3.639e-16	136
Dry eye syndrome	Sjogren syndrome	12	0	TWIST2 (1), DCHS2 (1), NAV2 (1), NMT1 (1), THSD7A (1), PPP2R2B (1), IL6 (1), KCNB2 (1), CCNG1 (1), SDC2 (1), C1QL1 (1), FAM241B (1)	0.10256	0.21053	2.090e-17	3.688e-16	22
Graves disease	Psoriatic arthritis	14	12	IFIH1 (3), HLA-DQA1 (2), TNF (2), HLA-DQB1 (2), CYP1A1 (1), HLA-B (2), IL17A (2), IL23R (2), MUC22 (1), PTPN22 (3), STAT4 (2), FBXL19 (3)	0.08805	0.19178	2.155e-17	3.800e-16	
Cor pulmonale	Thromboembolic pulmonary hypertension	6	0	FGA (1), ABO (1), SLC44A2 (1), FGG (1), F11 (1), TSPAN15 (1)	0.31579	0.66667	2.270e-17	3.999e-16	156
Gonadal dysgenesis	Ovarian dysgenesis	7	7	BMP15 (5), FSHR (4), MRPS22 (4), NUP107 (4), PSMC3IP (4), SPIDR (4), ZSWIM7 (4)	0.20588	0.58333	2.292e-17	4.035e-16	149
Combined oxidative phosphorylation deficiency	Leigh syndrome	14	14	MTRFR (7), NARS2 (6), PNPT1 (7), EARS2 (4), FARS2 (7), AIFM1 (5), TSFM (4), MTFMT (6), TARS2 (6), GTPBP3 (7), GFM2 (6), GFM1 (5)	0.08642	0.20588	2.298e-17	4.042e-16	62
Cardiofaciocutaneous syndrome	Leopard syndrome	6	6	BRAF (8), NRAS (2), RAF1 (5), PTPN11 (6), MAP2K1 (7), MAP2K2 (8)	0.33333	0.54545	2.304e-17	4.044e-16	49
Megaloblastic anemia	Vitamin b12 deficiency	6	3	FUT2 (1), TCN2 (3), CUBN (2), TCN1 (2), MMAA (1), OOSP3 (1)	0.33333	0.54545	2.304e-17	4.044e-16	100
Atrophic macular degeneration	Macular and posterior pole degeneration	8	0	CFI (1), C3 (1), CETP (1), CFH (1), RDH5 (1), ARMS2 (1), C9 (1), SKIC2 (1)	0.12903	0.61538	2.305e-17	4.044e-16	
Anorexia nervosa	Psychiatric disorders	28	1	DCC (1), ERBB4 (1), NALF1 (1), PTPRF (1), RIMS1 (1), SORCS3 (1), TCF4 (1), THSD7A (1), TMEM106B (1), ZZEF1 (1), DRD2 (1), ANKS1B (1)	0.06321	0.12785	2.307e-17	4.045e-16	75
Cerebellar atrophy	Dysarthria	8	0	CACNA1A (1), PNPLA6 (1), HARS1 (1), DNMT1 (1), SMC1A (1), TBC1D24 (1), BIVM-ERCC5 (1), ERCC5 (1)	0.17778	0.36364	2.350e-17	4.117e-16	241
Cleft lip and palate	Orofacial cleft	10	8	TP63 (4), IRF6 (4), BMP4 (5), MSX1 (4), CDH1 (2), AMOTL1 (3), DLG1 (1), ARHGAP29 (3), NECTIN1 (1), DLX4 (5)	0.06173	0.66667	2.447e-17	4.284e-16	136
Panhypopituitarism	Pituitary hormone deficiency	7	5	HESX1 (1), OTX2 (3), LHX3 (2), LHX4 (3), POU1F1 (4), PROP1 (5), ACBD6 (1)	0.15217	0.77778	2.841e-17	4.969e-16	
Hypotension	Seizures	15	0	INS (1), CAT (1), ADRA1B (1), AGT (1), CRH (1), IL1B (1), IL6 (1), PDYN (1), POMC (1), ADORA2A (1), DRD1 (1), DRD2 (1)	0.07732	0.22388	2.876e-17	5.026e-16	
Congenital neurologic anomalies	Lissencephaly	13	2	FOXG1 (1), DYNC1H1 (1), CASK (1), TMEM216 (1), ASPM (1), POMT1 (1), POMGNT1 (1), TSPAN1 (1), AMPD2 (1), ACTG1 (1), TUBA1A (5), DCX (6)	0.08497	0.26000	3.156e-17	5.507e-16	
complex neurodevelopmental disorder	Developmental disability	18	18	CHD8 (2), GRIN2B (2), KCNQ2 (3), NBEA (2), SCN8A (2), TLK2 (2), GNAI1 (2), SETBP1 (2), ZMIZ1 (2), NR4A2 (2), RFX3 (2), SCN2A (2)	0.07377	0.15254	3.156e-17	5.507e-16	6
monogenic diabetes	Permanent neonatal diabetes mellitus	6	6	INS (6), ABCC8 (6), KCNJ11 (6), GCK (7), PDX1 (5), NEUROD1 (2)	0.31579	0.60000	3.404e-17	5.935e-16	35
Carbohydrate metabolism disease	Carbohydrate metabolism disorder	5	1	TPI1 (1), ACAT1 (1), MPI (1), PRKAG3 (2), TALDO1 (1)	0.45455	1.00000	3.496e-17	6.090e-16	371
Congenital ichthyosiform erythroderma	Ichthyosis	6	6	TGM1 (2), ABCA12 (2), ALOX12B (2), ALOXE3 (2), PNPLA1 (2), CERS3 (2)	0.30000	0.66667	3.631e-17	6.321e-16	232
Major depressive disorder	Oligodendroglioma	143	26	SOX5 (1), WWOX (1), ALCAM (1), ANK3 (1), C6orf118 (1), CAMK1D (1), CDH13 (2), CHRM3 (1), CNTNAP2 (2), DCC (1), DCHS2 (1), DGKB (2)	0.06016	0.25581	3.730e-17	6.487e-16	2
Obsessive-compulsive disorder	Psychiatric disorders	27	2	RAI1 (2), C6orf118 (1), CAMTA1 (1), DCC (1), KLC1 (1), LSAMP (1), PTPRF (1), RIMS1 (1), SORCS3 (1), TCF4 (1), DRD2 (1), ANKS1B (1)	0.06323	0.12329	3.750e-17	6.518e-16	75
Hyperalgesia	Pulmonary fibrosis	15	15	AGT (2), IGF1 (2), IL1A (2), IL1B (2), TNF (2), IL6 (2), HMGB1 (2), PTGS2 (2), MECP2 (2), CXCL8 (2), CCL2 (2), IL1RN (2)	0.08242	0.16854	3.851e-17	6.688e-16	
Polycythemia	Secondary polycythemia	6	6	HBA1 (3), EPO (4), HBB (3), EPAS1 (3), VHL (2), EGLN1 (3)	0.27273	0.75000	4.102e-17	7.118e-16	24
Costello syndrome	Leopard syndrome	6	6	BRAF (6), NRAS (3), RAF1 (5), PTPN11 (6), MAP2K1 (3), MAP2K2 (2)	0.31579	0.54545	4.278e-17	7.418e-16	49
non-syndromic X-linked intellectual disability	X-linked intellectual disability	7	7	GDI1 (4), HUWE1 (2), ACSL4 (3), DLG3 (4), SYP (4), AFF2 (2), TSPAN7 (3)	0.09333	1.00000	4.425e-17	7.667e-16	
Cannabis abuse	Post-traumatic stress disorder	20	1	ABT1 (1), CTTNBP2 (1), FOXP1 (1), FOXP2 (1), HMGN4 (1), PDE4B (1), SEMA3F (1), SLC39A8 (1), ZBTB20 (1), ZNF184 (1), ZNF804A (1), BDNF (2)	0.06667	0.17241	4.549e-17	7.875e-16	2
Benign myoclonic epilepsy	Familial adult myoclonic epilepsy	5	5	ADRA2B (2), CNTN2 (3), MARCHF6 (4), SAMD12 (4), YEATS2 (4)	0.50000	0.83333	4.660e-17	8.061e-16	284
Brain ischemia	Cholelithiasis	15	15	CAT (2), MPO (2), ICAM1 (2), IGF1 (2), IL1B (2), TNF (2), IL6 (2), RELA (2), EGR1 (2), MAPK1 (2), ALB (2), MMP9 (2)	0.07692	0.21429	4.710e-17	8.141e-16	
Glioma	Major depressive disorder	178	55	PAFAH1B1 (1), CAT (3), TERT (3), DOCK6 (1), AKAP6 (1), ANK3 (1), ANO4 (1), BRAF (2), C6orf118 (1), CACNA2D3 (1), CARD11 (1), CDH19 (1)	0.07005	0.23483	4.955e-17	8.558e-16	
Polymorphic catecholaminergic ventricular tachycardia	Wolff-parkinson-white syndrome	8	2	KCNJ2 (1), CACNA1C (1), CASQ2 (2), RYR2 (2), SCN5A (1), MYBPC3 (1), TTN (1), ANK2 (1)	0.13559	0.53333	5.147e-17	8.883e-16	3
Hereditary chronic pancreatitis	Pancreatitis	7	7	CFTR (4), CPA1 (3), CTRC (4), PRSS1 (6), PRSS2 (3), TRPV6 (3), SPINK1 (5)	0.11864	0.87500	5.186e-17	8.943e-16	210
Conduction disorder of the heart	Polymorphic catecholaminergic ventricular tachycardia	7	2	PKP2 (1), CACNA1C (1), CASQ2 (2), RYR2 (2), SCN5A (1), TTN (1), ANK2 (1)	0.21212	0.46667	5.435e-17	9.364e-16	3
Neonatal diabetes mellitus	Transient neonatal diabetes mellitus	6	6	INS (2), GATA4 (2), ABCC8 (6), KCNJ11 (5), GCK (2), SLC2A2 (2)	0.28571	0.66667	5.611e-17	9.660e-16	35
Carcinoma	Esophageal neoplasms	16	0	ACTB (1), TP53 (1), EGFR (1), BCL2 (1), ENO1 (1), SOD2 (1), PTGS2 (1), CSF3 (1), ABCB1 (1), TGFBR2 (1), PTGS1 (1), MET (1)	0.07143	0.21622	5.680e-17	9.771e-16	4
Seizures	Status epilepticus	15	15	CAT (2), SCN8A (5), BDNF (2), CRH (2), NOS1 (2), NGF (2), FOS (2), PTGS2 (2), NOS2 (2), SLC8A1 (2), CNR1 (2), ABCC2 (2)	0.07614	0.21429	5.863e-17	1.008e-15	
Chronic obstructive pulmonary disease	Pulmonary fibrosis	12	12	SERPINA1 (2), HMOX1 (2), TNF (2), IL6 (2), DSP (3), ELN (2), TGFB1 (2), MMP9 (2), CXCL8 (2), CXCL2 (2), FAM13A (2), SOD3 (2)	0.08696	0.28571	6.252e-17	1.074e-15	133
Congenital short qt syndrome	Short qt syndrome	5	5	KCNJ2 (6), KCNH2 (6), KCNQ1 (7), CACNA2D1 (3), SLC4A3 (6)	0.41667	1.00000	6.409e-17	1.099e-15	
Leopard syndrome	noonan syndrome with multiple lentigines	5	5	BRAF (6), NRAS (2), RAF1 (5), PTPN11 (6), MAP2K1 (2)	0.41667	1.00000	6.409e-17	1.099e-15	49
Giant cell arteritis	Lupus nephritis	8	4	HLA-DRB1 (2), MBL2 (1), IFNG (2), FCGR2A (1), MMP9 (2), CCL2 (1), FCGR3A (1), MMP2 (2)	0.15094	0.44444	6.473e-17	1.109e-15	
Barrett esophagus	Esophageal disease	10	0	CRTC1 (1), MVB12B (1), PBX3 (1), SLC39A8 (1), ATXN2 (1), RPGRIP1L (1), NT5C2 (1), HMCN2 (1), AKTIP (1), KLHL26 (1)	0.10753	0.33333	7.271e-17	1.245e-15	
Anophthalmia/microphthalmia-esophageal atresia syndrome	Colobomatous microphthalmia	7	7	SOX2 (3), STRA6 (2), SIX6 (3), OTX2 (3), PORCN (2), RAX (3), VSX2 (2)	0.20588	0.46667	7.545e-17	1.291e-15	52
Differentiated thyroid carcinoma	Thyroid carcinoma	7	1	TRMO (1), NRG1 (1), VAV3 (1), SEPTIN11 (1), NDUFA13 (2), PCNX2 (1), SOWAHB (1)	0.13462	0.77778	7.568e-17	1.294e-15	
Congenital cataract	Posterior polar cataract	7	7	PITX3 (4), EPHA2 (2), CHMP4B (4), CRYAB (3), MIP (2), CRYBA1 (4), GJA3 (3)	0.11290	0.87500	7.575e-17	1.294e-15	51
Atherosclerosis	Vascular disease	13	7	AGT (2), HDAC9 (3), TCF7L2 (1), MTHFR (2), SOD2 (2), TNF (2), ATXN2 (1), CHRNA3 (1), TWIST1 (1), LPA (2), AHR (2), CHRNA5 (1)	0.08176	0.25000	8.833e-17	1.508e-15	
Cholelithiasis	Hepatomegaly	14	14	CYP1A2 (2), NOS3 (2), NFE2L2 (2), RELA (2), ALB (2), TGFB1 (2), KEAP1 (2), NOS2 (2), ABCC3 (2), NR1H4 (4), MAPK14 (2), CYGB (2)	0.07609	0.24138	8.849e-17	1.509e-15	
Nasal disorder	Seasonal allergic rhinitis	10	0	EMSY (1), SMAD3 (1), CLEC16A (1), IL18R1 (1), IL7R (1), IKZF3 (1), IL1RL1 (1), RANBP6 (1), SPEF2 (1), WDR36 (1)	0.08772	0.43478	8.975e-17	1.530e-15	103
Esophageal neoplasms	Lymphatic metastasis	10	0	GRIK2 (1), MACIR (1), SOD2 (1), TRMT11 (1), MET (1), ERBB2 (1), AQP3 (1), CDKN2A (1), CCNH (1), SFN (1)	0.10526	0.33333	9.719e-17	1.655e-15	4
Gonadal dysgenesis	Perrault syndrome	7	7	CLPP (7), LARS2 (6), TWNK (5), HSD17B4 (7), ERAL1 (5), HARS2 (6), SGO2 (2)	0.19444	0.50000	9.910e-17	1.686e-15	
Small vessel stroke	Stroke	17	3	CASZ1 (2), PRDM16 (1), SH2B3 (2), NBEAL1 (1), WDR12 (1), ATXN2 (1), KNG1 (1), COL4A2 (1), GALNT18 (1), SH3PXD2A (2), STN1 (1), JPH3 (1)	0.04762	0.34000	1.020e-16	1.735e-15	
Pulmonary alveolar proteinosis	Pulmonary surfactant metabolism dysfunction	5	5	CSF2RB (6), SFTPC (5), SFTPB (5), ABCA3 (3), CSF2RA (6)	0.45455	0.83333	1.049e-16	1.782e-15	425
Congenital cystic eyeball	Microphthalmos	6	1	PRSS56 (2), RAX (1), VSX2 (1), ALDH1A3 (1), GDF6 (1), GDF3 (1)	0.16216	1.00000	1.053e-16	1.788e-15	52
Dejerine-sottas disease	Distal hereditary motor neuropathy	9	7	TRPV4 (3), DYNC1H1 (2), FIG4 (1), NEFL (1), HSPB1 (6), PLEKHG5 (3), GARS1 (6), MPZ (3), HSPB8 (6)	0.13636	0.25000	1.096e-16	1.859e-15	13
Cardiofaciocutaneous syndrome	noonan syndrome with multiple lentigines	5	5	BRAF (7), NRAS (2), RAF1 (2), PTPN11 (3), MAP2K1 (7)	0.38462	1.00000	1.099e-16	1.861e-15	49
Xeroderma pigmentosum	Xeroderma pigmentosum-cockayne syndrome	5	4	ERCC2 (7), ERCC4 (7), BIVM-ERCC5 (1), ERCC5 (7), ERCC3 (7)	0.38462	1.00000	1.099e-16	1.861e-15	113
Cobalamin c disease	Methylmalonic acidemia	6	6	PRDX1 (5), MMACHC (7), MMADHC (6), ABCD4 (7), HCFC1 (5), LMBRD1 (7)	0.20690	0.85714	1.119e-16	1.894e-15	198
Hypomyelinating leukodystrophy	Leukodystrophy	8	8	POLR3B (5), TMEM163 (4), HSPD1 (4), PYCR2 (4), POLR3A (4), RARS1 (5), DEGS1 (5), TMEM63A (3)	0.16327	0.30769	1.142e-16	1.932e-15	59
Arrhythmogenic right ventricular cardiomyopathy	Cardiac conduction disease	7	3	CACNB2 (1), TRPM4 (1), MYH6 (1), LMNA (2), SCN5A (3), FPGT-TNNI3K (1), TNNI3K (3)	0.12727	0.77778	1.178e-16	1.991e-15	3
Interstitial cystitis	Sarcoidosis	13	2	HLA-C (1), HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (5), OR5V1 (1), PPT2 (1), TNXB (1), C2 (1), HLA-DQB1 (2), NOTCH4 (1), HLA-DOB (1)	0.06806	0.32500	1.213e-16	2.049e-15	
Open angle glaucoma	Osteoarthritis	59	14	HMGA2 (1), NFIA (1), LTBP3 (3), ABRAXAS2 (1), ANTXR1 (1), APOE (2), BCAS3 (1), BNC2 (1), CCDC91 (1), CLIC5 (1), COL11A1 (3), ERG (1)	0.05668	0.15989	1.244e-16	2.099e-15	
Curling ulcer	Duodenal ulcer	6	6	PLA2G4A (2), PTGS2 (2), TGFB1 (2), ABO (3), NOS2 (2), PSCA (3)	0.15789	1.00000	1.257e-16	2.120e-15	
Colorectal adenoma	Colorectal neoplasms	24	24	BMP2 (2), NXN (2), RHPN2 (2), TCF7L2 (2), TET2 (2), VTI1A (2), BMP4 (2), KLF5 (2), SMAD3 (2), APC (2), ZMIZ1 (2), SMAD9 (2)	0.05897	0.17266	1.263e-16	2.128e-15	
Bone disease	Craniofacial abnormalities	16	15	SLC26A2 (2), BMPR1B (2), LTBP3 (2), DLX5 (2), ITGB1BP1 (2), TGFB2 (2), TRPS1 (2), SH3PXD2B (1), AHR (2), LRP2 (2), TGFBR2 (2), MMP2 (2)	0.07175	0.19512	1.324e-16	2.229e-15	
Metabolic syndrome	Oligodendroglioma	108	1	SOX5 (1), DPYD (1), ADGRB3 (1), AGBL1 (1), ALCAM (1), ANK3 (1), C6orf118 (1), CADPS (1), CBLN2 (1), CDH13 (1), CNTNAP2 (1), CPNE4 (1)	0.06154	0.19320	1.397e-16	2.350e-15	2
Hereditary motor and sensory neuropathies	Motor neuron disease	12	2	SETX (1), TRPV4 (3), DCTN1 (1), DYNC1H1 (1), MFN2 (4), NEFH (1), NEFL (1), SH3TC2 (1), PLEKHG5 (1), GARS1 (1), MPZ (1), IGHMBP2 (1)	0.09524	0.18182	1.409e-16	2.368e-15	13
Congenital cystic eyeball	Microphthalmia	6	6	PRSS56 (3), RAX (3), VSX2 (6), ALDH1A3 (3), GDF6 (5), GDF3 (6)	0.15385	1.00000	1.493e-16	2.507e-15	52
Polydactyly	Postaxial polydactyly	8	6	GLI3 (4), KIF7 (1), IQCE (4), BBS10 (1), GLI1 (5), CIBAR1 (5), KIAA0825 (5), ZNF141 (4)	0.15094	0.38095	1.563e-16	2.624e-15	
hereditary pheochromocytoma-paraganglioma	Paraganglioma	5	5	SDHB (4), SDHD (4), SDHA (2), SDHC (4), SDHAF2 (3)	0.45455	0.71429	1.631e-16	2.731e-15	78
hereditary pheochromocytoma-paraganglioma	Pheochromocytoma/paraganglioma syndrome	5	5	SDHB (5), SDHD (4), SDHA (5), SDHC (4), SDHAF2 (4)	0.45455	0.71429	1.631e-16	2.731e-15	78
46,xy partial gonadal dysgenesis	46,xy sex reversal	5	4	NR5A1 (2), SRY (1), DHX37 (2), MAP3K1 (2), ZFPM2 (2)	0.45455	0.71429	1.631e-16	2.731e-15	149
Cortical dysplasia with other brain malformations	Lissencephaly	8	8	TUBG1 (4), CTNNA2 (5), DYNC1H1 (3), TUBB (3), TUBB3 (3), APC2 (5), TUBB2B (3), TUBGCP2 (2)	0.13333	0.47059	1.632e-16	2.731e-15	
Intellectual developmental disorder, x-linked	non-syndromic X-linked intellectual disability	7	7	GDI1 (5), HUWE1 (6), ACSL4 (5), DLG3 (6), SYP (6), AFF2 (3), TSPAN7 (6)	0.07778	1.00000	1.694e-16	2.833e-15	
Cervical cancer	Upper aerodigestive tract neoplasm	23	0	TP53 (1), HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (1), NYAP2 (1), RBFOX1 (1), TNXB (1), HLA-DQB1 (1), MUC22 (1), ZSCAN31 (1), FBLN2 (1), HLA-DMB (1)	0.06284	0.14286	1.746e-16	2.917e-15	
Kleins syndrome	Waardenburg syndrome	5	5	EDNRB (7), PAX3 (6), KITLG (5), MITF (7), EDN3 (7)	0.35714	1.00000	1.785e-16	2.978e-15	186
Costello syndrome	noonan syndrome with multiple lentigines	5	5	BRAF (3), NRAS (3), RAF1 (2), PTPN11 (3), MAP2K1 (3)	0.35714	1.00000	1.785e-16	2.978e-15	49
Nasal disorder	Rhinitis	9	1	EMSY (1), NEK6 (1), SMAD3 (1), CLEC16A (1), IL7R (1), IL1RL1 (1), IL4R (2), RANBP6 (1), WDR36 (1)	0.11250	0.39130	1.865e-16	3.109e-15	
Diverticular disease	Hemorrhoid	19	4	NF1 (1), BMPR1B (2), TP53 (2), ANO1 (1), TBX5 (1), BTC (1), ELN (2), MAP2K4 (1), SMAD3 (1), TMEM270 (1), ABO (2), GDF7 (1)	0.05938	0.21348	1.922e-16	3.201e-15	
Cleft lip and palate	Cleft palate	8	6	TP63 (2), IRF6 (2), MSX1 (2), PDGFRA (2), CDH1 (2), DLG1 (2), ARHGAP29 (1), NECTIN1 (1)	0.11765	0.53333	2.061e-16	3.430e-15	136
Cervical disc degenerative disorder	Intervertebral disc disease	5	5	IL1B (2), TNF (2), TGFB1 (2), ASPN (3), SPARC (2)	0.41667	0.83333	2.097e-16	3.488e-15	289
Congenital heart disease	Conotruncal cardiac defect	15	5	TBX1 (5), CDH13 (1), FOXP2 (1), NKX2-6 (7), CARTPT (1), MAP1B (1), AHR (1), NKX2-5 (5), IQCJ (1), IQCJ-SCHIP1 (1), SCHIP1 (1), ADAM29 (1)	0.06787	0.23810	2.174e-16	3.614e-15	41
Situs ambiguus	Situs inversus	7	3	PKD1L1 (1), DNAH5 (1), CIROP (1), DNAH9 (2), MMP21 (2), CFAP53 (1), NODAL (2)	0.20000	0.35000	2.194e-16	3.643e-15	54
Brugada syndrome	Hereditary atrial fibrillation	9	9	GATA4 (2), ABCC9 (4), KCNJ2 (2), KCNQ1 (2), SCN5A (8), TTN (2), SCN1B (6), SCN2B (4), SCN3B (7)	0.11392	0.37500	2.206e-16	3.661e-15	3
Dementia	Oligodendroglioma	66	0	ANK3 (1), BIN1 (1), CAMK1D (1), CCDC190 (1), CHN2 (1), CHRM3 (1), CNTNAP2 (1), CPNE4 (1), DGKB (1), EGFLAM (1), FAM135B (1), FAR2 (1)	0.06089	0.11807	2.220e-16	3.682e-15	2
Genetic steroid-resistant nephrotic syndrome	Steroid-resistant nephrotic syndrome	7	0	WT1 (1), COL4A3 (1), PAX2 (1), CRB2 (1), NPHS2 (1), AVIL (1), NPHS1 (1)	0.17073	0.53846	2.249e-16	3.727e-15	20
Brain ischemia	Sepsis	10	10	CASP3 (2), IL1B (2), TNF (2), IL6 (2), MAPK1 (2), CSF3 (2), MMP9 (2), ANGPT1 (2), MAPK3 (2), NOS2 (2)	0.10526	0.29412	2.320e-16	3.842e-15	
Congestive heart failure	Pulmonary hypertension	15	14	EDNRB (2), ACE (2), NOS3 (2), SOD2 (2), TNF (2), SLC6A4 (2), HIF1A (2), NPPB (2), CCL2 (2), RYR1 (1), ACE2 (2), EDN1 (2)	0.06637	0.24590	2.342e-16	3.874e-15	
Migraine	Stroke	40	11	CASZ1 (2), PRDM16 (3), RUNX1 (1), AGBL1 (1), BAZ1B (1), CDC5L (1), DENND1A (1), MLXIPL (1), PRKG1 (1), SUPT3H (1), TCF7L2 (1), WDR12 (1)	0.05814	0.12384	2.391e-16	3.953e-15	34
Congenital pes cavus	Dejerine-sottas disease	7	1	DYNC1H1 (1), NEFL (1), SH3TC2 (1), GARS1 (1), MPZ (3), GDAP1 (1), GJB1 (1)	0.15909	0.58333	2.436e-16	4.019e-15	13
Congenital pes cavus	Hypertrophic neuropathy	7	1	DYNC1H1 (1), NEFL (1), SH3TC2 (1), GARS1 (1), MPZ (2), GDAP1 (1), GJB1 (1)	0.15909	0.58333	2.436e-16	4.019e-15	13
Congenital pes cavus	Roussy-levy syndrome	7	1	DYNC1H1 (1), NEFL (1), SH3TC2 (1), GARS1 (1), MPZ (4), GDAP1 (1), GJB1 (1)	0.15909	0.58333	2.436e-16	4.019e-15	13
46,xy gonadal dysgenesis	Ovarian dysgenesis	6	6	BMP15 (5), FSHR (5), MRPS22 (4), NUP107 (4), PSMC3IP (5), SPIDR (5)	0.27273	0.50000	2.493e-16	4.109e-15	149
Maturity-onset diabetes of the young	Permanent neonatal diabetes mellitus	6	6	INS (5), ABCC8 (5), KCNJ11 (5), GCK (6), PDX1 (4), NEUROD1 (3)	0.27273	0.46154	2.778e-16	4.575e-15	35
Congenital myopathy	Myopathy	12	10	SCN4A (4), ACTA1 (7), MEGF10 (3), RYR1 (6), MYH7 (5), TTN (3), DYSF (3), TPM3 (4), ITGA7 (1), FKRP (1), MYH2 (2), COL6A6 (2)	0.08219	0.26667	2.820e-16	4.641e-15	
Congenital hyperinsulinism	Hyperinsulinism	6	6	HADH (3), ABCC8 (6), HNF4A (4), KCNJ11 (4), GCK (4), GLUD1 (2)	0.13953	1.00000	2.836e-16	4.665e-15	35
Charcot-marie-tooth disease	Hereditary spastic paraplegia	16	8	SETX (2), SPG11 (6), NRG1 (1), BICD2 (1), KIF5A (4), SH3TC2 (6), BSCL2 (1), POLG (1), REEP1 (1), PLEKHG5 (5), DNM2 (7), TFG (2)	0.07339	0.15842	2.900e-16	4.766e-15	
Genetic predisposition to disease	Urinary bladder neoplasms	13	0	CYP17A1 (1), CAT (1), TERT (1), ESR1 (1), PON1 (1), GSTM1 (1), SOD1 (1), GPX1 (1), JAK2 (1), ERCC4 (1), PPP3CC (1), BAP1 (1)	0.07303	0.27083	2.921e-16	4.797e-15	
Congenital pes cavus	Peroneal muscle atrophy	7	0	DYNC1H1 (1), NEFL (1), SH3TC2 (1), GARS1 (1), MPZ (1), GDAP1 (1), GJB1 (1)	0.15556	0.58333	2.968e-16	4.871e-15	13
Periodic limb movement disorder	Willis-ekbom disease	9	3	BTBD9 (3), CNTNAP5 (1), MAP2K5 (1), PTPRD (3), MYT1 (1), MEIS1 (3), CCDC148 (1), STK33 (1), LMO1 (1)	0.04639	0.81818	3.098e-16	5.080e-15	
Hereditary motor and sensory neuropathies	Spinal muscular atrophy	10	6	KIF1B (1), TRPV4 (3), DYNC1H1 (4), ATP7A (2), HSPB1 (1), PLEKHG5 (2), GARS1 (4), HSPB8 (1), IGHMBP2 (3), HSPB3 (1)	0.10638	0.27027	3.264e-16	5.348e-15	13
Hypercalcemia	Osteoporosis	9	9	TNF (2), CALCR (3), IL6 (2), PTH (2), KL (2), TNFRSF11B (3), CYP24A1 (2), CALCA (2), TNFSF11 (3)	0.05960	0.69231	3.343e-16	5.473e-15	
Dyskeratosis congenita	Telomere-related pulmonary fibrosis and/or bone marrow failure	6	6	RTEL1 (8), TERT (8), PARN (7), ZCCHC8 (5), POT1 (4), NOP10 (6)	0.20690	0.75000	3.478e-16	5.686e-15	77
Cerebral amyloid angiopathy	Lewy body disease	13	1	APOC1 (1), APOE (3), CDKAL1 (1), KAZN (1), PTPRD (1), SGK1 (1), HS3ST4 (1), ATP10A (1), POLD3 (1), ABTB2 (1), KCNB2 (1), RAG1 (1)	0.08442	0.18310	3.478e-16	5.686e-15	
Cobalamin c disease	Intracellular cobalamin metabolism disorder	5	5	MMACHC (6), MMADHC (2), ABCD4 (2), HCFC1 (2), LMBRD1 (2)	0.41667	0.71429	3.669e-16	5.994e-15	198
Nasal disorder	Nasal polyp	8	0	CLEC16A (1), IL18R1 (1), IL7R (1), IL1RL1 (1), RANBP6 (1), SPEF2 (1), WDR36 (1), CYP2S1 (1)	0.14545	0.34783	3.753e-16	6.123e-15	103
Autoimmune hepatitis	Rhinitis	10	9	HLA-DQA1 (2), CYP2D6 (1), IL10 (2), IL2 (2), IL4 (2), LEP (2), HLA-DQB1 (2), IFNG (2), IL13 (2), IL18 (2)	0.10638	0.26316	3.752e-16	6.123e-15	46
Congenital hyperinsulinism	Hyperinsulinemic hypoglycemia	5	5	HADH (5), ABCC8 (4), KCNJ11 (5), GCK (3), GLUD1 (3)	0.38462	0.83333	3.844e-16	6.266e-15	35
Congenital aneurysm of ascending aorta	Loeys-dietz syndrome	6	2	FBN1 (1), SMAD3 (4), COL3A1 (1), MYH11 (1), TGFBR2 (7), MYLK (1)	0.26087	0.50000	3.988e-16	6.495e-15	50
Coloboma	Congenital iris coloboma	5	3	PAX6 (4), ACTG1 (2), FZD5 (1), ABCB6 (1), SALL2 (2)	0.31250	1.00000	4.166e-16	6.775e-15	25
Hereditary breast and ovarian cancer syndrome	Hereditary breast-ovarian cancer syndrome	5	5	PALB2 (2), BRCA2 (5), BRCA1 (5), RAD51C (5), RAD51D (5)	0.31250	1.00000	4.166e-16	6.775e-15	
Congenital cardiovascular anomaly	Peripheral vascular disease	6	0	CARD11 (1), GNA12 (1), ANK2 (1), FANCC (1), SERTM1 (1), DOK7 (1)	0.17143	0.85714	4.186e-16	6.798e-15	
Arima syndrome	Meckel-gruber syndrome	6	5	CC2D2A (5), CEP290 (5), TMEM138 (1), TMEM216 (6), TMEM231 (5), TMEM237 (2)	0.17143	0.85714	4.186e-16	6.798e-15	8
complex hereditary spastic paraplegia	Hereditary spastic paraplegia	7	7	NT5C2 (2), B4GALNT1 (2), GBA2 (2), DSTYK (2), VPS37A (2), ENTPD1 (2), MAG (2)	0.06863	1.00000	4.230e-16	6.864e-15	242
Combined d-2- and l-2-hydroxyglutaric aciduria	D-2-hydroxyglutaric aciduria	4	3	D2HGDH (5), IDH2 (5), L2HGDH (1), SLC25A1 (5)	0.80000	1.00000	4.271e-16	6.895e-15	
Congenital malformation syndromes predominantly affecting facial appearance	Warburg micro syndrome	4	4	RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5)	0.80000	1.00000	4.271e-16	6.895e-15	90
Congenital mirror movements	Mirror movements	4	4	DCC (7), RAD51 (6), NTN1 (5), DNAL4 (6)	0.80000	1.00000	4.271e-16	6.895e-15	430
De toni-debre-fanconi syndrome	Fanconi renotubular syndrome	4	4	GATM (4), EHHADH (5), NDUFAF6 (4), SLC34A1 (5)	0.80000	1.00000	4.271e-16	6.895e-15	
Ap-4 deficiency syndrome	Ap4-related intellectual disability and spastic paraplegia	4	4	AP4M1 (2), AP4B1 (2), AP4E1 (2), AP4S1 (2)	0.80000	1.00000	4.271e-16	6.895e-15	
mismatch repair cancer syndrome 1	Muir-torre syndrome	4	4	MSH2 (5), MSH6 (2), PMS2 (2), MLH1 (5)	0.80000	1.00000	4.271e-16	6.895e-15	39
Nephrogenic diabetes insipidus	Neurogenic diabetes insipidus	4	4	AVP (5), PRKCA (2), AQP2 (5), AVPR2 (6)	0.80000	1.00000	4.271e-16	6.895e-15	
Paraganglioma	Pheochromocytoma/paraganglioma syndrome	5	5	SDHB (5), SDHD (5), SDHA (5), SDHC (4), SDHAF2 (4)	0.41667	0.62500	4.348e-16	7.015e-15	78
Nasal disorder	Upper respiratory tract disorder	7	0	NEK6 (1), SMAD3 (1), IL18R1 (1), IL7R (1), IL1RL1 (1), RANBP6 (1), FBXO33 (1)	0.18919	0.35000	4.618e-16	7.446e-15	103
Lamellar cataract	Nuclear cataract	6	6	CRYAA (2), CRYGC (2), CRYAB (2), CRYGD (2), MIP (2), CRYBA1 (2)	0.25000	0.54545	4.622e-16	7.446e-15	51
Hyperlipidemia	Hypertriglyceridemia	11	9	APOB (3), LPL (6), PPARA (2), ZPR1 (2), GCKR (3), CETP (2), PLTP (3), TDRD15 (1), ANGPTL4 (3), APOA5 (4), HAVCR1 (1)	0.06918	0.39286	4.804e-16	7.733e-15	57
Androgenetic alopecia	Obstructive pulmonary disease	53	0	KANSL1 (1), CASZ1 (1), RERE (1), RREB1 (1), HDAC4 (1), FGFR3 (1), AFF3 (1), CCDC91 (1), FADS2 (1), GLIS3 (1), HDAC9 (1), L3MBTL3 (1)	0.05792	0.12990	4.915e-16	7.907e-15	
Peripheral arterial disease	Vascular disease	14	1	HDAC9 (1), NFAT5 (1), TCF7L2 (1), MTHFR (2), ATXN2 (1), CHRNA3 (1), TWIST1 (1), ABO (1), CELSR2 (1), LPA (1), F5 (1), FRMD4A (1)	0.06481	0.26923	5.060e-16	8.134e-15	
Jeune syndrome	Majewski syndrome	7	5	NEK1 (1), IFT80 (5), DYNC2H1 (5), DYNC2LI1 (3), IFT172 (3), TTC21B (6), WDR35 (1)	0.14583	0.58333	5.202e-16	8.356e-15	19
Necrosis	Ventricular dysfunction	10	0	AGT (1), DMD (1), FAS (1), NFE2L2 (1), SOD2 (1), TNF (1), IL6 (1), CAST (1), TNNT2 (1), METTL14 (1)	0.10870	0.21739	5.262e-16	8.445e-15	
Cor pulmonale	Thrombophilia	7	4	FGA (4), F2 (6), ABO (1), SLC19A2 (1), F5 (6), FGG (3), F11 (1)	0.17073	0.46667	5.266e-16	8.446e-15	
Brain injuries	Rhinitis	12	12	BDNF (2), IL10 (2), IL1B (2), IL2 (2), TLR4 (2), TNF (2), PTGS2 (2), ALB (2), IL1RN (2), CD14 (2), TLR2 (2), OCLN (2)	0.08955	0.18462	5.290e-16	8.478e-15	
Distal arthrogryposis	Sheldon-hall syndrome	5	5	MYH3 (5), TPM2 (6), NALCN (2), TNNI2 (5), TNNT3 (5)	0.29412	1.00000	6.059e-16	9.705e-15	258
Irritable bowel syndrome	Obstructive pulmonary disease	30	0	RERE (1), RREB1 (1), ASCC2 (1), CADM2 (1), CELF4 (1), EMSY (1), FOXP2 (1), GLIS3 (1), HEYL (1), HLA-C (1), MECOM (1), MPHOSPH9 (1)	0.04518	0.22388	6.274e-16	1.004e-14	
Crest syndrome	Diffuse cutaneous systemic sclerosis	7	4	HLA-DRB1 (1), CAV1 (2), CCR6 (2), IRF5 (3), STAT4 (2), TNPO3 (1), CCN2 (1)	0.18421	0.33333	6.921e-16	1.107e-14	22
Color vision deficiency	Pelvic organ prolapse	39	0	WT1 (1), SOX5 (1), WWOX (1), CACNA2D3 (1), CAMK1D (1), DISC1 (1), FARP1 (1), GLIS3 (1), NAALADL2 (1), NRP1 (1), PSD3 (1), RBFOX1 (1)	0.03655	0.28058	7.129e-16	1.139e-14	
Carcinoma	Urinary bladder neoplasms	19	0	TP53 (1), EGFR (1), ESR2 (1), RHOA (1), BCL2 (1), ESR1 (1), GSTP1 (1), SOD2 (1), STAT3 (1), PTGS2 (1), HIF1A (1), CSF3 (1)	0.06574	0.13380	7.643e-16	1.221e-14	4
Anemia	Beta thalassemia	9	8	HBA2 (2), HFE (2), EPO (3), TNF (2), HBS1L (2), GATA1 (4), GH1 (1), HAMP (2), HBB (8)	0.09278	0.42857	7.673e-16	1.224e-14	
Cleft palate	Orofacial cleft	14	11	MEIS2 (1), TBX22 (1), COL2A1 (2), TP63 (5), FGF10 (2), IRF6 (4), MSX1 (4), FGFR1 (2), CDH1 (2), DLG1 (2), RYK (2), ARHGAP29 (3)	0.06897	0.23333	7.711e-16	1.230e-14	136
Colonic neoplasms	Liver neoplasms	21	1	TP53 (1), GRIK2 (1), IGF2 (1), MACIR (1), PPARG (1), STAT3 (1), TNF (1), CTNNB1 (1), TRMT11 (1), KRAS (1), APC (1), CDKN1A (1)	0.06269	0.13816	7.848e-16	1.251e-14	4
Anophthalmia	Colobomatous microphthalmia	6	6	SOX2 (3), STRA6 (3), OTX2 (2), RAX (3), VSX2 (2), RBP4 (2)	0.25000	0.42857	8.094e-16	1.289e-14	52
Age-related macular degeneration	C3 glomerulonephritis	7	7	CFHR1 (4), CFI (5), C3 (4), CFB (4), CFH (4), CFHR5 (6), CFHR3 (3)	0.08235	0.87500	8.133e-16	1.294e-14	
Thrombosis	Venous thrombosis	8	0	PLAU (1), EPO (1), F2 (1), PLAT (1), SERPINC1 (1), F5 (1), PROC (1), F3 (1)	0.13333	0.36364	8.550e-16	1.360e-14	36
Cardiomegaly	Fatty liver, alcoholic	13	13	LEP (2), PPARA (2), SOD2 (2), TNF (2), POMC (2), AKT1 (2), CYP1B1 (2), CYP2E1 (2), HTR2B (2), PPARD (2), UCP2 (2), CEBPB (2)	0.08228	0.15476	9.104e-16	1.447e-14	
Hemophilia a	Thrombophilia	7	5	HLA-DQA1 (1), F2 (6), MTHFR (3), PLAT (3), F8 (7), TFPI (1), F9 (6)	0.16667	0.43750	9.348e-16	1.484e-14	36
Autoimmune hepatitis	Sjogren syndrome	10	7	HLA-DQA1 (2), HLA-DRB1 (2), IL10 (2), ATXN2 (1), IL6 (2), HLA-DQB1 (2), HLA-DPB1 (2), CTLA4 (1), STAT4 (3), TSBP1 (1)	0.10000	0.26316	9.583e-16	1.520e-14	
Differentiated thyroid carcinoma	Thyroid cancer	9	3	TERT (2), FOXE1 (2), RET (2), TRMO (1), NRG1 (1), SLK (1), STN1 (1), MBIP (1), PCNX2 (1)	0.11842	0.25714	1.020e-15	1.618e-14	
Catalepsy	Hypotension	8	8	AGT (2), GCG (2), PRL (2), POMC (2), DRD1 (2), DRD2 (2), CNR1 (2), ADORA1 (2)	0.10526	0.50000	1.044e-15	1.654e-14	66
Meniere disease	nonsyndromic genetic hearing loss	12	12	OTOGL (2), PCDH15 (2), OTOG (2), TNC (2), MYO6 (2), CDH23 (2), MYO7A (2), WFS1 (2), MYH14 (2), TECTA (2), EPS8L2 (2), USH1C (2)	0.08696	0.17910	1.067e-15	1.689e-14	31
Essential thrombocythemia	Thrombocythemia	5	5	SH2B3 (4), MPL (6), THPO (4), JAK2 (6), CALR (4)	0.33333	0.83333	1.071e-15	1.693e-14	98
Essential thrombocythemia	Thrombocytosis	5	5	SH2B3 (3), MPL (4), THPO (4), JAK2 (3), CALR (3)	0.33333	0.83333	1.071e-15	1.693e-14	98
Desbuquois syndrome	Intellectual developmental disorder	79	79	ANKRD11 (2), NF1 (2), NFIX (2), SKI (2), HDAC4 (2), FGD1 (2), KIF7 (2), ZSWIM6 (2), NPR2 (2), ACTB (2), PEX7 (2), ALG3 (2)	0.06086	0.13933	1.103e-15	1.742e-14	
Cerebrovascular disorder	Peripheral vascular disease	10	5	HDAC9 (2), ATXN2 (1), TWIST1 (1), ABO (2), CELSR2 (1), LPA (1), PSRC1 (1), F5 (2), ANK2 (2), EDNRA (2)	0.09259	0.30303	1.122e-15	1.772e-14	
Microcephaly	Seckel syndrome	9	8	CENPE (6), TRAIP (5), CDK5RAP2 (4), RBBP8 (7), PLK4 (6), CEP152 (6), CEP63 (6), CPAP (6), RNF17 (1)	0.07759	0.50000	1.134e-15	1.789e-14	137
Catalepsy	Hyperkinesia	7	7	GCG (2), DRD1 (2), DRD2 (2), CCK (2), NTS (2), CALCA (2), TH (2)	0.16279	0.43750	1.186e-15	1.869e-14	66
Congenital nemaline myopathy	Nemaline myopathy	5	5	ACTA1 (3), LMOD3 (7), NEB (7), KLHL41 (7), KLHL40 (6)	0.26316	1.00000	1.189e-15	1.872e-14	162
Esophageal neoplasms	Esophageal squamous cell carcinoma	14	1	WWOX (1), TP53 (1), EGFR (1), ALDH2 (1), SOD2 (1), PTGS2 (1), TPM1 (1), PRDX1 (1), ADH1B (1), CDKN2A (1), CASP8 (2), CCND1 (1)	0.07368	0.18919	1.216e-15	1.915e-14	4
Bone disease	Cartilage disease	8	1	HLA-DQA1 (1), HLA-DRB1 (1), NPPC (2), DAB2IP (1), PDZRN3 (1), CETN3 (1), FAM180A (1), MTPN (1)	0.08989	0.57143	1.333e-15	2.097e-14	
Russell-silver syndrome	Silver-russell syndrome	5	5	HMGA2 (6), FOXP2 (2), IGF2 (7), CDKN1C (3), PLAG1 (5)	0.35714	0.71429	1.345e-15	2.114e-14	323
Heart disease	Vascular disease	13	4	AGT (2), HDAC9 (1), EPO (2), GCG (2), ATXN2 (1), ABO (1), SLC19A2 (1), CELSR2 (1), LPA (1), PSRC1 (1), F5 (1), TIMP1 (2)	0.06989	0.25000	1.346e-15	2.114e-14	
Intellectual developmental disorder, x-linked	X-linked syndromic intellectual disability	7	7	CASK (3), RPL10 (5), BRWD3 (6), LAS1L (3), NONO (4), DDX3X (6), USP9X (6)	0.07692	0.87500	1.349e-15	2.118e-14	
Diabetic retinopathy	Gestational diabetes	16	7	CDKAL1 (2), TCF7L2 (2), INSR (2), IL6 (1), GAD2 (2), HLA-DQB1 (2), GCKR (1), KCNQ1 (1), ADIPOQ (2), SLC30A8 (1), TRIB2 (1), CCND2 (1)	0.06695	0.17778	1.420e-15	2.227e-14	182
Cardiomegaly	Hypotension	12	0	ADRA1B (1), AGT (1), REN (1), IL1B (1), TNF (1), POMC (1), NPPB (1), NPPA (1), EDN1 (1), ADRA2A (1), APLN (1), CTF1 (1)	0.08571	0.17910	1.446e-15	2.266e-14	
Interstitial cystitis	Pemphigus vulgaris	6	1	HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (1), HLA-DQB1 (2), PPP1R10 (1)	0.14286	0.85714	1.450e-15	2.271e-14	1
complex hereditary spastic paraplegia	Spastic paraplegia	7	7	NT5C2 (6), B4GALNT1 (5), GBA2 (5), DSTYK (6), VPS37A (6), ENTPD1 (5), MAG (5)	0.05785	1.00000	1.463e-15	2.290e-14	242
Cerebrovascular disorder	Peripheral arterial disease	16	7	SH2B3 (2), HDAC9 (2), LDLR (1), SMARCA4 (1), MTHFR (1), ATXN2 (1), IL6 (2), TWIST1 (1), ABO (2), CELSR2 (1), LPA (1), F5 (2)	0.06504	0.19048	1.516e-15	2.372e-14	
Thrombocytopenia	Venous thrombosis	10	10	F13A1 (2), EPO (2), MTHFR (2), CSF2 (2), PLAT (2), JAK2 (2), LPA (2), SERPINC1 (2), PLG (2), F7 (2)	0.06579	0.45455	1.526e-15	2.386e-14	36
Cone-rod dystrophy	Night blindness, congenital stationary	9	6	ABCA4 (7), CACNA1F (4), PDE6B (3), USH2A (1), GUCY2D (6), RBP3 (1), CABP4 (1), RHO (3), RPGR (3)	0.09890	0.36000	1.588e-15	2.480e-14	
Anxiety disorder	Psychiatric disorders	21	7	RAI1 (2), DCC (1), HTR1A (2), MAPT (2), SORCS3 (1), THSD7A (1), TMEM106B (1), ZSCAN12 (1), CRH (2), DRD2 (3), MECP2 (2), CACNA1C (3)	0.06087	0.14384	1.594e-15	2.488e-14	
Digeorge syndrome	Velocardiofacial syndrome	5	5	TBX1 (6), DGCR8 (4), DGCR2 (4), DGCR6 (4), ESS2 (4)	0.25000	1.00000	1.613e-15	2.516e-14	
46,xy partial gonadal dysgenesis	Swyer syndrome	5	5	NR5A1 (2), SOX9 (2), SRY (2), DHX37 (2), MAP3K1 (2)	0.35714	0.62500	1.956e-15	3.049e-14	149
Kidney disease	Nephrolithiasis	25	8	BCAS3 (1), L3MBTL3 (1), PRKAG2 (1), SHROOM3 (1), STC1 (1), VEGFA (1), WDR72 (1), PTGS2 (3), RNLS (2), FTO (1), PDILT (1), UMOD (3)	0.04798	0.20833	1.964e-15	3.059e-14	
Delirium, dementia, and cognitive disorders	Memory disorders	10	10	COMT (2), INS (2), APP (2), PSEN1 (2), IGF2 (2), MAPT (2), DRD2 (2), SLC6A4 (2), CNR1 (2), HTR2A (2)	0.10204	0.19608	1.976e-15	3.076e-14	
Perisylvian syndrome	Polymicrogyria	6	5	CCND2 (2), PI4KA (2), ADGRG1 (3), SRPX2 (2), TUBB2B (2), SCN3A (1)	0.20000	0.60000	2.002e-15	3.114e-14	
Conduction disorder of the heart	Restrictive cardiomyopathy	7	1	DMD (1), DSP (1), CACNA1C (1), MYH6 (1), FLNC (3), MYH7 (1), TTN (1)	0.17073	0.30435	2.054e-15	3.193e-14	3
Glycinuria with/without oxalate urolithiasis	Iminoglycinuria	4	3	SLC36A1 (1), SLC36A2 (6), SLC6A19 (2), SLC6A20 (3)	0.66667	1.00000	2.135e-15	3.300e-14	
Hereditary hyperekplexia	Hyperexplexia hereditary	4	4	GPHN (4), SLC6A5 (4), GLRA1 (4), GLRB (3)	0.66667	1.00000	2.135e-15	3.300e-14	322
Paroxysmal dyskinesia	Paroxysmal dystonic choreoathetosis	4	3	SLC2A1 (1), KCNJ10 (2), PRRT2 (2), KCNA1 (2)	0.66667	1.00000	2.135e-15	3.300e-14	85
Hyperekplexia	Hyperexplexia hereditary	4	4	GPHN (4), SLC6A5 (5), GLRA1 (4), GLRB (5)	0.66667	1.00000	2.135e-15	3.300e-14	322
Butterfly-shaped pigmentary macular dystrophy	Patterned macular dystrophy	4	4	PRPH2 (5), CTNNA1 (5), OTX2 (3), MAPKAPK3 (3)	0.66667	1.00000	2.135e-15	3.300e-14	
Apert syndrome	Congenital malformation syndromes predominantly affecting facial appearance	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.66667	1.00000	2.135e-15	3.300e-14	90
Apert syndrome	Warburg micro syndrome	4	4	RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5)	0.66667	1.00000	2.135e-15	3.300e-14	90
Cleft eyelid	Congenital iris coloboma	4	0	PAX6 (1), FZD5 (1), ABCB6 (1), SALL2 (1)	0.66667	1.00000	2.135e-15	3.300e-14	25
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	Cytochrome c oxidase deficiency	5	5	SCO2 (5), COA5 (5), COA6 (5), COX15 (5), SURF1 (2)	0.23810	1.00000	2.151e-15	3.321e-14	62
genetic developmental and epileptic encephalopathy	West syndrome	8	8	WWOX (2), SIK1 (2), ARX (2), SCN1A (2), DNM1 (2), STXBP1 (2), PLCB1 (2), SPTAN1 (2)	0.13559	0.26667	2.185e-15	3.371e-14	
Myeloid leukemia	Urinary bladder neoplasms	18	3	TERT (2), INPP4B (1), KMT2C (1), NECTIN2 (1), BCL2 (1), FAS (1), STAT3 (1), CSF3 (1), JAK2 (2), KRAS (2), MYC (1), NQO1 (1)	0.06545	0.12676	2.208e-15	3.405e-14	
Ischemic stroke	Thromboembolism	7	7	PLAU (2), F2 (2), PLAT (2), F5 (2), PROC (2), PROS1 (2), F7 (2)	0.12281	0.58333	2.227e-15	3.432e-14	36
Hypoplastic left heart syndrome	Tetralogy of fallot	9	9	TBX1 (5), NOTCH1 (2), HAND1 (2), RBFOX2 (2), MYH6 (2), TBX20 (2), NKX2-5 (6), MYH7 (2), CFAP53 (2)	0.07258	0.50000	2.229e-15	3.432e-14	41
Delirium, dementia, and cognitive disorders	Seizures	13	13	INS (2), AGT (2), APOE (2), BCHE (2), BDNF (2), CRH (2), DRD2 (2), DRD3 (2), PTGS2 (2), CNR1 (2), SLC1A1 (2), TSC1 (2)	0.07027	0.23214	2.448e-15	3.768e-14	
Congenital cartilage disorder	Marshall syndrome	7	7	SLC26A2 (2), COL2A1 (2), COL11A1 (6), COL11A2 (2), COL9A1 (2), COL9A2 (2), COL9A3 (2)	0.16279	0.36842	2.483e-15	3.819e-14	
Colobomatous microphthalmia	Congenital cystic eyeball	5	5	RAX (2), VSX2 (2), ALDH1A3 (2), GDF6 (2), GDF3 (2)	0.29412	0.83333	2.498e-15	3.839e-14	52
Bronchial hyperreactivity	Hyperalgesia	8	8	NGF (2), TAC1 (2), CCL2 (2), IL1RN (2), PTGS1 (2), VIP (2), TRPA1 (2), CALCA (2)	0.08333	0.57143	2.636e-15	4.042e-14	
Hyperalgesia	Hyperemia	8	8	AGT (2), IL1B (2), TAC1 (2), PTGS2 (2), KNG1 (2), BDKRB2 (2), NOS2 (2), CNR2 (2)	0.08333	0.57143	2.636e-15	4.042e-14	
Cardiomegaly	Fatty liver	13	13	LEP (2), PPARA (2), SOD2 (2), TNF (2), POMC (2), AKT1 (2), CYP1B1 (2), CYP2E1 (2), HTR2B (2), PPARD (2), UCP2 (2), CEBPB (2)	0.07879	0.15476	2.634e-15	4.042e-14	
Diabetic eye disease	Gestational diabetes	11	2	CDKAL1 (2), HLA-DQB3 (1), TCF7L2 (2), HLA-DQB1 (1), GCKR (1), KCNQ1 (1), SLC30A8 (1), CCND2 (1), IGF2BP2 (1), PAX4 (1), ADCY5 (1)	0.08594	0.22917	2.741e-15	4.201e-14	182
Breast cancer	Uterine fibroid	63	3	CASZ1 (1), CHEK2 (1), RTEL1 (1), TERT (1), TP53 (4), CSMD1 (1), CTNNA2 (1), ETV1 (1), EXO1 (1), LRRN2 (1), MDM4 (1), NAALADL2 (1)	0.04809	0.20588	2.759e-15	4.225e-14	21
Obstructive pulmonary disease	Open angle glaucoma	49	5	HMGA2 (1), RERE (1), ZFPM2 (1), ANTXR1 (1), APOE (2), BCAS3 (1), BNC2 (1), CADM2 (1), CCDC91 (1), COL6A3 (2), DGKB (1), GLIS3 (1)	0.05568	0.13279	2.778e-15	4.251e-14	
Esophageal squamous cell carcinoma	Urinary bladder neoplasms	17	0	TP53 (1), EGFR (1), KMT2C (1), SOD2 (1), KMT2D (1), PTGS2 (1), CREBBP (1), HIF1A (1), CDKN1A (1), SOX2 (1), RB1 (1), CDKN2A (1)	0.06667	0.13178	2.802e-15	4.285e-14	4
Cholangiocarcinoma	Pancreatic neoplasms	11	2	HNF1B (1), PTEN (1), TP53 (1), EGFR (1), PTGS2 (1), KRAS (1), SMAD4 (1), BRCA2 (2), BAP1 (1), BRCA1 (2), MSLN (1)	0.07586	0.28947	3.055e-15	4.669e-14	4
Dental caries	Upper aerodigestive tract neoplasm	22	2	ABT1 (1), ADGRL2 (1), GLIS3 (1), HLA-DQA1 (1), HMGN4 (1), RBMS3 (1), THSD4 (1), TNXB (1), IL1B (2), CHRNB4 (1), HLA-DQB1 (2), CARMIL1 (1)	0.05930	0.13665	3.075e-15	4.697e-14	
Movement disorder	Seizures	13	13	HCN1 (2), ACHE (2), CRH (2), PDYN (2), ADORA2A (2), DRD1 (2), DRD2 (2), DRD3 (2), OPRM1 (2), CNR1 (2), SCN1A (2), SCN2A (5)	0.06989	0.22807	3.147e-15	4.803e-14	
Hyperinsulinism	Hypoglycemia	8	8	INS (2), TNF (2), ABCC8 (7), HNF4A (3), KCNJ11 (3), GCK (3), HNF1A (3), GLUD1 (2)	0.12903	0.29630	3.226e-15	4.921e-14	35
Dyslexia	Specific language disorder	9	1	EPHA4 (1), FOXP2 (3), RBFOX2 (1), STK24 (1), ZFP64 (1), COX6A1 (1), PMFBP1 (1), CCDC136 (1), INIP (1)	0.07377	0.47368	3.287e-15	5.009e-14	272
Hypoglycemia	monogenic diabetes	6	6	INS (3), ABCC8 (5), HNF4A (2), KCNJ11 (2), GCK (2), HNF1A (3)	0.18750	0.60000	3.346e-15	5.095e-14	35
Mesothelioma	Pulmonary fibrosis	16	16	CAT (2), SPP1 (2), IL1A (2), IL4 (2), PARP1 (2), IL6 (2), PDGFA (2), CXCL8 (2), HGF (2), IL12B (2), FN1 (2), CCL5 (2)	0.06751	0.14953	3.438e-15	5.233e-14	
Amphetamine or sympathomimetic abuse	Movement disorder	11	11	MAP2K5 (3), ACHE (2), GSTP1 (2), PDYN (2), ADORA2A (2), DRD1 (2), DRD2 (2), DRD3 (2), GSTM1 (2), NRG1 (2), OPRM1 (2)	0.08871	0.19298	3.571e-15	5.431e-14	
Gonadal dysgenesis	Premature ovarian failure	10	5	WT1 (1), BMP15 (1), BNC1 (4), MRPS22 (1), NR5A1 (5), FMR1 (5), LARS2 (1), FIGLA (5), SGO2 (1), MSH4 (4)	0.07519	0.35714	3.883e-15	5.901e-14	
Erythematosquamous dermatosis	Psoriasis vulgaris	8	0	IL23R (1), IL2RA (1), TYK2 (1), ZMIZ1 (1), IL13 (1), POLI (1), CARD14 (1), FAM8A1 (1)	0.11594	0.36364	4.097e-15	6.223e-14	
Bronchopulmonary dysplasia	Obstructive airway disease	11	1	GSTP1 (1), GSTT1 (1), IL1B (2), MBL2 (1), TNF (1), GSTM1 (1), VDR (1), IL1RN (1), SFTPD (1), SFTPA1 (1), SFTPB (1)	0.08148	0.24444	4.166e-15	6.323e-14	133
Fatty liver, alcoholic	Hyperglycemia	11	9	INS (2), LEP (2), NFE2L2 (2), PON1 (1), TF (1), SOD1 (2), GPX1 (2), CCL2 (2), COL3A1 (2), NUS1 (2), LEPR (2)	0.08594	0.21154	4.270e-15	6.476e-14	
Hyperglycemia	Maturity-onset diabetes of the young (mody)	8	7	INS (5), INS-IGF2 (1), KLF11 (5), PAX4 (5), GCK (6), HNF1A (5), PDX1 (6), NEUROD1 (5)	0.11765	0.34783	4.540e-15	6.881e-14	35
Marshall syndrome	Osteochondrodysplasias	7	7	SLC26A2 (2), COL2A1 (2), COL11A1 (6), COL11A2 (2), COL9A1 (2), COL9A2 (2), COL9A3 (2)	0.15217	0.36842	5.200e-15	7.877e-14	
Hyperalgesia	Status epilepticus	12	12	NTF3 (2), NOS1 (2), TNF (2), NGF (2), FOS (2), GDNF (2), PTGS2 (2), CCL2 (2), NOS2 (2), IL1RN (2), CNR1 (2), SLC12A5 (2)	0.08108	0.17143	5.227e-15	7.911e-14	
Hypoglycemia	Maturity-onset diabetes of the young (mody)	7	6	INS (5), INS-IGF2 (1), ABCC8 (5), HNF4A (5), KCNJ11 (6), GCK (6), HNF1A (5)	0.15909	0.30435	5.257e-15	7.952e-14	35
Cardiac arrest	Conduction disorder of the heart	7	0	DSG2 (1), TRPM4 (1), DSP (1), MYH6 (1), RYR2 (1), SCN5A (1), ANK2 (1)	0.15909	0.29167	5.497e-15	8.308e-14	3
Hyperglycemia	Maturity-onset diabetes of the young	7	7	INS (3), KLF11 (2), PAX4 (2), GCK (3), HNF1A (3), PDX1 (2), NEUROD1 (3)	0.11864	0.53846	5.559e-15	8.397e-14	35
Hallervorden spatz syndrome	Neurodegeneration with brain iron accumulation	5	5	PLA2G6 (5), PANK2 (3), WDR45 (5), C19orf12 (6), COASY (4)	0.29412	0.71429	5.826e-15	8.783e-14	107
Hemochromatosis	Iron overload	5	5	CP (2), HAMP (6), SLC40A1 (5), BMP6 (5), FTH1 (6)	0.29412	0.71429	5.826e-15	8.783e-14	
Congenital hypothyroidism	Thyroid dyshormonogenesis	5	5	IYD (5), TPO (5), SLC5A5 (6), DUOX2 (6), DUOXA2 (5)	0.29412	0.71429	5.826e-15	8.783e-14	102
Cone-rod dystrophy	Nystagmus	10	5	ATF6 (4), CNGB3 (1), GUCY2D (5), RPGRIP1 (6), RPE65 (2), NMNAT1 (2), CEP290 (1), SCLT1 (1), KCNV2 (1), RHO (1)	0.09259	0.23256	5.904e-15	8.893e-14	7
Graves disease	Uveitis	10	5	HLA-DRB1 (2), IL10 (1), IL1B (1), TNF (1), IL6 (2), TGFB1 (2), HLA-B (2), IL23R (1), GC (2), IL13 (1)	0.08130	0.30303	6.204e-15	9.340e-14	
Fanconi renotubular syndrome	Fanconi syndrome	4	4	GATM (7), EHHADH (7), NDUFAF6 (6), SLC34A1 (7)	0.57143	1.00000	6.406e-15	9.624e-14	
Bethlem myopathy	Ullrich congenital muscular dystrophy	4	4	COL12A1 (7), COL6A3 (6), COL6A1 (7), COL6A2 (6)	0.57143	1.00000	6.406e-15	9.624e-14	307
De toni-debre-fanconi syndrome	Fanconi syndrome	4	4	GATM (4), EHHADH (4), NDUFAF6 (3), SLC34A1 (3)	0.57143	1.00000	6.406e-15	9.624e-14	
Neutropenia	Severe congenital neutropenia	8	8	CLPB (5), CSF3R (6), ELANE (7), SRP19 (2), SEC61A1 (3), SMARCD2 (2), JAGN1 (5), SRP68 (3)	0.11111	0.36364	6.491e-15	9.745e-14	211
Deficiency anemia	Megaloblastic anemia	6	3	FUT2 (1), TCN2 (3), CUBN (2), TCN1 (2), MMAA (1), OOSP3 (1)	0.19355	0.50000	6.684e-15	1.003e-13	100
Adenoid cystic carcinoma	Transitional cell carcinoma	10	0	TP53 (1), ARID1A (1), KMT2C (1), CREBBP (1), DAPK1 (1), KDM6A (1), HRAS (1), EP300 (1), CCND1 (1), ESPL1 (1)	0.08065	0.30303	6.884e-15	1.032e-13	
Berardinelli-seip congenital lipodystrophy	Lipodystrophy	5	5	PPARG (4), CAV1 (5), BSCL2 (5), CAVIN1 (5), AGPAT2 (6)	0.25000	0.83333	7.126e-15	1.068e-13	79
Esophageal neoplasms	Mouth neoplasms	11	0	TP53 (1), ENO1 (1), GAPDH (1), SOD2 (1), PTGS2 (1), ADH1B (1), CDKN2A (1), SFN (1), CRYAB (1), SERPINB3 (1), ADH7 (1)	0.08661	0.17460	7.349e-15	1.100e-13	4
Fanconi anemia	Hereditary breast cancer	8	8	XRCC2 (7), RAD51 (6), FANCM (7), PALB2 (8), BRCA2 (8), BRIP1 (8), BRCA1 (6), SLX4 (8)	0.12500	0.25000	7.923e-15	1.185e-13	39
Congenital total cataract	Nuclear cataract	6	6	CRYBB2 (3), CRYAA (3), EPHA2 (3), GJA8 (3), MIP (3), FYCO1 (3)	0.20690	0.37500	7.985e-15	1.194e-13	51
Vitamin b12 deficiency	Vitamin deficiency disorder	5	0	FUT2 (1), TCN2 (1), CUBN (1), TCN1 (1), OOSP3 (1)	0.31250	0.55556	8.065e-15	1.205e-13	100
Colitis	Rhinitis	9	8	SERPINE1 (1), HMOX1 (2), IL10 (2), IL1B (2), IL4 (2), TNF (2), PTGS2 (2), IFNG (2), IL17A (2)	0.10000	0.27273	8.518e-15	1.272e-13	
Edema	Hypotension	10	0	INS (1), CAT (1), TNF (1), IL6 (1), POMC (1), TAC1 (1), KNG1 (1), OXT (1), VIP (1), SLC9A3 (1)	0.09346	0.20408	8.678e-15	1.295e-13	66
46,xy gonadal dysgenesis	46,xy sex reversal	5	4	NR5A1 (2), SRY (1), CBX2 (2), DHX37 (2), MAP3K1 (2)	0.27778	0.71429	8.739e-15	1.303e-13	149
Corneal ulcer	Eye disease	7	0	UBE2V2 (1), RDX (1), ALPK1 (1), SLC9A9 (1), UTRN (1), NTF4 (1), CCBE1 (1)	0.07216	0.77778	8.972e-15	1.337e-13	
Congenital nystagmus	Nystagmus	6	4	ATF6 (2), ROBO1 (4), RPE65 (2), PAX6 (1), AHR (2), TYR (1)	0.13043	0.75000	9.192e-15	1.369e-13	
Lung disease	Rhinitis	12	5	CAT (2), SERPINE1 (1), IL1B (1), IL2 (1), TNF (2), PTGS2 (2), IL13 (2), IL18 (1), TLR2 (1), CFTR (2), IL4R (1), SFTPD (1)	0.07742	0.18462	9.787e-15	1.456e-13	
Ovarian epithelial cancer	Ovarian serous carcinoma	20	0	HNF1B (1), TERT (1), BNC2 (1), GABRG3 (1), HLA-DRB5 (1), JAZF1 (1), MECOM (1), NSF (1), PLEKHM1 (1), TTC28 (1), LAMA3 (1), RSPO1 (1)	0.05464	0.17391	9.806e-15	1.458e-13	21
Cerebral amyloid angiopathy	Dementia	22	4	APP (6), ITM2B (3), APOE (3), DOCK10 (1), EFHB (1), FSTL5 (1), GRIK2 (1), KAZN (1), KCNH8 (1), NCK2 (1), NECTIN2 (1), PTPRD (1)	0.03438	0.30986	9.962e-15	1.480e-13	
Cerebrovascular disorder	Large artery stroke	12	5	SH2B3 (2), HDAC9 (2), MMP12 (2), SMARCA4 (1), ATXN2 (1), TWIST1 (1), ABO (2), CELSR2 (1), LPA (1), MMP13 (1), PSRC1 (1), EDNRA (2)	0.07947	0.15385	9.983e-15	1.483e-13	73
Distal spinal muscular atrophy	Motor neuron disease	9	1	SETX (1), TRPV4 (1), DCTN1 (1), DYNC1H1 (1), NEFL (1), SH3TC2 (1), PLEKHG5 (1), GARS1 (1), IGHMBP2 (3)	0.09574	0.29032	1.036e-14	1.538e-13	13
Fatty liver	Hyperglycemia	11	11	INS (2), LEP (2), NFE2L2 (2), PON1 (2), TF (2), SOD1 (2), GPX1 (2), CCL2 (2), COL3A1 (2), NUS1 (2), LEPR (2)	0.08148	0.21154	1.046e-14	1.551e-13	
Hereditary hearing loss	Meniere disease	10	10	PCDH15 (2), MYO6 (2), TRIOBP (2), CDH23 (2), MYO7A (2), WFS1 (2), MYH14 (2), MYH9 (2), TECTA (2), USH1C (2)	0.09259	0.20000	1.081e-14	1.602e-13	31
Allergic contact dermatitis	Atopic dermatitis	11	9	IL10 (2), IL2 (2), IL4 (2), TLR4 (1), TNF (2), IFNG (2), CYP1A1 (2), IL18 (2), IL5 (2), NAT2 (1), SELE (2)	0.08527	0.16667	1.083e-14	1.603e-13	46
Myositis	Polymyositis	8	2	DGKQ (1), SDK2 (1), HLA-DQB1 (2), PTPN22 (1), STAT4 (2), BLK (1), FAM167A (1), NAB1 (1)	0.10526	0.36364	1.153e-14	1.707e-13	22
Atopic dermatitis	Lung disease	12	4	GSTP1 (1), GSTT1 (1), IL1B (2), IL2 (1), TNF (2), GSTM1 (1), TGFB1 (2), IL13 (2), IL18 (1), TLR2 (1), IL4R (1), NAT2 (1)	0.07692	0.18182	1.190e-14	1.760e-13	
Erythematosquamous dermatosis	Sebaceous gland disease	6	0	HERC2 (1), RALY (1), IRF4 (1), TYR (1), MC1R (1), SLC45A2 (1)	0.19355	0.42857	1.203e-14	1.778e-13	263
Anemia	Iron deficiency anemia	7	4	HFE (2), PON1 (1), TF (1), TNF (2), SLC11A2 (2), GPX1 (1), TMPRSS6 (3)	0.07955	0.70000	1.319e-14	1.948e-13	
Androgenetic alopecia	Osteoarthritis	59	8	KANSL1 (1), FGFR3 (1), TEAD1 (1), AKAP1 (1), ARHGAP15 (1), ARL17B (1), CCDC91 (1), CDC5L (1), CDKAL1 (1), CLIC4 (2), CLIC5 (1), CRADD (1)	0.05463	0.14461	1.339e-14	1.977e-13	
Idiopathic steroid-resistant nephrotic syndrome	Nephrotic syndrome, focal segmental type	5	4	ACTN4 (2), MYO1E (2), PAX2 (2), ANLN (1), CRB2 (2)	0.17241	1.00000	1.363e-14	2.011e-13	
Angioedema	Hereditary angioedema	6	6	KNG1 (6), SERPING1 (7), F12 (7), ANGPT1 (5), MYOF (5), HS3ST6 (4)	0.10169	0.85714	1.370e-14	2.018e-13	
Myelodysplastic syndrome	Myeloid leukemia	12	6	GATA2 (3), RUNX1 (4), TERT (3), CTNNA1 (1), JAK2 (3), KRAS (2), DNMT3A (3), DAPK1 (1), MYC (1), STAG2 (1), BMI1 (1), LYL1 (1)	0.06486	0.26087	1.369e-14	2.018e-13	
Megaloblastic anemia	Vitamin deficiency disorder	5	3	FUT2 (1), TCN2 (3), CUBN (2), TCN1 (2), OOSP3 (1)	0.29412	0.55556	1.382e-14	2.032e-13	100
Ellis-van creveld syndrome	Majewski syndrome	5	3	EVC (7), EVC2 (7), DYNC2LI1 (3), WDR35 (1), TRAF3IP1 (1)	0.29412	0.55556	1.382e-14	2.032e-13	
Vitamin b deficiency	Vitamin deficiency disorder	5	1	FUT2 (2), TCN2 (1), CUBN (1), TCN1 (1), OOSP3 (1)	0.29412	0.55556	1.382e-14	2.032e-13	100
Astrocytoma	Scoliosis	60	5	WWOX (1), NOTCH1 (2), C6orf118 (1), CTNNA3 (1), DAB1 (1), DENND4A (1), DNAH14 (1), DOCK1 (1), EPHA4 (1), GPATCH2L (1), HDAC9 (1), HNF4G (1)	0.04706	0.19934	1.456e-14	2.139e-13	
Crest syndrome	Systemic scleroderma	6	1	HLA-DRB5 (1), IRF5 (2), FCGR2B (1), FCGR3B (1), STAT4 (1), TNPO3 (1)	0.19355	0.40000	1.458e-14	2.140e-13	22
Hashimoto disease	Latent autoimmune diabetes in adults	6	1	SH2B3 (1), HLA-DQA1 (1), ATXN2 (1), BACH2 (1), CTLA4 (3), PTPN22 (1)	0.17647	0.50000	1.469e-14	2.155e-13	
Hyper-igm immunodeficiency syndrome	Hyper-immunoglobulin m syndrome	4	4	AICDA (6), CD40LG (5), CD40 (6), UNG (5)	0.50000	1.00000	1.495e-14	2.182e-13	
Mandibulofacial dysostosis	Treacher collins syndrome	4	4	POLR1C (7), TCOF1 (6), POLR1D (7), POLR1B (6)	0.50000	1.00000	1.495e-14	2.182e-13	
Congenital hypothyroidism due to absence of thyroid gland	Thyroid agenesis	4	0	TSHR (1), NKX2-5 (1), PAX8 (1), SLC26A4 (1)	0.50000	1.00000	1.495e-14	2.182e-13	102
Congenital malformation syndromes predominantly affecting facial appearance	Cryptophthalmos syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.50000	1.00000	1.495e-14	2.182e-13	90
Congenital malformation syndromes predominantly affecting facial appearance	Cyclocephaly	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.50000	1.00000	1.495e-14	2.182e-13	90
Cryptophthalmos syndrome	Warburg micro syndrome	4	4	RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5)	0.50000	1.00000	1.495e-14	2.182e-13	90
Cyclocephaly	Warburg micro syndrome	4	4	RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5)	0.50000	1.00000	1.495e-14	2.182e-13	90
Carney-stratakis syndrome	hereditary pheochromocytoma-paraganglioma	4	4	SDHB (5), SDHD (5), SDHA (2), SDHC (5)	0.50000	1.00000	1.495e-14	2.182e-13	78
Diverticular disease	Metabolic syndrome	61	3	RREB1 (1), BMPR1B (2), ADK (1), ABHD17A (1), ARHGAP15 (2), FSTL5 (1), ICA1L (1), JAZF1 (1), KLF16 (1), LCORL (1), MAML3 (1), MMS22L (1)	0.04088	0.24498	1.515e-14	2.210e-13	
Hypertrophy	Ventricular dysfunction	9	0	AGT (1), IGF2R (1), CTNNB1 (1), CSF3 (1), SIRT1 (1), LEPR (1), SIRT6 (1), GAA (1), PNPLA2 (1)	0.10345	0.19565	1.551e-14	2.261e-13	
Dravet syndrome	Rolandic epilepsy	6	6	GABRG2 (3), SCN1A (5), SCN1B (3), SCN2A (2), PCDH19 (3), SCN9A (2)	0.12000	0.75000	1.618e-14	2.357e-13	228
Hypogonadism	Hypopituitarism	10	7	CYP17A1 (2), IL17RD (1), TACR3 (3), CYP19A1 (3), PRL (2), TAC3 (2), GNRH1 (2), KISS1R (1), PROP1 (1), GNRHR (2)	0.08850	0.21739	1.642e-14	2.390e-13	58
Focal segmental glomerulosclerosis	Nephrotic syndrome, focal segmental type	5	5	ACTN4 (3), MYO1E (4), PAX2 (4), ANLN (4), CRB2 (5)	0.16667	1.00000	1.647e-14	2.396e-13	
Brain ischemia	Colitis	9	9	MPO (2), IGF1 (2), IL1B (2), TNF (2), IL6 (2), RELA (2), PTGS2 (2), IL17A (2), NOS2 (2)	0.09474	0.27273	1.721e-14	2.501e-13	
Atrial flutter	Sick sinus syndrome	8	4	KCNJ5 (3), PITX2 (1), MYH6 (4), ZFHX3 (1), SCN5A (6), TTN (1), HCN4 (7), SCN10A (1)	0.08696	0.44444	1.725e-14	2.505e-13	3
Generalized epilepsy with febrile seizures plus	Rolandic epilepsy	7	6	CPA6 (2), RELN (1), GABRG2 (3), SCN1A (8), SCN1B (7), SCN2A (2), SCN9A (2)	0.12281	0.43750	1.733e-14	2.516e-13	228
Congenital myopathy	Muscular dystrophy	9	4	GMPPB (1), LARGE1 (1), LMNA (1), TTN (3), DYSF (3), FKRP (1), MYH2 (2), SELENON (4), CHKB (1)	0.10227	0.20000	1.844e-14	2.676e-13	
Azoospermia	Premature ovarian failure	10	7	REC8 (1), C14orf39 (4), MSH5 (5), FANCM (3), BRDT (1), FAHD1 (1), HFM1 (4), KASH5 (3), MCM8 (5), MEIOB (3)	0.07299	0.31250	1.862e-14	2.700e-13	11
Corneal dystrophy	Fuchs endothelial dystrophy	7	5	AGBL1 (6), COL8A2 (6), TCF4 (7), LAMB1 (1), ZEB1 (7), SLC4A11 (6), KANK4 (1)	0.14286	0.30435	1.983e-14	2.874e-13	87
Male infertility	Testicular azoospermia	10	3	NR5A1 (2), DMRT1 (2), MCM9 (2), MOV10L1 (1), AXDND1 (1), PNLDC1 (1), SHOC1 (1), M1AP (1), TEX11 (1), ZMYND15 (1)	0.07407	0.30303	2.019e-14	2.924e-13	11
Congenital heart septal defect	Ventricular septal defect	7	7	GATA4 (4), PCSK5 (2), EPO (2), NKX2-5 (4), CITED2 (5), YES1 (2), SALL4 (2)	0.12963	0.38889	2.066e-14	2.989e-13	41
Fatty liver, alcoholic	Hyperinsulinism	10	9	INS (2), MTTP (1), LEP (2), TNF (2), GPX1 (2), CCL2 (2), COL3A1 (2), UCP2 (2), LEPR (2), NEIL1 (2)	0.08403	0.23810	2.191e-14	3.169e-13	
Carotid artery disease	Ischemic heart disease	13	5	TP53 (2), APOE (2), AGTR1 (1), HMOX1 (2), TLR4 (1), MMP1 (1), MMP9 (1), CCL2 (2), LTA (1), MRAS (2), GNB3 (1), FGB (1)	0.06103	0.23636	2.211e-14	3.196e-13	
nonsyndromic genetic hearing loss	Usher syndrome	10	10	PCDH15 (7), CDH23 (8), MYO7A (7), COCH (2), CIB2 (5), ESPN (6), OTOA (2), SERPINB6 (2), USH1C (7), WHRN (6)	0.08547	0.22727	2.230e-14	3.221e-13	31
Anemia	Thrombocytopenia	14	10	EPO (3), MTHFR (2), TNF (2), CSF2 (2), ASPG (2), HBS1L (1), CSF3 (2), GATA1 (3), IFNA2 (1), IL3 (2), ITPA (2), JAK2 (1)	0.06667	0.16667	2.271e-14	3.277e-13	
46,xy gonadal dysgenesis	46,xy partial gonadal dysgenesis	5	3	NR5A1 (2), SOX9 (1), SRY (1), DHX37 (2), MAP3K1 (2)	0.26316	0.62500	2.329e-14	3.359e-13	149
Anemia	Hematologic disease	8	3	H2BC4 (1), HFE (1), MTHFR (2), HBS1L (1), H1-2 (1), HOXD13 (2), JAK2 (1), NUP98 (2)	0.08421	0.44444	2.333e-14	3.363e-13	24
Astrocytoma	Attention deficit hyperactivity disorder	62	8	ZFPM2 (1), TEAD1 (1), ANO3 (1), BRAF (2), C6orf118 (1), CADM2 (1), CTNNA2 (1), CTNNA3 (1), DAB1 (1), EFL1 (1), ESR2 (2), ESRRB (1)	0.04610	0.20598	2.350e-14	3.385e-13	
Congenital contractural arachnodactyly	familial thoracic aortic aneurysm and aortic dissection	6	6	FBN1 (3), TGFB2 (2), BGN (2), LOX (2), MFAP5 (2), TGFB3 (2)	0.16667	0.50000	2.355e-14	3.390e-13	50
Henoch schoenlein purpura	Pemphigus vulgaris	5	2	HLA-DQA1 (2), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (1), HLA-DQB1 (2)	0.23810	0.71429	2.492e-14	3.585e-13	1
Memory disorders	Seizures	12	11	CHRNA7 (2), INS (2), HTR1A (2), ACHE (2), IL1B (2), NPY (2), SIGMAR1 (1), DRD2 (2), SLC17A7 (2), CNR1 (2), CHRM1 (2), GABRA5 (2)	0.06630	0.23529	2.529e-14	3.636e-13	
Chronic obstructive pulmonary disease	Sepsis	8	8	NOS3 (2), TLR4 (2), TNF (2), IL6 (2), TGFB1 (2), MMP9 (2), NOS2 (2), MIF (2)	0.11594	0.23529	2.603e-14	3.739e-13	
Hypoglycemia	Maturity-onset diabetes of the young	6	6	INS (3), ABCC8 (5), HNF4A (2), KCNJ11 (2), GCK (2), HNF1A (3)	0.17143	0.46154	2.724e-14	3.911e-13	35
Combined pituitary hormone deficiency	Panhypopituitarism	6	5	HESX1 (3), OTX2 (3), LHX3 (1), LHX4 (3), POU1F1 (3), PROP1 (4)	0.12766	0.66667	2.752e-14	3.947e-13	
Thrombophilia	Thrombosis	8	8	FGA (3), F2 (6), PLAT (4), F5 (6), PROC (5), PROS1 (5), THBD (3), F9 (6)	0.11429	0.25000	2.753e-14	3.947e-13	36
Retinal detachment	Retinopathy	9	3	WWOX (1), ABCA4 (2), ANKRD7 (1), COL22A1 (1), CFH (2), CLSTN2 (1), EYS (3), FAT3 (1), RDH5 (1)	0.10000	0.19565	2.760e-14	3.955e-13	238
Corneal dystrophy	Polymorphous corneal dystrophy	5	5	COL8A2 (5), OVOL2 (3), VSX1 (2), GRHL2 (3), ZEB1 (5)	0.15152	1.00000	2.794e-14	3.998e-13	87
Corneal dystrophy	Posterior polymorphous corneal dystrophy	5	5	COL8A2 (6), OVOL2 (6), VSX1 (5), GRHL2 (5), ZEB1 (6)	0.15152	1.00000	2.794e-14	3.998e-13	87
Anterior segment dysgenesis	Axenfeld-rieger syndrome	5	4	COL4A1 (2), FOXC1 (7), PAX6 (4), PITX2 (7), IFT140 (1)	0.20000	0.83333	2.798e-14	4.001e-13	82
Aortic dissection	Ehlers-danlos syndrome	7	6	FBN1 (2), SMAD3 (2), COL1A1 (7), COL3A1 (7), TGFBR1 (2), TGFBR2 (2), LOX (1)	0.12500	0.38889	2.930e-14	4.188e-13	
Hemophagocytic lymphohistiocytosis	Hereditary hemophagocytic lymphohistiocytosis	4	4	PRF1 (7), UNC13D (8), STX11 (6), STXBP2 (7)	0.44444	1.00000	2.990e-14	4.259e-13	96
Aicardi goutieres syndrome	Interferonopathy	4	4	RNASEH2A (3), RNASEH2B (3), RNASEH2C (2), SAMHD1 (3)	0.44444	1.00000	2.990e-14	4.259e-13	379
Bare lymphocyte syndrome	MHC class II deficiency	4	4	CIITA (3), RFX5 (2), RFXANK (2), RFXAP (2)	0.44444	1.00000	2.990e-14	4.259e-13	128
Carney-stratakis syndrome	Paraganglioma	4	4	SDHB (6), SDHD (6), SDHA (2), SDHC (6)	0.44444	1.00000	2.990e-14	4.259e-13	78
Carney-stratakis syndrome	Pheochromocytoma/paraganglioma syndrome	4	4	SDHB (6), SDHD (5), SDHA (5), SDHC (6)	0.44444	1.00000	2.990e-14	4.259e-13	78
Mood disorder	Psychotic disorders	21	6	TBX1 (1), ANK3 (1), TCF4 (2), BDNF (2), GLUL (1), MAOA (1), HTR1B (2), TGFB1 (1), CACNA1C (1), CRHR1 (1), TRPM2 (1), NR3C1 (2)	0.05211	0.16800	3.046e-14	4.336e-13	
Male infertility	Male infertility single gene azoospermia	14	13	NR5A1 (4), DMRT1 (2), TDRD9 (2), CFTR (3), DNAH10 (2), MOV10L1 (2), SYCP3 (2), PIWIL2 (2), HORMAD1 (2), PNLDC1 (2), SHOC1 (2), M1AP (1)	0.06829	0.13084	3.072e-14	4.371e-13	11
46,xx ovotesticular disorder of sex development	46,xx sex reversal	4	4	NR5A1 (2), SOX3 (2), SOX9 (2), SRY (2)	0.50000	0.80000	3.203e-14	4.551e-13	183
Cockayne syndrome	Uv-sensitive syndrome	4	2	ERCC8 (8), NDUFAF2 (1), ERCC6 (7), PGBD3 (1)	0.50000	0.80000	3.203e-14	4.551e-13	352
Chloracne	Thalassemia	5	5	HBA1 (2), HBA2 (2), GSTM1 (2), HBB (2), HBD (2)	0.14706	1.00000	3.292e-14	4.675e-13	24
Dravet syndrome	Generalized epilepsy with febrile seizures plus	5	5	GABRG2 (4), SCN1A (8), SCN1B (7), SCN2A (2), SCN9A (2)	0.25000	0.62500	3.387e-14	4.807e-13	228
Dermatologic disorder	Pulmonary fibrosis	12	10	HSPA1B (2), IL1A (1), IL1B (2), TNF (2), IL6 (2), PTGS2 (1), IL1RN (2), CXCL2 (2), CCL4 (2), OGG1 (2), PTX3 (2), SKIL (2)	0.07317	0.17647	3.548e-14	5.032e-13	
Male infertility globozoospermia	Spermatogenic failure	7	7	PPP2R3C (4), SPATA16 (4), SEPTIN4 (2), DPY19L2 (6), ZPBP (4), CATSPERT (3), GGN (4)	0.05983	0.77778	3.598e-14	5.100e-13	
Spastic ataxia	Spinocerebellar ataxia	12	11	CACNA1A (6), CACNA1G (5), DAB1 (4), SETX (6), ITPR1 (7), SYNE1 (3), PIK3R5 (2), AFG3L2 (6), CCDC88C (6), TUBB6 (1), ELOVL4 (5), PUM1 (3)	0.07362	0.17143	3.612e-14	5.115e-13	92
Nervous system disease	Seizures	13	13	FOXG1 (2), APOE (2), KCNQ2 (5), SCN8A (5), ACHE (2), BDNF (2), NOS1 (2), NGF (2), FOS (2), CHRNA4 (2), PTGS2 (2), ABCC2 (2)	0.06599	0.19118	3.702e-14	5.240e-13	
Congenital hydrocephalus	Hydrocephalus	6	6	MPDZ (5), SMARCC1 (2), WDR81 (3), L1CAM (4), CCDC88C (5), TRIM71 (4)	0.17143	0.42857	3.705e-14	5.241e-13	298
Fatty liver	Hepatomegaly	11	10	LDLR (2), LEP (2), NFE2L2 (2), PPARA (2), AKT1 (2), IFNA2 (1), CYP1B1 (2), MET (2), NR1H4 (2), NR1I2 (2), LEPR (2)	0.07801	0.18966	3.828e-14	5.412e-13	
Anxiety disorder	Memory disorders	12	12	APP (2), HTR1A (2), HTR7 (2), MAPT (2), NPY (2), DRD2 (3), SLC6A3 (2), SLC6A4 (3), CNR1 (2), MAGI2 (2), MDK (2), MIF (2)	0.06452	0.23529	3.862e-14	5.456e-13	
Aortic disease	Marfan syndrome	7	7	CAT (2), SOD2 (2), SOD1 (2), MMP9 (2), MMP2 (2), LAMC1 (2), SMAD4 (2)	0.12500	0.36842	3.896e-14	5.500e-13	
Iga nephropathy	Sclerosing cholangitis	23	6	ANKRD55 (1), ETS1 (1), HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (1), IKZF1 (1), TTC33 (1), PLAU (2), OSMR (1), HLA-DQB1 (2), FCGR2A (1)	0.05596	0.11330	3.980e-14	5.615e-13	14
Lymphocytic b-cell leukemia	Lymphocytic leukemia	10	10	FARP2 (2), BCL2 (2), IRF4 (2), SP140 (2), ACOXL (2), QPCT (2), LEF1 (2), BMF (2), C11orf21 (2), PRKD2 (2)	0.07143	0.29412	4.089e-14	5.765e-13	89
Polymyositis	Sjogren syndrome	8	6	DGKQ (3), THSD7A (1), TNF (2), IL6 (2), HLA-DQB1 (2), PTPN22 (2), STAT4 (3), BLK (1)	0.09302	0.36364	4.132e-14	5.819e-13	22
Myeloid leukemia	Promyelocytic leukemia	12	5	WT1 (1), CEBPA (3), IDH2 (1), NRAS (1), DNMT3A (2), IDH1 (1), KIT (2), AQP9 (1), PTPN11 (1), FLT3 (2), NPM1 (2), CD44 (1)	0.06349	0.24000	4.132e-14	5.819e-13	89
Stroke	Venous thromboembolism	34	10	WWOX (1), SH2B3 (2), FGA (3), AGBL1 (1), FADS1 (1), FADS2 (1), GRK5 (1), KALRN (1), LRAT (1), NALF1 (1), PLCG2 (1), F2 (3)	0.05380	0.10526	4.349e-14	6.120e-13	34
Mitochondrial dna depletion syndrome	Progressive external ophthalmoplegia	6	6	RRM2B (7), POLG2 (6), POLG (7), TWNK (5), SLC25A4 (7), TK2 (7)	0.16216	0.46154	4.368e-14	6.143e-13	
Corneal disease	Corneal dystrophy	6	2	COL5A1 (1), TCF4 (6), RXRA (1), COL24A1 (1), LAMB1 (1), KRT3 (4)	0.15385	0.50000	4.488e-14	6.308e-13	
Distal hereditary motor neuropathy	Motor neuron disease	9	7	SETX (3), TRPV4 (3), DCTN1 (7), DYNC1H1 (2), NEFL (1), PLEKHG5 (3), GARS1 (6), MPZ (1), IGHMBP2 (2)	0.09091	0.25000	4.751e-14	6.673e-13	13
Osteopetrosis	Osteosclerosis	5	5	TNFRSF11A (6), LRP5 (6), CLCN7 (7), TCIRG1 (8), TNFSF11 (5)	0.23810	0.62500	4.798e-14	6.735e-13	265
Brain ischemia	Necrosis	10	10	CAT (2), IL1B (2), MTHFR (2), SOD2 (2), TNF (2), IL6 (2), SOD1 (2), IL17A (2), NOS2 (2), IL1RN (2)	0.08621	0.18182	4.803e-14	6.738e-13	63
Atrophic macular degeneration	C3 glomerulonephritis	6	6	CFHR1 (3), CFI (3), C3 (3), CFB (3), CFH (4), CFHR5 (6)	0.10169	0.75000	4.888e-14	6.849e-13	
Atrophic macular degeneration	Mesangiocapillary glomerulonephritis	6	6	CFHR1 (2), CFI (2), C3 (2), CFB (2), CFH (2), CFHR5 (2)	0.10169	0.75000	4.888e-14	6.849e-13	
Fatty liver	Hyperinsulinism	10	10	INS (2), MTTP (2), LEP (2), TNF (2), GPX1 (2), CCL2 (2), COL3A1 (2), UCP2 (3), LEPR (2), NEIL1 (2)	0.07937	0.23810	4.934e-14	6.908e-13	
Lymphoma	Multiple myeloma	12	3	HLA-DQA1 (1), HLA-DRB1 (1), BCL2 (2), CSF2 (1), EPHX1 (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (2), CSF3 (1), IFNA2 (1), CDKN2A (2), TNFSF8 (1)	0.06486	0.22642	4.965e-14	6.947e-13	
Anencephaly	Aprosencephaly	4	2	TRIM36 (4), MTRR (1), NUAK2 (3), RPGRIP1L (1)	0.40000	1.00000	5.381e-14	7.525e-13	155
Hypertriglyceridemia	Lipoprotein lipase deficiency	7	6	APOB (3), LPL (5), ZPR1 (2), GCKR (3), CETP (2), TDRD15 (1), APOA5 (4)	0.13462	0.25000	5.767e-14	8.059e-13	57
Bone fracture	Osteoporosis	13	3	AXIN1 (1), RSPO3 (1), CYP19A1 (3), ESR1 (2), WNT16 (1), CCDC170 (1), SOX6 (1), SEM1 (1), DOK6 (1), LRP5 (4), AQP1 (1), SFRP4 (1)	0.06436	0.19118	5.844e-14	8.161e-13	
Hyperinsulinism	monogenic diabetes	6	6	INS (3), ABCC8 (5), HNF4A (4), KCNJ11 (4), GCK (4), HNF1A (4)	0.12766	0.60000	5.909e-14	8.247e-13	35
Fatty liver, alcoholic	Ventricular dysfunction	10	10	INS (2), NFE2L2 (2), SOD2 (2), TLR4 (2), TNF (2), AKT1 (2), SIRT1 (2), ADRB2 (2), LEPR (2), SIRT6 (2)	0.08130	0.21739	5.962e-14	8.316e-13	
Noonan syndrome	noonan syndrome with multiple lentigines	5	5	BRAF (7), NRAS (7), RAF1 (7), PTPN11 (7), MAP2K1 (6)	0.13158	1.00000	6.047e-14	8.429e-13	49
Leber congenital amaurosis	Senior-loken syndrome	7	6	NPHP4 (6), NPHP3 (3), NPHP1 (5), CEP290 (7), WDR19 (5), IQCB1 (6), RLIG1 (1)	0.08861	0.53846	6.080e-14	8.469e-13	
Chronic obstructive pulmonary disease	Cystic fibrosis	9	8	SERPINA1 (3), NOS3 (2), AGER (1), HMOX1 (4), TNF (2), EPHX1 (2), TGFB1 (5), CYP1A1 (2), MIF (3)	0.09375	0.21429	6.103e-14	8.496e-13	133
Brain injuries	Status epilepticus	11	11	VEGFA (2), BDNF (2), EPO (2), TNF (2), FOS (2), PTGS2 (2), CCL2 (2), NOS2 (2), IL1RN (2), JUN (2), BECN1 (2)	0.07857	0.15714	6.172e-14	8.588e-13	63
Polydactyly	Syndactyly	7	6	LMBR1 (4), GLI3 (4), TULP1 (1), HOXD13 (5), SHH (2), IQCE (4), CIBAR1 (5)	0.12727	0.31818	6.277e-14	8.727e-13	
Ankylosing spondylitis	Iga nephropathy	26	11	ACE (1), ANKRD55 (1), ETS1 (1), HLA-DQA1 (2), HLA-DRB1 (2), IKZF1 (1), TENM3 (1), TTC33 (1), PLAU (2), TAP2 (2), OSMR (1), HLA-DQB1 (2)	0.05295	0.12808	6.598e-14	9.168e-13	14
Nuclear cataract	Posterior polar cataract	5	5	EPHA2 (3), CRYAB (2), MIP (3), CRYBA1 (2), GJA3 (3)	0.22727	0.62500	6.642e-14	9.223e-13	51
Maturity-onset diabetes of the young (mody)	Neonatal diabetes mellitus	6	5	INS (5), INS-IGF2 (1), ABCC8 (3), KCNJ11 (6), GCK (6), PDX1 (6)	0.17143	0.35294	6.685e-14	9.272e-13	35
Cutaneous mastocytosis	Systemic mastocytosis	6	1	HBE1 (1), HBG2 (1), KIT (3), ABCA2 (1), OR51B5 (1), OR51Q1 (1)	0.17143	0.35294	6.685e-14	9.272e-13	237
Congenital hyperinsulinism	Hypoglycemia	5	4	ABCC8 (4), HNF4A (2), KCNJ11 (2), GCK (2), GLUD1 (1)	0.17241	0.83333	6.711e-14	9.302e-13	35
Cystic kidney disease	Meckel-gruber syndrome	7	7	CC2D2A (5), RPGRIP1L (5), TMEM67 (6), CEP290 (5), TMEM216 (6), MKS1 (7), TCTN2 (5)	0.13208	0.26923	6.719e-14	9.307e-13	8
Epiphyseal dysplasia	Stickler syndrome	5	4	COL2A1 (7), COL1A1 (1), COL9A1 (8), COL9A2 (7), COL9A3 (8)	0.25000	0.50000	6.981e-14	9.664e-13	308
Hyperthyroidism	Toxic nodular goiter	7	0	NFIA (1), NRG1 (1), TG (1), FAM227B (1), PRDM11 (1), FGF7 (1), MICOS10 (1)	0.10938	0.41176	7.181e-14	9.935e-13	
Apert syndrome	Cryptophthalmos syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.44444	0.80000	7.473e-14	1.033e-12	90
Apert syndrome	Cyclocephaly	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.44444	0.80000	7.473e-14	1.033e-12	90
Psoriatic arthritis	Stevens-johnson syndrome	11	4	HLA-C (2), TAP2 (1), POU5F1 (1), HLA-DQB1 (2), HLA-B (4), MICA (1), MUC22 (1), NOS2 (3), SLC22A23 (1), HLA-F (1), BAG6 (1)	0.07801	0.15068	7.499e-14	1.035e-12	
Congenital muscular dystrophy	Congenital muscular dystrophy due to dystroglycanopathy	5	5	GMPPB (3), LARGE1 (2), CRPPA (3), POMGNT1 (3), FKRP (4)	0.20000	0.71429	7.657e-14	1.057e-12	40
Psoriatic arthritis	Toxic epidermal necrolysis	9	2	HLA-C (2), TAP2 (1), POU5F1 (1), HLA-B (2), MICA (1), MUC22 (1), SLC22A23 (1), HLA-F (1), BAG6 (1)	0.08824	0.24324	8.128e-14	1.121e-12	
Diabetes microvascular complications	Diabetic angiopathies	5	5	VEGFA (3), EPO (3), PON1 (2), SOD2 (3), IL1RN (3)	0.16667	0.83333	8.170e-14	1.125e-12	
Diabetes microvascular complications	Diabetic peripheral angiopathy	5	5	VEGFA (3), EPO (3), PON1 (2), SOD2 (3), IL1RN (3)	0.16667	0.83333	8.170e-14	1.125e-12	
Congenital aneurysm of ascending aorta	familial thoracic aortic aneurysm and aortic dissection	5	5	FBN1 (2), FOXE3 (2), MYH11 (2), LOX (2), MYLK (2)	0.25000	0.41667	8.678e-14	1.195e-12	50
Sick sinus syndrome	Wolff-parkinson-white syndrome	7	4	PITX2 (2), MYH6 (3), LMNA (1), SCN5A (6), TTN (2), ANK2 (1), SNTA1 (1)	0.11111	0.38889	8.814e-14	1.213e-12	3
Congenital malformation syndromes predominantly affecting facial appearance	Goldenhar syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.36364	1.00000	8.969e-14	1.230e-12	90
Goldenhar syndrome	Warburg micro syndrome	4	4	RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5)	0.36364	1.00000	8.969e-14	1.230e-12	90
Erythrokeratodermia variabilis	Greither disease	4	4	GJA1 (5), GJB3 (7), PERP (4), GJB4 (6)	0.36364	1.00000	8.969e-14	1.230e-12	107
Deafness, x-linked	X-linked nonsyndromic hearing loss	4	4	PRPS1 (4), POU3F4 (2), SMPX (4), COL4A6 (4)	0.36364	1.00000	8.969e-14	1.230e-12	
Carbohydrate metabolism disease	Intestinal disaccharide malabsorption	4	0	HK1 (1), GCK (1), G6PC2 (1), SPC25 (1)	0.36364	1.00000	8.969e-14	1.230e-12	
Mesothelioma	Ovarian neoplasms	16	0	TP53 (1), EGFR (1), SOD2 (1), IL6 (1), CTNNB1 (1), CXCL8 (1), MET (1), CDH1 (1), SLC2A1 (1), NME2 (1), BAP1 (1), FGF1 (1)	0.06130	0.12214	9.069e-14	1.243e-12	4
Cone-rod dystrophy	Retinal degeneration	9	9	PDE6B (2), CRX (8), RPE65 (2), NMNAT1 (3), RHO (2), RPGR (4), RAX2 (5), UBAP1L (3), RDH12 (2)	0.08738	0.24324	9.238e-14	1.265e-12	7
Congenital cartilage disorder	Stickler syndrome	6	5	COL2A1 (7), COL11A1 (6), COL11A2 (1), COL9A1 (8), COL9A2 (7), COL9A3 (7)	0.15385	0.42857	9.539e-14	1.306e-12	
Oral cavity carcinoma	Oropharyngeal cancer	8	0	LAMC3 (1), TFAP2A (1), HLA-DQB1 (1), HLA-B (1), DYSF (1), ADH1B (1), ABTB3 (1), TRIM5 (1)	0.09877	0.28571	9.571e-14	1.309e-12	
Berardinelli-seip congenital lipodystrophy	Congenital generalized lipodystrophy	4	4	CAV1 (4), BSCL2 (4), CAVIN1 (4), AGPAT2 (5)	0.44444	0.66667	9.608e-14	1.313e-12	79
Microphthalmos	Nanophthalmos	6	6	PRSS56 (3), SOX2 (2), OTX2 (2), RAX (2), ALDH1A3 (2), MFRP (6)	0.13953	0.50000	9.634e-14	1.316e-12	52
Cortical development malformation	Microcephaly	9	8	TUBG1 (2), DYNC1H1 (2), AKT3 (3), TBCD (2), WDR62 (6), KIF5C (2), TUBA1A (1), KIFBP (2), KIF2A (2)	0.07200	0.33333	1.038e-13	1.418e-12	
Glioblastoma	Obesity	101	18	RUNX1 (2), ARHGAP24 (1), ARHGEF28 (1), C6orf118 (1), CCDC33 (1), CDH4 (1), CDKAL1 (2), CSMD1 (1), CTNNA3 (1), DCC (1), DDX18 (1), DGKI (1)	0.05938	0.16639	1.077e-13	1.470e-12	
Cognition disorder	Memory disorders	9	9	COMT (2), APP (2), PSEN1 (2), IGF2 (2), MAPT (2), DRD2 (2), SLC6A4 (2), CNR1 (2), HTR2A (2)	0.09278	0.17647	1.083e-13	1.476e-12	
Premature ovarian failure	Spermatogenic failure	14	13	NR5A1 (5), STAG3 (5), XRCC2 (4), C14orf39 (4), MSH5 (5), FANCM (4), DNAH6 (3), SPATA22 (2), BRDT (4), FAHD1 (1), KASH5 (3), MEIOB (4)	0.06512	0.12281	1.106e-13	1.508e-12	11
genetic developmental and epileptic encephalopathy	Rolandic epilepsy	8	8	WWOX (2), SZT2 (2), SCN1A (2), SCN1B (2), KCNQ3 (2), CSTB (2), PLCB1 (2), SPTAN1 (2)	0.10526	0.22222	1.142e-13	1.555e-12	
Congenital neutropenia	Neutropenia	7	2	CLPB (1), CSF3R (1), ELANE (3), SRP19 (1), SEC61A1 (1), JAGN1 (3), SRP68 (1)	0.10294	0.41176	1.229e-13	1.672e-12	211
Glioblastoma	Major depressive disorder	142	45	PAFAH1B1 (1), HNF1B (2), TERT (2), DOCK6 (1), ANK3 (1), ANO4 (1), C6orf118 (1), CACNA2D3 (1), CDH19 (1), CDH4 (1), CDKAL1 (1), CSMD1 (1)	0.05853	0.23394	1.229e-13	1.672e-12	
Conduction disorder of the heart	Hereditary bundle branch system defect	5	0	TRPM4 (1), DSP (1), CASQ2 (1), SCN5A (1), SCN1B (1)	0.18519	0.71429	1.236e-13	1.680e-12	3
Lung neoplasms	Renal cell carcinoma	20	1	HNF1B (1), PTEN (1), TP53 (1), GSTP1 (1), GSTT1 (1), IL6 (1), GSTM1 (1), GPX1 (1), DNMT3A (1), DAPK1 (1), MET (5), ERBB2 (1)	0.05348	0.14388	1.301e-13	1.768e-12	4
Discordant ventriculoarterial connection	Transposition of the great arteries	4	1	MTHFR (1), SLC19A1 (1), MED13L (1), GDF1 (2)	0.33333	1.00000	1.409e-13	1.914e-12	56
Bone neoplasms	Connective tissue neoplasm	5	0	LRP1B (1), KIF13A (1), THSD7B (1), C10orf143 (1), USP20 (1)	0.20000	0.62500	1.577e-13	2.140e-12	
Osteochondrodysplasias	Stickler syndrome	6	5	COL2A1 (7), COL11A1 (6), COL11A2 (1), COL9A1 (8), COL9A2 (7), COL9A3 (7)	0.14286	0.42857	1.777e-13	2.410e-12	
Congenital muscular dystrophy	Congenital myopathy	7	7	GMPPB (3), LARGE1 (2), RYR1 (4), LMNA (4), DYSF (3), ITGA7 (3), FKRP (4)	0.11475	0.31818	1.842e-13	2.496e-12	
Centronuclear myopathy	Congenital myopathy	7	6	ACTA1 (7), RYR1 (5), TTN (4), TPM3 (4), CHRNA1 (1), CACNA1S (4), CCDC78 (6)	0.11475	0.31818	1.842e-13	2.496e-12	377
Immune system disease	Immune system disorder	5	5	ARG1 (2), EIF2AK4 (2), POMC (2), TRPM7 (2), CNR2 (2)	0.10638	1.00000	1.902e-13	2.574e-12	
Cortical development malformation	Cortical dysplasia with other brain malformations	6	6	TUBG1 (3), DYNC1H1 (3), KIF5C (3), TUBB2B (3), KIF2A (3), TUBGCP2 (2)	0.15385	0.35294	1.956e-13	2.646e-12	144
Corneal dystrophy	Eye disease	9	1	ANTXR1 (1), COL5A1 (1), TCF4 (6), RXRA (1), COL24A1 (1), LAMB1 (1), CHRNB1 (1), GDPD5 (1), KANK4 (1)	0.07627	0.28125	1.989e-13	2.689e-12	
Amphetamine or sympathomimetic abuse	Seizures	13	13	ACHE (2), BDNF (2), NOS1 (2), PDYN (2), ADORA2A (2), DRD1 (2), DRD2 (2), DRD3 (2), FOS (2), GABRG2 (2), GAD2 (2), HTR1B (2)	0.06311	0.16883	2.022e-13	2.733e-12	
Dravet syndrome	Febrile convulsion	5	5	GABRG2 (7), SCN1A (5), SCN1B (3), SCN2A (2), SCN9A (2)	0.19231	0.62500	2.040e-13	2.755e-12	228
monogenic diabetes	Neonatal diabetes mellitus	5	5	INS (2), ABCC8 (2), KCNJ11 (2), GCK (2), PDX1 (2)	0.21739	0.50000	2.156e-13	2.910e-12	35
Focal cortical dysplasia	Tuberous sclerosis complex	4	2	PKD1 (1), TSC2 (7), TSC1 (7), NTHL1 (1)	0.40000	0.66667	2.242e-13	3.021e-12	48
Congenital generalized lipodystrophy	Generalized lipodystrophy	4	4	CAV1 (5), BSCL2 (4), CAVIN1 (3), AGPAT2 (4)	0.40000	0.66667	2.242e-13	3.021e-12	79
Hodgkin lymphoma	Lymphoid leukemia	9	0	GRAMD1B (1), HLA-DQB1 (1), EXOC2 (1), IRF4 (1), SP140 (1), IRF8 (1), ACOXL (1), BMF (1), MEGF11 (1)	0.06870	0.32143	2.328e-13	3.137e-12	89
Anxiety disorder	Cannabis abuse	15	6	FOXP2 (1), GABRA2 (2), PDE4B (1), DRD2 (3), DRD4 (2), SLC6A4 (3), FURIN (1), NCAM1 (1), TMPRSS5 (1), BTN1A1 (1), METTL15 (1), PLCL2 (1)	0.06048	0.12931	2.635e-13	3.547e-12	2
Hyperuricemic nephropathy	Tubulointerstitial kidney disease	4	3	HNF1B (1), REN (3), UMOD (3), SEC61A1 (5)	0.36364	0.80000	2.690e-13	3.617e-12	97
Frontal lobe epilepsy	Nocturnal frontal lobe epilepsy	4	4	CHRNB2 (5), CRH (2), CHRNA4 (5), KCNT1 (5)	0.36364	0.80000	2.690e-13	3.617e-12	423
Seasonal allergic rhinitis	Upper respiratory tract disorder	8	0	SMAD3 (1), IL18R1 (1), IL7R (1), NFKB1 (1), IL1RL1 (1), IL33 (1), RANBP6 (1), TSLP (1)	0.07080	0.40000	2.811e-13	3.777e-12	103
Rhinitis	Status epilepticus	10	9	CAT (2), BDNF (2), HMOX1 (2), TNF (2), PTGS2 (2), IL1RN (2), ABCB1 (1), CCR2 (2), CCR3 (2), GRIA2 (2)	0.07937	0.15385	2.837e-13	3.810e-12	
Cystic kidney disease	Nephronophthisis	7	6	CC2D2A (1), RPGRIP1L (2), TMEM67 (4), CEP290 (2), SDCCAG8 (2), ANKS6 (7), INVS (7)	0.11667	0.26923	2.910e-13	3.906e-12	8
Constitutional mismatch repair deficiency	Muir-torre syndrome	4	4	MSH2 (7), MSH6 (7), PMS2 (7), MLH1 (8)	0.28571	1.00000	3.054e-13	4.091e-12	39
Constitutional mismatch repair deficiency	mismatch repair cancer syndrome 1	4	4	MSH2 (6), MSH6 (7), PMS2 (6), MLH1 (6)	0.28571	1.00000	3.054e-13	4.091e-12	39
Waardenburg syndrome	Waardenburg-shah syndrome	4	4	EDNRB (8), MITF (7), EDN3 (8), SOX10 (8)	0.28571	1.00000	3.054e-13	4.091e-12	186
Kidney cancer	Uterine fibroid	17	0	RTEL1 (1), TERT (1), TP53 (1), EXO1 (1), TTC28 (1), POT1 (1), CDKN2C (1), STMN3 (1), MLLT10 (1), ATM (1), C11orf65 (1), RBPMS (1)	0.04582	0.20988	3.081e-13	4.125e-12	
Colonic neoplasms	Renal cell carcinoma	18	1	HNF1B (1), TP53 (1), TET2 (2), VEGFA (1), SOD2 (1), RELA (1), PTGS2 (1), DNMT1 (1), ALOX5 (1), TNFSF10 (1), ERBB2 (1), HSPB1 (1)	0.05538	0.12950	3.111e-13	4.163e-12	4
Amyotrophic lateral sclerosis	Schizophrenia	108	66	TP53 (2), GFAP (2), ALCAM (1), ALDH1A2 (2), ANK3 (2), APOE (2), CLU (2), CTNND2 (2), DAO (5), DISC1 (4), DOCK1 (1), ERBB4 (7)	0.03905	0.32530	3.150e-13	4.212e-12	
Colobomatous microphthalmia	Nanophthalmos	5	0	SOX2 (1), SIX6 (1), OTX2 (1), RAX (1), ALDH1A3 (1)	0.21739	0.41667	3.287e-13	4.393e-12	52
Inflammatory skin disease	Sclerosing cholangitis	15	0	IFIH1 (1), EMSY (1), TNIP1 (1), ERAP1 (1), FAP (1), GRHL3 (1), IFNLR1 (1), IL23R (1), KCNH7 (1), LCE3A (1), LCE3B (1), NOS2 (1)	0.05137	0.19737	3.298e-13	4.405e-12	14
Azoospermia	Testicular azoospermia	7	0	REC8 (1), C14orf39 (1), MSH5 (1), DMC1 (1), GCNA (1), MOV10L1 (1), TERB1 (1)	0.11864	0.21875	3.408e-13	4.548e-12	11
Brain ischemia	Diabetic angiopathies	8	8	CASP3 (2), MTHFR (2), SOD2 (2), TNF (2), PLAT (2), RELA (2), ALB (2), IL1RN (2)	0.08791	0.28571	3.491e-13	4.654e-12	63
Brain ischemia	Diabetic peripheral angiopathy	8	8	CASP3 (2), MTHFR (2), SOD2 (2), TNF (2), PLAT (2), RELA (2), ALB (2), IL1RN (2)	0.08791	0.28571	3.491e-13	4.654e-12	63
Peripheral arterial disease	Stroke	24	9	WWOX (1), SH2B3 (2), DLGAP2 (1), HDAC9 (2), PTPRG (1), SMARCA4 (1), TCF7L2 (1), LPL (1), MTHFR (2), ATXN2 (1), IL6 (2), TWIST1 (1)	0.05031	0.13559	3.493e-13	4.654e-12	
Cone dystrophy	Stargardt disease	7	4	ABCA4 (4), CNGB3 (3), PRPH2 (2), CRB1 (1), KCNV2 (3), CERKL (1), RHO (1)	0.11667	0.25000	3.541e-13	4.715e-12	7
Congenital malformation syndromes associated with short stature	Noonan syndrome	5	5	BRAF (7), PTPN11 (7), LZTR1 (7), RIT1 (6), SOS2 (6)	0.12821	0.83333	3.622e-13	4.820e-12	49
Myositis	Polyarticular juvenile idiopathic arthritis	8	3	UBE2L3 (1), HLA-DQB1 (2), PHTF1 (1), PTPN22 (3), RSBN1 (1), TYK2 (1), STAT4 (3), PRR5L (1)	0.09302	0.25000	3.678e-13	4.892e-12	
Sebaceous gland disease	Seborrheic dermatitis	6	0	HERC2 (1), RALY (1), IRF4 (1), TYR (1), MC1R (1), SLC45A2 (1)	0.13043	0.42857	3.723e-13	4.943e-12	263
Hemorrhage	Thrombosis	7	0	PLAU (1), F2 (1), PLAT (1), BDKRB2 (1), VKORC1 (1), P2RY12 (1), PODXL (1)	0.11111	0.29167	3.723e-13	4.943e-12	36
Blood coagulation disorder	Thrombosis	7	7	F2 (3), HMOX1 (2), SERPINC1 (2), F5 (3), PROC (2), VKORC1 (2), F10 (2)	0.11111	0.29167	3.723e-13	4.943e-12	36
Myopia	Retinitis pigmentosa	22	20	COL2A1 (2), CACNA1F (2), COL11A1 (2), COL18A1 (1), PDE6B (6), LRPAP1 (5), EFEMP1 (2), SIX6 (2), P4HA2 (5), RDH5 (2), NDP (2), VPS13B (2)	0.04701	0.16541	3.879e-13	5.146e-12	
Complement component deficiency	Macular degeneration	7	7	CFI (4), C2 (5), C3 (7), CFB (5), SERPING1 (3), CFH (4), C9 (6)	0.08974	0.41176	4.019e-13	5.330e-12	
Epiphyseal dysplasia	Marshall syndrome	5	5	SLC26A2 (3), COL2A1 (3), COL9A1 (5), COL9A2 (5), COL9A3 (5)	0.20000	0.50000	4.049e-13	5.366e-12	308
Congenital hypothyroidism	Congenital hypothyroidism due to absence of thyroid gland	4	3	TSHR (3), NKX2-5 (2), PAX8 (2), SLC26A4 (1)	0.26667	1.00000	4.275e-13	5.659e-12	102
Digenic hemochromatosis	Hemochromatosis	4	4	TFR2 (7), HFE (7), HAMP (7), HJV (7)	0.26667	1.00000	4.275e-13	5.659e-12	148
Cavernous malformations of cns	Cerebral cavernous malformation	4	4	KRIT1 (6), PDCD10 (7), PIK3CA (4), CCM2 (7)	0.36364	0.66667	4.483e-13	5.927e-12	249
Apert syndrome	Goldenhar syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.33333	0.80000	4.483e-13	5.927e-12	90
Brain ischemia	Dermatologic disorder	10	9	HSPA1B (1), IL1A (2), IL1B (2), MTHFR (2), SOD2 (2), TNF (2), IL6 (2), PTGS2 (2), IL1RN (2), CCL4 (2)	0.07752	0.14706	4.559e-13	6.020e-12	
Nervous system disease	Status epilepticus	10	10	SCN8A (2), BDNF (2), CASP3 (2), NOS1 (2), TNF (2), NGF (2), FOS (2), PTGS2 (2), ABCB1 (2), ABCC2 (2)	0.07752	0.14706	4.559e-13	6.020e-12	
Ischemic stroke	Venous thrombosis	7	7	PLAU (2), F2 (2), MTHFR (2), PLAT (2), F5 (2), PROC (2), F7 (2)	0.10448	0.31818	4.676e-13	6.171e-12	36
Brain ischemia	Thyroid neoplasms	9	9	TP53 (2), IL1B (2), TNF (2), IL6 (2), MAPK1 (2), PTGS2 (2), HIF1A (2), CCL2 (2), CXCL10 (2)	0.08333	0.19565	4.692e-13	6.188e-12	
Cardiac arrest	Catecholaminergic polymorphic ventricular tachycardia	6	2	DSG2 (1), TRPM4 (1), DSP (1), RYR2 (7), SCN5A (1), ANK2 (3)	0.14634	0.30000	4.750e-13	6.261e-12	3
Psoriasis vulgaris	Seborrheic dermatitis	8	0	IRF1 (1), IL23R (1), IL2RA (1), TYK2 (1), ZMIZ1 (1), POLI (1), CARD14 (1), FAM8A1 (1)	0.09524	0.21622	4.753e-13	6.261e-12	
familial thoracic aortic aneurysm and aortic dissection	Loeys-dietz syndrome	5	5	FBN1 (2), TGFB2 (7), MYH11 (2), MYLK (2), TGFB3 (6)	0.20833	0.41667	4.779e-13	6.292e-12	50
Bile duct disorder	Cholelithiasis	6	0	MAML3 (1), PRKAG2 (1), ADCY9 (1), GREP1 (1), NPM2 (1), PKMYT1 (1)	0.04286	1.00000	4.855e-13	6.388e-12	
Myasthenia gravis	Thyroid disease	8	3	FAM76B (1), HLA-DQA1 (2), ATXN2 (1), HLA-DQB1 (2), CEP43 (1), CTLA4 (1), PTPN22 (2), RNF39 (1)	0.09524	0.21053	5.124e-13	6.738e-12	
Cleft lip and palate	Complete unilateral cleft lip	6	0	TP63 (1), IRF6 (1), BMP4 (1), MSX1 (1), CDH1 (1), NECTIN1 (1)	0.13043	0.40000	5.193e-13	6.824e-12	136
Cryptophthalmos syndrome	Cyclocephaly	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.36364	0.57143	5.229e-13	6.860e-12	90
Follicular thyroid cancer	Nonmedullary thyroid cancer	4	4	NRAS (3), HRAS (3), SRGAP1 (2), MINPP1 (2)	0.36364	0.57143	5.229e-13	6.860e-12	17
Uveomeningoencephalitic syndrome	Vogt-koyanagi-harada disease	4	4	HLA-DQA1 (2), HLA-DRB1 (3), FAS (2), PTPN22 (2)	0.36364	0.57143	5.229e-13	6.860e-12	1
Congenital neurologic anomalies	Hereditary spastic paraplegia	13	2	ABCD1 (1), RNASEH2B (2), ALDH18A1 (1), AP4M1 (1), AP4B1 (1), AP4E1 (1), POLG (1), CYP2U1 (2), AMPD2 (1), ATL1 (1), GJC2 (1), ERLIN2 (1)	0.06373	0.12871	5.294e-13	6.941e-12	
Mitochondrial myopathy	Progressive external ophthalmoplegia	5	5	RRM2B (4), IL1A (2), IL1B (2), SLC25A4 (3), TK2 (3)	0.20833	0.38462	5.338e-13	6.994e-12	26
Colitis	Sepsis	7	7	IL10 (2), IL1B (2), TNF (2), IL6 (2), IFNG (2), NOS2 (2), MIF (2)	0.11475	0.21212	5.430e-13	7.110e-12	43
Dental caries	Squamous cell carcinoma	42	6	RTEL1 (1), ABT1 (1), EPHX2 (1), GLIS3 (1), GRIN2B (1), H4C8 (1), HLA-DQA1 (1), HLA-DRB5 (1), MOG (1), MTMR3 (1), PBX3 (1), RARB (2)	0.04290	0.18182	5.446e-13	7.127e-12	21
Brain ischemia	Glomerulonephritis	11	11	F2 (2), IL1B (2), MTHFR (2), TNF (2), IL6 (2), ALB (2), CCL2 (2), IL1RN (2), IL18 (2), CCL3 (2), CCL4 (2)	0.07006	0.15714	5.518e-13	7.217e-12	
Anorexia nervosa	Irritable bowel syndrome	19	0	RERE (1), ABT1 (1), DCC (1), ERBB4 (1), MPHOSPH9 (1), NALF1 (1), PTPRF (1), SORCS3 (1), TCF4 (1), CRB1 (1), RBMS1 (1), FAF1 (1)	0.05177	0.14179	5.751e-13	7.517e-12	
Congenital malformation syndromes predominantly affecting facial appearance	Mobius syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.25000	1.00000	5.830e-13	7.602e-12	90
Mobius syndrome	Warburg micro syndrome	4	4	RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5)	0.25000	1.00000	5.830e-13	7.602e-12	90
Cleft eyelid	Coloboma	4	2	PAX6 (4), FZD5 (1), ABCB6 (1), SALL2 (2)	0.25000	1.00000	5.830e-13	7.602e-12	25
Cleft lip and cleft of alveolar process of maxilla	Cleft lip and palate	4	0	TP63 (1), IRF6 (1), MSX1 (1), NECTIN1 (1)	0.25000	1.00000	5.830e-13	7.602e-12	
Ectodermal dysplasia	Hypohidrotic ectodermal dysplasia	5	5	EDAR (6), WNT10A (4), EDARADD (7), KDF1 (7), CSTB (3)	0.14286	0.71429	5.849e-13	7.623e-12	76
Maturity-onset diabetes of the young (mody)	Transient neonatal diabetes mellitus	5	5	HNF1B (2), INS (5), ABCC8 (6), KCNJ11 (7), GCK (6)	0.17857	0.55556	5.859e-13	7.626e-12	35
Aniridia	Anterior segment dysgenesis	5	5	ELP4 (5), FOXC1 (5), FOXD3 (2), PAX6 (4), PITX2 (5)	0.17857	0.55556	5.859e-13	7.626e-12	82
Aortic valve disease	Thoracic aortic aneurysm and aortic dissection	9	7	FBN1 (5), NOTCH1 (4), COL5A1 (1), TGFB2 (5), COL1A1 (2), COL3A1 (2), LOX (6), ROBO4 (5), GATA5 (1)	0.07895	0.21951	5.969e-13	7.765e-12	
Ventricular dysfunction	Ventricular remodeling	7	0	AGT (1), NFE2L2 (1), AKT1 (1), CTNNB1 (1), NPPB (1), MYH6 (1), SIRT6 (1)	0.10769	0.28000	6.079e-13	7.900e-12	372
Congenital ear anomaly	Meniere disease	8	0	PCDH15 (1), ADGRV1 (1), MYO6 (1), CDH23 (1), MYO7A (1), TBCEL-TECTA (1), TECTA (1), C10orf105 (1)	0.08791	0.25806	6.080e-13	7.900e-12	31
Colorectal neoplasms	Endometrial neoplasms	20	4	ARID1A (1), ESR2 (1), MSH6 (1), SULT2B1 (1), TET2 (2), MTHFR (1), PPARG (2), AKT1 (2), RNF43 (1), CXCL8 (1), GUCY1A2 (2), TNFSF10 (1)	0.04950	0.15152	6.117e-13	7.944e-12	
Brain ischemia	Status epilepticus	10	10	CAT (2), BDNF (2), CASP3 (2), TNF (2), PTGS2 (2), CCL2 (2), NOS2 (2), IL1RN (2), JUN (2), CCL3 (2)	0.07634	0.14286	6.176e-13	8.016e-12	63
Cleft lip	Cleft lip and palate	6	2	TP63 (2), IRF6 (2), BMP4 (1), MSX1 (1), CDH1 (1), NECTIN1 (1)	0.12766	0.40000	6.194e-13	8.035e-12	136
Amnesia	Hypotension	7	7	IL1A (2), IL2 (2), AVP (2), IL6 (2), PDYN (2), POMC (2), TAC1 (2)	0.08861	0.38889	6.555e-13	8.497e-12	66
Myasthenic syndrome	Pena-shokeir syndrome 	8	7	SCN4A (3), RAPSN (3), RYR1 (1), CHRNG (2), CHRND (3), MUSK (3), SLC18A3 (3), DOK7 (2)	0.09412	0.20000	6.819e-13	8.834e-12	
Atopic dermatitis	Contact dermatitis	10	10	GSTP1 (2), TLR4 (2), AHR (3), CYP1A1 (2), CXCR3 (2), IL18 (2), FLG (4), GLB1 (2), CLDN1 (2), S100A8 (2)	0.07576	0.15152	6.847e-13	8.866e-12	46
Ductal carcinoma	Intraductal noninfiltrating carcinoma	4	0	CA9 (1), HIF1A (1), STAT5A (1), SLC2A1 (1)	0.30769	0.80000	7.044e-13	9.116e-12	99
Androgenetic alopecia	Prostate cancer	66	12	KANSL1 (1), RREB1 (1), SRD5A2 (2), CCDC91 (1), CDKAL1 (1), EBF1 (1), FMN1 (1), GLI2 (1), ILRUN (1), L3MBTL3 (1), LINC02210-CRHR1 (1), NSF (1)	0.05057	0.16176	7.216e-13	9.332e-12	21
Fatty liver, alcoholic	Hepatomegaly	10	10	LDLR (2), LEP (2), NFE2L2 (2), PPARA (2), AKT1 (2), CYP1B1 (2), MET (2), NR1H4 (2), NR1I2 (2), LEPR (2)	0.07407	0.17241	7.230e-13	9.345e-12	
Deficiency anemia	Vitamin deficiency disorder	5	0	FUT2 (1), TCN2 (1), CUBN (1), TCN1 (1), OOSP3 (1)	0.17241	0.55556	7.399e-13	9.558e-12	100
Lymphatic malformation	Non-immune hydrops fetalis	6	6	EPHB4 (4), PIEZO1 (5), THSD1 (4), ANGPT2 (4), CALCRL (4), FLT4 (5)	0.11321	0.46154	7.443e-13	9.610e-12	
Gonadal dysgenesis	Xx gonadal dysgenesis syndrome	5	1	LARS2 (1), TWNK (1), HSD17B4 (2), ERAL1 (1), HARS2 (1)	0.15625	0.62500	7.606e-13	9.814e-12	
Ichthyosis	Xeroderma	4	0	GJB2 (1), PNPLA1 (1), KRT2 (1), SUPV3L1 (1)	0.23529	1.00000	7.773e-13	1.002e-11	
Bartter syndrome	Gitelman syndrome	4	3	CLCNKB (6), SLC12A1 (6), CASR (1), SLC12A3 (5)	0.33333	0.66667	8.068e-13	1.040e-11	410
Bone fragility with contractures, arterial rupture, and deafness	Osteoporosis	11	11	GORAB (2), SERPINF1 (2), COL1A1 (3), COL1A2 (3), WNT1 (5), LRP5 (4), COPB2 (5), IFITM5 (2), P4HB (2), PLS3 (2), SP7 (2)	0.05946	0.22449	8.144e-13	1.048e-11	127
Osteoporosis	Osteoporosis-pseudoglioma syndrome	11	11	GORAB (2), SERPINF1 (2), COL1A1 (3), COL1A2 (3), WNT1 (5), LRP5 (6), COPB2 (5), IFITM5 (2), P4HB (2), PLS3 (2), SP7 (2)	0.05946	0.22449	8.144e-13	1.048e-11	127
Fanconi anemia	Hereditary breast and ovarian cancer syndrome	6	6	RAD51 (5), PALB2 (7), BRCA2 (8), BRIP1 (7), BRCA1 (7), RAD51C (7)	0.12245	0.40000	8.685e-13	1.117e-11	39
Congenital heart defects	Lung disease	11	7	IRX1 (2), VEGFA (2), GSTP1 (1), GSTT1 (1), GSTM1 (1), HIF1A (2), IRX5 (2), MEFV (1), STRA6 (2), EDNRA (2), AFF4 (2)	0.06832	0.15714	8.694e-13	1.118e-11	
Hyperlipoproteinemia	Lipoprotein lipase deficiency	7	7	APOB (3), APOE (6), LDLR (3), LPL (7), CETP (2), PCSK9 (2), APOA5 (6)	0.10938	0.23333	8.939e-13	1.149e-11	57
Anophthalmia/microphthalmia-esophageal atresia syndrome	Anterior segment dysgenesis	6	4	PITX3 (4), BMP4 (2), ELP4 (1), PAX6 (3), PITX2 (4), PTCH1 (1)	0.13953	0.26087	9.494e-13	1.219e-11	
Allergic contact dermatitis	Hypersensitivity	10	10	SPP1 (2), IL10 (2), IL4 (2), TNF (2), IFNG (2), CYP1A1 (2), CCR2 (2), IL18 (2), CCR1 (2), CCL19 (2)	0.07463	0.14286	9.570e-13	1.228e-11	46
Macrothrombocytopenia	Platelet-type bleeding disorder	5	5	ITGB3 (6), ITGA2B (6), TPM4 (5), ACTN1 (6), GFI1B (6)	0.18519	0.45455	9.888e-13	1.268e-11	67
Male infertility round headed spermatozoa	Spermatogenic failure	6	5	SPATA16 (4), SEPTIN4 (2), DPY19L2 (5), ZPBP (3), GGN (3), C2CD6 (1)	0.05172	0.85714	1.003e-12	1.286e-11	
Global developmental delay	syndromic intellectual disability	13	13	BPTF (2), AUTS2 (2), CDK13 (2), CRADD (2), KMT2C (2), RAC1 (2), NSD2 (2), KAT6A (2), ASXL3 (2), CHD4 (2), MED13L (2), NAA15 (2)	0.03299	0.36111	1.013e-12	1.298e-11	
Capillary malformation-arteriovenous malformation	Klippel-trenaunay syndrome	4	2	GNAQ (3), RASA1 (6), PIK3CA (1), CCNH (1)	0.33333	0.57143	1.046e-12	1.339e-11	65
Hereditary corneal dystrophy	Polymorphous corneal dystrophy	4	0	COL8A2 (1), OVOL2 (1), VSX1 (1), ZEB1 (1)	0.28571	0.80000	1.057e-12	1.351e-11	87
Hereditary corneal dystrophy	Posterior polymorphous corneal dystrophy	4	4	COL8A2 (4), OVOL2 (4), VSX1 (4), ZEB1 (4)	0.28571	0.80000	1.057e-12	1.351e-11	87
Thyroid cancer	Toxic nodular goiter	6	1	TERT (1), NRG1 (1), TG (2), SLK (1), STN1 (1), MBIP (1)	0.12766	0.35294	1.067e-12	1.364e-11	
Osteochondrodysplasias	Spondyloepiphyseal dysplasia	6	6	HSPG2 (2), COL2A1 (8), TRPV4 (3), GLB1 (2), CHST3 (6), TRAPPC2 (6)	0.13043	0.33333	1.092e-12	1.395e-11	44
Hereditary bundle branch system defect	Ventricular fibrillation	5	1	TRPM4 (1), DSP (1), NKX2-5 (1), SCN5A (3), SCN1B (1)	0.12821	0.71429	1.095e-12	1.398e-11	3
Maturity-onset diabetes of the young	Neonatal diabetes mellitus	5	5	INS (2), ABCC8 (2), KCNJ11 (2), GCK (2), PDX1 (2)	0.19231	0.38462	1.099e-12	1.402e-11	35
Anxiety disorder	Bipolar depression	14	11	SERPINA1 (2), DISC1 (2), HTR1A (1), NTRK2 (2), PDE4B (2), THSD7A (2), GAD1 (1), SLC6A4 (3), CACNA1C (2), NCAM1 (2), ADCY2 (2), ITIH1 (2)	0.05882	0.13333	1.107e-12	1.412e-11	2
Hereditary hearing loss	Usher syndrome	8	8	PCDH15 (7), CDH23 (8), MYO7A (7), COCH (2), ESPN (5), OTOA (2), USH1C (7), WHRN (6)	0.09195	0.18182	1.114e-12	1.420e-11	31
Hashimoto disease	Immune system disease	7	1	FAM76B (1), HLA-DQA1 (1), HLA-DRB1 (1), ATXN2 (1), CTLA4 (3), PTPN22 (1), STAT4 (1)	0.10448	0.25926	1.118e-12	1.424e-11	
Saldino-noonan syndrome	Short-rib thoracic dysplasia	5	5	NEK1 (4), DYNC2H1 (2), DYNC2I1 (4), DYNC2I2 (5), DYNLT2B (4)	0.17241	0.50000	1.171e-12	1.489e-11	19
Craniodiaphyseal dysplasia	Short-rib thoracic dysplasia	5	5	IFT43 (5), IFT140 (4), IFT52 (6), WDR19 (6), WDR35 (6)	0.17241	0.50000	1.171e-12	1.489e-11	19
Auditory neuropathy	Nonsyndromic hearing loss	9	7	OTOF (1), DIAPH3 (8), DIAPH1 (3), MYO7A (4), TWNK (1), WFS1 (3), SLC17A8 (3), TBC1D24 (3), ATP11A (4)	0.06383	0.29032	1.171e-12	1.489e-11	
Crest syndrome	Myositis	7	2	DGKQ (1), HLA-DRB1 (2), ATG5 (1), IRF5 (2), STAT4 (1), TNPO3 (1), DNASE1L3 (1)	0.09211	0.33333	1.195e-12	1.519e-11	22
Junctional epidermolysis bullosa	Weber-cockayne syndrome	4	1	KRT5 (1), ITGB4 (6), GALK1 (1), KRT14 (1)	0.21053	1.00000	1.307e-12	1.660e-11	
Congenital ear anomaly	Congenital sensorineural hearing loss	5	0	MYO15A (1), USH2A (1), TBCEL-TECTA (1), MITF (1), TECTA (1)	0.14286	0.62500	1.314e-12	1.669e-11	
Congenital hyperinsulinism	monogenic diabetes	4	4	ABCC8 (3), HNF4A (3), KCNJ11 (3), GCK (3)	0.30769	0.66667	1.345e-12	1.704e-11	35
46,xx ovotesticular disorder of sex development	Swyer syndrome	4	3	NR5A1 (1), DMRT1 (2), SOX9 (2), SRY (2)	0.30769	0.66667	1.345e-12	1.704e-11	
Laryngeal carcinoma	Laryngeal neoplasms	4	0	ATXN10 (1), PRKG1 (1), WNT7B (1), SH3BP4 (1)	0.30769	0.66667	1.345e-12	1.704e-11	
Differentiated thyroid carcinoma	Thyroid neoplasms	8	8	TERT (3), BRAF (2), RET (2), PPARG (2), KRAS (2), HRAS (2), TPR (2), NCOA4 (2)	0.09091	0.17391	1.374e-12	1.741e-11	
Nervous system disease	Peripheral nervous system disease	9	9	DPYD (2), GFAP (2), NGF (2), PNPLA6 (2), CSF3 (2), ABCB1 (2), CYP2C8 (2), CASP9 (2), ATF3 (2)	0.07965	0.16981	1.402e-12	1.775e-11	304
Myasthenia gravis	Uveomeningoencephalitic syndrome	5	4	HLA-DQA1 (2), HLA-DRB1 (2), FAS (2), HLA-DQB1 (1), PTPN22 (2)	0.12195	0.71429	1.457e-12	1.842e-11	1
Achromatopsia	Cone dystrophy	5	5	CNGA3 (3), CNGB3 (4), GNAT2 (4), PDE6C (7), PDE6H (2)	0.12195	0.71429	1.457e-12	1.842e-11	
Saldino-noonan syndrome	Short rib dysplasia-polydactyly syndrome	5	5	NEK1 (3), DYNC2H1 (4), DYNC2I1 (4), DYNC2I2 (4), DYNLT2B (2)	0.16667	0.50000	1.478e-12	1.868e-11	19
Diabetic cardiomyopathy	Ventricular dysfunction	6	6	INS (2), ATP2A2 (2), AGT (2), IGF2R (2), TNF (2), LEPR (2)	0.10909	0.42857	1.494e-12	1.887e-11	
Autoimmune hepatitis	Glomerulonephritis	9	7	HLA-DQA1 (1), F2 (1), IL10 (2), IL2 (2), IL6 (2), IFNG (2), CCL2 (2), IL18 (2), CCL5 (2)	0.07087	0.23684	1.499e-12	1.892e-11	46
Melas syndrome	Progressive external ophthalmoplegia	5	5	IL1A (2), IL1B (2), SOD2 (2), SOD1 (2), POLG (3)	0.18519	0.38462	1.521e-12	1.919e-11	26
Congenital impairment of spermatozoa motility	Teratozoospermia	6	0	ARMC2 (1), CFAP43 (1), DNAH1 (1), AKAP4 (1), TTC21A (1), USP26 (1)	0.13333	0.26087	1.584e-12	1.997e-11	11
Ischemic stroke	Thrombosis	8	8	PLAU (2), F2 (2), TNF (2), PLAT (2), F5 (2), PROC (2), PROS1 (2), THBD (2)	0.08989	0.17778	1.600e-12	2.016e-11	36
Lacrimoauriculodentodigital syndrome	Ladd syndrome	3	3	FGFR3 (5), FGF10 (6), FGFR2 (7)	0.75000	1.00000	1.644e-12	2.037e-11	321
Glucocorticoid deficiency with achalasia	Triple a syndrome	3	3	TRAPPC11 (2), AAAS (4), GMPPA (2)	0.75000	1.00000	1.644e-12	2.037e-11	383
Hearing loss with stapes fixation	X-linked hearing loss with perilymphatic gusher	3	3	GJB6 (3), GJB2 (3), POU3F4 (4)	0.75000	1.00000	1.644e-12	2.037e-11	68
Hemoglobin barts fetalis syndrome	Hemoglobin h disease	3	2	HBA1 (5), HBA2 (5), ATRX (1)	0.75000	1.00000	1.644e-12	2.037e-11	24
Hemoglobin m disease	Unstable hemoglobin disease	3	3	HBA1 (5), HBA2 (4), HBB (5)	0.75000	1.00000	1.644e-12	2.037e-11	24
Hepatic methionine adenosyltransferase deficiency	S-adenosylhomocysteine hydrolase deficiency	3	2	AHCY (2), MAT1A (2), GNMT (1)	0.75000	1.00000	1.644e-12	2.037e-11	112
Hereditary xerocytosis	Xerocytosis	3	3	PIEZO1 (7), SLC4A1 (2), KCNN4 (6)	0.75000	1.00000	1.644e-12	2.037e-11	431
Hypercalcemic tumoral calcinosis	Hyperphosphatemic tumoral calcinosis	3	3	KL (2), GALNT3 (2), FGF23 (2)	0.75000	1.00000	1.644e-12	2.037e-11	351
Eichsfeld type congenital muscular dystrophy	Rigid spine muscular dystrophy	3	3	ACTA1 (3), HMGCS1 (2), SELENON (4)	0.75000	1.00000	1.644e-12	2.037e-11	
Familial polycythemia	Polycythemia, primary familial and congenital	3	3	SH2B3 (2), EPOR (4), JAK2 (2)	0.75000	1.00000	1.644e-12	2.037e-11	
Congenital fibrinogen deficiency	Congenital hypofibrinogenemia	3	3	FGA (3), FGG (3), FGB (3)	0.75000	1.00000	1.644e-12	2.037e-11	156
Congenital fibrinogen deficiency	Hypofibrinogenemia	3	3	FGA (5), FGG (4), FGB (4)	0.75000	1.00000	1.644e-12	2.037e-11	156
Congenital hypofibrinogenemia	Hypofibrinogenemia	3	3	FGA (3), FGG (3), FGB (3)	0.75000	1.00000	1.644e-12	2.037e-11	156
11p11.2 deletion syndrome	Potocki-shaffer syndrome	3	3	ALX4 (2), EXT2 (2), PHF21A (3)	0.75000	1.00000	1.644e-12	2.037e-11	108
3mc syndrome	Malpuech facial clefting syndrome	3	3	COLEC10 (3), COLEC11 (3), MASP1 (3)	0.75000	1.00000	1.644e-12	2.037e-11	292
Afibrinogenemia	Congenital afibrinogenemia	3	3	FGA (3), FGG (3), FGB (3)	0.75000	1.00000	1.644e-12	2.037e-11	156
Afibrinogenemia	Congenital fibrinogen deficiency	3	3	FGA (4), FGG (4), FGB (4)	0.75000	1.00000	1.644e-12	2.037e-11	156
Afibrinogenemia	Congenital hypofibrinogenemia	3	3	FGA (2), FGG (2), FGB (2)	0.75000	1.00000	1.644e-12	2.037e-11	156
Afibrinogenemia	Hypofibrinogenemia	3	3	FGA (3), FGG (3), FGB (3)	0.75000	1.00000	1.644e-12	2.037e-11	156
Alpha thalassemia	Hemoglobin barts fetalis syndrome	3	2	HBA1 (3), HBA2 (3), ATRX (1)	0.75000	1.00000	1.644e-12	2.037e-11	24
Alpha thalassemia	Hemoglobin h disease	3	2	HBA1 (5), HBA2 (6), ATRX (1)	0.75000	1.00000	1.644e-12	2.037e-11	24
Cholesterol ester transfer protein deficiency	Hyperalphalipoproteinemia	3	3	SCARB1 (2), APOC3 (3), CETP (6)	0.75000	1.00000	1.644e-12	2.037e-11	
Benign mucous membrane pemphigoid	Benign mucous membrane pemphigoid with ocular involvement	3	1	HLA-DRB1 (1), HLA-DQB1 (1), PTGER3 (2)	0.75000	1.00000	1.644e-12	2.037e-11	1
Cold-induced sweating syndrome	Crisponi syndrome	3	3	KLHL7 (4), CLCF1 (6), CRLF1 (7)	0.75000	1.00000	1.644e-12	2.037e-11	343
collagen 6-related myopathy	Collagen vi muscular dystrophy	3	3	COL6A3 (3), COL6A1 (3), COL6A2 (3)	0.75000	1.00000	1.644e-12	2.037e-11	307
Combined immunodeficiency, enteropathy spectrum	Gastrointestinal defects and immunodeficiency syndrome	3	2	PI4KA (3), MCFD2 (1), TTC7A (4)	0.75000	1.00000	1.644e-12	2.037e-11	269
Congenital afibrinogenemia	Congenital fibrinogen deficiency	3	3	FGA (4), FGG (4), FGB (4)	0.75000	1.00000	1.644e-12	2.037e-11	156
Congenital afibrinogenemia	Congenital hypofibrinogenemia	3	3	FGA (3), FGG (3), FGB (2)	0.75000	1.00000	1.644e-12	2.037e-11	156
Congenital afibrinogenemia	Hypofibrinogenemia	3	3	FGA (5), FGG (4), FGB (4)	0.75000	1.00000	1.644e-12	2.037e-11	156
Amyloidosis	Visceral amyloidosis	4	4	APOA1 (3), FGA (5), LYZ (4), B2M (5)	0.20000	1.00000	1.655e-12	2.048e-11	128
Congenital pain insensitivity	Hereditary sensory and autonomic neuropathy	4	4	NGF (5), SCN11A (6), SCN9A (5), PRDM12 (4)	0.20000	1.00000	1.655e-12	2.048e-11	
Eosinophilia	Respiratory system disease	17	5	EMSY (1), FOXO1 (1), HLA-DQA1 (3), HLA-DRB1 (3), JAZF1 (1), RORA (1), SHARPIN (3), TIMP2 (1), HS3ST4 (1), SMAD3 (1), JAK2 (1), CLEC16A (1)	0.05045	0.15179	1.655e-12	2.048e-11	
Necrosis	Proteinuria	8	0	AGT (1), CTSB (1), FAS (1), POMC (1), SOD1 (1), IFNG (1), IL1RN (1), HAVCR1 (1)	0.08889	0.19048	1.675e-12	2.071e-11	
Nervous system disease	Non-neoplastic peripheral nervous system disease	9	9	DPYD (2), GFAP (2), NGF (2), PNPLA6 (2), CSF3 (2), ABCB1 (2), CYP2C8 (2), CASP9 (2), ATF3 (2)	0.07895	0.16667	1.677e-12	2.072e-11	304
Centronuclear myopathy	Congenital fiber type disproportion myopathy	5	4	ACTA1 (3), MAP3K20 (3), MTM1 (1), RYR1 (3), TPM3 (3)	0.17241	0.45455	1.678e-12	2.073e-11	377
Congenital heart disease	Craniofacial abnormalities	17	17	FGF8 (4), TBX1 (2), UFD1 (2), NOTCH1 (2), FOXP2 (3), TGFB2 (2), RCAN1 (2), PITX2 (2), AHR (3), STRA6 (2), PTCH1 (2), LRP2 (2)	0.05449	0.10897	1.686e-12	2.081e-11	41
Angle closure glaucoma	Primary angle closure glaucoma	5	5	COL11A1 (2), FERMT2 (2), GLIS3 (2), EPDR1 (2), PLEKHA7 (2)	0.18519	0.35714	1.709e-12	2.107e-11	23
Congenital nasopharyngeal atresia	Situs ambiguus	6	0	DNAH5 (1), CCDC39 (1), CCDC40 (1), DNAAF1 (1), DNAAF11 (1), CFAP298 (1)	0.13043	0.28571	1.708e-12	2.107e-11	
Hypotension	Necrosis	9	0	CAT (1), AGT (1), IL1B (1), TNF (1), IL6 (1), POMC (1), SOD1 (1), IFNG (1), CTF1 (1)	0.07895	0.16364	1.738e-12	2.142e-11	
Congenital muscular dystrophy	Myopathy	8	4	CRPPA (3), RYR1 (3), DYSF (1), LAMA2 (1), ITGA7 (3), CAPN3 (1), FKRP (4), COL6A2 (1)	0.06299	0.36364	1.786e-12	2.200e-11	
Dystonia musculorum deformans	Torsion dystonia	4	4	THAP1 (3), TOR1A (2), TUBB4A (3), HPCA (4)	0.30769	0.57143	1.882e-12	2.315e-11	172
Exudative retinopathy	Exudative vitreoretinopathy	4	3	PRSS23 (1), FZD4 (5), RCBTB1 (2), NDP (4)	0.30769	0.57143	1.882e-12	2.315e-11	189
Genetic torsion dystonia	Torsion dystonia	4	3	THAP1 (3), TOR1A (1), TUBB4A (3), HPCA (3)	0.30769	0.57143	1.882e-12	2.315e-11	172
Arthrogryposis multiplex congenita	Sheldon-hall syndrome	5	5	MYH3 (2), TPM2 (3), NALCN (2), TNNI2 (2), TNNT3 (3)	0.06849	1.00000	1.941e-12	2.386e-11	
Hypertensive nephropathy	Urolithiasis	7	0	PRKAG2 (1), WDR72 (1), FTO (1), HBB (1), PDILT (1), OVOL1 (1), SLC22A2 (1)	0.08434	0.35000	1.964e-12	2.413e-11	
Panhypopituitarism	Pituitary stalk interruption syndrome	7	1	HESX1 (1), PROKR2 (1), CHD7 (1), WDR11 (1), NSMF (1), KISS1R (1), LHX4 (2)	0.10294	0.22581	1.984e-12	2.435e-11	58
Diffuse cutaneous systemic sclerosis	Scleroderma	6	5	TAP2 (1), CAV1 (2), IRF5 (4), STAT4 (2), TGFBR1 (2), CCN2 (2)	0.13043	0.26087	2.014e-12	2.471e-11	22
Irritable bowel syndrome	Post-traumatic stress disorder	17	0	BLTP1 (1), ABT1 (1), DCC (1), FOXP2 (1), HMGN4 (1), SORCS3 (1), TCF4 (1), CD40 (1), FAM120A (1), LRFN5 (1), NCAM1 (1), PCLO (1)	0.05296	0.12687	2.043e-12	2.506e-11	2
B-cell acute lymphoblastic leukemia	Systemic sclerosis	11	2	ARHGAP31 (1), IRF1 (1), CCR6 (2), GSDMB (1), NFKB1 (1), ZPBP2 (1), STAT4 (2), IKZF3 (1), GLS (1), NAB1 (1), GRB10 (1)	0.06180	0.18333	2.055e-12	2.519e-11	
Platelet-type bleeding disorder	Thrombasthenia	4	4	ITGB3 (6), ITGA2 (2), ITGA2B (6), RASGRP2 (7)	0.19048	1.00000	2.069e-12	2.535e-11	67
Focal glomerulosclerosis	Glomerulonephritis	10	5	WT1 (2), COL4A4 (2), AGT (2), LAMB2 (1), SERPINE1 (1), APOL1 (2), PLCE1 (1), INF2 (1), MYH9 (1), NPHS1 (2)	0.06897	0.17544	2.070e-12	2.535e-11	
Hoyeraal hreidarsson syndrome	Telomere-related pulmonary fibrosis and/or bone marrow failure	4	4	RTEL1 (7), TERT (7), PARN (7), POT1 (4)	0.30769	0.50000	2.091e-12	2.559e-11	77
Lamellar cataract	Sutural cataract	4	4	BFSP2 (2), CRYGS (2), MIP (2), CRYBA1 (2)	0.28571	0.66667	2.113e-12	2.584e-11	51
Dental caries	Lung cancer	37	3	RTEL1 (1), ABT1 (1), CPNE4 (1), EPHX2 (1), FUT2 (1), H4C8 (1), HLA-DQA1 (1), HLA-DRB5 (1), HMGN4 (1), MOG (1), MSX2 (1), MTMR3 (1)	0.04384	0.16017	2.132e-12	2.606e-11	21
Distal myopathy	Vitelliform macular dystrophy	4	4	BEST1 (4), IMPG1 (4), IMPG2 (4), PRPH2 (4)	0.25000	0.80000	2.136e-12	2.610e-11	310
Osteogenesis imperfecta	Osteoporosis	10	8	SERPINF1 (6), COL1A1 (7), COL1A2 (7), WNT1 (7), LRP5 (4), IFITM5 (6), P4HB (4), PLS3 (1), SP7 (6), PGGHG (1)	0.05682	0.25641	2.163e-12	2.640e-11	127
Congenital ear anomaly	Usher syndrome	7	6	PCDH15 (7), USH2A (7), ADGRV1 (7), CDH23 (8), MYO7A (7), C10orf105 (1), PDZD7 (6)	0.10145	0.22581	2.356e-12	2.875e-11	31
Bone disease	Bone fracture	10	1	AXIN1 (1), FMN2 (1), RSPO3 (1), SUPT3H (1), CYP19A1 (1), ESR1 (3), CCDC170 (1), SEM1 (1), SFRP4 (1), STARD3NL (1)	0.07092	0.14706	2.359e-12	2.877e-11	303
Epilepsy of infancy with migrating focal seizures	West syndrome	5	5	KCNQ2 (2), SCN1A (2), SCN2A (2), PLCB1 (2), PIGA (2)	0.14286	0.55556	2.477e-12	3.018e-11	
Malignant migrating partial seizures of infancy	West syndrome	5	4	KCNQ2 (2), SCN1A (2), SCN2A (1), PLCB1 (2), PIGA (2)	0.14286	0.55556	2.477e-12	3.018e-11	
Immune system disease	Thyroid disease	8	0	FAM76B (1), HLA-DQA1 (1), ATXN2 (1), CEP43 (1), CTLA4 (1), PTPN22 (1), STAT4 (1), RNF39 (1)	0.08696	0.17391	2.678e-12	3.260e-11	
Conduction disorder of the heart	Short qt syndrome	5	3	TRPM4 (1), CACNA1C (3), KCNH2 (5), KCNQ1 (6), SCN5A (1)	0.16129	0.45455	2.707e-12	3.294e-11	
Hemangiosarcoma	Uterine neoplasms	6	0	VEGFA (1), CTNNB1 (1), CSF3 (1), KRAS (1), MYC (1), CCND1 (1)	0.11765	0.33333	2.712e-12	3.299e-11	4
Aplasia of the vermis	Cystic kidney disease	7	0	CC2D2A (1), RPGRIP1L (1), TMEM67 (1), CEP290 (1), TMEM216 (1), MKS1 (1), TCTN2 (1)	0.09459	0.26923	2.723e-12	3.310e-11	8
Myeloid leukemia	Myeloproliferative disorder	11	9	CHEK2 (2), RUNX1 (5), TERT (3), FOXO1 (2), MECOM (2), BCL2 (2), JAK2 (3), DNMT3A (3), BCR (3), GSKIP (1), ATG2B (1)	0.05699	0.20755	2.778e-12	3.375e-11	
Dermatitis	Rhinitis	8	4	EMSY (1), HLA-DQA1 (3), IL4 (2), TNF (1), CAPSL (1), CLEC16A (1), NOD2 (2), IL13 (2)	0.08333	0.21053	2.858e-12	3.470e-11	46
Apert syndrome	Mobius syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.23529	0.80000	2.913e-12	3.535e-11	90
Dejerine-sottas disease	Spinal muscular atrophy	7	4	KIF1B (1), TRPV4 (2), DYNC1H1 (4), HSPB1 (1), PLEKHG5 (2), GARS1 (4), HSPB8 (1)	0.10145	0.18919	3.030e-12	3.675e-11	13
Endometrial cancer	Ovarian epithelial cancer	15	0	HNF1B (1), TERT (1), BCL11A (1), BNC2 (1), MECOM (1), SGCZ (1), DLC1 (1), RSPO1 (1), ABO (1), CCDC170 (1), NCAM2 (1), BABAM1 (1)	0.05455	0.13043	3.061e-12	3.711e-11	
Androgenetic alopecia	Breast cancer	69	0	KANSL1 (1), CASZ1 (1), RREB1 (1), PDE4D (1), ARL17B (1), CCDC91 (1), CDKAL1 (1), CUX1 (1), EBF1 (1), ECHDC3 (1), FAR2 (1), GLI2 (1)	0.04908	0.16912	3.073e-12	3.724e-11	21
Mucopolysaccharidosis	Sanfilippo syndrome	4	4	NAGLU (7), SGSH (7), GNS (6), HGSNAT (7)	0.17391	1.00000	3.124e-12	3.781e-11	147
Heterotaxy syndrome	Visceral heterotaxy	4	4	CIROZ (4), LEFTY2 (2), DAW1 (3), CFAP52 (4)	0.17391	1.00000	3.124e-12	3.781e-11	54
Hereditary elliptocytosis	Spherocytosis	4	3	SPTA1 (5), SPTB (4), SLC4A1 (3), OR10Z1 (1)	0.28571	0.57143	3.136e-12	3.789e-11	271
Cyclocephaly	Goldenhar syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.28571	0.57143	3.136e-12	3.789e-11	90
Cryptophthalmos syndrome	Goldenhar syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.28571	0.57143	3.136e-12	3.789e-11	90
Cerebrooculofacioskeletal syndrome	Xeroderma pigmentosum	4	3	ERCC1 (5), ERCC2 (8), BIVM-ERCC5 (1), ERCC5 (7)	0.26667	0.66667	3.169e-12	3.826e-11	
Cerebral hemorrhage	Hemorrhage	6	0	ITGB3 (1), VEGFA (1), PLAU (1), POMC (1), PLAT (1), F7 (1)	0.12500	0.25000	3.378e-12	4.077e-11	36
Disseminated intravascular coagulation	Thrombophilia	5	4	F13A1 (3), F2 (6), PROC (5), TFPI (1), THBD (3)	0.13514	0.55556	3.499e-12	4.221e-11	36
Congestive ophthalmopathy	Graft-versus-host disease	5	2	IL10 (3), IL2 (1), CTLA4 (2), PTPN22 (1), IL1RN (1)	0.16667	0.38462	3.608e-12	4.347e-11	153
Graft-versus-host disease	Myopathic ophthalmopathy	5	2	IL10 (3), IL2 (1), CTLA4 (2), PTPN22 (1), IL1RN (1)	0.16667	0.38462	3.608e-12	4.347e-11	153
Large artery stroke	Peripheral vascular disease	8	0	HDAC9 (1), ATXN2 (1), TWIST1 (1), ABO (1), CELSR2 (1), LPA (1), PSRC1 (1), EDNRA (1)	0.07692	0.24242	3.760e-12	4.528e-11	
Anterior segment dysgenesis	Rieger syndrome	4	2	COL4A1 (1), FOXC1 (5), PITX2 (5), PTCH1 (1)	0.16667	1.00000	3.782e-12	4.552e-11	82
Arthrogryposis	Arthrogryposis multiplex congenita	6	2	COL25A1 (1), CHRNG (2), ECEL1 (1), ERCC6 (2), MYH3 (1), TPM2 (1)	0.07692	0.54545	3.832e-12	4.609e-11	
Charcot-marie-tooth disease, x-linked	Dejerine-sottas disease	5	4	PRPS1 (5), AIFM1 (5), SBF1 (1), GJB1 (7), PDK3 (6)	0.11905	0.62500	3.878e-12	4.658e-11	13
Charcot-marie-tooth disease, x-linked	Hypertrophic neuropathy	5	4	PRPS1 (5), AIFM1 (5), SBF1 (1), GJB1 (7), PDK3 (6)	0.11905	0.62500	3.878e-12	4.658e-11	13
Charcot-marie-tooth disease, x-linked	Roussy-levy syndrome	5	4	PRPS1 (5), AIFM1 (5), SBF1 (1), GJB1 (7), PDK3 (6)	0.11905	0.62500	3.878e-12	4.658e-11	13
Dental caries	Psoriasis	39	4	ABT1 (1), ADGRL2 (1), CTNND2 (1), FUT2 (1), H4C8 (1), HLA-DQA1 (2), HLA-DRB5 (1), HMGN4 (1), MOG (1), OR5V1 (1), ROBO1 (1), SLC17A1 (1)	0.04221	0.16883	3.901e-12	4.683e-11	
Esophageal squamous cell carcinoma	Mouth neoplasms	11	1	TP53 (1), ANXA1 (1), MGMT (1), TNXB (2), SOD2 (1), TPI1 (1), PTGS2 (1), ADH1B (1), CDKN2A (1), SFN (1), SERPINB3 (1)	0.06044	0.17460	3.941e-12	4.728e-11	4
Glomerulonephritis	Proteinuria	9	9	AGT (2), HLA-DQA1 (2), VEGFA (2), FAS (2), POMC (2), ALB (2), IFNG (2), IL1RN (2), NPHS1 (2)	0.06870	0.21429	4.017e-12	4.817e-11	
Focal glomerulosclerosis	Urethral obstruction	7	7	AGT (2), SERPINE1 (2), TGFB1 (2), ACTA2 (2), NOS2 (2), FN1 (2), EDN1 (2)	0.09091	0.26923	4.051e-12	4.855e-11	
Charcot-marie-tooth disease, x-linked	Peroneal muscle atrophy	5	4	PRPS1 (5), AIFM1 (5), SBF1 (1), GJB1 (7), PDK3 (6)	0.11628	0.62500	4.448e-12	5.327e-11	13
Heimler syndrome	Peroxisome biogenesis disorder	4	3	PEX6 (8), GATAD1 (1), PEX1 (6), PEX26 (7)	0.16000	1.00000	4.538e-12	5.433e-11	141
Congenital hyperinsulinism	Maturity-onset diabetes of the young	4	4	ABCC8 (3), HNF4A (2), KCNJ11 (3), GCK (3)	0.25000	0.66667	4.576e-12	5.475e-11	35
Congenital pes cavus	Polyneuropathy	5	0	DYNC1H1 (1), SMC1A (1), GDAP1 (1), BIVM-ERCC5 (1), ERCC5 (1)	0.15625	0.41667	4.636e-12	5.538e-11	
Brain injuries	Colitis	8	8	MPO (2), IL10 (2), IL1B (2), TNF (2), IL6 (2), RELA (2), PTGS2 (2), NOS2 (2)	0.07547	0.24242	4.635e-12	5.538e-11	
Brain injuries	Hemolytic uremic syndrome	8	8	EPO (2), IL1A (2), IL1B (2), TNF (2), IL6 (2), ALB (2), CFB (6), IL1RN (2)	0.07547	0.24242	4.635e-12	5.538e-11	
Congenital neurologic anomalies	Spastic paraplegia	13	9	ABCD1 (1), ALDH18A1 (4), AP4M1 (2), SETBP1 (1), AP4B1 (3), AP4E1 (3), MCOLN1 (1), SMC1A (1), CYP2U1 (4), AMPD2 (4), ATL1 (4), GJC2 (4)	0.05830	0.11304	5.052e-12	6.031e-11	
Chondrodysplasia	Rhizomelic chondrodysplasia punctata	4	4	PEX7 (6), AGPS (6), GNPAT (6), PEX5 (6)	0.21053	0.80000	5.079e-12	6.060e-11	305
Dermatitis	Hypersensitivity	8	8	HLA-DQA1 (3), HLA-DRB1 (2), IL4 (2), TNF (2), HLA-B (3), IL13 (2), ITGB2 (2), DSG1 (2)	0.07921	0.21053	5.299e-12	6.319e-11	46
Leber congenital amaurosis	Retinal degeneration	8	8	PDE6B (2), CRX (6), RPE65 (6), NMNAT1 (6), RPGRIP1L (2), AHI1 (2), RPGR (2), RDH12 (6)	0.07843	0.21622	5.305e-12	6.323e-11	7
Endometriosis	Female infertility	19	14	NR2F2 (2), ESR2 (2), HLA-DRB1 (2), PAX2 (2), RARB (3), CYP19A1 (2), ESR1 (3), IGF1 (3), PRL (2), PAPPA (2), EMX2 (3), SYNE1 (1)	0.04121	0.18447	5.591e-12	6.660e-11	
Dejerine-sottas disease	Motor neuron disease	8	1	TRPV4 (1), DYNC1H1 (1), MFN2 (1), NEFL (1), SH3TC2 (1), PLEKHG5 (1), GARS1 (1), MPZ (3)	0.07843	0.21053	5.961e-12	7.097e-11	13
Congenital anomalies of the kidney and urinary tract	Renal agenesis	6	2	FRAS1 (1), RET (2), ROBO1 (1), TBX18 (1), GREB1L (2), BICC1 (1)	0.09524	0.40000	6.068e-12	7.221e-11	
Anterior segment mesenchymal dysgenesis	Axenfeld-rieger syndrome	4	4	COL4A1 (2), FOXC1 (6), PAX6 (2), PITX2 (6)	0.23529	0.66667	6.406e-12	7.615e-11	82
Arrhythmogenic right ventricular dysplasia	Catecholaminergic polymorphic ventricular tachycardia	5	2	DSG2 (1), PKP2 (2), DSP (1), RYR2 (7), SCN5A (1)	0.16129	0.33333	6.406e-12	7.615e-11	3
Autoimmune polyendocrine syndrome	Bouillaud’s disease	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.60000	1.00000	6.575e-12	7.736e-11	1
3mc syndrome	Craniofacial ulnar renal syndrome	3	3	COLEC10 (2), COLEC11 (2), MASP1 (2)	0.60000	1.00000	6.575e-12	7.736e-11	292
Alport syndrome	Digenic alport syndrome	3	3	COL4A5 (4), COL4A3 (6), COL4A4 (6)	0.60000	1.00000	6.575e-12	7.736e-11	91
Alport syndrome, x-linked	Digenic alport syndrome	3	3	COL4A5 (4), COL4A3 (3), COL4A4 (3)	0.60000	1.00000	6.575e-12	7.736e-11	91
Bouillaud’s disease	Oropharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.60000	1.00000	6.575e-12	7.736e-11	1
Cystine urolithiasis	Cystinuria	3	2	SLC7A9 (8), PREPL (1), SLC3A1 (7)	0.60000	1.00000	6.575e-12	7.736e-11	
Delta-beta thalassemia	Hemoglobin f disease	3	2	HBB (3), HBG2 (1), HBG1 (3)	0.60000	1.00000	6.575e-12	7.736e-11	18
collagen 6-related myopathy	Ullrich congenital muscular dystrophy	3	3	COL6A3 (7), COL6A1 (7), COL6A2 (7)	0.60000	1.00000	6.575e-12	7.736e-11	307
Collagen vi muscular dystrophy	Ullrich congenital muscular dystrophy	3	3	COL6A3 (6), COL6A1 (6), COL6A2 (6)	0.60000	1.00000	6.575e-12	7.736e-11	307
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome	Sengers syndrome	3	3	SLC25A4 (3), AGK (5), TKFC (3)	0.60000	1.00000	6.575e-12	7.736e-11	276
Congenital vertebral-cardiac-renal anomalies syndrome	Vertebral, cardiac, renal, and limb defects syndrome	3	3	KYNU (7), HAAO (7), NADSYN1 (4)	0.60000	1.00000	6.575e-12	7.736e-11	421
Coronary artery vasospasm	Coronary vasospasm	3	3	NOS3 (2), PON1 (2), ARHGAP9 (2)	0.60000	1.00000	6.575e-12	7.736e-11	326
Craniofacial ulnar renal syndrome	Malpuech facial clefting syndrome	3	3	COLEC10 (2), COLEC11 (2), MASP1 (2)	0.60000	1.00000	6.575e-12	7.736e-11	292
Mandibuloacral dysostosis	Mandibuloacral dysplasia	3	3	MTX2 (6), LMNA (6), ZMPSTE24 (7)	0.60000	1.00000	6.575e-12	7.736e-11	83
Hypercalcemic tumoral calcinosis	Tumoral calcinosis	3	3	KL (4), GALNT3 (6), FGF23 (4)	0.60000	1.00000	6.575e-12	7.736e-11	351
Hyperphosphatemic tumoral calcinosis	Tumoral calcinosis	3	3	KL (4), GALNT3 (7), FGF23 (5)	0.60000	1.00000	6.575e-12	7.736e-11	351
Glycinuria with/without oxalate urolithiasis	Hyperglycinuria	3	3	SLC36A2 (5), SLC6A19 (2), SLC6A20 (2)	0.60000	1.00000	6.575e-12	7.736e-11	
Erythromelalgia	Paroxysmal extreme pain disorder	3	1	SCN10A (1), SCN11A (1), SCN9A (6)	0.60000	1.00000	6.575e-12	7.736e-11	171
Amyotrophic lateral sclerosis	Major depressive disorder	88	44	GFAP (2), ALCAM (1), ANK3 (1), APOE (2), CACNA1A (2), CAMTA1 (1), CTNND2 (2), DAO (4), DISC1 (3), ERBB4 (7), GRN (1), INPP4B (1)	0.03991	0.26506	6.555e-12	7.736e-11	
Nasal polyp	Upper respiratory tract disorder	6	0	IL18R1 (1), IL7R (1), IL1RL1 (1), IL33 (1), RANBP6 (1), TSLP (1)	0.11111	0.30000	6.664e-12	7.837e-11	103
Adenoid cystic carcinoma	Urinary bladder neoplasms	13	0	TP53 (1), ARID1A (1), KMT2C (1), CREBBP (1), CDH1 (1), ATM (1), SMC1A (1), KDM6A (1), HRAS (1), EP300 (1), FANCA (1), CCND1 (1)	0.05652	0.13000	7.167e-12	8.424e-11	
Kidney cancer	Myeloproliferative disorder	9	2	TERT (2), TP53 (2), MAD1L1 (1), ATM (1), RBPMS (1), STN1 (1), PMF1 (1), PMF1-BGLAP (1), MYNN (1)	0.07143	0.16981	7.177e-12	8.431e-11	
mismatch repair cancer syndrome 1	Rhabdomyosarcoma	4	4	MSH2 (2), MSH6 (2), PMS2 (3), MLH1 (2)	0.14286	1.00000	7.495e-12	8.796e-11	39
Muir-torre syndrome	Rhabdomyosarcoma	4	3	MSH2 (5), MSH6 (1), PMS2 (3), MLH1 (5)	0.14286	1.00000	7.495e-12	8.796e-11	39
Age-related macular degeneration	Retinopathy	9	6	ABCA4 (3), CFI (4), COL4A4 (1), C2 (3), C3 (3), CETP (1), CFH (3), RDH5 (1), ARMS2 (3)	0.07087	0.17308	7.501e-12	8.797e-11	238
Autoimmune hepatitis	Lupus nephritis	7	4	HLA-DQA1 (2), HLA-DRB1 (1), HLA-DQB1 (2), IFNG (2), CCL2 (2), CTLA4 (1), PDCD1 (1)	0.09459	0.18421	7.871e-12	9.227e-11	
Edema	Hyperalgesia	9	0	TNF (1), IL6 (1), TAC1 (1), PTGS2 (1), KNG1 (1), PTHLH (1), CXCL8 (1), VIP (1), CALCA (1)	0.06923	0.18367	8.091e-12	9.480e-11	66
Jeune thoracic dystrophy	Saldino-noonan syndrome	5	0	NEK1 (1), DYNC2H1 (1), DYNC2I1 (1), DYNC2I2 (1), DYNLT2B (1)	0.12821	0.50000	8.234e-12	9.633e-11	19
Craniodiaphyseal dysplasia	Jeune thoracic dystrophy	5	5	IFT43 (5), IFT140 (2), IFT52 (2), WDR19 (6), WDR35 (6)	0.12821	0.50000	8.234e-12	9.633e-11	19
Hereditary motor and sensory neuropathies	Sensory neuropathy	6	0	WNK1 (1), KIF1A (1), MPZ (1), GDAP1 (1), GJB1 (1), RETREG1 (1)	0.08108	0.46154	8.235e-12	9.633e-11	
Leukemia	Myeloid leukemia	10	3	WT1 (1), CHEK2 (2), ERG (1), JAK2 (3), DNMT3A (3), TNFSF10 (1), AQP9 (1), PTPN11 (1), KMT2A (1), KMT2E (1)	0.05435	0.23256	8.281e-12	9.682e-11	89
Neuroblastoma	Urinary bladder neoplasms	15	2	TERT (1), TP53 (2), ARID1A (1), ESR1 (1), TNF (1), KRAS (1), MMP9 (1), IFNB1 (1), MYC (1), AQP3 (2), ISL1 (1), CDKN2A (1)	0.05376	0.10563	8.686e-12	1.015e-10	4
Ischemic stroke	Thrombophilia	7	7	F2 (6), MTHFR (3), PLAT (4), F5 (6), PROC (5), PROS1 (5), THBD (3)	0.09091	0.21875	9.001e-12	1.051e-10	36
Differentiated thyroid carcinoma	Toxic nodular goiter	6	1	NFIA (1), TERT (2), NRG1 (1), SLK (1), STN1 (1), MBIP (1)	0.09836	0.35294	9.114e-12	1.064e-10	
Myopathy	Neuromuscular disease	9	2	SCN4A (1), ACTA1 (1), RAPSN (2), RYR1 (3), MYH7 (1), TTN (1), MSTO1 (1), EMD (1), GGPS1 (1)	0.06250	0.22500	9.312e-12	1.086e-10	131
Congenital neurologic anomalies	Intellectual disability	11	7	FOXG1 (1), ANK3 (2), AP4M1 (2), CRBN (2), TUSC3 (2), CTNNB1 (3), TMEM67 (1), AP4B1 (2), AP4E1 (2), NALCN (1), TSC2 (1)	0.06077	0.14474	9.445e-12	1.101e-10	6
Anemia	Lymphoma	9	8	MTHFR (2), PON1 (2), CSF2 (2), EPHX1 (2), CSF3 (2), IFNA2 (1), KRAS (2), NRAS (2), TYMS (2)	0.06977	0.16981	1.005e-11	1.171e-10	
Catecholaminergic polymorphic ventricular tachycardia	Paroxysmal familial ventricular fibrillation	4	2	DSP (1), LMNA (1), RYR2 (7), SCN5A (2)	0.18182	0.80000	1.034e-11	1.204e-10	3
Basal ganglia disease	Fahr's disease	4	4	PDGFRB (2), XPR1 (2), PDGFB (2), SLC20A2 (2)	0.23529	0.57143	1.067e-11	1.241e-10	411
Costello syndrome	Epidermal nevus	4	3	KRAS (3), NRAS (5), HRAS (6), LRRC56 (1)	0.23529	0.57143	1.067e-11	1.241e-10	
Hypercalcemia	Osteolysis	4	4	TNF (2), PTHLH (2), TNFRSF11B (2), TNFSF11 (2)	0.23529	0.57143	1.067e-11	1.241e-10	259
Oculocutaneous albinism	Skin hair eye pigmentation variation	4	4	OCA2 (7), SLC45A2 (6), SLC24A5 (4), TYRP1 (4)	0.23529	0.57143	1.067e-11	1.241e-10	302
Non-immune hydrops fetalis	Noonan syndrome	7	6	KRAS (8), SHOC2 (7), PTPN11 (7), LZTR1 (7), HRAS (3), RIT1 (6), LRRC56 (1)	0.09211	0.18919	1.077e-11	1.251e-10	49
Melanocytic nevus	Seborrheic keratosis	5	0	TYR (1), DEF8 (1), CASP8 (1), FLACC1 (1), SLC45A2 (1)	0.13158	0.45455	1.080e-11	1.253e-10	
Congenital ear anomaly	Retinitis pigmentosa-deafness syndrome	5	0	PCDH15 (1), USH2A (1), CDH23 (1), MYO7A (1), C10orf105 (1)	0.13158	0.45455	1.080e-11	1.253e-10	31
Cutaneous squamous cell carcinoma	Erythematosquamous dermatosis	6	0	FOXP1 (1), RALY (1), IRF4 (1), TYR (1), MC1R (1), SLC45A2 (1)	0.10909	0.27273	1.082e-11	1.255e-10	
Cholangiocarcinoma	Nasopharyngeal carcinoma	6	1	PTEN (1), TP53 (3), ARID1A (1), KRAS (1), ERBB2 (1), BAP1 (1)	0.10909	0.27273	1.082e-11	1.255e-10	
monogenic diabetes	Transient neonatal diabetes mellitus	4	4	INS (3), ABCC8 (7), KCNJ11 (6), GCK (3)	0.25000	0.44444	1.128e-11	1.307e-10	35
Pulmonary fibrosis	Pulmonary hypertension	10	10	ACE (2), TNF (2), CAV1 (5), CXCL8 (2), CCL2 (2), ACE2 (2), EDN1 (2), CALCA (2), TGFA (2), ABCA3 (2)	0.06289	0.16393	1.148e-11	1.329e-10	
Arthrogryposis multiplex congenita	Digitotalar dysmorphism	5	4	MYH3 (1), TPM2 (2), NALCN (2), TNNI2 (2), TNNT3 (2)	0.06757	0.83333	1.160e-11	1.343e-10	
Appendiceal disorder	Appendicitis	4	0	MND1 (1), TMEM131L (1), FFAR2 (1), KRTDAP (1)	0.12903	1.00000	1.170e-11	1.354e-10	
Atrophic macular degeneration	Retinopathy	8	1	CFI (1), C2 (1), C3 (1), CETP (1), CFH (1), RDH5 (1), ARMS2 (1), RPGR (6)	0.07921	0.15385	1.209e-11	1.398e-10	238
Ovarian neoplasms	Renal cell carcinoma	14	1	PTEN (1), TP53 (1), SOD2 (1), IL6 (1), ALOX5 (1), TNFSF10 (1), MET (5), ERBB2 (1), SLC2A1 (1), ALOX12B (1), PIK3CA (1), BAP1 (1)	0.05447	0.10687	1.224e-11	1.414e-10	4
Androgenetic alopecia	Colorectal cancer	64	3	KANSL1 (1), RREB1 (1), HDAC4 (1), FGFR3 (3), BORCS5 (1), CCDC91 (1), CYRIB (1), EBF1 (1), FADS2 (1), FMN1 (1), GLIS3 (1), HDAC9 (1)	0.04845	0.15686	1.233e-11	1.424e-10	21
Ciliopathy	Senior-loken syndrome	6	6	WDR19 (6), SCLT1 (2), SDCCAG8 (5), IQCB1 (7), CEP164 (2), TRAF3IP1 (6)	0.07595	0.46154	1.296e-11	1.496e-10	8
Hereditary atrial fibrillation	Ventricular fibrillation	6	6	KCNE2 (3), KCNJ2 (2), NKX2-5 (2), SCN5A (4), TTN (2), SCN1B (2)	0.10909	0.25000	1.376e-11	1.587e-10	3
Diffuse cutaneous systemic sclerosis	Systemic scleroderma	5	2	HLA-DPB1 (1), IRF5 (3), STAT4 (2), TNPO3 (1), HLA-DPA1 (1)	0.14706	0.33333	1.388e-11	1.601e-10	22
Hereditary breast cancer	Rhabdomyosarcoma	6	6	MSH2 (2), MSH6 (2), NBN (2), PMS2 (3), SLC67A1 (4), MLH1 (2)	0.11111	0.22222	1.407e-11	1.622e-10	39
Hemochromatosis	Hereditary hemochromatosis	4	4	TFR2 (6), HFE (6), HAMP (6), SLC40A1 (5)	0.22222	0.57143	1.494e-11	1.721e-10	148
Hereditary breast cancer	Muir-torre syndrome	4	4	MSH2 (5), MSH6 (2), PMS2 (2), MLH1 (5)	0.12121	1.00000	1.536e-11	1.766e-10	39
Hereditary breast cancer	mismatch repair cancer syndrome 1	4	0	MSH2 (1), MSH6 (1), PMS2 (1), MLH1 (1)	0.12121	1.00000	1.536e-11	1.766e-10	39
Congenital malformation syndromes predominantly affecting facial appearance	Orofaciodigital syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.12121	1.00000	1.536e-11	1.766e-10	
Orofaciodigital syndrome	Warburg micro syndrome	4	4	RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5)	0.12121	1.00000	1.536e-11	1.766e-10	
Cerebellar atrophy	Congenital pes cavus	5	0	DYNC1H1 (1), HARS1 (1), SMC1A (1), BIVM-ERCC5 (1), ERCC5 (1)	0.13158	0.41667	1.551e-11	1.782e-10	
Hemophilia a	Venous thrombosis	5	5	F2 (2), MTHFR (2), PLAT (2), F8 (6), TFPI (2)	0.14706	0.31250	1.580e-11	1.814e-10	36
Endometriosis	Hypertension	67	25	MAP3K1 (1), SRD5A2 (3), GATA4 (1), PTEN (3), RUNX1 (1), ASCC1 (1), C6orf118 (1), CAMK1D (1), CLIC4 (1), COL12A1 (1), DIO2 (2), ESR2 (2)	0.04592	0.17819	1.617e-11	1.856e-10	34
Dysfibrinogenemia	Hypofibrinogenemia	3	3	FGA (5), FGG (5), FGB (4)	0.50000	1.00000	1.644e-11	1.876e-10	156
Hyperglycinuria	Iminoglycinuria	3	3	SLC36A2 (6), SLC6A19 (3), SLC6A20 (4)	0.50000	1.00000	1.644e-11	1.876e-10	
Mitochondrial hepatopathy	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	3	2	POLG (6), TWNK (5), POLGARF (1)	0.50000	1.00000	1.644e-11	1.876e-10	181
Hemoglobin m disease	Thalassemia	3	3	HBA1 (3), HBA2 (2), HBB (4)	0.50000	1.00000	1.644e-11	1.876e-10	24
Thalassemia	Unstable hemoglobin disease	3	3	HBA1 (3), HBA2 (3), HBB (4)	0.50000	1.00000	1.644e-11	1.876e-10	24
Cerebral thrombosis	Intracranial thrombosis	3	3	PLAT (2), SERPINC1 (2), VWF (2)	0.50000	1.00000	1.644e-11	1.876e-10	
Chilblain lupus	Chilblain lupus erythematosus	3	3	SAMHD1 (7), TREX1 (7), STING1 (3)	0.50000	1.00000	1.644e-11	1.876e-10	159
Congenital fibrinogen deficiency	Dysfibrinogenemia	3	3	FGA (5), FGG (5), FGB (4)	0.50000	1.00000	1.644e-11	1.876e-10	156
Congenital hypofibrinogenemia	Dysfibrinogenemia	3	3	FGA (3), FGG (3), FGB (3)	0.50000	1.00000	1.644e-11	1.876e-10	156
Congenital afibrinogenemia	Dysfibrinogenemia	3	3	FGA (5), FGG (5), FGB (4)	0.50000	1.00000	1.644e-11	1.876e-10	156
Afibrinogenemia	Dysfibrinogenemia	3	3	FGA (4), FGG (4), FGB (4)	0.50000	1.00000	1.644e-11	1.876e-10	156
Atopic dermatitis	Urticaria	8	8	IL1B (2), TNF (2), GSTM1 (2), TGFB1 (2), IL18 (2), HNMT (2), STAT6 (3), SELE (2)	0.07619	0.17391	1.686e-11	1.923e-10	
Autoimmune hepatitis	Pleural diseases	5	5	IL4 (2), IL6 (2), TGFB1 (2), IFNG (2), CCL2 (2)	0.11364	0.50000	1.739e-11	1.983e-10	
Congenital cystic kidney disease	Meckel-gruber syndrome	4	4	TMEM231 (5), KIF14 (2), B9D1 (5), TXNDC15 (5)	0.11765	1.00000	1.748e-11	1.990e-10	8
Cryptospermia	Testicular azoospermia	4	0	TRIM71 (1), DMC1 (1), M1AP (1), SYCP2 (1)	0.11765	1.00000	1.748e-11	1.990e-10	
Blood coagulation disorder	Cor pulmonale	5	2	F2 (3), ABO (1), SLC19A2 (1), F5 (3), FGG (1)	0.14286	0.33333	1.752e-11	1.995e-10	
Esophageal squamous cell carcinoma	Skin neoplasms	14	2	NOTCH2 (1), NOTCH1 (1), TP53 (2), HLA-DQA1 (1), HLA-DRB1 (1), GSTT1 (1), NFE2L2 (1), SOD2 (1), PTGS2 (1), HIF1A (1), KRT17 (1), NOTCH3 (1)	0.05364	0.10853	1.766e-11	2.009e-10	
Cataract-microcornea syndrome	Lamellar cataract	4	4	CRYAA (3), CRYBA4 (3), CRYGC (3), CRYGD (3)	0.23529	0.44444	1.773e-11	2.016e-10	51
Aortic stenosis	Lipoprotein lipase deficiency	7	1	FADS1 (1), FADS2 (1), LDLR (1), LPL (3), CELSR2 (1), MYRF (1), TMEM258 (1)	0.08333	0.23333	1.804e-11	2.050e-10	
Anophthalmia	Congenital ocular coloboma	5	1	RARB (1), ELP4 (1), PAX6 (1), RAX (2), RBP4 (1)	0.13889	0.35714	1.808e-11	2.054e-10	
Diabetic nephropathy type 2	Hypertensive nephropathy	5	0	NYAP2 (1), TCF7L2 (1), FTO (1), HBB (1), PDILT (1)	0.14706	0.27778	1.823e-11	2.070e-10	
Allergic contact dermatitis	Rhinitis	9	8	MRC1 (2), IL10 (2), IL2 (2), IL4 (2), TLR4 (1), TNF (2), IFNG (2), CCR2 (2), IL18 (2)	0.06923	0.13846	1.880e-11	2.134e-10	46
Calcinosis	Oral submucous fibrosis	6	6	TNF (2), TGFB1 (2), MMP9 (2), COL1A1 (2), TIMP1 (2), MMP2 (2)	0.09836	0.30000	1.903e-11	2.158e-10	
Congenital myopathy	Neuromuscular disease	7	6	SCN4A (4), ACTN2 (2), ACTA1 (7), RYR1 (4), LMNA (1), MYH7 (5), TTN (3)	0.08861	0.17500	1.937e-11	2.196e-10	
Brain ischemia	Nervous system disease	9	9	TP53 (2), BDNF (2), CASP3 (2), MTHFR (2), TNF (2), PTGS2 (2), SOD1 (2), CSF3 (2), CASP9 (2)	0.06923	0.13235	1.940e-11	2.198e-10	
Leber congenital amaurosis	Nystagmus	8	5	CNGB3 (1), GUCY2D (6), RPGRIP1 (6), RPE65 (6), NMNAT1 (6), OTX2 (1), CEP290 (6), MKS1 (1)	0.07407	0.18605	1.949e-11	2.207e-10	7
Nuclear cataract	Sutural cataract	4	4	CRYBB2 (2), GJA8 (3), MIP (2), CRYBA1 (2)	0.19048	0.66667	1.958e-11	2.215e-10	51
Congenital generalized lipodystrophy	Lipodystrophy	4	4	CAV1 (7), BSCL2 (7), CAVIN1 (7), AGPAT2 (7)	0.19048	0.66667	1.958e-11	2.215e-10	79
Gouty arthritis	Hyperuricemia	6	6	SLC2A9 (3), TGFB1 (2), XDH (2), ABCG2 (5), ALDH16A1 (2), SLC17A3 (4)	0.08108	0.40000	1.971e-11	2.228e-10	
Colitis	Necrosis	7	7	IL1B (2), TNF (2), IL6 (2), IFNG (2), AHR (2), IL17A (2), NOS2 (2)	0.08537	0.21212	1.986e-11	2.243e-10	
Esophageal neoplasms	Gallbladder neoplasms	7	2	TP53 (1), DCC (2), EGFR (1), BCL2 (1), UCHL1 (1), ABCB1 (2), ERBB2 (1)	0.07527	0.28000	1.986e-11	2.243e-10	
Bullous pemphigoid	Interstitial cystitis	6	2	HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (2), HLA-DQB1 (2), HLA-DOB (1), HLA-DQB2 (1)	0.10345	0.26087	2.029e-11	2.290e-10	1
Cryptophthalmos syndrome	Mobius syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.21053	0.57143	2.037e-11	2.297e-10	90
Cyclocephaly	Mobius syndrome	4	0	RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1)	0.21053	0.57143	2.037e-11	2.297e-10	90
Anxiety disorder	Panic disorder	9	2	HTR1A (1), PDE4B (1), CRH (2), ADORA2A (2), AURKB (1), BORCS6 (1), IQCE (1), MANEA (1), TPH2 (1)	0.05233	0.26471	2.071e-11	2.335e-10	2
Cleft palate	Congenital anomaly of limb	6	6	TP63 (2), IRF6 (2), TGFB2 (2), FGFR2 (2), CHUK (2), COL11A2 (2)	0.08451	0.37500	2.103e-11	2.370e-10	
Basal ganglia disease	Primary familial brain calcification	4	4	PDGFRB (4), XPR1 (4), PDGFB (4), SLC20A2 (3)	0.22222	0.50000	2.134e-11	2.401e-10	411
Macular and posterior pole degeneration	Mesangiocapillary glomerulonephritis	4	4	CFI (2), C3 (2), CD46 (2), CFH (2)	0.22222	0.50000	2.134e-11	2.401e-10	32
Rod-cone dystrophy	Stargardt disease	6	0	BEST1 (1), LRAT (1), RPE65 (1), EYS (1), SNRNP200 (1), RHO (1)	0.10714	0.21429	2.183e-11	2.455e-10	
Hypoglycemia	Permanent neonatal diabetes mellitus	5	4	INS (6), INS-IGF2 (1), ABCC8 (6), KCNJ11 (5), GCK (6)	0.13514	0.35714	2.218e-11	2.494e-10	35
autosomal recessive primary microcephaly	Primary microcephaly	4	4	CENPE (4), ASPM (4), CDK5RAP2 (4), STIL (4)	0.11111	1.00000	2.236e-11	2.513e-10	
Hereditary atrial fibrillation	Long qt syndrome, digenic	4	4	KCNE2 (2), KCNQ1 (2), SCN5A (2), KCNE1 (2)	0.15385	0.80000	2.267e-11	2.546e-10	
Obstructive airway disease	Sleep apnea	9	0	ACE (1), NOS3 (1), TNF (1), SLC6A4 (1), MMP9 (1), CRP (1), EDN1 (1), LEPR (1), ADRB1 (1)	0.06383	0.18367	2.360e-11	2.649e-10	
Graft-versus-host disease	Graves ophthalmopathy	5	2	IL10 (3), IL2 (1), CTLA4 (2), PTPN22 (1), IL1RN (1)	0.14286	0.27778	2.392e-11	2.683e-10	153
Blindness	Leber congenital amaurosis	6	4	ABCA4 (1), AIPL1 (6), USH2A (1), LCA5 (7), RPE65 (6), CEP290 (6)	0.07407	0.42857	2.463e-11	2.763e-10	
Cardiovascular disease	Preeclampsia	19	7	ACE (3), ADRA1D (1), AGT (3), MECOM (1), PREX1 (1), NOS3 (4), MTHFR (3), PPARG (2), FGF5 (1), PRDM8 (1), FTO (2), PLCE1 (1)	0.03711	0.19388	2.478e-11	2.777e-10	
Cleft lip and cleft of alveolar process of maxilla	Complete unilateral cleft lip	4	0	TP63 (1), IRF6 (1), MSX1 (1), NECTIN1 (1)	0.10811	1.00000	2.516e-11	2.819e-10	
B-cell acute lymphoblastic leukemia	Thyroid disease	8	1	SPATA13 (1), CCR6 (1), CCL2 (3), CEP43 (1), TG (1), STAT4 (1), ARID5B (1), RNASET2 (1)	0.07547	0.15094	2.532e-11	2.835e-10	
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	Mitochondrial complex deficiency	5	5	SCO2 (5), COA5 (5), COA6 (5), COX15 (5), SURF1 (4)	0.04167	1.00000	2.534e-11	2.836e-10	62
Cachexia	Colitis	5	5	IGF1 (2), TNF (2), IL6 (2), PTGS2 (2), GHRL (2)	0.12195	0.41667	2.580e-11	2.886e-10	43
Autoimmune polyendocrine syndrome	Oropharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.50000	0.75000	2.630e-11	2.936e-10	1
Alport syndrome	Alport syndrome, x-linked	3	3	COL4A5 (5), COL4A3 (5), COL4A4 (5)	0.50000	0.75000	2.630e-11	2.936e-10	91
Epilepsy with auditory features	Lateral temporal lobe epilepsy	3	3	RELN (3), DEPDC5 (2), LGI1 (4)	0.50000	0.75000	2.630e-11	2.936e-10	209
Hypertyrosinemia	Tyrosinemia	3	3	FAH (7), HPD (6), TAT (7)	0.50000	0.75000	2.630e-11	2.936e-10	199
Diverticular disease	Obstructive pulmonary disease	34	2	RREB1 (1), ARHGEF28 (1), ICA1L (1), MAML3 (1), MAPKAP1 (1), MMS22L (1), SCARA5 (1), SLC35F3 (2), TBX5 (1), TRPS1 (1), VAPA (1), EFEMP1 (1)	0.04387	0.13655	2.640e-11	2.946e-10	
Anorexia nervosa	Generalized anxiety disorder	11	0	ASB3 (1), MAD1L1 (1), MGMT (1), SPAG16 (1), TMEM106B (1), ANKS1B (1), ADGRL4 (1), FAM120A (1), IFI44 (1), IGSF9B (1), LRFN5 (1)	0.03915	0.27500	2.643e-11	2.947e-10	75
Epilepsy of infancy with migrating focal seizures	Rolandic epilepsy	5	5	SCN1A (2), SCN2A (2), TBC1D24 (5), KCNT1 (2), PLCB1 (2)	0.09615	0.55556	2.657e-11	2.960e-10	
Malignant migrating partial seizures of infancy	Rolandic epilepsy	5	3	SCN1A (2), SCN2A (1), TBC1D24 (5), KCNT1 (1), PLCB1 (2)	0.09615	0.55556	2.657e-11	2.960e-10	
Digestive system disease	Esophageal adenocarcinoma	8	0	ALDH1A2 (1), BCL3 (1), CRTC1 (1), FOXP1 (1), KHDRBS2 (1), DPP6 (1), BARX1 (1), GOLIM4 (1)	0.06612	0.22857	2.683e-11	2.987e-10	
hereditary pheochromocytoma-paraganglioma	Pheochromocytoma	4	4	SDHB (2), SDHD (2), TMEM127 (4), MAX (4)	0.20000	0.57143	2.716e-11	3.022e-10	78
Arteriosclerosis	Hypercholesterolemia	7	6	APOB (6), APOE (2), LDLR (6), ICAM1 (2), PON1 (2), ABCG5 (1), VCAM1 (2)	0.08642	0.17073	2.744e-11	3.053e-10	57
Autoinflammatory syndrome	Hereditary hemophagocytic lymphohistiocytosis	4	4	PRF1 (2), UNC13D (2), STX11 (2), STXBP2 (2)	0.10526	1.00000	2.821e-11	3.133e-10	96
Cleft lip	Cleft lip and cleft of alveolar process of maxilla	4	2	TP63 (2), IRF6 (2), MSX1 (1), NECTIN1 (1)	0.10526	1.00000	2.821e-11	3.133e-10	
Glycogen phosphorylase kinase deficiency	Glycogen storage disease	4	4	PHKA1 (6), PHKA2 (6), PHKB (7), PHKG2 (8)	0.10526	1.00000	2.821e-11	3.133e-10	
Breast neoplasms	Endometriosis	41	40	WT1 (2), MAP3K1 (2), PTEN (2), EGFR (2), ESR2 (2), GRIK2 (2), PTPRD (2), RARB (3), RSPO3 (2), BCL2 (2), CYP19A1 (2), ESR1 (3)	0.04807	0.10904	2.854e-11	3.169e-10	
Jeune syndrome	Saldino-noonan syndrome	5	3	NEK1 (1), DYNC2H1 (5), DYNC2I1 (3), DYNC2I2 (3), DYNLT2B (1)	0.10417	0.50000	2.944e-11	3.267e-10	19
Beckwith-wiedemann syndrome	Silver-russell syndrome	4	2	IGF2 (7), INS-IGF2 (1), CDKN1C (7), - (1)	0.22222	0.40000	2.953e-11	3.276e-10	323
Ovarian serous carcinoma	Uterine fibroid	26	0	RTEL1 (1), TERT (1), TP53 (1), TNFSF13 (1), CTNNA2 (1), PIK3C2B (1), TNFSF12-TNFSF13 (1), TTC28 (1), ESR1 (1), PARP1 (1), RBMS1 (1), KREMEN1 (1)	0.04719	0.09630	2.990e-11	3.315e-10	21
Nephronophthisis	Polycystic kidney disease	7	5	MKKS (1), CC2D2A (1), NPHP3 (6), CEP290 (2), IFT140 (5), NEK8 (8), ANKS6 (7)	0.08537	0.17500	3.125e-11	3.463e-10	
Limb girdle muscular dystrophy	muscular dystrophy, limb-girdle, autosomal dominant	4	4	TNPO3 (4), CAPN3 (7), DNAJB6 (5), HNRNPDL (5)	0.10256	1.00000	3.153e-11	3.491e-10	131
Dyskeratosis congenita	Telomere syndrome	4	4	RTEL1 (6), TERT (8), PARN (6), WRAP53 (8)	0.14286	0.80000	3.189e-11	3.526e-10	77
Cardiac arrest	Paroxysmal familial ventricular fibrillation	4	2	DSP (1), DPP6 (2), RYR2 (1), SCN5A (2)	0.14286	0.80000	3.189e-11	3.526e-10	3
Congenital iris coloboma	Congenital ocular coloboma	4	0	PAX6 (1), ACTG1 (1), FZD5 (1), SALL2 (1)	0.14286	0.80000	3.189e-11	3.526e-10	25
Congenital insensitivity to pain	Erythromelalgia	3	1	SCN10A (1), SCN11A (1), SCN9A (5)	0.42857	1.00000	3.288e-11	3.617e-10	171
collagen 6-related myopathy	Collagen vi-related myopathy	3	3	COL6A3 (2), COL6A1 (3), COL6A2 (2)	0.42857	1.00000	3.288e-11	3.617e-10	307
Collagen vi muscular dystrophy	Collagen vi-related myopathy	3	3	COL6A3 (4), COL6A1 (5), COL6A2 (4)	0.42857	1.00000	3.288e-11	3.617e-10	307
Collagen vi-related myopathy	Digenic alport syndrome	3	3	COL4A5 (3), COL4A3 (3), COL4A4 (3)	0.42857	1.00000	3.288e-11	3.617e-10	
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar ataxia, intellectual disability, and dysequilibrium	3	3	WDR81 (4), VLDLR (4), ATP8A2 (3)	0.42857	1.00000	3.288e-11	3.617e-10	260
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Dysequilibrium syndrome	3	3	WDR81 (3), VLDLR (4), ATP8A2 (4)	0.42857	1.00000	3.288e-11	3.617e-10	260
Bethlem myopathy	Collagen vi muscular dystrophy	3	3	COL6A3 (6), COL6A1 (6), COL6A2 (6)	0.42857	1.00000	3.288e-11	3.617e-10	307
Bethlem myopathy	collagen 6-related myopathy	3	3	COL6A3 (7), COL6A1 (7), COL6A2 (7)	0.42857	1.00000	3.288e-11	3.617e-10	307
Methemoglobinemia	Unstable hemoglobin disease	3	3	HBA1 (5), HBA2 (3), HBB (7)	0.42857	1.00000	3.288e-11	3.617e-10	24
Hemoglobin m disease	Methemoglobinemia	3	3	HBA1 (7), HBA2 (3), HBB (7)	0.42857	1.00000	3.288e-11	3.617e-10	24
Congenital ocular coloboma	Microphthalmia	6	6	RARB (7), PAX6 (2), RAX (3), RBP4 (5), MAB21L2 (3), FZD5 (4)	0.10169	0.23077	3.316e-11	3.647e-10	
Panhypopituitarism	Septo-optic dysplasia	5	5	SOX3 (6), HESX1 (5), PROKR2 (3), OTX2 (2), FGFR1 (3)	0.10204	0.50000	3.331e-11	3.661e-10	
Aortic valve disease	Heart valve disease	8	3	NOTCH1 (4), FADS1 (1), FADS2 (1), MECOM (1), LPA (1), COL1A1 (2), TIMP1 (2), CEP85L (1)	0.06957	0.19512	3.417e-11	3.754e-10	
Atrial septal defect	Atrioventricular septal defect	5	2	GATA4 (6), FOXP1 (1), TBX5 (1), CHD7 (1), GATA6 (7)	0.11628	0.41667	3.526e-11	3.872e-10	
Gastroesophageal reflux disease	Irritable bowel syndrome	18	0	CELF4 (1), CNTNAP2 (1), DCC (1), ERBB4 (1), FOXP2 (1), H3C12 (1), HLA-C (1), MECOM (1), SHISA6 (1), SORCS3 (1), TCF4 (1), SMG6 (1)	0.04545	0.13433	3.572e-11	3.921e-10	2
Genetic predisposition to disease	Pulmonary fibrosis	9	9	CAT (2), TERT (3), ACE (2), IL1B (2), SOD1 (2), EGF (2), OGG1 (2), MT2A (2), TGFA (2)	0.06122	0.18750	3.592e-11	3.940e-10	
Non-small-cell lung carcinoma	Renal cell carcinoma	14	1	CAT (1), TP53 (1), IL6R (1), VEGFA (1), GSTP1 (1), SOD2 (1), KEAP1 (1), DAPK1 (1), MET (5), NDRG1 (1), ALK (1), BIRC5 (1)	0.05224	0.10072	3.685e-11	4.041e-10	4
Epidermolysis bullosa	Other epidermolysis bullosa	4	3	PLEC (8), LAMB3 (1), ITGB4 (5), ITGA6 (2)	0.16667	0.66667	3.827e-11	4.194e-10	229
Intrahepatic cholestasis	Progressive intrahepatic cholestasis	4	4	ATP8B1 (4), TJP2 (2), ABCB11 (3), ABCB4 (5)	0.21053	0.44444	3.839e-11	4.198e-10	135
Neuropathy, ataxia, and retinitis pigmentosa	Optic neuropathy	4	1	ND1 (1), ATP6 (2), ATP8 (1), ND4 (1)	0.21053	0.44444	3.839e-11	4.198e-10	26
Hypercalcemia	Hypercalciuria	4	4	PTH (2), KL (2), SLC34A1 (2), CYP24A1 (2)	0.21053	0.44444	3.839e-11	4.198e-10	259
Maturity-onset diabetes of the young	Transient neonatal diabetes mellitus	4	4	INS (3), ABCC8 (6), KCNJ11 (5), GCK (3)	0.21053	0.44444	3.839e-11	4.198e-10	35
Bladder calculus	Kidney and ureter calculus	4	4	CASR (2), RGS14 (2), SLC34A1 (2), CYP24A1 (2)	0.09756	1.00000	3.903e-11	4.267e-10	
Bullous pemphigoid	Henoch schoenlein purpura	5	3	HLA-DQA1 (2), HLA-DRA (1), HLA-DRB1 (2), HLA-DRB5 (1), HLA-DQB1 (2)	0.13514	0.27778	3.949e-11	4.315e-10	1
Bronchiectasis	Cystic fibrosis	6	6	SERPINA1 (3), TNF (2), SCNN1A (6), CFTR (7), SCNN1B (6), SCNN1G (5)	0.08108	0.35294	3.975e-11	4.339e-10	
Asbestosis	Cystic fibrosis	6	4	SERPINA1 (3), GSTT1 (2), IL1B (2), TNF (2), EPHX1 (1), GSTM1 (1)	0.08108	0.35294	3.975e-11	4.339e-10	
Pancreatic neoplasms	Renal cell carcinoma	13	0	HNF1B (1), PTEN (1), TP53 (1), INPP4B (1), SOD2 (1), PTGS2 (1), BSG (1), IFNA2 (1), ALOX5 (1), TNFSF10 (1), ALOX12B (1), TGM2 (1)	0.05328	0.11111	4.164e-11	4.543e-10	4
Febrile convulsion	Rolandic epilepsy	6	2	CPA6 (5), GABRG2 (5), SCN1A (1), SCN1B (1), SCN2A (1), SCN9A (1)	0.09375	0.27273	4.176e-11	4.554e-10	228
Hashimoto disease	Myasthenia gravis	6	4	FAM76B (1), HLA-DQA1 (2), HLA-DRB1 (2), ATXN2 (1), CTLA4 (3), PTPN22 (2)	0.10000	0.22222	4.256e-11	4.639e-10	
Hypertrophy	Pulmonary fibrosis	9	9	ACE (2), AGT (2), CSF3 (2), COL3A1 (2), FN1 (2), EDN1 (2), CMA1 (2), MTOR (2), TGFA (2)	0.06081	0.18367	4.375e-11	4.766e-10	
Eye disease	Hyperopia	10	0	RBFOX1 (1), SHISA6 (1), KCNQ5 (1), PRSS56 (1), C14orf39 (1), RASGEF1B (1), LAMA2 (1), GJD2 (1), RDH5 (1), RGR (1)	0.06098	0.12658	4.488e-11	4.886e-10	262
Sebaceous gland disease	Seborrheic keratosis	5	0	RALY (1), IRF4 (1), TYR (1), DEF8 (1), SLC45A2 (1)	0.12195	0.35714	4.659e-11	5.071e-10	
Lissencephaly	Microcephaly	9	9	FOXG1 (2), TUBG1 (3), DYNC1H1 (2), NBN (2), CASK (2), NDE1 (6), ASPM (5), CPAP (6), TUBA1A (5)	0.06081	0.18000	4.870e-11	5.298e-10	
Mitochondrial dna depletion syndrome	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	4	2	POLG (6), TWNK (6), POLGARF (1), FANCI (1)	0.12903	0.80000	5.065e-11	5.507e-10	181
Aortic valve disease	Bicuspid aortic valve	6	6	NOTCH1 (5), ROBO4 (6), GATA5 (2), MGP (2), SMAD6 (6), NKX2-5 (2)	0.06667	0.42857	5.096e-11	5.538e-10	
Myocardial infarction	Venous thromboembolism	41	11	ZFPM2 (1), SH2B3 (3), SPI1 (1), ADGRL2 (1), CUX2 (1), DGKB (1), FNBP4 (1), IL6R (1), KALRN (1), NUP160 (1), PLCG2 (1), SERPINE1 (2)	0.04649	0.11988	5.124e-11	5.566e-10	34
Aneurysm	Large artery stroke	7	0	LRP1 (1), CHRNB4 (1), CELSR2 (1), LPA (1), MMP13 (1), PSRC1 (1), ZPR1 (1)	0.07071	0.25926	5.321e-11	5.776e-10	
Aniridia	Anterior segment mesenchymal dysgenesis	4	4	FOXC1 (2), FOXD3 (2), PAX6 (4), PITX2 (2)	0.20000	0.44444	5.373e-11	5.827e-10	82
Cleft palate and bilateral cleft lip	Optic neuropathy	4	0	ND1 (1), ATP6 (1), ATP8 (1), ND4 (1)	0.20000	0.44444	5.373e-11	5.827e-10	26
Latent autoimmune diabetes in adults	Myasthenia gravis	5	4	HLA-DQA1 (2), ATXN2 (1), HLA-DQB1 (2), CTLA4 (2), PTPN22 (2)	0.10870	0.41667	5.446e-11	5.904e-10	1
Anophthalmia/microphthalmia-esophageal atresia syndrome	Nystagmus	6	4	TFAP2A (2), ELP4 (1), PAX6 (2), SIX6 (2), C14orf39 (1), OTX2 (2)	0.09524	0.24000	5.614e-11	6.082e-10	
Clubfoot	Congenital clubfoot	4	4	CHST14 (2), MTHFR (2), PITX1 (6), LMX1B (2)	0.15385	0.66667	5.662e-11	6.131e-10	27
Benign hereditary chorea	Bouillaud’s disease	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.37500	1.00000	5.753e-11	6.203e-10	1
Bor syndrome	Branchiootorenal syndrome	3	3	EYA1 (6), SIX5 (7), SIX1 (7)	0.37500	1.00000	5.753e-11	6.203e-10	134
Bouillaud’s disease	Pemphigus vulgaris	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.37500	1.00000	5.753e-11	6.203e-10	1
Maple syrup urine disease	Thiamine-responsive maple syrup urine disease	3	3	BCKDHB (7), BCKDHA (8), DBT (7)	0.37500	1.00000	5.753e-11	6.203e-10	404
Bouillaud’s disease	Uveomeningoencephalitic syndrome	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.37500	1.00000	5.753e-11	6.203e-10	1
Early-onset generalized limb-onset dystonia	Torsion dystonia	3	3	EIF2AK2 (3), TOR1A (4), SHQ1 (2)	0.37500	1.00000	5.753e-11	6.203e-10	172
Epidermal nevus	Schimmelpenning-feuerstein-mims syndrome	3	3	KRAS (2), NRAS (4), HRAS (4)	0.37500	1.00000	5.753e-11	6.203e-10	17
Hypoalphalipoproteinemia	Hypobetalipoproteinemia	3	2	APOB (6), PCSK9 (1), ANGPTL3 (6)	0.37500	1.00000	5.753e-11	6.203e-10	
Hypocalcemic vitamin d-dependent rickets	Vitamin d dependent rickets	3	3	VDR (6), CYP27B1 (6), CYP2R1 (7)	0.37500	1.00000	5.753e-11	6.203e-10	342
Focal epilepsy	Partial epilepsy	4	4	DEPDC5 (2), CLASP1 (2), NPRL2 (3), NPRL3 (3)	0.08889	1.00000	5.798e-11	6.248e-10	
Amyotrophic lateral sclerosis	Charcot-marie-tooth disease	19	17	VCP (6), SETX (6), SPG11 (7), SPTLC1 (5), SIGMAR1 (7), NRG1 (1), BICD2 (1), DCTN1 (7), DYNC1H1 (5), FIG4 (8), IFRD1 (2), KIF5A (5)	0.04260	0.14394	5.929e-11	6.386e-10	13
Allergic contact dermatitis	Behcet disease	10	9	IL10 (4), IL1A (3), IL2 (2), IL4 (2), TLR4 (2), TNF (2), CYP1A1 (2), IL18 (2), NAT2 (1), CCR1 (3)	0.05917	0.13699	6.106e-11	6.571e-10	46
Kawasaki disease	Sarcoidosis	11	4	BTNL2 (5), SHANK2 (1), TNF (1), HLA-DQB1 (2), ZFHX3 (1), CCR2 (1), LTA (2), IL18 (2), CCR5 (1), HLA-DOB (1), TSBP1 (1)	0.05069	0.17188	6.105e-11	6.571e-10	
Amphetamine or sympathomimetic abuse	Dyskinesia, drug-induced	6	6	PDYN (2), DRD1 (2), DRD2 (2), DRD3 (2), GAD1 (2), GDNF (2)	0.06897	0.40000	6.192e-11	6.659e-10	
Spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia	5	5	ACAN (6), COL2A1 (8), TRPV4 (6), B3GALT6 (6), RPL13 (6)	0.12821	0.27778	6.226e-11	6.694e-10	44
Bone resorption	Hypercalcemia	4	4	PTHLH (2), PTH (2), TNFRSF11B (2), TNFSF11 (2)	0.20000	0.40000	6.395e-11	6.871e-10	259
Complete unilateral cleft lip	Craniosynostosis	7	3	FGFR3 (1), FGF10 (2), NOG (1), FGFR2 (2), MSX1 (1), PTCH1 (1), FGFR1 (2)	0.07865	0.19444	6.427e-11	6.902e-10	136
Hypogonadism	Hypogonadotropic hypogonadism	8	8	IL17RD (4), TACR3 (6), FSHB (5), TAC3 (5), GNRH1 (6), LHB (4), KISS1R (6), GNRHR (4)	0.06897	0.17021	6.500e-11	6.978e-10	58
Kleins syndrome	Waardenburg-shah syndrome	3	3	EDNRB (3), MITF (3), EDN3 (3)	0.42857	0.75000	6.574e-11	7.051e-10	186
Extraskeletal ewing sarcoma	Skeletal ewing sarcoma	3	0	ERG (1), EWSR1 (1), FLI1 (1)	0.42857	0.75000	6.574e-11	7.051e-10	
Neural tube defects, susceptibility to	Neural tube defects, x-linked	4	4	VANGL2 (4), TBXT (2), FUZ (3), VANGL1 (3)	0.12121	0.80000	6.710e-11	7.192e-10	
Congenital nonspherocytic hemolytic anemia	Hereditary hemolytic anemia	4	4	GSS (3), GCLC (3), HK1 (4), GPI (3)	0.20000	0.36364	6.956e-11	7.453e-10	12
Hypercholanemia	Hypercholesterolemia	4	4	EPHX1 (3), TJP2 (6), BAAT (5), SLC10A1 (5)	0.08511	1.00000	6.970e-11	7.463e-10	
C3 glomerulonephritis	Complement component deficiency	4	4	CFI (5), C3 (8), CFB (7), CFH (5)	0.18182	0.50000	7.096e-11	7.588e-10	
Complement component deficiency	Mesangiocapillary glomerulonephritis	4	4	CFI (5), C3 (6), CFB (5), CFH (5)	0.18182	0.50000	7.096e-11	7.588e-10	
Complement component deficiency	Complement pathway abnormality	4	4	C1S (5), C2 (5), C4B (5), C4A (5)	0.18182	0.50000	7.096e-11	7.588e-10	
Antiphospholipid syndrome	Pemphigus vulgaris	4	3	HLA-DQA1 (2), HLA-DRA (1), HLA-DRB1 (2), HLA-DQB1 (2)	0.16667	0.57143	7.224e-11	7.717e-10	1
Catecholaminergic polymorphic ventricular tachycardia	Hereditary bundle branch system defect	4	1	TRPM4 (1), DSP (1), CASQ2 (7), SCN5A (1)	0.16667	0.57143	7.224e-11	7.717e-10	3
Marfan syndrome	Urethral obstruction	6	3	TGFB2 (2), SMAD3 (1), ACTA2 (1), NOS2 (2), COL3A1 (2), HEY2 (1)	0.09375	0.23077	7.283e-11	7.776e-10	
Progressive myoclonic epilepsy	Rolandic epilepsy	6	6	SCARB2 (6), PRICKLE1 (6), PRICKLE2 (2), TBC1D24 (5), DEPDC5 (2), CSTB (2)	0.09091	0.25000	7.500e-11	8.004e-10	
Christ-siemens-touraine syndrome	Ectodermal dysplasia	4	3	EDAR (4), EDA (3), RANBP2 (1), EDARADD (5)	0.11765	0.80000	7.668e-11	8.179e-10	76
Cleft lip	Craniosynostosis	7	5	FGFR3 (2), FGF10 (3), NOG (1), FGFR2 (2), MSX1 (1), PTCH1 (2), FGFR1 (2)	0.07778	0.18919	7.903e-11	8.426e-10	136
Atrial fibrillation	Uterine fibroid	48	11	CASZ1 (3), HSPG2 (3), RUNX1 (1), CELA3B (1), ESR2 (3), FOXO1 (1), HEATR3 (1), MDM4 (1), NCOR2 (1), NKAIN2 (1), PIK3C2B (1), SORCS3 (1)	0.04278	0.15686	7.958e-11	8.481e-10	
Inflammatory skin disease	Psoriatic arthritis	9	2	IFIH1 (1), TNIP1 (1), REV3L (1), TRAF3IP2 (3), FAP (1), IL23R (1), NOS2 (3), TNFAIP3 (1), STAT2 (1)	0.06383	0.12329	8.040e-11	8.564e-10	14
Night blindness, congenital stationary	Retinitis punctata albescens	4	3	RDH5 (2), RHO (4), RLBP1 (3), CD63 (1)	0.14286	0.66667	8.086e-11	8.609e-10	
Neural tube defect	Neural tube defects, folate-sensitive	4	4	MTHFR (3), MTRR (3), MTR (3), MTHFD1 (3)	0.08163	1.00000	8.310e-11	8.843e-10	
Hyperkinesia	Hypotension	7	7	GRIA1 (2), GCG (2), IL2 (2), ADORA2A (2), DRD1 (2), DRD2 (2), OXT (2)	0.07447	0.21212	8.359e-11	8.891e-10	66
Atherosclerosis	Peripheral arterial disease	14	6	ABCA1 (3), HDAC9 (3), LDLR (3), SMARCA4 (1), TCF7L2 (1), ESR1 (3), MTHFR (1), ATXN2 (1), IL6 (3), CHRNA3 (1), TWIST1 (1), LPA (2)	0.04947	0.11765	8.685e-11	9.234e-10	
Central nervous system non-hodgkin lymphoma	Crest syndrome	4	1	HLA-DRB1 (2), HLA-DRB5 (1), EXOC2 (1), IRF4 (1)	0.16000	0.57143	8.923e-11	9.481e-10	
Coronary restenosis	Vascular system injury	4	4	ACE (2), SPP1 (2), HMOX1 (2), TNF (2)	0.19048	0.40000	8.950e-11	9.506e-10	
Hyperglycemia	monogenic diabetes	5	5	INS (3), GCK (3), HNF1A (3), PDX1 (2), NEUROD1 (2)	0.08621	0.50000	8.970e-11	9.523e-10	35
Lynch syndrome	Muir-torre syndrome	4	4	MSH2 (8), MSH6 (8), PMS2 (7), MLH1 (8)	0.08000	1.00000	9.049e-11	9.602e-10	39
Aortic dissection	Thoracoabdominal aortic aneurysm	4	3	FBN1 (1), AGT (2), SMAD3 (2), TGFBR2 (2)	0.17391	0.50000	9.122e-11	9.655e-10	64
Henoch schoenlein purpura	Pemphigus	4	4	HLA-DQA1 (2), HLA-DRB1 (2), C3 (2), HLA-DQB1 (2)	0.17391	0.50000	9.122e-11	9.655e-10	1
Aortic dissection	Ruptured abdominal aortic aneurysm	4	3	FBN1 (1), AGT (2), SMAD3 (2), TGFBR2 (2)	0.17391	0.50000	9.122e-11	9.655e-10	64
Aortic dissection	Ruptured aortic aneurysm	4	3	FBN1 (1), AGT (2), SMAD3 (2), TGFBR2 (2)	0.17391	0.50000	9.122e-11	9.655e-10	64
Aortic dissection	Ruptured thoracic aortic aneurysm	4	3	FBN1 (1), AGT (2), SMAD3 (2), TGFBR2 (2)	0.17391	0.50000	9.122e-11	9.655e-10	64
Endometrial neoplasms	Ovarian neoplasms	13	3	PTEN (1), NPAS3 (1), AKT1 (2), CXCL8 (1), TNFSF10 (1), CDH1 (1), MYC (1), GALNT3 (2), BIRC5 (1), EZH2 (1), ZEB1 (1), SKAP1 (2)	0.05179	0.09924	9.133e-11	9.663e-10	
Liposarcoma	Well-differentiated liposarcoma	3	1	HMGA2 (1), CDK4 (2), MDM2 (1)	0.33333	1.00000	9.205e-11	9.692e-10	361
Hemoglobin m disease	Secondary polycythemia	3	3	HBA1 (3), HBA2 (2), HBB (4)	0.33333	1.00000	9.205e-11	9.692e-10	24
Secondary polycythemia	Unstable hemoglobin disease	3	3	HBA1 (4), HBA2 (4), HBB (4)	0.33333	1.00000	9.205e-11	9.692e-10	24
Bouillaud’s disease	Pemphigus	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.33333	1.00000	9.205e-11	9.692e-10	1
atypical hemolytic-uremic syndrome	Mesangiocapillary glomerulonephritis	3	3	CFI (2), CD46 (2), CFH (2)	0.33333	1.00000	9.205e-11	9.692e-10	32
Bare lymphocyte syndrome	MHC class I deficiency	3	3	TAP2 (2), TAP1 (3), TAPBP (2)	0.33333	1.00000	9.205e-11	9.692e-10	128
Benign adult familial myoclonic epilepsy	Familial adult myoclonic epilepsy	3	3	ADRA2B (2), SAMD12 (5), STARD7 (5)	0.33333	1.00000	9.205e-11	9.692e-10	284
C1q deficiency	Complement pathway abnormality	3	3	C1QA (5), C1QB (5), C1QC (4)	0.33333	1.00000	9.205e-11	9.692e-10	
Calcium metabolism disorders	Hypocalciuric hypercalcemia	3	3	AP2S1 (5), GNA11 (6), CASR (7)	0.33333	1.00000	9.205e-11	9.692e-10	
Citrullinemia	Urea cycle disorder	3	3	ASS1 (7), SLC25A15 (2), SLC25A13 (3)	0.33333	1.00000	9.205e-11	9.692e-10	
Dyskinesia, drug-induced	Hyperkinesia	5	5	DRD1 (2), DRD2 (2), DRD3 (2), CCK (2), TH (2)	0.11364	0.33333	9.738e-11	1.025e-9	
Basal ganglia disease	Idiopathic basal ganglia calcification	4	4	PDGFRB (5), XPR1 (5), PDGFB (5), SLC20A2 (5)	0.19048	0.36364	1.004e-10	1.057e-9	411
Delirium, dementia, and cognitive disorders	Hypotension	8	8	INS (2), AGT (2), NKAIN2 (2), CRH (2), MAOA (2), DRD2 (2), CNR1 (2), VIP (2)	0.06897	0.14286	1.005e-10	1.057e-9	
Joubert syndrome	Polydactyly	7	5	KIF7 (1), CPLANE1 (6), CC2D2A (5), SMAD6 (1), KIAA0586 (6), MKS1 (6), OFD1 (6)	0.07692	0.17949	1.036e-10	1.089e-9	8
Genetic predisposition to disease	Head and neck neoplasms	7	2	IL1B (2), GPX1 (1), RAD51 (1), ADH1C (2), BAP1 (1), XRCC3 (1), TGFA (1)	0.07865	0.14894	1.037e-10	1.089e-9	
Kallmann syndrome	Pituitary stalk interruption syndrome	6	4	HESX1 (2), PROKR2 (3), CHD7 (4), WDR11 (3), NSMF (1), KISS1R (1)	0.09375	0.19355	1.051e-10	1.104e-9	58
Muscular dystrophy	muscular dystrophy, limb-girdle, autosomal dominant	4	4	TNPO3 (2), CAPN3 (2), DNAJB6 (2), HNRNPDL (2)	0.07692	1.00000	1.067e-10	1.120e-9	131
Anhydramnios	Polycystic kidney disease	5	5	DNAJB11 (7), NPHP3 (2), PKD1 (8), PKD2 (8), PKHD1 (8)	0.09091	0.45455	1.082e-10	1.135e-9	
Developmental and epileptic encephalopathy	Generalized epilepsy	12	11	CACNA1A (5), CUX2 (6), GABRA2 (6), RBFOX1 (2), SIK1 (6), SZT2 (7), SCN1A (8), CACNA2D2 (2), GLS (4), GABRG1 (2), SLC38A3 (6), STX1B (1)	0.04380	0.18462	1.109e-10	1.163e-9	
Rosacea	Seborrheic dermatitis	5	0	HERC2 (1), IRF1 (1), IRF4 (1), MC1R (1), SLC45A2 (1)	0.10638	0.35714	1.192e-10	1.249e-9	
Hemolytic anemia	Spherocytosis	5	4	ANK1 (3), SPTA1 (3), SPTB (3), SLC4A1 (3), PLEKHG3 (1)	0.08197	0.50000	1.200e-10	1.257e-9	
Craniofacial microsomia	Goldenhar syndrome	4	3	MYT1 (1), FOXI3 (4), AMIGO2 (2), SF3B2 (4)	0.18182	0.40000	1.220e-10	1.277e-9	
Idiopathic pulmonary fibrosis	Obstructive airway disease	10	9	RTEL1 (4), TERT (4), TNF (2), DSP (4), PTGS2 (1), HIF1A (2), SFTPC (3), FAM13A (4), SFTPA1 (2), TOLLIP (2)	0.05780	0.12195	1.225e-10	1.282e-9	
Hydrophthalmos	Primary congenital glaucoma	3	1	CYP1B1 (1), TEK (2), LTBP2 (1)	0.37500	0.75000	1.315e-10	1.368e-9	
Collagen vi-related myopathy	Ullrich congenital muscular dystrophy	3	3	COL6A3 (7), COL6A1 (7), COL6A2 (7)	0.37500	0.75000	1.315e-10	1.368e-9	307
Congenital hypothyroidism due to absence of thyroid gland	Congenital thyroid atrophy	3	0	TSHR (1), NKX2-5 (1), PAX8 (1)	0.37500	0.75000	1.315e-10	1.368e-9	102
Congenital hypothyroidism due to absence of thyroid gland	Congenital hypothyroidism without goiter	3	0	TSHR (1), NKX2-5 (1), PAX8 (1)	0.37500	0.75000	1.315e-10	1.368e-9	102
Congenital insensitivity to pain	Paroxysmal extreme pain disorder	3	1	SCN10A (1), SCN11A (1), SCN9A (5)	0.37500	0.75000	1.315e-10	1.368e-9	171
Congenital insensitivity to pain	Congenital pain insensitivity	3	3	SCN11A (2), SCN9A (2), PRDM12 (2)	0.37500	0.75000	1.315e-10	1.368e-9	171
Alport syndrome	Collagen vi-related myopathy	3	3	COL4A5 (3), COL4A3 (5), COL4A4 (5)	0.37500	0.75000	1.315e-10	1.368e-9	
Alport syndrome, x-linked	Collagen vi-related myopathy	3	1	COL4A5 (3), COL4A3 (1), COL4A4 (1)	0.37500	0.75000	1.315e-10	1.368e-9	
Cold autoinflammatory syndrome	Cryopyrin-associated periodic syndrome	3	3	PLCG2 (4), NLRP3 (6), NLRC4 (4)	0.37500	0.75000	1.315e-10	1.368e-9	
Axenfeld-rieger syndrome	Rieger syndrome	3	3	COL4A1 (2), FOXC1 (6), PITX2 (6)	0.37500	0.75000	1.315e-10	1.368e-9	82
Benign infantile epilepsy	Benign neonatal epilepsy	3	3	KCNQ2 (4), SCN2A (3), KCNQ3 (3)	0.37500	0.75000	1.315e-10	1.368e-9	213
Budd-chiari syndrome	Thrombocythemia	3	2	JAK2 (6), CALR (4), INSL6 (1)	0.37500	0.75000	1.315e-10	1.368e-9	
Bullous pemphigoid	Pemphigus vulgaris	4	2	HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (2), HLA-DQB1 (3)	0.14815	0.57143	1.320e-10	1.373e-9	1
Cardiofaciocutaneous syndrome	Non-immune hydrops fetalis	5	4	KRAS (8), SHOC2 (2), PTPN11 (3), HRAS (2), RIT1 (1)	0.09434	0.41667	1.322e-10	1.374e-9	49
Cone dystrophy	Oguchi disease	5	1	CACNA1F (1), PDE6B (1), GUCY2D (1), RHO (1), SAG (6)	0.10417	0.35714	1.372e-10	1.425e-9	
familial sleep-related hypermotor epilepsy	Nocturnal frontal lobe epilepsy	3	3	CHRNA2 (6), CHRNB2 (6), CHRNA4 (6)	0.30000	1.00000	1.381e-10	1.432e-9	423
Bone marrow failure syndromes	Congenital bone marrow failure syndrome	3	3	SRP72 (3), ERCC6L2 (3), DNAJC21 (6)	0.30000	1.00000	1.381e-10	1.432e-9	319
Central hypoventilation syndrome	Haddad syndrome	3	3	LBX1 (3), MYO1H (3), PHOX2B (5)	0.30000	1.00000	1.381e-10	1.432e-9	331
Central hypoventilation syndrome	Congenital central hypoventilation syndrome	3	3	LBX1 (4), MYO1H (5), PHOX2B (7)	0.30000	1.00000	1.381e-10	1.432e-9	331
Melanocytic nevus	Sebaceous gland disease	4	0	TP53 (1), TYR (1), DEF8 (1), SLC45A2 (1)	0.18182	0.36364	1.406e-10	1.457e-9	
Marshall syndrome	Myopia	7	7	COL2A1 (2), COL11A1 (6), LRP2 (2), COL9A1 (2), LOXL3 (5), P3H2 (5), GZF1 (3)	0.04795	0.36842	1.414e-10	1.465e-9	
Interstitial cystitis	Membranous glomerulonephritis	6	2	FKBPL (1), HLA-DQA1 (2), HLA-DRB1 (2), PPT2 (1), SFTA2 (1), MUCL3 (1)	0.09091	0.19355	1.457e-10	1.509e-9	1
Dysarthria	Polyneuropathy	5	1	PNPLA6 (2), SPG7 (1), SMC1A (1), BIVM-ERCC5 (1), ERCC5 (1)	0.11905	0.22727	1.526e-10	1.579e-9	241
Blood coagulation disorder	Venous thrombosis	5	4	F2 (3), MTHFR (1), SERPINC1 (2), F5 (3), PROC (2)	0.11905	0.22727	1.526e-10	1.579e-9	36
Brain cancer	Brain neoplasms	4	0	APOBEC3C (1), CCT6B (1), FCHO2 (1), FOXN3 (1)	0.10000	0.80000	1.574e-10	1.627e-9	
Focal glomerulosclerosis	Proteinuria	7	7	AGT (2), SPP1 (2), CUBN (4), TGFB1 (2), MPV17 (2), NPHS1 (2), HAVCR1 (2)	0.07527	0.16667	1.588e-10	1.641e-9	20
Congenital anomaly of limb	Congenital skin anomaly	4	4	TP63 (2), IRF6 (2), FGFR2 (2), CHUK (2)	0.17391	0.40000	1.626e-10	1.679e-9	396
Congenital anomaly of limb	Skin abnormalities	4	4	TP63 (2), IRF6 (2), FGFR2 (2), CHUK (2)	0.17391	0.40000	1.626e-10	1.679e-9	396
Melas syndrome	Optic neuropathy	4	1	ND1 (2), ATP6 (1), ATP8 (1), ND4 (1)	0.16667	0.44444	1.641e-10	1.694e-9	26
Congenital cartilage disorder	Spondyloepiphyseal dysplasia	5	3	HSPG2 (1), COL2A1 (8), TRPV4 (3), GLB1 (1), CHST3 (6)	0.11364	0.27778	1.664e-10	1.717e-9	44
Hepatolenticular degeneration	Oral submucous fibrosis	5	4	TNF (2), IL6 (2), CXCL8 (1), TIMP1 (2), LOX (2)	0.11628	0.25000	1.706e-10	1.759e-9	43
Hypomyelinating leukodystrophy	Pelizaeus-merzbacher disease	4	4	AIMP1 (6), HSPD1 (5), GJC2 (6), MAL (4)	0.12121	0.66667	1.751e-10	1.805e-9	
Fanconi anemia	Hereditary breast-ovarian cancer syndrome	4	4	PALB2 (7), BRCA2 (8), BRCA1 (8), RAD51C (8)	0.09756	0.80000	1.753e-10	1.806e-9	
Female infertility	Uterine fibroid	16	6	BNC1 (1), CHEK2 (1), TP53 (2), ESR2 (2), TTC28 (1), ESR1 (3), IGF1 (3), PAPPA (2), SYNE1 (1), GREB1 (1), CDC42 (1), WNT4 (3)	0.04061	0.15534	1.893e-10	1.950e-9	
Deafness, x-linked	Hearing loss with stapes fixation	3	3	GJB6 (3), GJB2 (3), POU3F4 (3)	0.27273	1.00000	1.973e-10	2.028e-9	68
Deafness, x-linked	X-linked hearing loss with perilymphatic gusher	3	3	GJB6 (2), GJB2 (2), POU3F4 (3)	0.27273	1.00000	1.973e-10	2.028e-9	68
Bilateral perisylvian polymicrogyria	Perisylvian syndrome	3	3	PI4KA (2), ADGRG1 (2), SRPX2 (2)	0.27273	1.00000	1.973e-10	2.028e-9	
Brachycephaly	Coronal craniosynostosis	3	0	FGFR3 (1), TCF12 (1), TWIST1 (1)	0.27273	1.00000	1.973e-10	2.028e-9	250
Cancer	Colorectal adenoma	17	0	RTEL1 (1), TERT (1), HLA-DQA1 (1), HLA-DRB1 (1), PREX1 (1), TCF7L2 (1), TET2 (1), TTC33 (1), ATXN2 (1), HLA-B (1), MUC22 (1), SMAD7 (1)	0.04427	0.12230	2.021e-10	2.077e-9	21
Bicuspid aortic valve	Thoracic aortic aneurysm and aortic dissection	5	4	NOTCH1 (3), SLC2A10 (1), MYH11 (5), ROBO4 (2), GATA5 (2)	0.09804	0.35714	2.045e-10	2.100e-9	
Cachexia	Edema	5	0	TNF (1), IL6 (1), PTGS2 (1), PTHLH (1), CXCL8 (1)	0.08772	0.41667	2.060e-10	2.115e-9	
Polycythemia	Polycythemia vera	4	3	HBA1 (2), H2BC4 (1), HBB (2), JAK2 (5)	0.16000	0.44444	2.078e-10	2.132e-9	24
Anhedonia	Memory disorders	6	6	COMT (2), HTR1A (2), DRD2 (2), SLC6A3 (2), SLC6A4 (2), SLC17A7 (2)	0.08333	0.23077	2.132e-10	2.187e-9	
Costello syndrome	Non-immune hydrops fetalis	5	4	KRAS (3), SHOC2 (2), PTPN11 (3), HRAS (6), LRRC56 (1)	0.09259	0.38462	2.144e-10	2.197e-9	49
Celiac disease	Immunodeficiency	15	15	IRF1 (5), IRF4 (3), IFNG (5), BACH2 (6), CARD9 (3), CD28 (5), IL2RA (2), FCGR3A (3), FASLG (2), CD247 (4), ITPR3 (2), TLR8 (5)	0.04717	0.10791	2.151e-10	2.204e-9	
Atrial flutter	Wolff-parkinson-white syndrome	8	8	TBX5 (2), PITX2 (2), MYH6 (2), CASQ2 (2), KCNH2 (2), SCN5A (2), TTN (2), GJA5 (2)	0.06400	0.15686	2.183e-10	2.235e-9	3
Hemolytic anemia	Hereditary hemolytic anemia	5	5	GCLC (2), HBB (2), HK1 (4), GPI (5), BPGM (3)	0.08065	0.45455	2.194e-10	2.245e-9	12
Bradycardia	Chiari-frommel syndrome	4	4	PRL (2), DRD2 (2), GNRH1 (2), LHB (2)	0.13333	0.57143	2.227e-10	2.279e-9	
Dysarthria	Spastic paraplegia	7	3	PNPLA6 (4), ZGRF1 (1), SPG7 (4), SMC1A (1), SPART (4), BIVM-ERCC5 (1), ERCC5 (1)	0.05147	0.31818	2.265e-10	2.316e-9	
Esophageal squamous cell carcinoma	Transitional cell carcinoma	8	0	TP53 (1), KMT2C (1), PTGS2 (1), CREBBP (1), CDKN1A (1), KDM6A (1), EP300 (1), CCND1 (1)	0.05161	0.24242	2.270e-10	2.320e-9	4
Amphetamine or sympathomimetic abuse	Hyperkinesia	7	7	GABBR1 (2), ADORA2A (2), DRD1 (2), DRD2 (2), DRD3 (2), FOS (2), SLC6A3 (2)	0.06731	0.21212	2.278e-10	2.327e-9	
Autoimmune polyendocrine syndrome	Benign hereditary chorea	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.33333	0.75000	2.301e-10	2.336e-9	1
Autoimmune polyendocrine syndrome	Pemphigus vulgaris	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.33333	0.75000	2.301e-10	2.336e-9	1
Congenital glaucoma	Primary congenital glaucoma	3	3	CYP1B1 (2), TEK (4), LTBP2 (3)	0.33333	0.75000	2.301e-10	2.336e-9	
Benign hereditary chorea	Oropharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.33333	0.75000	2.301e-10	2.336e-9	1
Bladder cancer	Epidermal nevus	3	3	FGFR3 (4), KRAS (2), HRAS (4)	0.33333	0.75000	2.301e-10	2.336e-9	17
Carney complex	Carney-stratakis syndrome	3	3	SDHB (5), SDHA (2), SDHC (5)	0.33333	0.75000	2.301e-10	2.336e-9	78
Digenic hemochromatosis	Hereditary hemochromatosis	3	3	TFR2 (2), HFE (2), HAMP (2)	0.33333	0.75000	2.301e-10	2.336e-9	148
Epidermal nevus	Penile neoplasms	3	3	KRAS (2), HRAS (3), PIK3CA (3)	0.33333	0.75000	2.301e-10	2.336e-9	17
Epilepsy with auditory features	Familial temporal lobe epilepsy	3	3	RELN (5), LGI1 (7), MICAL1 (5)	0.33333	0.75000	2.301e-10	2.336e-9	209
Familial temporal lobe epilepsy	Lateral temporal lobe epilepsy	3	3	RELN (4), LGI1 (5), GAL (3)	0.33333	0.75000	2.301e-10	2.336e-9	209
Oropharyngeal neoplasms	Pemphigus vulgaris	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (3)	0.33333	0.75000	2.301e-10	2.336e-9	1
Intestinal pseudo-obstruction	Megacystis microcolon intestinal hypoperistalsis syndrome	3	2	MYH11 (5), NDE1 (1), ACTG2 (6)	0.33333	0.75000	2.301e-10	2.336e-9	426
Autoimmune polyendocrine syndrome	Uveomeningoencephalitic syndrome	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.33333	0.75000	2.301e-10	2.336e-9	1
Oropharyngeal neoplasms	Uveomeningoencephalitic syndrome	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.33333	0.75000	2.301e-10	2.336e-9	1
Mouth neoplasms	Tongue neoplasms	5	0	SOD2 (1), PTGS2 (1), HSPB1 (1), HRAS (1), CRYAB (1)	0.07246	0.50000	2.419e-10	2.454e-9	
Aplasia of the vermis	Gastrointestinal stromal tumor	7	7	CC2D2A (2), SUFU (2), TMEM231 (2), IFT172 (2), TMEM17 (2), B9D1 (2), C2CD3 (2)	0.07368	0.14894	2.461e-10	2.496e-9	
Mouth neoplasms	Penile neoplasms	4	0	TP53 (1), KRAS (1), HRAS (1), PIK3CA (1)	0.06250	1.00000	2.544e-10	2.579e-9	
Congenital total cataract	Posterior subcapsular cataract	4	3	CRYBB2 (3), EPHA2 (3), MIP (1), LEMD2 (3)	0.16667	0.36364	2.554e-10	2.587e-9	51
Congenital total cataract	Lamellar cataract	4	4	CRYAA (3), HSF4 (3), MIP (3), CRYGB (3)	0.16667	0.36364	2.554e-10	2.587e-9	51
Splenic disease	Splenomegaly	4	4	CYP1A2 (2), FAS (2), APC (2), AHR (2)	0.15385	0.44444	2.596e-10	2.626e-9	
Exudative vitreoretinopathy	Retinopathy of prematurity	4	3	PRSS23 (1), FZD4 (6), NDP (5), LRP5 (5)	0.15385	0.44444	2.596e-10	2.626e-9	189
Platelet-type bleeding disorder	Von willebrand disorder	4	4	ITGA2 (2), ITGA2B (5), P2RY12 (6), GP6 (7)	0.15385	0.44444	2.596e-10	2.626e-9	
Bullous pemphigoid	Pemphigus	4	3	HLA-DQA1 (2), HLA-DRB1 (3), IL2 (1), HLA-DQB1 (3)	0.14286	0.50000	2.637e-10	2.666e-9	1
Digenic alport syndrome	Hematuria	3	3	COL4A5 (2), COL4A3 (5), COL4A4 (6)	0.25000	1.00000	2.712e-10	2.739e-9	91
Right atrial isomerism	Transposition of the great arteries	3	1	UPF1 (1), CERS1 (1), GDF1 (4)	0.25000	1.00000	2.712e-10	2.739e-9	56
Autoimmune hepatitis	T-cell leukemia-lymphoma	6	6	ICOS (2), IL10 (2), IL2 (2), IL4 (2), IFNG (2), CTLA4 (2)	0.08696	0.16667	2.756e-10	2.782e-9	
Anorexia	Hyperkinesia	5	5	GCG (2), IL2 (2), NPY (2), CRHR1 (2), CCK (2)	0.10638	0.27778	2.766e-10	2.791e-9	
Pena-shokeir syndrome 	Postsynaptic congenital myasthenic syndrome	5	5	SCN4A (3), RAPSN (3), CHRND (3), MUSK (4), DOK7 (2)	0.08333	0.41667	2.805e-10	2.829e-9	
Liver neoplasms	Neuroblastoma	14	3	TERT (1), TP53 (2), HLA-DQA1 (1), ESR1 (1), TNF (1), FHIT (2), TRIO (2), KRAS (1), HGF (1), TNFSF10 (1), MYC (1), CDKN2A (1)	0.04828	0.09272	2.820e-10	2.843e-9	4
Bladder cancer	Urinary bladder cancer	4	4	FGFR3 (3), KRAS (2), RB1 (2), HRAS (2)	0.05970	1.00000	3.078e-10	3.102e-9	
Optic neuropathy	Postaxial polydactyly	4	0	ND1 (1), ATP6 (1), ATP8 (1), ND4 (1)	0.14815	0.44444	3.207e-10	3.230e-9	26
Cutaneous squamous cell carcinoma	Seborrheic dermatitis	6	0	FOXP1 (1), RALY (1), IRF4 (1), TYR (1), MC1R (1), SLC45A2 (1)	0.08571	0.16216	3.284e-10	3.306e-9	
Methemoglobinemia	Thalassemia	3	3	HBA1 (5), HBA2 (2), HBB (4)	0.33333	0.60000	3.287e-10	3.306e-9	24
Cerebrooculofacioskeletal syndrome	Xeroderma pigmentosum-cockayne syndrome	3	2	ERCC2 (6), BIVM-ERCC5 (1), ERCC5 (6)	0.33333	0.60000	3.287e-10	3.306e-9	
Cognition disorder	Diabetes complications	5	5	ABCC4 (2), SLC10A2 (2), SLC51B (2), SLC51A (2), NR0B2 (2)	0.08065	0.41667	3.411e-10	3.429e-9	366
Hypopituitarism	Pituitary stalk interruption syndrome	6	1	ROBO1 (2), PROKR2 (1), CHD7 (1), WDR11 (1), NSMF (1), KISS1R (1)	0.08333	0.19355	3.527e-10	3.544e-9	58
Fanconi anemia	Premature ovarian failure	8	6	XRCC2 (7), AOPEP (1), ERCC4 (6), FANCM (7), POLG (1), FANCC (8), FANCA (7), RAD51C (7)	0.05479	0.20513	3.578e-10	3.594e-9	
Hypertension	Venous thromboembolism	60	15	ZFPM2 (1), SH2B3 (1), SPI1 (1), CSMD1 (1), CUX2 (1), DCHS2 (1), LRAT (1), MSRA (1), NUP160 (1), PLCG2 (1), PSMC3 (1), SERPINE1 (3)	0.04190	0.17544	3.599e-10	3.613e-9	34
Cerebral venous sinus thrombosis	Thromboembolism	3	3	PLAU (2), F5 (2), PROS1 (2)	0.23077	1.00000	3.616e-10	3.626e-9	
Imerslund-grasbeck syndrome	Megaloblastic anemia	3	2	CUBN (7), AMN (5), CDC42BPB (1)	0.23077	1.00000	3.616e-10	3.626e-9	100
Cardiofaciocutaneous syndrome	Schimmelpenning-feuerstein-mims syndrome	3	3	KRAS (8), NRAS (3), HRAS (3)	0.23077	1.00000	3.616e-10	3.626e-9	
Complex cortical dysplasia with other brain malformations	Tubulinopathy	3	3	TUBB2A (3), TUBB3 (3), TUBB2B (5)	0.30000	0.75000	3.681e-10	3.683e-9	144
Congenital foot deformity	Congenital hand deformities	3	0	TP63 (1), PTHLH (1), LMNA (1)	0.30000	0.75000	3.681e-10	3.683e-9	30
Autoimmune polyendocrine syndrome	Pemphigus	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.30000	0.75000	3.681e-10	3.683e-9	1
Oropharyngeal neoplasms	Pemphigus	3	3	HLA-DQA1 (3), HLA-DRB1 (3), HLA-DQB1 (3)	0.30000	0.75000	3.681e-10	3.683e-9	1
Familial focal epilepsy with variable foci	Focal epilepsy	3	3	DEPDC5 (5), NPRL2 (6), NPRL3 (5)	0.30000	0.75000	3.681e-10	3.683e-9	
Kidney and ureter calculus	Urolithiasis	4	4	CASR (2), RGS14 (2), SLC34A1 (2), CYP24A1 (2)	0.05714	1.00000	3.692e-10	3.692e-9	
Primary microcephaly	Seckel syndrome	5	5	CENPE (4), CDK5RAP2 (4), CEP152 (7), CEP63 (5), CPAP (7)	0.10204	0.27778	3.778e-10	3.776e-9	137
Distal hereditary motor neuropathy	Neuromuscular disease	6	5	SORD (4), TRPV4 (5), LMNA (1), PLEKHG5 (4), SPTAN1 (3), VWA1 (5)	0.08451	0.16667	3.819e-10	3.815e-9	
Male infertility single gene azoospermia	Premature ovarian failure	11	10	WT1 (1), BNC1 (4), NR5A1 (6), STAG3 (6), XRCC2 (5), C14orf39 (5), MSH5 (6), FANCM (4), DNAH6 (2), MEIOB (4), SYCE1 (6)	0.05213	0.10280	3.832e-10	3.827e-9	11
Interstitial lung disease	Obstructive airway disease	9	6	RTEL1 (1), TERT (4), DSP (2), HLA-DPB1 (2), IL1RN (1), SFTPC (4), FAM13A (2), SFTPA1 (5), TOLLIP (1)	0.05696	0.13636	3.883e-10	3.875e-9	
Diabetic angiopathies	Liver failure	6	6	ASS1 (2), VEGFA (2), TNF (2), ALB (2), IL1RN (2), FASLG (2)	0.08000	0.21429	3.920e-10	3.909e-9	63
Diabetic peripheral angiopathy	Liver failure	6	6	ASS1 (2), VEGFA (2), TNF (2), ALB (2), IL1RN (2), FASLG (2)	0.08000	0.21429	3.920e-10	3.909e-9	63
Hypogonadotropic hypogonadism	Pituitary stalk interruption syndrome	6	5	PROKR2 (7), CHD7 (5), WDR11 (5), NSMF (6), SOX11 (1), KISS1R (6)	0.08219	0.19355	4.037e-10	4.024e-9	58
Pancreatic neoplasms	Pancreatitis	9	9	PTGS2 (2), PTHLH (2), ABO (2), PTCH1 (2), CNR2 (2), CNR1 (2), PRSS1 (4), SPINK1 (4), SST (3)	0.05422	0.15789	4.098e-10	4.082e-9	
Delirium, dementia, and cognitive disorders	Diabetes complications	5	5	ABCC4 (2), SLC10A2 (2), SLC51B (2), SLC51A (2), NR0B2 (2)	0.07813	0.41667	4.116e-10	4.099e-9	366
Neural tube defect	Neural tube defects, susceptibility to	4	4	VANGL2 (5), TBXT (3), FUZ (4), VANGL1 (4)	0.08000	0.80000	4.146e-10	4.127e-9	
Aplastic anemia	Oral submucous fibrosis	5	3	GSTT1 (1), TNF (2), GSTM1 (1), TGFB1 (2), IFNG (4)	0.10417	0.25000	4.237e-10	4.216e-9	
Cerebral hemorrhage	Venous thrombosis	5	0	PLAU (1), PLAT (1), SERPINC1 (1), KDR (1), F7 (1)	0.10638	0.22727	4.243e-10	4.220e-9	36
Rosacea	Sebaceous gland disease	4	0	HERC2 (1), IRF4 (1), MC1R (1), SLC45A2 (1)	0.16000	0.28571	4.257e-10	4.232e-9	
Urinary bladder cancer	Urinary bladder neoplasms	10	10	FGFR3 (3), TERT (2), TACC3 (2), KRAS (2), PSCA (2), NAT2 (2), RB1 (2), HRAS (2), CLPTM1L (2), CCNE1 (2)	0.05025	0.15152	4.391e-10	4.363e-9	
Hyperthyroidism	Multinodular goiter	6	0	NFIA (1), TG (1), FAM227B (1), PRDM11 (1), FGF7 (1), MICOS10 (1)	0.07895	0.21429	4.415e-10	4.384e-9	
Dental enamel hypoplasia	Tooth agenesis	5	0	MSX2 (1), ROBO1 (1), CHCHD5 (1), SMAD2 (1), PAPOLG (1)	0.09434	0.31250	4.444e-10	4.412e-9	
Amino acid metabolism disorder	Urea cycle disorder	4	4	ASL (2), ARG1 (3), NAGS (2), SLC25A15 (2)	0.12903	0.50000	4.449e-10	4.415e-9	
Barrett esophagus	Digestive system disease	9	2	ALDH1A2 (1), BCL3 (1), CRTC1 (1), FOXP1 (2), KHDRBS2 (1), DPP6 (1), GAST (2), BARX1 (1), GOLIM4 (1)	0.05732	0.12500	4.487e-10	4.450e-9	
Bronchopulmonary dysplasia	Lung disease	8	3	GSTP1 (1), GSTT1 (1), IL1B (2), TNF (2), GSTM1 (1), SFTPD (1), SFTPA1 (1), SFTPB (2)	0.05755	0.17778	4.562e-10	4.523e-9	133
Constitutional mismatch repair deficiency	Turcot syndrome	3	3	APC (3), PMS2 (7), MLH1 (7)	0.21429	1.00000	4.701e-10	4.646e-9	39
Digenic alport syndrome	Steroid-resistant nephrotic syndrome	3	3	COL4A5 (2), COL4A3 (2), COL4A4 (2)	0.21429	1.00000	4.701e-10	4.646e-9	
Hyperhomocysteinemia	Malnutrition	3	3	MTHFR (2), CBS (2), MTR (2)	0.21429	1.00000	4.701e-10	4.646e-9	155
Erythrocytosis	Polycythemia, primary familial and congenital	3	3	SH2B3 (3), EPOR (3), JAK2 (3)	0.21429	1.00000	4.701e-10	4.646e-9	
Erythrocytosis	Familial polycythemia	3	3	SH2B3 (3), EPOR (5), JAK2 (3)	0.21429	1.00000	4.701e-10	4.646e-9	
Erythrocytosis	Hemoglobin m disease	3	3	HBA1 (6), HBA2 (6), HBB (7)	0.21429	1.00000	4.701e-10	4.646e-9	24
atypical hemolytic-uremic syndrome	Macular and posterior pole degeneration	3	3	CFI (2), CD46 (2), CFH (2)	0.21429	1.00000	4.701e-10	4.646e-9	32
Urethral obstruction	Ventricular remodeling	5	0	AGT (1), SMAD3 (1), TGFB1 (1), NPPB (1), NPPA (1)	0.10638	0.20000	4.739e-10	4.681e-9	
Polycystic liver disease	Tubulointerstitial kidney disease	4	2	HNF1B (1), SEC61A1 (3), SEC63 (6), RUVBL1 (1)	0.13793	0.44444	4.742e-10	4.682e-9	97
Congenital myasthenic syndrome	Pena-shokeir syndrome 	6	6	SCN4A (3), RAPSN (3), CHRND (3), MUSK (4), SLC18A3 (3), DOK7 (5)	0.07895	0.20690	4.930e-10	4.865e-9	
Dysarthria	Spastic ataxia	6	0	CACNA1A (1), PNPLA6 (1), HARS1 (1), DNMT1 (1), SEPSECS (1), SPG7 (1)	0.06897	0.27273	4.996e-10	4.929e-9	
Essential thrombocythemia	Myeloproliferative disorder	5	5	SH2B3 (3), TP53 (3), MPL (3), JAK2 (4), CALR (3)	0.08065	0.38462	5.018e-10	4.948e-9	98
Complex cortical dysplasia with other brain malformations	Cortical development malformation	4	4	TUBG1 (3), KIF5C (4), TUBB2B (4), KIF2A (3)	0.12500	0.50000	5.222e-10	5.147e-9	144
hearing loss, autosomal recessive	Isolated sensorineural deafness	5	5	TRIOBP (2), PTPRQ (2), PPIP5K2 (2), TMEM132E (2), WBP2 (2)	0.04098	0.71429	5.255e-10	5.177e-9	
Thyroid neoplasms	Transitional cell carcinoma	6	0	TP53 (1), TNF (1), PTGS2 (1), IFNA2 (1), HRAS (1), CCND1 (1)	0.08108	0.18182	5.282e-10	5.201e-9	4
Polyarticular juvenile idiopathic arthritis	Uveomeningoencephalitic syndrome	4	4	FAS (2), HLA-DQB1 (2), PTPN22 (2), STAT4 (3)	0.11111	0.57143	5.352e-10	5.268e-9	
Ap-4 deficiency syndrome	Intellectual disability	4	4	AP4M1 (4), AP4B1 (4), AP4E1 (4), AP4S1 (4)	0.05195	1.00000	5.480e-10	5.389e-9	
Ap4-related intellectual disability and spastic paraplegia	Intellectual disability	4	4	AP4M1 (3), AP4B1 (3), AP4E1 (3), AP4S1 (3)	0.05195	1.00000	5.480e-10	5.389e-9	
Aniridia	Wagr syndrome	3	3	WT1 (5), ELP4 (5), PAX6 (5)	0.27273	0.75000	5.521e-10	5.420e-9	
Carney-stratakis syndrome	Cowden disease	3	3	SDHB (4), SDHD (5), SDHC (5)	0.27273	0.75000	5.521e-10	5.420e-9	78
Homocystinuria with megaloblastic anemia	Intracellular cobalamin metabolism disorder	3	3	MTRR (4), MTR (2), MMADHC (2)	0.27273	0.75000	5.521e-10	5.420e-9	
Hypercalciuria	Idiopathic infantile hypercalcemia	3	3	KL (2), SLC34A1 (5), CYP24A1 (5)	0.27273	0.75000	5.521e-10	5.420e-9	259
Aplastic anemia	Beta thalassemia	5	2	GSTT1 (1), TNF (1), HLA-DQB1 (1), CAD (2), UMPS (2)	0.10204	0.23810	5.553e-10	5.449e-9	
Bone disease	Growth disorder	7	2	LTBP3 (2), IGF2 (1), KCNMA1 (1), NPPC (1), SH3PXD2B (1), AHR (2), AFF4 (1)	0.06306	0.20000	5.578e-10	5.471e-9	
Cardiac conduction disease	Conduction disorder of the heart	4	0	TRPM4 (1), MYH6 (1), SCN5A (1), SCN1B (1)	0.13333	0.44444	5.689e-10	5.577e-9	3
Autoimmune thyroid disease	Immunodeficiency	13	13	IFIH1 (5), RHOH (2), IRF1 (5), IRF4 (3), BACH2 (5), CARD9 (3), IL2RA (2), IL7R (6), TYK2 (3), RASGRP1 (5), CD247 (4), TBX21 (5)	0.04797	0.09353	5.757e-10	5.641e-9	
Cortical development malformation	Polymicrogyria	5	4	DHX37 (1), DYNC1H1 (2), AKT3 (2), WDR62 (2), TUBB2B (3)	0.10417	0.20000	5.810e-10	5.691e-9	
Developmental delay	Melas syndrome	5	3	ND2 (1), COX3 (2), ND5 (2), ND4 (1), CYTB (2)	0.09615	0.27778	5.829e-10	5.704e-9	26
Autoimmune hepatitis	Giant cell arteritis	5	5	HLA-DRB1 (2), IL4 (2), IFNG (2), CCL2 (2), IL18 (2)	0.09615	0.27778	5.829e-10	5.704e-9	46
Oral submucous fibrosis	Sepsis	5	5	TNF (2), IL6 (2), TGFB1 (2), IFNG (2), MMP9 (2)	0.10000	0.25000	5.845e-10	5.717e-9	43
Liver failure	Necrosis	7	7	FAS (2), TNF (2), POMC (2), ATG7 (2), CAST (2), IL1RN (2), KRT18 (2)	0.06931	0.13462	5.903e-10	5.772e-9	63
Congenital microcephaly	Lissencephaly	6	0	FOXG1 (1), CASK (1), ASPM (1), CPAP (1), TUBA3E (1), MZT2B (1)	0.07895	0.19355	5.950e-10	5.815e-9	
Congenital communicating hydrocephalus	Congenital hydrocephalus	3	3	MPDZ (6), WDR81 (4), TRIM71 (5)	0.20000	1.00000	5.983e-10	5.845e-9	298
Gestational diabetes	Hyperglycemia	8	8	INSR (2), LEP (2), IL6 (2), ADIPOQ (2), PAX4 (2), LEPR (3), GCK (2), HNF1A (2)	0.05926	0.15385	6.051e-10	5.908e-9	
Dermatomyositis	Polymyositis	5	3	IL1A (2), IL1B (2), TNF (2), STAT4 (1), PMS1 (1)	0.10204	0.22727	6.060e-10	5.915e-9	22
Hyperalgesia	Temporal lobe epilepsy	7	7	PDYN (2), BDKRB2 (2), CNR1 (2), TRPV1 (2), SLC12A5 (2), GAL (3), BDKRB1 (2)	0.06034	0.21212	6.411e-10	6.254e-9	
Diabetes mellitus type 1	Periodontitis	23	4	GATA4 (1), ZFPM2 (1), CAMK4 (1), CCR7 (1), LRP1B (1), RBFOX1 (1), TCF7L2 (1), TSEN2 (1), IGF2R (2), PPARG (1), IL6 (3), GSTM1 (1)	0.03752	0.14557	6.445e-10	6.285e-9	
Hyperalgesia	Peripheral nervous system disease	8	0	GFAP (1), CACNA1H (1), MMP3 (1), IGF1 (1), IL6 (1), NGF (1), PRKCE (1), ALOX12 (1)	0.05926	0.15094	6.479e-10	6.315e-9	
Deep vein thrombosis	Venous thrombosis	4	4	PLAT (2), SERPINC1 (2), PLG (2), PROC (2)	0.13793	0.40000	6.524e-10	6.353e-9	
Endometrial hyperplasia	Nasopharyngeal carcinoma	4	4	PTEN (2), TP53 (4), KRAS (2), CDKN2A (2)	0.13793	0.40000	6.524e-10	6.353e-9	45
Bethlem myopathy	Collagen vi-related myopathy	3	3	COL6A3 (7), COL6A1 (7), COL6A2 (7)	0.30000	0.50000	6.572e-10	6.395e-9	307
Cerebrooculofacioskeletal syndrome	Cockayne syndrome	3	2	ERCC1 (5), ERCC6 (7), PGBD3 (1)	0.30000	0.50000	6.572e-10	6.395e-9	352
Cognition disorder	Disruptive impulse-control and conduct disorder	4	4	DRD2 (2), DRD3 (2), FOSB (2), OXTR (2)	0.07143	0.80000	6.736e-10	6.551e-9	
Dental caries	Diabetes mellitus type 1	28	5	ADGRL2 (1), FUT2 (1), GLIS3 (3), H4C8 (1), HLA-DQA1 (3), HLA-DRB5 (1), MAF (1), MOG (1), OR5V1 (1), TCF7L2 (1), TLL1 (1), TNXB (1)	0.04112	0.12121	6.874e-10	6.682e-9	
Pancreatic diseases	Proteinuria	4	0	SPP1 (1), POMC (1), ALB (1), LEPR (1)	0.08889	0.66667	7.142e-10	6.940e-9	
Bronchiectasis	Pseudohypoparathyroidism	4	3	LTBR (1), SCNN1A (7), SCNN1B (7), SCNN1G (6)	0.14815	0.30769	7.224e-10	7.016e-9	70
Anemia	Neutropenia	8	7	MTHFR (2), TNF (2), CSF2 (2), CSF3 (2), HOXD13 (2), IFNA2 (1), NUP98 (2), TNFRSF10A (2)	0.05970	0.14035	7.422e-10	7.206e-9	
Diabetic polyneuropathy	Gestational diabetes	5	2	CDKAL1 (2), TCF7L2 (2), HLA-DQB1 (1), KCNQ1 (1), IGF2BP2 (1)	0.05263	0.55556	7.541e-10	7.318e-9	
Hyperalgesia	Non-neoplastic peripheral nervous system disease	8	8	GFAP (2), CACNA1H (2), MMP3 (2), IGF1 (2), IL6 (2), NGF (2), PRKCE (2), ALOX12 (2)	0.05882	0.14815	7.570e-10	7.343e-9	
Dyslipidemias	Hyperlipoproteinemia	5	5	LDLR (2), LPL (4), PPARA (2), LEPR (2), NEIL1 (2)	0.09259	0.27778	7.630e-10	7.395e-9	57
Henoch schoenlein purpura	Interstitial cystitis	5	1	HLA-DQA1 (2), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.09259	0.27778	7.630e-10	7.395e-9	1
Atopic dermatitis	Bronchopulmonary dysplasia	7	1	GSTP1 (1), GSTT1 (1), IL1B (2), MBL2 (1), TNF (1), GSTM1 (1), VDR (1)	0.06667	0.15556	7.649e-10	7.410e-9	
Behcet disease	Vasculitis	7	2	GAK (1), NOS3 (1), ADA2 (4), CTLA4 (2), IL12RB2 (1), CCR3 (1), CPLX1 (1)	0.05469	0.24138	7.726e-10	7.481e-9	
Hereditary breast and ovarian cancer syndrome	Lynch syndrome	5	5	CHEK2 (4), ATM (3), MRE11 (2), PALB2 (2), RAD51D (3)	0.08333	0.33333	7.756e-10	7.507e-9	39
Clonal hematopoiesis	Uterine fibroid	12	0	CHEK2 (1), RTEL1 (1), RUNX1 (1), TERT (1), TTC28 (1), PARP1 (1), THRB (1), ATM (1), STN1 (1), POGLUT3 (1), ELF1 (1), NPAT (1)	0.03419	0.21429	7.822e-10	7.567e-9	
Cervical intraepithelial neoplasia	Nasopharyngeal neoplasms	4	0	HLA-DQA1 (1), HLA-DQB1 (1), HLA-B (1), CLPTM1L (1)	0.08696	0.66667	7.874e-10	7.614e-9	1
Arrhythmogenic right ventricular dysplasia	Polymorphic catecholaminergic ventricular tachycardia	4	1	PKP2 (1), RYR2 (2), SCN5A (1), TTN (1)	0.14815	0.26667	7.908e-10	7.644e-9	3
Spermatogenic failure	Teratozoospermia	7	7	PMFBP1 (4), SPATA16 (4), DNAH10 (5), ARMC2 (5), CFAP43 (5), DNAH1 (5), TTC21A (4)	0.05185	0.25926	7.954e-10	7.684e-9	11
Hepatic insufficiency	Urethral obstruction	4	0	NOS3 (1), RELA (1), TGFB1 (1), NOS2 (1)	0.12500	0.44444	7.999e-10	7.722e-9	80
Bradycardia	Hyperproinsulinemia	4	4	PRL (2), DRD2 (2), GNRH1 (2), LHB (2)	0.12500	0.44444	7.999e-10	7.722e-9	
Ehlers-danlos syndrome	Keratoconus	8	8	COL12A1 (2), COL5A1 (8), PLOD1 (5), SMAD3 (2), COL1A1 (7), LOX (2), ZNF469 (2), COL5A2 (8)	0.05405	0.18182	8.069e-10	7.786e-9	50
Brain aneurysm	Migraine	16	4	CTNNA3 (1), FBN2 (2), LINGO2 (1), PTPRD (1), PLCE1 (1), CNNM2 (1), NT5C2 (1), TRPM8 (3), CFDP1 (1), EDNRA (4), ATP2B1 (1), ESRRG (1)	0.03361	0.18391	8.106e-10	7.818e-9	
Cerebellar atrophy	Polyneuropathy	5	1	DYNC1H1 (1), PNPLA6 (2), SMC1A (1), BIVM-ERCC5 (1), ERCC5 (1)	0.10000	0.20833	8.189e-10	7.894e-9	241
Cone dystrophy	Nystagmus	6	3	CNGB3 (3), GUCY2D (1), RPGRIP1 (2), NMNAT1 (1), KCNV2 (3), RHO (1)	0.07895	0.15789	8.519e-10	8.209e-9	7
Cardiac arrhythmia	Cardiac embolism	8	1	PRRX1 (1), GORAB (1), KCNN3 (1), CAV2 (1), PITX2 (1), ZFHX3 (1), NAV3 (2), NEURL1 (1)	0.05674	0.16000	8.676e-10	8.357e-9	
Arteriosclerosis	Hyperlipoproteinemia	6	5	ABCG8 (1), APOB (2), APOE (5), LDLR (2), NOS3 (2), PON1 (2)	0.07895	0.15000	8.733e-10	8.408e-9	57
Diffuse large b-cell lymphoma	Lymphoma	7	0	BCL2 (1), KMT2D (1), EXOC2 (1), IRF4 (1), CDKN2A (1), EZH2 (1), MYD88 (1)	0.06731	0.13208	8.791e-10	8.460e-9	1
Brain ischemia	Transient ischemic attack	6	5	CYCS (2), SOD2 (2), SOD1 (2), CSF3 (1), IL1RN (2), CASP9 (2)	0.06742	0.25000	8.949e-10	8.608e-9	63
Gastrointestinal stromal tumor	Microform holoprosencephaly	5	5	CDON (3), GLI2 (3), PTCH1 (3), SUFU (3), DISP1 (3)	0.08475	0.31250	9.065e-10	8.716e-9	110
Secondary polycythemia	Thalassemia	3	3	HBA1 (2), HBA2 (2), HBB (2)	0.27273	0.60000	9.201e-10	8.827e-9	24
Telomere syndrome	Telomere-related pulmonary fibrosis and/or bone marrow failure	3	3	RTEL1 (6), TERT (5), PARN (6)	0.27273	0.60000	9.201e-10	8.827e-9	77
Hoyeraal hreidarsson syndrome	Telomere syndrome	3	3	RTEL1 (2), TERT (4), PARN (2)	0.27273	0.60000	9.201e-10	8.827e-9	77
46,xx sex reversal	46,xy partial gonadal dysgenesis	3	3	NR5A1 (3), SOX9 (2), SRY (2)	0.27273	0.60000	9.201e-10	8.827e-9	
Aneuploidy	Chromosomal instability	3	0	CKAP5 (1), AURKA (1), KIF11 (1)	0.27273	0.60000	9.201e-10	8.827e-9	
Henoch schoenlein purpura	Lupus nephritis	5	3	HLA-DQA1 (2), HLA-DRB1 (2), C3 (2), HLA-DQB1 (1), CCL2 (1)	0.08929	0.27778	9.851e-10	9.447e-9	1
Angina pectoris	Oral submucous fibrosis	4	3	TNF (2), MMP1 (2), MMP9 (2), CXCL8 (1)	0.13793	0.33333	1.017e-9	9.749e-9	43
Cachexia	Oral submucous fibrosis	4	3	TNF (2), IL6 (2), PTGS2 (2), CXCL8 (1)	0.13793	0.33333	1.017e-9	9.749e-9	43
Graft-versus-host disease	T-cell leukemia-lymphoma	5	5	IL10 (3), IL2 (2), IFNG (2), CTLA4 (2), TNFSF8 (2)	0.09434	0.23810	1.036e-9	9.922e-9	153
Calcinosis	Cervical disc degenerative disorder	4	4	IL1B (2), TNF (2), TGFB1 (2), COL1A1 (2)	0.08163	0.66667	1.041e-9	9.965e-9	
Catalepsy	Dyskinesia, drug-induced	4	4	DRD1 (2), DRD2 (2), CCK (2), TH (2)	0.14286	0.26667	1.054e-9	1.008e-8	
Aplastic anemia	Hoyeraal hreidarsson syndrome	4	3	ACD (3), TERT (6), POT1 (1), DKC1 (4)	0.10811	0.50000	1.069e-9	1.022e-8	77
Alport syndrome	Hematuria	3	3	COL4A5 (3), COL4A3 (7), COL4A4 (8)	0.23077	0.75000	1.084e-9	1.036e-8	91
Alport syndrome, x-linked	Hematuria	3	3	COL4A5 (4), COL4A3 (4), COL4A4 (5)	0.23077	0.75000	1.084e-9	1.036e-8	91
Sideroblastic anemia	X-linked sideroblastic anemia	3	3	ABCB7 (5), ALAS2 (6), SLC25A38 (5)	0.23077	0.75000	1.084e-9	1.036e-8	
Developmental disability	syndromic intellectual disability	8	8	AUTS2 (2), KDM3B (2), CHD4 (3), ASXL2 (2), CSNK2A1 (2), NAA15 (2), KIF1A (3), KDM6B (2)	0.04651	0.22222	1.104e-9	1.054e-8	
Corneal astigmatism	Open angle glaucoma	14	0	BNC2 (1), HERC2 (1), MADD (1), VAV2 (1), ADAMTS8 (1), ANGPT1 (1), FMNL2 (1), CALN1 (1), LMO7 (1), TNR (1), FLI1 (1), BICC1 (1)	0.03279	0.19718	1.125e-9	1.074e-8	
Diabetic nephropathy type 1	Uveomeningoencephalitic syndrome	3	3	HLA-DQA1 (2), HLA-DQB1 (2), PTPN22 (2)	0.27273	0.50000	1.150e-9	1.097e-8	1
C1 esterase inhibitor deficiency	Terminal complement component deficiency	3	0	C8B (1), C9 (1), C8A (1)	0.27273	0.50000	1.150e-9	1.097e-8	
Neuroblastoma	Stomach neoplasms	18	5	CHEK2 (1), TP53 (2), ARID1A (1), IL1B (1), TNF (1), FHIT (2), RELA (1), KRAS (1), MET (1), LGALS3 (2), MYC (1), CDKN2A (1)	0.04091	0.11921	1.187e-9	1.131e-8	4
Hyperplasia	Ventricular remodeling	5	0	TCF7L2 (1), LEP (1), NFE2L2 (1), AKT1 (1), TGFB1 (1)	0.09615	0.20000	1.217e-9	1.160e-8	
Central nervous system non-hodgkin lymphoma	Nasal polyp	4	0	HLA-DQA1 (1), HLA-DRB1 (1), IRF4 (1), BACH2 (1)	0.09302	0.57143	1.223e-9	1.165e-8	
Contact dermatitis	Obstructive airway disease	9	9	GSTP1 (2), HMOX1 (2), TLR4 (2), CRHR1 (2), CYP1A1 (2), CD86 (2), DEFB1 (2), NQO1 (2), SOD3 (2)	0.05389	0.12000	1.256e-9	1.195e-8	
Mouth neoplasms	Oral cavity carcinoma	6	4	LAMC3 (2), HLA-B (1), ADH1B (2), CLPTM1L (2), PDE2A (1), GPN1 (2)	0.06977	0.21429	1.291e-9	1.228e-8	
Cardiomegaly	Pulmonary hypertension	8	1	NOS3 (1), SOD2 (1), TNF (1), CAV1 (5), HIF1A (1), NPPB (1), EDN1 (1), HTR2B (1)	0.05797	0.13115	1.300e-9	1.236e-8	
Diabetic angiopathies	Sickle cell anemia	5	4	GCH1 (1), NOS3 (2), MTHFR (2), TNF (2), HP (2)	0.09615	0.17857	1.302e-9	1.236e-8	
Diabetic peripheral angiopathy	Sickle cell anemia	5	2	GCH1 (1), NOS3 (1), MTHFR (1), TNF (2), HP (2)	0.09615	0.17857	1.302e-9	1.236e-8	
Cholangiocarcinoma	Thyroid neoplasms	6	0	HNF1B (1), TP53 (1), IL6 (1), PTGS2 (1), KRAS (1), SLC5A5 (1)	0.07595	0.15789	1.302e-9	1.236e-8	4
Autoimmune hepatitis	Urticaria	6	5	HLA-DQA1 (1), HLA-DRB1 (2), HLA-DQB1 (3), TGFB1 (2), HLA-DPB1 (2), IL18 (2)	0.07595	0.15789	1.302e-9	1.236e-8	
Delirium, dementia, and cognitive disorders	Movement disorder	7	5	CRH (2), DRD2 (2), DRD3 (2), MT1A (1), CNR1 (2), FOSB (2), MT2A (1)	0.06542	0.12500	1.311e-9	1.245e-8	
Melas syndrome	Myoclonic epilepsy with ragged red fibers	3	3	IL1A (2), IL1B (2), ND5 (2)	0.15789	1.00000	1.341e-9	1.270e-8	26
Cap myopathy	Nemaline myopathy	3	3	MYPN (3), TPM2 (4), TPM3 (4)	0.15789	1.00000	1.341e-9	1.270e-8	
Bouillaud’s disease	Henoch schoenlein purpura	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.15789	1.00000	1.341e-9	1.270e-8	1
Acute disseminated encephalomyelitis	Henoch schoenlein purpura	3	3	HLA-DRB1 (2), HLA-DRB5 (2), HLA-DQB1 (2)	0.15789	1.00000	1.341e-9	1.270e-8	1
Bouillaud’s disease	Chorea	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.15789	1.00000	1.341e-9	1.270e-8	1
Bladder calculus	Hypertensive nephropathy	5	0	PRKAG2 (1), HBB (1), PDILT (1), OVOL1 (1), SLC22A2 (1)	0.08929	0.25000	1.376e-9	1.302e-8	
Intrahepatic cholestasis of pregnancy	Progressive intrahepatic cholestasis	4	3	NR1H4 (1), ATP8B1 (5), ABCB11 (4), ABCB4 (6)	0.13333	0.30769	1.468e-9	1.389e-8	135
Immunodeficiency	Vitiligo	12	12	PIK3R1 (5), IFIH1 (6), RHOH (2), TNF (4), IRF4 (3), IFNG (4), BACH2 (6), IL2RA (2), FASLG (2), PTPRC (5), IL21R (5), ITPR3 (2)	0.04724	0.09524	1.468e-9	1.389e-8	
Head and neck neoplasms	Uterine neoplasms	6	0	EGFR (1), RARB (1), VEGFA (1), CSF3 (1), BAP1 (1), APOBEC3B (1)	0.07500	0.15789	1.490e-9	1.408e-8	
Hypogonadism	Panhypopituitarism	7	5	IL17RD (1), TACR3 (3), TAC3 (2), GNRH1 (2), KISS1R (1), PROP1 (2), GNRHR (2)	0.06195	0.16279	1.504e-9	1.421e-8	58
Hyperuricemia	Nephrolithiasis	9	2	VEGFA (1), WDR72 (1), UMOD (1), GCKR (1), ABCG2 (5), SLC17A3 (4), BCAS1 (1), SPATA31H1 (1), TMEM171 (1)	0.05114	0.14063	1.505e-9	1.421e-8	180
Congenital pes cavus	Dysarthria	4	0	HARS1 (1), SMC1A (1), BIVM-ERCC5 (1), ERCC5 (1)	0.12903	0.33333	1.535e-9	1.449e-8	
Gastric ulcer	Sepsis	6	6	NOS3 (2), IL1B (2), TNF (2), MMP9 (2), NOS2 (2), ADM (2)	0.07317	0.17647	1.551e-9	1.464e-8	
Cutis laxa	Thoracic aortic aneurysm and aortic dissection	5	3	COL5A1 (1), ELN (8), EFEMP2 (7), LOX (5), SRFBP1 (1)	0.08772	0.25000	1.565e-9	1.477e-8	
Hemangiosarcoma	Thyroid neoplasms	5	0	TP53 (1), CTNNB1 (1), KRAS (1), HRAS (1), CCND1 (1)	0.08333	0.27778	1.583e-9	1.493e-8	4
Dominantly inherited sensory neuropathy	Hereditary sensory and autonomic neuropathy	3	3	DST (7), DNMT1 (3), SCN11A (6)	0.15000	1.00000	1.593e-9	1.500e-8	
Pericarditis	Pericardium disorder	3	0	LRRC3B (1), NEK10 (1), PTPRQ (1)	0.15000	1.00000	1.593e-9	1.500e-8	279
Amyloid neuropathy	Amyloidosis	3	3	APP (2), PSEN1 (2), TTR (6)	0.15000	1.00000	1.593e-9	1.500e-8	
Huntington disease	Mood disorder	12	5	GRIK2 (1), NRF1 (2), BDNF (1), GLUL (1), MAOA (2), MAOB (2), NPY (1), PRNP (6), SIRT1 (1), GRIN2A (1), HTT (8), NPY2R (1)	0.03448	0.19672	1.654e-9	1.557e-8	
Congenital septal defect of heart	Ventricular septal defect	4	2	PCSK5 (1), NKX2-5 (3), CITED2 (4), CRELD1 (1)	0.08696	0.57143	1.663e-9	1.564e-8	
Lupus nephritis	Uveomeningoencephalitic syndrome	4	2	HLA-DQA1 (1), HLA-DRB1 (1), FAS (2), HLA-DQB1 (2)	0.08696	0.57143	1.663e-9	1.564e-8	1
Dyskinesia, drug-induced	Movement disorder	5	5	PDYN (2), DRD1 (2), DRD2 (2), DRD3 (2), FOSB (2)	0.07353	0.33333	1.696e-9	1.594e-8	
Mitral valve prolapse	Tetralogy of fallot	8	8	FBN1 (2), TBX5 (2), TLL1 (3), FLNA (2), GLIS1 (2), DCHS1 (5), LMCD1 (3), DZIP1 (4)	0.05195	0.17021	1.741e-9	1.636e-8	
Ap-4 deficiency syndrome	Hereditary spastic paraplegia	4	4	AP4M1 (3), AP4B1 (3), AP4E1 (3), AP4S1 (3)	0.03922	1.00000	1.744e-9	1.637e-8	
Ap4-related intellectual disability and spastic paraplegia	Hereditary spastic paraplegia	4	4	AP4M1 (2), AP4B1 (2), AP4E1 (2), AP4S1 (2)	0.03922	1.00000	1.744e-9	1.637e-8	
Gastrointestinal stromal tumor	Polydactyly	6	6	GLI3 (4), CC2D2A (2), PTCH1 (2), KIF3A (2), IFT88 (2), GLI1 (5)	0.07407	0.15385	1.757e-9	1.649e-8	
Antiphospholipid syndrome	Lupus nephritis	5	1	HLA-DQA1 (1), HLA-DRB1 (1), CD40LG (1), HLA-DQB1 (2), CRP (1)	0.08621	0.25000	1.775e-9	1.664e-8	1
Chronic obstructive pulmonary disease	Oral submucous fibrosis	5	4	TNF (2), IL6 (2), TGFB1 (2), MMP9 (2), CXCL8 (1)	0.08621	0.25000	1.775e-9	1.664e-8	
Movement disorder	Willis-ekbom disease	10	4	BTBD9 (3), CNTNAP5 (1), MAP2K5 (1), PTPRD (3), GSTM1 (2), MYT1 (1), MEIS1 (3), CCDC148 (1), STK33 (1), LMO1 (1)	0.04184	0.17544	1.774e-9	1.664e-8	
Aplastic anemia	Dyskeratosis congenita	5	3	ACD (6), TERT (8), ZCCHC8 (1), POT1 (1), DKC1 (7)	0.09259	0.19231	1.782e-9	1.669e-8	77
Hypogonadism	Pituitary dwarfism	7	4	IL17RD (1), TACR3 (3), TAC3 (2), GNRH1 (2), KISS1R (1), PROP1 (1), GNRHR (2)	0.06140	0.15909	1.781e-9	1.669e-8	58
Congestive ophthalmopathy	Dermatologic disorder	5	0	SCD (1), IL10 (1), TNF (1), PTGS2 (1), IL1RN (1)	0.06494	0.38462	1.811e-9	1.695e-8	
Dermatologic disorder	Myopathic ophthalmopathy	5	0	SCD (1), IL10 (1), TNF (1), PTGS2 (1), IL1RN (1)	0.06494	0.38462	1.811e-9	1.695e-8	
Gonadal dysgenesis	Swyer syndrome	4	2	NR5A1 (2), SRY (2), DHH (1), DHX37 (1)	0.11429	0.40000	1.823e-9	1.705e-8	149
Hemoglobinuria paroxysmal	Pemphigus	3	3	HLA-DQA1 (2), C3 (2), HLA-DQB1 (2)	0.25000	0.50000	1.840e-9	1.718e-8	
Paroxysmal nocturnal hemoglobinuria	Pemphigus	3	3	HLA-DQA1 (2), C3 (2), HLA-DQB1 (2)	0.25000	0.50000	1.840e-9	1.718e-8	
Cold paroxysmal hemoglobinuria	Pemphigus	3	3	HLA-DQA1 (2), C3 (2), HLA-DQB1 (2)	0.25000	0.50000	1.840e-9	1.718e-8	
46,xx ovotesticular disorder of sex development	46,xy partial gonadal dysgenesis	3	1	NR5A1 (2), SOX9 (1), SRY (1)	0.25000	0.50000	1.840e-9	1.718e-8	
Autoimmune musculoskeletal system disorder	Diffuse cutaneous systemic sclerosis	4	3	HLA-DQA1 (2), HLA-DRB1 (2), STAT4 (2), TNPO3 (1)	0.12500	0.33333	1.857e-9	1.734e-8	
Myeloproliferative disorder	Thrombocythemia	4	4	SH2B3 (4), MPL (6), JAK2 (6), CALR (4)	0.07143	0.66667	1.866e-9	1.740e-8	98
Myeloproliferative disorder	Thrombocytosis	4	4	SH2B3 (3), MPL (4), JAK2 (4), CALR (2)	0.07143	0.66667	1.866e-9	1.740e-8	98
Curling ulcer	Gastric ulcer	4	2	PTGS2 (1), ABO (2), NOS2 (1), PSCA (2)	0.07143	0.66667	1.866e-9	1.740e-8	
Antiphospholipid syndrome	Bouillaud’s disease	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.14286	1.00000	1.874e-9	1.746e-8	1
Alport syndrome	Steroid-resistant nephrotic syndrome	3	3	COL4A5 (3), COL4A3 (6), COL4A4 (6)	0.20000	0.75000	1.880e-9	1.746e-8	
Heimler syndrome	Zellweger spectrum disorder	3	2	PEX6 (5), PEX1 (4), PEX26 (1)	0.20000	0.75000	1.880e-9	1.746e-8	141
Alport syndrome, x-linked	Steroid-resistant nephrotic syndrome	3	3	COL4A5 (4), COL4A3 (2), COL4A4 (2)	0.20000	0.75000	1.880e-9	1.746e-8	
Hypercalcemia	Idiopathic infantile hypercalcemia	3	3	KL (2), SLC34A1 (6), CYP24A1 (5)	0.20000	0.75000	1.880e-9	1.746e-8	259
Hypercalcemia	Kidney and ureter calculus	3	3	CASR (2), SLC34A1 (2), CYP24A1 (2)	0.20000	0.75000	1.880e-9	1.746e-8	259
Hyperhomocysteinemia	Neural tube defects, folate-sensitive	3	3	MTHFR (3), MTRR (3), MTR (2)	0.20000	0.75000	1.880e-9	1.746e-8	155
Liddle syndrome	Pseudohypoparathyroidism	3	3	SCNN1A (7), SCNN1B (7), SCNN1G (8)	0.20000	0.75000	1.880e-9	1.746e-8	70
Autoinflammatory syndrome	Hemophagocytic lymphohistiocytosis	4	4	PRF1 (7), UNC13D (7), STX11 (6), STXBP2 (7)	0.09524	0.50000	1.961e-9	1.821e-8	96
46,xx sex reversal	Swyer syndrome	3	3	NR5A1 (2), SOX9 (2), SRY (3)	0.23077	0.60000	1.971e-9	1.828e-8	
Cornelia de lange syndrome	Wiedemann-steiner syndrome	3	3	KMT2A (6), SMC1A (4), SMC3 (6)	0.23077	0.60000	1.971e-9	1.828e-8	301
Hypochromic microcytic anemia	Iron deficiency anemia	3	2	TF (2), TNF (1), SLC11A2 (3)	0.23077	0.60000	1.971e-9	1.828e-8	245
Cancer	Peptic ulcer disease	15	1	BCL3 (1), FOXP1 (1), HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (2), JAZF1 (1), LINC02210-CRHR1 (1), MAML3 (1), MECOM (1), NSF (1), TTC33 (1), JRK (1)	0.04076	0.12397	1.994e-9	1.848e-8	
Endometriosis	Uterine fibroid	28	5	WT1 (1), ETV6 (1), RUNX1 (1), CDK2AP1 (1), ESR2 (3), ETV1 (1), MTRFR (1), NAALADL2 (1), RSPO3 (1), ESR1 (2), IGF1 (3), RNLS (1)	0.04275	0.09150	2.002e-9	1.855e-8	
Pemphigus vulgaris	Uveomeningoencephalitic syndrome	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.25000	0.42857	2.012e-9	1.862e-8	1
Hereditary hemochromatosis	Iron overload	3	3	TF (3), HAMP (2), SLC40A1 (2)	0.25000	0.42857	2.012e-9	1.862e-8	
Benign hereditary chorea	Pemphigus vulgaris	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.25000	0.42857	2.012e-9	1.862e-8	1
Carney complex	hereditary pheochromocytoma-paraganglioma	3	3	SDHB (3), SDHA (3), SDHC (3)	0.25000	0.42857	2.012e-9	1.862e-8	78
Lymphatic metastasis	Mouth neoplasms	6	0	ANXA1 (1), SOD2 (1), MT1A (1), CDKN2A (1), CLDN1 (1), SFN (1)	0.06818	0.20000	2.021e-9	1.869e-8	4
Nasal polyp	Sinusitis	5	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-B (1), IL33 (1), TSLP (1)	0.08772	0.22727	2.038e-9	1.884e-8	
Brain edema	Cerebral hemorrhage	4	0	PLAU (1), S100B (1), PLAT (1), MMP9 (1)	0.11111	0.40000	2.114e-9	1.953e-8	
Cerebrovascular disorder	Heart valve disease	7	3	ACE (1), IL1B (2), CDK6 (2), CELSR2 (1), LPA (1), PSRC1 (1), PITX2 (2)	0.05882	0.17073	2.157e-9	1.992e-8	
B-cell acute lymphoblastic leukemia	Lymphoblastic leukemia	7	1	IKZF1 (1), PIP4K2A (1), GSDMB (1), ARID5B (1), LHPP (1), FLT3 (2), CEBPE (1)	0.06306	0.12281	2.159e-9	1.993e-8	45
Hereditary hemorrhagic telangiectasia	Pulmonary arterial hypertension	4	4	SMAD4 (4), ENG (7), GDF2 (8), ACVRL1 (7)	0.08163	0.57143	2.213e-9	2.042e-8	
Idiopathic generalized epilepsy	Myoclonic epilepsy	4	4	GABRD (5), GABRA1 (4), CACNB4 (4), CLCN2 (5)	0.12121	0.33333	2.228e-9	2.054e-8	
Hemorrhage	Thromboembolism	4	0	PLAU (1), F2 (1), PLAT (1), F7 (1)	0.12121	0.33333	2.228e-9	2.054e-8	36
Diffuse large b-cell lymphoma	Urinary bladder neoplasms	9	0	CAT (1), NECTIN2 (1), BCL2 (1), FAS (1), SOD2 (1), KMT2D (1), MYC (1), CDKN2A (1), GLI1 (1)	0.04712	0.15789	2.309e-9	2.128e-8	
Potassium deficiency	Primary aldosteronism	4	0	CASZ1 (1), B3GLCT (1), LSP1 (1), RXFP2 (1)	0.12903	0.25000	2.358e-9	2.172e-8	116
Aortic valve disease	Marfan syndrome	7	7	FBN1 (7), NOTCH1 (4), COL5A1 (2), TGFB2 (2), COL1A1 (2), COL3A1 (2), LOX (2)	0.05932	0.16279	2.367e-9	2.180e-8	
Thyroid disease	Toxic nodular goiter	5	0	NFIA (1), INSR (1), TG (1), FAM227B (1), MICOS10 (1)	0.07576	0.29412	2.388e-9	2.197e-8	
Hodgkin disease	Lymphoma	5	0	CSF3 (1), IFNA2 (1), PTPN1 (1), CFLAR (1), TNFSF8 (1)	0.07576	0.29412	2.388e-9	2.197e-8	
Anterior segment mesenchymal dysgenesis	Rieger syndrome	3	1	COL4A1 (1), FOXC1 (1), PITX2 (2)	0.18750	0.75000	2.392e-9	2.200e-8	82
Calcinosis	Fahr's disease	4	4	PDGFRB (2), XPR1 (2), PDGFB (2), SLC20A2 (2)	0.08000	0.57143	2.423e-9	2.225e-8	
Urticaria	Uveomeningoencephalitic syndrome	4	4	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2), PTPN22 (2)	0.08000	0.57143	2.423e-9	2.225e-8	
Hypercholesterolemia	Hypoalphalipoproteinemia	4	4	APOA1 (4), ABCA1 (5), APOB (6), PCSK9 (6)	0.08000	0.57143	2.423e-9	2.225e-8	
Immune system disease	Uveomeningoencephalitic syndrome	4	4	HLA-DQA1 (2), HLA-DRB1 (2), PTPN22 (2), STAT4 (2)	0.08000	0.57143	2.423e-9	2.225e-8	1
Congenital cartilage disorder	Intervertebral disc disease	4	3	COL11A1 (3), TGFB1 (2), COL9A2 (1), COL9A3 (3)	0.10811	0.40000	2.438e-9	2.238e-8	
Cerebral arteriovenous malformations	Intracranial arteriovenous malformation	3	2	IL6 (3), KRAS (3), ENG (1)	0.13043	1.00000	2.531e-9	2.323e-8	
Beta thalassemia	Hemochromatosis	4	4	TFR2 (6), HFE (6), TNF (2), HAMP (6)	0.12500	0.28571	2.536e-9	2.325e-8	148
Graft-versus-host disease	Granulomatosis with polyangiitis	4	4	IL10 (3), HLA-DPB1 (3), CTLA4 (3), PTPN22 (2)	0.12500	0.28571	2.536e-9	2.325e-8	153
Bipolar depression	Panic disorder	7	2	COMT (1), INS (2), HTR1A (1), PDE4B (2), MAOA (1), MBL2 (1), TPH2 (1)	0.05263	0.20588	2.590e-9	2.373e-8	2
Androgenetic alopecia	Diverticular disease	26	2	RREB1 (1), ARHGAP15 (2), BORCS5 (1), PEX14 (1), TRPS1 (1), VAPA (1), LRP1 (1), EFEMP1 (1), PNPT1 (1), BABAM2 (1), BMP7 (1), BTC (1)	0.04114	0.10442	2.601e-9	2.382e-8	
Aplastic anemia	Sickle cell anemia	5	3	GSTT1 (1), TNF (2), HLA-DQB1 (1), CAD (2), UMPS (2)	0.08929	0.17857	2.655e-9	2.431e-8	
Long qt syndrome, digenic	Short qt syndrome	3	2	KCNH2 (5), KCNQ1 (6), SCN5A (1)	0.21429	0.60000	2.710e-9	2.480e-8	
Aniridia	Axenfeld-rieger syndrome	3	3	FOXC1 (6), PAX6 (4), PITX2 (6)	0.23077	0.50000	2.759e-9	2.523e-8	82
Congenital hyperinsulinism	Transient neonatal diabetes mellitus	3	3	ABCC8 (6), KCNJ11 (5), GCK (3)	0.23077	0.50000	2.759e-9	2.523e-8	35
Eosinophilia	Seasonal allergic rhinitis	10	2	EMSY (1), HLA-DQA1 (3), JAZF1 (1), RORA (1), SMAD3 (1), CLEC16A (1), RAD50 (1), TSLP (3), WDR36 (1), XKR6 (1)	0.04926	0.10000	2.761e-9	2.524e-8	103
Intracranial aneurysm	Oral submucous fibrosis	4	4	IL6 (2), MMP9 (2), MMP2 (2), COL1A2 (2)	0.12500	0.26667	2.799e-9	2.557e-8	
Colorectal adenoma	Ovarian serous carcinoma	16	0	PDE4D (1), RTEL1 (1), TERT (1), HLA-DQA1 (1), HLA-DRB1 (1), PREX1 (1), TET2 (1), TTC33 (1), ATXN2 (1), HLA-B (1), SMAD7 (1), EIF3H (1)	0.04061	0.11511	2.819e-9	2.574e-8	21
Leukemia	Myelodysplastic syndrome	6	2	IRF4 (1), JAK2 (2), DNMT3A (2), CFLAR (1), SPHK1 (1), SMPD3 (1)	0.07143	0.13953	2.843e-9	2.596e-8	
Bouillaud’s disease	Bullous pemphigoid	3	3	HLA-DQA1 (2), HLA-DRB1 (3), HLA-DQB1 (3)	0.12500	1.00000	2.911e-9	2.655e-8	1
Acute disseminated encephalomyelitis	Bullous pemphigoid	3	3	HLA-DRB1 (3), HLA-DRB5 (2), HLA-DQB1 (3)	0.12500	1.00000	2.911e-9	2.655e-8	1
Periodontitis	Substance abuse	23	4	ACTN2 (1), AKAP6 (1), CAMTA1 (1), CDH13 (1), DLG2 (1), ERC2 (1), FAM135B (1), GRIK1 (1), KDM4B (1), NKAIN2 (1), RBFOX1 (1), ROBO2 (1)	0.03528	0.14557	2.924e-9	2.666e-8	
Atrioventricular block	Sick sinus syndrome	4	2	LMNA (3), TTN (2), SCN10A (1), CCDC141 (1)	0.12500	0.23529	3.081e-9	2.808e-8	3
Erythematosquamous dermatosis	Rosacea	4	0	HERC2 (1), IRF4 (1), MC1R (1), SLC45A2 (1)	0.12121	0.28571	3.098e-9	2.821e-8	
Hemochromatosis	Iron metabolism disorder	4	4	BMP2 (3), CP (3), HFE (6), FTH1 (6)	0.12121	0.28571	3.098e-9	2.821e-8	148
Diabetic angiopathies	Uveitis	5	3	HLA-DRB1 (1), SERPINF1 (2), SOD2 (2), TNF (1), ALB (2)	0.08772	0.17857	3.125e-9	2.843e-8	
Diabetic peripheral angiopathy	Uveitis	5	3	HLA-DRB1 (1), SERPINF1 (2), SOD2 (2), TNF (1), ALB (2)	0.08772	0.17857	3.125e-9	2.843e-8	
Epilepsy of infancy with migrating focal seizures	genetic developmental and epileptic encephalopathy	4	4	SCN1A (2), SLC12A5 (3), PLCB1 (2), SLC25A22 (2)	0.09524	0.44444	3.144e-9	2.858e-8	
genetic developmental and epileptic encephalopathy	Malignant migrating partial seizures of infancy	4	4	SCN1A (3), SLC12A5 (3), PLCB1 (3), SLC25A22 (3)	0.09524	0.44444	3.144e-9	2.858e-8	
Differentiated thyroid carcinoma	Nonmedullary thyroid cancer	4	4	FOXE1 (3), NRAS (3), HRAS (3), NKX2-1 (2)	0.07547	0.57143	3.145e-9	2.858e-8	
Endometrial neoplasms	Urinary bladder neoplasms	12	2	BPTF (2), ARID1A (1), ESR2 (1), ESR1 (1), MTHFR (1), AKT1 (2), CXCL8 (1), CDH1 (1), MYC (1), TRPV1 (1), EP300 (1), CCND1 (1)	0.04563	0.09091	3.211e-9	2.917e-8	
Carney complex	Paraganglioma	3	3	SDHB (4), SDHA (2), SDHC (4)	0.23077	0.42857	3.219e-9	2.921e-8	78
Carney complex	Pheochromocytoma/paraganglioma syndrome	3	3	SDHB (6), SDHA (6), SDHC (4)	0.23077	0.42857	3.219e-9	2.921e-8	78
Lung disease	Pancreatitis	8	7	SERPINA1 (3), MPO (2), PTGS2 (2), PTHLH (2), HGF (2), HTR4 (1), ADRB2 (3), CFTR (3)	0.05298	0.14035	3.279e-9	2.972e-8	
Diabetic retinopathy	Proliferative diabetic retinopathy	8	2	NRXN3 (1), RBFOX1 (1), SERPINE1 (1), SERPINF1 (1), PPARG (2), HLA-B (2), GOLIM4 (1), STUM (1)	0.04145	0.22222	3.277e-9	2.972e-8	
complex neurodevelopmental disorder	Houge janssens syndrome	4	4	PPP2CA (5), PPP2R5C (2), PPP2R1A (5), PPP2R5D (3)	0.03361	1.00000	3.277e-9	2.972e-8	
Double outlet right ventricle	Ventricular septal defect	4	2	NKX2-5 (3), ISL1 (1), MYCN (1), YES1 (2)	0.08511	0.50000	3.320e-9	3.008e-8	
Progressive myoclonic epilepsy	Unverricht-lundborg syndrome	3	3	SCARB2 (6), PRICKLE1 (7), CSTB (6)	0.12000	1.00000	3.327e-9	3.012e-8	339
Atrial standstill	Hereditary atrial fibrillation	3	3	NPPA (5), SCN5A (3), GJA5 (5)	0.12000	1.00000	3.327e-9	3.012e-8	
Ap-4 deficiency syndrome	Spastic paraplegia	4	4	AP4M1 (4), AP4B1 (5), AP4E1 (5), AP4S1 (5)	0.03306	1.00000	3.508e-9	3.174e-8	
Ap4-related intellectual disability and spastic paraplegia	Spastic paraplegia	4	4	AP4M1 (3), AP4B1 (4), AP4E1 (4), AP4S1 (4)	0.03306	1.00000	3.508e-9	3.174e-8	
Central vertigo	Vestibular disease	3	0	OTOGL (1), LYAR (1), TMEM128 (1)	0.20000	0.60000	3.613e-9	3.266e-8	
Peripheral vertigo	Vestibular disease	3	0	OTOGL (1), LYAR (1), TMEM128 (1)	0.20000	0.60000	3.613e-9	3.266e-8	
Berylliosis	Uveitis	4	4	HLA-DRB1 (2), TNF (2), IL6 (2), TGFB1 (2)	0.10000	0.40000	3.637e-9	3.285e-8	
Delirium	Hyperkinesia	4	4	DRD2 (2), DRD3 (2), SLC6A3 (2), TH (2)	0.10000	0.40000	3.637e-9	3.285e-8	
Lymphocytic b-cell leukemia	Lymphoid leukemia	5	5	TP53 (2), IRF4 (2), SP140 (2), ACOXL (2), BMF (2)	0.08621	0.17857	3.659e-9	3.303e-8	89
Methylmalonic acidemia	Vitamin b deficiency	4	4	CD320 (7), MMAA (8), ABCD4 (7), MMUT (8)	0.11111	0.33333	3.675e-9	3.316e-8	
Basal cell nevus syndrome	Microform holoprosencephaly	3	3	GLI2 (3), PTCH1 (5), SUFU (5)	0.16667	0.75000	3.680e-9	3.318e-8	
Congenital fibrosis of extraocular muscles	Tubulinopathy	3	3	TUBB3 (4), TUBB2B (4), TUBA1A (3)	0.16667	0.75000	3.680e-9	3.318e-8	144
Narcolepsy	Pemphigus vulgaris	4	3	HLA-DQA1 (2), HLA-DQB3 (1), HLA-DRB1 (4), HLA-DQB1 (4)	0.07273	0.57143	3.708e-9	3.342e-8	1
Partial epilepsy	Rolandic epilepsy	6	3	GRIN2A (3), SCN1A (2), SCN2A (1), DEPDC5 (1), KCNT1 (2), SPTAN1 (1)	0.06977	0.13636	3.757e-9	3.385e-8	
Bilateral perisylvian polymicrogyria	Polymicrogyria	3	3	PI4KA (3), ADGRG1 (4), SRPX2 (2)	0.11538	1.00000	3.781e-9	3.405e-8	
Hodgkin lymphoma	Hyperthyroidism	8	1	HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (1), HLA-DQB1 (2), PTPN22 (1), NCOA5 (1), LPP (1), TSBP1 (1)	0.05096	0.15094	3.825e-9	3.443e-8	
Brain ischemia	Peripheral nervous system disease	7	7	ICAM1 (2), IGF1 (2), SOD2 (2), IL6 (2), CSF3 (2), JUN (2), CASP9 (2)	0.05983	0.13208	3.853e-9	3.467e-8	
Arrhythmogenic right ventricular cardiomyopathy	Neuromuscular disease	6	4	ACTN2 (1), RYR1 (1), LMNA (2), LDB3 (2), MYH7 (3), TTN (2)	0.06897	0.15000	3.872e-9	3.483e-8	
Sezary syndrome	T-cell leukemia-lymphoma	5	2	CARD11 (1), CD28 (2), CTLA4 (2), PLCG1 (1), CCR4 (1)	0.08475	0.18519	4.069e-9	3.658e-8	
Aplasia of the vermis	Polydactyly	6	1	KIF7 (1), CPLANE1 (1), CC2D2A (1), KIAA0586 (2), MKS1 (1), OFD1 (1)	0.06818	0.15385	4.171e-9	3.749e-8	8
Mitochondrial myopathy	Polymyositis	4	4	IL1A (2), IL1B (2), TNF (2), IL6 (2)	0.11765	0.26667	4.221e-9	3.792e-8	
Congenital communicating hydrocephalus	Hydrocephalus	3	3	MPDZ (2), WDR81 (2), TRIM71 (2)	0.11111	1.00000	4.274e-9	3.838e-8	298
Central nervous system non-hodgkin lymphoma	Lymphoma	4	0	HLA-DQA1 (1), HLA-DRB1 (1), EXOC2 (1), IRF4 (1)	0.07018	0.57143	4.344e-9	3.898e-8	1
Lymphoma	Uveomeningoencephalitic syndrome	4	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2), IFNA2 (1)	0.07018	0.57143	4.344e-9	3.898e-8	1
Brain ischemia	Non-neoplastic peripheral nervous system disease	7	5	ICAM1 (2), IGF1 (1), SOD2 (2), IL6 (2), CSF3 (1), JUN (2), CASP9 (2)	0.05932	0.12963	4.411e-9	3.956e-8	
Cortical dysplasia with other brain malformations	Tubulinopathy	3	3	TUBB2A (5), TUBB3 (4), TUBB2B (5)	0.15789	0.75000	4.468e-9	4.004e-8	144
Bronchiectasis	Liddle syndrome	3	3	SCNN1A (6), SCNN1B (6), SCNN1G (8)	0.15789	0.75000	4.468e-9	4.004e-8	70
Autosomal recessive ataxia	Zellweger spectrum disorder	3	3	PEX10 (4), PEX16 (3), PEX2 (3)	0.18750	0.60000	4.697e-9	4.206e-8	
Basal ganglia disease	Disruptive impulse-control and conduct disorder	3	3	PRL (2), DRD2 (2), DRD3 (2)	0.18750	0.60000	4.697e-9	4.206e-8	
Scleroderma	Stevens-johnson syndrome	6	6	TAP2 (2), CAV1 (2), HLA-DQB1 (2), CSF3 (2), PSORS1C1 (2), HLA-A (2)	0.05941	0.21429	4.790e-9	4.287e-8	
Mycosis fungoides	Sezary syndrome	3	1	CD28 (1), CTLA4 (1), TNFRSF1B (2)	0.10714	1.00000	4.808e-9	4.302e-8	
Cowden disease	hereditary pheochromocytoma-paraganglioma	3	3	SDHB (3), SDHD (3), SDHC (3)	0.21429	0.42857	4.827e-9	4.314e-8	78
Cardiac conduction disease	Hereditary bundle branch system defect	3	0	TRPM4 (1), SCN5A (1), SCN1B (1)	0.21429	0.42857	4.827e-9	4.314e-8	3
Congenital arteriovenous malformation	Epidermal nevus	3	2	HRAS (3), PIK3CA (3), LRRC56 (1)	0.21429	0.42857	4.827e-9	4.314e-8	17
Congenital myasthenic syndrome	Fetal akinesia deformation sequence	4	4	RAPSN (6), MUSK (5), SLC18A3 (4), DOK7 (8)	0.10526	0.33333	4.969e-9	4.439e-8	5
Hyperammonemia	Urea cycle disorder	3	3	CPS1 (3), NAGS (6), OTC (3)	0.21429	0.37500	5.149e-9	4.597e-8	202
Dyslipidemias	Hepatomegaly	5	5	LDLR (2), PPARA (2), NR5A2 (2), SLC29A3 (4), LEPR (2)	0.06944	0.27778	5.246e-9	4.681e-8	
Connective tissue disease	Myopia	11	3	COL2A1 (2), FBN1 (1), COL11A1 (1), FBN2 (1), FLNA (1), EFEMP1 (1), MYH11 (1), NDE1 (1), ZNF469 (1), COL9A1 (2), SLC39A13 (2)	0.04583	0.09402	5.245e-9	4.681e-8	
Constitutional mismatch repair deficiency	Rhabdomyosarcoma	4	4	MSH2 (7), MSH6 (7), PMS2 (7), MLH1 (6)	0.10811	0.30769	5.302e-9	4.729e-8	39
Autoimmune polyendocrine syndrome	Chorea	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.15000	0.75000	5.361e-9	4.770e-8	1
Chorea	Oropharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.15000	0.75000	5.361e-9	4.770e-8	1
Anterior polar cataract	Nuclear cataract	3	3	CRYAA (2), CRYBB3 (2), CRYBA2 (2)	0.15000	0.75000	5.361e-9	4.770e-8	51
Hemangiosarcoma	Penile neoplasms	3	0	TP53 (1), KRAS (1), HRAS (1)	0.15000	0.75000	5.361e-9	4.770e-8	
Cecal neoplasms	Hemangiosarcoma	3	0	CTNNB1 (1), KRAS (1), CCND1 (1)	0.15000	0.75000	5.361e-9	4.770e-8	
Autoimmune polyendocrine syndrome	Henoch schoenlein purpura	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.15000	0.75000	5.361e-9	4.770e-8	1
Collagen vi-related myopathy	Hematuria	3	3	COL4A5 (2), COL4A3 (4), COL4A4 (5)	0.20000	0.50000	5.418e-9	4.815e-8	
Posterior subcapsular cataract	Sutural cataract	3	3	CRYBB2 (2), MIP (3), CRYBA1 (3)	0.20000	0.50000	5.418e-9	4.815e-8	51
Estrogen-receptor negative breast cancer	Ovarian epithelial cancer	15	0	HNF1B (1), TERT (1), BNC2 (1), HLA-DRB5 (1), JAZF1 (1), LSAMP (1), MECOM (1), NSF (1), ZFHX3 (1), MLLT10 (1), NEK10 (1), SEMA4D (1)	0.03778	0.13043	5.416e-9	4.815e-8	21
Corneal disease	Eye disease	5	0	COL5A1 (1), TCF4 (1), RXRA (1), COL24A1 (1), LAMB1 (1)	0.04902	0.41667	5.830e-9	5.179e-8	
Nausea	Neutropenia	4	3	TNF (2), IFNA2 (1), TNFRSF10A (2), ABCB1 (2)	0.06557	0.57143	5.856e-9	5.200e-8	
Mitochondrial dna depletion syndrome	Mitochondrial hepatopathy	3	2	POLG (5), TWNK (5), POLGARF (1)	0.10000	1.00000	6.006e-9	5.327e-8	181
Arterial tortuosity syndrome	Congenital contractural arachnodactyly	3	3	SLC2A10 (6), EFEMP2 (2), EMILIN1 (6)	0.10000	1.00000	6.006e-9	5.327e-8	
Cerebral hemorrhage	Hematoma	3	0	S100B (1), PLAT (1), F7 (1)	0.10000	1.00000	6.006e-9	5.327e-8	
Brachydactyly	Chondrodysplasia	4	3	BMPR1B (7), GDF5 (7), CHST11 (1), PTH1R (5)	0.11429	0.23529	6.014e-9	5.331e-8	
Obstructive sleep apnea syndrome	Sleep apnea	7	1	SLC39A8 (1), NRG1 (2), FTO (1), METTL15 (1), DLEU7 (1), MSRB3 (1), ETV5 (1)	0.05645	0.14286	6.153e-9	5.453e-8	125
Growth hormone deficiency	Pituitary stalk interruption syndrome	5	0	PROKR2 (1), CHD7 (1), WDR11 (1), NSMF (1), KISS1R (1)	0.08197	0.16129	6.296e-9	5.577e-8	58
Nephrosclerosis	Urethral obstruction	4	4	TGFB1 (2), ACTA2 (2), COL3A1 (2), HIPK2 (2)	0.10811	0.28571	6.319e-9	5.595e-8	
Hyperparathyroidism	Parathyroid disease	3	0	TMEM14B (1), C1orf185 (1), MAFB (1)	0.14286	0.75000	6.366e-9	5.635e-8	
Intellectual disability	West syndrome	6	0	GRIN2B (1), SCN8A (1), ST3GAL3 (1), SCN1A (1), STXBP1 (1), TSC2 (1)	0.05941	0.20000	6.391e-9	5.654e-8	
B-lymphoblastic leukemia/lymphoma	Lymphoblastic leukemia	5	5	IKZF1 (2), PIP4K2A (2), PAX5 (4), FLT3 (2), BCR (2)	0.06944	0.26316	6.493e-9	5.742e-8	45
Developmental delay	Leber hereditary optic neuropathy	5	5	ND2 (2), COX3 (2), ND5 (2), ND4 (2), CYTB (2)	0.08065	0.17857	6.567e-9	5.806e-8	26
Bone resorption	Osteolysis	3	0	PTHLH (1), TNFRSF11B (1), TNFSF11 (1)	0.20000	0.42857	6.894e-9	6.090e-8	259
Absence epilepsy	Childhood absence epilepsy	3	3	CACNA1H (5), GABRB3 (5), JRK (2)	0.20000	0.42857	6.894e-9	6.090e-8	227
Status epilepticus	Temporal lobe epilepsy	6	6	VEGFA (2), CNR1 (2), GRM1 (2), GRM5 (2), SLC12A5 (2), AQP4 (2)	0.06122	0.18182	7.131e-9	6.296e-8	
Hypotrichosis simplex	Woolly hair	3	3	KRT74 (6), LIPH (3), LPAR6 (4)	0.18750	0.50000	7.223e-9	6.362e-8	
Intestinal obstruction	Visceral neuropathy	3	3	ERBB3 (4), ACTG2 (2), TYMP (2)	0.18750	0.50000	7.223e-9	6.362e-8	
Diabetic nephropathy type 1	Latent autoimmune diabetes in adults	3	0	HLA-DQA1 (1), HLA-DQB1 (1), PTPN22 (1)	0.18750	0.50000	7.223e-9	6.362e-8	1
Congenital cystic eyeball	Nanophthalmos	3	3	PRSS56 (2), RAX (2), ALDH1A3 (2)	0.18750	0.50000	7.223e-9	6.362e-8	52
Cardiofaciocutaneous syndrome	Congenital malformation syndromes associated with short stature	3	2	BRAF (7), PTPN11 (3), RIT1 (1)	0.18750	0.50000	7.223e-9	6.362e-8	49
Oropharyngeal cancer	Pemphigus vulgaris	4	1	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (2), THSD7B (1)	0.06250	0.57143	7.226e-9	6.362e-8	
Graves disease	Kawasaki disease	8	3	BTNL2 (1), VEGFA (1), TNF (1), CD40LG (1), HLA-DQB1 (2), CD40 (3), LTA (2), TSBP1 (1)	0.05128	0.12500	7.211e-9	6.362e-8	
Selective iga deficiency disease	Selective immunoglobulin a deficiency	3	3	IFIH1 (2), CLEC16A (2), AHI1 (2)	0.09375	1.00000	7.389e-9	6.503e-8	369
Diabetic cardiomyopathy	Hypoglycemia	4	3	INS (2), TNF (2), INS-IGF2 (1), AGTR2 (2)	0.10526	0.28571	7.414e-9	6.522e-8	
Carotid artery disease	Hyperinsulinism	6	5	AGT (2), HMOX1 (2), CCL2 (2), LTA (1), UCP2 (2), CD163 (2)	0.06522	0.14286	7.453e-9	6.554e-8	35
Cerebral saccular aneurysm	Intracranial aneurysm	3	3	THSD1 (2), ENG (2), ANGPTL6 (3)	0.16667	0.60000	7.470e-9	6.559e-8	350
46,xx sex reversal	46,xy gonadal dysgenesis	3	3	NR5A1 (2), SOX9 (2), SRY (2)	0.16667	0.60000	7.470e-9	6.559e-8	
Disruptive impulse-control and conduct disorder	Dyskinesia, drug-induced	3	3	DRD2 (2), DRD3 (2), FOSB (2)	0.16667	0.60000	7.470e-9	6.559e-8	118
Arrhythmogenic right ventricular dysplasia	Paroxysmal familial ventricular fibrillation	3	1	DSP (1), RYR2 (1), SCN5A (2)	0.16667	0.60000	7.470e-9	6.559e-8	3
Antiphospholipid syndrome	Autoimmune polyendocrine syndrome	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.13636	0.75000	7.489e-9	6.571e-8	1
Antiphospholipid syndrome	Oropharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.13636	0.75000	7.489e-9	6.571e-8	1
Cowden disease	Paraganglioma	3	3	SDHB (5), SDHD (4), SDHC (5)	0.20000	0.37500	7.721e-9	6.768e-8	78
Cowden disease	Pheochromocytoma/paraganglioma syndrome	3	3	SDHB (6), SDHD (5), SDHC (5)	0.20000	0.37500	7.721e-9	6.768e-8	78
Giant cell arteritis	Graft-versus-host disease	4	3	IFNG (2), IL17A (2), PTPN22 (2), FCGR3A (1)	0.11111	0.22222	7.726e-9	6.770e-8	
Hereditary hemorrhagic telangiectasia	Pulmonary hypertension	4	4	SMAD4 (3), ENG (7), GDF2 (7), ACVRL1 (7)	0.06154	0.57143	7.732e-9	6.772e-8	
Eye disease	Myopia	10	10	ABCA1 (2), EFEMP1 (2), HLA-DQB1 (2), KCNQ5 (3), PRSS56 (3), LRP2 (2), LAMA2 (3), GJD2 (3), RDH5 (3), TYR (2)	0.04587	0.10638	8.031e-9	7.032e-8	262
Microcephaly, epilepsy, and diabetes syndrome	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	2	2	IER3IP1 (7), YIPF5 (4)	0.66667	1.00000	8.436e-9	7.203e-8	
Mitral valve disease	Rheumatic disease of mitral valve	2	0	ACE (1), MTHFR (1)	0.66667	1.00000	8.436e-9	7.203e-8	60
Mitral valve disease	Rheumatic mitral regurgitation	2	0	ACE (1), MTHFR (1)	0.66667	1.00000	8.436e-9	7.203e-8	60
Polycystic kidney disease with tuberous sclerosis	Polycystic kidneys, severe infantile with tuberous sclerosis	2	2	PKD1 (2), TSC2 (2)	0.66667	1.00000	8.436e-9	7.203e-8	48
Postictal aphasia	Syntactic aphasia	2	0	PLAT (1), L1CAM (1)	0.66667	1.00000	8.436e-9	7.203e-8	29
Posttraumatic porencephalic cyst of brain	Vascular leukoencephalopathy	2	2	COL4A2 (2), COL4A1 (2)	0.66667	1.00000	8.436e-9	7.203e-8	33
Rheumatic disease of mitral valve	Rheumatic mitral regurgitation	2	0	ACE (1), MTHFR (1)	0.66667	1.00000	8.436e-9	7.203e-8	60
Glanzmann thrombasthenia	platelet-type bleeding disorder 16	2	2	ITGB3 (8), ITGA2B (8)	0.66667	1.00000	8.436e-9	7.203e-8	67
Hemolytic disease of fetus and newborn	Rh isoimmunization	2	1	RHD (2), RSRP1 (1)	0.66667	1.00000	8.436e-9	7.203e-8	306
Ochoa syndrome	Urofacial syndrome	2	2	HPSE2 (6), LRIG2 (6)	0.66667	1.00000	8.436e-9	7.203e-8	
Keratosis follicularis spinulosa decalvans, x-linked	Olmsted syndrome, x-linked	2	1	MBTPS2 (6), YY2 (1)	0.66667	1.00000	8.436e-9	7.203e-8	346
Malignant peripheral nerve sheath tumor	Malignant triton tumor	2	0	SH3PXD2A (1), HTRA1 (1)	0.66667	1.00000	8.436e-9	7.203e-8	
Epidermolytic hyperkeratosis	Epidermolytic ichthyosis	2	2	KRT1 (5), KRT10 (6)	0.66667	1.00000	8.436e-9	7.203e-8	187
erythrocytosis, familial, 7	methemoglobinemia, alpha type	2	0	HBA1 (1), HBA2 (1)	0.66667	1.00000	8.436e-9	7.203e-8	24
Erythroid hypoplasia	Ovarian agenesis	2	0	DIPK1A (1), RPL5 (1)	0.66667	1.00000	8.436e-9	7.203e-8	240
Familial ventricular tachycardia	Ventricular tachycardia	2	1	GNAI2 (4), ABCA5 (1)	0.66667	1.00000	8.436e-9	7.203e-8	
Congenital factor xiii deficiency	Factor xiii deficiency	2	2	F13A1 (8), F13B (7)	0.66667	1.00000	8.436e-9	7.203e-8	354
Congenital hypoplastic anemia	Hypoplastic anemia	2	2	CAD (2), UMPS (2)	0.66667	1.00000	8.436e-9	7.203e-8	347
Congenital porencephaly	Vascular leukoencephalopathy	2	2	COL4A2 (2), COL4A1 (2)	0.66667	1.00000	8.436e-9	7.203e-8	33
Congenital porencephaly	Posttraumatic porencephalic cyst of brain	2	0	COL4A2 (1), COL4A1 (1)	0.66667	1.00000	8.436e-9	7.203e-8	33
Congenital reticular ichthyosiform erythroderma	Epidermolytic ichthyosis	2	2	KRT1 (4), KRT10 (5)	0.66667	1.00000	8.436e-9	7.203e-8	187
Congenital reticular ichthyosiform erythroderma	Epidermolytic hyperkeratosis	2	2	KRT1 (5), KRT10 (5)	0.66667	1.00000	8.436e-9	7.203e-8	187
Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome	Developmental delay with short stature and dysmorphic facial features	2	2	DPH1 (8), DPH2 (4)	0.66667	1.00000	8.436e-9	7.203e-8	
17p11.2 microduplication syndrome	Potocki-lupski syndrome	2	2	FLCN (4), RAI1 (5)	0.66667	1.00000	8.436e-9	7.203e-8	285
Amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia	2	2	MPL (7), THPO (6)	0.66667	1.00000	8.436e-9	7.203e-8	98
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Autoinflammatory disease, systemic, x-linked	2	1	G6PD (1), IKBKG (4)	0.66667	1.00000	8.436e-9	7.203e-8	12
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Bloch sulzberger syndrome	2	1	G6PD (1), IKBKG (2)	0.66667	1.00000	8.436e-9	7.203e-8	12
Aniridia-cerebellar ataxia-intellectual disability syndrome	Gillespie syndrome	2	2	ITPR1 (6), PAX6 (3)	0.66667	1.00000	8.436e-9	7.203e-8	
Annular epidermolytic ichthyosis	Epidermolytic ichthyosis	2	2	KRT1 (3), KRT10 (4)	0.66667	1.00000	8.436e-9	7.203e-8	187
Annular epidermolytic ichthyosis	Congenital reticular ichthyosiform erythroderma	2	2	KRT1 (3), KRT10 (5)	0.66667	1.00000	8.436e-9	7.203e-8	187
Annular epidermolytic ichthyosis	Epidermolytic hyperkeratosis	2	2	KRT1 (5), KRT10 (6)	0.66667	1.00000	8.436e-9	7.203e-8	187
Anosmia	Congenital anosmia	2	2	CNGA2 (2), TENM1 (2)	0.66667	1.00000	8.436e-9	7.203e-8	
Aphasia	Postictal aphasia	2	2	PLAT (2), L1CAM (2)	0.66667	1.00000	8.436e-9	7.203e-8	29
Aphasia	Commisural aphasia	2	2	PLAT (2), L1CAM (2)	0.66667	1.00000	8.436e-9	7.203e-8	29
Aphasia	Dejerine-lichtheim phenomenon	2	2	PLAT (2), L1CAM (2)	0.66667	1.00000	8.436e-9	7.203e-8	29
Aphasia	Syntactic aphasia	2	2	PLAT (2), L1CAM (2)	0.66667	1.00000	8.436e-9	7.203e-8	29
Boichis syndrome	Senior-boichis syndrome	2	2	TMEM67 (3), DCDC2 (3)	0.66667	1.00000	8.436e-9	7.203e-8	315
Cerebellar ataxia and hypogonadotropic hypogonadism	Cerebellar ataxia-hypogonadism	2	2	PNPLA6 (2), RNF216 (5)	0.66667	1.00000	8.436e-9	7.203e-8	121
Cerebral small vessel disease	Vascular leukoencephalopathy	2	2	COL4A2 (3), COL4A1 (2)	0.66667	1.00000	8.436e-9	7.203e-8	33
Cerebral small vessel disease	Congenital porencephaly	2	1	COL4A2 (2), COL4A1 (1)	0.66667	1.00000	8.436e-9	7.203e-8	33
Cerebral small vessel disease	Posttraumatic porencephalic cyst of brain	2	1	COL4A2 (2), COL4A1 (1)	0.66667	1.00000	8.436e-9	7.203e-8	33
Cerebrofacioarticular syndrome	Van maldergem syndrome	2	2	FAT4 (6), DCHS1 (7)	0.66667	1.00000	8.436e-9	7.203e-8	
Cervical dysplasia	Uterine disease	2	2	MTHFR (2), POU4F1 (2)	0.66667	1.00000	8.436e-9	7.203e-8	60
Cholesterol embolism	Intracranial embolism and thrombosis	2	2	PLAU (2), PLAT (2)	0.66667	1.00000	8.436e-9	7.203e-8	29
Choroidal dystrophy	Choroidal sclerosis	2	2	PRPH2 (5), GUCY2D (4)	0.66667	1.00000	8.436e-9	7.203e-8	69
Autoinflammatory disease, systemic, x-linked	Bloch sulzberger syndrome	2	1	G6PD (1), IKBKG (3)	0.66667	1.00000	8.436e-9	7.203e-8	12
Axenfeld anomaly	Iridogoniodysgenesis	2	2	FOXC1 (3), PITX2 (3)	0.66667	1.00000	8.436e-9	7.203e-8	82
Combined cellular and humoral immune defects with granulomas	Combined immunodeficiency with skin granulomas	2	2	RAG1 (4), RAG2 (4)	0.66667	1.00000	8.436e-9	7.203e-8	176
Combined deficiency of factor v and factor viii	Combined factor v and factor viii deficiency	2	2	LMAN1 (8), MCFD2 (7)	0.66667	1.00000	8.436e-9	7.203e-8	
Commisural aphasia	Postictal aphasia	2	0	PLAT (1), L1CAM (1)	0.66667	1.00000	8.436e-9	7.203e-8	29
Commisural aphasia	Dejerine-lichtheim phenomenon	2	0	PLAT (1), L1CAM (1)	0.66667	1.00000	8.436e-9	7.203e-8	29
Commisural aphasia	Syntactic aphasia	2	0	PLAT (1), L1CAM (1)	0.66667	1.00000	8.436e-9	7.203e-8	29
Common arterial trunk with aortic dominance	Common arterial trunk with pulmonary dominance and interrupted aortic arch	2	0	TBX1 (1), GATA6 (1)	0.66667	1.00000	8.436e-9	7.203e-8	290
Cone monochromatism	X-linked cone dysfunction syndrome with myopia	2	2	OPN1LW (3), OPN1MW (3)	0.66667	1.00000	8.436e-9	7.203e-8	217
Cone-rod dystrophy, x-linked	X-linked cone-rod dystrophy	2	2	CACNA1F (4), RPGR (4)	0.66667	1.00000	8.436e-9	7.203e-8	385
Congenital asplenia	Splenic hypoplasia	2	2	NKX2-5 (2), RPSA (3)	0.66667	1.00000	8.436e-9	7.203e-8	166
Congenital cerebral aneurysm	Congenital malformation of cerebral vessels	2	0	PDCD10 (1), CCM2 (1)	0.66667	1.00000	8.436e-9	7.203e-8	249
Congenital erythropoietic porphyria	Cutaneous porphyria	2	2	GATA1 (2), UROS (4)	0.66667	1.00000	8.436e-9	7.203e-8	132
Deafness enamel hypoplasia nail defects	Deafness-enamel hypoplasia-nail defects syndrome	2	2	PEX6 (3), PEX1 (3)	0.66667	1.00000	8.436e-9	7.203e-8	141
Deafness with congenital onychodystrophy	Doors syndrome	2	2	TBC1D24 (4), ATP6V1B2 (5)	0.66667	1.00000	8.436e-9	7.203e-8	105
Deafness-infertility syndrome	Deafness, sensorineural, and male infertility	2	2	STRC (5), CATSPER2 (5)	0.66667	1.00000	8.436e-9	7.203e-8	
Dejerine-lichtheim phenomenon	Postictal aphasia	2	0	PLAT (1), L1CAM (1)	0.66667	1.00000	8.436e-9	7.203e-8	29
Dejerine-lichtheim phenomenon	Syntactic aphasia	2	0	PLAT (1), L1CAM (1)	0.66667	1.00000	8.436e-9	7.203e-8	29
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	2	2	SLC34A1 (3), NHERF1 (3)	0.66667	1.00000	8.436e-9	7.203e-8	
B-cell acute lymphoblastic leukemia	B-lymphoblastic leukemia/lymphoma	5	5	IKZF1 (2), PIP4K2A (2), GATA3 (2), CDKN2A (2), FLT3 (2)	0.06667	0.26316	8.450e-9	7.212e-8	45
Papilloma	Transitional cell carcinoma	4	0	PTGS2 (1), CDKN1A (1), HRAS (1), CCND1 (1)	0.09524	0.33333	8.547e-9	7.292e-8	
Hyperlipoproteinemia	Hypertriglyceridemia	5	5	APOB (2), LPL (5), PPARA (2), CETP (2), APOA5 (6)	0.07813	0.17857	8.588e-9	7.324e-8	57
Blindness	Stargardt disease	4	3	ABCA4 (4), LCA5 (2), RPE65 (2), RHO (1)	0.10256	0.28571	8.645e-9	7.370e-8	
Beta thalassemia	Digenic hemochromatosis	3	3	TFR2 (3), HFE (2), HAMP (3)	0.13043	0.75000	8.737e-9	7.440e-8	148
Epidermolysis bullosa	Weber-cockayne syndrome	3	3	KRT5 (7), ITGB4 (5), KRT14 (7)	0.13043	0.75000	8.737e-9	7.440e-8	
Anti-glomerular basement membrane disease	Graft-versus-host disease	3	1	HLA-DPB1 (1), CTLA4 (2), FCGR3A (1)	0.13043	0.75000	8.737e-9	7.440e-8	
Cancer	Ovarian epithelial cancer	14	0	HNF1B (1), TERT (1), BNC2 (1), HLA-DRB5 (1), JAZF1 (1), MECOM (1), NSF (1), TTC28 (1), ZFHX3 (1), MLLT10 (1), NEK10 (1), CCDC170 (1)	0.03857	0.12174	8.840e-9	7.525e-8	21
atypical hemolytic-uremic syndrome	Hemolytic uremic syndrome	3	3	CFI (6), CD46 (6), CFH (6)	0.08824	1.00000	8.968e-9	7.622e-8	32
Sarcoma	Synovial sarcoma	3	3	SS18 (2), SSX1 (2), SSX2 (3)	0.08824	1.00000	8.968e-9	7.622e-8	
Chloracne	Hemoglobin m disease	3	3	HBA1 (4), HBA2 (3), HBB (5)	0.08824	1.00000	8.968e-9	7.622e-8	24
Chloracne	Unstable hemoglobin disease	3	3	HBA1 (3), HBA2 (3), HBB (5)	0.08824	1.00000	8.968e-9	7.622e-8	24
Exanthema	Stevens-johnson syndrome	4	4	HLA-B (3), VWF (2), C1QA (2), LBP (2)	0.04938	0.66667	9.068e-9	7.704e-8	
Collagen vi-related myopathy	Steroid-resistant nephrotic syndrome	3	3	COL4A5 (2), COL4A3 (2), COL4A4 (2)	0.17647	0.50000	9.389e-9	7.973e-8	
Anhydramnios	autosomal dominant polycystic kidney disease	3	3	DNAJB11 (2), PKD1 (2), PKD2 (2)	0.18750	0.42857	9.478e-9	8.046e-8	74
Sepsis	Trigeminal neuralgia	4	4	IL1B (2), TNF (2), MAPK1 (2), MAPK3 (2)	0.09302	0.33333	9.683e-9	8.217e-8	
Beta thalassemia	Polycythemia	4	4	HFE (2), EPO (3), GH1 (2), HBB (8)	0.10811	0.21053	9.777e-9	8.294e-8	
Craniosynostosis	Tooth agenesis	6	5	BMP2 (2), GLI3 (1), MSX2 (8), MSX1 (5), FGFR1 (3), AXIN2 (2)	0.06316	0.14634	9.878e-9	8.376e-8	
Cerebral hemorrhage	Coronary restenosis	4	4	ACE (2), MMP3 (2), SPP1 (2), HMOX1 (2)	0.10000	0.28571	1.002e-8	8.496e-8	
Gastric ulcer	Gastritis	5	1	KCNF1 (1), ZNF385B (1), IL1B (2), SORCS2 (1), CDH18 (1)	0.07042	0.22727	1.003e-8	8.498e-8	
Nasopharyngeal carcinoma	Penile neoplasms	3	1	TP53 (3), KRAS (1), PIK3CA (1)	0.12500	0.75000	1.012e-8	8.568e-8	
Atrial septal defect	Congenital heart defects	6	4	GATA4 (6), FOXP1 (1), TGFB2 (2), MYH6 (6), ISL1 (1), GATA6 (6)	0.06000	0.17143	1.038e-8	8.785e-8	41
Myelodysplastic syndrome	Myeloproliferative disorder	6	6	RUNX1 (2), TERT (2), TP53 (2), JAK2 (2), DNMT3A (2), DLK1 (2)	0.06383	0.13043	1.047e-8	8.861e-8	98
X-linked complex neurodevelopmental disorder	X-linked syndromic complex neurodevelopmental disorder	3	3	AP1S2 (2), TFE3 (2), ZFX (2)	0.08333	1.00000	1.076e-8	9.102e-8	129
Aplastic anemia	Essential thrombocythemia	4	4	MPL (2), THPO (3), TGFB1 (2), JAK2 (4)	0.09524	0.30769	1.084e-8	9.165e-8	
Diabetic ketoacidosis	Latent autoimmune diabetes in adults	4	1	INS (3), HLA-DQA1 (1), HLA-DQB1 (1), INS-IGF2 (1)	0.09091	0.33333	1.093e-8	9.238e-8	
Childhood absence epilepsy	Dravet syndrome	3	3	GABRG2 (2), GABRA1 (2), SCN1B (3)	0.18750	0.37500	1.103e-8	9.318e-8	
Fuchs endothelial dystrophy	Keratoconus	6	1	COL8A2 (3), RORA (1), PIDD1 (1), RPLP2 (1), HS3ST3B1 (1), PNPLA2 (1)	0.04651	0.26087	1.119e-8	9.450e-8	
Edema	Venous insufficiency	4	0	ABO (1), FTO (1), SLC19A2 (1), F5 (1)	0.07273	0.44444	1.127e-8	9.515e-8	
Membranous glomerulonephritis	Myasthenia gravis	5	4	HLA-DQA1 (2), HLA-DRB1 (2), CFB (2), HLA-B (2), C6orf15 (1)	0.07692	0.16129	1.129e-8	9.532e-8	1
Diabetic polyneuropathy	Osteomyelitis	3	1	TCF7L2 (1), HLA-DQB1 (2), FTO (1)	0.18750	0.33333	1.158e-8	9.769e-8	
Mainzer-saldino disease	Short-rib thoracic dysplasia	3	3	IFT140 (3), IFT172 (4), WDR19 (2)	0.12000	0.75000	1.163e-8	9.811e-8	
Mucositis	Neutropenia	4	4	IL1B (2), MTHFR (2), CSF2 (2), CSF3 (2)	0.06452	0.50000	1.168e-8	9.847e-8	
Complete unilateral cleft lip	Lacrimoauriculodentodigital syndrome	3	3	FGFR3 (5), FGF10 (5), FGFR2 (4)	0.08108	1.00000	1.174e-8	9.891e-8	
inherited retinal dystrophy	Stargardt disease	4	4	LRAT (2), CRB1 (2), SPATA7 (2), KCNV2 (2)	0.10000	0.26667	1.177e-8	9.919e-8	
Arteriosclerosis	Vasculitis	5	5	GATA2 (2), SERPINA1 (2), NOS3 (2), NFKBIA (2), SENP1 (2)	0.07576	0.17241	1.178e-8	9.921e-8	
Hemolytic uremic syndrome	Macular and posterior pole degeneration	4	4	CFI (6), C3 (6), CD46 (7), CFH (6)	0.09302	0.30769	1.233e-8	1.038e-7	32
Leukemia	Lymphoid leukemia	5	0	GRAMD1B (1), IRF4 (1), SP140 (1), MYNN (1), ACTRT3 (1)	0.07463	0.17857	1.252e-8	1.053e-7	89
Latent autoimmune diabetes in adults	Uveomeningoencephalitic syndrome	3	3	HLA-DQA1 (2), HLA-DQB1 (2), PTPN22 (2)	0.17647	0.42857	1.263e-8	1.062e-7	1
Eye neoplasms	Skin hair eye pigmentation variation	3	3	HERC2 (2), OCA2 (2), SLC24A5 (2)	0.17647	0.42857	1.263e-8	1.062e-7	302
Congenital aneurysm of ascending aorta	Megacystis microcolon intestinal hypoperistalsis syndrome	3	2	MYH11 (5), NDE1 (1), MYLK (6)	0.17647	0.42857	1.263e-8	1.062e-7	
Autoimmune musculoskeletal system disorder	Uveomeningoencephalitic syndrome	3	3	HLA-DQA1 (2), HLA-DRB1 (2), STAT4 (2)	0.17647	0.42857	1.263e-8	1.062e-7	1
Cutaneous lupus erythematosus	Interstitial cystitis	4	0	HLA-DQA1 (1), HLA-DRB1 (1), TRIM39 (1), TRIM39-RPP21 (1)	0.08333	0.36364	1.271e-8	1.068e-7	1
Cleft lip	Lacrimoauriculodentodigital syndrome	3	3	FGFR3 (6), FGF10 (6), FGFR2 (4)	0.07895	1.00000	1.277e-8	1.072e-7	
Bullous pemphigoid	Lymphoma	5	2	HLA-DQA1 (1), HLA-DRB1 (2), HLA-DQB1 (2), HLA-DOB (1), HLA-DQB2 (1)	0.06944	0.21739	1.278e-8	1.073e-7	1
Focal epilepsy	Progressive myoclonic epilepsy	3	3	DEPDC5 (3), NPRL2 (4), NPRL3 (4)	0.11538	0.75000	1.329e-8	1.115e-7	
Hereditary atrial fibrillation	Sick sinus syndrome	4	4	KCNJ5 (3), PITX2 (2), SCN5A (7), TTN (2)	0.10256	0.22222	1.369e-8	1.147e-7	3
Conduction disorder of the heart	Sick sinus syndrome	4	3	MYH6 (3), SCN5A (6), TTN (2), ANK2 (1)	0.10256	0.22222	1.369e-8	1.147e-7	3
Diabetic retinopathy	Periodontitis	13	3	KCNK1 (1), RBFOX1 (1), TCF7L2 (1), TENM2 (1), PPARG (1), IL6 (1), GSTM1 (1), FTO (1), MMP9 (2), ANGPT1 (2), CRP (2), CCND2 (1)	0.04194	0.08228	1.371e-8	1.149e-7	
Congenital heart defects	Hypoplastic left heart syndrome	5	2	TBX1 (2), FOXP1 (1), MYH6 (2), MYH7 (1), ETV2 (1)	0.05952	0.27778	1.374e-8	1.151e-7	41
Digestive system disease	Diverticulitis	6	0	ARHGAP15 (1), CCDC190 (1), COLQ (1), SLC35F3 (1), ABO (1), CALCB (1)	0.05172	0.21429	1.395e-8	1.168e-7	
Growth hormone deficiency	Hypogonadism	6	4	IL17RD (1), TACR3 (3), TAC3 (2), GNRH1 (2), KISS1R (1), GNRHR (2)	0.05714	0.17647	1.425e-8	1.193e-7	58
Frontotemporal dementia	Frontotemporal dementia with motor neuron disease	4	4	GRN (3), C9orf72 (4), FUS (2), TARDBP (3)	0.06154	0.50000	1.441e-8	1.206e-7	119
Berylliosis	Urticaria	4	1	HLA-DRB1 (1), TNF (1), TGFB1 (1), HLA-DPB1 (3)	0.07547	0.40000	1.445e-8	1.208e-7	
Blood coagulation disorder	Vascular disease	5	3	MTHFR (2), ABO (1), SLC19A2 (1), F5 (3), VKORC1 (2)	0.06944	0.20833	1.460e-8	1.221e-7	
Cystic kidney disease	Polycystic kidney disease	5	2	CC2D2A (1), PKD1 (8), CEP290 (1), MKS1 (1), ANKS6 (2)	0.07143	0.19231	1.488e-8	1.243e-7	
Penile disease	Urinary system disease	3	0	SLC9A9 (1), LRRC75A (1), ZNF287 (1)	0.15789	0.50000	1.493e-8	1.246e-7	117
46,xx ovotesticular disorder of sex development	46,xy gonadal dysgenesis	3	1	NR5A1 (2), SOX9 (1), SRY (1)	0.15789	0.50000	1.493e-8	1.246e-7	
Breast implant-associated anaplastic large cell lymphoma	Hereditary breast and ovarian cancer syndrome	3	2	TP53 (1), BRCA2 (4), BRCA1 (4)	0.15789	0.50000	1.493e-8	1.246e-7	
Cole-carpenter syndrome	Osteogenesis imperfecta	3	3	CRTAP (7), P4HB (6), SEC24D (6)	0.07500	1.00000	1.502e-8	1.253e-7	127
Bruck syndrome	Osteogenesis imperfecta	3	3	PLOD2 (6), FKBP10 (6), COL1A2 (7)	0.07500	1.00000	1.502e-8	1.253e-7	
Lamellar cataract	Posterior polar cataract	3	3	CRYAB (2), MIP (3), CRYBA1 (2)	0.17647	0.37500	1.516e-8	1.264e-7	51
Double outlet right ventricle	Transposition of the great arteries	3	1	CFC1 (1), CERS1 (1), GDF1 (2)	0.17647	0.37500	1.516e-8	1.264e-7	56
Cone dystrophy	Congenital stationary night blindness	4	3	CACNA1F (2), PDE6B (4), CABP4 (1), RHO (4)	0.08511	0.33333	1.539e-8	1.282e-7	
Dermatitis	Uveitis	5	4	HLA-DRB1 (2), TNF (1), HLA-B (3), HLA-A (2), IL13 (2)	0.07463	0.15152	1.572e-8	1.309e-7	46
Diabetic foot	Neuropathy	3	0	LNX1 (1), TRDN (1), UNC5D (1)	0.13636	0.60000	1.590e-8	1.324e-7	
Amelogenesis imperfecta	Junctional epidermolysis bullosa	4	4	COL7A1 (4), COL17A1 (7), LAMB3 (6), LAMC2 (6)	0.10000	0.22222	1.628e-8	1.355e-7	
Diabetes mellitus ketosis prone	Maturity-onset diabetes of the young	3	3	INS (2), PAX4 (3), HNF1A (2)	0.16667	0.42857	1.642e-8	1.366e-7	
Kawasaki disease	Sjogren syndrome	7	4	TNF (1), HLA-DQB1 (2), FCGR2A (3), LTA (2), BLK (3), CCR5 (1), TSBP1 (1)	0.05426	0.10938	1.650e-8	1.373e-7	22
Hypertrophy	Urethral obstruction	5	0	AGT (1), COL3A1 (1), FN1 (1), NPPA (1), EDN1 (1)	0.07042	0.19231	1.655e-8	1.376e-7	
Sepsis	Stevens-johnson syndrome	6	5	CSF3 (2), IFNA2 (1), IFNG (2), NOS2 (2), MIF (2), LBP (2)	0.05607	0.17647	1.669e-8	1.387e-7	
Brain injuries	Pancreatitis	7	7	MPO (2), PARP1 (2), PTGS2 (2), ALB (2), CCL2 (2), IL1RN (2), PPP3CA (2)	0.05344	0.12281	1.678e-8	1.394e-7	
Cerebroretinal microangiopathy with calcifications and cysts	Dyskeratosis congenita	3	2	POT1 (4), PFAS (1), CTC1 (6)	0.10714	0.75000	1.708e-8	1.417e-7	
Cleft eyelid	Congenital ocular coloboma	3	0	PAX6 (1), FZD5 (1), SALL2 (1)	0.10714	0.75000	1.708e-8	1.417e-7	25
Blindness	Rod-cone dystrophy	4	1	USH2A (1), RPE65 (2), CEP290 (1), RHO (1)	0.09091	0.28571	1.723e-8	1.430e-7	
Retinal detachment	Stargardt disease	5	3	ABCA4 (4), COL2A1 (3), CRB1 (2), EYS (1), RHO (1)	0.07143	0.17857	1.776e-8	1.473e-7	
Dermatomyositis	Systemic scleroderma	4	1	HLA-DRB5 (1), HLA-DPB1 (1), STAT4 (2), HLA-DPA1 (1)	0.09302	0.26667	1.806e-8	1.498e-7	22
Mitochondrial dna depletion syndrome	Mitochondrial encephalomyopathy	4	4	POLG (5), SCO2 (2), TYMP (4), FBXL4 (6)	0.09524	0.25000	1.818e-8	1.506e-7	
Cyclin-dependent kinase-like 5 deficiency	Rett syndrome	3	2	CDKL5 (4), MECP2 (7), RS1 (1)	0.15000	0.50000	1.838e-8	1.522e-7	55
Congenital total cataract	Sutural cataract	3	3	CRYBB2 (3), GJA8 (2), MIP (3)	0.15000	0.50000	1.838e-8	1.522e-7	51
Brachydactyly	Syndactyly	4	2	IHH (6), TULP1 (1), HOXD13 (7), IQCE (1)	0.10000	0.19048	1.840e-8	1.524e-7	
Fetal akinesia deformation sequence	Myasthenic syndrome	4	4	RAPSN (6), MUSK (6), SLC18A3 (4), DOK7 (5)	0.08163	0.33333	1.903e-8	1.575e-7	5
Amnesia	Bradycardia	4	4	TRH (2), PDYN (2), POMC (2), TAC1 (2)	0.09756	0.22222	1.923e-8	1.591e-7	66
Dravet syndrome	Lennox-gastaut syndrome	3	3	GABRG2 (3), SCN1A (5), SCN2A (2)	0.16667	0.37500	2.021e-8	1.671e-7	228
Bouillaud’s disease	Nasopharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.06818	1.00000	2.029e-8	1.677e-7	1
Partial epilepsy	West syndrome	5	1	SCN8A (1), CDKL5 (1), SCN1A (2), SCN2A (1), SPTAN1 (1)	0.07143	0.16667	2.036e-8	1.683e-7	
Iron overload	Neurodegeneration with brain iron accumulation	3	2	CP (3), BEST1 (1), FTH1 (6)	0.15789	0.42857	2.090e-8	1.724e-7	
Central nervous system non-hodgkin lymphoma	Rosacea	3	0	HLA-DQA1 (1), HLA-DRB1 (1), IRF4 (1)	0.15789	0.42857	2.090e-8	1.724e-7	1
Extravasation of diagnostic and therapeutic materials	Hyperemia	3	3	TAC1 (2), KNG1 (2), BDKRB2 (2)	0.15789	0.42857	2.090e-8	1.724e-7	
Distal muscular dystrophy	Distal myopathy	3	3	MATR3 (2), MYH7 (2), TTN (2)	0.15789	0.42857	2.090e-8	1.724e-7	
Angina pectoris	Arteriosclerosis	4	2	TLR4 (2), MMP1 (1), MMP9 (2), ITGA2 (1)	0.08000	0.33333	2.108e-8	1.739e-7	
Idiopathic steroid-resistant nephrotic syndrome	Nephrotic syndrome, idiopathic, steroid-resistant	3	2	NPHS2 (2), NUP93 (1), NUP205 (2)	0.10000	0.75000	2.151e-8	1.774e-7	
Cardioembolic stroke	Long qt syndrome	9	8	RBM20 (2), TBX5 (3), KCNJ5 (8), KLF12 (1), SYNE2 (2), NKX2-5 (2), KCNH2 (8), TTN (2), HCN4 (2)	0.04615	0.08911	2.165e-8	1.784e-7	
Dystonia	Early-onset generalized limb-onset dystonia	3	3	EIF2AK2 (6), TOR1A (6), SHQ1 (4)	0.06667	1.00000	2.177e-8	1.793e-7	172
Eosinophilia	Rhinitis	8	3	CCL26 (1), EMSY (1), HLA-DQA1 (2), TLR4 (2), SMAD3 (1), CLEC16A (1), TLR2 (2), WDR36 (1)	0.04706	0.12308	2.176e-8	1.793e-7	
Beta thalassemia	Hemoglobin e disease	3	3	BCL11A (2), HBS1L (2), HBB (8)	0.12500	0.60000	2.182e-8	1.797e-7	
Partington syndrome	X-linked complex neurodevelopmental disorder	4	4	ARX (8), AP1S2 (3), KDM5C (2), PAK3 (2)	0.08696	0.28571	2.203e-8	1.813e-7	
Cholangiocarcinoma	Giant cell glioblastoma	4	3	TP53 (2), EGFR (2), IDH1 (2), ROS1 (1)	0.08333	0.30769	2.219e-8	1.824e-7	
Developmental delay	Neuropathy, ataxia, and retinitis pigmentosa	4	0	ND2 (1), COX3 (1), ND5 (1), ND4 (1)	0.08333	0.30769	2.219e-8	1.824e-7	26
Astigmatism	Hyperopia	4	1	ANKRD11 (2), SLC9A6 (1), MCM7 (1), SCLT1 (1)	0.04819	0.57143	2.220e-8	1.825e-7	
Allergic contact dermatitis	Autoimmune hepatitis	6	6	IL10 (2), IL2 (2), IL4 (2), IFNG (2), IL18 (2), IL5 (2)	0.05660	0.15789	2.255e-8	1.853e-7	46
Cardiac conduction disease	Short qt syndrome	3	0	CACNB2 (1), TRPM4 (1), SCN5A (1)	0.16667	0.33333	2.273e-8	1.866e-7	
Hyperinsulinemic hypoglycemia	Transient neonatal diabetes mellitus	3	3	ABCC8 (6), KCNJ11 (6), GCK (4)	0.16667	0.33333	2.273e-8	1.866e-7	35
Differentiated thyroid carcinoma	Neuroblastoma	8	6	TERT (3), NTRK1 (2), KRAS (2), NRAS (2), ALK (2), SLK (1), STN1 (1), HRAS (2)	0.04145	0.16327	2.278e-8	1.870e-7	
Atrioventricular septal defect	Ventricular septal defect	4	3	GATA4 (5), TBX5 (1), GATA6 (6), CRELD1 (6)	0.07843	0.33333	2.329e-8	1.911e-7	
Hemolytic uremic syndrome	Mitochondrial myopathy	4	4	IL1A (2), IL1B (2), TNF (2), IL6 (2)	0.08889	0.26667	2.346e-8	1.924e-7	
Gastrointestinal stromal tumor	Holoprosencephaly	5	5	CDON (6), GLI2 (6), PTCH1 (7), BOC (2), DISP1 (5)	0.06944	0.17241	2.393e-8	1.962e-7	110
Gm2 gangliosidosis	Tay-sachs disease	2	2	HEXA (7), GM2A (6)	0.50000	1.00000	2.531e-8	2.035e-7	
Hearing loss with stapes fixation	Senter syndrome	2	2	GJB6 (2), GJB2 (2)	0.50000	1.00000	2.531e-8	2.035e-7	68
Hemoglobin barts fetalis syndrome	methemoglobinemia, alpha type	2	2	HBA1 (3), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
Hemoglobin h disease	methemoglobinemia, alpha type	2	2	HBA1 (6), HBA2 (6)	0.50000	1.00000	2.531e-8	2.035e-7	24
Hemoglobin m disease	methemoglobinemia, alpha type	2	2	HBA1 (4), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
Mandibuloacral dysostosis	Restrictive dermopathy	2	2	LMNA (5), ZMPSTE24 (4)	0.50000	1.00000	2.531e-8	2.035e-7	83
Hyperkalemic periodic paralysis	Paramyotonia congenita	2	1	SCN4A (5), RANBP2 (1)	0.50000	1.00000	2.531e-8	2.035e-7	170
Dyssegmental dysplasia	Schwartz-jampel syndrome	2	1	HSPG2 (7), LDLRAD2 (1)	0.50000	1.00000	2.531e-8	2.035e-7	146
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Seborrhea-like dermatitis with psoriasiform elements	2	2	TBCD (5), ZNF750 (5)	0.50000	1.00000	2.531e-8	2.035e-7	222
ehlers-danlos syndrome, classic type	Neuropathic spinal arthropathy	2	2	COL5A1 (2), COL5A2 (2)	0.50000	1.00000	2.531e-8	2.035e-7	
erythrocytosis, familial, 7	Hemoglobin barts fetalis syndrome	2	2	HBA1 (3), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
erythrocytosis, familial, 7	Hemoglobin h disease	2	2	HBA1 (6), HBA2 (6)	0.50000	1.00000	2.531e-8	2.035e-7	24
erythrocytosis, familial, 7	Hemoglobin m disease	2	2	HBA1 (4), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
methemoglobinemia, alpha type	Unstable hemoglobin disease	2	2	HBA1 (3), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
erythrocytosis, familial, 7	Unstable hemoglobin disease	2	2	HBA1 (3), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
Keratitis-ichthyosis-deafness syndrome	Senter syndrome	2	1	GJB6 (1), GJB2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	68
Senter syndrome	X-linked hearing loss with perilymphatic gusher	2	2	GJB6 (2), GJB2 (2)	0.50000	1.00000	2.531e-8	2.035e-7	68
Spinocerebellar ataxia, x-linked	X-linked progressive cerebellar ataxia	2	2	ATP2B3 (5), GJB1 (3)	0.50000	1.00000	2.531e-8	2.035e-7	422
Apoceruloplasmin deficiency	Ferroxidase deficiency	2	2	CP (3), SLC40A1 (2)	0.50000	1.00000	2.531e-8	2.035e-7	188
Atypical hemolytic uremic syndrome	atypical hemolytic-uremic syndrome	2	2	CD46 (2), CFH (2)	0.50000	1.00000	2.531e-8	2.035e-7	32
Caudal regression syndrome	Sacral defect	2	2	PCSK5 (2), VANGL1 (5)	0.50000	1.00000	2.531e-8	2.035e-7	109
Cerebral creatine deficiency syndrome	Creatine deficiency	2	2	GAMT (3), SLC6A8 (4)	0.50000	1.00000	2.531e-8	2.035e-7	380
Chondrocalcinosis	Craniometadiaphyseal dysplasia	2	1	ANKH (5), OTULIN (1)	0.50000	1.00000	2.531e-8	2.035e-7	208
Congenital leukocyte adherence deficiency	Leukocyte adhesion deficiency	2	2	FERMT3 (7), ITGB2 (6)	0.50000	1.00000	2.531e-8	2.035e-7	142
Congenital scoliosis	Geleophysic dysplasia	2	2	FBN1 (5), LTBP3 (6)	0.50000	1.00000	2.531e-8	2.035e-7	28
Craniofacial dysostosis	Crouzon syndrome	2	2	FGFR2 (7), ERF (2)	0.50000	1.00000	2.531e-8	2.035e-7	
Craniofaciosynostosis	Trigonocephaly	2	2	FGFR1 (3), FREM1 (4)	0.50000	1.00000	2.531e-8	2.035e-7	139
Craniometadiaphyseal dysplasia	Craniometaphyseal dysplasia	2	1	ANKH (6), OTULIN (1)	0.50000	1.00000	2.531e-8	2.035e-7	208
Craniometaphyseal dysplasia	Schwartz-lelek syndrome	2	2	ANKH (6), GJA1 (6)	0.50000	1.00000	2.531e-8	2.035e-7	208
Curry-hall syndrome	Weyers acrofacial dysostosis	2	2	EVC (4), EVC2 (4)	0.50000	1.00000	2.531e-8	2.035e-7	233
Combined cellular and humoral immune defects with granulomas	Combined immunodeficiency with granulomatosis	2	2	RAG1 (4), RAG2 (4)	0.50000	1.00000	2.531e-8	2.035e-7	176
Combined immunodeficiency with facio-oculo-skeletal anomalies	Roifman syndrome	2	2	PIK3CD (5), KNSTRN (5)	0.50000	1.00000	2.531e-8	2.035e-7	375
Combined immunodeficiency with granulomatosis	Combined immunodeficiency with skin granulomas	2	2	RAG1 (3), RAG2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	176
Combined immunodeficiency-multiple intestinal atresia	Combined immunodeficiency, enteropathy spectrum	2	2	PI4KA (2), TTC7A (2)	0.50000	1.00000	2.531e-8	2.035e-7	269
Combined immunodeficiency-multiple intestinal atresia	Gastrointestinal defects and immunodeficiency syndrome	2	2	PI4KA (4), TTC7A (5)	0.50000	1.00000	2.531e-8	2.035e-7	269
Combined immunodeficiency, x-linked	X-linked combined immunodeficiency diseases	2	2	IL2RG (4), SASH3 (3)	0.50000	1.00000	2.531e-8	2.035e-7	
Alopecia-intellectual disability syndrome	Perniola krajewska carnevale syndrome	2	2	AHSG (2), LSS (2)	0.50000	1.00000	2.531e-8	2.035e-7	386
Alpha thalassemia	methemoglobinemia, alpha type	2	2	HBA1 (3), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
Alpha thalassemia	erythrocytosis, familial, 7	2	2	HBA1 (3), HBA2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	24
Anastomosing haemangioma	Congenital hemangioma	2	2	GNA11 (2), GNAQ (2)	0.50000	1.00000	2.531e-8	2.035e-7	65
Benign hypercalcemia	Hypocalciuric hypercalcemia	2	2	AP2S1 (6), CASR (7)	0.50000	1.00000	2.531e-8	2.035e-7	210
Beta-hydroxyisobutyryl-coa deacylase deficiency	Cowchock syndrome	2	1	AIFM1 (2), RAB33A (1)	0.50000	1.00000	2.531e-8	2.035e-7	367
Blue cone monochromatism	Cone monochromatism	2	2	OPN1LW (6), OPN1MW (6)	0.50000	1.00000	2.531e-8	2.035e-7	217
Blue cone monochromatism	X-linked cone dysfunction syndrome with myopia	2	2	OPN1LW (4), OPN1MW (4)	0.50000	1.00000	2.531e-8	2.035e-7	217
Bone osteosarcoma	Osteogenic sarcoma	2	2	CHEK2 (2), RB1 (2)	0.50000	1.00000	2.531e-8	2.035e-7	
Bor syndrome	Branchiootic syndrome	2	2	EYA1 (6), SIX1 (6)	0.50000	1.00000	2.531e-8	2.035e-7	134
Brown-vialetto-van laere syndrome	Riboflavin transporter deficiency	2	2	SLC52A3 (7), SLC52A2 (6)	0.50000	1.00000	2.531e-8	2.035e-7	
Capillary malformation	Congenital hemangioma	2	2	GNA11 (2), GNAQ (2)	0.50000	1.00000	2.531e-8	2.035e-7	65
Cystinosis	Nephropathic cystinosis	2	1	CTNS (8), TAX1BP3 (1)	0.50000	1.00000	2.531e-8	2.035e-7	
Deafness with congenital onychodystrophy	Digitrenocerebral syndrome	2	1	TBC1D24 (1), ATP6V1B2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	105
Deafness, aminoglycoside-induced	Deafness, sensorineural, autosomal-mitochondrial type	2	1	ND1 (1), COX1 (2)	0.50000	1.00000	2.531e-8	2.035e-7	244
Deafness, nonsyndromic sensorineural, mitochondrial	Deafness, sensorineural, autosomal-mitochondrial type	2	1	ND1 (1), COX1 (2)	0.50000	1.00000	2.531e-8	2.035e-7	244
Digitrenocerebral syndrome	Doors syndrome	2	2	TBC1D24 (4), ATP6V1B2 (3)	0.50000	1.00000	2.531e-8	2.035e-7	105
Osteosarcoma	Ovarian neoplasms	8	2	TP53 (2), EGFR (1), MECOM (2), MET (1), MYC (1), HDAC6 (1), FOLR1 (1), EZH2 (1)	0.04420	0.14035	2.577e-8	2.071e-7	4
Cyclocephaly	Septopreoptic holoprosencephaly	3	3	FGF8 (2), GAS1 (2), ZIC2 (2)	0.15000	0.42857	2.612e-8	2.097e-7	
Cyclocephaly	Syntelencephaly	3	3	FGF8 (2), GAS1 (2), ZIC2 (2)	0.15000	0.42857	2.612e-8	2.097e-7	
Arrhythmogenic right ventricular dysplasia	Distal muscular dystrophy	3	0	LDB3 (1), MYH7 (1), TTN (1)	0.15000	0.42857	2.612e-8	2.097e-7	
C3 glomerulonephritis	Macular and posterior pole degeneration	3	3	CFI (3), C3 (3), CFH (4)	0.15789	0.37500	2.626e-8	2.108e-7	32
Rolandic epilepsy	Unverricht-lundborg syndrome	3	3	SCARB2 (2), PRICKLE1 (2), CSTB (5)	0.06250	1.00000	2.665e-8	2.138e-7	
Anhedonia	Cognition disorder	5	5	COMT (2), CRH (2), DRD2 (2), SLC6A4 (2), CACNA1C (2)	0.06579	0.19231	2.729e-8	2.189e-7	
Autoinflammatory syndrome	Lymphoproliferative syndrome	4	4	XIAP (3), ITK (5), CD27 (4), SH2D1A (3)	0.08333	0.28571	2.776e-8	2.225e-7	
Malnutrition	Neural tube defect	3	3	MTHFR (2), CBS (2), MTR (2)	0.06122	1.00000	2.843e-8	2.278e-7	
Congenital clubfoot	Congenital hemivertebra	3	0	BLTP1 (1), PKD1 (1), INPP5E (1)	0.11538	0.60000	2.905e-8	2.328e-7	
Sleep apnea	Sleep disorder	4	0	BTBD9 (1), SLC39A8 (1), MEIS1 (1), BFSP1 (1)	0.07018	0.36364	2.938e-8	2.352e-7	125
autosomal recessive primary microcephaly	Congenital microcephaly	3	3	ASPM (2), CDK5RAP2 (2), STIL (2)	0.09091	0.75000	2.951e-8	2.363e-7	
Bone fragility with contractures, arterial rupture, and deafness	Cole-carpenter syndrome	3	3	CRTAP (3), P4HB (6), SEC24D (6)	0.06000	1.00000	3.028e-8	2.423e-7	127
Cole-carpenter syndrome	Osteoporosis-pseudoglioma syndrome	3	3	CRTAP (3), P4HB (6), SEC24D (6)	0.06000	1.00000	3.028e-8	2.423e-7	127
Disseminated intravascular coagulation	Thromboembolism	3	3	F2 (2), PROC (2), F7 (2)	0.15789	0.33333	3.030e-8	2.423e-7	36
Cleft palate	Uranostaphyloschisis	5	2	MEIS2 (1), TBX22 (1), IRF6 (2), SATB2 (2), ARHGAP29 (1)	0.06250	0.20833	3.043e-8	2.432e-7	
Cleft palate and bilateral cleft lip	Developmental delay	4	0	ND2 (1), COX3 (1), ND5 (1), ND4 (1)	0.08163	0.28571	3.100e-8	2.477e-7	26
Nonsyndromic intellectual disability	syndromic intellectual disability	7	7	CRADD (4), NSUN2 (4), KIF1A (3), PPM1D (2), TAOK1 (3), MED23 (4), NAA20 (3)	0.04094	0.19444	3.108e-8	2.483e-7	
Congenital brain malformation	Pontocerebellar hypoplasia	4	4	SEPSECS (5), CHMP1A (5), AMPD2 (6), TOE1 (5)	0.08889	0.23529	3.141e-8	2.506e-7	
Congenital hypoplasia of part of brain	Pontocerebellar hypoplasia	4	4	SEPSECS (5), CHMP1A (5), AMPD2 (6), TOE1 (5)	0.08889	0.23529	3.141e-8	2.506e-7	
Microgyria	Pontocerebellar hypoplasia	4	4	SEPSECS (5), CHMP1A (5), AMPD2 (6), TOE1 (5)	0.08889	0.23529	3.141e-8	2.506e-7	
Clear cell renal cell carcinoma	Myeloproliferative disorder	6	1	TERT (2), MAD1L1 (1), STN1 (1), PMF1 (1), PMF1-BGLAP (1), MYNN (1)	0.05825	0.11321	3.165e-8	2.524e-7	
Congenital insensitivity to pain	Hereditary sensory and autonomic neuropathy	3	3	SCN11A (6), SCN9A (5), PRDM12 (5)	0.13043	0.50000	3.178e-8	2.533e-7	
Hyperparathyroidism	Rickets	3	3	VDR (2), PTH (2), PTH1R (2)	0.13043	0.50000	3.178e-8	2.533e-7	
Hyperinsulinemic hypoglycemia	monogenic diabetes	3	3	ABCC8 (4), KCNJ11 (5), GCK (4)	0.15789	0.30000	3.246e-8	2.585e-7	35
Degenerative disorder	Learning disorders	5	5	APP (2), PSEN1 (2), MAPT (2), HMOX1 (2), APOD (2)	0.06944	0.13889	3.245e-8	2.585e-7	
Hemorrhage	Venous thrombosis	4	0	PLAU (1), F2 (1), PLAT (1), F7 (1)	0.09302	0.18182	3.258e-8	2.594e-7	36
Autosomal recessive ataxia	Peroxisome biogenesis disorder	3	3	PEX10 (8), PEX16 (8), PEX2 (7)	0.11111	0.60000	3.320e-8	2.642e-7	
Diabetic cardiomyopathy	Rhabdomyolysis	3	3	INS (2), ATP2A2 (3), RYR2 (3)	0.15000	0.37500	3.342e-8	2.659e-7	
Bouillaud’s disease	Narcolepsy	3	3	HLA-DQA1 (2), HLA-DRB1 (4), HLA-DQB1 (4)	0.05769	1.00000	3.423e-8	2.722e-7	1
Nystagmus	Strabismus	5	0	KIF7 (1), BFSP2 (1), GALC (1), GNB1 (1), TYR (1)	0.06849	0.14706	3.500e-8	2.783e-7	
Carcinogenesis	Lymphatic metastasis	4	0	BRAF (1), MET (1), ERBB2 (1), CDKN2A (1)	0.08889	0.22222	3.514e-8	2.793e-7	
Chloracne	Delta-beta thalassemia	3	3	HBB (4), HBD (3), HBG1 (3)	0.08571	0.75000	3.582e-8	2.846e-7	
Aplastic anemia	Asbestosis	4	2	GSTT1 (2), TNF (2), EPHX1 (1), GSTM1 (1)	0.08696	0.23529	3.587e-8	2.848e-7	
Pulmonary hypertension	Sleep apnea	6	6	ACE (2), NOS3 (2), TNF (2), SLC6A4 (2), EDN1 (2), LEPR (2)	0.05714	0.12245	3.680e-8	2.921e-7	
Multinodular goiter	Thyroid disease	5	0	NFIA (1), INSR (1), TG (1), FAM227B (1), MICOS10 (1)	0.06494	0.17857	3.685e-8	2.925e-7	
Learning disorders	Neurodegenerative disorder	5	5	APP (2), PSEN1 (2), MAPT (2), HMOX1 (2), APOD (2)	0.06849	0.13889	3.689e-8	2.927e-7	
Cervical disc degenerative disorder	Oral submucous fibrosis	3	3	TNF (2), TGFB1 (2), COL1A1 (2)	0.12500	0.50000	3.739e-8	2.965e-7	
Gallbladder neoplasms	Nasopharyngeal carcinoma	4	1	TP53 (3), ERBB3 (1), KRAS (1), ERBB2 (1)	0.09091	0.18182	3.875e-8	3.072e-7	
Congenital neutropenia	Shwachman-diamond syndrome	3	2	SRP19 (1), SRP54 (5), SRPRA (2)	0.13636	0.42857	3.902e-8	3.092e-7	
Genetic steroid-resistant nephrotic syndrome	Nephrotic syndrome, idiopathic, steroid-resistant	3	3	NPHS2 (2), NUP93 (2), NUP205 (2)	0.08333	0.75000	3.929e-8	3.112e-7	
Erythrocytosis	Polycythemia vera	3	3	HBA1 (6), HBB (5), JAK2 (5)	0.15000	0.33333	3.937e-8	3.117e-7	24
Congenital arteriovenous malformation	Costello syndrome	3	2	MAP2K1 (3), HRAS (6), LRRC56 (1)	0.15000	0.33333	3.937e-8	3.117e-7	
Female infertility	Hypogonadism	8	8	CYP17A1 (2), CYP19A1 (3), LEP (2), FSHB (2), PRL (2), AR (2), LEPR (2), LHB (2)	0.04651	0.10526	3.942e-8	3.120e-7	
Brachycephaly	Craniosynostosis	4	3	FGFR3 (1), TCF12 (3), TWIST1 (3), ZIC1 (6)	0.06061	0.40000	4.013e-8	3.174e-7	
Congenital microcephaly	Seckel syndrome	4	2	CDK5RAP2 (1), CEP152 (6), CPAP (6), RNF17 (1)	0.08696	0.22222	4.032e-8	3.188e-7	137
Haddad syndrome	Hirschsprung disease	4	4	RET (5), GDNF (4), EDN3 (5), PHOX2B (4)	0.05479	0.44444	4.058e-8	3.206e-7	331
Congenital central hypoventilation syndrome	Hirschsprung disease	4	4	RET (5), GDNF (4), EDN3 (5), PHOX2B (4)	0.05479	0.44444	4.058e-8	3.206e-7	331
Congenital hypoplasia of kidney	Renal agenesis	3	1	RET (2), EYA1 (1), WNT9B (1)	0.14286	0.37500	4.176e-8	3.299e-7	161
Chronic obstructive pulmonary disease	Emphysema	5	1	TP53 (1), SERPINA1 (2), NOS2 (1), TNFRSF8 (1), HDAC2 (1)	0.06757	0.13889	4.181e-8	3.301e-7	133
Cholangiocarcinoma	Hereditary breast and ovarian cancer syndrome	4	4	PTEN (2), TP53 (2), BRCA2 (4), BRCA1 (4)	0.08000	0.26667	4.220e-8	3.331e-7	
Sarcoma	Thyroid neoplasms	5	1	HNF1B (1), TP53 (2), TNF (1), CSF2 (1), IL6 (1)	0.06667	0.15152	4.241e-8	3.346e-7	4
Coach syndrome	Cystic kidney disease	3	3	CC2D2A (3), RPGRIP1L (3), TMEM67 (5)	0.10345	0.60000	4.264e-8	3.363e-7	
Hemolytic anemia	Rh deficiency syndrome	3	3	RHAG (3), RHCE (4), RHD (4)	0.05357	1.00000	4.312e-8	3.400e-7	
Cardiofaciocutaneous syndrome	Myelomonocytic leukemia	3	3	KRAS (8), NRAS (3), PTPN11 (6)	0.15000	0.30000	4.326e-8	3.405e-7	49
Papilloma	Tongue neoplasms	3	0	SOD2 (1), PTGS2 (1), HRAS (1)	0.15000	0.30000	4.326e-8	3.405e-7	270
Angina pectoris	Brain edema	3	1	PLAU (2), TNF (1), MMP9 (1)	0.15000	0.30000	4.326e-8	3.405e-7	
Cachexia	Delirium	3	3	IGF1 (2), IL6 (2), CXCL8 (2)	0.15000	0.30000	4.326e-8	3.405e-7	
Cachexia	Esotropia	3	2	TNF (2), PTGS2 (2), CXCL8 (1)	0.15000	0.30000	4.326e-8	3.405e-7	43
Asbestosis	Sepsis	4	4	IL1B (2), TNF (2), NLRP3 (2), NOS2 (2)	0.08333	0.23529	4.619e-8	3.634e-7	
Anorexia	Nausea	3	2	TNF (2), IFNA2 (1), TNFRSF10A (2)	0.13043	0.42857	4.681e-8	3.678e-7	
Chorea	Pemphigus vulgaris	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.13043	0.42857	4.681e-8	3.678e-7	1
Congenital heart septal defect	Congenital septal defect of heart	3	3	PCSK5 (2), NKX2-5 (2), CITED2 (2)	0.13043	0.42857	4.681e-8	3.678e-7	
Cyclocephaly	Semilobar holoprosencephaly	3	3	FGF8 (2), GAS1 (2), ZIC2 (2)	0.13043	0.42857	4.681e-8	3.678e-7	
Auditory neuropathy	Hereditary hearing loss	5	5	OTOF (2), DIAPH1 (2), MYO7A (2), WFS1 (2), SLC17A8 (2)	0.06494	0.16129	4.687e-8	3.681e-7	
Bone osteosarcoma	Osteosarcoma	3	3	CHEK2 (3), TP53 (3), RB1 (3)	0.05172	1.00000	4.810e-8	3.776e-7	
Atherosclerosis	Lewy body disease	9	8	APOC1 (1), APOE (3), CLU (2), IGF2 (2), AGER (2), SOD2 (2), NOS2 (2), EDN1 (2), HRH1 (3)	0.04369	0.09474	4.878e-8	3.828e-7	
Iridogoniodysgenesis	Rieger syndrome	2	2	FOXC1 (2), PITX2 (3)	0.40000	1.00000	5.062e-8	3.915e-7	82
Mainzer-saldino disease	Saldino-mainzer syndrome	2	2	IFT140 (3), IFT172 (2)	0.40000	1.00000	5.062e-8	3.915e-7	
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Yorifuji okuno syndrome	2	2	GATA4 (2), GATA6 (3)	0.40000	1.00000	5.062e-8	3.915e-7	106
Dysphasia	Postictal aphasia	2	0	PLAT (1), L1CAM (1)	0.40000	1.00000	5.062e-8	3.915e-7	29
Dysphasia	Syntactic aphasia	2	0	PLAT (1), L1CAM (1)	0.40000	1.00000	5.062e-8	3.915e-7	29
Hyper-immunoglobulin d syndrome	Mevalonate kinase deficiency	2	1	MVK (4), HMGCR (1)	0.40000	1.00000	5.062e-8	3.915e-7	327
Hyper-immunoglobulin m syndrome	Hyper-immunoglobulin syndrome	2	0	AICDA (1), CD40 (1)	0.40000	1.00000	5.062e-8	3.915e-7	266
Glanzmann thrombasthenia	Thrombasthenia	2	2	ITGB3 (8), ITGA2B (8)	0.40000	1.00000	5.062e-8	3.915e-7	67
Gorlin syndrome	nevoid basal cell carcinoma syndrome	2	2	PTCH1 (3), PTCH2 (2)	0.40000	1.00000	5.062e-8	3.915e-7	25
platelet-type bleeding disorder 16	Thrombasthenia	2	2	ITGB3 (3), ITGA2B (3)	0.40000	1.00000	5.062e-8	3.915e-7	67
Porphyruria	Variegate porphyria	2	1	HFE (1), PPOX (6)	0.40000	1.00000	5.062e-8	3.915e-7	251
Mandibuloacral dysplasia	Restrictive dermopathy	2	2	LMNA (6), ZMPSTE24 (7)	0.40000	1.00000	5.062e-8	3.915e-7	83
Multifocal osteomyelitis	Recurrent multifocal osteomyelitis	2	2	IL1R1 (4), IL1RN (3)	0.40000	1.00000	5.062e-8	3.915e-7	219
Arginine vasopressin resistance	Neurogenic diabetes insipidus	2	2	AQP2 (6), AVPR2 (5)	0.40000	1.00000	5.062e-8	3.915e-7	
Arginine vasopressin resistance	Nephrogenic diabetes insipidus	2	2	AQP2 (3), AVPR2 (3)	0.40000	1.00000	5.062e-8	3.915e-7	
Arteriovenous hemangioma	Blue rubber bleb nevus syndrome	2	1	GLMN (1), TEK (2)	0.40000	1.00000	5.062e-8	3.915e-7	257
Asymmetric septal hypertrophy	Scapuloperoneal myopathy	2	1	MYH7 (1), FHL1 (3)	0.40000	1.00000	5.062e-8	3.915e-7	104
Axenfeld anomaly	Rieger syndrome	2	2	FOXC1 (2), PITX2 (2)	0.40000	1.00000	5.062e-8	3.915e-7	82
Congenital malformation of cerebral vessels	Developmental venous anomaly	2	0	PDCD10 (1), CCM2 (1)	0.40000	1.00000	5.062e-8	3.915e-7	249
Congenital secretory diarrhea	Congenital sodium diarrhea	2	2	SLC9A3 (4), GUCY2C (2)	0.40000	1.00000	5.062e-8	3.915e-7	275
Benign neonatal epilepsy	Benign neonatal-infantile seizures	2	2	KCNQ2 (3), SCN2A (3)	0.40000	1.00000	5.062e-8	3.915e-7	213
Bestrophinopathy	Vitreoretinochoroidopathy	2	1	BEST1 (7), FTH1 (1)	0.40000	1.00000	5.062e-8	3.915e-7	415
Deafness enamel hypoplasia nail defects	Heimler syndrome	2	2	PEX6 (5), PEX1 (4)	0.40000	1.00000	5.062e-8	3.915e-7	141
Deafness-enamel hypoplasia-nail defects syndrome	Heimler syndrome	2	2	PEX6 (4), PEX1 (4)	0.40000	1.00000	5.062e-8	3.915e-7	141
Dejerine-lichtheim phenomenon	Dysphasia	2	0	PLAT (1), L1CAM (1)	0.40000	1.00000	5.062e-8	3.915e-7	29
Delta-beta thalassemia	Lepore-beta-thalassemia syndrome	2	2	HBB (3), HBD (3)	0.40000	1.00000	5.062e-8	3.915e-7	18
Cataract-intellectual disability-hypogonadism syndrome	Congenital malformation syndromes predominantly affecting facial appearance	2	2	RAB3GAP1 (3), RAB3GAP2 (3)	0.40000	1.00000	5.062e-8	3.915e-7	90
Cataract-intellectual disability-hypogonadism syndrome	Warburg micro syndrome	2	2	RAB3GAP1 (7), RAB3GAP2 (7)	0.40000	1.00000	5.062e-8	3.915e-7	90
Cerebroretinal microangiopathy with calcifications and cysts	Coats plus syndrome	2	2	STN1 (7), CTC1 (6)	0.40000	1.00000	5.062e-8	3.915e-7	138
Childhood-onset glut1 deficiency syndrome 2	Paroxysmal dystonic choreoathetosis	2	2	SLC2A1 (3), PRRT2 (2)	0.40000	1.00000	5.062e-8	3.915e-7	85
Combined molybdoflavoprotein enzyme deficiency	Glycoprotein ia deficiency	2	0	ITGA2 (1), MOCS2 (1)	0.40000	1.00000	5.062e-8	3.915e-7	
Commisural aphasia	Dysphasia	2	0	PLAT (1), L1CAM (1)	0.40000	1.00000	5.062e-8	3.915e-7	29
Congenital aniridia	Wagr syndrome	2	2	WT1 (4), PAX6 (4)	0.40000	1.00000	5.062e-8	3.915e-7	86
Congenital bilateral absence of vas deferens	Obstructive azoospermia	2	2	CFTR (5), ADGRG2 (4)	0.40000	1.00000	5.062e-8	3.915e-7	
Congenital cerebral aneurysm	Developmental venous anomaly	2	0	PDCD10 (1), CCM2 (1)	0.40000	1.00000	5.062e-8	3.915e-7	249
17 alpha-hydroxyprogesterone aldolase deficiency	Male pseudohypopituitarism	2	2	AKR1C2 (2), AKR1C4 (2)	0.40000	1.00000	5.062e-8	3.915e-7	363
22q13 monosomy syndrome	22q13.3 deletion syndrome	2	2	INS (2), SHANK3 (2)	0.40000	1.00000	5.062e-8	3.915e-7	224
Acrofacial dysostosis	Curry-hall syndrome	2	2	EVC (2), EVC2 (2)	0.40000	1.00000	5.062e-8	3.915e-7	233
Alport syndrome, x-linked	X-linked diffuse leiomyomatosis with alport syndrome	2	2	COL4A5 (4), COL4A6 (2)	0.40000	1.00000	5.062e-8	3.915e-7	91
Aphasia	Dysphasia	2	2	PLAT (2), L1CAM (2)	0.40000	1.00000	5.062e-8	3.915e-7	29
Aniridia	Anophthalmia	3	3	ELP4 (5), PAX6 (4), SOX2 (2)	0.14286	0.33333	5.010e-8	3.915e-7	
Autoinflammatory syndrome	Hyper-immunoglobulin d syndrome	3	1	MVK (3), HMGCR (1), MMAB (1)	0.07692	0.75000	5.100e-8	3.944e-7	
Crest syndrome	Scleroderma	4	4	CAV1 (2), IRF5 (3), STAT4 (3), CCN2 (2)	0.08696	0.19048	5.124e-8	3.961e-7	22
Body mass index	Body weight	3	3	FTO (2), MC4R (3), PCSK1 (2)	0.13636	0.37500	5.139e-8	3.969e-7	
Complex cortical dysplasia with other brain malformations	Congenital fibrosis of extraocular muscles	3	3	TUBB (3), TUBB3 (4), TUBB2B (6)	0.13636	0.37500	5.139e-8	3.969e-7	144
Cystitis	Interstitial cystitis	4	4	NGF (2), CXCL10 (2), CXCL9 (2), CXCL11 (2)	0.07692	0.26667	5.219e-8	4.030e-7	
Bronchial disease	Bronchitis	4	0	CASP14 (1), HOMEZ (1), PPP2R5E (1), TEKTL1 (1)	0.08333	0.22222	5.236e-8	4.040e-7	
Hemangiosarcoma	Transitional cell carcinoma	4	0	TP53 (1), CSF3 (1), HRAS (1), CCND1 (1)	0.08333	0.22222	5.236e-8	4.040e-7	4
Byzanthine arch palate	Mitral valve prolapse	4	0	FBN1 (1), PLOD1 (1), NSDHL (1), MAP2K2 (1)	0.07018	0.30769	5.338e-8	4.118e-7	
Nasopharyngeal carcinoma	Sezary syndrome	4	1	PTEN (1), TP53 (3), ARID1A (1), CDKN2A (1)	0.08696	0.18182	5.366e-8	4.138e-7	
Cardiac embolism	Glaucoma	9	3	GLIS3 (2), KCNN3 (1), RBFOX1 (1), CAV2 (3), ABO (1), TEK (5), GRM5 (1), HNRNPA1L3 (1), TYR (1)	0.03261	0.18000	5.402e-8	4.164e-7	
Cecal neoplasms	Uterine neoplasms	3	0	CTNNB1 (1), KRAS (1), CCND1 (1)	0.07500	0.75000	5.537e-8	4.267e-7	
Cerebellar atrophy	Dandy-walker syndrome	4	0	HYLS1 (1), PUS3 (1), MAGED2 (1), TMEM47 (1)	0.08511	0.20000	5.549e-8	4.275e-7	
Aortic disease	Bonnevie-ullrich syndrome	3	3	CAT (2), SOD2 (2), SOD1 (2)	0.12500	0.42857	5.558e-8	4.279e-7	294
Occupational disease	Pleural diseases	3	2	TIMP2 (2), TGFB1 (2), CARD8 (1)	0.14286	0.30000	5.622e-8	4.326e-7	12
Costello syndrome	Myelomonocytic leukemia	3	3	KRAS (4), NRAS (4), PTPN11 (6)	0.14286	0.30000	5.622e-8	4.326e-7	49
Hyperhomocysteinemia	Neural tube defect	4	4	MTHFR (2), MTRR (2), CBS (2), MTR (2)	0.06897	0.30769	5.821e-8	4.477e-7	
Autoimmune musculoskeletal system disorder	Cutaneous lupus erythematosus	3	0	HLA-DQA1 (1), HLA-DRB1 (1), ITGAM (1)	0.14286	0.27273	5.946e-8	4.571e-7	1
Congenital fiber type disproportion myopathy	Congenital structural myopathy	3	1	MTM1 (1), RYR1 (1), TPM3 (3)	0.14286	0.27273	5.946e-8	4.571e-7	377
Adenoid cystic carcinoma	Coffin-siris syndrome	5	5	ARID1A (5), SMARCA2 (2), SMARCE1 (7), SOX4 (6), SOX11 (4)	0.04425	0.29412	6.075e-8	4.668e-7	
Cystic fibrosis	Cystic fibrosis-related diabetes	3	1	CEBPB (1), RAB7B (1), SLC26A9 (4)	0.04762	1.00000	6.217e-8	4.775e-7	
Endometrial neoplasms	Pancreatic neoplasms	10	3	HNF1B (2), PTEN (1), MSH6 (2), PPARG (2), CXCL8 (1), CNR2 (1), CNR1 (1), TNFSF10 (1), CDH1 (1), MYC (1)	0.04167	0.08547	6.236e-8	4.788e-7	
Cor pulmonale	Venous insufficiency	3	0	ABO (1), SLC19A2 (1), F5 (1)	0.13636	0.33333	6.261e-8	4.805e-7	
Myasthenia gravis	Nasopharyngeal neoplasms	5	4	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2), HLA-B (2), C6orf15 (1)	0.06494	0.13158	6.262e-8	4.805e-7	1
Congenital nasopharyngeal atresia	Male infertility	6	1	DNAH5 (1), CCDC40 (1), DNAH11 (1), DNAI1 (1), ODAD2 (1), DNAAF4 (2)	0.04412	0.20000	6.316e-8	4.845e-7	
Edema	Hypercalcemia	4	4	TNF (2), IL6 (2), PTHLH (2), CALCA (2)	0.06780	0.30769	6.335e-8	4.858e-7	
Kidney failure	Preeclampsia	12	9	CP (2), ACE (2), AGT (2), SERPINE1 (2), NOS3 (2), HMOX1 (2), MTHFR (2), PPARG (2), FGF5 (1), PRDM8 (1), FTO (1), EDN1 (2)	0.03550	0.12245	6.360e-8	4.875e-7	73
Pontocerebellar hypoplasia	Visual disorder	4	4	TSEN2 (7), TSEN54 (7), CLN5 (2), TSEN34 (6)	0.08333	0.20000	6.366e-8	4.877e-7	
Neuronal ceroid lipofuscinosis	Visual disorder	4	4	CLN3 (7), CLN6 (7), PPT1 (7), CLN5 (7)	0.08333	0.20000	6.366e-8	4.877e-7	191
Oral submucous fibrosis	Varicose veins	3	3	MMP1 (2), MMP9 (2), TIMP1 (2)	0.12000	0.42857	6.537e-8	5.000e-7	
Exudative retinopathy	Retinopathy of prematurity	3	2	PRSS23 (1), FZD4 (2), NDP (2)	0.12000	0.42857	6.537e-8	5.000e-7	189
Cryptophthalmos syndrome	Fraser syndrome	3	3	FRAS1 (7), GRIP1 (6), FREM2 (6)	0.12000	0.42857	6.537e-8	5.000e-7	90
Antiphospholipid syndrome	Benign hereditary chorea	3	0	HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1)	0.12000	0.42857	6.537e-8	5.000e-7	1
Diabetes microvascular complications	Transient ischemic attack	3	3	EPO (3), SOD2 (3), IL1RN (3)	0.10714	0.50000	6.634e-8	5.073e-7	
Atrial septal defect	Hypoplastic left heart syndrome	4	3	FOXP1 (1), MYH6 (6), TBX20 (6), NKX2-5 (6)	0.08000	0.22222	6.690e-8	5.114e-7	41
Cadasil	Vascular dementia	4	2	TREX1 (1), NOTCH3 (2), ATRIP (1), HTRA1 (2)	0.03053	0.66667	6.747e-8	5.155e-7	
Brachydactyly	Congenital cartilage disorder	4	1	SLC26A2 (1), BMPR1B (7), TRPS1 (1), PTH1R (1)	0.08333	0.19048	6.846e-8	5.230e-7	
Anodontia	Tooth agenesis	3	3	LTBP3 (2), IRX5 (2), MSX1 (6)	0.06977	0.75000	6.996e-8	5.340e-7	
Arteriosclerosis	Primary graft dysfunction	3	3	GATA2 (2), VCAM1 (2), SENP1 (2)	0.06977	0.75000	6.996e-8	5.340e-7	
Dyslexia	Hyperlipidemia	10	7	APOB (3), APOE (3), BCL3 (3), PMFBP1 (1), CETP (2), CSGALNACT1 (1), DNAH11 (3), INTS10 (1), ANGPTL4 (3), KLF14 (3)	0.04115	0.09009	7.055e-8	5.384e-7	
Angina pectoris	Carotid artery disease	4	3	PLAU (2), TLR4 (2), MMP1 (1), MMP9 (2)	0.06250	0.33333	7.059e-8	5.385e-7	
Diabetic cardiomyopathy	Vascular system injury	3	3	SPP1 (2), TNF (2), AGTR2 (2)	0.13636	0.30000	7.153e-8	5.451e-7	194
Intervertebral disc disease	Stickler syndrome	3	3	COL11A1 (6), COL9A2 (7), COL9A3 (8)	0.13636	0.30000	7.153e-8	5.451e-7	
Hemochromatosis	Iron deficiency anemia	3	3	HFE (6), TNF (2), SLC11A2 (2)	0.13636	0.30000	7.153e-8	5.451e-7	
Hemangiosarcoma	Urologic neoplasms	3	0	TP53 (1), VEGFA (1), CCND1 (1)	0.12500	0.37500	7.484e-8	5.701e-7	
Hearing loss with stapes fixation	Keratitis-ichthyosis-deafness syndrome	2	2	GJB6 (2), GJB2 (3)	0.40000	0.66667	7.592e-8	5.716e-7	68
Hemoglobin barts fetalis syndrome	Hemoglobin m disease	2	2	HBA1 (3), HBA2 (2)	0.40000	0.66667	7.592e-8	5.716e-7	24
Hemoglobin h disease	Hemoglobin m disease	2	2	HBA1 (5), HBA2 (5)	0.40000	0.66667	7.592e-8	5.716e-7	24
Hepatic methionine adenosyltransferase deficiency	Sulfur amino acid metabolism disorder	2	0	AHCY (1), GNMT (1)	0.40000	0.66667	7.592e-8	5.716e-7	112
Episodic pain syndrome	Erythromelalgia	2	2	SCN10A (5), SCN11A (4)	0.40000	0.66667	7.592e-8	5.716e-7	171
S-adenosylhomocysteine hydrolase deficiency	Sulfur amino acid metabolism disorder	2	1	AHCY (2), GNMT (1)	0.40000	0.66667	7.592e-8	5.716e-7	112
Keratitis-ichthyosis-deafness syndrome	X-linked hearing loss with perilymphatic gusher	2	2	GJB6 (2), GJB2 (4)	0.40000	0.66667	7.592e-8	5.716e-7	68
Lacrimoauriculodentodigital syndrome	Saethre-chotzen syndrome	2	2	FGFR3 (5), FGFR2 (6)	0.40000	0.66667	7.592e-8	5.716e-7	321
Ladd syndrome	Saethre-chotzen syndrome	2	2	FGFR3 (4), FGFR2 (6)	0.40000	0.66667	7.592e-8	5.716e-7	321
Skeletal system disease	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.40000	0.66667	7.592e-8	5.716e-7	1
Cystine urolithiasis	Hypotonia-cystinuria syndrome	2	2	PREPL (2), SLC3A1 (2)	0.40000	0.66667	7.592e-8	5.716e-7	
Deafness, aminoglycoside-induced	Deafness, nonsyndromic sensorineural, mitochondrial	2	0	ND1 (1), COX1 (1)	0.40000	0.66667	7.592e-8	5.716e-7	244
Carnevale syndrome	Malpuech facial clefting syndrome	2	2	COLEC11 (2), MASP1 (2)	0.40000	0.66667	7.592e-8	5.716e-7	292
Chondrocalcinosis	Craniometaphyseal dysplasia	2	1	ANKH (6), OTULIN (1)	0.40000	0.66667	7.592e-8	5.716e-7	208
Chromosome 3p25 monosomy	Rippling muscle disease	2	2	OXTR (2), CAV3 (6)	0.40000	0.66667	7.592e-8	5.716e-7	349
3mc syndrome	Carnevale syndrome	2	2	COLEC11 (3), MASP1 (3)	0.40000	0.66667	7.592e-8	5.716e-7	292
Acute disseminated encephalomyelitis	Benign mucous membrane pemphigoid with ocular involvement	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.40000	0.66667	7.592e-8	5.716e-7	1
Acute disseminated encephalomyelitis	Bouillaud’s disease	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.40000	0.66667	7.592e-8	5.716e-7	1
Acute disseminated encephalomyelitis	Benign mucous membrane pemphigoid	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.40000	0.66667	7.592e-8	5.716e-7	1
Alpha thalassemia	Hemoglobin m disease	2	2	HBA1 (3), HBA2 (3)	0.40000	0.66667	7.592e-8	5.716e-7	24
Anastomosing haemangioma	Capillary malformation	2	2	GNA11 (2), GNAQ (2)	0.40000	0.66667	7.592e-8	5.716e-7	65
Benign mucous membrane pemphigoid	Bouillaud’s disease	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.40000	0.66667	7.592e-8	5.716e-7	1
Benign mucous membrane pemphigoid with ocular involvement	Bouillaud’s disease	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.40000	0.66667	7.592e-8	5.716e-7	1
Blepharophimosis syndrome	Blepharophimosis-intellectual disability syndrome	2	2	KAT6B (3), MED12 (5)	0.40000	0.66667	7.592e-8	5.716e-7	
Bouillaud’s disease	Skeletal system disease	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.40000	0.66667	7.592e-8	5.716e-7	1
Bouillaud’s disease	Wheat allergic reaction	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.40000	0.66667	7.592e-8	5.716e-7	1
Capillary malformation	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	2	1	GNA11 (1), PIK3CA (3)	0.40000	0.66667	7.592e-8	5.716e-7	65
atypical hemolytic-uremic syndrome	Thrombotic microangiopathy	2	2	CFI (2), CFH (2)	0.40000	0.66667	7.592e-8	5.716e-7	32
Congenital palmoplantar and perioral keratoderma of olmsted	Olmsted syndrome	2	2	PERP (4), TRPV3 (5)	0.40000	0.66667	7.592e-8	5.716e-7	
Coronal craniosynostosis	Saethre-chotzen syndrome	2	2	FGFR3 (2), TWIST1 (6)	0.40000	0.66667	7.592e-8	5.716e-7	
Craniofacial dysostosis	Lacrimoauriculodentodigital syndrome	2	2	FGFR3 (5), FGFR2 (4)	0.40000	0.66667	7.592e-8	5.716e-7	321
Craniofacial dysostosis	Ladd syndrome	2	2	FGFR3 (3), FGFR2 (5)	0.40000	0.66667	7.592e-8	5.716e-7	321
Craniofacial dysostosis	Saethre-chotzen syndrome	2	2	FGFR3 (2), FGFR2 (6)	0.40000	0.66667	7.592e-8	5.716e-7	321
Amelogenesis imperfecta	Other epidermolysis bullosa	3	2	COL17A1 (2), LAMB3 (5), LAMC2 (1)	0.10345	0.50000	7.537e-8	5.716e-7	
Beta thalassemia	Hereditary hemochromatosis	3	2	TFR2 (2), HFE (1), HAMP (2)	0.11538	0.42857	7.625e-8	5.739e-7	148
Cataract-microcornea syndrome	Congenital total cataract	3	3	CRYBB2 (3), CRYAA (3), GJA8 (4)	0.13043	0.33333	7.703e-8	5.796e-7	51
Hematuria	Steroid-resistant nephrotic syndrome	3	2	COL4A5 (1), COL4A3 (4), COL4A4 (5)	0.13636	0.27273	7.727e-8	5.812e-7	
Fetal akinesia deformation sequence	Postsynaptic congenital myasthenic syndrome	3	3	RAPSN (5), MUSK (5), DOK7 (5)	0.13636	0.25000	7.925e-8	5.956e-7	5
Ductal carcinoma of breast	Papilloma	3	0	SOD2 (1), PTGS2 (1), ERBB2 (1)	0.13636	0.25000	7.925e-8	5.956e-7	270
Autoimmune polyendocrine syndrome	Nasopharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.06667	0.75000	8.099e-8	6.083e-7	1
Nasopharyngeal neoplasms	Oropharyngeal neoplasms	3	3	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2)	0.06667	0.75000	8.099e-8	6.083e-7	1
Hemoglobin e disease	Lepore-beta-thalassemia syndrome	2	2	HBB (3), HBD (2)	0.33333	1.00000	8.436e-8	6.270e-7	18
Hyperuricemic nephropathy	Juvenile hyperuricemic nephropathy	2	2	REN (5), UMOD (3)	0.33333	1.00000	8.436e-8	6.270e-7	
methemoglobinemia, alpha type	Thalassemia	2	2	HBA1 (2), HBA2 (2)	0.33333	1.00000	8.436e-8	6.270e-7	24
erythrocytosis, familial, 7	Thalassemia	2	2	HBA1 (2), HBA2 (2)	0.33333	1.00000	8.436e-8	6.270e-7	24
Uinary system neoplasms	Urogenital neoplasms	2	0	SLC2A13 (1), WDR11 (1)	0.33333	1.00000	8.436e-8	6.270e-7	88
Urogenital neoplasms	Vulvar lichen sclerosus	2	2	TP53 (2), CDKN2A (2)	0.33333	1.00000	8.436e-8	6.270e-7	
Jervell and lange-nielsen syndrome	Long qt syndrome, digenic	2	2	KCNQ1 (7), KCNE1 (6)	0.33333	1.00000	8.436e-8	6.270e-7	
Li-fraumeni syndrome	Vulvar lichen sclerosus	2	2	TP53 (7), CDKN2A (3)	0.33333	1.00000	8.436e-8	6.270e-7	45
Paroxysmal familial ventricular fibrillation	Ventricular arrhythmia	2	1	DSP (1), RYR2 (3)	0.33333	1.00000	8.436e-8	6.270e-7	
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	2	2	DPP6 (2), SCN5A (3)	0.33333	1.00000	8.436e-8	6.270e-7	
De sanctis-cacchione syndrome	Uv-sensitive syndrome	2	1	ERCC6 (6), PGBD3 (1)	0.33333	1.00000	8.436e-8	6.270e-7	352
Apert syndrome	Cataract-intellectual disability-hypogonadism syndrome	2	2	RAB3GAP1 (3), RAB3GAP2 (3)	0.33333	1.00000	8.436e-8	6.270e-7	90
Central areolar choroidal dystrophy	Choroidal dystrophy	2	2	PRPH2 (6), GUCY2D (4)	0.33333	1.00000	8.436e-8	6.270e-7	69
Central areolar choroidal dystrophy	Choroidal sclerosis	2	2	PRPH2 (3), GUCY2D (3)	0.33333	1.00000	8.436e-8	6.270e-7	69
Childhood-onset glut1 deficiency syndrome 2	Paroxysmal dyskinesia	2	2	SLC2A1 (3), PRRT2 (2)	0.33333	1.00000	8.436e-8	6.270e-7	85
Christ-siemens-touraine syndrome	X-linked hypohidrotic ectodermal dysplasia	2	2	EDA (2), EDA2R (2)	0.33333	1.00000	8.436e-8	6.270e-7	76
Bloch sulzberger syndrome	Glucose-6-phosphate dehydrogenase deficiency	2	1	G6PD (3), IKBKG (1)	0.33333	1.00000	8.436e-8	6.270e-7	12
Brain small vessel disease	Cerebral small vessel disease	2	2	COL4A2 (3), COL4A1 (5)	0.33333	1.00000	8.436e-8	6.270e-7	33
Brain small vessel disease	Vascular leukoencephalopathy	2	2	COL4A2 (3), COL4A1 (6)	0.33333	1.00000	8.436e-8	6.270e-7	33
Brain small vessel disease	Congenital porencephaly	2	2	COL4A2 (2), COL4A1 (5)	0.33333	1.00000	8.436e-8	6.270e-7	33
Brain small vessel disease	Posttraumatic porencephalic cyst of brain	2	2	COL4A2 (2), COL4A1 (5)	0.33333	1.00000	8.436e-8	6.270e-7	33
Burn-mckeown syndrome	Choanal atresia syndrome	2	2	POLR1A (3), TXNL4A (6)	0.33333	1.00000	8.436e-8	6.270e-7	95
Cortisone reductase deficiency	Hyperandrogenism	2	2	HSD11B1 (6), H6PD (6)	0.33333	1.00000	8.436e-8	6.270e-7	
17p13.3 microduplication syndrome	Miller-dieker syndrome	2	2	PAFAH1B1 (2), YWHAE (2)	0.33333	1.00000	8.436e-8	6.270e-7	225
Acromegaly	Growth hormone-secreting pituitary adenoma	2	1	AIP (1), GPR101 (2)	0.33333	1.00000	8.436e-8	6.270e-7	235
Anaplasia	Intraductal noninfiltrating carcinoma	2	0	CA9 (1), HIF1A (1)	0.33333	1.00000	8.436e-8	6.270e-7	99
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Glucose-6-phosphate dehydrogenase deficiency	2	2	G6PD (3), IKBKG (2)	0.33333	1.00000	8.436e-8	6.270e-7	12
Ankle fracture	Upper extremity fracture	2	0	CPED1 (1), WNT16 (1)	0.33333	1.00000	8.436e-8	6.270e-7	
Commissural facial cleft	Tessier facial cleft	2	2	SPECC1L (3), PTCH2 (2)	0.33333	1.00000	8.436e-8	6.270e-7	25
Congenital chronic diarrhea with protein-losing enteropathy	Congenital diarrhea	2	2	PLVAP (3), DGAT1 (4)	0.33333	1.00000	8.436e-8	6.270e-7	275
Autoinflammatory disease, systemic, x-linked	Glucose-6-phosphate dehydrogenase deficiency	2	2	G6PD (3), IKBKG (3)	0.33333	1.00000	8.436e-8	6.270e-7	12
Dystonia	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	3	3	GCH1 (4), TSPOAP1 (3), SPR (3)	0.06522	0.75000	8.691e-8	6.457e-7	
Polymyositis	Uveomeningoencephalitic syndrome	3	2	HLA-DQB1 (2), PTPN22 (2), STAT4 (1)	0.11111	0.42857	8.827e-8	6.557e-7	
Differentiated thyroid carcinoma	Papillary thyroid cancer	4	4	BRAF (2), RET (2), CCDC6 (2), NKX2-1 (2)	0.06667	0.28571	8.849e-8	6.568e-7	
Diabetic cardiomyopathy	Hypertrophy	4	4	AGT (2), IGF2R (2), LEPR (2), AGTR2 (2)	0.06667	0.28571	8.849e-8	6.568e-7	
Aortic disease	Turner syndrome	3	3	CAT (2), SOD2 (2), SOD1 (2)	0.12000	0.37500	8.885e-8	6.593e-7	294
Diabetic retinopathy	Preeclampsia	10	8	ACE (2), AGT (2), PTPRN2 (1), SERPINE1 (2), NOS3 (2), MTHFR (2), PPARG (2), FTO (1), EDN1 (2), FLT1 (4)	0.03953	0.10204	8.930e-8	6.624e-7	
Colobomatous microphthalmia	Septo-optic dysplasia	3	3	SHH (2), SOX2 (3), OTX2 (2)	0.13043	0.30000	8.938e-8	6.626e-7	
Delirium	Dyskinesia, drug-induced	3	3	DRD2 (2), DRD3 (2), TH (2)	0.13043	0.30000	8.938e-8	6.626e-7	118
Ehlers-danlos syndrome	Myopia	7	5	FBN1 (2), FBN2 (1), FLNA (2), MYH11 (1), ZNF469 (2), AEBP1 (6), SLC39A13 (5)	0.04094	0.15909	8.987e-8	6.660e-7	
Diabetic angiopathies	Transient ischemic attack	4	1	SERPINF1 (2), EPO (1), SOD2 (1), IL1RN (1)	0.08163	0.16667	9.063e-8	6.711e-7	63
Diabetic peripheral angiopathy	Transient ischemic attack	4	0	SERPINF1 (1), EPO (1), SOD2 (1), IL1RN (1)	0.08163	0.16667	9.063e-8	6.711e-7	63
Azoospermia	Male infertility	6	3	BCL2 (2), TDRD9 (1), CFTR (2), HENMT1 (1), MOV10L1 (1), SYCP3 (2)	0.04348	0.18750	9.527e-8	7.053e-7	11
Cystic fibrosis	Vasculitis	5	2	SERPINA1 (3), MPO (1), NOS3 (1), SERPINA3 (1), PLG (2)	0.05747	0.17241	9.898e-8	7.325e-7	
Frontotemporal dementia	Frontotemporal dementia with or without amyotrophic lateral sclerosis	4	4	GRN (4), C9orf72 (6), CCNF (5), CHMP2B (6)	0.05797	0.33333	1.007e-7	7.451e-7	119
Gastrointestinal stromal tumor	Syntelencephaly	4	4	CDON (3), GLI2 (3), PTCH1 (3), DISP1 (3)	0.06780	0.26667	1.015e-7	7.503e-7	110
Diffuse cutaneous systemic sclerosis	Uveomeningoencephalitic syndrome	3	1	HLA-DQA1 (1), HLA-DRB1 (2), STAT4 (1)	0.10714	0.42857	1.015e-7	7.503e-7	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Lissencephaly	5	2	MACF1 (5), CASK (1), SEPSECS (1), KIAA0586 (1), TUBA1A (5)	0.06098	0.13889	1.027e-7	7.590e-7	124
Lymphocytic b-cell leukemia	Lymphoma	5	1	BCL2 (1), MTHFR (1), PTGS2 (1), IRF4 (2), TNFSF8 (1)	0.06024	0.14706	1.027e-7	7.590e-7	
Intracranial hemorrhage	Thromboembolism	3	0	PLAU (1), PLAT (1), F7 (1)	0.13043	0.25000	1.030e-7	7.597e-7	
Eye neoplasms	Oculocutaneous albinism	3	3	OCA2 (7), TYR (6), SLC24A5 (4)	0.13043	0.25000	1.030e-7	7.597e-7	302
Congenital pes cavus	Sensory neuropathy	3	0	MPZ (1), GDAP1 (1), GJB1 (1)	0.13043	0.25000	1.030e-7	7.597e-7	
Cachexia	Hypercalcemia	3	3	TNF (2), IL6 (2), PTHLH (2)	0.13043	0.25000	1.030e-7	7.597e-7	
Cryptorchidism	Penile hypospadia	3	0	HOXD13 (1), LSM1 (1), NIPBL (1)	0.11538	0.37500	1.045e-7	7.708e-7	111
Non-hodgkins lymphoma	Peptic ulcer disease	10	1	FOXP1 (1), HLA-DQA1 (1), HLA-DQB3 (1), HLA-DRA (1), HLA-DRB1 (2), MECOM (1), TTC33 (1), JRK (1), PSCA (1), LY6K (1)	0.04049	0.08264	1.063e-7	7.840e-7	
Cervical intraepithelial neoplasia	Oral cavity carcinoma	3	0	HLA-DQB1 (1), HLA-B (1), CLPTM1L (1)	0.09375	0.50000	1.073e-7	7.901e-7	1
Diabetic angiopathies	Pancreatic diseases	3	3	AGER (2), HMOX1 (2), ALB (2)	0.09375	0.50000	1.073e-7	7.901e-7	
Diabetic peripheral angiopathy	Pancreatic diseases	3	3	AGER (2), HMOX1 (2), ALB (2)	0.09375	0.50000	1.073e-7	7.901e-7	
Emphysema	Obstructive airway disease	6	6	TP53 (2), SERPINA1 (3), NOS2 (2), CHRNA5 (2), TNFRSF8 (2), HDAC2 (2)	0.04580	0.16667	1.073e-7	7.901e-7	133
Myocardial ischemia	Periodontitis	18	14	CDH2 (3), ABCA1 (2), CDH13 (1), KALRN (2), TCF7L2 (3), TENM2 (1), IL6 (2), GSTM1 (1), FTO (2), GDF15 (3), DAB2IP (2), MMP9 (2)	0.03383	0.11392	1.089e-7	8.015e-7	
Cardiac conduction disease	Sick sinus syndrome	3	2	MYH6 (3), LMNA (1), SCN5A (6)	0.12000	0.33333	1.122e-7	8.252e-7	3
Hematologic disease	Polycythemia vera	3	1	H2BC4 (1), H1-2 (1), JAK2 (4)	0.12000	0.33333	1.122e-7	8.252e-7	24
Kidney neoplasms	Thyroid neoplasms	5	0	BRAF (1), MAPK1 (1), PTGS2 (1), CCND1 (1), SLC5A5 (1)	0.06098	0.12500	1.158e-7	8.512e-7	
Nasal disorder	Pharyngeal disorder	4	0	NEK6 (1), IL7R (1), FBXO33 (1), GAS2L2 (1)	0.07843	0.17391	1.159e-7	8.514e-7	103
Dermatomyositis	Diffuse cutaneous systemic sclerosis	4	1	HLA-DPB1 (1), STAT4 (1), HLA-DPA1 (1), TGFBR1 (2)	0.07843	0.17391	1.159e-7	8.514e-7	22
Hereditary atrial fibrillation	Hereditary bundle branch system defect	3	3	NKX2-5 (2), SCN5A (2), SCN1B (2)	0.10345	0.42857	1.160e-7	8.519e-7	3
Gross motor development delay	Neuromuscular disease	4	0	SCN4A (1), RYR1 (1), MYH7 (1), TTN (1)	0.07273	0.22222	1.163e-7	8.544e-7	
Gastrointestinal neoplasms	Medulloblastoma	3	0	APC (1), ERBB2 (1), HIC1 (1)	0.05882	0.75000	1.209e-7	8.870e-7	37
Gorlin syndrome	Medulloblastoma	3	3	PTCH1 (3), SUFU (5), PTCH2 (4)	0.05882	0.75000	1.209e-7	8.870e-7	
Graft-versus-host disease	Mucositis	3	3	IL10 (3), MTHFR (2), IL1RN (2)	0.11111	0.37500	1.219e-7	8.942e-7	
Amenorrhea	Congenital adrenal hyperplasia	3	3	CYP17A1 (3), CYP19A1 (2), POR (5)	0.12500	0.27273	1.228e-7	9.008e-7	193
Ischemic heart disease	Preeclampsia	10	10	ACE (2), SERPINE1 (2), NOS3 (2), HMOX1 (2), MTHFR (2), FTO (2), FURIN (2), EDN1 (2), CLCN6 (2), DDAH2 (2)	0.03861	0.10204	1.252e-7	9.180e-7	73
Polycystic kidney disease with tuberous sclerosis	Tuberous sclerosis complex	2	2	PKD1 (2), TSC2 (7)	0.28571	1.00000	1.265e-7	9.200e-7	48
Polycystic kidneys, severe infantile with tuberous sclerosis	Tuberous sclerosis complex	2	1	PKD1 (1), TSC2 (7)	0.28571	1.00000	1.265e-7	9.200e-7	48
Methemoglobinemia	methemoglobinemia, alpha type	2	2	HBA1 (5), HBA2 (2)	0.28571	1.00000	1.265e-7	9.200e-7	24
erythrocytosis, familial, 7	Methemoglobinemia	2	2	HBA1 (5), HBA2 (2)	0.28571	1.00000	1.265e-7	9.200e-7	24
Hydatidiform mole	Partial hydatidiform mole	2	2	NLRP7 (6), KHDC3L (6)	0.28571	1.00000	1.265e-7	9.200e-7	
Amegakaryocytic thrombocytopenia	Thrombocythemia	2	2	MPL (5), THPO (4)	0.28571	1.00000	1.265e-7	9.200e-7	98
Congenital amegakaryocytic thrombocytopenia	Thrombocythemia	2	2	MPL (7), THPO (6)	0.28571	1.00000	1.265e-7	9.200e-7	98
Amegakaryocytic thrombocytopenia	Thrombocytosis	2	2	MPL (5), THPO (6)	0.28571	1.00000	1.265e-7	9.200e-7	98
Congenital amegakaryocytic thrombocytopenia	Thrombocytosis	2	2	MPL (6), THPO (7)	0.28571	1.00000	1.265e-7	9.200e-7	98
Eosinophilic leukemia	Hypereosinophilic syndrome	2	2	PDGFRA (5), FIP1L1 (3)	0.28571	1.00000	1.265e-7	9.200e-7	139
Eyelid disease	Visual system disorder	2	0	EFEMP1 (1), PNPT1 (1)	0.28571	1.00000	1.265e-7	9.200e-7	152
Turnpenny-fry syndrome	Wolfram syndrome	2	1	PCGF2 (5), CISD3 (1)	0.28571	1.00000	1.265e-7	9.200e-7	
Aortic arch syndrome	Thromboangiitis obliterans	2	0	HLA-DRB1 (1), HLA-A (1)	0.28571	1.00000	1.265e-7	9.200e-7	
Carotid artery thrombosis	Glanzmann thrombasthenia	2	2	ITGB3 (8), ITGA2B (8)	0.28571	1.00000	1.265e-7	9.200e-7	67
Carotid artery thrombosis	platelet-type bleeding disorder 16	2	2	ITGB3 (3), ITGA2B (3)	0.28571	1.00000	1.265e-7	9.200e-7	67
Cerebellar ataxia, intellectual disability, and dysequilibrium	Cerebellar ataxia, mental retardation, and dysequilibrium	2	2	WDR81 (3), CA8 (4)	0.28571	1.00000	1.265e-7	9.200e-7	260
Cerebellar ataxia, mental retardation, and dysequilibrium	Dysequilibrium syndrome	2	2	WDR81 (3), CA8 (3)	0.28571	1.00000	1.265e-7	9.200e-7	260
Cerebral cavernous malformation	Congenital cerebral aneurysm	2	2	PDCD10 (7), CCM2 (7)	0.28571	1.00000	1.265e-7	9.200e-7	249
Cerebral cavernous malformation	Congenital malformation of cerebral vessels	2	2	PDCD10 (7), CCM2 (7)	0.28571	1.00000	1.265e-7	9.200e-7	249
Cerebrooculofacioskeletal syndrome	De sanctis-cacchione syndrome	2	1	ERCC6 (5), PGBD3 (1)	0.28571	1.00000	1.265e-7	9.200e-7	352
Benign infantile epilepsy	Benign neonatal-infantile seizures	2	2	KCNQ2 (3), SCN2A (2)	0.28571	1.00000	1.265e-7	9.200e-7	213
Blepharocheilodontic syndrome	Cleft lip with or without cleft palate	2	2	CTNND1 (7), CDH1 (5)	0.28571	1.00000	1.265e-7	9.200e-7	165
Axenfeld anomaly	Axenfeld-rieger syndrome	2	2	FOXC1 (6), PITX2 (6)	0.28571	1.00000	1.265e-7	9.200e-7	82
Axenfeld-rieger syndrome	Iridogoniodysgenesis	2	2	FOXC1 (6), PITX2 (6)	0.28571	1.00000	1.265e-7	9.200e-7	82
Cockayne syndrome	De sanctis-cacchione syndrome	2	1	ERCC6 (7), PGBD3 (1)	0.28571	1.00000	1.265e-7	9.200e-7	352
Carpal tunnel syndrome	Congenital cartilage disorder	5	5	COL11A1 (2), COL11A2 (2), COMP (3), ADAMTSL2 (2), COL10A1 (2)	0.05618	0.16667	1.284e-7	9.336e-7	44
Avascular necrosis of bone	Thromboembolism	3	3	F2 (2), PLAT (2), F5 (2)	0.12500	0.25000	1.310e-7	9.512e-7	
Osteonecrosis of medial femoral condyle	Thromboembolism	3	3	F2 (2), PLAT (2), F5 (2)	0.12500	0.25000	1.310e-7	9.512e-7	
Eye neoplasms	Sebaceous gland disease	3	0	HERC2 (1), IRF4 (1), TYR (1)	0.12500	0.25000	1.310e-7	9.512e-7	
Optic neuritis	Senile cataract	3	0	CAT (1), GSTT1 (1), GSTM1 (1)	0.12500	0.23077	1.338e-7	9.712e-7	
Autoimmune polyendocrine syndrome	Narcolepsy	3	3	HLA-DQA1 (2), HLA-DRB1 (4), HLA-DQB1 (4)	0.05660	0.75000	1.366e-7	9.910e-7	1
Cataplexy and narcolepsy	Narcolepsy	3	3	P2RY11 (3), PPAN (2), PPAN-P2RY11 (2)	0.05660	0.75000	1.366e-7	9.910e-7	1
Generalized epilepsy	Lennox-gastaut syndrome	4	3	CACNA1A (2), CUX2 (3), SCN1A (4), POLG (1)	0.05405	0.33333	1.395e-7	1.012e-6	
Double outlet right ventricle	Heterotaxy syndrome	3	2	CFC1 (5), CERS1 (1), GDF1 (2)	0.10714	0.37500	1.411e-7	1.023e-6	
Henoch schoenlein purpura	Proteinuria	4	4	AGT (2), HLA-DQA1 (3), HLA-DRB1 (2), IL1RN (2)	0.07018	0.22222	1.423e-7	1.031e-6	
Asbestosis	Bronchopulmonary dysplasia	4	3	GSTT1 (2), IL1B (2), TNF (2), GSTM1 (1)	0.06780	0.23529	1.473e-7	1.067e-6	
Arima syndrome	Cystic kidney disease	3	0	CC2D2A (1), CEP290 (1), TMEM216 (1)	0.09677	0.42857	1.489e-7	1.078e-6	8
Idiopathic pulmonary fibrosis	Thyroid neoplasms	6	6	TERT (4), TNF (2), PTGS2 (2), HIF1A (2), ABCC10 (2), BRD4 (2)	0.04878	0.13043	1.497e-7	1.084e-6	
Malnutrition	Neural tube defects, folate-sensitive	2	2	MTHFR (3), MTR (3)	0.33333	0.66667	1.518e-7	1.087e-6	155
mismatch repair cancer syndrome 1	Turcot syndrome	2	2	PMS2 (2), MLH1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	39
Muir-torre syndrome	Turcot syndrome	2	2	PMS2 (2), MLH1 (4)	0.33333	0.66667	1.518e-7	1.087e-6	39
Autoimmune polyendocrine syndrome	Wheat allergic reaction	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
Oropharyngeal neoplasms	Wheat allergic reaction	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
Episodic kinesigenic dyskinesia	Paroxysmal dystonic choreoathetosis	2	2	PRRT2 (5), KCNA1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	85
Episodic kinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	2	2	PRRT2 (6), KCNA1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	85
Episodic pain syndrome	Paroxysmal extreme pain disorder	2	2	SCN10A (5), SCN11A (4)	0.33333	0.66667	1.518e-7	1.087e-6	171
Bouillaud’s disease	Esophageal achalasia	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
Oropharyngeal neoplasms	Skeletal system disease	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
Penile neoplasms	Schimmelpenning-feuerstein-mims syndrome	2	2	KRAS (2), HRAS (2)	0.33333	0.66667	1.518e-7	1.087e-6	17
Cystinuria	Hypotonia-cystinuria syndrome	2	2	PREPL (2), SLC3A1 (7)	0.33333	0.66667	1.518e-7	1.087e-6	
Developmental venous anomaly	Parkes weber syndrome	2	1	RASA1 (4), CCNH (1)	0.33333	0.66667	1.518e-7	1.087e-6	
Doyne honeycomb retinal dystrophy	Thrombotic microangiopathy	2	1	CFI (1), CFH (2)	0.33333	0.66667	1.518e-7	1.087e-6	32
Autoimmune polyendocrine syndrome	Benign mucous membrane pemphigoid	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.33333	0.66667	1.518e-7	1.087e-6	1
Benign mucous membrane pemphigoid	Oropharyngeal neoplasms	2	2	HLA-DRB1 (2), HLA-DQB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
Autoimmune polyendocrine syndrome	Benign mucous membrane pemphigoid with ocular involvement	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.33333	0.66667	1.518e-7	1.087e-6	1
Benign mucous membrane pemphigoid with ocular involvement	Oropharyngeal neoplasms	2	2	HLA-DRB1 (2), HLA-DQB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
Bladder cancer	Seminoma	2	2	FGFR3 (2), HRAS (2)	0.33333	0.66667	1.518e-7	1.087e-6	17
Bladder cancer	Schimmelpenning-feuerstein-mims syndrome	2	0	KRAS (1), HRAS (1)	0.33333	0.66667	1.518e-7	1.087e-6	17
Budd-chiari syndrome	Hepatic vein thrombosis	2	2	JAK2 (4), F5 (4)	0.33333	0.66667	1.518e-7	1.087e-6	84
Acrofacial dysostosis	Weyers acrofacial dysostosis	2	2	EVC (3), EVC2 (4)	0.33333	0.66667	1.518e-7	1.087e-6	233
Acute disseminated encephalomyelitis	Autoimmune polyendocrine syndrome	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.33333	0.66667	1.518e-7	1.087e-6	1
Acute disseminated encephalomyelitis	Oropharyngeal neoplasms	2	2	HLA-DRB1 (2), HLA-DQB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
Congenital fusion of ribs	Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome	2	1	RAB5IF (4), TGIF2-RAB5IF (1)	0.33333	0.66667	1.518e-7	1.087e-6	418
Congenital pain insensitivity	Erythromelalgia	2	2	SCN11A (2), SCN9A (5)	0.33333	0.66667	1.518e-7	1.087e-6	171
Carnevale syndrome	Craniofacial ulnar renal syndrome	2	2	COLEC11 (2), MASP1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	292
atypical hemolytic-uremic syndrome	Doyne honeycomb retinal dystrophy	2	2	CFI (2), CFH (3)	0.33333	0.66667	1.518e-7	1.087e-6	32
Autoimmune polyendocrine syndrome	Skeletal system disease	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.33333	0.66667	1.518e-7	1.087e-6	1
autosomal recessive polycystic kidney disease	Caroli disease	2	2	PKD1 (3), PKHD1 (4)	0.33333	0.66667	1.518e-7	1.087e-6	74
Arthrogryposis	Distal arthrogryposis	3	3	ECEL1 (5), MYH3 (5), TPM2 (5)	0.12000	0.27273	1.511e-7	1.087e-6	258
Autoimmune hepatitis	Narcolepsy	5	4	HLA-DQA1 (2), HLA-DRB1 (4), HLA-DQB1 (4), HLA-DPB1 (1), PDCD1 (2)	0.05882	0.13158	1.506e-7	1.087e-6	
Adenoid cystic carcinoma	Cholangiocarcinoma	6	1	PTEN (1), TP53 (1), ARID1A (1), KMT2C (1), FGFR2 (1), BRCA1 (2)	0.04511	0.15789	1.505e-7	1.087e-6	
Diabetic polyneuropathy	Hypertensive nephropathy	3	0	NYAP2 (1), TCF7L2 (1), FTO (1)	0.11111	0.33333	1.566e-7	1.121e-6	
Intrahepatic cholestasis	Intrahepatic cholestasis of pregnancy	3	3	ATP8B1 (3), ABCB11 (3), ABCB4 (4)	0.11111	0.33333	1.566e-7	1.121e-6	135
Polynesian bronchiectasis	Situs inversus	3	0	DNAH5 (1), DNAH11 (1), DNAAF19 (1)	0.11111	0.33333	1.566e-7	1.121e-6	
Developmental regression	Nystagmus	4	0	NMNAT1 (1), GALC (1), GNB1 (1), SGSH (1)	0.06897	0.22222	1.568e-7	1.121e-6	
Diabetic nephropathy type 2	Hypertensive heart disease	3	0	TCF7L2 (1), FTO (1), PDILT (1)	0.11538	0.30000	1.601e-7	1.144e-6	
Giant cell arteritis	Pleural diseases	3	3	IL4 (2), IFNG (2), CCL2 (2)	0.11538	0.30000	1.601e-7	1.144e-6	
Endometrial hyperplasia	Hemangiosarcoma	3	3	TP53 (2), CTNNB1 (2), KRAS (2)	0.11538	0.30000	1.601e-7	1.144e-6	
Dentinogenesis imperfecta	Osteoporosis-pseudoglioma syndrome	4	4	AMBN (2), COL1A1 (2), COL1A2 (2), DSPP (8)	0.06452	0.25000	1.601e-7	1.144e-6	
Bone fragility with contractures, arterial rupture, and deafness	Dentinogenesis imperfecta	4	4	AMBN (2), COL1A1 (2), COL1A2 (2), DSPP (8)	0.06452	0.25000	1.601e-7	1.144e-6	
Orofacial cleft	Tooth agenesis	7	6	IRF6 (5), BMP4 (5), LRP6 (5), MMP9 (1), MSX1 (6), FGFR1 (2), AXIN2 (2)	0.03665	0.17073	1.612e-7	1.151e-6	
Congenital stationary night blindness	inherited retinal dystrophy	3	3	PDE6B (4), GNAT1 (4), SLC24A1 (4)	0.12000	0.25000	1.637e-7	1.168e-6	160
Cortical development malformation	Hemimegalencephaly	3	3	AKT3 (3), PIK3CA (3), MTOR (3)	0.09375	0.42857	1.675e-7	1.195e-6	
Congestive ophthalmopathy	Granulomatosis with polyangiitis	3	2	IL10 (1), CTLA4 (2), PTPN22 (2)	0.12000	0.23077	1.702e-7	1.211e-6	153
Carotid artery stenosis	Coronary restenosis	3	3	MMP3 (2), SPP1 (2), MTHFR (2)	0.12000	0.23077	1.702e-7	1.211e-6	60
Oculocutaneous albinism	Sebaceous gland disease	3	3	TYR (6), MC1R (5), SLC45A2 (6)	0.12000	0.23077	1.702e-7	1.211e-6	
Granulomatosis with polyangiitis	Myopathic ophthalmopathy	3	2	IL10 (1), CTLA4 (2), PTPN22 (2)	0.12000	0.23077	1.702e-7	1.211e-6	153
Avascular necrosis of bone	Senile cataract	3	0	CAT (1), GSTT1 (1), GSTM1 (1)	0.12000	0.23077	1.702e-7	1.211e-6	23
Osteonecrosis of medial femoral condyle	Senile cataract	3	0	CAT (1), GSTT1 (1), GSTM1 (1)	0.12000	0.23077	1.702e-7	1.211e-6	23
Avascular necrosis of bone	Raynaud disease	3	3	NOS3 (2), GSTT1 (2), GSTM1 (2)	0.12000	0.23077	1.702e-7	1.211e-6	23
Osteonecrosis of medial femoral condyle	Raynaud disease	3	3	NOS3 (2), GSTT1 (2), GSTM1 (2)	0.12000	0.23077	1.702e-7	1.211e-6	23
Medulloblastoma	Ovarian neoplasms	7	2	STAT3 (1), CTNNB1 (3), ERBB2 (1), MYC (1), BRCA2 (3), CCNE1 (1), SKP2 (1)	0.04023	0.14286	1.752e-7	1.246e-6	
Hallermanns syndrome	Hallervorden spatz syndrome	2	2	GJA1 (2), CHD6 (2)	0.25000	1.00000	1.772e-7	1.249e-6	107
Hyper-igm immunodeficiency syndrome	Hyper-immunoglobulin syndrome	2	2	AICDA (6), CD40 (6)	0.25000	1.00000	1.772e-7	1.249e-6	
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Hyper-igm immunodeficiency syndrome	2	1	G6PD (1), IKBKG (2)	0.25000	1.00000	1.772e-7	1.249e-6	12
Autoinflammatory disease, systemic, x-linked	Hyper-igm immunodeficiency syndrome	2	1	G6PD (1), IKBKG (3)	0.25000	1.00000	1.772e-7	1.249e-6	12
Bloch sulzberger syndrome	Hyper-igm immunodeficiency syndrome	2	0	G6PD (1), IKBKG (1)	0.25000	1.00000	1.772e-7	1.249e-6	12
Iron overload	Vitreoretinochoroidopathy	2	2	BEST1 (5), FTH1 (2)	0.25000	1.00000	1.772e-7	1.249e-6	
Klippel-trenaunay syndrome	Port-wine stain	2	2	GNAQ (2), RASA1 (2)	0.25000	1.00000	1.772e-7	1.249e-6	65
Capillary-lymphatic-venous malformation	Klippel-trenaunay syndrome	2	2	PIK3CA (2), AGGF1 (2)	0.25000	1.00000	1.772e-7	1.249e-6	
Pancreatic trypsinogen deficiency	Vitamin d dependent rickets	2	0	PRSS1 (1), TRB (1)	0.25000	1.00000	1.772e-7	1.249e-6	342
Emery-dreifuss muscular dystrophy	X-linked emery-dreifuss muscular dystrophy	2	2	FHL1 (4), EMD (5)	0.25000	1.00000	1.772e-7	1.249e-6	
Focal cortical dysplasia	Polycystic kidney disease with tuberous sclerosis	2	2	PKD1 (2), TSC2 (4)	0.25000	1.00000	1.772e-7	1.249e-6	48
Focal cortical dysplasia	Polycystic kidneys, severe infantile with tuberous sclerosis	2	1	PKD1 (1), TSC2 (3)	0.25000	1.00000	1.772e-7	1.249e-6	48
Cataract-intellectual disability-hypogonadism syndrome	Cryptophthalmos syndrome	2	2	RAB3GAP1 (3), RAB3GAP2 (3)	0.25000	1.00000	1.772e-7	1.249e-6	90
Cataract-intellectual disability-hypogonadism syndrome	Cyclocephaly	2	2	RAB3GAP1 (3), RAB3GAP2 (3)	0.25000	1.00000	1.772e-7	1.249e-6	90
Benign hereditary chorea	Choreatic disease	2	2	ADCY5 (3), NKX2-1 (3)	0.25000	1.00000	1.772e-7	1.249e-6	
Apoceruloplasmin deficiency	Iron overload	2	2	CP (2), SLC40A1 (2)	0.25000	1.00000	1.772e-7	1.249e-6	188
Apolipoprotein a-i deficiency	Hypoalphalipoproteinemia	2	2	APOA1 (5), ABCA1 (7)	0.25000	1.00000	1.772e-7	1.249e-6	293
Astigmatism	Dyschromatopsia	2	0	PHF3 (1), EYS (1)	0.25000	1.00000	1.772e-7	1.249e-6	
17 alpha-hydroxyprogesterone aldolase deficiency	46,xy disorder of sex developmen	2	2	AKR1C2 (2), AKR1C4 (2)	0.25000	1.00000	1.772e-7	1.249e-6	363
Acral peeling skin syndrome	Peeling skin syndrome	2	2	CSTA (4), TGM5 (4)	0.25000	1.00000	1.772e-7	1.249e-6	
Acromesomelic dysplasia	Congenital scoliosis	2	1	FBN1 (2), LTBP3 (1)	0.25000	1.00000	1.772e-7	1.249e-6	28
Congenital malformation syndromes predominantly involving limbs	Klippel-trenaunay syndrome	2	0	DLX5 (1), SMOC1 (1)	0.25000	1.00000	1.772e-7	1.249e-6	
Congenital exomphalos	Congenital omphalocele	2	0	CHRNA7 (1), PCSK5 (1)	0.25000	1.00000	1.772e-7	1.249e-6	109
Benign epithelial tumor of salivary glands	Russell-silver syndrome	2	2	HMGA2 (2), PLAG1 (2)	0.25000	1.00000	1.772e-7	1.249e-6	
Blue rubber bleb nevus syndrome	Congenital venous anomaly	2	1	GLMN (1), TEK (2)	0.25000	1.00000	1.772e-7	1.249e-6	257
Branchiooculofacial syndrome	Branchiootorenal syndrome	2	2	TFAP2A (5), EYA1 (5)	0.25000	1.00000	1.772e-7	1.249e-6	134
Branchiootic syndrome	Branchiootorenal syndrome	2	2	EYA1 (6), SIX1 (8)	0.25000	1.00000	1.772e-7	1.249e-6	134
Branchiootorenal syndrome	Otofaciocervical syndrome	2	2	EYA1 (6), PAX1 (7)	0.25000	1.00000	1.772e-7	1.249e-6	134
Candle syndrome	Proteasome associated autoinflammatory syndrome	2	2	PSMB8 (6), PSMB4 (4)	0.25000	1.00000	1.772e-7	1.249e-6	
Chloracne	Methemoglobinemia	3	3	HBA1 (5), HBA2 (3), HBB (4)	0.08108	0.50000	1.786e-7	1.258e-6	24
46,xx ovotesticular disorder of sex development	Testicular azoospermia	3	2	NR5A1 (1), DMRT1 (2), MCM9 (2)	0.08108	0.50000	1.786e-7	1.258e-6	
Developmental delay	Postaxial polydactyly	4	0	ND2 (1), COX3 (1), ND5 (1), ND4 (1)	0.07143	0.19048	1.831e-7	1.289e-6	26
Adult myoclonic epilepsy	Myoclonic epilepsy	3	3	RAPGEF2 (3), TNRC6A (3), SAMD12 (3)	0.10000	0.37500	1.854e-7	1.303e-6	284
Dravet syndrome	Myoclonic epilepsy	3	3	GABRA1 (2), SCN1A (6), STXBP1 (3)	0.10000	0.37500	1.854e-7	1.303e-6	
Familial adult myoclonic epilepsy	Myoclonic epilepsy	3	3	RAPGEF2 (5), TNRC6A (5), SAMD12 (5)	0.10000	0.37500	1.854e-7	1.303e-6	284
Familial focal epilepsy with variable foci	Progressive myoclonic epilepsy	3	3	DEPDC5 (5), NPRL2 (5), NPRL3 (5)	0.10000	0.37500	1.854e-7	1.303e-6	
Intellectual developmental disorder, x-linked	X-linked syndromic complex neurodevelopmental disorder	3	3	AP1S2 (2), TFE3 (5), ZFX (5)	0.03333	1.00000	1.867e-7	1.312e-6	129
Marfan syndrome	Mitral valve prolapse	5	4	FBN1 (7), LTBP3 (2), COL5A1 (2), FLNA (1), LTBP2 (2)	0.05814	0.11628	1.879e-7	1.320e-6	50
Intervertebral disc disease	Marshall syndrome	3	3	COL11A1 (6), COL9A2 (2), COL9A3 (3)	0.11111	0.30000	1.901e-7	1.335e-6	
Diffuse large b-cell lymphoma	Waldenstrom macroglobulinemia	3	1	EXOC2 (1), IRF4 (1), MYD88 (2)	0.05085	0.75000	1.919e-7	1.348e-6	1
Genetic predisposition to disease	Substance-induced psychosis	4	0	ACE (1), ESR1 (1), ADORA2A (1), SLC6A3 (1)	0.06452	0.23529	1.920e-7	1.348e-6	
Pancreatic ductal carcinoma	Urethral obstruction	4	0	RELA (1), HEY1 (1), HEY2 (1), HES1 (1)	0.07407	0.15385	1.948e-7	1.367e-6	80
Generalized epilepsy with febrile seizures plus	Lennox-gastaut syndrome	3	3	GABRG2 (3), SCN1A (8), SCN2A (2)	0.11538	0.25000	2.014e-7	1.413e-6	228
Congenital cystic kidney disease	Joubert syndrome	3	2	TMEM231 (5), KIF14 (1), B9D1 (5)	0.05000	0.75000	2.023e-7	1.419e-6	8
Potassium deficiency	Ventricular dysfunction	4	4	INS (2), AGT (2), NPPB (2), ADRB2 (2)	0.06557	0.22222	2.068e-7	1.450e-6	
Cyclocephaly	Holoprosencephaly	3	3	FGF8 (3), GAS1 (5), ZIC2 (6)	0.08824	0.42857	2.092e-7	1.466e-6	
Cerebral arteriovenous malformations	Congenital arteriovenous malformation	3	0	CACNA1H (1), GLI2 (1), ADGRV1 (1)	0.10345	0.33333	2.115e-7	1.481e-6	
Ehlers-danlos syndrome	Mitral valve prolapse	5	5	FBN1 (2), COL5A1 (8), PLOD1 (5), FLNA (2), SLC39A13 (5)	0.05747	0.11364	2.115e-7	1.481e-6	50
Carpal tunnel syndrome	Osteochondrodysplasias	5	5	COL11A1 (3), COL11A2 (2), COMP (3), ADAMTSL2 (3), COL10A1 (2)	0.05435	0.15152	2.119e-7	1.484e-6	44
Autism, x-linked	X-linked complex neurodevelopmental disorder	3	3	NLGN4X (6), PTCHD1 (3), NLGN3 (4)	0.07692	0.50000	2.142e-7	1.499e-6	
Angle closure glaucoma	Avascular necrosis of bone	3	0	CAT (1), NOS3 (1), GSTM1 (1)	0.11538	0.21429	2.165e-7	1.515e-6	23
Angle closure glaucoma	Osteonecrosis of medial femoral condyle	3	0	CAT (1), NOS3 (1), GSTM1 (1)	0.11538	0.21429	2.165e-7	1.515e-6	23
Epidermodysplasia verruciformis	Immunodeficiency	4	4	RHOH (5), CORO1A (3), MST1 (2), IL7 (3)	0.02797	0.57143	2.180e-7	1.524e-6	
Congenital fiber type disproportion myopathy	Nemaline myopathy	3	3	ACTA1 (4), TPM2 (5), TPM3 (5)	0.11111	0.27273	2.200e-7	1.538e-6	
Oral submucous fibrosis	Pleural diseases	3	3	IL6 (2), TGFB1 (2), IFNG (2)	0.10714	0.30000	2.236e-7	1.561e-6	
Esotropia	Oral submucous fibrosis	3	2	TNF (2), PTGS2 (2), CXCL8 (1)	0.10714	0.30000	2.236e-7	1.561e-6	43
Berylliosis	Oral submucous fibrosis	3	3	TNF (2), IL6 (2), TGFB1 (2)	0.10714	0.30000	2.236e-7	1.561e-6	
Dermatitis	Sinusitis	4	3	HLA-DQA1 (3), HLA-DRB1 (1), HLA-B (3), IL13 (2)	0.07018	0.18182	2.234e-7	1.561e-6	
Aortic stenosis	Coronary syndrome	3	0	LPL (1), CELSR2 (1), LPA (1)	0.04839	0.75000	2.244e-7	1.566e-6	
Hirschsprung disease	Waardenburg syndrome	4	3	EDNRB (7), EDN3 (8), POLR2F (1), SOX10 (8)	0.05195	0.30769	2.273e-7	1.586e-6	
Atrial flutter	Cardiac embolism	6	0	PRRX1 (1), GORAB (1), KCNN3 (1), PITX2 (1), ZFHX3 (1), NEURL1 (1)	0.04762	0.12000	2.320e-7	1.618e-6	
Hypoalphalipoproteinemia	Lipoprotein lipase deficiency	3	3	APOB (4), DOCK7 (2), PCSK9 (2)	0.08571	0.42857	2.324e-7	1.620e-6	
Hoyeraal hreidarsson syndrome	X-linked dyskeratosis congenita	2	2	RTEL1 (2), DKC1 (4)	0.22222	1.00000	2.362e-7	1.638e-6	
Combined saposin deficiency	Metachromatic leukodystrophy	2	1	PSAP (5), CDH23 (1)	0.22222	1.00000	2.362e-7	1.638e-6	114
Hereditary chronic pancreatitis	Tropical calcific pancreatitis	2	2	CTRC (2), SPINK1 (5)	0.22222	1.00000	2.362e-7	1.638e-6	210
Visual impairment	Visual system disorder	2	0	EFEMP1 (1), PNPT1 (1)	0.22222	1.00000	2.362e-7	1.638e-6	152
Retinopathy background	Vitreoretinal degeneration	2	0	ABCA4 (1), LRP5 (1)	0.22222	1.00000	2.362e-7	1.638e-6	150
Cavernous malformations of cns	Congenital cerebral aneurysm	2	0	PDCD10 (1), CCM2 (1)	0.22222	1.00000	2.362e-7	1.638e-6	249
Cavernous malformations of cns	Congenital malformation of cerebral vessels	2	0	PDCD10 (1), CCM2 (1)	0.22222	1.00000	2.362e-7	1.638e-6	249
Complement pathway abnormality	Periodontal ehlers-danlos syndrome	2	2	C1S (2), C1R (2)	0.22222	1.00000	2.362e-7	1.638e-6	
Arteriovenous malformations	Capillary malformation-arteriovenous malformation	2	2	KRAS (2), RASA1 (6)	0.22222	1.00000	2.362e-7	1.638e-6	65
Atypical hemolytic uremic syndrome	Mesangiocapillary glomerulonephritis	2	2	CD46 (2), CFH (2)	0.22222	1.00000	2.362e-7	1.638e-6	32
Auricle malformation	Ovarian agenesis	2	0	DIPK1A (1), RPL5 (1)	0.22222	1.00000	2.362e-7	1.638e-6	240
Auricle malformation	Erythroid hypoplasia	2	0	DIPK1A (1), RPL5 (1)	0.22222	1.00000	2.362e-7	1.638e-6	240
Benign hypercalcemia	Calcium metabolism disorders	2	1	AP2S1 (2), CASR (1)	0.22222	1.00000	2.362e-7	1.638e-6	
Calcium metabolism disorders	Craniometadiaphyseal dysplasia	2	0	ANKH (1), OTULIN (1)	0.22222	1.00000	2.362e-7	1.638e-6	208
Capillary malformation-arteriovenous malformation	Port-wine stain	2	2	GNAQ (3), RASA1 (6)	0.22222	1.00000	2.362e-7	1.638e-6	65
Congenital malformation syndromes predominantly involving limbs	Rubinstein-taybi syndrome	2	0	DLX5 (1), SMOC1 (1)	0.22222	1.00000	2.362e-7	1.638e-6	195
Bowen’s disease	Huntington disease	3	3	NRF1 (2), TFAM (2), PPARGC1A (2)	0.04762	0.75000	2.360e-7	1.638e-6	
Arthritis	Pemphigus	3	2	HLA-DQA1 (2), HLA-DQB1 (2), CD40 (1)	0.09375	0.37500	2.380e-7	1.650e-6	1
Dyslexia	Post-traumatic stress disorder	11	2	FOXP2 (2), MAPT (1), RBFOX1 (1), SEMA3F (1), FAM120A (1), SGCD (1), CD276 (1), INSYN1 (1), SP4 (2), ZDHHC21 (1), KMT2E (1)	0.03618	0.09910	2.389e-7	1.656e-6	
Exudative vitreoretinopathy	Polycystic liver disease	3	3	CTNNB1 (4), LRP6 (2), LRP5 (7)	0.10000	0.33333	2.431e-7	1.684e-6	
Congenital impairment of spermatozoa motility	primary ciliary dyskinesia	3	3	SPEF2 (2), CFAP43 (2), DNAH1 (2)	0.10000	0.33333	2.431e-7	1.684e-6	11
Congenital nonspherocytic hemolytic anemia	Contact dermatitis	4	4	GSS (3), GCLC (3), GSR (3), G6PD (6)	0.04762	0.33333	2.495e-7	1.728e-6	
Cyanosis	Hemoglobin f disease	2	2	HBB (2), HBG2 (4)	0.28571	0.66667	2.530e-7	1.745e-6	18
Carnevale syndrome	Oculopalatosekeletal syndrome	2	2	COLEC11 (2), MASP1 (2)	0.28571	0.66667	2.530e-7	1.745e-6	292
Caudal regression syndrome	Neural tube defects, susceptibility to	2	2	FUZ (4), VANGL1 (4)	0.28571	0.66667	2.530e-7	1.745e-6	109
Chilblain lupus erythematosus	Retinal vasculopathy with cerebral leukodystrophy	2	1	TREX1 (5), ATRIP (1)	0.28571	0.66667	2.530e-7	1.745e-6	159
3mc syndrome	Oculopalatosekeletal syndrome	2	2	COLEC11 (3), MASP1 (3)	0.28571	0.66667	2.530e-7	1.745e-6	292
Bone osteosarcoma	Li-fraumeni syndrome	2	2	CHEK2 (5), TP53 (7)	0.28571	0.66667	2.530e-7	1.745e-6	
Long qt syndrome, digenic	Torsades de pointes	2	2	KCNH2 (2), SCN5A (2)	0.28571	0.66667	2.530e-7	1.745e-6	
Malpuech facial clefting syndrome	Oculopalatosekeletal syndrome	2	1	COLEC11 (1), MASP1 (2)	0.28571	0.66667	2.530e-7	1.745e-6	292
Episodic kinesigenic dyskinesia	Paroxysmal dyskinesia	2	2	PRRT2 (6), KCNA1 (2)	0.28571	0.66667	2.530e-7	1.745e-6	85
Estrogen resistance	Male breast carcinoma	2	2	ESR1 (6), CCDC170 (2)	0.28571	0.66667	2.530e-7	1.745e-6	38
familial sleep-related hypermotor epilepsy	Frontal lobe epilepsy	2	2	CHRNB2 (3), CHRNA4 (3)	0.28571	0.66667	2.530e-7	1.745e-6	423
Paroxysmal familial ventricular fibrillation	Right ventricular cardiomyopathy	2	0	DSP (1), LMNA (1)	0.28571	0.66667	2.530e-7	1.745e-6	
Anhedonia	Hyperkinesia	4	4	DISC1 (2), DRD2 (2), SLC6A3 (2), CRHR1 (2)	0.07143	0.15385	2.528e-7	1.745e-6	
Autoinflammatory syndrome	Cold autoinflammatory syndrome	3	3	NLRP3 (5), NLRP12 (4), NLRC4 (3)	0.07317	0.50000	2.542e-7	1.753e-6	
Auditory neuropathy	Pendred syndrome	3	0	OTOF (1), DIAPH1 (1), MYO7A (1)	0.08333	0.42857	2.572e-7	1.772e-6	157
Central nervous system non-hodgkin lymphoma	Membranous glomerulonephritis	3	2	HLA-DQA1 (2), HLA-DRB1 (2), IRF4 (1)	0.08333	0.42857	2.572e-7	1.772e-6	1
Beta thalassemia	Iron deficiency anemia	3	1	HFE (1), TNF (1), TFRC (2)	0.10345	0.30000	2.607e-7	1.795e-6	
Beta thalassemia	Spherocytosis	3	3	CAD (2), UMPS (2), DHODH (2)	0.10345	0.30000	2.607e-7	1.795e-6	
Rhabdomyosarcoma	Wilms tumor	4	2	ARID1A (1), IGF2 (3), BCOR (1), DICER1 (3)	0.07143	0.14815	2.607e-7	1.795e-6	
inherited retinal dystrophy	Oguchi disease	3	3	PDE6B (2), GNAT1 (2), SLC24A1 (2)	0.11111	0.21429	2.705e-7	1.861e-6	160
Granulomatosis with polyangiitis	Systemic scleroderma	3	3	HLA-DPB1 (3), FCGR3B (2), HLA-DPA1 (3)	0.11111	0.21429	2.705e-7	1.861e-6	
Anophthalmia	Coloboma	3	2	ELP4 (1), PAX6 (4), RAX (3)	0.11111	0.21429	2.705e-7	1.861e-6	
Hereditary spastic paraplegia	Spastic paraplegia, x-linked	3	1	SPAST (1), PLP1 (3), RAB9B (1)	0.02941	1.00000	2.739e-7	1.884e-6	
Aortic arch syndrome	Dermatitis	3	3	HLA-DRB1 (2), HLA-B (2), HLA-A (2)	0.07143	0.50000	2.759e-7	1.896e-6	
Brain neoplasms	Diabetes microvascular complications	3	3	VEGFA (2), PON1 (2), SOD2 (3)	0.07143	0.50000	2.759e-7	1.896e-6	
Blood coagulation disorder	Disseminated intravascular coagulation	3	3	F2 (3), SERPINC1 (2), PROC (3)	0.09677	0.33333	2.778e-7	1.908e-6	36
Cowden disease	Meningioma	3	3	PTEN (6), AKT1 (7), PIK3CA (7)	0.09677	0.33333	2.778e-7	1.908e-6	
Liver failure	Proteinuria	5	5	VEGFA (2), FAS (2), POMC (2), ALB (2), IL1RN (2)	0.05556	0.11905	2.791e-7	1.916e-6	
Azoospermia	Pemphigus vulgaris	3	0	HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (1)	0.08108	0.42857	2.838e-7	1.947e-6	
Congenital structural myopathy	Nemaline myopathy	3	2	ANKRD1 (1), NEB (7), TPM3 (4)	0.10714	0.25000	2.932e-7	2.011e-6	
Dermatitis	Eosinophilia	6	4	EMSY (1), HLA-DQA1 (3), HLA-DRB1 (3), SHARPIN (2), CLEC16A (1), DSG1 (3)	0.04138	0.15789	2.956e-7	2.027e-6	
Aneurysm	Peripheral vascular disease	4	1	CELSR2 (1), DAB2IP (2), LPA (1), PSRC1 (1)	0.07018	0.14815	2.963e-7	2.031e-6	
Basal cell nevus syndrome	Gorlin syndrome	2	2	PTCH1 (4), SUFU (4)	0.28571	0.50000	3.036e-7	2.061e-6	
Bladder cancer	Penile neoplasms	2	2	KRAS (2), HRAS (2)	0.28571	0.50000	3.036e-7	2.061e-6	17
Congenital pain insensitivity	Paroxysmal extreme pain disorder	2	2	SCN11A (2), SCN9A (5)	0.28571	0.50000	3.036e-7	2.061e-6	171
Diabetes insipidus	Neurogenic diabetes insipidus	2	2	AVP (3), AQP2 (5)	0.28571	0.50000	3.036e-7	2.061e-6	
Diabetes insipidus	Nephrogenic diabetes insipidus	2	2	AVP (4), AQP2 (2)	0.28571	0.50000	3.036e-7	2.061e-6	
Dopa-responsive dystonia	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	2	2	GCH1 (4), SPR (6)	0.28571	0.50000	3.036e-7	2.061e-6	
Autoimmune polyendocrine syndrome	Esophageal achalasia	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.28571	0.50000	3.036e-7	2.061e-6	1
Esophageal achalasia	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.28571	0.50000	3.036e-7	2.061e-6	1
Galactokinase deficiency	Weber-cockayne syndrome	2	1	ITGB4 (1), GALK1 (3)	0.28571	0.50000	3.036e-7	2.061e-6	
Very long chain acyl-coa dehydrogenase deficiency	Yorifuji okuno syndrome	2	1	DLG4 (1), ACADVL (6)	0.28571	0.50000	3.036e-7	2.061e-6	106
Homocystinuria with megaloblastic anemia	Neural tube defects, folate-sensitive	2	2	MTRR (4), MTR (2)	0.28571	0.50000	3.036e-7	2.061e-6	155
Idiopathic infantile hypercalcemia	Kidney and ureter calculus	2	2	SLC34A1 (6), CYP24A1 (5)	0.28571	0.50000	3.036e-7	2.061e-6	259
Neurofibromatosis	Neurofibromatosis-noonan syndrome	2	2	NF1 (7), SPRED1 (2)	0.28571	0.50000	3.036e-7	2.061e-6	71
Paroxysmal dystonic choreoathetosis	Paroxysmal nonkinesigenic dyskinesia	2	1	PRRT2 (3), KCNA1 (1)	0.28571	0.50000	3.036e-7	2.061e-6	85
Osteomyelitis	Tongue cancer	2	2	TERT (2), HLA-DQB1 (2)	0.20000	1.00000	3.037e-7	2.061e-6	1
Glucocorticoid deficiency	Primary adrenal insufficiency	2	0	CUX1 (1), MYL10 (1)	0.20000	1.00000	3.037e-7	2.061e-6	
Transcobalamin deficiency	Vitamin deficiency disorder	2	2	TCN2 (7), TCN1 (2)	0.20000	1.00000	3.037e-7	2.061e-6	100
Intracellular cobalamin metabolism disorder	methylmalonic aciduria and homocystinuria	2	2	ZNF143 (2), THAP11 (2)	0.20000	1.00000	3.037e-7	2.061e-6	198
Large cell carcinoma	Small cell carcinoma	2	0	CYP2A6 (1), PYCARD (1)	0.20000	1.00000	3.037e-7	2.061e-6	
Benign neonatal-infantile seizures	Malignant migrating partial seizures of infancy	2	2	KCNQ2 (2), SCN2A (2)	0.20000	1.00000	3.037e-7	2.061e-6	
Juvenile hyperuricemic nephropathy	Tubulointerstitial kidney disease	2	2	REN (5), UMOD (4)	0.20000	1.00000	3.037e-7	2.061e-6	
Arterial occlusive disease	Cholesterol embolism	2	2	PLAU (2), PLAT (2)	0.20000	1.00000	3.037e-7	2.061e-6	29
Arterial occlusive disease	Intracranial embolism and thrombosis	2	2	PLAU (2), PLAT (2)	0.20000	1.00000	3.037e-7	2.061e-6	29
autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Tubulointerstitial kidney disease	2	2	APOA4 (4), UMOD (4)	0.20000	1.00000	3.037e-7	2.061e-6	97
Congenital arteriovenous malformation	Venous malformation	2	1	TEK (3), PIK3CA (1)	0.20000	1.00000	3.037e-7	2.061e-6	
Aniridia	Congenital aniridia	2	2	WT1 (4), PAX6 (4)	0.20000	1.00000	3.037e-7	2.061e-6	
Aniridia	Axenfeld anomaly	2	2	FOXC1 (2), PITX2 (2)	0.20000	1.00000	3.037e-7	2.061e-6	82
Curry-hall syndrome	Ellis-van creveld syndrome	2	2	EVC (7), EVC2 (7)	0.20000	1.00000	3.037e-7	2.061e-6	233
Benign neonatal-infantile seizures	Epilepsy of infancy with migrating focal seizures	2	2	KCNQ2 (3), SCN2A (3)	0.20000	1.00000	3.037e-7	2.061e-6	
Benign recurrent intrahepatic cholestasis	Intrahepatic cholestasis	2	2	ATP8B1 (3), ABCB11 (4)	0.20000	1.00000	3.037e-7	2.061e-6	135
Cardiofacial dysplasia	Ellis-van creveld syndrome	2	2	PRKACB (5), PRKACA (5)	0.20000	1.00000	3.037e-7	2.061e-6	
Iron deficiency anemia	Iron metabolism disorder	3	2	HFE (1), TMPRSS6 (3), TFRC (2)	0.10000	0.30000	3.018e-7	2.061e-6	
Polyarticular juvenile idiopathic arthritis	Scleroderma	4	4	IL2 (2), HLA-DQB1 (2), STAT4 (4), CD247 (3)	0.07018	0.14286	3.037e-7	2.061e-6	
Ciliary dyskinesia, with or without situs inversus	Situs inversus	3	0	DNAH5 (1), DNAH11 (1), DNAAF19 (1)	0.10345	0.27273	3.072e-7	2.083e-6	
Deglutition disorder	Visual disorder	3	3	TSEN2 (2), TSEN54 (2), TSEN34 (2)	0.10345	0.27273	3.072e-7	2.083e-6	
Autoimmune lymphoproliferative disorder	Splenomegaly	3	3	FAS (6), KRAS (2), NRAS (3)	0.10345	0.27273	3.072e-7	2.083e-6	17
Familial temporal lobe epilepsy	Temporal lobe epilepsy	3	3	CPA6 (5), RELN (4), GAL (4)	0.07895	0.42857	3.121e-7	2.115e-6	209
Hirschsprung disease	Waardenburg-shah syndrome	3	3	EDNRB (6), EDN3 (6), SOX10 (3)	0.04348	0.75000	3.140e-7	2.128e-6	
Henoch schoenlein purpura	Narcolepsy	4	3	HLA-DQA1 (2), HLA-DQB3 (1), HLA-DRB1 (4), HLA-DQB1 (4)	0.06061	0.22222	3.156e-7	2.138e-6	1
Chorioretinopathy with microcephaly	Microcephaly	3	3	TUBGCP6 (6), PLK4 (6), TUBGCP4 (6)	0.02804	1.00000	3.171e-7	2.148e-6	
Avascular necrosis of bone	Hemophilia a	3	0	F2 (1), PLAT (1), TFPI (1)	0.10714	0.21429	3.327e-7	2.252e-6	
Cartilage disease	Lymphedema	3	1	GATA2 (3), HLA-DQA1 (1), HLA-DRB1 (1)	0.10714	0.21429	3.327e-7	2.252e-6	1
Clear cell renal cell carcinoma	Toxic nodular goiter	4	0	TERT (1), INSR (1), SLK (1), STN1 (1)	0.05797	0.23529	3.349e-7	2.266e-6	
Pancreatic neoplasms	Testicular germ cell tumor	7	4	HNF1B (2), TERT (2), STK11 (2), MMP2 (1), ALOX5 (1), SUGCT (2), ALOX12B (1)	0.04094	0.11667	3.379e-7	2.286e-6	
Brain disease	Cognition disorder	5	5	APP (2), CDK5R1 (2), SLC1A1 (2), TSC1 (2), OTC (2)	0.05435	0.11905	3.383e-7	2.287e-6	366
Hypotension	Panic disorder	5	5	INS (2), CRH (2), MAOA (2), ADORA2A (2), ADRA2A (2)	0.05155	0.14706	3.382e-7	2.287e-6	
Kidney cancer	Lipoma	4	0	TERT (1), EXO1 (1), STN1 (1), ACTRT3 (1)	0.04444	0.33333	3.406e-7	2.302e-6	
Craniosynostosis	Loeys-dietz syndrome	4	2	FBN1 (1), FBN2 (1), TGFBR1 (6), SMAD6 (4)	0.05556	0.25000	3.418e-7	2.309e-6	
Night blindness, congenital stationary	Retinal degeneration	4	4	PDE6B (3), RHO (3), GNAT1 (4), RPGR (2)	0.06780	0.16000	3.442e-7	2.325e-6	
Myasthenia gravis	Oropharyngeal cancer	5	4	HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2), CTLA4 (1), HLA-B (2)	0.05319	0.13158	3.447e-7	2.327e-6	
Eosinophilia	Nasal polyp	6	4	HLA-DQA1 (3), HLA-DRB1 (3), CLEC16A (1), GATA3 (3), TSLP (3), WDR36 (1)	0.04110	0.15385	3.472e-7	2.344e-6	103
Gastrointestinal stromal tumor	Medulloblastoma	5	4	SMO (2), PTCH1 (1), PDGFRA (4), SUFU (5), PTCH2 (3)	0.05435	0.10638	3.671e-7	2.477e-6	
Nonmedullary thyroid cancer	Thyroid cancer	3	3	FOXE1 (4), HABP2 (3), MINPP1 (2)	0.07500	0.42857	3.742e-7	2.524e-6	
Ciliopathy	Congenital cystic kidney disease	3	3	TMEM231 (3), B9D1 (3), TXNDC15 (3)	0.04110	0.75000	3.746e-7	2.526e-6	8
Bouillaud’s disease	Cold paroxysmal hemoglobinuria	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.25000	0.66667	3.795e-7	2.527e-6	
Bouillaud’s disease	Cervical intraepithelial neoplasia	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.25000	0.66667	3.795e-7	2.527e-6	1
Bouillaud’s disease	Diabetic nephropathy type 1	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.25000	0.66667	3.795e-7	2.527e-6	1
Congenital hyperinsulinism	Dend syndrome	2	2	ABCC8 (3), KCNJ11 (5)	0.25000	0.66667	3.795e-7	2.527e-6	
Congenital insensitivity to pain	Episodic pain syndrome	2	2	SCN10A (5), SCN11A (4)	0.25000	0.66667	3.795e-7	2.527e-6	171
Bouillaud’s disease	Cryoglobulinemia	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.25000	0.66667	3.795e-7	2.527e-6	1
Cryoglobulinemia	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.25000	0.66667	3.795e-7	2.527e-6	1
Cryoglobulinemia	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.25000	0.66667	3.795e-7	2.527e-6	1
Benign adult familial myoclonic epilepsy	Benign myoclonic epilepsy	2	2	ADRA2B (2), SAMD12 (3)	0.25000	0.66667	3.795e-7	2.527e-6	284
Bruxism	Cyclin-dependent kinase-like 5 deficiency	2	0	CDKL5 (1), MECP2 (1)	0.25000	0.66667	3.795e-7	2.527e-6	55
Bulbar palsy	Cyclin-dependent kinase-like 5 deficiency	2	0	CACNA1A (1), MECP2 (1)	0.25000	0.66667	3.795e-7	2.527e-6	55
Cadasil	Retinal vasculopathy with cerebral leukodystrophy	2	1	TREX1 (3), ATRIP (1)	0.25000	0.66667	3.795e-7	2.527e-6	159
Cadasil	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	2	2	NOTCH3 (6), HTRA1 (6)	0.25000	0.66667	3.795e-7	2.527e-6	
Familial polycythemia	Thrombocythemia	2	2	SH2B3 (3), JAK2 (4)	0.25000	0.66667	3.795e-7	2.527e-6	
Familial polycythemia	Thrombocytosis	2	2	SH2B3 (3), JAK2 (4)	0.25000	0.66667	3.795e-7	2.527e-6	
Hypocalcemia	Hypocalciuric hypercalcemia	2	2	GNA11 (7), CASR (7)	0.25000	0.66667	3.795e-7	2.527e-6	
Hypocalcemic vitamin d-dependent rickets	Rickets	2	2	VDR (3), CYP27B1 (3)	0.25000	0.66667	3.795e-7	2.527e-6	342
Bouillaud’s disease	Paroxysmal nocturnal hemoglobinuria	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.25000	0.66667	3.795e-7	2.527e-6	
Pelizaeus-merzbacher disease	Spastic paraplegia, x-linked	2	1	PLP1 (8), RAB9B (1)	0.25000	0.66667	3.795e-7	2.527e-6	434
Polycythemia, primary familial and congenital	Thrombocythemia	2	2	SH2B3 (4), JAK2 (5)	0.25000	0.66667	3.795e-7	2.527e-6	
Polycythemia, primary familial and congenital	Thrombocytosis	2	2	SH2B3 (2), JAK2 (3)	0.25000	0.66667	3.795e-7	2.527e-6	
Bouillaud’s disease	Hemoglobinuria paroxysmal	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.25000	0.66667	3.795e-7	2.527e-6	
Head and neck cancer	Tongue cancer	2	0	TERT (1), HLA-DQB1 (1)	0.18182	1.00000	3.796e-7	2.527e-6	1
Hypoplastic anemia	Spherocytosis	2	0	CAD (1), UMPS (1)	0.18182	1.00000	3.796e-7	2.527e-6	
Tongue cancer	Tongue neoplasms	2	0	TERT (1), HLA-DQB1 (1)	0.18182	1.00000	3.796e-7	2.527e-6	
Annular epidermolytic ichthyosis	Keratosis	2	2	KRT1 (4), KRT10 (4)	0.18182	1.00000	3.796e-7	2.527e-6	187
Epidermolytic ichthyosis	Keratosis	2	2	KRT1 (4), KRT10 (5)	0.18182	1.00000	3.796e-7	2.527e-6	187
Congenital reticular ichthyosiform erythroderma	Keratosis	2	2	KRT1 (4), KRT10 (5)	0.18182	1.00000	3.796e-7	2.527e-6	187
Epidermolytic hyperkeratosis	Keratosis	2	2	KRT1 (4), KRT10 (5)	0.18182	1.00000	3.796e-7	2.527e-6	187
Leiomyoma	X-linked diffuse leiomyomatosis with alport syndrome	2	2	COL4A5 (2), COL4A6 (2)	0.18182	1.00000	3.796e-7	2.527e-6	91
Cataract-intellectual disability-hypogonadism syndrome	Martsolf syndrome	2	2	RAB3GAP1 (5), RAB3GAP2 (7)	0.18182	1.00000	3.796e-7	2.527e-6	90
Endometrial hyperplasia	Vulvar lichen sclerosus	2	2	TP53 (2), CDKN2A (2)	0.18182	1.00000	3.796e-7	2.527e-6	45
Congenital erythropoietic porphyria	Porphyria	2	2	GATA1 (2), UROS (4)	0.18182	1.00000	3.796e-7	2.527e-6	132
Cutaneous porphyria	Porphyria	2	2	GATA1 (2), UROS (6)	0.18182	1.00000	3.796e-7	2.527e-6	132
Combined cellular and humoral immune defects with granulomas	Omenn syndrome	2	2	RAG1 (5), RAG2 (5)	0.18182	1.00000	3.796e-7	2.527e-6	176
Combined immunodeficiency with skin granulomas	Omenn syndrome	2	2	RAG1 (5), RAG2 (5)	0.18182	1.00000	3.796e-7	2.527e-6	176
Brain edema	Cholesterol embolism	2	2	PLAU (2), PLAT (2)	0.18182	1.00000	3.796e-7	2.527e-6	29
Brain edema	Intracranial embolism and thrombosis	2	2	PLAU (2), PLAT (2)	0.18182	1.00000	3.796e-7	2.527e-6	29
Congenital hypoplastic anemia	Spherocytosis	2	2	CAD (2), UMPS (2)	0.18182	1.00000	3.796e-7	2.527e-6	
Cowchock syndrome	Deafness, x-linked	2	1	AIFM1 (4), RAB33A (1)	0.18182	1.00000	3.796e-7	2.527e-6	
Deafness, x-linked	Senter syndrome	2	2	GJB6 (2), GJB2 (2)	0.18182	1.00000	3.796e-7	2.527e-6	68
Brain disease	Tuberous sclerosis complex	3	3	IFNG (4), TSC2 (7), TSC1 (7)	0.06522	0.50000	3.753e-7	2.527e-6	
Amnesia	Pruritus	3	3	GRP (2), PDYN (2), TAC1 (2)	0.10345	0.23077	3.808e-7	2.533e-6	
Anorexia	Congestive ophthalmopathy	3	3	IL2 (2), TNF (2), IL1RN (2)	0.10345	0.23077	3.808e-7	2.533e-6	153
Anorexia	Myopathic ophthalmopathy	3	3	IL2 (2), TNF (2), IL1RN (2)	0.10345	0.23077	3.808e-7	2.533e-6	153
Non-small cell lung carcinoma	Small cell lung carcinoma	8	2	ALDH1A2 (1), EGFR (3), GRIK3 (2), HLA-DQA1 (1), HLA-DRB1 (1), CHRNA5 (1), BRCA2 (1), BAG6 (1)	0.04020	0.08791	3.843e-7	2.555e-6	
Hyperopia	Myopia	8	8	IRX5 (3), CHD7 (2), KCNQ5 (3), PRSS56 (3), LAMA2 (3), RASGRF1 (3), GJD2 (3), RDH5 (3)	0.03902	0.10127	3.908e-7	2.598e-6	262
Hyperuricemia	Urolithiasis	6	1	VEGFA (1), WDR72 (1), GCKR (1), ABCG2 (5), BCAS1 (1), HCRTR2 (1)	0.04688	0.09375	3.964e-7	2.634e-6	180
Conotruncal cardiac defect	Tetralogy of fallot	7	7	TBX1 (6), ZFPM2 (7), NKX2-6 (6), NKX2-5 (7), GATA6 (6), GDF1 (3), FOXH1 (2)	0.04094	0.11111	3.979e-7	2.644e-6	41
Sezary syndrome	Small cell carcinoma	3	0	TP53 (1), SMARCA4 (1), RB1 (1)	0.08824	0.33333	4.011e-7	2.663e-6	
primary ciliary dyskinesia	Teratozoospermia	3	3	DNAH10 (2), CFAP43 (2), DNAH1 (2)	0.08824	0.33333	4.011e-7	2.663e-6	11
Brain disease	Delirium, dementia, and cognitive disorders	5	5	APP (2), CDK5R1 (2), SLC1A1 (2), TSC1 (2), OTC (2)	0.05319	0.11905	4.069e-7	2.701e-6	366
Auditory neuropathy	Congenital ear anomaly	4	0	OTOF (1), AIFM1 (1), MYO7A (1), RAB33A (1)	0.06780	0.12903	4.071e-7	2.702e-6	
Membranous glomerulonephritis	Pemphigus	3	3	HLA-DQA1 (2), HLA-DRB1 (2), C3 (2)	0.08108	0.37500	4.110e-7	2.726e-6	1
Heterotaxy syndrome	Transposition of the great arteries	3	2	CFC1 (5), CERS1 (1), GDF1 (2)	0.09677	0.27273	4.146e-7	2.750e-6	
Carotid artery disease	Giant cell arteritis	4	1	TLR4 (1), MMP9 (1), CCL2 (2), MMP2 (1)	0.05714	0.22222	4.295e-7	2.847e-6	
Ciliary dyskinesia	Teratozoospermia	5	5	HYDIN (7), DNAH10 (3), CFAP43 (2), DNAH1 (6), TTC12 (6)	0.04425	0.18519	4.447e-7	2.948e-6	
Keratoconus	Thoracic aortic aneurysm and aortic dissection	6	4	COL5A1 (2), PLOD1 (1), SMAD3 (6), COL1A1 (2), LOX (6), COL5A2 (1)	0.04082	0.14634	4.485e-7	2.971e-6	50
Lymphoid leukemia	Osteomyelitis	3	3	TERT (2), HLA-DQB1 (2), MYNN (2)	0.08571	0.33333	4.490e-7	2.974e-6	
Mitral valve prolapse	Wolff-parkinson-white syndrome	5	2	COL5A1 (1), RBM20 (2), TBX5 (2), FLNA (1), TTN (1)	0.05319	0.10638	4.502e-7	2.981e-6	
Hypercalcemia	Hyperparathyroidism	3	3	IL6 (2), PTH (2), CASR (3)	0.10000	0.23077	4.520e-7	2.991e-6	
Neuropathy	Optic neuritis	3	0	ATP7B (1), EFEMP1 (1), PNPT1 (1)	0.10000	0.23077	4.520e-7	2.991e-6	
Ovarian agenesis	Testicular hydrocele	2	0	DIPK1A (1), RPL5 (1)	0.16667	1.00000	4.640e-7	3.058e-6	240
Glanzmann thrombasthenia	Macrothrombocytopenia	2	2	ITGB3 (8), ITGA2B (8)	0.16667	1.00000	4.640e-7	3.058e-6	67
Macrothrombocytopenia	platelet-type bleeding disorder 16	2	2	ITGB3 (3), ITGA2B (3)	0.16667	1.00000	4.640e-7	3.058e-6	67
Transcobalamin deficiency	Vitamin b12 deficiency	2	2	TCN2 (7), TCN1 (2)	0.16667	1.00000	4.640e-7	3.058e-6	100
Combined saposin deficiency	Retinitis pigmentosa-deafness syndrome	2	1	PSAP (3), CDH23 (1)	0.16667	1.00000	4.640e-7	3.058e-6	
Erythroid hypoplasia	Testicular hydrocele	2	0	DIPK1A (1), RPL5 (1)	0.16667	1.00000	4.640e-7	3.058e-6	240
Atelis syndrome	Mosaic variegated aneuploidy	2	2	SLF2 (4), SMC5 (4)	0.16667	1.00000	4.640e-7	3.058e-6	
Benign epithelial tumor of salivary glands	Silver-russell syndrome	2	2	HMGA2 (6), PLAG1 (5)	0.16667	1.00000	4.640e-7	3.058e-6	
Cantu syndrome	Hypertrichosis	2	2	ABCC9 (7), KCNJ8 (3)	0.16667	1.00000	4.640e-7	3.058e-6	234
Congenital neck anomaly	Deglutition disorder	2	0	RIF1 (1), NEB (1)	0.16667	1.00000	4.640e-7	3.058e-6	333
Cushing's disease	Pituitary adenoma	2	2	AIP (3), CDH23 (2)	0.16667	1.00000	4.640e-7	3.058e-6	
Anaplasia	Ductal carcinoma	2	0	CA9 (1), HIF1A (1)	0.16667	1.00000	4.640e-7	3.058e-6	99
Congenital malformation syndromes associated with short stature	Non-immune hydrops fetalis	3	0	PTPN11 (1), LZTR1 (1), RIT1 (1)	0.06122	0.50000	4.636e-7	3.058e-6	49
Clonal hematopoiesis	Kidney cancer	6	0	RTEL1 (1), TERT (1), TTC28 (1), ITPR2 (1), ATM (1), STN1 (1)	0.04545	0.10714	4.623e-7	3.058e-6	
Polyarticular juvenile idiopathic arthritis	Selective iga deficiency disease	4	1	FAS (1), IL2 (1), IL21 (1), PTPN2 (3)	0.06667	0.12903	4.646e-7	3.061e-6	
Sezary syndrome	Small cell lung carcinoma	5	2	PTEN (1), TP53 (2), SMARCA4 (1), CREBBP (1), RB1 (4)	0.04386	0.18519	4.700e-7	3.096e-6	214
Ataxia	Idiopathic generalized epilepsy	3	3	GABRA1 (3), CACNB4 (2), SLC2A1 (2)	0.09677	0.25000	4.772e-7	3.141e-6	227
Autoimmune musculoskeletal system disorder	Crest syndrome	3	1	HLA-DRB1 (2), STAT4 (1), TNPO3 (1)	0.09677	0.25000	4.772e-7	3.141e-6	
Granulomatosis with polyangiitis	Graves ophthalmopathy	3	2	IL10 (1), CTLA4 (2), PTPN22 (2)	0.10000	0.21429	4.843e-7	3.187e-6	153
Lymphoma	Myelodysplastic syndrome	5	0	CDKN2B (1), IRF4 (1), KRAS (1), CFLAR (1), EZH2 (1)	0.05263	0.10870	4.905e-7	3.227e-6	
Retinal detachment	Retinitis punctata albescens	3	2	EYS (1), RDH5 (3), RHO (2)	0.06000	0.50000	4.959e-7	3.261e-6	
Hemangiosarcoma	Osteosarcoma	4	1	TP53 (2), VEGFA (1), JUN (1), MYC (1)	0.05556	0.22222	4.967e-7	3.265e-6	4
Henoch schoenlein purpura	Pancreatitis	4	2	HLA-DQA1 (3), HLA-DRB1 (3), CCL2 (1), IL1RN (1)	0.05556	0.22222	4.967e-7	3.265e-6	
Paroxysmal dyskinesia	Paroxysmal nonkinesigenic dyskinesia	2	2	PRRT2 (3), KCNA1 (2)	0.25000	0.50000	5.060e-7	3.316e-6	85
Intestinal pseudo-obstruction	Visceral myopathy	2	2	MYH11 (4), ACTG2 (6)	0.25000	0.50000	5.060e-7	3.316e-6	426
Dysfibrinogenemia	Hyper-immunoglobulin m syndrome	2	0	CD40LG (1), UNG (1)	0.25000	0.50000	5.060e-7	3.316e-6	
Congenital short qt syndrome	Paroxysmal atrial fibrillation	2	2	KCNQ1 (2), CACNA2D1 (2)	0.25000	0.50000	5.060e-7	3.316e-6	
Craniofacial ulnar renal syndrome	Oculopalatosekeletal syndrome	2	2	COLEC11 (2), MASP1 (2)	0.25000	0.50000	5.060e-7	3.316e-6	292
Cleft eyelid	Commissural facial cleft	2	2	PAX6 (2), SALL2 (4)	0.25000	0.50000	5.060e-7	3.316e-6	25
Cyanosis	Delta-beta thalassemia	2	2	HBB (4), HBG2 (4)	0.25000	0.50000	5.060e-7	3.316e-6	18
Delta-beta thalassemia	Hemoglobin e disease	2	2	HBB (3), HBD (4)	0.25000	0.50000	5.060e-7	3.316e-6	18
Delta-beta thalassemia	Thalassemia	2	2	HBB (3), HBD (3)	0.25000	0.50000	5.060e-7	3.316e-6	
Bestrophinopathy	Vitelliform macular dystrophy	2	2	BEST1 (7), PRPH2 (3)	0.25000	0.50000	5.060e-7	3.316e-6	
Aortic stenosis	Heart valve disease	5	0	FADS1 (1), FADS2 (1), MECOM (1), CELSR2 (1), LPA (1)	0.05155	0.12195	5.100e-7	3.341e-6	
Acromesomelic dysplasia	Geleophysic dysplasia	2	2	FBN1 (6), LTBP3 (6)	0.22222	0.66667	5.313e-7	3.455e-6	28
Bouillaud’s disease	Central nervous system non-hodgkin lymphoma	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.22222	0.66667	5.313e-7	3.455e-6	1
Central nervous system non-hodgkin lymphoma	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.22222	0.66667	5.313e-7	3.455e-6	1
Central nervous system non-hodgkin lymphoma	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.22222	0.66667	5.313e-7	3.455e-6	1
Acute disseminated encephalomyelitis	Central nervous system non-hodgkin lymphoma	2	2	HLA-DRB1 (2), HLA-DRB5 (2)	0.22222	0.66667	5.313e-7	3.455e-6	1
Chromosome 3p25 monosomy	Tubular aggregate myopathy	2	2	OXTR (2), CAV3 (2)	0.22222	0.66667	5.313e-7	3.455e-6	349
Diencephalic mesencephalic junction dysplasia	Exudative retinopathy	2	1	PCDH12 (5), RNF14 (1)	0.22222	0.66667	5.313e-7	3.455e-6	
Distal muscular dystrophy	Multiminicore myopathy	2	2	MYH7 (2), TTN (2)	0.22222	0.66667	5.313e-7	3.455e-6	
Ataxia with vitamin e deficiency	Hypoalphalipoproteinemia	2	2	APOA1 (5), APOB (3)	0.22222	0.66667	5.313e-7	3.455e-6	293
Ferroxidase deficiency	Iron overload	2	2	CP (3), SLC40A1 (2)	0.22222	0.66667	5.313e-7	3.455e-6	188
Capillary malformation	Klippel-trenaunay syndrome	2	1	GNAQ (1), PIK3CA (2)	0.22222	0.66667	5.313e-7	3.455e-6	65
Nonmedullary thyroid cancer	Schimmelpenning-feuerstein-mims syndrome	2	2	NRAS (2), HRAS (2)	0.22222	0.66667	5.313e-7	3.455e-6	17
Klippel-trenaunay syndrome	Parkes weber syndrome	2	1	RASA1 (4), CCNH (1)	0.22222	0.66667	5.313e-7	3.455e-6	65
Gallbladder disease	Sitosterolemia	2	2	ABCG8 (7), ABCG5 (7)	0.22222	0.66667	5.313e-7	3.455e-6	
Hematoma	Intracranial vasospasm	2	2	S100B (2), PLAT (2)	0.22222	0.66667	5.313e-7	3.455e-6	
Hemimegalencephaly	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	2	2	AKT3 (3), MTOR (3)	0.22222	0.66667	5.313e-7	3.455e-6	
Hereditary hemorrhagic telangiectasia	Parkes weber syndrome	2	1	RASA1 (4), CCNH (1)	0.22222	0.66667	5.313e-7	3.455e-6	65
Epidermal nevus	Seminoma	2	2	FGFR3 (3), HRAS (3)	0.22222	0.66667	5.313e-7	3.455e-6	17
Follicular thyroid cancer	Schimmelpenning-feuerstein-mims syndrome	2	2	NRAS (2), HRAS (2)	0.22222	0.66667	5.313e-7	3.455e-6	17
Rippling muscle disease	Tubular aggregate myopathy	2	1	OXTR (1), CAV3 (6)	0.22222	0.66667	5.313e-7	3.455e-6	349
Nausea	Orthostatic hypotension	2	2	OPRM1 (2), ABCB1 (2)	0.22222	0.66667	5.313e-7	3.455e-6	
Bouillaud’s disease	Vogt-koyanagi-harada disease	2	2	HLA-DQA1 (2), HLA-DRB1 (3)	0.22222	0.66667	5.313e-7	3.455e-6	1
Skeletal system disease	Vogt-koyanagi-harada disease	2	1	HLA-DQA1 (1), HLA-DRB1 (2)	0.22222	0.66667	5.313e-7	3.455e-6	1
Vogt-koyanagi-harada disease	Wheat allergic reaction	2	1	HLA-DQA1 (1), HLA-DRB1 (2)	0.22222	0.66667	5.313e-7	3.455e-6	1
Brain neoplasms	Rhabdomyosarcoma	4	1	VEGFA (1), YAP1 (1), PTCH1 (1), HRAS (2)	0.06452	0.14815	5.312e-7	3.455e-6	
Hematuria	Hemorrhage	3	3	PLAU (2), POMC (2), F7 (2)	0.09091	0.27273	5.445e-7	3.540e-6	
B-cell chronic lymphocytic leukemia	Lymphocytic b-cell leukemia	3	3	TP53 (2), ATM (2), P2RX7 (2)	0.07500	0.37500	5.467e-7	3.553e-6	
Nasopharyngeal carcinoma	Papilloma	3	0	SOD2 (1), ERBB2 (1), CCND1 (1)	0.09375	0.25000	5.523e-7	3.587e-6	
Febrile convulsion	Lennox-gastaut syndrome	3	2	GABRG2 (5), SCN1A (3), SCN2A (1)	0.09375	0.25000	5.523e-7	3.587e-6	228
Cholesterol embolism	Thromboembolism	2	2	PLAU (2), PLAT (2)	0.15385	1.00000	5.568e-7	3.597e-6	
Megaloblastic anemia	Transcobalamin deficiency	2	2	TCN2 (7), TCN1 (3)	0.15385	1.00000	5.568e-7	3.597e-6	100
Transcobalamin deficiency	Vitamin b deficiency	2	2	TCN2 (7), TCN1 (2)	0.15385	1.00000	5.568e-7	3.597e-6	100
Microphthalmia with retinitis pigmentosa and ocular anomalies	Nanophthalmos	2	1	MFRP (6), C1QTNF5 (1)	0.15385	1.00000	5.568e-7	3.597e-6	52
Congenital short bowel syndrome	Intestinal obstruction	2	2	FLNA (4), CLMP (5)	0.15385	1.00000	5.568e-7	3.597e-6	42
Periventricular nodular heterotopia	Van maldergem syndrome	2	2	FAT4 (5), DCHS1 (6)	0.15385	1.00000	5.568e-7	3.597e-6	
Camos syndrome	Galloway-mowat syndrome	2	2	ZNF592 (2), WDR73 (8)	0.15385	1.00000	5.568e-7	3.597e-6	20
Congenital hereditary endothelial dystrophy	Hereditary corneal dystrophy	2	2	OVOL2 (2), SLC4A11 (4)	0.15385	1.00000	5.568e-7	3.597e-6	87
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Congenital nonspherocytic hemolytic anemia	2	2	G6PD (6), IKBKG (2)	0.15385	1.00000	5.568e-7	3.597e-6	12
Autoinflammatory disease, systemic, x-linked	Congenital nonspherocytic hemolytic anemia	2	2	G6PD (6), IKBKG (3)	0.15385	1.00000	5.568e-7	3.597e-6	12
Bloch sulzberger syndrome	Congenital nonspherocytic hemolytic anemia	2	1	G6PD (6), IKBKG (1)	0.15385	1.00000	5.568e-7	3.597e-6	12
Congenital structural myopathy	X-linked centronuclear myopathy	2	1	MTM1 (2), DNM2 (1)	0.15385	1.00000	5.568e-7	3.597e-6	
Curry-hall syndrome	Majewski syndrome	2	2	EVC (2), EVC2 (2)	0.15385	1.00000	5.568e-7	3.597e-6	
Cerebrofacioarticular syndrome	Periventricular nodular heterotopia	2	2	FAT4 (3), DCHS1 (3)	0.15385	1.00000	5.568e-7	3.597e-6	
Atrioventricular septal defect	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	2	2	GATA4 (6), GATA6 (6)	0.15385	1.00000	5.568e-7	3.597e-6	106
Atrioventricular septal defect	Partial atrioventricular canal defect	2	2	GATA4 (5), CRELD1 (6)	0.15385	1.00000	5.568e-7	3.597e-6	106
Coenzyme q10 deficiency	Primary coenzyme q10 deficiency	2	2	COQ6 (5), COQ7 (5)	0.15385	1.00000	5.568e-7	3.597e-6	399
Retinal degeneration	Stargardt disease	4	4	CRX (2), RPE65 (2), RHO (2), RDH12 (2)	0.06452	0.14286	5.542e-7	3.597e-6	7
Distal muscular dystrophy	Neuromuscular disease	3	0	LDB3 (1), MYH7 (1), TTN (1)	0.06667	0.42857	5.643e-7	3.645e-6	
Delirium	Hepatolenticular degeneration	3	3	APOE (3), IL6 (2), CXCL8 (2)	0.08571	0.30000	5.723e-7	3.694e-6	
Endometrial hyperplasia	Sezary syndrome	3	3	PTEN (2), TP53 (2), CDKN2A (2)	0.08571	0.30000	5.723e-7	3.694e-6	
Cerebral hemorrhage	Learning disorders	4	4	APP (2), VEGFA (2), BCL2 (2), HMOX1 (2)	0.06452	0.13793	5.732e-7	3.698e-6	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Macrogyria	4	0	CASK (1), SEPSECS (1), KIAA0586 (1), TUBA1A (1)	0.06452	0.13793	5.732e-7	3.698e-6	124
Kidney neoplasms	Mouth neoplasms	5	0	ATP7B (1), SOD2 (1), PTGS2 (1), NDRG1 (1), TSC2 (1)	0.05051	0.12500	5.748e-7	3.707e-6	
Contact dermatitis	Lung disease	7	7	VEGFA (2), GSTP1 (2), CCN2 (2), IL18 (2), DEFB1 (2), NQO1 (2), MMP8 (2)	0.04118	0.09333	5.834e-7	3.761e-6	
Melas syndrome	Mitochondrial myopathy	3	3	IL1A (2), IL1B (2), CYTB (2)	0.09677	0.20000	6.050e-7	3.899e-6	26
Hypohidrotic ectodermal dysplasia	Tooth agenesis	3	3	LRP6 (6), WNT10A (7), EDARADD (3)	0.06522	0.42857	6.088e-7	3.923e-6	76
Dermatomyositis	Irritant dermatitis	3	3	C2 (2), HLA-DPB1 (3), HLA-DPA1 (3)	0.07895	0.33333	6.156e-7	3.966e-6	22
Charcot-marie-tooth disease	Navajo neurohepatopathy	3	1	UCN (1), MPV17 (6), TRIM54 (1)	0.02256	1.00000	6.159e-7	3.966e-6	
Brain neoplasms	Diabetic angiopathies	4	4	VEGFA (2), PON1 (2), SOD2 (2), RELA (2)	0.06349	0.14286	6.187e-7	3.983e-6	
Congenital fibrosis of extraocular muscles	Cortical dysplasia with other brain malformations	3	3	TUBB (3), TUBB3 (5), TUBB2B (5)	0.09677	0.18750	6.204e-7	3.993e-6	144
Aplasia of the vermis	Dandy-walker syndrome	4	0	HYLS1 (1), PIBF1 (1), CSPP1 (1), ARMC9 (1)	0.05634	0.20000	6.277e-7	4.039e-6	8
Fuchs endothelial dystrophy	Hereditary corneal dystrophy	3	3	COL8A2 (3), ZEB1 (3), SLC4A11 (3)	0.09091	0.25000	6.349e-7	4.084e-6	87
Sickle cell anemia	Spherocytosis	3	3	CAD (2), UMPS (2), DHODH (2)	0.08333	0.30000	6.407e-7	4.120e-6	
Clonal hematopoiesis	Myelodysplastic syndrome	5	3	GATA2 (4), RUNX1 (2), TERT (1), JAK2 (1), DLK1 (2)	0.05102	0.10870	6.485e-7	4.169e-6	98
Branchiootic syndrome	Congenital abnormalities	2	2	EYA1 (6), SIX1 (6)	0.14286	1.00000	6.580e-7	4.214e-6	134
Congenital cardiomyopathy	Neuropathy, ataxia, and retinitis pigmentosa	2	0	ND5 (1), ND4 (1)	0.14286	1.00000	6.580e-7	4.214e-6	26
Benign recurrent intrahepatic cholestasis	Progressive intrahepatic cholestasis	2	2	ATP8B1 (4), ABCB11 (4)	0.14286	1.00000	6.580e-7	4.214e-6	135
Deafness, sensorineural, autosomal-mitochondrial type	Neuropathy, ataxia, and retinitis pigmentosa	2	1	ND1 (1), COX1 (2)	0.14286	1.00000	6.580e-7	4.214e-6	
Optic neuritis	Visual system disorder	2	0	EFEMP1 (1), PNPT1 (1)	0.14286	1.00000	6.580e-7	4.214e-6	
Deafness enamel hypoplasia nail defects	Zellweger spectrum disorder	2	2	PEX6 (3), PEX1 (3)	0.14286	1.00000	6.580e-7	4.214e-6	141
Deafness-enamel hypoplasia-nail defects syndrome	Zellweger spectrum disorder	2	2	PEX6 (2), PEX1 (2)	0.14286	1.00000	6.580e-7	4.214e-6	141
Amegakaryocytic thrombocytopenia	Essential thrombocythemia	2	2	MPL (3), THPO (3)	0.14286	1.00000	6.580e-7	4.214e-6	98
Congenital amegakaryocytic thrombocytopenia	Essential thrombocythemia	2	2	MPL (6), THPO (5)	0.14286	1.00000	6.580e-7	4.214e-6	98
Nephrotic syndrome, steroid-resistant, autosomal recessive	Steroid-resistant nephrotic syndrome	2	0	AXDND1 (1), NPHS2 (1)	0.14286	1.00000	6.580e-7	4.214e-6	20
Cholesterol embolism	Intracranial hemorrhage	2	2	PLAU (2), PLAT (2)	0.14286	1.00000	6.580e-7	4.214e-6	29
Intracranial embolism and thrombosis	Intracranial hemorrhage	2	2	PLAU (2), PLAT (2)	0.14286	1.00000	6.580e-7	4.214e-6	29
Kidney neoplasms	Sezary syndrome	4	0	BRAF (1), MAPK1 (1), CDKN1B (1), IL32 (1)	0.06250	0.14815	6.561e-7	4.214e-6	214
Nephrosclerosis	Oral submucous fibrosis	3	3	TGFB1 (2), COL1A1 (2), FGF2 (2)	0.09375	0.21429	6.759e-7	4.328e-6	
Gastric ulcer	Sleep apnea	5	0	NOS3 (1), TNF (1), NRG1 (1), ABO (1), MMP9 (1)	0.05102	0.10204	6.770e-7	4.333e-6	
Cardiovascular abnormalities	Urethral obstruction	3	3	AGT (2), NOS2 (2), EDN1 (2)	0.08571	0.27273	6.989e-7	4.472e-6	
Chromosome y microdeletion syndrome	Male infertility y chromosome microdeletion	2	2	TSPY1 (2), USP9Y (2)	0.20000	0.66667	7.084e-7	4.510e-6	
Adult myoclonic epilepsy	Benign adult familial myoclonic epilepsy	2	2	ADRA2B (2), SAMD12 (2)	0.20000	0.66667	7.084e-7	4.510e-6	284
Aicardi goutieres syndrome	Chilblain lupus	2	2	SAMHD1 (4), TREX1 (3)	0.20000	0.66667	7.084e-7	4.510e-6	
Angiokeratoma	Cavernous malformations of cns	2	0	ANKIB1 (1), KRIT1 (1)	0.20000	0.66667	7.084e-7	4.510e-6	249
Double outlet right ventricle	Right atrial isomerism	2	1	CERS1 (1), GDF1 (4)	0.20000	0.66667	7.084e-7	4.510e-6	56
Bile duct cancer	Liver cancer	2	0	MAPK1 (1), YPEL1 (1)	0.20000	0.66667	7.084e-7	4.510e-6	
C3 glomerulonephritis	Thrombotic microangiopathy	2	2	CFI (3), CFH (3)	0.20000	0.66667	7.084e-7	4.510e-6	32
atypical hemolytic-uremic syndrome	C3 glomerulonephritis	2	2	CFI (3), CFH (3)	0.20000	0.66667	7.084e-7	4.510e-6	32
Calcium metabolism disorders	Chondrocalcinosis	2	1	ANKH (5), OTULIN (1)	0.20000	0.66667	7.084e-7	4.510e-6	208
Calcium metabolism disorders	Craniometaphyseal dysplasia	2	1	ANKH (6), OTULIN (1)	0.20000	0.66667	7.084e-7	4.510e-6	208
Capillary malformation	Capillary malformation-arteriovenous malformation	2	2	GNAQ (3), PIK3CA (2)	0.20000	0.66667	7.084e-7	4.510e-6	65
Capillary malformation-arteriovenous malformation	Parkes weber syndrome	2	1	RASA1 (7), CCNH (1)	0.20000	0.66667	7.084e-7	4.510e-6	65
Shprintzen-goldberg syndrome	Thoracoabdominal aortic aneurysm	2	2	SKI (6), FBN1 (4)	0.20000	0.66667	7.084e-7	4.510e-6	64
Ruptured abdominal aortic aneurysm	Shprintzen-goldberg syndrome	2	2	SKI (6), FBN1 (4)	0.20000	0.66667	7.084e-7	4.510e-6	64
Ruptured aortic aneurysm	Shprintzen-goldberg syndrome	2	2	SKI (6), FBN1 (4)	0.20000	0.66667	7.084e-7	4.510e-6	64
Ruptured thoracic aortic aneurysm	Shprintzen-goldberg syndrome	2	2	SKI (6), FBN1 (4)	0.20000	0.66667	7.084e-7	4.510e-6	64
Bouillaud’s disease	Obstructive asthma	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.20000	0.66667	7.084e-7	4.510e-6	1
Early onset vitamin b6 dependent epilepsy	Pyridoxine dependent epilepsy	2	2	ALDH7A1 (4), PLPBP (4)	0.20000	0.66667	7.084e-7	4.510e-6	
Erythematosquamous dermatosis	Oculocutaneous albinism	3	3	TYR (6), MC1R (5), SLC45A2 (6)	0.09091	0.23077	7.173e-7	4.564e-6	
Gastritis	Optic neuritis	3	1	HLA-DRB1 (1), GSTM1 (1), HLA-DQB1 (2)	0.09091	0.23077	7.173e-7	4.564e-6	1
Immunodeficiency	Interferon gamma receptor deficiency	3	2	IFNGR2 (5), IFNGR1 (5), TMEM50B (1)	0.02143	1.00000	7.200e-7	4.579e-6	10
Lipoma	Meningioma	3	3	PTEN (2), TERT (2), BAP1 (2)	0.08824	0.25000	7.252e-7	4.610e-6	
Blood coagulation disorder	Lipoma	3	1	SLC19A2 (1), F5 (3), NME7 (1)	0.08824	0.25000	7.252e-7	4.610e-6	
Peripheral vascular disease	Venous insufficiency	3	0	ABO (1), SLC19A2 (1), F5 (1)	0.07500	0.33333	7.468e-7	4.745e-6	
Myeloproliferative disorder	Small vessel stroke	5	0	SH2B3 (1), ATXN2 (1), STN1 (1), PMF1 (1), PMF1-BGLAP (1)	0.05051	0.10000	7.503e-7	4.766e-6	
Autoimmune polyendocrine syndrome	Paroxysmal nocturnal hemoglobinuria	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.22222	0.50000	7.590e-7	4.793e-6	
Primary graft dysfunction	Vascular remodeling	2	0	GATA2 (1), SENP1 (1)	0.22222	0.50000	7.590e-7	4.793e-6	126
Intestinal pseudo-obstruction	Visceral neuropathy	2	1	NDE1 (1), ACTG2 (2)	0.22222	0.50000	7.590e-7	4.793e-6	426
Cold paroxysmal hemoglobinuria	Esophageal achalasia	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	
Autoimmune polyendocrine syndrome	Hemoglobinuria paroxysmal	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.22222	0.50000	7.590e-7	4.793e-6	
Budd-chiari syndrome	Thrombocytosis	2	2	JAK2 (4), CALR (3)	0.22222	0.50000	7.590e-7	4.793e-6	
Cafe-au-lait spots	Neurofibromatosis	2	2	NF1 (6), SPRED1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	71
Cafe-au-lait spots	Neurofibromatosis-noonan syndrome	2	2	NF1 (6), SPRED1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	71
Carotid artery thrombosis	Thrombasthenia	2	2	ITGB3 (2), ITGA2B (2)	0.22222	0.50000	7.590e-7	4.793e-6	67
Central nervous system disease	Diabetes microvascular complications	2	2	EPO (2), SOD2 (3)	0.22222	0.50000	7.590e-7	4.793e-6	163
Cerebral cavernous malformation	Developmental venous anomaly	2	2	PDCD10 (7), CCM2 (7)	0.22222	0.50000	7.590e-7	4.793e-6	249
Autoimmune polyendocrine syndrome	Cervical intraepithelial neoplasia	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	1
Cervical intraepithelial neoplasia	Esophageal achalasia	2	2	HLA-DQA1 (3), HLA-DQB1 (3)	0.22222	0.50000	7.590e-7	4.793e-6	1
Cervical intraepithelial neoplasia	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	1
Autoimmune polyendocrine syndrome	Cryoglobulinemia	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	1
Cryoglobulinemia	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	1
Autoimmune polyendocrine syndrome	Cold paroxysmal hemoglobinuria	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.22222	0.50000	7.590e-7	4.793e-6	
Autoimmune polyendocrine syndrome	Diabetic nephropathy type 1	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	1
Diabetic nephropathy type 1	Esophageal achalasia	2	2	HLA-DQA1 (3), HLA-DQB1 (3)	0.22222	0.50000	7.590e-7	4.793e-6	1
Diabetic nephropathy type 1	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.22222	0.50000	7.590e-7	4.793e-6	1
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Pontocerebellar hypoplasia	4	4	ATAD3A (4), TSEN54 (7), SEPSECS (5), RARS2 (6)	0.06250	0.12903	7.568e-7	4.793e-6	
Cartilage disease	Otospondylomegaepiphyseal dysplasia	2	2	COL2A1 (3), COL11A2 (4)	0.13333	1.00000	7.677e-7	4.831e-6	
Cleft palate and bilateral cleft lip	Deafness, sensorineural, autosomal-mitochondrial type	2	1	ND1 (1), COX1 (2)	0.13333	1.00000	7.677e-7	4.831e-6	
Distal myopathy	Welander distal myopathy	2	2	SQSTM1 (3), TIA1 (6)	0.13333	1.00000	7.677e-7	4.831e-6	
Coronary restenosis	Mitral valve disease	2	2	ACE (2), MTHFR (2)	0.13333	1.00000	7.677e-7	4.831e-6	60
Coronary restenosis	Rheumatic disease of mitral valve	2	2	ACE (2), MTHFR (2)	0.13333	1.00000	7.677e-7	4.831e-6	60
Coronary restenosis	Rheumatic mitral regurgitation	2	2	ACE (2), MTHFR (2)	0.13333	1.00000	7.677e-7	4.831e-6	60
Cleft palate and bilateral cleft lip	Congenital cardiomyopathy	2	0	ND5 (1), ND4 (1)	0.13333	1.00000	7.677e-7	4.831e-6	26
Aniridia-cerebellar ataxia-intellectual disability syndrome	Anterior segment mesenchymal dysgenesis	2	2	ITPR1 (4), PAX6 (3)	0.13333	1.00000	7.677e-7	4.831e-6	
autosomal recessive limb-girdle muscular dystrophy	Sarcoglycanopathies	2	2	SGCA (3), SGCG (2)	0.13333	1.00000	7.677e-7	4.831e-6	131
Apoceruloplasmin deficiency	Hemochromatosis	2	2	CP (2), SLC40A1 (5)	0.13333	1.00000	7.677e-7	4.831e-6	
Neurodegeneration with brain iron accumulation	Vitreoretinochoroidopathy	2	2	BEST1 (5), FTH1 (5)	0.13333	1.00000	7.677e-7	4.831e-6	
Lymphoproliferative syndrome	X-linked lymphoproliferative syndrome	2	2	XIAP (6), SH2D1A (7)	0.13333	1.00000	7.677e-7	4.831e-6	405
Lymphocytic b-cell leukemia	Sarcoma	4	2	TP53 (2), BCL2 (1), IL6 (1), ATM (2)	0.06250	0.12121	7.746e-7	4.873e-6	
Movement disorder	Visual disorder	4	4	TSEN2 (2), TSEN54 (2), ATXN7 (2), TSEN34 (2)	0.05405	0.20000	7.821e-7	4.919e-6	
Methylmalonic acidemia	Vitamin b12 deficiency	3	3	CD320 (7), MMAA (8), MMUT (8)	0.08333	0.27273	7.859e-7	4.942e-6	
Angle closure glaucoma	Graft-versus-host disease	3	1	MTHFR (2), GSTM1 (1), HGF (1)	0.09091	0.21429	7.881e-7	4.954e-6	
Kawasaki disease	Lupus nephritis	5	1	MBL2 (1), CD40LG (1), HLA-DQB1 (1), FCGR2A (3), CRP (1)	0.04902	0.11905	7.994e-7	5.023e-6	
Osteonecrosis of the femoral head	Venous thrombosis	4	4	F2 (2), PLAT (2), F5 (2), TFPI (2)	0.05634	0.18182	8.086e-7	5.080e-6	
Promyelocytic leukemia	Systemic mastocytosis	4	4	ABCA1 (2), TET2 (2), KIT (2), ASXL1 (2)	0.05714	0.17391	8.323e-7	5.227e-6	
Bone neoplasms	Carotid artery disease	4	4	PLAU (2), MMP9 (2), MMP2 (2), LTA (2)	0.05479	0.19048	8.333e-7	5.232e-6	
Non-organic psychosis	Substance-induced psychosis	4	4	GSTP1 (2), NPY1R (2), OPRM1 (2), PICK1 (2)	0.04819	0.23529	8.410e-7	5.279e-6	
Li-fraumeni syndrome	Sapho syndrome	2	2	TP53 (7), MDM2 (3)	0.22222	0.40000	8.433e-7	5.281e-6	
Li-fraumeni syndrome	Urogenital neoplasms	2	2	TP53 (7), CDKN2A (3)	0.22222	0.40000	8.433e-7	5.281e-6	
Hemoglobin e disease	Thalassemia	2	2	HBB (3), HBD (2)	0.22222	0.40000	8.433e-7	5.281e-6	
Sotos syndrome	Weaver syndrome	2	1	NSD1 (8), PIK3CA (1)	0.22222	0.40000	8.433e-7	5.281e-6	
Chordoma	Hereditary breast-ovarian cancer syndrome	2	2	PALB2 (2), BRCA2 (4)	0.22222	0.40000	8.433e-7	5.281e-6	
Butterfly-shaped pigmentary macular dystrophy	Vitelliform macular dystrophy	2	1	PRPH2 (4), HTRA1 (1)	0.22222	0.40000	8.433e-7	5.281e-6	
Congenital short qt syndrome	Long qt syndrome, digenic	2	2	KCNH2 (2), KCNQ1 (2)	0.22222	0.40000	8.433e-7	5.281e-6	
Commissural facial cleft	Congenital iris coloboma	2	2	PAX6 (2), SALL2 (4)	0.22222	0.40000	8.433e-7	5.281e-6	25
Membranous glomerulonephritis	Toxic epidermal necrolysis	4	1	POU5F1 (1), HLA-B (2), PSORS1C1 (1), TCF19 (1)	0.06154	0.12903	8.474e-7	5.305e-6	
Atrophy	Neuronal ceroid lipofuscinosis	3	3	MAPK3 (2), RPS6KB1 (2), CLN6 (7)	0.07692	0.30000	8.782e-7	5.497e-6	
Uterine prolapse	Visual system disorder	2	0	EFEMP1 (1), PNPT1 (1)	0.12500	1.00000	8.858e-7	5.541e-6	152
Baraitser-winter cerebrofrontofacial syndrome	Coloboma	2	2	ACTB (6), ACTG1 (7)	0.12500	1.00000	8.858e-7	5.541e-6	
Thyroid cancer	Thyroid carcinoma	3	0	TRMO (1), NRG1 (1), PCNX2 (1)	0.07143	0.33333	8.953e-7	5.599e-6	
Clinodactyly	Micrognathism	3	0	DYNC2H1 (1), SATB2 (1), RPS6KA3 (1)	0.09091	0.17647	9.028e-7	5.644e-6	197
Anencephaly	Hydrolethalus syndrome	2	1	HYLS1 (7), PUS3 (1)	0.18182	0.66667	9.108e-7	5.670e-6	
Bone osteosarcoma	Small cell carcinoma	2	2	TP53 (2), RB1 (2)	0.18182	0.66667	9.108e-7	5.670e-6	
Congenital afibrinogenemia	Thromboembolic pulmonary hypertension	2	2	FGA (3), FGG (2)	0.18182	0.66667	9.108e-7	5.670e-6	156
Congenital fibrinogen deficiency	Thromboembolic pulmonary hypertension	2	2	FGA (4), FGG (3)	0.18182	0.66667	9.108e-7	5.670e-6	156
Congenital hypofibrinogenemia	Thromboembolic pulmonary hypertension	2	2	FGA (2), FGG (2)	0.18182	0.66667	9.108e-7	5.670e-6	156
Afibrinogenemia	Thromboembolic pulmonary hypertension	2	2	FGA (2), FGG (2)	0.18182	0.66667	9.108e-7	5.670e-6	156
Venous hypertension	Venous insufficiency	2	0	SLC19A2 (1), F5 (1)	0.18182	0.66667	9.108e-7	5.670e-6	84
Cerebral thrombosis	Von willebrand disorder	2	1	PLAT (1), VWF (8)	0.18182	0.66667	9.108e-7	5.670e-6	
Intestinal perforation	Optic neuropathy	2	1	NOS3 (2), IFNA2 (1)	0.18182	0.66667	9.108e-7	5.670e-6	
Leukocyte disorders	Splenic disease	2	2	FAS (2), PLG (3)	0.18182	0.66667	9.108e-7	5.670e-6	246
Hemoglobin m disease	Polycythemia vera	2	2	HBA1 (4), HBB (5)	0.18182	0.66667	9.108e-7	5.670e-6	24
Polycythemia vera	Unstable hemoglobin disease	2	2	HBA1 (3), HBB (5)	0.18182	0.66667	9.108e-7	5.670e-6	24
progressive myoclonus epilepsy	Unverricht-lundborg syndrome	2	2	SCARB2 (3), PRICKLE1 (3)	0.18182	0.66667	9.108e-7	5.670e-6	339
Acute disseminated encephalomyelitis	Pulmonary alveolar proteinosis	2	1	HLA-DRB1 (1), HLA-DRB5 (2)	0.18182	0.66667	9.108e-7	5.670e-6	
Ellis-van creveld syndrome	Weyers acrofacial dysostosis	2	2	EVC (7), EVC2 (7)	0.18182	0.66667	9.108e-7	5.670e-6	233
Iron metabolism disorder	Neurodegeneration with brain iron accumulation	3	3	CP (4), FTL (4), FTH1 (5)	0.08824	0.21429	9.121e-7	5.677e-6	
Hemorrhage	Platelet disorder	3	3	ITGB3 (2), FERMT3 (2), STXBP2 (2)	0.08571	0.23077	9.418e-7	5.860e-6	
Autoimmune hepatitis	Hyperplasia	4	4	LEP (2), TGFB1 (2), IL13 (2), IL9 (2)	0.06061	0.12903	9.457e-7	5.881e-6	
Pancreatic ductal carcinoma	Uterine neoplasms	4	0	NOTCH1 (1), VEGFA (1), KRAS (1), HES1 (1)	0.06061	0.12903	9.457e-7	5.881e-6	
Membranous glomerulonephritis	Small cell lung carcinoma	5	2	HLA-DQA1 (2), HLA-DRB1 (2), HLA-B (1), C6orf15 (1), SFTA2 (1)	0.04237	0.16129	9.710e-7	6.036e-6	
Genetic predisposition to disease	Testicular neoplasms	3	0	ERCC1 (1), ERCC4 (1), BAP1 (1)	0.05660	0.42857	9.864e-7	6.130e-6	
Hemophilia a	Hemophilia b	2	1	F2 (1), F9 (7)	0.11765	1.00000	1.012e-6	6.282e-6	
ehlers-danlos syndrome, classic type	Loeys-dietz syndrome	2	2	COL5A1 (2), COL5A2 (2)	0.11765	1.00000	1.012e-6	6.282e-6	
Encephalopathy due to mitochondrial and peroxisomal fission defect	Mitochondrial encephalomyopathy	2	2	DNM1L (4), MFF (2)	0.11765	1.00000	1.012e-6	6.282e-6	
Combined osteogenesis imperfecta and ehlers-danlos syndrome 	Dentinogenesis imperfecta	2	2	COL1A1 (4), COL1A2 (4)	0.11765	1.00000	1.012e-6	6.282e-6	
Congenital malformation syndromes predominantly involving limbs	Vacterl association	2	0	DLX5 (1), SMOC1 (1)	0.11765	1.00000	1.012e-6	6.282e-6	195
Aortic stenosis	Neoplasms	5	0	ARHGAP24 (1), FADS1 (1), FADS2 (1), MYRF (1), TMEM258 (1)	0.04854	0.10638	1.025e-6	6.362e-6	
Cachexia	Hepatolenticular degeneration	3	2	TNF (2), IL6 (2), CXCL8 (1)	0.08108	0.25000	1.047e-6	6.492e-6	43
Anti-neutrophil antibody associated vasculitis	Granulomatosis with polyangiitis	3	3	HLA-DPB1 (3), HLA-DPA1 (3), PRTN3 (4)	0.08571	0.21429	1.048e-6	6.501e-6	
Nasal polyp	Selective iga deficiency disease	4	0	FOXP1 (1), HLA-DQA1 (1), CLEC16A (1), GATA3 (1)	0.05970	0.12903	1.052e-6	6.522e-6	
Fanconi anemia	Pituitary stalk interruption syndrome	4	4	FANCD2 (7), FANCA (7), FANCG (6), SLX4 (8)	0.05970	0.12903	1.052e-6	6.522e-6	
Autoimmune polyendocrine syndrome	Vogt-koyanagi-harada disease	2	2	HLA-DQA1 (2), HLA-DRB1 (3)	0.20000	0.50000	1.062e-6	6.561e-6	1
Central nervous system non-hodgkin lymphoma	Waldenstrom macroglobulinemia	2	0	EXOC2 (1), IRF4 (1)	0.20000	0.50000	1.062e-6	6.561e-6	1
Intestinal disaccharide malabsorption	Prediabetes	2	0	HK1 (1), GCK (1)	0.20000	0.50000	1.062e-6	6.561e-6	
46,xy disorder of sex developmen	Male pseudohypopituitarism	2	2	AKR1C2 (3), AKR1C4 (3)	0.20000	0.50000	1.062e-6	6.561e-6	363
Cortical dysplasia	Focal cortical dysplasia	2	1	TBR1 (1), TSC1 (3)	0.20000	0.50000	1.062e-6	6.561e-6	
Autoimmune polyendocrine syndrome	Central nervous system non-hodgkin lymphoma	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.20000	0.50000	1.062e-6	6.561e-6	1
Developmental venous anomaly	Hereditary hemorrhagic telangiectasia	2	0	RASA1 (1), CCNH (1)	0.20000	0.50000	1.062e-6	6.561e-6	
Arima syndrome	Encephalocele	2	0	CC2D2A (1), CEP290 (1)	0.20000	0.50000	1.062e-6	6.561e-6	
Arteriovenous hemangioma	Hereditary hemorrhagic telangiectasia	2	1	ENG (7), RASA1 (1)	0.20000	0.50000	1.062e-6	6.561e-6	
Arteriovenous hemangioma	Congenital venous anomaly	2	0	GLMN (1), TEK (1)	0.20000	0.50000	1.062e-6	6.561e-6	257
Bestrophinopathy	Iron overload	2	2	BEST1 (7), FTH1 (2)	0.20000	0.50000	1.062e-6	6.561e-6	
Bonnevie-ullrich syndrome	Ureteral calculi	2	2	CAT (2), SOD1 (2)	0.20000	0.50000	1.062e-6	6.561e-6	294
Breast disease	Congenital foot deformity	2	2	TP63 (2), PTHLH (2)	0.20000	0.50000	1.062e-6	6.561e-6	30
Cutaneous mastocytosis	Secondary malignant neoplasm	3	0	HBE1 (1), HBG2 (1), OR51B5 (1)	0.08824	0.17647	1.071e-6	6.612e-6	237
Larsen syndrome	Marshall syndrome	3	1	XYLT2 (1), PLOD3 (1), GZF1 (3)	0.08824	0.17647	1.071e-6	6.612e-6	
Digestive system disease	Hemorrhoid	7	0	NF1 (1), ANO1 (1), FOXP1 (1), ELN (1), TMEM270 (1), ABO (1), FAM185A (1)	0.03977	0.07865	1.074e-6	6.628e-6	
Anorexia	Graves ophthalmopathy	3	3	IL2 (2), TNF (2), IL1RN (2)	0.08824	0.16667	1.083e-6	6.677e-6	153
Eating disorder	Generalized anxiety disorder	5	0	ASB3 (1), MGMT (1), TMEM106B (1), ADGRL4 (1), IFI44 (1)	0.04630	0.12500	1.125e-6	6.935e-6	75
Desmoid tumor	Endometrial hyperplasia	2	2	CTNNB1 (2), APC (6)	0.16667	0.66667	1.138e-6	6.993e-6	
Achondrogenesis	Epiphyseal dysplasia	2	2	SLC26A2 (3), COL2A1 (4)	0.16667	0.66667	1.138e-6	6.993e-6	
Deep vein thrombosis	Heparin cofactor 2 deficiency	2	1	PI4KA (1), SERPIND1 (5)	0.16667	0.66667	1.138e-6	6.993e-6	
Myelomonocytic leukemia	Schimmelpenning-feuerstein-mims syndrome	2	2	KRAS (2), NRAS (2)	0.16667	0.66667	1.138e-6	6.993e-6	
Combined immunodeficiency with granulomatosis	Omenn syndrome	2	2	RAG1 (4), RAG2 (4)	0.16667	0.66667	1.138e-6	6.993e-6	176
Angelman syndrome	Bruxism	2	1	CDKL5 (3), MECP2 (1)	0.16667	0.66667	1.138e-6	6.993e-6	55
Congenital afibrinogenemia	Deep vein thrombosis	2	2	FGA (3), FGB (2)	0.16667	0.66667	1.138e-6	6.993e-6	156
Congenital fibrinogen deficiency	Deep vein thrombosis	2	2	FGA (3), FGB (3)	0.16667	0.66667	1.138e-6	6.993e-6	156
Congenital hypofibrinogenemia	Deep vein thrombosis	2	0	FGA (1), FGB (1)	0.16667	0.66667	1.138e-6	6.993e-6	156
Afibrinogenemia	Deep vein thrombosis	2	2	FGA (2), FGB (2)	0.16667	0.66667	1.138e-6	6.993e-6	156
Beta-hydroxyisobutyryl-coa deacylase deficiency	Deafness, x-linked	2	1	AIFM1 (4), RAB33A (1)	0.16667	0.66667	1.138e-6	6.993e-6	
Brachycephaly	Saethre-chotzen syndrome	2	2	FGFR3 (2), TWIST1 (6)	0.16667	0.66667	1.138e-6	6.993e-6	
Brain edema	Hematoma	2	0	S100B (1), PLAT (1)	0.16667	0.66667	1.138e-6	6.993e-6	29
Brain edema	Spinal cord compression	2	2	TNF (2), PLAT (2)	0.16667	0.66667	1.138e-6	6.993e-6	29
Coffin-siris syndrome	Rhabdoid tumor predisposition syndrome	2	2	SMARCA4 (7), SMARCB1 (7)	0.11111	1.00000	1.147e-6	7.037e-6	
Chondrodysplasia	X-linked chondrodysplasia punctata	2	2	ARSL (6), EBP (5)	0.11111	1.00000	1.147e-6	7.037e-6	
Atrichia with papular lesions	Hypotrichosis	2	2	HR (6), HRURF (4)	0.11111	1.00000	1.147e-6	7.037e-6	
Combined saposin deficiency	Gaucher disease	2	1	PSAP (7), CDH23 (1)	0.11111	1.00000	1.147e-6	7.037e-6	114
Embryonal carcinoma	Hodgkin disease	2	0	TNFRSF8 (1), TNFSF8 (1)	0.11111	1.00000	1.147e-6	7.037e-6	334
Hemorrhage	Liver failure	4	4	VEGFA (2), F2 (2), POMC (2), F7 (2)	0.05479	0.16667	1.169e-6	7.167e-6	
Diabetes complications	Diabetic angiopathies	3	3	VEGFA (2), PON1 (2), HP (2)	0.07895	0.25000	1.172e-6	7.181e-6	
Diabetes complications	Diabetic peripheral angiopathy	3	3	VEGFA (2), PON1 (2), HP (2)	0.07895	0.25000	1.172e-6	7.181e-6	
Aplastic anemia	Fanconi anemia	4	2	GSTT1 (1), TNF (2), GSTM1 (1), FANCM (6)	0.05882	0.12500	1.200e-6	7.355e-6	
Cutaneous lupus erythematosus	Membranous glomerulonephritis	3	2	HLA-DQA1 (2), HLA-DRB1 (2), PSORS1C1 (1)	0.07500	0.27273	1.206e-6	7.386e-6	1
Cystic kidney disease	Senior-loken syndrome	3	3	CEP290 (6), SDCCAG8 (5), INVS (2)	0.08108	0.23077	1.209e-6	7.401e-6	8
Corneal disease	Keratoconus	4	1	COL5A1 (1), LRP1B (1), RXRA (1), ZNF469 (2)	0.03333	0.33333	1.211e-6	7.413e-6	
Barrett esophagus	Esophageal neoplasms	6	6	CDH13 (2), PTGS2 (2), CYP26A1 (2), NR1I2 (2), RPRM (2), SST (2)	0.04255	0.08333	1.219e-6	7.458e-6	
Bone disease	Female infertility	7	5	HLA-DQA1 (1), HLA-DRB1 (1), CYP19A1 (2), ESR1 (3), IGF1 (2), AHR (2), LEPR (2)	0.03911	0.08537	1.229e-6	7.521e-6	
Digestive system disease	Small cell lung carcinoma	7	1	ALDH1A2 (1), HLA-DQA1 (1), HLA-DRB1 (1), NRP1 (1), CSF3 (2), MARCHF1 (1), NEDD9 (1)	0.03933	0.07692	1.250e-6	7.644e-6	
Asbestosis	Oral submucous fibrosis	3	2	GSTT1 (2), TNF (2), GSTM1 (1)	0.08571	0.17647	1.260e-6	7.702e-6	
Aplasia cutis congenita	Other epidermolysis bullosa	2	2	PLEC (3), ITGB4 (3)	0.20000	0.40000	1.265e-6	7.704e-6	229
Breast implant-associated anaplastic large cell lymphoma	Hereditary breast-ovarian cancer syndrome	2	2	BRCA2 (4), BRCA1 (4)	0.20000	0.40000	1.265e-6	7.704e-6	
Cadasil	Chilblain lupus erythematosus	2	1	TREX1 (5), ATRIP (1)	0.20000	0.40000	1.265e-6	7.704e-6	159
Congenital malformation syndromes associated with short stature	noonan syndrome with multiple lentigines	2	2	BRAF (2), PTPN11 (2)	0.20000	0.40000	1.265e-6	7.704e-6	49
Aortic arch syndrome	Birdshot chorioretinopathy	2	1	HLA-B (1), HLA-A (2)	0.20000	0.40000	1.265e-6	7.704e-6	179
Cyanosis	Methemoglobinemia	2	2	HBB (4), CYB5R3 (5)	0.20000	0.40000	1.265e-6	7.704e-6	
Cyclin-dependent kinase-like 5 deficiency	Retinoschisis	2	1	CDKL5 (1), RS1 (4)	0.20000	0.40000	1.265e-6	7.704e-6	
De lange syndrome	Wiedemann-steiner syndrome	2	2	SMC1A (3), SMC3 (3)	0.20000	0.40000	1.265e-6	7.704e-6	301
Disruptive impulse-control and conduct disorder	Pituitary neoplasms	2	2	PRL (2), DRD2 (2)	0.20000	0.40000	1.265e-6	7.704e-6	118
Central areolar choroidal dystrophy	Retinitis punctata albescens	2	1	PRPH2 (3), EYS (1)	0.20000	0.40000	1.265e-6	7.704e-6	
Cerebrooculofacioskeletal syndrome	Uv-sensitive syndrome	2	1	ERCC6 (6), PGBD3 (1)	0.20000	0.40000	1.265e-6	7.704e-6	352
Clear cell sarcoma of kidney	Endometrial stromal sarcoma	2	0	YWHAE (1), NUTM2B (1)	0.20000	0.40000	1.265e-6	7.704e-6	225
Growth hormone-secreting pituitary adenoma	Pituitary neoplasms	2	0	PRL (1), GH1 (1)	0.20000	0.40000	1.265e-6	7.704e-6	
Hereditary sensory and motor neuropathy	Neuropathy, congenital hypomyelinating	2	2	EGR2 (3), MPZ (5)	0.20000	0.40000	1.265e-6	7.704e-6	243
Arteriosclerosis	Barrett esophagus	5	3	APOB (2), MMP12 (1), PTGS2 (2), MMP1 (1), MSR1 (5)	0.04587	0.12195	1.276e-6	7.772e-6	
Thyroid cancer	Tongue neoplasms	3	1	TERT (1), SOD2 (1), TYMS (2)	0.06977	0.30000	1.277e-6	7.774e-6	
Hematologic disease	Polycythemia	3	1	H2BC4 (1), HFE (1), JAK2 (3)	0.08571	0.16667	1.285e-6	7.816e-6	24
B-lymphoblastic leukemia/lymphoma	Carcinogenesis	3	3	GATA3 (2), CDKN2A (2), ABL1 (2)	0.08571	0.16667	1.285e-6	7.816e-6	45
Congenital cardiomyopathy	Melas syndrome	2	1	ND5 (2), ND4 (1)	0.10526	1.00000	1.291e-6	7.845e-6	26
Junctional epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa	2	2	JUP (3), DSP (5)	0.10526	1.00000	1.291e-6	7.845e-6	
Lipodystrophy	Restrictive dermopathy	2	2	LMNA (7), ZMPSTE24 (5)	0.10526	1.00000	1.291e-6	7.845e-6	
Congenital neck anomaly	Nemaline myopathy	2	1	RIF1 (1), NEB (7)	0.10526	1.00000	1.291e-6	7.845e-6	
Mouth neoplasms	Neoplasms	5	1	TP53 (2), RMDN2 (1), KCNA5 (1), ANGPTL2 (1), RALGPS1 (1)	0.04717	0.10638	1.311e-6	7.964e-6	
Congenital anomalies of the kidney and urinary tract	Mayer-rokitansky-kuster-hauser syndrome	3	2	HNF1B (2), GREB1L (1), TBX6 (2)	0.05172	0.42857	1.335e-6	8.107e-6	
Small cell lung carcinoma	Transitional cell carcinoma	5	1	TP53 (2), CREBBP (1), CSF3 (1), KMT2A (1), EP300 (1)	0.04167	0.15152	1.344e-6	8.160e-6	
Spondyloepimetaphyseal dysplasia	Spondylometaphyseal dysplasia	3	3	COL2A1 (5), TRPV4 (6), TONSL (3)	0.08108	0.21429	1.360e-6	8.255e-6	
Blindness	Night blindness, congenital stationary	3	1	ABCA4 (1), USH2A (1), RHO (3)	0.08108	0.21429	1.360e-6	8.255e-6	
Erectile dysfunction	Sleep apnea	5	4	SLC39A8 (1), NOS3 (2), BCL2 (3), EDN1 (2), EDNRA (2)	0.04717	0.10204	1.377e-6	8.355e-6	
Melanocytic nevus	Schimmelpenning-feuerstein-mims syndrome	2	2	NRAS (2), HRAS (2)	0.15385	0.66667	1.391e-6	8.415e-6	17
Bouillaud’s disease	Gastroparesis	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.15385	0.66667	1.391e-6	8.415e-6	1
Dend syndrome	Hyperinsulinemic hypoglycemia	2	2	ABCC8 (5), KCNJ11 (6)	0.15385	0.66667	1.391e-6	8.415e-6	
Congenital fiber type disproportion myopathy	Eichsfeld type congenital muscular dystrophy	2	2	ACTA1 (3), SELENON (4)	0.15385	0.66667	1.391e-6	8.415e-6	
Congenital fiber type disproportion myopathy	Rigid spine muscular dystrophy	2	2	ACTA1 (4), SELENON (4)	0.15385	0.66667	1.391e-6	8.415e-6	
Congenital fiber type disproportion myopathy	Multiminicore myopathy	2	2	MYH7 (2), SELENON (3)	0.15385	0.66667	1.391e-6	8.415e-6	
Ataxia telangiectasia	Chromosome 17q21.31 deletion syndrome	2	1	ATM (7), C11orf65 (1)	0.15385	0.66667	1.391e-6	8.415e-6	364
Autoimmune lymphoproliferative disorder	Schimmelpenning-feuerstein-mims syndrome	2	2	KRAS (2), NRAS (4)	0.15385	0.66667	1.391e-6	8.415e-6	17
Anhydramnios	autosomal recessive polycystic kidney disease	2	2	PKD1 (2), PKHD1 (2)	0.15385	0.66667	1.391e-6	8.415e-6	74
Bouillaud’s disease	Cutaneous lupus erythematosus	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.15385	0.66667	1.391e-6	8.415e-6	1
Cutaneous lupus erythematosus	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.15385	0.66667	1.391e-6	8.415e-6	1
Cutaneous lupus erythematosus	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.15385	0.66667	1.391e-6	8.415e-6	1
Delirium	Learning disorders	3	3	IGF1 (2), IL1RN (2), TH (2)	0.06818	0.30000	1.393e-6	8.420e-6	
Lymphedema	Sinusitis	3	1	HLA-DQA1 (1), HLA-DRB1 (1), MET (2)	0.08333	0.18750	1.401e-6	8.466e-6	1
Autoimmune polyendocrine syndrome	Obstructive asthma	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.18182	0.50000	1.416e-6	8.550e-6	1
Esophageal achalasia	Obstructive asthma	2	2	HLA-DQA1 (3), HLA-DQB1 (3)	0.18182	0.50000	1.416e-6	8.550e-6	1
Obstructive asthma	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.18182	0.50000	1.416e-6	8.550e-6	1
Turner syndrome	Ureteral calculi	2	2	CAT (2), SOD1 (2)	0.18182	0.50000	1.416e-6	8.550e-6	294
Cavernous malformations of cns	Developmental venous anomaly	2	0	PDCD10 (1), CCM2 (1)	0.18182	0.50000	1.416e-6	8.550e-6	249
Allergic contact dermatitis	Contact dermatitis	6	6	BCL2 (2), TLR4 (2), CYP1A1 (2), IL18 (2), CASP8 (2), CCR1 (2)	0.04196	0.08219	1.432e-6	8.644e-6	46
Amyloid polyneuropathy	Amyloidosis	2	2	APOA1 (2), TTR (6)	0.10000	1.00000	1.443e-6	8.695e-6	
Aortic disease	Brittle cornea syndrome	2	2	PRDM5 (7), ZNF469 (7)	0.10000	1.00000	1.443e-6	8.695e-6	
B-lymphoblastic leukemia/lymphoma	Vulvar lichen sclerosus	2	2	TP53 (3), CDKN2A (3)	0.10000	1.00000	1.443e-6	8.695e-6	45
Neuropathy	Visual system disorder	2	0	EFEMP1 (1), PNPT1 (1)	0.10000	1.00000	1.443e-6	8.695e-6	152
Ductal carcinoma of breast	Lymphatic metastasis	3	0	SOD2 (1), ERBB2 (1), CD274 (1)	0.07500	0.25000	1.451e-6	8.744e-6	
Ectodermal dysplasia	Tooth agenesis	4	4	EDA (6), TSPEAR (4), WNT10A (8), EDARADD (6)	0.05714	0.12500	1.474e-6	8.879e-6	76
Head and neck neoplasms	Mucositis	3	1	IL1B (2), CSF3 (1), TGFA (1)	0.05660	0.37500	1.477e-6	8.894e-6	
Interstitial lung disease	Pulmonary surfactant metabolism dysfunction	3	2	BMP1 (1), SFTPC (6), ABCA3 (7)	0.04286	0.50000	1.491e-6	8.975e-6	
Hemorrhage	Portal hypertension	3	3	REN (2), VEGFA (2), EPHA7 (2)	0.08108	0.20000	1.495e-6	9.001e-6	
Essential tremor	Movement disorder	6	4	CNTNAP5 (1), GSTP1 (2), IGF1 (3), DRD3 (2), DPP6 (1), GNAO1 (3)	0.04027	0.10526	1.497e-6	9.006e-6	
Dry eye syndrome	Glomerulonephritis	6	2	NRXN1 (1), THSD7A (1), IL1B (2), IL6 (2), FRMD4A (1), DNAJB6 (1)	0.04027	0.10526	1.497e-6	9.006e-6	
Aortic dissection	Upper respiratory tract disorder	3	3	SMAD3 (3), IL18R1 (2), IL1RL1 (2)	0.08333	0.16667	1.510e-6	9.084e-6	
Endometriosis	Pelvic organ prolapse	15	5	WT1 (1), ABCC9 (3), CAMK1D (1), FOXP2 (1), NAALADL2 (1), NRP1 (3), PTPRD (1), SBF2 (1), BCL2 (1), DPP6 (1), EYA1 (1), DUSP1 (3)	0.02994	0.10791	1.546e-6	9.299e-6	
Diabetic eye disease	Hyperuricemia	5	2	RREB1 (1), APOE (2), TGFB1 (3), GCKR (1), KCNQ1 (1)	0.04630	0.10417	1.578e-6	9.489e-6	
Focal glomerulosclerosis	Preeclampsia	6	6	ACTN4 (2), AGT (2), SERPINE1 (2), TRPC6 (2), PLCE1 (2), EDN1 (2)	0.04000	0.10526	1.590e-6	9.555e-6	
Chorioretinopathy with microcephaly	Optic atrophy	3	3	TUBGCP6 (2), PLK4 (2), TUBGCP4 (2)	0.01648	1.00000	1.598e-6	9.599e-6	
Benign recurrent intrahepatic cholestasis	Intrahepatic cholestasis of pregnancy	2	2	ATP8B1 (3), ABCB11 (3)	0.09524	1.00000	1.603e-6	9.620e-6	135
Canavan disease	Fraser syndrome	2	1	ASPA (7), SPATA22 (1)	0.09524	1.00000	1.603e-6	9.620e-6	
congenital heart disease with heterotaxy syndrome	Situs inversus	2	2	ZIC3 (2), NODAL (3)	0.09524	1.00000	1.603e-6	9.620e-6	54
Glanzmann thrombasthenia	Platelet-type bleeding disorder	2	2	ITGB3 (8), ITGA2B (8)	0.09524	1.00000	1.603e-6	9.620e-6	67
Latent autoimmune diabetes in adults	Selective iga deficiency disease	3	0	HLA-DQA1 (1), RBM17 (1), PFKFB3 (1)	0.07317	0.25000	1.606e-6	9.629e-6	
Hyperplasia	Papilloma	3	0	PTGS2 (1), TGFB1 (1), CCND1 (1)	0.07317	0.25000	1.606e-6	9.629e-6	
Neuronal ceroid lipofuscinosis	Trigeminal neuralgia	3	3	GFAP (2), MAPK1 (2), MAPK3 (2)	0.07317	0.25000	1.606e-6	9.629e-6	
Congenital impairment of spermatozoa motility	Male infertility spermatogenesis disorder	3	0	ARMC2 (1), TTC29 (1), DNAH17 (1)	0.08108	0.18750	1.610e-6	9.650e-6	11
Juvenile arthritis	Lung neoplasms	12	0	STAT3 (1), FOS (1), NRG1 (1), EGR1 (1), MAPK1 (1), KRAS (1), DAPK1 (1), FOSL2 (1), FOSB (1), JUN (1), KCNJ15 (1), STIM1 (1)	0.03217	0.09231	1.612e-6	9.663e-6	
Dermatologic disorder	Juvenile arthritis	7	7	IL1RN (2), ALOX12 (2), CD83 (2), NR4A2 (2), TNFAIP6 (2), TNIK (2), UBE2E1 (2)	0.03646	0.10294	1.643e-6	9.842e-6	
Brain neoplasms	Tongue neoplasms	3	0	TERT (1), SOD2 (1), HRAS (1)	0.06522	0.30000	1.644e-6	9.850e-6	
Hyperkinesia	Lewy body disease	5	5	NTRK2 (2), NGF (2), NTS (3), TH (2), SNCG (2)	0.04032	0.15152	1.664e-6	9.965e-6	
Desmoid tumor	Intestinal neoplasms	2	2	CTNNB1 (3), APC (6)	0.14286	0.66667	1.670e-6	9.969e-6	
Bouillaud’s disease	Latent autoimmune diabetes in adults	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.14286	0.66667	1.670e-6	9.969e-6	1
Lipoma	Venous hypertension	2	0	SLC19A2 (1), F5 (1)	0.14286	0.66667	1.670e-6	9.969e-6	
Bietti crystalline corneoretinal dystrophy	Hereditary corneal dystrophy	2	1	CYP4V2 (6), KLKB1 (1)	0.14286	0.66667	1.670e-6	9.969e-6	
Hyperoxaluria	Pfaundler-hurler syndrome	2	1	IDUA (1), SLC26A1 (2)	0.14286	0.66667	1.670e-6	9.969e-6	300
Imerslund-grasbeck syndrome	Vitamin b deficiency	2	2	CUBN (6), AMN (5)	0.14286	0.66667	1.670e-6	9.969e-6	100
Bile acid malabsorption	Diabetes complications	2	2	SLC10A2 (5), SLC51B (4)	0.14286	0.66667	1.670e-6	9.969e-6	366
Congenital respiratory system anomaly	familial thoracic aortic aneurysm and aortic dissection	2	2	TGFB2 (2), TGFB3 (2)	0.14286	0.66667	1.670e-6	9.969e-6	
Autoimmune musculoskeletal system disorder	Bouillaud’s disease	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.14286	0.66667	1.670e-6	9.969e-6	1
Autoimmune musculoskeletal system disorder	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.14286	0.66667	1.670e-6	9.969e-6	1
Autoimmune musculoskeletal system disorder	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.14286	0.66667	1.670e-6	9.969e-6	1
inherited retinal dystrophy	Night blindness, congenital stationary	3	3	PDE6B (4), GNAT1 (4), SLC24A1 (4)	0.07895	0.20000	1.698e-6	1.014e-5	160
Hemochromatosis	Hepatolenticular degeneration	3	3	CP (2), TNF (2), HAMP (6)	0.07692	0.21429	1.728e-6	1.031e-5	
Diffuse large b-cell lymphoma	Necrosis	5	0	CAT (1), BCL2 (1), FAS (1), SOD2 (1), SOD3 (1)	0.04630	0.09091	1.755e-6	1.047e-5	
Cushing syndrome	Sick sinus syndrome	3	3	CACNA1D (2), POMC (2), KCNJ5 (2)	0.08108	0.16667	1.761e-6	1.050e-5	
Congenital stenosis of aortic valve	Varicose veins	2	0	ELN (1), MMP1 (1)	0.18182	0.40000	1.770e-6	1.052e-5	
Constipation	Nausea	2	0	POMC (1), OPRM1 (1)	0.18182	0.40000	1.770e-6	1.052e-5	101
Chiari-frommel syndrome	Disruptive impulse-control and conduct disorder	2	1	PRL (1), DRD2 (2)	0.18182	0.40000	1.770e-6	1.052e-5	118
Christ-siemens-touraine syndrome	Hypohidrotic ectodermal dysplasia	2	2	EDAR (3), EDARADD (3)	0.18182	0.40000	1.770e-6	1.052e-5	76
46,xx sex reversal	46,xy sex reversal	2	2	NR5A1 (2), SRY (2)	0.18182	0.40000	1.770e-6	1.052e-5	
Glucose-6-phosphate dehydrogenase deficiency	Hyper-igm immunodeficiency syndrome	2	1	G6PD (3), IKBKG (1)	0.18182	0.40000	1.770e-6	1.052e-5	12
Hereditary bundle branch system defect	Paroxysmal familial ventricular fibrillation	2	1	DSP (1), SCN5A (2)	0.18182	0.40000	1.770e-6	1.052e-5	3
Tubular aggregate myopathy	Vacuolar myopathy	2	2	STIM1 (4), CASQ1 (3)	0.18182	0.40000	1.770e-6	1.052e-5	
Cerebral small vessel disease	Intracerebral hemorrhage	2	2	COL4A2 (3), COL4A1 (2)	0.09091	1.00000	1.772e-6	1.052e-5	33
Intracerebral hemorrhage	Vascular leukoencephalopathy	2	2	COL4A2 (3), COL4A1 (3)	0.09091	1.00000	1.772e-6	1.052e-5	33
Congenital porencephaly	Intracerebral hemorrhage	2	2	COL4A2 (2), COL4A1 (2)	0.09091	1.00000	1.772e-6	1.052e-5	33
Intracerebral hemorrhage	Posttraumatic porencephalic cyst of brain	2	2	COL4A2 (2), COL4A1 (2)	0.09091	1.00000	1.772e-6	1.052e-5	33
Embryonal carcinoma	Graft-versus-host disease	2	2	TNFRSF8 (2), TNFSF8 (2)	0.09091	1.00000	1.772e-6	1.052e-5	
Cushing syndrome	Glucocorticoid-remediable aldosteronism	2	2	CYP11B2 (2), CYP11B1 (4)	0.09091	1.00000	1.772e-6	1.052e-5	
Congenital cardiomyopathy	Postaxial polydactyly	2	0	ND5 (1), ND4 (1)	0.09091	1.00000	1.772e-6	1.052e-5	26
Brachydactyly	Hemimelia of limb	2	2	NOG (5), HOXD13 (6)	0.09091	1.00000	1.772e-6	1.052e-5	111
Amyloidosis	Splenomegaly	3	3	APP (2), PSEN1 (2), APOE (2)	0.08108	0.15789	1.792e-6	1.064e-5	
Anencephaly	Neural tube defects, folate-sensitive	2	2	MTHFR (2), MTRR (2)	0.16667	0.50000	1.821e-6	1.079e-5	155
Congenital hemihypertrophy	Congenital joint contractures	2	0	KIF1B (1), SH3TC2 (1)	0.16667	0.50000	1.821e-6	1.079e-5	
Congenital arteriovenous malformation	Penile neoplasms	2	2	HRAS (2), PIK3CA (2)	0.16667	0.50000	1.821e-6	1.079e-5	17
Acrofacial dysostosis	Ellis-van creveld syndrome	2	2	EVC (7), EVC2 (8)	0.16667	0.50000	1.821e-6	1.079e-5	233
Benign neonatal epilepsy	Epilepsy of infancy with migrating focal seizures	2	2	KCNQ2 (4), SCN2A (3)	0.16667	0.50000	1.821e-6	1.079e-5	
Thrombasthenia	Von willebrand disorder	2	1	ITGA2 (1), ITGA2B (2)	0.16667	0.50000	1.821e-6	1.079e-5	
Intracellular cobalamin metabolism disorder	Neural tube defects, folate-sensitive	2	0	MTRR (1), MTR (1)	0.16667	0.50000	1.821e-6	1.079e-5	
Benign neonatal epilepsy	Malignant migrating partial seizures of infancy	2	2	KCNQ2 (3), SCN2A (2)	0.16667	0.50000	1.821e-6	1.079e-5	
Hypercalciuria	Kidney and ureter calculus	2	2	SLC34A1 (2), CYP24A1 (2)	0.16667	0.50000	1.821e-6	1.079e-5	259
Hyperaldosteronism	Primary aldosteronism	3	1	CACNA1D (3), B3GLCT (1), RXFP2 (1)	0.07895	0.18750	1.838e-6	1.089e-5	
Kawasaki disease	Polymyositis	4	2	TNF (2), HLA-DQB1 (1), BLK (3), FAM167A (1)	0.04819	0.18182	1.877e-6	1.111e-5	22
Brain ischemia	Idiopathic pulmonary fibrosis	6	5	PLAU (2), STAT3 (2), TNF (2), PTGS2 (2), HIF1A (2), CCL13 (1)	0.04082	0.08571	1.893e-6	1.120e-5	
Bare lymphocyte syndrome	Severe combined immunodeficiency	3	0	RFX5 (1), RFXANK (1), TAPBP (1)	0.05263	0.37500	1.895e-6	1.121e-5	
Adenomatous polyposis	Tuberous sclerosis complex	2	2	TSC2 (7), NTHL1 (4)	0.18182	0.33333	1.897e-6	1.122e-5	48
Cervical intraepithelial neoplasia	Cold paroxysmal hemoglobinuria	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.18182	0.33333	1.897e-6	1.122e-5	
Bradycardia	Tremor	3	0	HTR1A (1), TRH (1), CYP2D6 (1)	0.07692	0.20000	1.919e-6	1.134e-5	66
Cystic kidney disease	Urinary system disease	3	0	BCAS3 (1), MAF (1), INVS (1)	0.07692	0.20000	1.919e-6	1.134e-5	
Gm1 gangliosidosis	Mucopolysaccharidosis	2	1	GLB1 (7), TMPPE (1)	0.08696	1.00000	1.949e-6	1.149e-5	
Syndactyly	Triphalangeal thumb-polysyndactyly syndrome	2	2	LMBR1 (4), SHH (3)	0.08696	1.00000	1.949e-6	1.149e-5	
Cenani-lenz syndrome	Syndactyly	2	2	APC (3), LRP4 (6)	0.08696	1.00000	1.949e-6	1.149e-5	
Centronuclear myopathy	X-linked centronuclear myopathy	2	2	MTM1 (2), DNM2 (4)	0.08696	1.00000	1.949e-6	1.149e-5	
Centronuclear myopathy	Malignant hyperthermia	2	2	RYR1 (6), CACNA1S (5)	0.08696	1.00000	1.949e-6	1.149e-5	
Cyclic neutropenia	Severe congenital neutropenia	2	1	CFD (1), ELANE (6)	0.08696	1.00000	1.949e-6	1.149e-5	
congenital heart disease with heterotaxy syndrome	Heterotaxy syndrome	2	2	ZIC3 (6), NODAL (5)	0.08696	1.00000	1.949e-6	1.149e-5	54
Testicular carcinoma	Testicular neoplasms	3	3	DMRT1 (2), ATF7IP (2), KITLG (2)	0.04615	0.42857	1.947e-6	1.149e-5	
Testicular germ cell tumor	Testicular neoplasms	3	3	DMRT1 (2), ATF7IP (2), KITLG (2)	0.04615	0.42857	1.947e-6	1.149e-5	
Larsen syndrome	Skeletal dysplasia	3	2	FGFR3 (1), CSGALNACT1 (5), CHST3 (4)	0.07895	0.17647	1.953e-6	1.151e-5	
Congenital clubfoot	Micrognathism	3	0	BLTP1 (1), PITX1 (1), INPP5E (1)	0.07895	0.17647	1.953e-6	1.151e-5	
Bor syndrome	Congenital abnormalities	2	2	EYA1 (3), SIX1 (3)	0.13333	0.66667	1.973e-6	1.158e-5	134
Deafness, aminoglycoside-induced	Neuropathy, ataxia, and retinitis pigmentosa	2	0	ND1 (1), COX1 (1)	0.13333	0.66667	1.973e-6	1.158e-5	
Activated pi3k-delta syndrome	Agammaglobulinemia	2	2	PIK3CD (2), PIK3R1 (4)	0.13333	0.66667	1.973e-6	1.158e-5	
Dominantly inherited sensory neuropathy	Sensory neuropathy	2	0	DNMT1 (1), SCN11A (1)	0.13333	0.66667	1.973e-6	1.158e-5	
Essential thrombocythemia	Polycythemia, primary familial and congenital	2	2	SH2B3 (3), JAK2 (3)	0.13333	0.66667	1.973e-6	1.158e-5	
Myoclonic epilepsy with ragged red fibers	Progressive external ophthalmoplegia	2	2	IL1A (2), IL1B (2)	0.13333	0.66667	1.973e-6	1.158e-5	26
Mitochondrial hepatopathy	Progressive external ophthalmoplegia	2	2	POLG (3), TWNK (3)	0.13333	0.66667	1.973e-6	1.158e-5	
Intestinal perforation	Raynaud disease	2	1	NOS3 (3), IFNA2 (1)	0.13333	0.66667	1.973e-6	1.158e-5	
Benign mucous membrane pemphigoid with ocular involvement	Optic neuritis	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.13333	0.66667	1.973e-6	1.158e-5	1
Bouillaud’s disease	Optic neuritis	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.13333	0.66667	1.973e-6	1.158e-5	1
Acute disseminated encephalomyelitis	Optic neuritis	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.13333	0.66667	1.973e-6	1.158e-5	1
Benign mucous membrane pemphigoid	Optic neuritis	2	0	HLA-DRB1 (1), HLA-DQB1 (1)	0.13333	0.66667	1.973e-6	1.158e-5	1
Hyperbilirubinemia	Rotor syndrome	2	2	SLCO1B1 (6), SLCO1B3 (6)	0.13333	0.66667	1.973e-6	1.158e-5	256
Hematoma	Intracranial hemorrhage	2	0	PLAT (1), F7 (1)	0.13333	0.66667	1.973e-6	1.158e-5	29
Lipoprotein lipase deficiency	Neoplasms	4	0	FADS1 (1), FADS2 (1), MYRF (1), TMEM258 (1)	0.05405	0.13333	1.970e-6	1.158e-5	
Chorea	Dysarthria	3	0	CACNA1A (1), DNMT1 (1), ADCY5 (1)	0.07895	0.16667	2.037e-6	1.195e-5	
Carcinogenesis	Nasopharyngeal carcinoma	3	0	KRAS (1), ERBB2 (1), CDKN2A (1)	0.07895	0.16667	2.037e-6	1.195e-5	45
Gallbladder neoplasms	Primary aldosteronism	3	1	B3GLCT (1), RXFP2 (1), CCKAR (2)	0.07692	0.18750	2.088e-6	1.224e-5	
Congenital anomalies of the kidney and urinary tract	Congenital hypoplasia of kidney	3	0	PAX2 (1), RET (1), KAT6B (1)	0.05085	0.37500	2.130e-6	1.249e-5	
Anterior segment dysgenesis	Congenital cataract microcornea with corneal opacity	2	2	ATOH7 (3), PXDN (5)	0.08333	1.00000	2.134e-6	1.250e-5	
Congenital clubfoot	Congenital hypoplasia of femur	2	0	PLOD2 (1), INPP5E (1)	0.08333	1.00000	2.134e-6	1.250e-5	
Combined osteogenesis imperfecta and ehlers-danlos syndrome 	Skeletal dysplasia	2	2	COL1A1 (4), COL1A2 (4)	0.08333	1.00000	2.134e-6	1.250e-5	93
Coronary restenosis	Heart valve prolapse	3	1	ACE (2), SPP1 (1), ITGB2 (1)	0.07317	0.21429	2.156e-6	1.263e-5	
Eating disorder	Vascular dementia	7	1	CRBN (1), MACROD2 (1), MGMT (1), NALF1 (1), TMEM106B (2), SORCS2 (1), KCNK5 (1)	0.03608	0.09722	2.188e-6	1.281e-5	75
Endometrial hyperplasia	Penile neoplasms	2	2	TP53 (2), KRAS (2)	0.15385	0.50000	2.276e-6	1.327e-5	
Cecal neoplasms	Endometrial hyperplasia	2	2	CTNNB1 (2), KRAS (2)	0.15385	0.50000	2.276e-6	1.327e-5	
Esotropia	Extrinsic allergic alveolitis	2	1	SOD2 (2), TNF (1)	0.15385	0.50000	2.276e-6	1.327e-5	
Cleft lip and cleft of alveolar process of maxilla	Skin abnormalities	2	2	TP63 (2), IRF6 (2)	0.15385	0.50000	2.276e-6	1.327e-5	
Congenital malformation syndromes predominantly affecting facial appearance	Martsolf syndrome	2	2	RAB3GAP1 (3), RAB3GAP2 (5)	0.15385	0.50000	2.276e-6	1.327e-5	90
Martsolf syndrome	Warburg micro syndrome	2	2	RAB3GAP1 (5), RAB3GAP2 (6)	0.15385	0.50000	2.276e-6	1.327e-5	90
Myelomonocytic leukemia	Neurofibromatosis-noonan syndrome	2	2	NF1 (6), PTPN11 (4)	0.15385	0.50000	2.276e-6	1.327e-5	
Intestinal pseudo-obstruction	Tricuspid valve disease	2	0	MYH11 (1), NDE1 (1)	0.15385	0.50000	2.276e-6	1.327e-5	426
Kidney and ureter calculus	Ureterolithiasis	2	2	RGS14 (2), CYP24A1 (2)	0.15385	0.50000	2.276e-6	1.327e-5	
Iron deficiency anemia	Microcytic anemia	2	2	SLC11A2 (6), TMPRSS6 (2)	0.15385	0.50000	2.276e-6	1.327e-5	
Alport syndrome, x-linked	Leiomyoma	2	2	COL4A5 (4), COL4A6 (2)	0.15385	0.50000	2.276e-6	1.327e-5	91
Goldenhar syndrome	Hemifacial microsomia	2	1	FOXI3 (1), SF3B2 (2)	0.15385	0.50000	2.276e-6	1.327e-5	
Perisylvian syndrome	Tubulinopathy	2	2	TUBB2B (3), TUBA1A (3)	0.15385	0.50000	2.276e-6	1.327e-5	
Cleft lip and cleft of alveolar process of maxilla	Congenital skin anomaly	2	0	TP63 (1), IRF6 (1)	0.15385	0.50000	2.276e-6	1.327e-5	
Craniodiaphyseal dysplasia	Mainzer-saldino disease	2	2	IFT140 (2), WDR19 (6)	0.15385	0.50000	2.276e-6	1.327e-5	
Anti-glomerular basement membrane disease	Berylliosis	2	2	HLA-DRB1 (2), HLA-DPB1 (3)	0.15385	0.50000	2.276e-6	1.327e-5	
Atherosclerosis	Dyslexia	8	8	APOB (3), APOE (3), BCL3 (2), HDAC9 (3), HP (2), ABCG5 (2), AHR (2), CETP (2)	0.03587	0.07207	2.284e-6	1.331e-5	
Avascular necrosis of femoral head	Osteonecrosis of medial femoral condyle	2	2	COL2A1 (5), TRPV4 (5)	0.12500	0.66667	2.302e-6	1.336e-5	
Cerebral sinovenous thrombosis	Osteonecrosis of medial femoral condyle	2	2	F2 (2), F5 (2)	0.12500	0.66667	2.302e-6	1.336e-5	
Achondrogenesis	Spondylometaphyseal dysplasia	2	2	TRIP11 (2), COL2A1 (5)	0.12500	0.66667	2.302e-6	1.336e-5	
Avascular necrosis of femoral head	Spondylometaphyseal dysplasia	2	2	COL2A1 (5), TRPV4 (6)	0.12500	0.66667	2.302e-6	1.336e-5	
Bouillaud’s disease	Rosacea	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.12500	0.66667	2.302e-6	1.336e-5	1
Rosacea	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.12500	0.66667	2.302e-6	1.336e-5	1
Rosacea	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.12500	0.66667	2.302e-6	1.336e-5	1
Dermatitis herpetiformis	Hepatic encephalopathy	2	2	TNF (2), LTA (2)	0.12500	0.66667	2.302e-6	1.336e-5	
Avascular necrosis of bone	Avascular necrosis of femoral head	2	2	COL2A1 (5), TRPV4 (5)	0.12500	0.66667	2.302e-6	1.336e-5	
Avascular necrosis of bone	Cerebral sinovenous thrombosis	2	2	F2 (2), F5 (2)	0.12500	0.66667	2.302e-6	1.336e-5	
Cleft palate and bilateral cleft lip	Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome	2	1	RAB5IF (4), TGIF2-RAB5IF (1)	0.12500	0.66667	2.302e-6	1.336e-5	
Distal myopathy	Multiminicore myopathy	2	2	MYH7 (3), TTN (3)	0.12500	0.66667	2.302e-6	1.336e-5	
Bouillaud’s disease	Cartilage disease	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.12500	0.66667	2.302e-6	1.336e-5	1
Cartilage disease	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.12500	0.66667	2.302e-6	1.336e-5	1
Cartilage disease	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.12500	0.66667	2.302e-6	1.336e-5	1
Andersen-tawil syndrome	Hereditary atrial fibrillation	2	2	KCNJ2 (5), KCNJ5 (2)	0.08000	1.00000	2.328e-6	1.350e-5	
Deficiency anemia	Transcobalamin deficiency	2	2	TCN2 (7), TCN1 (2)	0.08000	1.00000	2.328e-6	1.350e-5	100
Deafness enamel hypoplasia nail defects	Peroxisome biogenesis disorder	2	2	PEX6 (7), PEX1 (6)	0.08000	1.00000	2.328e-6	1.350e-5	141
Deafness-enamel hypoplasia-nail defects syndrome	Peroxisome biogenesis disorder	2	2	PEX6 (8), PEX1 (7)	0.08000	1.00000	2.328e-6	1.350e-5	141
Glucocorticoid-remediable aldosteronism	Hyperaldosteronism	2	2	CYP11B2 (3), CYP11B1 (6)	0.08000	1.00000	2.328e-6	1.350e-5	
Benign prostatic hyperplasia	Lipoma	3	0	TERT (1), BET1L (1), STN1 (1)	0.06667	0.25000	2.334e-6	1.353e-5	138
Aicardi goutieres syndrome	Chilblain lupus erythematosus	2	2	SAMHD1 (5), TREX1 (6)	0.16667	0.40000	2.360e-6	1.367e-5	
Aortic rupture	Ruptured abdominal aortic aneurysm	2	2	FBN1 (2), MMP9 (2)	0.16667	0.40000	2.360e-6	1.367e-5	64
Aortic rupture	Ruptured aortic aneurysm	2	2	FBN1 (2), MMP9 (2)	0.16667	0.40000	2.360e-6	1.367e-5	64
Aortic rupture	Ruptured thoracic aortic aneurysm	2	2	FBN1 (2), MMP9 (2)	0.16667	0.40000	2.360e-6	1.367e-5	64
Dyskinesia	Movement disorder	4	4	PDYN (2), DRD2 (2), OPRM1 (2), GNAO1 (3)	0.05000	0.15385	2.374e-6	1.374e-5	
Iron metabolism disorder	Polycythemia	3	2	HFE (2), JAK2 (3), TMPRSS6 (1)	0.07692	0.15789	2.417e-6	1.398e-5	
Blepharoptosis	Centronuclear myopathy	3	1	RYR1 (3), CHRND (1), OPA1 (1)	0.07692	0.15789	2.417e-6	1.398e-5	
Seborrheic dermatitis	Uveal melanoma	4	0	HERC2 (1), IRF4 (1), SGPL1 (1), UNC5B (1)	0.05405	0.10811	2.423e-6	1.402e-5	263
Bone neoplasms	Oral submucous fibrosis	3	3	PTGS2 (2), MMP9 (2), MMP2 (2)	0.07692	0.15000	2.455e-6	1.420e-5	
Sarcoma	Senile cataract	3	3	ERCC2 (2), GSTP1 (2), ATM (2)	0.06818	0.23077	2.528e-6	1.461e-5	
Cowchock syndrome	Spondyloepimetaphyseal dysplasia	2	1	AIFM1 (4), RAB33A (1)	0.07692	1.00000	2.531e-6	1.462e-5	
Gallbladder neoplasms	Soft tissue neoplasms	2	1	ERBB4 (2), EPHB1 (1)	0.07692	1.00000	2.531e-6	1.462e-5	312
Anophthalmia/microphthalmia-esophageal atresia syndrome	Colobomatous optic disc macular atrophy chorioretinopathy syndrome	2	1	SIX6 (4), C14orf39 (1)	0.07692	1.00000	2.531e-6	1.462e-5	52
Cortical dysplasia with other brain malformations	Polymicrogyria	3	3	DYNC1H1 (3), ADGRG1 (4), TUBB2B (4)	0.07500	0.17647	2.533e-6	1.463e-5	
Bone fracture	Dupuytren contracture	6	0	FMN2 (1), RAB31 (1), CHSY1 (1), SFRP4 (1), STARD3NL (1), PRKAR1B (1)	0.03947	0.08824	2.581e-6	1.490e-5	303
Epidermal nevus	Urinary bladder cancer	3	3	FGFR3 (4), KRAS (2), HRAS (3)	0.04225	0.42857	2.601e-6	1.501e-5	
Brain infarction	Proteinuria	4	4	APOE (2), HLA-DQA1 (2), CYBB (2), ALOX5AP (2)	0.05333	0.11111	2.643e-6	1.525e-5	
Cockayne syndrome	Testicular neoplasms	2	2	ERCC1 (3), ERCC4 (3)	0.16667	0.33333	2.655e-6	1.527e-5	
Congenital cystic eyeball	Klippel-feil syndrome	2	2	GDF6 (5), GDF3 (5)	0.16667	0.33333	2.655e-6	1.527e-5	52
Chiari-frommel syndrome	Pituitary neoplasms	2	2	PRL (2), DRD2 (2)	0.16667	0.33333	2.655e-6	1.527e-5	118
46,xx ovotesticular disorder of sex development	46,xy sex reversal	2	0	NR5A1 (1), SRY (1)	0.16667	0.33333	2.655e-6	1.527e-5	
46,xy disorder of sex developmen	Disorders of sex development	2	2	AKR1C2 (3), HSD17B3 (3)	0.16667	0.33333	2.655e-6	1.527e-5	363
Adenomatous polyposis	Focal cortical dysplasia	2	2	TSC2 (3), NTHL1 (4)	0.16667	0.33333	2.655e-6	1.527e-5	48
Megacystis microcolon intestinal hypoperistalsis syndrome	Visceral neuropathy	2	1	NDE1 (1), ACTG2 (6)	0.16667	0.33333	2.655e-6	1.527e-5	426
Rickets	Vitamin d dependent rickets	2	2	VDR (5), CYP27B1 (5)	0.16667	0.33333	2.655e-6	1.527e-5	342
Bone osteosarcoma	Hereditary breast and ovarian cancer syndrome	2	2	CHEK2 (2), TP53 (2)	0.11765	0.66667	2.656e-6	1.527e-5	
Intracranial aneurysm	Intracranial arteriovenous malformation	2	1	IL6 (2), ENG (1)	0.11765	0.66667	2.656e-6	1.527e-5	
Macular telangiectasia	neurometabolic disorder due to serine deficiency	2	2	PHGDH (2), PSPH (2)	0.11765	0.66667	2.656e-6	1.527e-5	
Mitochondrial myopathy	Myoclonic epilepsy with ragged red fibers	2	2	IL1A (2), IL1B (2)	0.11765	0.66667	2.656e-6	1.527e-5	26
Concentric hypertrophic cardiomyopathy	Polymorphic catecholaminergic ventricular tachycardia	2	0	CACNA1C (1), MYBPC3 (1)	0.11765	0.66667	2.656e-6	1.527e-5	
Congenital afibrinogenemia	Cor pulmonale	2	2	FGA (3), FGG (2)	0.11765	0.66667	2.656e-6	1.527e-5	156
Congenital fibrosis of extraocular muscles	Cortical development malformation	3	3	HRAS (2), TUBB2B (4), TUBA1A (2)	0.07317	0.18750	2.652e-6	1.527e-5	144
Maffucci syndrome	Promyelocytic leukemia	3	3	IDH2 (3), IDH1 (4), PTPN11 (2)	0.05263	0.33333	2.669e-6	1.534e-5	
Mitochondrial dna depletion syndrome	Mitochondrial myopathy	3	3	RRM2B (6), SLC25A4 (6), TK2 (6)	0.07143	0.20000	2.692e-6	1.546e-5	
Leukodystrophy	Tremor-ataxia-central hypomyelination syndrome	2	1	POLR3B (1), POLR3A (2)	0.07407	1.00000	2.742e-6	1.574e-5	59
Cowchock syndrome	Leukodystrophy	2	1	AIFM1 (2), RAB33A (1)	0.07407	1.00000	2.742e-6	1.574e-5	
Amino acid metabolism disorder	propionic acidemia	2	2	PCCA (2), PCCB (2)	0.07407	1.00000	2.742e-6	1.574e-5	112
Congenital stationary night blindness	Retinal degeneration	3	3	PDE6B (4), RHO (4), GNAT1 (4)	0.06383	0.25000	2.768e-6	1.589e-5	
Leopard syndrome	Neurofibromatosis-noonan syndrome	2	2	PTPN11 (5), MAP2K2 (2)	0.14286	0.50000	2.782e-6	1.591e-5	
Macrothrombocytopenia	Thrombasthenia	2	2	ITGB3 (3), ITGA2B (3)	0.14286	0.50000	2.782e-6	1.591e-5	67
Autoimmune polyendocrine syndrome	Gastroparesis	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.14286	0.50000	2.782e-6	1.591e-5	1
Esophageal achalasia	Gastroparesis	2	2	HLA-DQA1 (3), HLA-DQB1 (3)	0.14286	0.50000	2.782e-6	1.591e-5	1
Gastroparesis	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.14286	0.50000	2.782e-6	1.591e-5	1
Paroxysmal atrial fibrillation	Short qt syndrome	2	2	KCNQ1 (6), CACNA2D1 (2)	0.14286	0.50000	2.782e-6	1.591e-5	
Melanocytic nevus	Penile neoplasms	2	2	TP53 (2), HRAS (2)	0.14286	0.50000	2.782e-6	1.591e-5	17
Anhydramnios	Caroli disease	2	2	PKD1 (2), PKHD1 (3)	0.14286	0.50000	2.782e-6	1.591e-5	74
Anterior polar cataract	Lamellar cataract	2	2	CRYAA (2), CRYGB (2)	0.14286	0.50000	2.782e-6	1.591e-5	51
Autoimmune polyendocrine syndrome	Cutaneous lupus erythematosus	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.14286	0.50000	2.782e-6	1.591e-5	1
Cardiovascular abnormalities	Paroxysmal atrial fibrillation	2	0	KCNQ1 (1), MYBPC3 (1)	0.14286	0.50000	2.782e-6	1.591e-5	
Secondary malignant neoplasm	Systemic mastocytosis	3	0	HBE1 (1), HBG2 (1), OR51B5 (1)	0.07500	0.15789	2.777e-6	1.591e-5	237
Retinopathy of prematurity	Syndactyly	3	2	GLI3 (2), IHH (1), FZD4 (3)	0.07500	0.15000	2.841e-6	1.625e-5	189
Generalized epilepsy	Myoclonic epilepsy	4	3	GABRA2 (1), JRK (3), SCN1A (3), CACNB4 (3)	0.04651	0.16667	2.884e-6	1.649e-5	
Congenital epicanthus	Esophageal atresia	3	0	ATP1A3 (1), TCF4 (1), KCNA6 (1)	0.06818	0.21429	2.922e-6	1.670e-5	196
Eating disorder	Willis-ekbom disease	8	0	ASB3 (1), CRBN (1), MGMT (1), ROBO2 (1), SEMA6D (1), SUMF1 (1), CADM1 (1), LRMDA (1)	0.03125	0.11111	2.940e-6	1.680e-5	
Methylmalonic acidemia	methylmalonic aciduria and homocystinuria	2	2	ZNF143 (2), THAP11 (5)	0.07143	1.00000	2.961e-6	1.692e-5	198
Ataxia with oculomotor apraxia	Spinocerebellar ataxia	3	3	SETX (6), APTX (5), PIK3R5 (6)	0.02804	0.60000	2.964e-6	1.693e-5	
Polycythemia vera	Thalassemia	2	2	HBA1 (2), HBB (2)	0.15385	0.40000	3.034e-6	1.724e-5	24
Intracranial thrombosis	Von willebrand disorder	2	2	PLAT (2), VWF (8)	0.15385	0.40000	3.034e-6	1.724e-5	
Immunodeficiency-centromeric instability-facial anomalies syndrome	Kabuki syndrome	2	2	DNMT3B (2), ZBTB24 (2)	0.15385	0.40000	3.034e-6	1.724e-5	
Chordoma	Maffucci syndrome	2	2	IDH2 (3), IDH1 (4)	0.15385	0.40000	3.034e-6	1.724e-5	
Glucose-6-phosphate dehydrogenase deficiency	Granulomatous disease	2	1	G6PD (4), IFNG (1)	0.15385	0.40000	3.034e-6	1.724e-5	12
Cardiac conduction disease	Paroxysmal familial ventricular fibrillation	2	1	LMNA (1), SCN5A (2)	0.15385	0.40000	3.034e-6	1.724e-5	3
Charge syndrome	Choanal atresia syndrome	2	2	KMT2D (4), CHD7 (7)	0.15385	0.40000	3.034e-6	1.724e-5	
Chondrosarcoma	Extraskeletal myxoid chondrosarcoma	2	2	TAF15 (4), NR4A3 (4)	0.15385	0.40000	3.034e-6	1.724e-5	
Anencephaly	Coach syndrome	2	2	CC2D2A (3), RPGRIP1L (3)	0.15385	0.40000	3.034e-6	1.724e-5	
Bernard-soulier syndrome	Von willebrand disorder	2	2	VWF (8), GP1BA (8)	0.15385	0.40000	3.034e-6	1.724e-5	
Disruptive impulse-control and conduct disorder	Hyperproinsulinemia	2	2	PRL (2), DRD2 (2)	0.15385	0.40000	3.034e-6	1.724e-5	118
Cerebral thrombosis	Hemophilia a	2	0	PLAT (1), VWF (1)	0.11111	0.66667	3.035e-6	1.724e-5	
Hydrops fetalis	Parkes weber syndrome	2	1	RASA1 (4), CCNH (1)	0.11111	0.66667	3.035e-6	1.724e-5	65
Bruxism	Rett syndrome	2	2	CDKL5 (4), MECP2 (7)	0.11111	0.66667	3.035e-6	1.724e-5	55
Arachnoid cysts	Rett syndrome	2	0	GPHN (1), PALS1 (1)	0.11111	0.66667	3.035e-6	1.724e-5	
Bouillaud’s disease	Thyroiditis	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.11111	0.66667	3.035e-6	1.724e-5	1
Skeletal system disease	Thyroiditis	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.11111	0.66667	3.035e-6	1.724e-5	1
Thyroiditis	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.11111	0.66667	3.035e-6	1.724e-5	1
Bouillaud’s disease	Lymphedema	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.11111	0.66667	3.035e-6	1.724e-5	1
Lymphedema	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.11111	0.66667	3.035e-6	1.724e-5	1
Lymphedema	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.11111	0.66667	3.035e-6	1.724e-5	1
Hypertriglyceridemia	Infantile hypertriglyceridemia with hepatosteatosis	2	2	CREB3L3 (5), GPD1 (6)	0.06897	1.00000	3.189e-6	1.811e-5	57
Gonadal dysgenesis	Xq27.3 q28 duplication syndrome	2	1	CLPP (1), FMR1 (3)	0.06897	1.00000	3.189e-6	1.811e-5	
Esophageal disease	Thyroid disease	4	0	SAMD5 (1), SASH1 (1), ATXN2 (1), CLNK (1)	0.05000	0.13333	3.208e-6	1.821e-5	
Avascular necrosis of bone	Hypoxia	3	3	NOS3 (2), PLAT (2), TFPI (2)	0.06667	0.21429	3.212e-6	1.823e-5	23
Hypoxia	Osteonecrosis of medial femoral condyle	3	3	NOS3 (2), PLAT (2), TFPI (2)	0.06667	0.21429	3.212e-6	1.823e-5	23
Leopard syndrome	Leukemia	3	3	PTEN (2), PPP1R13L (2), PTPN11 (5)	0.05769	0.27273	3.295e-6	1.869e-5	
Leukemia	Prostatic intraepithelial neoplasia	3	0	PTEN (1), ESR1 (1), AR (1)	0.05769	0.27273	3.295e-6	1.869e-5	
Congestive ophthalmopathy	T-cell leukemia-lymphoma	3	3	IL10 (2), IL2 (2), CTLA4 (2)	0.06383	0.23077	3.303e-6	1.872e-5	153
Myopathic ophthalmopathy	T-cell leukemia-lymphoma	3	3	IL10 (2), IL2 (2), CTLA4 (2)	0.06383	0.23077	3.303e-6	1.872e-5	153
Neoplasms	Triple negative breast cancer	4	0	TERT (1), TP53 (1), MDM4 (1), SLC6A18 (1)	0.05128	0.11765	3.304e-6	1.872e-5	
Gastro-entero-pancreatic neuroendocrine tumor	Selective iga deficiency disease	3	3	GATA3 (2), IKZF3 (2), CD86 (2)	0.06818	0.20000	3.307e-6	1.873e-5	
Dermatomyositis	Mitochondrial myopathy	3	3	IL1A (2), IL1B (2), TNF (2)	0.06818	0.20000	3.307e-6	1.873e-5	
Congenital secretory diarrhea	Intestinal obstruction	2	2	SLC9A3 (4), SLC26A3 (3)	0.13333	0.50000	3.338e-6	1.889e-5	
Atrioventricular septal defect	Yorifuji okuno syndrome	2	2	GATA4 (5), GATA6 (6)	0.13333	0.50000	3.338e-6	1.889e-5	106
Autoimmune polyendocrine syndrome	Latent autoimmune diabetes in adults	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.13333	0.50000	3.338e-6	1.889e-5	1
Combined osteogenesis imperfecta and ehlers-danlos syndrome 	Heart valve prolapse	2	2	COL1A1 (4), COL1A2 (4)	0.06667	1.00000	3.425e-6	1.937e-5	
Cobblestone lissencephaly	Macrogyria	2	2	LAMB1 (5), TMTC3 (2)	0.06667	1.00000	3.425e-6	1.937e-5	
Anhedonia	Anorexia	3	3	CRH (2), CRHR1 (2), CRHR2 (2)	0.07143	0.16667	3.429e-6	1.939e-5	
Desbuquois dysplasia	Larsen syndrome	2	2	XYLT1 (5), CANT1 (5)	0.10526	0.66667	3.440e-6	1.943e-5	
Atrioventricular block	Right ventricular cardiomyopathy	2	1	LMNA (3), TTN (1)	0.10526	0.66667	3.440e-6	1.943e-5	
Cortical dysplasia with other brain malformations	lissencephaly spectrum disorders	2	2	TUBG1 (4), APC2 (5)	0.10526	0.66667	3.440e-6	1.943e-5	144
Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome	Micrognathism	2	1	RAB5IF (4), TGIF2-RAB5IF (1)	0.10526	0.66667	3.440e-6	1.943e-5	
Brain aneurysm	Carotid atherosclerosis	3	0	LINGO2 (1), CFDP1 (1), EDNRA (1)	0.03297	0.50000	3.442e-6	1.944e-5	
Medulloblastoma	Sarcoma	4	2	APC (2), FLI1 (1), BRCA2 (4), PRAME (1)	0.05063	0.12121	3.460e-6	1.954e-5	
Kidney neoplasms	Papilloma	3	0	SOD2 (1), PTGS2 (1), CCND1 (1)	0.06000	0.25000	3.515e-6	1.984e-5	
Eye neoplasms	Uveal melanoma	3	0	HERC2 (1), OCA2 (1), IRF4 (1)	0.06000	0.25000	3.515e-6	1.984e-5	
Posterior polar cataract	Sutural cataract	2	2	MIP (3), CRYBA1 (2)	0.15385	0.33333	3.539e-6	1.994e-5	51
Calcium metabolism disorders	Hypocalcemia	2	2	GNA11 (6), CASR (7)	0.15385	0.33333	3.539e-6	1.994e-5	
Eyelid disease	Visual impairment	2	0	EFEMP1 (1), PNPT1 (1)	0.15385	0.33333	3.539e-6	1.994e-5	152
Cervical intraepithelial neoplasia	Obstructive asthma	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.15385	0.33333	3.539e-6	1.994e-5	1
C1 esterase inhibitor deficiency	Complement pathway abnormality	2	0	C2 (1), C4B (1)	0.15385	0.33333	3.539e-6	1.994e-5	
Aortic arch syndrome	Pemphigus	2	1	HLA-DRB1 (2), IL2 (1)	0.15385	0.33333	3.539e-6	1.994e-5	
Cryptogenic west syndrome	Tuberous sclerosis complex	2	2	TSC2 (7), TSC1 (7)	0.15385	0.33333	3.539e-6	1.994e-5	
Cutaneous mastocytosis	Sickle cell anemia	3	2	HBE1 (2), HBG2 (2), OR51B5 (1)	0.06977	0.17647	3.600e-6	2.027e-5	237
Gaucher disease	Hereditary parkinson disease	3	3	SNCA (4), PSAP (7), GBA1 (7)	0.06977	0.17647	3.600e-6	2.027e-5	114
Conotruncal cardiac defect	Double outlet right ventricle	3	3	ZFPM2 (2), NKX2-5 (5), GDF1 (2)	0.04348	0.37500	3.602e-6	2.028e-5	
Clear cell renal cell carcinoma	Urinary bladder cancer	5	0	TERT (1), CDKAL1 (1), MAD1L1 (1), MYNN (1), ACTRT3 (1)	0.04274	0.09091	3.656e-6	2.057e-5	
Hypomyelinating leukodystrophy	Tremor-ataxia-central hypomyelination syndrome	2	2	POLR3B (5), POLR3A (4)	0.06452	1.00000	3.670e-6	2.064e-5	59
Cerebellar atrophy	Periodic paralysis	2	0	ATP6 (1), TBC1D24 (1)	0.06452	1.00000	3.670e-6	2.064e-5	
Hepatocellular carcinoma	Polycystic ovary syndrome	26	24	AKR1C2 (2), CSMD1 (2), FST (2), YAP1 (2), PPARG (2), RUNX3 (2), RACGAP1 (2), CYP1A1 (2), ANLN (2), ASPM (2), CD274 (2), AZGP1 (3)	0.03055	0.11454	3.672e-6	2.065e-5	72
Appendicitis	Hemophilia a	3	2	F2 (1), IL10 (2), IFNG (2)	0.06818	0.18750	3.674e-6	2.065e-5	
Gingival diseases	Prostatic hyperplasia	2	2	PDGFB (2), FGF7 (2)	0.15385	0.28571	3.716e-6	2.086e-5	334
Focal cortical dysplasia	Hemimegalencephaly	2	1	MTOR (4), RHEB (1)	0.15385	0.28571	3.716e-6	2.086e-5	
Hepatic veno occlusive disease	Porphyria cutanea tarda	2	1	HFE (2), GSTM1 (1)	0.15385	0.28571	3.716e-6	2.086e-5	251
Hereditary hemorrhagic telangiectasia	Klippel-trenaunay syndrome	2	0	RASA1 (1), CCNH (1)	0.15385	0.28571	3.716e-6	2.086e-5	65
Epidermal nevus	Nonmedullary thyroid cancer	2	2	NRAS (4), HRAS (4)	0.15385	0.28571	3.716e-6	2.086e-5	17
Epidermal nevus	Follicular thyroid cancer	2	2	NRAS (3), HRAS (3)	0.15385	0.28571	3.716e-6	2.086e-5	17
Endometrial hyperplasia	Li-fraumeni syndrome	2	2	TP53 (7), CDKN2A (2)	0.14286	0.40000	3.792e-6	2.123e-5	45
Glucose-6-phosphate dehydrogenase deficiency	Pleural diseases	2	2	IL6 (2), IFNG (2)	0.14286	0.40000	3.792e-6	2.123e-5	12
Brain edema	Visceral myopathy	2	2	MYLK (2), MYL9 (2)	0.14286	0.40000	3.792e-6	2.123e-5	
Intervertebral disc disease	Intervertebral disc displacement	2	2	COL11A1 (3), THBS2 (3)	0.14286	0.40000	3.792e-6	2.123e-5	
Apert syndrome	Martsolf syndrome	2	2	RAB3GAP1 (3), RAB3GAP2 (5)	0.14286	0.40000	3.792e-6	2.123e-5	90
Myelomonocytic leukemia	noonan syndrome with multiple lentigines	2	2	NRAS (2), PTPN11 (4)	0.14286	0.40000	3.792e-6	2.123e-5	49
Beckwith-wiedemann syndrome	Sotos syndrome	2	1	NSD1 (8), PIK3CA (1)	0.14286	0.40000	3.792e-6	2.123e-5	
Beckwith-wiedemann syndrome	Weaver syndrome	2	1	NSD1 (4), PIK3CA (1)	0.14286	0.40000	3.792e-6	2.123e-5	
Bilateral microphthalmos	Martsolf syndrome	2	1	ARHGAP35 (1), RAB3GAP1 (3)	0.14286	0.40000	3.792e-6	2.123e-5	
Delirium	Disruptive impulse-control and conduct disorder	2	2	DRD2 (2), DRD3 (2)	0.14286	0.40000	3.792e-6	2.123e-5	118
Alcoholic hepatitis	Esotropia	2	1	TNF (2), CXCL8 (1)	0.14286	0.40000	3.792e-6	2.123e-5	43
Myelomonocytic leukemia	Promyelocytic leukemia	3	3	NRAS (2), PTPN11 (4), ASXL1 (2)	0.05172	0.30000	3.805e-6	2.129e-5	
Diabetic ketoacidosis	Permanent neonatal diabetes mellitus	3	3	INS (7), INS-IGF2 (2), SLC2A2 (3)	0.06383	0.21429	3.849e-6	2.154e-5	35
Bulbar palsy	Gross motor development delay	2	0	CACNA1A (1), MECP2 (1)	0.10000	0.66667	3.869e-6	2.162e-5	55
Gross motor development delay	Multiminicore myopathy	2	2	MYH7 (2), TTN (2)	0.10000	0.66667	3.869e-6	2.162e-5	
Hematologic disease	Hepatic vein thrombosis	2	2	MTHFR (2), JAK2 (2)	0.10000	0.66667	3.869e-6	2.162e-5	
Hematologic disease	Malnutrition	2	2	MTHFR (2), MTR (2)	0.10000	0.66667	3.869e-6	2.162e-5	
Avascular necrosis of femoral head	Spondyloepiphyseal dysplasia	2	2	COL2A1 (8), TRPV4 (6)	0.10000	0.66667	3.869e-6	2.162e-5	
Non-syndromic cataract	Nuclear cataract	2	2	EPHA2 (3), CRYBB3 (3)	0.10000	0.66667	3.869e-6	2.162e-5	51
Osteonecrosis of the femoral head	Thrombophilia	4	3	F2 (6), PLAT (3), F5 (6), TFPI (1)	0.04938	0.12500	3.877e-6	2.165e-5	
Ischemic stroke	Vascular dementia	6	3	APOE (2), TOMM40 (2), MTHFR (1), PON2 (1), TNF (1), PRKCH (2)	0.03448	0.11765	3.889e-6	2.171e-5	
Auditory neuropathy	Brown-vialetto-van laere syndrome	2	2	SLC52A3 (6), SLC52A2 (6)	0.06250	1.00000	3.923e-6	2.189e-5	
adult neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinosis	2	2	CTSF (8), DNAJC5 (6)	0.06250	1.00000	3.923e-6	2.189e-5	191
Extrinsic allergic alveolitis	Hyperbilirubinemia	2	1	SOD2 (1), TNF (2)	0.12500	0.50000	3.944e-6	2.198e-5	
Homocystinuria with megaloblastic anemia	Hyperhomocysteinemia	2	2	MTRR (3), MTR (2)	0.12500	0.50000	3.944e-6	2.198e-5	155
Arteritis	Occupational disease	2	2	PON1 (2), CYP1A1 (2)	0.12500	0.50000	3.944e-6	2.198e-5	
Senile cataract	Ureteral calculi	2	2	CAT (2), GSTP1 (2)	0.12500	0.50000	3.944e-6	2.198e-5	
Congenital pain insensitivity	Sensory neuropathy	2	0	NGF (1), SCN11A (1)	0.12500	0.50000	3.944e-6	2.198e-5	
Diffuse large b-cell lymphoma	Follicular lymphoma	3	1	BCL2 (2), NCOA5 (1), EXOC6 (1)	0.04688	0.33333	3.977e-6	2.216e-5	
Hereditary breast and ovarian cancer syndrome	Sarcoma	3	3	TP53 (3), ATM (2), BRCA2 (4)	0.06522	0.20000	4.010e-6	2.234e-5	
Hyperplasia	Primary aldosteronism	3	0	B3GLCT (1), RXFP2 (1), NDP (1)	0.06667	0.18750	4.065e-6	2.263e-5	116
Endometrial neoplasms	Polycystic ovary syndrome	11	8	BCL11A (3), CACNA2D3 (1), MSH6 (2), CYP19A1 (3), PPARG (1), AOPEP (1), AKR1C3 (2), MGAT5B (3), AKR1C1 (2), STAR (2), SRSF10 (2)	0.03152	0.08333	4.065e-6	2.263e-5	72
Congenital aniridia	Wilms tumor	2	2	WT1 (5), PAX6 (2)	0.06061	1.00000	4.184e-6	2.326e-5	
Osteopathia striata with cranial sclerosis	Wilms tumor	2	2	CTNNB1 (3), AMER1 (6)	0.06061	1.00000	4.184e-6	2.326e-5	81
Aplastic anemia	Erythroid hypoplasia	2	0	DIPK1A (1), RPL5 (1)	0.06061	1.00000	4.184e-6	2.326e-5	
Aplastic anemia	Ovarian agenesis	2	0	DIPK1A (1), RPL5 (1)	0.06061	1.00000	4.184e-6	2.326e-5	
Congenital hereditary endothelial dystrophy	Corneal dystrophy	2	2	OVOL2 (4), SLC4A11 (6)	0.06061	1.00000	4.184e-6	2.326e-5	87
Congenital stromal corneal dystrophy	Corneal dystrophy	2	2	DCN (6), SPARCL1 (3)	0.06061	1.00000	4.184e-6	2.326e-5	87
Corneal dystrophy	Corneal endothelial dystrophy	2	2	SLC4A11 (6), KRT3 (4)	0.06061	1.00000	4.184e-6	2.326e-5	87
Corneal neovascularization	Diabetic angiopathies	3	2	SERPINF1 (2), VEGFA (2), IL1RN (1)	0.06818	0.16667	4.315e-6	2.396e-5	
Corneal neovascularization	Diabetic peripheral angiopathy	3	1	SERPINF1 (1), VEGFA (2), IL1RN (1)	0.06818	0.16667	4.315e-6	2.396e-5	
Dyslipidemias	Hypertriglyceridemia	3	3	LPL (3), PPARA (2), PLTP (2)	0.06818	0.16667	4.315e-6	2.396e-5	57
Hyperparathyroidism	Hypoparathyroidism	2	2	PTH (3), GCM2 (6)	0.09524	0.66667	4.324e-6	2.399e-5	
Erythromelalgia	Hereditary sensory and autonomic neuropathy	2	2	SCN11A (6), SCN9A (6)	0.09524	0.66667	4.324e-6	2.399e-5	
Diencephalic mesencephalic junction dysplasia	Marshall syndrome	2	1	PCDH12 (5), RNF14 (1)	0.09524	0.66667	4.324e-6	2.399e-5	
B-lymphoblastic leukemia/lymphoma	Myelogenous leukemia	2	2	BCR (2), ABL1 (2)	0.09524	0.66667	4.324e-6	2.399e-5	
Burkitt lymphoma	Clonal cytopenia of undetermined significance	2	2	RUNX1 (2), ARID1A (2)	0.09524	0.66667	4.324e-6	2.399e-5	
Leukemia	Lipoma	3	0	PTEN (1), BAP1 (1), ACTRT3 (1)	0.05660	0.25000	4.385e-6	2.432e-5	
Hypercapnia	Hypoxia	2	0	PDYN (1), NPPA (1)	0.05882	1.00000	4.454e-6	2.469e-5	
Peeling skin syndrome with leukonychia and acral punctate keratoses	Uveitis	2	2	CAST (7), ERAP1 (2)	0.05882	1.00000	4.454e-6	2.469e-5	
Hypercalciuria	Hypocalcemia	2	2	POMC (2), PTH (2)	0.14286	0.33333	4.550e-6	2.517e-5	
Hyperproinsulinemia	Pituitary neoplasms	2	2	PRL (2), DRD2 (2)	0.14286	0.33333	4.550e-6	2.517e-5	118
Curling ulcer	Hepatic insufficiency	2	2	TGFB1 (2), NOS2 (2)	0.14286	0.33333	4.550e-6	2.517e-5	
Benign infantile epilepsy	Epilepsy of infancy with migrating focal seizures	2	2	KCNQ2 (3), SCN2A (3)	0.14286	0.33333	4.550e-6	2.517e-5	
Benign infantile epilepsy	Malignant migrating partial seizures of infancy	2	2	KCNQ2 (3), SCN2A (2)	0.14286	0.33333	4.550e-6	2.517e-5	
Congenital joint contractures	Contracture of multiple joints	2	0	COL6A3 (1), GLDN (1)	0.14286	0.33333	4.550e-6	2.517e-5	
Cataract-microcornea syndrome	Sutural cataract	2	2	CRYBB2 (3), GJA8 (4)	0.14286	0.33333	4.550e-6	2.517e-5	51
Kidney neoplasms	Optic neuritis	3	3	ATP7B (2), GSTT1 (2), SOD2 (2)	0.05882	0.23077	4.562e-6	2.523e-5	
Diamond-blackfan anemia	Pancytopenia	3	3	IKZF1 (4), EPO (4), RPL17 (2)	0.06122	0.21429	4.565e-6	2.525e-5	
Bestrophinopathy	Distal myopathy	2	2	BEST1 (7), PRPH2 (2)	0.11765	0.50000	4.601e-6	2.539e-5	
Bicuspid aortic valve	Keratosis palmoplantaris striata	2	2	DSP (5), DSG1 (2)	0.11765	0.50000	4.601e-6	2.539e-5	
Bronchial hyperreactivity	Overactive bladder	2	2	NGF (2), TRPA1 (2)	0.11765	0.50000	4.601e-6	2.539e-5	
Congenital epicanthus	Macrocytic anemia	2	0	RPL17 (1), RPL17-C18orf32 (1)	0.11765	0.50000	4.601e-6	2.539e-5	
Autoimmune polyendocrine syndrome	Cartilage disease	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.11765	0.50000	4.601e-6	2.539e-5	1
Cleft palate and bilateral cleft lip	Congenital fusion of ribs	2	0	RAB5IF (1), TGIF2-RAB5IF (1)	0.11765	0.50000	4.601e-6	2.539e-5	
Anti-glomerular basement membrane disease	Granulomatosis with polyangiitis	2	2	HLA-DPB1 (3), CTLA4 (2)	0.11765	0.50000	4.601e-6	2.539e-5	
Bestrophinopathy	Neurodegeneration with brain iron accumulation	2	2	BEST1 (7), FTH1 (5)	0.11765	0.50000	4.601e-6	2.539e-5	
Macrocytic anemia	Pancytopenia	2	0	RPL17 (1), RPL17-C18orf32 (1)	0.11765	0.50000	4.601e-6	2.539e-5	
Bernard-soulier syndrome	Macrothrombocytopenia	2	2	GP1BB (7), GP1BA (8)	0.13333	0.40000	4.634e-6	2.555e-5	
Trichothiodystrophy	Xeroderma pigmentosum-cockayne syndrome	2	2	ERCC2 (5), ERCC3 (7)	0.13333	0.40000	4.634e-6	2.555e-5	113
Arthrogryposis	Sheldon-hall syndrome	2	2	MYH3 (2), TPM2 (3)	0.13333	0.40000	4.634e-6	2.555e-5	258
Bell's palsy	Nervous system disease	5	1	CDC5L (1), FARP1 (1), GRIK2 (1), SUPT3H (1), SLC2A1 (3)	0.04167	0.08929	4.641e-6	2.558e-5	304
Dandy-walker syndrome	Hydrocephalus	3	0	PDGFRB (1), BLTP1 (1), DPH1 (1)	0.06818	0.15000	4.780e-6	2.634e-5	
Retinopathy of prematurity	Urethral obstruction	3	3	AGT (2), SERPINE1 (2), NOS3 (2)	0.06818	0.15000	4.780e-6	2.634e-5	
Hoarding disorder	Pericardium disorder	2	0	LRRC3B (1), NEK10 (1)	0.09091	0.66667	4.805e-6	2.645e-5	279
Amyloid neuropathy	Splenomegaly	2	2	APP (2), PSEN1 (2)	0.09091	0.66667	4.805e-6	2.645e-5	
Schimmelpenning-feuerstein-mims syndrome	Splenomegaly	2	2	KRAS (2), NRAS (2)	0.09091	0.66667	4.805e-6	2.645e-5	17
Dandy-walker syndrome	Hydrolethalus syndrome	2	1	HYLS1 (7), PUS3 (1)	0.09091	0.66667	4.805e-6	2.645e-5	
Hyperkinesia	Seasonal affective disorder	3	3	NPY (2), HTR2A (2), HTR2C (2)	0.06383	0.18750	4.928e-6	2.710e-5	
Generalized epilepsy with febrile seizures plus	Temporal lobe epilepsy	3	2	ANO4 (1), CPA6 (4), RELN (2)	0.06383	0.18750	4.928e-6	2.710e-5	
Gliosarcoma	Transitional cell carcinoma	3	3	FGFR3 (2), TP53 (2), TACC3 (2)	0.06383	0.18750	4.928e-6	2.710e-5	
Coffin-siris syndrome	Pituitary stalk interruption syndrome	3	3	ARID1B (7), SMARCA2 (2), SOX11 (4)	0.06522	0.17647	4.929e-6	2.710e-5	
Breast disease	Congenital hand deformities	2	2	TP63 (2), PTHLH (2)	0.14286	0.28571	4.954e-6	2.715e-5	30
Capillary malformation-arteriovenous malformation	Congenital venous anomaly	2	1	EPHB4 (5), KRAS (1)	0.14286	0.28571	4.954e-6	2.715e-5	
Cryptogenic west syndrome	Focal cortical dysplasia	2	2	TSC2 (3), TSC1 (3)	0.14286	0.28571	4.954e-6	2.715e-5	
Hepatic veno occlusive disease	Mucositis	2	2	MTHFR (2), CSF3 (2)	0.14286	0.28571	4.954e-6	2.715e-5	
Capillary malformation-arteriovenous malformation	Hereditary hemorrhagic telangiectasia	2	1	RASA1 (6), CCNH (1)	0.14286	0.28571	4.954e-6	2.715e-5	65
Ruptured abdominal aortic aneurysm	Varicose veins	2	0	ELN (1), MMP9 (1)	0.14286	0.28571	4.954e-6	2.715e-5	64
Ruptured aortic aneurysm	Varicose veins	2	0	ELN (1), MMP9 (1)	0.14286	0.28571	4.954e-6	2.715e-5	64
Ruptured thoracic aortic aneurysm	Varicose veins	2	0	ELN (1), MMP9 (1)	0.14286	0.28571	4.954e-6	2.715e-5	64
Thoracoabdominal aortic aneurysm	Varicose veins	2	0	ELN (1), MMP9 (1)	0.14286	0.28571	4.954e-6	2.715e-5	64
Extravasation of diagnostic and therapeutic materials	Occupational dermatitis	2	2	KNG1 (2), BDKRB2 (2)	0.14286	0.28571	4.954e-6	2.715e-5	
Klippel-feil syndrome	Spondylocostal dysostosis	2	1	RIPPLY2 (7), RIPPLY2-CYB5R4 (1)	0.14286	0.28571	4.954e-6	2.715e-5	
Prader-willi syndrome	Skin hair eye pigmentation variation	2	2	HERC2 (4), OCA2 (3)	0.14286	0.28571	4.954e-6	2.715e-5	302
Klippel-trenaunay syndrome	Rubinstein-taybi syndrome	2	0	DLX5 (1), SMOC1 (1)	0.14286	0.28571	4.954e-6	2.715e-5	
Benign prostatic hyperplasia	Cervical polyp	2	0	IRAK1BP1 (1), MEI4 (1)	0.05556	1.00000	5.019e-6	2.750e-5	138
Meningioma	Nasopharyngeal carcinoma	3	3	PTEN (2), PIK3CA (2), BAP1 (2)	0.06818	0.13636	5.025e-6	2.753e-5	
Congenital clubfoot	Skeletal dysplasia	3	0	COL5A1 (1), TRPV4 (1), INPP5E (1)	0.06818	0.13043	5.056e-6	2.768e-5	
Anti-neutrophil antibody associated vasculitis	Diffuse cutaneous systemic sclerosis	3	1	HLA-DQA1 (2), HLA-DPB1 (1), HLA-DPA1 (1)	0.06818	0.13043	5.056e-6	2.768e-5	
Diabetic eye disease	Obstructive sleep apnea syndrome	5	0	APOE (1), NRXN3 (1), TCF7L2 (1), THADA (1), FTO (1)	0.04000	0.10417	5.098e-6	2.791e-5	
Secondary malignant neoplasm	Sickle cell anemia	3	2	HBE1 (2), HBG2 (2), OR51B5 (1)	0.06667	0.15789	5.117e-6	2.800e-5	237
Mastocytosis	Secondary malignant neoplasm	3	0	HBE1 (1), HBG2 (1), OR51B5 (1)	0.06667	0.15789	5.117e-6	2.800e-5	237
Hypospadias	Raynaud disease	3	2	GSTT1 (2), GSTM1 (2), ZFHX3 (1)	0.05660	0.23077	5.295e-6	2.896e-5	23
Brain disease	Occupational disease	3	3	MPO (2), ALB (2), TGFB1 (2)	0.05660	0.23077	5.295e-6	2.896e-5	
Craniofacial microsomia	Hemifacial microsomia	2	2	FOXI3 (4), SF3B2 (3)	0.11111	0.50000	5.309e-6	2.901e-5	
Esophageal varices	Portal hypertension	2	0	PNPLA3 (1), HAPLN4 (1)	0.11111	0.50000	5.309e-6	2.901e-5	
Right atrial isomerism	Situs ambiguus	2	1	CERS1 (1), GDF1 (3)	0.08696	0.66667	5.310e-6	2.901e-5	
Brachydactyly	Synpolydactyly	2	1	HOXD13 (7), CHST11 (1)	0.08696	0.66667	5.310e-6	2.901e-5	111
Intellectual disability with craniofacial anomalies and cardiac defects	syndromic intellectual disability	2	2	KAT6A (3), H1-4 (2)	0.05405	1.00000	5.315e-6	2.903e-5	286
Dry eye syndrome	Peptic ulcer disease	6	2	TWIST2 (1), MAML3 (1), IL1B (2), ADAMTSL3 (1), MUC1 (2), KCNB2 (1)	0.03468	0.10526	5.438e-6	2.969e-5	
Alcoholic hepatitis	Angina pectoris	2	0	TNF (1), CXCL8 (1)	0.12500	0.40000	5.560e-6	3.032e-5	43
Alcoholic hepatitis	Cachexia	2	0	TNF (1), CXCL8 (1)	0.12500	0.40000	5.560e-6	3.032e-5	43
Congenital stationary night blindness	Ocular albinism	2	1	CACNA1F (2), CABP4 (1)	0.12500	0.40000	5.560e-6	3.032e-5	
Hemiplegic migraine	Lennox-gastaut syndrome	2	2	CACNA1A (3), SCN1A (3)	0.12500	0.40000	5.560e-6	3.032e-5	
Congenital aneurysm of ascending aorta	Visceral myopathy	2	1	MYH11 (4), MYLK (1)	0.12500	0.40000	5.560e-6	3.032e-5	
familial thoracic aortic aneurysm and aortic dissection	Visceral myopathy	2	2	MYH11 (5), MYLK (2)	0.12500	0.40000	5.560e-6	3.032e-5	
Autoinflammatory syndrome	X-linked lymphoproliferative syndrome	2	2	XIAP (4), SH2D1A (5)	0.05263	1.00000	5.618e-6	3.059e-5	
Noonan syndrome	Noonan syndrome-like disorder with loose anagen hair	2	2	SHOC2 (7), PPP1CB (6)	0.05263	1.00000	5.618e-6	3.059e-5	49
Fanconi-bickel syndrome	Glycogen storage disease	2	2	LDHA (5), SLC2A2 (5)	0.05263	1.00000	5.618e-6	3.059e-5	
Diamond-blackfan anemia	Ovarian agenesis	2	1	DIPK1A (1), RPL5 (7)	0.05263	1.00000	5.618e-6	3.059e-5	240
Diamond-blackfan anemia	Erythroid hypoplasia	2	1	DIPK1A (1), RPL5 (7)	0.05263	1.00000	5.618e-6	3.059e-5	240
Angioedema	Thrombophilia	4	3	PLAT (4), SLC19A2 (1), F5 (6), PLG (4)	0.04651	0.12500	5.616e-6	3.059e-5	
Angelman syndrome	Cyclin-dependent kinase-like 5 deficiency	2	1	CDKL5 (3), MECP2 (1)	0.13333	0.33333	5.686e-6	3.089e-5	55
Delirium	Pituitary neoplasms	2	2	IGF1 (2), DRD2 (2)	0.13333	0.33333	5.686e-6	3.089e-5	118
Berylliosis	Cervical disc degenerative disorder	2	2	TNF (2), TGFB1 (2)	0.13333	0.33333	5.686e-6	3.089e-5	289
Erythropoietic protoporphyria	Porphyria	2	2	ALAS2 (3), FECH (8)	0.13333	0.33333	5.686e-6	3.089e-5	
Pancreatic diseases	Vascular system injury	2	0	SPP1 (1), HMOX1 (1)	0.13333	0.33333	5.686e-6	3.089e-5	194
Hemolysis	Vascular system injury	2	0	HMOX1 (1), ATP7A (1)	0.13333	0.33333	5.686e-6	3.089e-5	194
Cervical intraepithelial neoplasia	Head and neck cancer	2	0	HLA-DQB1 (1), CLPTM1L (1)	0.13333	0.33333	5.686e-6	3.089e-5	1
Axenfeld-rieger syndrome	Tooth abnormalities	2	1	PAX6 (1), PITX2 (6)	0.13333	0.33333	5.686e-6	3.089e-5	
Berardinelli-seip congenital lipodystrophy	Partial lipodystrophy	2	1	PPARG (1), CAV1 (3)	0.13333	0.33333	5.686e-6	3.089e-5	79
Sebaceous gland disease	Uveal melanoma	3	0	HERC2 (1), IRF4 (1), CLPTM1L (1)	0.05769	0.21429	5.795e-6	3.147e-5	263
Degenerative disorder	Neurodegeneration with brain iron accumulation	3	3	FTL (3), PANK2 (3), FTH1 (5)	0.05769	0.21429	5.795e-6	3.147e-5	
Benign mucous membrane pemphigoid with ocular involvement	Gastritis	2	1	HLA-DRB1 (1), HLA-DQB1 (2)	0.08333	0.66667	5.841e-6	3.165e-5	1
Bouillaud’s disease	Gastritis	2	1	HLA-DRB1 (1), HLA-DQB1 (2)	0.08333	0.66667	5.841e-6	3.165e-5	1
Acute disseminated encephalomyelitis	Gastritis	2	1	HLA-DRB1 (1), HLA-DQB1 (2)	0.08333	0.66667	5.841e-6	3.165e-5	1
Benign mucous membrane pemphigoid	Gastritis	2	1	HLA-DRB1 (1), HLA-DQB1 (2)	0.08333	0.66667	5.841e-6	3.165e-5	1
Bouillaud’s disease	Sinusitis	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.08333	0.66667	5.841e-6	3.165e-5	1
Sinusitis	Skeletal system disease	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.08333	0.66667	5.841e-6	3.165e-5	1
Sinusitis	Wheat allergic reaction	2	0	HLA-DQA1 (1), HLA-DRB1 (1)	0.08333	0.66667	5.841e-6	3.165e-5	1
Mucopolysaccharidosis	Pfaundler-hurler syndrome	2	1	IDUA (5), SLC26A1 (1)	0.08333	0.66667	5.841e-6	3.165e-5	
Carcinogenesis	Pancreatic ductal carcinoma	3	0	NFE2L2 (1), KRAS (1), CDKN2A (1)	0.06383	0.16667	5.907e-6	3.200e-5	
Microphthalmia	Microphthalmia with retinitis pigmentosa and ocular anomalies	2	1	MFRP (4), C1QTNF5 (1)	0.05128	1.00000	5.930e-6	3.209e-5	52
Limb girdle muscular dystrophy	Sarcoglycanopathies	2	2	SGCA (5), SGCG (6)	0.05128	1.00000	5.930e-6	3.209e-5	131
Cholangiocarcinoma	Hepatic veno occlusive disease with immunodeficiency	2	2	SP140 (2), SP110 (7)	0.05128	1.00000	5.930e-6	3.209e-5	
Colobomatous optic disc macular atrophy chorioretinopathy syndrome	Microphthalmia	2	1	SIX6 (6), C14orf39 (1)	0.05128	1.00000	5.930e-6	3.209e-5	52
Cardiofacial dysplasia	Cholangiocarcinoma	2	2	PRKACB (5), PRKACA (5)	0.05128	1.00000	5.930e-6	3.209e-5	
Cleft lip and cleft of alveolar process of maxilla	Congenital anomaly of limb	2	2	TP63 (2), IRF6 (2)	0.10526	0.50000	6.066e-6	3.274e-5	
Brain stem neoplasms	Breast neoplasms 	2	0	CDK6 (1), CDK4 (1)	0.10526	0.50000	6.066e-6	3.274e-5	
Anterior polar cataract	Congenital total cataract	2	2	CRYAA (3), CRYGB (3)	0.10526	0.50000	6.066e-6	3.274e-5	51
Intestinal pseudo-obstruction	Patent ductus arteriosus	2	1	TFAP2B (4), MYH11 (1)	0.10526	0.50000	6.066e-6	3.274e-5	
Autoimmune polyendocrine syndrome	Lymphedema	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.10526	0.50000	6.066e-6	3.274e-5	1
Developmental venous anomaly	Hydrops fetalis	2	0	RASA1 (1), CCNH (1)	0.10526	0.50000	6.066e-6	3.274e-5	
Carney-stratakis syndrome	Pheochromocytoma	2	2	SDHB (5), SDHD (5)	0.10526	0.50000	6.066e-6	3.274e-5	78
Pheochromocytoma	Von hippel-lindau syndrome	2	2	SDHB (2), VHL (7)	0.10526	0.50000	6.066e-6	3.274e-5	
Autoimmune polyendocrine syndrome	Thyroiditis	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.10526	0.50000	6.066e-6	3.274e-5	1
Oropharyngeal neoplasms	Thyroiditis	2	2	HLA-DQA1 (2), HLA-DRB1 (2)	0.10526	0.50000	6.066e-6	3.274e-5	1
Necrosis	Vascular dementia	6	6	APP (2), MGMT (2), LPL (2), MTHFR (2), PRNP (2), TNF (2)	0.03371	0.10909	6.092e-6	3.287e-5	
Coronary restenosis	Heart valve disease	3	3	ACE (2), SPP1 (2), ITGB2 (2)	0.05660	0.21429	6.250e-6	3.371e-5	
Neurodegeneration with brain iron accumulation	Neurodegenerative disorder	3	3	FTL (3), PANK2 (3), FTH1 (6)	0.05660	0.21429	6.250e-6	3.371e-5	
Central nervous system non-hodgkin lymphoma	Pulmonary alveolar proteinosis	2	1	HLA-DRB1 (2), HLA-DRB5 (1)	0.13333	0.28571	6.368e-6	3.429e-5	
Congenital deformity of clavicle	Congenital joint contractures	2	0	GLDN (1), NEK9 (1)	0.13333	0.28571	6.368e-6	3.429e-5	61
Congenital deformity of elbow	Congenital joint contractures	2	0	GLDN (1), NEK9 (1)	0.13333	0.28571	6.368e-6	3.429e-5	61
Congenital deformity of forearm	Congenital joint contractures	2	0	GLDN (1), NEK9 (1)	0.13333	0.28571	6.368e-6	3.429e-5	61
Cowden disease	Hemimegalencephaly	2	2	PTEN (5), PIK3CA (7)	0.13333	0.28571	6.368e-6	3.429e-5	
Carney complex	Cowden disease	2	2	SDHB (3), SDHC (3)	0.13333	0.28571	6.368e-6	3.429e-5	78
Congenital arteriovenous malformation	Congenital venous anomaly	2	0	EPHB4 (1), TEK (1)	0.13333	0.28571	6.368e-6	3.429e-5	
Osteosarcoma	Sarcoma	4	1	TP53 (3), GSTP1 (1), SOX2 (1), BCOR (1)	0.04598	0.12121	6.373e-6	3.431e-5	4
Diffuse cutaneous systemic sclerosis	MHC class I deficiency	2	2	TAP2 (2), TAP1 (2)	0.08000	0.66667	6.397e-6	3.442e-5	
Congenital clubfoot	Neuropathic spinal arthropathy	2	0	COL5A1 (1), KAT6B (1)	0.08000	0.66667	6.397e-6	3.442e-5	
Gastrointestinal disease	Hematologic disease	3	2	MTHFR (2), JAK2 (1), MTR (2)	0.06250	0.16667	6.513e-6	3.504e-5	
Bronchopulmonary dysplasia	Senile cataract	3	0	GSTP1 (1), GSTT1 (1), GSTM1 (1)	0.05357	0.23077	6.536e-6	3.515e-5	
Arachnodactyly	Byzanthine arch palate	2	1	FBN1 (2), NSDHL (1)	0.11765	0.40000	6.571e-6	3.533e-5	398
Ataxia, spastic, autosomal dominant	Myasthenic syndrome	2	1	TAPBPL (1), VAMP1 (5)	0.04878	1.00000	6.580e-6	3.534e-5	5
Congenital hemangioma	Uveal melanoma	2	2	GNA11 (2), GNAQ (3)	0.04878	1.00000	6.580e-6	3.534e-5	
Cutis marmorata telangiectatica congenita	Uveal melanoma	2	2	GNA11 (3), ARL6IP6 (2)	0.04878	1.00000	6.580e-6	3.534e-5	
Nephronophthisis	Nephronophthisis-like nephropathy	2	2	XPNPEP3 (6), SLC41A1 (4)	0.04878	1.00000	6.580e-6	3.534e-5	
B-cell chronic lymphocytic leukemia	Urologic neoplasms	2	2	TP53 (2), CCND1 (2)	0.13333	0.25000	6.603e-6	3.544e-5	88
Accessory skin tag	Ruptured abdominal aortic aneurysm	2	0	ELN (1), EFEMP2 (1)	0.13333	0.25000	6.603e-6	3.544e-5	
Huntington disease	Hypotension	5	5	GRIN2B (2), MAOA (2), MAOB (2), IL6 (2), CNR1 (2)	0.04032	0.08197	6.604e-6	3.544e-5	
Heart valve prolapse	Oral submucous fibrosis	3	3	COL1A1 (2), TIMP1 (2), COL1A2 (2)	0.06383	0.15000	6.701e-6	3.596e-5	
Hodgkin disease	Hyper-immunoglobulin m syndrome	2	2	CD40LG (2), CD40 (2)	0.10000	0.50000	6.875e-6	3.686e-5	
Congenital fusion of ribs	Micrognathism	2	0	RAB5IF (1), TGIF2-RAB5IF (1)	0.10000	0.50000	6.875e-6	3.686e-5	
Bronchiectasis	Extrinsic allergic alveolitis	2	1	TNF (2), TAP1 (1)	0.10000	0.50000	6.875e-6	3.686e-5	
Ductal carcinoma	Lobular carcinoma	2	0	CDH1 (1), STAT5A (1)	0.12500	0.33333	6.949e-6	3.720e-5	
Arthrogryposis	Digitotalar dysmorphism	2	1	MYH3 (1), TPM2 (2)	0.12500	0.33333	6.949e-6	3.720e-5	258
Cardiovascular abnormalities	Vascular remodeling	2	2	GATA2 (2), AGT (2)	0.12500	0.33333	6.949e-6	3.720e-5	126
Cushing's disease	Penile disease	2	2	ATRX (2), POMC (2)	0.12500	0.33333	6.949e-6	3.720e-5	
Cervical intraepithelial neoplasia	Gastroparesis	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.12500	0.33333	6.949e-6	3.720e-5	1
Ovarian mucinous adenocarcinoma	Testicular hydrocele	2	0	INHBB (1), PAX8 (1)	0.12500	0.33333	6.949e-6	3.720e-5	
Infantile spasms	Tuberous sclerosis complex	2	2	TSC2 (7), TSC1 (7)	0.12500	0.33333	6.949e-6	3.720e-5	
Meningioma	Schwannomatosis	2	2	SMARCB1 (4), NF2 (5)	0.07692	0.66667	6.978e-6	3.732e-5	
Mitochondrial hepatopathy	Polyneuropathy	2	0	POLG (1), POLGARF (1)	0.07692	0.66667	6.978e-6	3.732e-5	
Hemorrhage	Warfarin sensitivity	2	0	NQO1 (1), CYP2C9 (1)	0.07692	0.66667	6.978e-6	3.732e-5	
Becker muscular dystrophy	Conduction disorder of the heart	2	1	DMD (4), PKP2 (1)	0.07692	0.66667	6.978e-6	3.732e-5	
Essential thrombocythemia	Myelodysplastic syndrome	3	3	TP53 (3), TET2 (5), JAK2 (4)	0.05263	0.23077	6.988e-6	3.736e-5	98
Clear cell renal cell carcinoma	Thyroid cancer	4	0	TERT (1), SLK (1), STN1 (1), CNEP1R1 (1)	0.04598	0.11429	7.025e-6	3.755e-5	
Hemangiosarcoma	Temporal lobe epilepsy	3	3	VEGFA (2), TEK (2), KDR (2)	0.06122	0.16667	7.159e-6	3.824e-5	
Diabetic ketoacidosis	Neonatal diabetes mellitus	3	3	INS (3), INS-IGF2 (2), SLC2A2 (3)	0.06000	0.17647	7.158e-6	3.824e-5	35
Benign prostatic hyperplasia	Toxic nodular goiter	3	0	TERT (1), SLK (1), STN1 (1)	0.06000	0.17647	7.158e-6	3.824e-5	
Bipolar depression	Non-organic psychosis	6	0	ANK3 (1), GCH1 (1), CACNA1C (1), TENM4 (1), TRPM2 (1), GRIK4 (1)	0.03550	0.08696	7.369e-6	3.934e-5	
Atherosclerosis	Erectile dysfunction	6	5	CELA2A (3), VEGFA (2), NOS3 (2), EDN1 (2), EDNRA (3), TDRD15 (1)	0.03429	0.09836	7.368e-6	3.934e-5	73
Esophageal adenocarcinoma	Peptic ulcer disease	5	0	BCL3 (1), FOXP1 (1), BARX1 (1), SLC22A3 (1), TPPP (1)	0.03289	0.14286	7.413e-6	3.957e-5	
Congenital nasopharyngeal atresia	Situs inversus	3	0	DNAH5 (1), DNAH11 (1), DNAAF19 (1)	0.06250	0.15000	7.440e-6	3.970e-5	
Avascular necrosis of femoral head	Spondyloepimetaphyseal dysplasia	2	2	COL2A1 (5), TRPV4 (5)	0.07407	0.66667	7.585e-6	4.045e-5	
Brachyolmia	Spondyloepimetaphyseal dysplasia	2	2	TRPV4 (7), PAPSS2 (6)	0.07407	0.66667	7.585e-6	4.045e-5	
Anti-glomerular basement membrane disease	Giant cell arteritis	2	1	HLA-DRB1 (2), FCGR3A (1)	0.09524	0.50000	7.733e-6	4.121e-5	
Hematologic disease	Neural tube defects, folate-sensitive	2	2	MTHFR (3), MTR (3)	0.09524	0.50000	7.733e-6	4.121e-5	
Amnesia	Diabetes insipidus	2	2	AVP (2), POMC (2)	0.09524	0.50000	7.733e-6	4.121e-5	
autosomal recessive primary microcephaly	Seckel syndrome	2	2	CENPE (4), CDK5RAP2 (2)	0.09524	0.50000	7.733e-6	4.121e-5	
Combined immunodeficiency disease	Lymphoproliferative syndrome	3	3	CD70 (2), ITK (6), CD27 (5)	0.05357	0.21429	7.752e-6	4.130e-5	
Demyelinating diseases	Osteosarcoma	3	3	TP53 (3), SIRT1 (2), MYC (2)	0.04545	0.27273	7.771e-6	4.138e-5	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Congenital brain malformation	3	0	CASK (1), SEPSECS (1), KIAA0586 (1)	0.05882	0.17647	7.803e-6	4.154e-5	124
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Congenital hypoplasia of part of brain	3	0	CASK (1), SEPSECS (1), KIAA0586 (1)	0.05882	0.17647	7.803e-6	4.154e-5	124
Osteonecrosis of the femoral head	Thromboembolism	3	3	F2 (2), PLAT (2), F5 (2)	0.04839	0.25000	7.822e-6	4.163e-5	
Osteolysis	Vascular system injury	2	0	SPP1 (1), TNF (1)	0.12500	0.28571	7.958e-6	4.225e-5	
Generalized lipodystrophy	Partial lipodystrophy	2	1	PPARG (1), CAV1 (3)	0.12500	0.28571	7.958e-6	4.225e-5	79
Hepatic veno occlusive disease	Keratosis	2	0	ASIP (1), GSTM1 (1)	0.12500	0.28571	7.958e-6	4.225e-5	
Hereditary hemochromatosis	Iron deficiency anemia	2	1	HFE (1), TF (2)	0.12500	0.28571	7.958e-6	4.225e-5	
Brain edema	Intracranial vasospasm	2	2	S100B (2), PLAT (2)	0.12500	0.28571	7.958e-6	4.225e-5	
Porphyria	Porphyria cutanea tarda	2	2	ALAD (6), UROD (5)	0.12500	0.28571	7.958e-6	4.225e-5	
Megacystis microcolon intestinal hypoperistalsis syndrome	Tricuspid valve disease	2	1	MYH11 (5), NDE1 (1)	0.12500	0.28571	7.958e-6	4.225e-5	426
Beckwith-wiedemann syndrome	Russell-silver syndrome	2	2	IGF2 (5), CDKN1C (7)	0.12500	0.28571	7.958e-6	4.225e-5	323
Diabetes mellitus ketosis prone	monogenic diabetes	2	2	INS (2), HNF1A (2)	0.12500	0.28571	7.958e-6	4.225e-5	
Carbohydrate metabolism disease	Prediabetes	2	0	HK1 (1), GCK (1)	0.12500	0.28571	7.958e-6	4.225e-5	
Dermatosparaxis ehlers-danlos syndrome	Ehlers-danlos syndrome	2	2	ADAMTS2 (6), ADAMTSL2 (3)	0.04444	1.00000	7.980e-6	4.233e-5	
Cone rod dystrophy and hearing loss	Usher syndrome	2	2	CEP78 (7), CEP250 (4)	0.04444	1.00000	7.980e-6	4.233e-5	
Ehlers-danlos syndrome	Periodontal ehlers-danlos syndrome	2	2	C1S (7), C1R (6)	0.04444	1.00000	7.980e-6	4.233e-5	
Usher syndrome	Usher syndrome type 1	2	2	MYO7A (7), USH1C (7)	0.04444	1.00000	7.980e-6	4.233e-5	31
Polymyositis	Scleroderma	3	3	TNF (2), HLA-DQB1 (2), STAT4 (2)	0.06250	0.13636	8.103e-6	4.297e-5	22
Dupuytren contracture	Glaucoma	9	3	ANTXR1 (1), GLIS3 (2), EXOC2 (1), EPDR1 (2), LPP (1), UST (1), POU6F2 (1), AFAP1 (2), SFRP4 (1)	0.02857	0.10112	8.197e-6	4.346e-5	
Beta-hydroxyisobutyryl-coa deacylase deficiency	Leukodystrophy	2	0	AIFM1 (1), RAB33A (1)	0.07143	0.66667	8.216e-6	4.351e-5	
Arthritis	Bouillaud’s disease	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.07143	0.66667	8.216e-6	4.351e-5	1
Amino acid metabolism disorder	S-adenosylhomocysteine hydrolase deficiency	2	2	AHCY (3), MAT1A (2)	0.07143	0.66667	8.216e-6	4.351e-5	112
Amino acid metabolism disorder	Hepatic methionine adenosyltransferase deficiency	2	2	AHCY (2), MAT1A (3)	0.07143	0.66667	8.216e-6	4.351e-5	112
Amino acid metabolism disorder	neurometabolic disorder due to serine deficiency	2	2	PHGDH (2), PSPH (3)	0.07143	0.66667	8.216e-6	4.351e-5	
Pancreatic ductal carcinoma	Splenomegaly	3	0	NOTCH1 (1), NFE2L2 (1), KRAS (1)	0.06122	0.15000	8.230e-6	4.356e-5	
Hyperplasia	Oral submucous fibrosis	3	3	PTGS2 (2), TGFB1 (2), MMP9 (2)	0.06122	0.15000	8.230e-6	4.356e-5	
Chagas cardiomyopathy	Obstructive sleep apnea syndrome	4	0	NRG1 (1), TBX15 (1), IZUMO1R (1), GPR83 (1)	0.03883	0.16000	8.264e-6	4.373e-5	
Diabetes complications	Diabetes microvascular complications	2	2	VEGFA (3), PON1 (3)	0.11765	0.33333	8.337e-6	4.403e-5	
Curling ulcer	Papilloma	2	2	PTGS2 (2), TGFB1 (2)	0.11765	0.33333	8.337e-6	4.403e-5	
Intestinal polyps	Papilloma	2	0	PTGS2 (1), CCND1 (1)	0.11765	0.33333	8.337e-6	4.403e-5	
Hemolysis	Paralysis	2	0	SOD1 (1), ATP7A (1)	0.11765	0.33333	8.337e-6	4.403e-5	
Cervical disc degenerative disorder	Trigeminal neuralgia	2	2	IL1B (2), TNF (2)	0.11765	0.33333	8.337e-6	4.403e-5	289
Cockayne syndrome	Xeroderma pigmentosum	2	2	ERCC1 (3), ERCC4 (7)	0.11765	0.33333	8.337e-6	4.403e-5	
Contracture of multiple joints	Fetal akinesia deformation sequence	2	2	MAGEL2 (2), GLDN (2)	0.11765	0.33333	8.337e-6	4.403e-5	
Skin ulcer	Tonic-clonic epilepsy	2	2	NGF (2), FGF2 (2)	0.11765	0.33333	8.337e-6	4.403e-5	142
Dilatation of pulmonary artery	Pulmonary arterial hypertension	2	2	FBN1 (2), BMPR2 (5)	0.04348	1.00000	8.352e-6	4.408e-5	
Ovarian agenesis	Pulmonary arterial hypertension	2	0	DIPK1A (1), RPL5 (1)	0.04348	1.00000	8.352e-6	4.408e-5	
Diabetes mellitus	Polycystic ovary syndrome	16	8	HMGA2 (1), INS (2), GIPR (2), BCL2 (3), INSR (2), PPARG (3), THADA (1), FTO (1), TFRC (3), CYP1A1 (1), CDK12 (1), NEUROD2 (1)	0.03150	0.07048	8.397e-6	4.431e-5	
Hoyeraal hreidarsson syndrome	Thyroid carcinoma	2	2	POT1 (2), TINF2 (3)	0.12500	0.25000	8.488e-6	4.470e-5	
Imperforate anus	Penile hypospadia	2	0	GABRG3 (1), TBXAS1 (1)	0.12500	0.25000	8.488e-6	4.470e-5	111
Kabuki syndrome	Rubinstein-taybi syndrome	2	1	KMT2D (8), KMT2A (1)	0.12500	0.25000	8.488e-6	4.470e-5	
Exudative vitreoretinopathy	Osteosclerosis	2	2	CTNNB1 (4), LRP5 (6)	0.12500	0.25000	8.488e-6	4.470e-5	
Exudative vitreoretinopathy	Vitreoretinal degeneration	2	2	LRP5 (5), TSPAN12 (5)	0.12500	0.25000	8.488e-6	4.470e-5	
Darier disease	Ruptured abdominal aortic aneurysm	2	0	ELN (1), EFEMP2 (1)	0.12500	0.25000	8.488e-6	4.470e-5	
Dravet syndrome	Epilepsy of infancy with migrating focal seizures	2	2	SCN1A (4), SCN2A (2)	0.12500	0.25000	8.488e-6	4.470e-5	
Charge syndrome	Rubinstein-taybi syndrome	2	1	KMT2D (1), EP300 (6)	0.12500	0.25000	8.488e-6	4.470e-5	
Benign pemphigus	Ruptured abdominal aortic aneurysm	2	0	ELN (1), EFEMP2 (1)	0.12500	0.25000	8.488e-6	4.470e-5	
Aortic disease	Ureteral calculi	2	2	CAT (2), SOD1 (2)	0.09091	0.50000	8.642e-6	4.548e-5	294
Discordant ventriculoarterial connection	Down syndrome	2	2	MTHFR (2), SLC19A1 (2)	0.09091	0.50000	8.642e-6	4.548e-5	56
Down syndrome	Neural tube defects, folate-sensitive	2	2	MTHFR (3), MTHFD1 (2)	0.09091	0.50000	8.642e-6	4.548e-5	
Cerebral palsy	Cerebral small vessel disease	2	1	COL4A2 (2), COL4A1 (1)	0.04255	1.00000	8.731e-6	4.590e-5	33
Cerebral palsy	Vascular leukoencephalopathy	2	2	COL4A2 (2), COL4A1 (2)	0.04255	1.00000	8.731e-6	4.590e-5	33
Cerebral palsy	Congenital porencephaly	2	0	COL4A2 (1), COL4A1 (1)	0.04255	1.00000	8.731e-6	4.590e-5	33
Cerebral palsy	Posttraumatic porencephalic cyst of brain	2	0	COL4A2 (1), COL4A1 (1)	0.04255	1.00000	8.731e-6	4.590e-5	33
Aortic rupture	Intracranial aneurysm	2	2	MMP9 (2), MMP2 (2)	0.10526	0.40000	8.843e-6	4.647e-5	
Hematologic neoplasms	Secondary parkinson disease	2	2	PON1 (2), ABCB1 (2)	0.10526	0.40000	8.843e-6	4.647e-5	
Cortical development malformation	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	2	2	AKT3 (2), MTOR (2)	0.06897	0.66667	8.873e-6	4.662e-5	
Bell's palsy	Large artery stroke	5	0	CDC5L (1), FARP1 (1), SUPT3H (1), EYA1 (1), MGST1 (1)	0.03846	0.08929	9.144e-6	4.802e-5	
Clear cell renal cell carcinoma	Lipoma	3	0	TERT (1), STN1 (1), ACTRT3 (1)	0.04615	0.25000	9.273e-6	4.869e-5	
Sickle cell anemia	Systemic mastocytosis	3	2	HBE1 (2), HBG2 (2), OR51B5 (1)	0.06122	0.13043	9.307e-6	4.886e-5	237
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Neural tube defect	2	1	ZBTB25 (1), MTHFD1 (5)	0.04082	1.00000	9.516e-6	4.994e-5	
Congenital lactic acidosis	Cytochrome c oxidase deficiency	2	2	LRPPRC (4), PET100 (2)	0.08696	0.50000	9.602e-6	5.038e-5	
Autoimmune lymphoproliferative disorder	Epidermal nevus	2	2	KRAS (2), NRAS (3)	0.11765	0.28571	9.724e-6	5.096e-5	17
Central precocious puberty	Vogt-koyanagi-harada disease	2	0	C1orf141 (1), IL23R (1)	0.11765	0.28571	9.724e-6	5.096e-5	
Testicular hydrocele	Thyroid dyshormonogenesis	2	2	TG (5), SLA (2)	0.11765	0.28571	9.724e-6	5.096e-5	
Focal cortical dysplasia	Infantile spasms	2	2	TSC2 (3), TSC1 (3)	0.11765	0.28571	9.724e-6	5.096e-5	
Epidermal nevus	Melanocytic nevus	2	2	NRAS (4), HRAS (4)	0.11765	0.28571	9.724e-6	5.096e-5	17
Carotid artery thrombosis	Platelet disorder	2	2	ITGB3 (2), STXBP2 (2)	0.11111	0.33333	9.851e-6	5.160e-5	67
Basal ganglia disease	Pituitary neoplasms	2	2	PRL (2), DRD2 (2)	0.11111	0.33333	9.851e-6	5.160e-5	
Congenital fibrosis of extraocular muscles	Congenital ptosis	2	1	COL25A1 (2), MYH10 (1)	0.10000	0.40000	1.010e-5	5.286e-5	
Catalepsy	Constipation	2	2	GCG (2), POMC (2)	0.10000	0.40000	1.010e-5	5.286e-5	
Retinoschisis	Rett syndrome	2	2	CDKL5 (4), RS1 (4)	0.10000	0.40000	1.010e-5	5.286e-5	
Congenital hemivertebra	Patent ductus arteriosus	2	0	INPP5E (1), LSM1 (1)	0.10000	0.40000	1.010e-5	5.286e-5	
Generalized epilepsy with febrile seizures plus	Hemiplegic migraine	2	2	SCN1A (8), PRRT2 (2)	0.10000	0.40000	1.010e-5	5.286e-5	
Choanal atresia syndrome	Male infertility spermatogenesis disorder	2	1	KMT2D (4), CHD7 (1)	0.10000	0.40000	1.010e-5	5.286e-5	
Angioedema	Thromboembolism	3	2	PLAT (1), F5 (2), F12 (3)	0.04478	0.25000	1.033e-5	5.399e-5	
Angioedema	Lipoma	3	0	DCLK1 (1), SLC19A2 (1), F5 (1)	0.04478	0.25000	1.033e-5	5.399e-5	
Malignant peripheral nerve sheath tumor	Small vessel stroke	2	2	SH3PXD2A (2), HTRA1 (2)	0.03922	1.00000	1.033e-5	5.399e-5	
Malignant triton tumor	Small vessel stroke	2	2	SH3PXD2A (2), HTRA1 (2)	0.03922	1.00000	1.033e-5	5.399e-5	
Hereditary hearing loss	Usher syndrome type 1	2	2	MYO7A (2), USH1C (2)	0.03922	1.00000	1.033e-5	5.399e-5	31
Anxiety disorder	Dyslexia	8	5	APOE (2), EPHA4 (1), FOXP2 (2), MAPT (3), MARK2 (1), STK24 (1), DRD4 (2), SLC6A3 (2)	0.03200	0.07207	1.045e-5	5.457e-5	
Eye disorder	Mucositis	2	2	IL1B (2), MTHFR (2)	0.11765	0.25000	1.061e-5	5.535e-5	
Angelman syndrome	Prader-willi syndrome	2	2	OCA2 (2), SNRPN (6)	0.11765	0.25000	1.061e-5	5.535e-5	
Brain atrophy	Niemann-pick disease	2	1	ACYP1 (1), NPC2 (8)	0.11765	0.25000	1.061e-5	5.535e-5	
Charcot-marie-tooth disease, x-linked	Deafness, x-linked	2	2	PRPS1 (6), AIFM1 (6)	0.11765	0.25000	1.061e-5	5.535e-5	
Crest syndrome	Waldenstrom macroglobulinemia	2	0	EXOC2 (1), IRF4 (1)	0.08333	0.50000	1.061e-5	5.536e-5	
Partial adenosine deaminase deficiency	Severe combined immunodeficiency	2	1	PKIG (1), ADA (7)	0.03846	1.00000	1.076e-5	5.606e-5	
Muscular dystrophy	Sarcoglycanopathies	2	1	SGCA (2), SGCG (1)	0.03846	1.00000	1.076e-5	5.606e-5	131
immunodeficiency 104	Severe combined immunodeficiency	2	2	IL7R (3), PTPRC (2)	0.03846	1.00000	1.076e-5	5.606e-5	
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Severe combined immunodeficiency	2	1	ZBTB25 (1), MTHFD1 (5)	0.03846	1.00000	1.076e-5	5.606e-5	
Amphetamine or sympathomimetic abuse	Internet addiction disorder	4	4	COMT (3), PRKG1 (3), DRD4 (3), NRG1 (3)	0.03922	0.14286	1.080e-5	5.630e-5	
Anhedonia	Dyskinesia	3	1	COMT (1), ATP1A3 (1), DRD2 (2)	0.06000	0.11538	1.083e-5	5.642e-5	
Latent autoimmune diabetes in adults	Ocular sarcoidosis	3	0	HLA-DQA1 (1), HLA-DQB1 (1), PFKFB3 (1)	0.04412	0.25000	1.089e-5	5.674e-5	1
Charge syndrome	Kabuki syndrome	2	2	KMT2D (8), KDM6A (7)	0.11765	0.22222	1.091e-5	5.681e-5	
Cerebellar atrophy	Hydrolethalus syndrome	2	1	HYLS1 (7), PUS3 (1)	0.06250	0.66667	1.100e-5	5.724e-5	
Amyloidosis	Learning disorders	3	3	APP (2), PSEN1 (2), ACHE (2)	0.05660	0.15789	1.108e-5	5.769e-5	
Coffin-siris syndrome	Intellectual developmental disorder speech dysmorphic	2	2	SMARCA2 (4), SOX4 (6)	0.09524	0.40000	1.145e-5	5.954e-5	
Eye abnormalities	Schizencephaly	2	2	SHH (2), COL4A1 (2)	0.09524	0.40000	1.145e-5	5.954e-5	
Congenital hemivertebra	Micrognathism	2	0	BLTP1 (1), INPP5E (1)	0.09524	0.40000	1.145e-5	5.954e-5	
Larsen syndrome	Pseudoxanthoma elasticum	2	2	XYLT1 (2), XYLT2 (2)	0.09524	0.40000	1.145e-5	5.954e-5	
Curling ulcer	Hyperemia	2	2	PTGS2 (2), NOS2 (2)	0.10526	0.33333	1.149e-5	5.967e-5	
Ovarian mucinous adenocarcinoma	Testicular disease	2	0	INHBB (1), PAX8 (1)	0.10526	0.33333	1.149e-5	5.967e-5	
Congenital thyroid atrophy	Testicular disease	2	2	PAX8 (2), IGSF1 (2)	0.10526	0.33333	1.149e-5	5.967e-5	102
Congenital hypothyroidism without goiter	Testicular disease	2	2	PAX8 (2), IGSF1 (2)	0.10526	0.33333	1.149e-5	5.967e-5	102
Cervical disc degenerative disorder	Nephrosclerosis	2	2	TGFB1 (2), COL1A1 (2)	0.10526	0.33333	1.149e-5	5.967e-5	
Diabetic cardiomyopathy	Pancreatic diseases	2	2	SPP1 (2), LEPR (2)	0.10526	0.33333	1.149e-5	5.967e-5	194
Congenital cartilage disorder	Skeletal dysplasia	3	2	SLC26A2 (2), TRPV4 (1), CHST3 (2)	0.05882	0.13043	1.151e-5	5.977e-5	
Thyroid disease	Thyroid hormone metabolism disorder	2	2	SECISBP2 (5), DIO1 (4)	0.03704	1.00000	1.162e-5	6.034e-5	
Prediabetes	Stomach disease	2	2	PTPRN2 (2), GCG (2)	0.11111	0.28571	1.167e-5	6.044e-5	
Epidermal nevus	Hypophosphatemic rickets	2	1	HRAS (3), LRRC56 (1)	0.11111	0.28571	1.167e-5	6.044e-5	17
Hypotrichosis simplex	Peeling skin syndrome	2	1	PSORS1C1 (1), CDSN (7)	0.11111	0.28571	1.167e-5	6.044e-5	
Testicular neoplasms	Xeroderma pigmentosum	2	2	ERCC1 (2), ERCC4 (7)	0.11111	0.28571	1.167e-5	6.044e-5	
Epilepsy with myoclonic atonic seizures	Lennox-gastaut syndrome	2	2	CHD2 (3), SCN1A (3)	0.11111	0.28571	1.167e-5	6.044e-5	
Absence epilepsy	Lennox-gastaut syndrome	2	2	CACNA1A (3), GABRB3 (3)	0.11111	0.28571	1.167e-5	6.044e-5	
Angina pectoris	Varicose veins	2	1	MMP1 (1), MMP9 (2)	0.11111	0.28571	1.167e-5	6.044e-5	
Congenital structural myopathy	Tubular aggregate myopathy	2	2	ORAI1 (4), STIM1 (4)	0.11111	0.28571	1.167e-5	6.044e-5	
Keratitis	Wagr syndrome	2	1	ELP4 (1), PAX6 (6)	0.08000	0.50000	1.167e-5	6.045e-5	
Clonal hematopoiesis	Idiopathic pulmonary fibrosis	5	3	RTEL1 (4), TERT (4), ZNF318 (1), ABCC10 (1), STN1 (4)	0.03731	0.08929	1.169e-5	6.052e-5	
1p36.33 duplication syndrome	Pontocerebellar hypoplasia	2	2	ATAD3A (5), ATAD3C (3)	0.06061	0.66667	1.175e-5	6.079e-5	
Auditory neuropathy	Spastic paraplegia, x-linked	2	1	PLP1 (3), RAB9B (1)	0.06061	0.66667	1.175e-5	6.079e-5	
Malnutrition	Neural tube defects, x-linked	2	2	MTHFR (2), CBS (2)	0.06061	0.66667	1.175e-5	6.079e-5	
Caudal regression syndrome	Neural tube defects, x-linked	2	2	FUZ (2), VANGL1 (2)	0.06061	0.66667	1.175e-5	6.079e-5	
Hepatitis c induced liver cirrhosis	Membranous glomerulonephritis	2	0	BTNL2 (1), TSBP1 (1)	0.06061	0.66667	1.175e-5	6.079e-5	1
Corneal astigmatism	Glaucoma	8	1	BNC2 (1), HERC2 (1), VAV2 (1), ADAMTS8 (1), ANGPT1 (3), FMNL2 (1), LMO7 (1), BICC1 (1)	0.02685	0.11268	1.178e-5	6.089e-5	
Gastrointestinal disease	Polycythemia, primary familial and congenital	2	2	SH2B3 (2), JAK2 (2)	0.05882	0.66667	1.254e-5	6.478e-5	
Familial polycythemia	Gastrointestinal disease	2	2	SH2B3 (2), JAK2 (2)	0.05882	0.66667	1.254e-5	6.478e-5	
Gastrointestinal disease	Hepatic vein thrombosis	2	2	MTHFR (2), JAK2 (2)	0.05882	0.66667	1.254e-5	6.478e-5	
Gross motor development delay	Sotos syndrome	2	1	SCN4A (1), NSD1 (8)	0.09091	0.40000	1.288e-5	6.652e-5	
Gross motor development delay	Hemiplegic migraine	2	1	CACNA1A (2), WDR45 (1)	0.09091	0.40000	1.288e-5	6.652e-5	
Amnesia	Degenerative disorder	3	3	APP (2), IL6 (2), NGF (2)	0.05357	0.16667	1.290e-5	6.660e-5	
Diffuse idiopathic skeletal hyperostosis	Facial nerve disorder	2	0	CDC5L (1), SUPT3H (1)	0.11111	0.25000	1.296e-5	6.681e-5	
B-cell chronic lymphocytic leukemia	Melanocytic nevus	2	2	TP53 (2), ATM (2)	0.11111	0.25000	1.296e-5	6.681e-5	
Hereditary hemolytic anemia	Secondary polycythemia	2	2	HBB (3), BPGM (2)	0.11111	0.25000	1.296e-5	6.681e-5	
Retinitis pigmentosa-deafness syndrome	Vitreoretinal degeneration	2	0	CDH23 (1), C10orf105 (1)	0.11111	0.25000	1.296e-5	6.681e-5	
Hypertrichosis	Rubinstein-taybi syndrome	2	1	CREBBP (7), ASXL1 (1)	0.11111	0.25000	1.296e-5	6.681e-5	
Metachromatic leukodystrophy	Retinitis pigmentosa-deafness syndrome	2	1	PSAP (5), CDH23 (1)	0.11111	0.25000	1.296e-5	6.681e-5	
Auricle malformation	Testicular hydrocele	2	0	DIPK1A (1), RPL5 (1)	0.11111	0.25000	1.296e-5	6.681e-5	240
Diverticulitis	Obstructive sleep apnea syndrome	4	0	JCAD (1), NBEA (1), SLC35F3 (1), LHX8 (1)	0.03774	0.14286	1.322e-5	6.811e-5	
Cleft lip and palate	Cleft lip with or without cleft palate	2	1	CDH1 (1), ARHGAP29 (2)	0.10000	0.33333	1.326e-5	6.826e-5	
Eyelid disease	Uterine prolapse	2	0	EFEMP1 (1), PNPT1 (1)	0.10000	0.33333	1.326e-5	6.826e-5	152
Cervical disc degenerative disorder	Gouty arthritis	2	0	IL1B (1), TGFB1 (1)	0.10000	0.33333	1.326e-5	6.826e-5	289
Cervical disc degenerative disorder	Mitochondrial myopathy	2	2	IL1B (2), TNF (2)	0.10000	0.33333	1.326e-5	6.826e-5	
Hypoxia	Sulfur amino acid metabolism disorder	2	2	ADK (2), AHCY (2)	0.05714	0.66667	1.334e-5	6.866e-5	
Hypoxia	Intestinal perforation	2	2	NOS3 (2), NOS1 (2)	0.05714	0.66667	1.334e-5	6.866e-5	
Bouillaud’s disease	Bronchitis	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.05714	0.66667	1.334e-5	6.866e-5	1
Pancreatitis	Tropical calcific pancreatitis	2	2	CTRC (4), SPINK1 (6)	0.03448	1.00000	1.346e-5	6.923e-5	210
Angioedema	Primary adrenal insufficiency	2	0	CUX1 (1), MYL10 (1)	0.03448	1.00000	1.346e-5	6.923e-5	
Focal glomerulosclerosis	Nephrotic syndrome, steroid-resistant, autosomal recessive	2	0	AXDND1 (1), NPHS2 (1)	0.03448	1.00000	1.346e-5	6.923e-5	20
Hypertensive heart disease	Osteomyelitis	2	0	TCF7L2 (1), FTO (1)	0.11111	0.22222	1.363e-5	6.985e-5	
Eye disorder	Synovitis	2	2	COL2A1 (2), POMC (2)	0.11111	0.22222	1.363e-5	6.985e-5	15
Aniridia	Tooth abnormalities	2	2	PAX6 (4), PITX2 (3)	0.11111	0.22222	1.363e-5	6.985e-5	
Pituitary hormone deficiency	Septo-optic dysplasia	2	2	HESX1 (5), OTX2 (4)	0.11111	0.22222	1.363e-5	6.985e-5	273
Osteomyelitis	Tongue neoplasms	2	2	TERT (2), HLA-DQB1 (2)	0.11111	0.22222	1.363e-5	6.985e-5	
Head and neck cancer	Osteomyelitis	2	2	TERT (2), HLA-DQB1 (2)	0.11111	0.22222	1.363e-5	6.985e-5	1
Headache	Optic neuropathy	2	1	CSF3 (2), IFNA2 (1)	0.11111	0.22222	1.363e-5	6.985e-5	
Hepatic insufficiency	Keratosis	2	2	NFE2L2 (2), KEAP1 (2)	0.11111	0.22222	1.363e-5	6.985e-5	
Arterial occlusive disease	Brain edema	2	2	PLAU (2), PLAT (2)	0.11111	0.22222	1.363e-5	6.985e-5	29
Atrophy	Splenic disease	2	2	CYP1A2 (2), AHR (2)	0.11111	0.22222	1.363e-5	6.985e-5	
Anencephaly	Eye disorder	2	0	MTHFR (1), RPGRIP1L (1)	0.11111	0.22222	1.363e-5	6.985e-5	
Combined pituitary hormone deficiency	Septo-optic dysplasia	2	2	HESX1 (6), OTX2 (3)	0.11111	0.22222	1.363e-5	6.985e-5	273
Diabetic polyneuropathy	Hypertensive heart disease	2	0	TCF7L2 (1), FTO (1)	0.11111	0.22222	1.363e-5	6.985e-5	
Deep vein thrombosis	Disseminated intravascular coagulation	2	2	SERPINC1 (2), PROC (2)	0.11111	0.22222	1.363e-5	6.985e-5	
Internet addiction disorder	Language development disorders	3	2	ERBB4 (1), FOXP2 (3), NRXN1 (3)	0.05769	0.11538	1.361e-5	6.985e-5	
Keratoconus	Marfan syndrome	5	4	COL5A1 (3), SMAD3 (2), COL1A1 (3), LOX (2), COL5A2 (1)	0.03333	0.11628	1.376e-5	7.048e-5	50
Myopathic ophthalmopathy	Vogt-koyanagi-harada disease	2	2	IL23R (2), PTPN22 (2)	0.10526	0.28571	1.379e-5	7.050e-5	
Peeling skin syndrome	Rheumatic disease	2	2	PSORS1C1 (2), CDSN (7)	0.10526	0.28571	1.379e-5	7.050e-5	
Basal ganglia disease	Prostatic hyperplasia	2	2	PRL (2), PDGFB (2)	0.10526	0.28571	1.379e-5	7.050e-5	
Extravasation of diagnostic and therapeutic materials	Pruritus	2	0	TAC1 (1), HRH1 (1)	0.10526	0.28571	1.379e-5	7.050e-5	
Carotid artery stenosis	Osteolysis	2	2	SPP1 (2), TNFRSF11B (2)	0.10526	0.28571	1.379e-5	7.050e-5	
Branchiootorenal syndrome	Congenital abnormalities	2	2	EYA1 (5), SIX1 (6)	0.10526	0.28571	1.379e-5	7.050e-5	134
Congestive ophthalmopathy	Vogt-koyanagi-harada disease	2	2	IL23R (2), PTPN22 (2)	0.10526	0.28571	1.379e-5	7.050e-5	
Amnesia	Neurodegenerative disorder	3	3	APP (2), IL6 (2), NGF (2)	0.05263	0.16667	1.391e-5	7.111e-5	
Anti-glomerular basement membrane disease	Polyneuropathy	2	0	HLA-DRB1 (1), FCGR3A (1)	0.07407	0.50000	1.394e-5	7.126e-5	
Central nervous system disease	Transient ischemic attack	2	2	EPO (2), SOD2 (2)	0.07407	0.50000	1.394e-5	7.126e-5	
Pfeiffer syndrome	Triple negative breast cancer	2	2	MDM4 (2), FGFR2 (8)	0.05556	0.66667	1.418e-5	7.244e-5	38
B-lymphoblastic leukemia/lymphoma	Li-fraumeni syndrome	2	2	TP53 (7), CDKN2A (2)	0.08696	0.40000	1.439e-5	7.349e-5	45
B-lymphoblastic leukemia/lymphoma	Urogenital neoplasms	2	2	TP53 (2), CDKN2A (2)	0.08696	0.40000	1.439e-5	7.349e-5	
B-lymphoblastic leukemia/lymphoma	Malt lymphoma	2	0	FOXP1 (1), IGH (1)	0.08696	0.40000	1.439e-5	7.349e-5	
Corneal astigmatism	Non-small cell lung carcinoma	6	0	BNC2 (1), HERC2 (1), PLCL1 (1), CHSY1 (1), THSD7B (1), DTNBP1 (1)	0.03315	0.08451	1.468e-5	7.495e-5	16
Interstitial cystitis	Ocular sarcoidosis	4	0	HLA-DQA1 (1), HLA-DQB1 (1), HLA-DPA1 (1), HLA-DOA (1)	0.04211	0.10000	1.497e-5	7.640e-5	1
Geleophysic dysplasia	Growth disorder	2	2	LTBP3 (6), ADAMTSL2 (5)	0.05405	0.66667	1.504e-5	7.671e-5	
Bouillaud’s disease	Diabetic ketoacidosis	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.05405	0.66667	1.504e-5	7.671e-5	
Large artery stroke	Moyamoya disease	5	1	HDAC9 (1), LRP1 (1), TWIST1 (1), PHACTR1 (2), FLT1 (1)	0.03676	0.08065	1.513e-5	7.715e-5	
Contracture of multiple joints	Hydrops fetalis	2	0	MYO18A (1), FLVCR2 (1)	0.09524	0.33333	1.515e-5	7.722e-5	
Curling ulcer	Diffuse gastric adenocarcinoma	2	2	ABO (2), PSCA (2)	0.09524	0.33333	1.515e-5	7.722e-5	215
Gallbladder neoplasms	Penile neoplasms	2	0	TP53 (1), KRAS (1)	0.07143	0.50000	1.515e-5	7.722e-5	
Urination disorders	Ventricular remodeling	2	2	NOS1 (2), NPPA (2)	0.07143	0.50000	1.515e-5	7.722e-5	
Congenital disorder of glycosylation	Desbuquois syndrome	14	14	ALG12 (4), ALG3 (4), ALG9 (4), ATP6V0A2 (2), FAM20B (3), SLC35C1 (3), XYLT1 (3), GALNT2 (6), CEP290 (2), B3GALT6 (3), TMEM165 (4), COG1 (7)	0.02144	0.14141	1.528e-5	7.784e-5	
Dementia in huntington’s disease	Huntington disease	2	2	PRNP (6), JPH3 (6)	0.03226	1.00000	1.544e-5	7.861e-5	
Huntington disease	Interstitial nephritis	2	2	FAN1 (4), MTMR10 (2)	0.03226	1.00000	1.544e-5	7.861e-5	
Non-organic psychosis	Schizoaffective disorder	4	0	C9orf72 (1), PRKCA (1), SAT1 (1), CALR (1)	0.04000	0.11765	1.547e-5	7.877e-5	
Episodic ataxia	Lennox-gastaut syndrome	2	2	CACNA1A (6), SCN2A (4)	0.10526	0.25000	1.555e-5	7.908e-5	
Eye neoplasms	Prader-willi syndrome	2	2	HERC2 (5), OCA2 (3)	0.10526	0.25000	1.555e-5	7.908e-5	302
Congenital nystagmus	Eye neoplasms	2	2	OCA2 (2), TYR (2)	0.10526	0.25000	1.555e-5	7.908e-5	
Rothmund-thomson syndrome	Ruptured abdominal aortic aneurysm	2	0	ELN (1), EFEMP2 (1)	0.10526	0.25000	1.555e-5	7.908e-5	
Esophageal adenocarcinoma	Hyperlipidemia	5	1	ALDH1A2 (1), APOB (3), BCL3 (1), SLC22A2 (1), SLC22A3 (1)	0.02907	0.14286	1.560e-5	7.935e-5	
Ambiguous genitalia	Fraser syndrome	2	2	WT1 (6), FREM2 (6)	0.08333	0.40000	1.599e-5	8.127e-5	
Congenital diaphragmatic hernia	Diaphragmatic malformations	2	2	ZFPM2 (5), PLS3 (2)	0.08333	0.40000	1.599e-5	8.127e-5	
Bicuspid aortic valve	Hereditary bundle branch system defect	2	1	DSP (1), NKX2-5 (2)	0.10000	0.28571	1.608e-5	8.161e-5	
Bronchial hyperreactivity	Extravasation of diagnostic and therapeutic materials	2	2	TAC1 (2), IL1RN (2)	0.10000	0.28571	1.608e-5	8.161e-5	
Angle closure glaucoma	Hepatic veno occlusive disease	2	0	MTHFR (1), GSTM1 (1)	0.10000	0.28571	1.608e-5	8.161e-5	
Testicular disease	Thyroid agenesis	2	2	PAX8 (2), IGSF1 (2)	0.10000	0.28571	1.608e-5	8.161e-5	102
Bonnevie-ullrich syndrome	Hyperemia	2	2	CAT (2), NOS2 (2)	0.10000	0.28571	1.608e-5	8.161e-5	
Hepatic encephalopathy	Nausea	2	2	TNF (2), OPRM1 (2)	0.10000	0.28571	1.608e-5	8.161e-5	
Arthritis	Autoimmune polyendocrine syndrome	2	0	HLA-DQA1 (1), HLA-DQB1 (1)	0.06897	0.50000	1.642e-5	8.326e-5	1
Arthritis	Esophageal achalasia	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.06897	0.50000	1.642e-5	8.326e-5	1
Arthritis	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.06897	0.50000	1.642e-5	8.326e-5	1
Beta thalassemia	Diamond-blackfan anemia	3	2	EPO (4), GATA1 (5), GH1 (1)	0.05357	0.14286	1.649e-5	8.361e-5	
Anhydramnios	Fabry disease	2	0	ACE (1), AGT (1)	0.10526	0.22222	1.666e-5	8.441e-5	
Arterial occlusive disease	Hematuria	2	2	PLAU (2), CYP1A1 (2)	0.10526	0.22222	1.666e-5	8.441e-5	
Optic neuropathy	Stomatitis	2	1	CSF3 (2), IFNA2 (1)	0.10526	0.22222	1.666e-5	8.441e-5	26
Ectrodactyly	Skin abnormalities	2	2	TP63 (6), FGFR2 (2)	0.10526	0.20000	1.704e-5	8.621e-5	
Esotropia	Tongue neoplasms	2	2	SOD2 (2), PTGS2 (2)	0.10526	0.20000	1.704e-5	8.621e-5	
Head and neck cancer	Tongue neoplasms	2	0	TERT (1), HLA-DQB1 (1)	0.10526	0.20000	1.704e-5	8.621e-5	
Congenital skin anomaly	Ectrodactyly	2	1	TP63 (6), FGFR2 (1)	0.10526	0.20000	1.704e-5	8.621e-5	
Berylliosis	Vascular system injury	2	0	ACE (1), TNF (1)	0.10526	0.20000	1.704e-5	8.621e-5	
Berylliosis	Intervertebral disc disease	2	0	TNF (1), TGFB1 (1)	0.10526	0.20000	1.704e-5	8.621e-5	289
Mastocytosis	Sickle cell anemia	3	2	HBE1 (2), HBG2 (2), OR51B5 (1)	0.05556	0.10714	1.711e-5	8.657e-5	237
Degenerative disorder	Frontotemporal dementia	4	2	PSEN1 (4), MAPT (4), FUS (1), TARDBP (1)	0.04124	0.10000	1.714e-5	8.667e-5	
Frontotemporal dementia	Generalized anxiety disorder	4	1	MAPT (5), ST18 (1), TMEM106B (1), VWDE (1)	0.04124	0.10000	1.714e-5	8.667e-5	
Diabetes microvascular complications	Substance-induced psychosis	2	2	ACE (2), SOD2 (3)	0.09091	0.33333	1.716e-5	8.676e-5	
Asbestosis	Cervical disc degenerative disorder	2	2	IL1B (2), TNF (2)	0.09091	0.33333	1.716e-5	8.676e-5	
Aortic rupture	Bone neoplasms	2	2	MMP9 (2), MMP2 (2)	0.08000	0.40000	1.767e-5	8.926e-5	
Aplasia cutis congenita	Epidermolysis bullosa	2	2	PLEC (8), ITGB4 (5)	0.08000	0.40000	1.767e-5	8.926e-5	229
Brain small vessel disease	Intracerebral hemorrhage	2	2	COL4A2 (3), COL4A1 (4)	0.08000	0.40000	1.767e-5	8.926e-5	33
Bladder exstrophy and epispadias complex	Tetra-amelia syndrome	2	1	WNT3 (6), LRRC37A2 (1)	0.06667	0.50000	1.773e-5	8.950e-5	
Aneurysm	Coronary syndrome	2	0	CELSR2 (1), LPA (1)	0.06667	0.50000	1.773e-5	8.950e-5	
Degenerative disorder	Splenomegaly	3	3	APP (2), PSEN1 (2), MAPT (2)	0.05172	0.15000	1.796e-5	9.063e-5	
Charcot-Marie-Tooth disease type 2	Hereditary motor and sensory neuropathies	2	2	RAB7A (2), NEFL (2)	0.02985	1.00000	1.809e-5	9.132e-5	13
Glycogen storage disease	Left ventricular disease	4	4	ACE (2), PRKAG2 (3), TNNT2 (4), GAA (7)	0.04000	0.10811	1.828e-5	9.222e-5	
Congenital nystagmus	Oculocutaneous albinism	2	2	OCA2 (6), TYR (5)	0.10000	0.25000	1.837e-5	9.260e-5	
Optic neuritis	Visual impairment	2	0	EFEMP1 (1), PNPT1 (1)	0.10000	0.25000	1.837e-5	9.260e-5	
Rheumatic disease	Urologic neoplasms	2	2	WWOX (2), FHIT (2)	0.10000	0.25000	1.837e-5	9.260e-5	
Auricle malformation	Byzanthine arch palate	2	0	FGFR2 (1), EARS2 (1)	0.10000	0.25000	1.837e-5	9.260e-5	
Diabetic ketoacidosis	Maturity-onset diabetes of the young (mody)	3	3	INS (6), INS-IGF2 (2), PAX4 (5)	0.05357	0.13043	1.847e-5	9.307e-5	35
autosomal dominant polycystic kidney disease	Intracranial aneurysm	2	2	PKD1 (2), PKD2 (2)	0.09524	0.28571	1.855e-5	9.341e-5	
Colobomatous microphthalmia	Klippel-feil syndrome	2	2	GDF6 (6), GDF3 (6)	0.09524	0.28571	1.855e-5	9.341e-5	52
Chiari-frommel syndrome	Dyskinesia, drug-induced	2	2	DRD2 (2), GAD1 (2)	0.09524	0.28571	1.855e-5	9.341e-5	118
Lymphoid leukemia	Waldenstrom macroglobulinemia	2	0	EXOC2 (1), IRF4 (1)	0.06452	0.50000	1.909e-5	9.611e-5	
Juvenile arthritis	Skin disease	9	9	SMAD3 (2), IL1RN (2), ALOX12 (2), CD83 (2), LPP (2), NR4A2 (2), TNFAIP6 (2), TNIK (2), UBE2E1 (2)	0.03010	0.06923	1.911e-5	9.619e-5	
Ankle fracture	Bone fracture	2	0	CPED1 (1), WNT16 (1)	0.02899	1.00000	1.922e-5	9.671e-5	
Amnesia	Gastrointestinal hemorrhage	2	2	AVP (2), CSF2 (2)	0.08696	0.33333	1.931e-5	9.703e-5	
Developmental regression	Focal onset epileptic seizure	2	0	SCN8A (1), GNB1 (1)	0.08696	0.33333	1.931e-5	9.703e-5	424
Corneal neovascularization	Diabetes microvascular complications	2	2	VEGFA (3), IL1RN (3)	0.08696	0.33333	1.931e-5	9.703e-5	
Rickets	Uremia	2	2	VDR (2), PTH (2)	0.08696	0.33333	1.931e-5	9.703e-5	
Cervical disc degenerative disorder	Uremia	2	2	TGFB1 (2), SPARC (2)	0.08696	0.33333	1.931e-5	9.703e-5	289
Cyclin-dependent kinase-like 5 deficiency	Gross motor development delay	2	0	CACNA1A (1), MECP2 (1)	0.08696	0.33333	1.931e-5	9.703e-5	55
Neurodegenerative disorder	Splenomegaly	3	3	APP (2), PSEN1 (2), MAPT (2)	0.05085	0.15000	1.936e-5	9.726e-5	
Dysarthria	Xeroderma pigmentosum-cockayne syndrome	2	1	BIVM-ERCC5 (1), ERCC5 (3)	0.07692	0.40000	1.944e-5	9.764e-5	
Cystine urolithiasis	Myasthenic syndrome	2	1	PREPL (5), SLC3A1 (1)	0.04762	0.66667	1.971e-5	9.898e-5	
Coronary thrombosis	Von willebrand disorder	2	1	PLAT (2), GP6 (1)	0.10000	0.22222	1.998e-5	1.003e-4	414
Lipoma	Venous insufficiency	2	0	SLC19A2 (1), F5 (1)	0.10000	0.22222	1.998e-5	1.003e-4	
Hyperproinsulinemia	Latent autoimmune diabetes in adults	2	2	INS (6), INS-IGF2 (2)	0.10000	0.22222	1.998e-5	1.003e-4	
Congenital arteriovenous malformation	Hypophosphatemic rickets	2	0	HRAS (1), LRRC56 (1)	0.10000	0.22222	1.998e-5	1.003e-4	17
Ataxia, spastic, autosomal recessive	Spastic ataxia	2	2	KIF1C (5), MARS2 (5)	0.02817	1.00000	2.037e-5	1.022e-4	
Primary graft dysfunction	Vasculitis	2	2	GATA2 (2), SENP1 (2)	0.06250	0.50000	2.050e-5	1.028e-4	126
Dwarfism	Meier-gorlin syndrome	2	2	ORC1 (5), DONSON (2)	0.10000	0.20000	2.081e-5	1.043e-4	175
Headache	Stomatitis	2	1	CSF3 (2), IFNA2 (1)	0.10000	0.20000	2.081e-5	1.043e-4	
Autoimmune lymphoproliferative disorder	Myelomonocytic leukemia	2	2	KRAS (2), NRAS (4)	0.10000	0.20000	2.081e-5	1.043e-4	
Ductal carcinoma	Endometrial hyperplasia	2	2	PTEN (2), TP53 (2)	0.10000	0.20000	2.081e-5	1.043e-4	
Cryptorchidism	Hypospadias	3	2	AR (4), KAT6B (1), HSD3B2 (2)	0.05000	0.15000	2.083e-5	1.043e-4	
Hepatic encephalopathy	Huntington disease	3	3	GLUL (2), MAOA (2), MAOB (2)	0.04110	0.21429	2.087e-5	1.046e-4	
Congenital anomalies of the kidney and urinary tract	Vacterl association	3	0	NOTCH2 (1), SALL1 (1), TRAP1 (1)	0.04478	0.18750	2.089e-5	1.046e-4	
Cervical polyp	Sjogren syndrome	2	1	IRAK1BP1 (3), MEI4 (1)	0.02778	1.00000	2.096e-5	1.049e-4	
Congenital fibrosis of extraocular muscles	Epidermal nevus	2	1	HRAS (3), LRRC56 (1)	0.09091	0.28571	2.119e-5	1.060e-4	
Hereditary hemorrhagic telangiectasia	Hydrops fetalis	2	0	RASA1 (1), CCNH (1)	0.09091	0.28571	2.119e-5	1.060e-4	65
Hydrops fetalis	Klippel-trenaunay syndrome	2	0	RASA1 (1), CCNH (1)	0.09091	0.28571	2.119e-5	1.060e-4	65
Klippel-trenaunay syndrome	Vacterl association	2	0	DLX5 (1), SMOC1 (1)	0.09091	0.28571	2.119e-5	1.060e-4	
Female infertility	Polycystic ovary syndrome	9	6	CHEK2 (1), DENND1A (1), DMD (3), CYP19A1 (2), LEP (2), TNRC6B (3), LHB (2), LIF (2), PROX1 (1)	0.02795	0.08738	2.119e-5	1.060e-4	
Hyperuricemic nephropathy	Polycystic liver disease	2	1	HNF1B (1), SEC61A1 (3)	0.07407	0.40000	2.128e-5	1.064e-4	97
Fuchs endothelial dystrophy	Polymorphous corneal dystrophy	2	2	COL8A2 (3), ZEB1 (3)	0.07407	0.40000	2.128e-5	1.064e-4	87
Fuchs endothelial dystrophy	Posterior polymorphous corneal dystrophy	2	2	COL8A2 (4), ZEB1 (5)	0.07407	0.40000	2.128e-5	1.064e-4	87
Dravet syndrome	Hepatic encephalopathy	2	2	GABRG2 (4), GABRA1 (3)	0.09524	0.25000	2.143e-5	1.070e-4	
Hyperemia	Turner syndrome	2	2	CAT (2), NOS2 (2)	0.09524	0.25000	2.143e-5	1.070e-4	
Hyperemia	Occupational dermatitis	2	2	KNG1 (2), BDKRB2 (2)	0.09524	0.25000	2.143e-5	1.070e-4	
Hyperparathyroidism	Hypocalcemia	2	2	PTH (2), CASR (7)	0.08333	0.33333	2.157e-5	1.077e-4	
Eyelid disease	Neuropathy	2	0	EFEMP1 (1), PNPT1 (1)	0.08333	0.33333	2.157e-5	1.077e-4	152
Carpal tunnel syndrome	Pelvic organ prolapse	6	1	FBN2 (3), EFEMP1 (1), LOXL1 (1), WNT4 (1), EVX2 (1), LNPK (1)	0.03046	0.09524	2.162e-5	1.079e-4	
Hemorrhoid	Leiomyoma	3	3	EGFR (2), ESR1 (2), SMAD3 (2)	0.03093	0.30000	2.175e-5	1.085e-4	
Amblyopia	Strabismus	3	0	GALC (1), KMT2D (1), SLC9A6 (1)	0.05263	0.12000	2.188e-5	1.092e-4	
Aortic stenosis	Brain aneurysm	5	0	FERD3L (1), POLR1F (1), MYEOV (1), BET1L (1), RNF144A (1)	0.03497	0.08333	2.193e-5	1.094e-4	
Emphysema	Hemorrhage	3	2	SERPINA1 (2), PLAU (2), TNFRSF8 (1)	0.05172	0.12500	2.297e-5	1.145e-4	
Carpal tunnel syndrome	Stickler syndrome	3	3	COL11A1 (6), VCAN (2), COL11A2 (2)	0.04000	0.21429	2.301e-5	1.147e-4	
Bowen’s disease	Neuronal ceroid lipofuscinosis	2	2	TFAM (2), PPARGC1A (2)	0.05882	0.50000	2.348e-5	1.170e-4	
Neural tube defects, folate-sensitive	Neural tube defects, x-linked	2	2	MTHFR (2), MTHFD1 (2)	0.05882	0.50000	2.348e-5	1.170e-4	
Anencephaly	Hyperhomocysteinemia	2	2	MTHFR (2), MTRR (2)	0.09524	0.22222	2.361e-5	1.175e-4	155
Hyperhomocysteinemia	Intracellular cobalamin metabolism disorder	2	2	MTRR (3), MTR (2)	0.09524	0.22222	2.361e-5	1.175e-4	
Optic neuropathy	Raynaud disease	2	1	NOS3 (2), IFNA2 (1)	0.09524	0.22222	2.361e-5	1.175e-4	
Hepatic insufficiency	Occupational disease	2	2	ALB (2), TGFB1 (2)	0.09524	0.22222	2.361e-5	1.175e-4	
Arterial occlusive disease	Intracranial hemorrhage	2	2	PLAU (2), PLAT (2)	0.09524	0.22222	2.361e-5	1.175e-4	29
Erectile dysfunction	Heart disease	6	3	CDH13 (1), VEGFA (2), NOS3 (3), EDNRA (3), TDRD15 (1), ZC3HC1 (1)	0.02970	0.09836	2.370e-5	1.179e-4	73
Aortic arch syndrome	Retinopathy of prematurity	2	0	HLA-DRB1 (1), HLA-B (1)	0.08000	0.33333	2.397e-5	1.192e-4	
Hodgkin disease	Hyper-igm immunodeficiency syndrome	2	2	CD40LG (5), CD40 (6)	0.08696	0.28571	2.401e-5	1.193e-4	
Acromesomelic dysplasia	Chondrodysplasia	2	2	BMPR1B (3), GDF5 (5)	0.08696	0.28571	2.401e-5	1.193e-4	
Asbestosis	Osteolysis	2	2	SPP1 (2), TNF (2)	0.08696	0.28571	2.401e-5	1.193e-4	
Atrioventricular block	Hereditary bundle branch system defect	2	1	TRPM4 (2), NKX2-5 (1)	0.08696	0.28571	2.401e-5	1.193e-4	3
Atrioventricular block	Emery-dreifuss muscular dystrophy	2	2	LMNA (6), SYNE1 (6)	0.08696	0.28571	2.401e-5	1.193e-4	
Amphetamine or sympathomimetic abuse	Non-organic psychosis	5	5	GSTP1 (2), NPY1R (2), OPRM1 (2), PICK1 (2), SLC6A9 (2)	0.03521	0.07246	2.400e-5	1.193e-4	
Developmental delay with variable intellectual disability	Intellectual disability	2	2	TCF20 (5), JARID2 (5)	0.02597	1.00000	2.404e-5	1.194e-4	
Keratinocyte carcinoma	Primary adrenal insufficiency	2	0	CUX1 (1), MYL10 (1)	0.02564	1.00000	2.468e-5	1.226e-4	
Anhedonia	Panic disorder	3	0	COMT (1), HTR1A (1), CRH (1)	0.05172	0.11538	2.470e-5	1.226e-4	
Uterine prolapse	Visual impairment	2	0	EFEMP1 (1), PNPT1 (1)	0.09091	0.25000	2.472e-5	1.227e-4	152
Gouty arthritis	Mucositis	2	2	IL1B (2), IL1RN (2)	0.09091	0.25000	2.472e-5	1.227e-4	
Esotropia	Papilloma	2	2	SOD2 (2), PTGS2 (2)	0.09524	0.20000	2.497e-5	1.234e-4	
monogenic diabetes	Paralysis	2	2	INS (2), SIRT1 (2)	0.09524	0.20000	2.497e-5	1.234e-4	
Endometrial hyperplasia	Intestinal neoplasms	2	2	CTNNB1 (2), APC (2)	0.09524	0.20000	2.497e-5	1.234e-4	
Nanophthalmos	Septo-optic dysplasia	2	2	SOX2 (3), OTX2 (2)	0.09524	0.20000	2.497e-5	1.234e-4	
Majewski syndrome	Saldino-noonan syndrome	2	0	NEK1 (1), DYNC2H1 (1)	0.09524	0.20000	2.497e-5	1.234e-4	19
Congenital aneurysm of ascending aorta	Tricuspid valve disease	2	0	MYH11 (1), NDE1 (1)	0.09524	0.20000	2.497e-5	1.234e-4	
Intervertebral disc disease	Trigeminal neuralgia	2	2	IL1B (2), TNF (2)	0.09524	0.20000	2.497e-5	1.234e-4	289
Ductal carcinoma of breast	Tongue neoplasms	2	0	SOD2 (1), PTGS2 (1)	0.09524	0.20000	2.497e-5	1.234e-4	270
Dwarfism	Ear, patella, short stature syndrome	2	2	ORC1 (3), DONSON (2)	0.09524	0.20000	2.497e-5	1.234e-4	175
Hydronephrosis	Hypertensive heart disease	2	0	PDILT (1), UMOD (1)	0.09524	0.20000	2.497e-5	1.234e-4	313
Hyperoxaluria	Pleural diseases	2	2	IL6 (2), CCL2 (2)	0.09524	0.20000	2.497e-5	1.234e-4	
Ductal carcinoma of breast	Esotropia	2	2	SOD2 (2), PTGS2 (2)	0.09524	0.20000	2.497e-5	1.234e-4	
Bone resorption	Cachexia	2	0	PTHLH (1), GHRL (1)	0.09524	0.20000	2.497e-5	1.234e-4	
Childhood absence epilepsy	Lennox-gastaut syndrome	2	2	GABRG2 (2), GABRB3 (4)	0.09524	0.20000	2.497e-5	1.234e-4	
Childhood absence epilepsy	Idiopathic generalized epilepsy	2	2	GABRA1 (3), SLC2A1 (4)	0.09524	0.20000	2.497e-5	1.234e-4	227
Angina pectoris	Esotropia	2	1	TNF (2), CXCL8 (1)	0.09524	0.20000	2.497e-5	1.234e-4	43
Common migraine	Trigeminal neuralgia	2	2	TNF (2), CALCA (2)	0.09524	0.20000	2.497e-5	1.234e-4	
Cleft lip and cleft of alveolar process of maxilla	Ectodermal dysplasia	2	0	TP63 (1), NECTIN1 (1)	0.05714	0.50000	2.504e-5	1.237e-4	
Ectodermal dysplasia	Pachyonychia congenita	2	2	KRT17 (6), KRT16 (6)	0.05714	0.50000	2.504e-5	1.237e-4	
Wagr syndrome	Wilms tumor	2	2	WT1 (7), PAX6 (4)	0.05714	0.50000	2.504e-5	1.237e-4	
Hepatoblastoma	Wilms tumor	2	1	IGF2 (3), CTNNB1 (1)	0.05714	0.50000	2.504e-5	1.237e-4	81
Conotruncal cardiac defect	Ventricular septal defect	4	4	TBX1 (5), NKX2-6 (5), NKX2-5 (5), GATA6 (5)	0.03922	0.09524	2.534e-5	1.251e-4	41
Demyelinating diseases	Ductal carcinoma	2	2	TP53 (2), MYC (2)	0.09524	0.18182	2.543e-5	1.254e-4	
Ductal carcinoma	Prostatic intraepithelial neoplasia	2	0	PTEN (1), CDH1 (1)	0.09524	0.18182	2.543e-5	1.254e-4	
Autoimmune lymphoproliferative disorder	Melanocytic nevus	2	2	NRAS (4), CASP8 (5)	0.09524	0.18182	2.543e-5	1.254e-4	17
Periodic limb movement disorder	Sleep disorder	2	0	BTBD9 (1), MEIS1 (1)	0.09524	0.18182	2.543e-5	1.254e-4	
Hematuria	Infantile spasms	2	2	POMC (2), LMX1B (2)	0.09524	0.18182	2.543e-5	1.254e-4	
Dyslipidemias	Promyelocytic leukemia	3	3	PPARG (2), RARA (2), PML (2)	0.04545	0.16667	2.540e-5	1.254e-4	
Congenital heart disease	Pelvic organ prolapse	9	5	FOXP2 (1), NRP1 (3), SORBS2 (3), RXRA (2), SNAI1 (3), KLF13 (3), IQCJ (1), IQCJ-SCHIP1 (1), LNPK (1)	0.02970	0.06475	2.597e-5	1.280e-4	
Hemorrhagic disease	Thrombocytosis	2	2	THPO (5), JAK2 (4)	0.07692	0.33333	2.649e-5	1.305e-4	
Hemorrhagic disease	Thrombocythemia	2	2	THPO (5), JAK2 (5)	0.07692	0.33333	2.649e-5	1.305e-4	
Ataxia	Choreoathetosis	2	2	SCN8A (2), SLC2A1 (2)	0.07692	0.33333	2.649e-5	1.305e-4	
Cushing syndrome	Penile disease	2	2	ATRX (2), POMC (2)	0.07692	0.33333	2.649e-5	1.305e-4	
Autoimmune polyendocrine syndrome	Bronchitis	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.05556	0.50000	2.665e-5	1.312e-4	1
Bronchitis	Esophageal achalasia	2	2	HLA-DQA1 (3), HLA-DQB1 (3)	0.05556	0.50000	2.665e-5	1.312e-4	1
Bronchitis	Oropharyngeal neoplasms	2	2	HLA-DQA1 (2), HLA-DQB1 (2)	0.05556	0.50000	2.665e-5	1.312e-4	1
Otosclerosis	Uremia	3	3	SPP1 (3), TGFB1 (3), KDR (3)	0.04478	0.16667	2.697e-5	1.327e-4	
Osteolysis	Uremia	2	2	SPP1 (2), TNFRSF11B (2)	0.08333	0.28571	2.701e-5	1.329e-4	
Eye disease	Ocular sarcoidosis	5	1	HLA-DQA1 (1), HLA-DQB1 (1), KCNH7 (1), LRP2 (3), STK32C (1)	0.03378	0.08621	2.703e-5	1.329e-4	
Metabolic bone disorder	Vitamin deficiency disorder	2	2	GC (2), CYP2R1 (2)	0.09091	0.22222	2.754e-5	1.352e-4	
Hepatic insufficiency	Intestinal disease	2	2	NOS2 (2), MAPK14 (2)	0.09091	0.22222	2.754e-5	1.352e-4	
Granulomatosis with polyangiitis	Irritant dermatitis	2	2	HLA-DPB1 (4), HLA-DPA1 (3)	0.09091	0.22222	2.754e-5	1.352e-4	
Endocrine system disease	Hepatic insufficiency	2	2	NFE2L2 (2), RELA (2)	0.09091	0.22222	2.754e-5	1.352e-4	80
Bicuspid aortic valve	Optic neuropathy	2	0	ATP6 (1), ATP8 (1)	0.09091	0.22222	2.754e-5	1.352e-4	26
Asperger syndrome	Fatigue syndrome	2	2	DISC1 (2), SLC6A4 (2)	0.09091	0.22222	2.754e-5	1.352e-4	392
Cholangitis	Intrahepatic cholestasis	2	2	EGR1 (2), ABCB4 (2)	0.09091	0.22222	2.754e-5	1.352e-4	
Rubinstein-taybi syndrome	Vacterl association	2	0	DLX5 (1), SMOC1 (1)	0.08696	0.25000	2.824e-5	1.386e-4	195
Gliosarcoma	Urologic neoplasms	2	1	TP53 (2), VEGFA (1)	0.08696	0.25000	2.824e-5	1.386e-4	
Paraganglioma	Pheochromocytoma	2	2	SDHB (3), SDHD (3)	0.08696	0.25000	2.824e-5	1.386e-4	78
Pheochromocytoma	Pheochromocytoma/paraganglioma syndrome	2	2	SDHB (4), SDHD (4)	0.08696	0.25000	2.824e-5	1.386e-4	78
Neurofibromatosis-noonan syndrome	Strabismus	2	1	NF1 (6), PTPN11 (1)	0.05405	0.50000	2.832e-5	1.389e-4	
Carpal tunnel syndrome	Uterine prolapse	3	1	FBN2 (3), EFEMP1 (1), WNT4 (1)	0.03947	0.20000	2.868e-5	1.407e-4	
Combined oxidative phosphorylation deficiency	Perrault syndrome	3	3	PRORP (5), RMND1 (5), MRPL49 (2)	0.03750	0.21429	2.896e-5	1.420e-4	
Carotid artery stenosis	Eye disorder	2	0	F2 (1), MTHFR (1)	0.09091	0.20000	2.950e-5	1.445e-4	
Keratosis	Senile cataract	2	1	CAT (2), GSTM1 (1)	0.09091	0.20000	2.950e-5	1.445e-4	
Esotropia	Hyperbilirubinemia	2	2	SOD2 (2), TNF (2)	0.09091	0.20000	2.950e-5	1.445e-4	
Gilbert syndrome	Hyperbilirubinemia	2	2	UGT1A1 (4), SLCO1B1 (3)	0.09091	0.20000	2.950e-5	1.445e-4	256
Glucose-6-phosphate dehydrogenase deficiency	Hepatolenticular degeneration	2	2	IL10 (2), IL6 (2)	0.06452	0.40000	2.951e-5	1.446e-4	
Congenital foot deformity	Growth disorder	2	2	FGD1 (2), PTHLH (2)	0.05263	0.50000	3.003e-5	1.471e-4	
Postsynaptic congenital myasthenic syndrome	Presynaptic congenital myasthenic syndrome	2	2	AGRN (3), COL13A1 (3)	0.09091	0.18182	3.050e-5	1.493e-4	5
Trichothiodystrophy	Xeroderma pigmentosum	2	2	ERCC2 (7), ERCC3 (8)	0.09091	0.18182	3.050e-5	1.493e-4	113
Myofibrillar myopathy	Posterior subcapsular cataract	2	2	CRYAB (3), UNC45B (4)	0.09091	0.18182	3.050e-5	1.493e-4	
Demyelinating diseases	Paralysis	2	2	MOG (2), SIRT1 (2)	0.09091	0.18182	3.050e-5	1.493e-4	
Irritant dermatitis	Systemic scleroderma	2	2	HLA-DPB1 (3), HLA-DPA1 (3)	0.08696	0.22222	3.176e-5	1.554e-4	22
Oral cavity carcinoma	Respiratory system neoplasm	2	0	HLA-DQB1 (1), ADH1B (1)	0.06250	0.40000	3.178e-5	1.554e-4	1
Middle aortic syndrome	Moyamoya angiopathy	2	0	NF1 (1), RNF213 (1)	0.05128	0.50000	3.179e-5	1.555e-4	71
Huntington disease	Pheochromocytoma	3	3	MAOA (2), MAOB (2), GDNF (2)	0.04000	0.18750	3.193e-5	1.561e-4	
Gaucher disease	Metachromatic leukodystrophy	2	1	PSAP (7), CDH23 (1)	0.08333	0.25000	3.200e-5	1.564e-4	114
Chondrodysplasia	Duodenitis	2	2	PAM16 (2), CORO7-PAM16 (2)	0.08333	0.25000	3.200e-5	1.564e-4	
Interstitial lung disease	Systemic scleroderma	3	1	RTEL1 (2), HLA-DPB1 (1), HLA-DPA1 (1)	0.03797	0.20000	3.299e-5	1.612e-4	
Cirrhosis	Liver failure	2	2	KRT8 (3), KRT18 (4)	0.03704	0.66667	3.349e-5	1.636e-4	63
Congenital diaphragmatic hernia	Cryptophthalmos syndrome	2	1	FRAS1 (1), FREM2 (2)	0.07692	0.28571	3.353e-5	1.637e-4	
Dextrocardia	Situs inversus	2	1	ZIC3 (2), CFAP53 (1)	0.07692	0.28571	3.353e-5	1.637e-4	54
Gallbladder disease	Intrahepatic cholestasis of pregnancy	2	2	ABCG8 (4), ABCB4 (5)	0.07692	0.28571	3.353e-5	1.637e-4	
Corneal edema	Duodenal ulcer	2	0	PRTFDC1 (1), ARHGAP21 (1)	0.05000	0.50000	3.361e-5	1.640e-4	
Brain aneurysm	Peripheral vascular disease	4	0	CARD11 (1), HDAC9 (1), LINGO2 (1), EDNRA (1)	0.03419	0.12121	3.433e-5	1.675e-4	
Bronchial hyperreactivity	Common migraine	2	2	TAC1 (2), CALCA (2)	0.08696	0.20000	3.440e-5	1.677e-4	
Congenital epicanthus	Esotropia	2	0	ANKRD11 (1), TFAP2A (1)	0.08696	0.20000	3.440e-5	1.677e-4	
Brain edema	Hepatic encephalopathy	2	2	S100B (2), TNF (2)	0.08696	0.20000	3.440e-5	1.677e-4	
Childhood absence epilepsy	Hepatic encephalopathy	2	2	GABRG2 (3), GABRA1 (3)	0.08696	0.20000	3.440e-5	1.677e-4	
Benign infantile epilepsy	Myoclonic epilepsy	2	2	CHRNA2 (2), KCNQ3 (3)	0.06897	0.33333	3.479e-5	1.696e-4	
Dyslipidemias	Osteosclerosis	2	2	TNFRSF11A (3), TCIRG1 (4)	0.08000	0.25000	3.599e-5	1.752e-4	
Ruptured abdominal aortic aneurysm	Thoracic aortic aneurysm	2	2	FBN1 (2), EFEMP2 (2)	0.08000	0.25000	3.599e-5	1.752e-4	64
Ruptured aortic aneurysm	Thoracic aortic aneurysm	2	2	FBN1 (2), EFEMP2 (2)	0.08000	0.25000	3.599e-5	1.752e-4	64
Ruptured thoracic aortic aneurysm	Thoracic aortic aneurysm	2	2	FBN1 (2), EFEMP2 (2)	0.08000	0.25000	3.599e-5	1.752e-4	64
Thoracic aortic aneurysm	Thoracoabdominal aortic aneurysm	2	2	FBN1 (2), EFEMP2 (2)	0.08000	0.25000	3.599e-5	1.752e-4	64
Congenital heart septal defect	Double outlet right ventricle	2	2	NKX2-5 (2), YES1 (2)	0.08000	0.25000	3.599e-5	1.752e-4	
Cushing's disease	Giant cell glioblastoma	2	2	TP53 (2), PPARG (2)	0.08696	0.18182	3.604e-5	1.752e-4	
Essential thrombocythemia	Stomatitis	2	1	IFNA2 (1), VWF (2)	0.08696	0.18182	3.604e-5	1.752e-4	
Macrothrombocytopenia	Platelet disorder	2	2	ITGB3 (2), TPM4 (2)	0.08696	0.18182	3.604e-5	1.752e-4	67
Erythrocytosis	Hereditary hemolytic anemia	2	2	HBB (6), BPGM (3)	0.08696	0.18182	3.604e-5	1.752e-4	
Digestive system disease	Intestinal vascular insufficiency	2	0	C2orf80 (1), NEDD9 (1)	0.02128	1.00000	3.609e-5	1.755e-4	
Bile acid malabsorption	Cognition disorder	2	2	SLC10A2 (5), SLC51B (4)	0.03571	0.66667	3.613e-5	1.756e-4	366
Body weight	Diabetic polyneuropathy	2	2	CDKAL1 (2), FTO (2)	0.08333	0.22222	3.629e-5	1.761e-4	
Body weight	Synovitis	2	2	POMC (2), FTO (2)	0.08333	0.22222	3.629e-5	1.761e-4	
Congenital joint contractures	Distal arthrogryposis	2	1	PIEZO2 (4), RYR1 (1)	0.08333	0.22222	3.629e-5	1.761e-4	
Congenital anomaly of limb	Urogenital abnormalities	2	2	TGFB2 (2), HOXA11 (2)	0.08333	0.22222	3.629e-5	1.761e-4	
Charge syndrome	Male infertility spermatogenesis disorder	2	1	KMT2D (1), CHD7 (7)	0.08333	0.22222	3.629e-5	1.761e-4	
Male infertility large polyploid spermatozoa	Male infertility spermatogenesis disorder	2	2	DNHD1 (2), AURKC (3)	0.08333	0.22222	3.629e-5	1.761e-4	11
Cowden disease	Vacterl association	2	2	PTEN (6), KLLN (6)	0.08333	0.22222	3.629e-5	1.761e-4	
Hepatic insufficiency	Pulmonary edema	2	0	NOS3 (1), MAPK14 (1)	0.08333	0.22222	3.629e-5	1.761e-4	
Congenital cartilage disorder	Intervertebral disc displacement	2	2	COL11A1 (2), CHST3 (2)	0.05882	0.40000	3.656e-5	1.773e-4	
Appendicitis	Glucose-6-phosphate dehydrogenase deficiency	2	2	IL10 (2), IFNG (2)	0.05882	0.40000	3.656e-5	1.773e-4	
Lipoma	Urinary system neoplasms	2	0	TERT (1), ACTRT3 (1)	0.08696	0.16667	3.659e-5	1.773e-4	
Ductal carcinoma of breast	Hydronephrosis	2	2	PTGS2 (2), PTGER1 (2)	0.08696	0.16667	3.659e-5	1.773e-4	
Paralysis	Postsynaptic congenital myasthenic syndrome	2	2	SCN4A (4), CHRND (4)	0.08696	0.16667	3.659e-5	1.773e-4	
Brain infarction	Obstructive sleep apnea syndrome	4	0	APOE (1), SLC35F3 (1), HS3ST4 (1), ATP10A (1)	0.03509	0.11111	3.682e-5	1.784e-4	
Absence epilepsy	Ataxia	2	0	CACNA1A (1), CACNA2D2 (1)	0.07407	0.28571	3.705e-5	1.795e-4	227
Hypercholesterolemia	Vascular dementia	5	3	DOCK6 (2), APOE (3), SREBF2 (1), LPL (3), PON2 (1)	0.02941	0.10870	3.828e-5	1.854e-4	
Brain aneurysm	Dyslexia	6	0	CCDC171 (1), HDAC9 (1), RBFOX1 (1), RBMS3 (1), FHIT (1), ESRRG (1)	0.03109	0.06897	3.850e-5	1.864e-4	272
Diffuse idiopathic skeletal hyperostosis	Essential tremor	3	0	PIK3R1 (1), CDC5L (1), SUPT3H (1)	0.02830	0.27273	3.855e-5	1.866e-4	
Bile acid malabsorption	Delirium, dementia, and cognitive disorders	2	2	SLC10A2 (5), SLC51B (3)	0.03448	0.66667	3.888e-5	1.882e-4	366
Cystinuria	Myasthenic syndrome	2	2	PREPL (5), SLC3A1 (7)	0.04651	0.50000	3.935e-5	1.904e-4	
Diffuse cutaneous systemic sclerosis	Pulmonary arterial hypertension	3	1	CAV1 (4), HLA-DPB1 (1), HLA-DPA1 (1)	0.04545	0.13043	3.965e-5	1.918e-4	
Brain edema	Secondary parkinson disease	2	2	NOS2 (2), SLC18A2 (6)	0.08333	0.20000	3.968e-5	1.919e-4	
Eye disorder	Gouty arthritis	2	1	IL1B (1), POMC (2)	0.08333	0.20000	3.968e-5	1.919e-4	
Gouty arthritis	Intervertebral disc disease	2	2	IL1B (2), TGFB1 (2)	0.08333	0.20000	3.968e-5	1.919e-4	289
Neuropathy	Visual impairment	2	0	EFEMP1 (1), PNPT1 (1)	0.07692	0.25000	4.021e-5	1.944e-4	152
Severe congenital neutropenia	Shwachman-diamond syndrome	2	2	SRP19 (2), SRP54 (5)	0.07143	0.28571	4.075e-5	1.968e-4	
Iron metabolism disorder	Iron overload	2	2	CP (3), FTH1 (2)	0.07143	0.28571	4.075e-5	1.968e-4	
Dextrocardia	Heterotaxy syndrome	2	2	ZIC3 (5), CFAP53 (4)	0.07143	0.28571	4.075e-5	1.968e-4	54
Carbohydrate deficient glycoprotein syndrome	Congenital disorder of glycosylation	2	2	MAN1B1 (3), TMEM165 (4)	0.02000	1.00000	4.092e-5	1.976e-4	
Creutzfeldt-jakob disease	Erythropoietic protoporphyria	2	2	AREG (3), EREG (3)	0.06452	0.33333	4.095e-5	1.978e-4	318
Atrioventricular block	Cardiac conduction disease	2	2	TRPM4 (2), LMNA (3)	0.08000	0.22222	4.111e-5	1.984e-4	3
Hodgkin disease	Optic neuropathy	2	1	CSF3 (2), IFNA2 (1)	0.08000	0.22222	4.111e-5	1.984e-4	
Intracerebral hemorrhage	Small vessel stroke	3	1	COL4A2 (2), PMF1 (1), PMF1-BGLAP (1)	0.04348	0.14286	4.112e-5	1.984e-4	
Testicular disease	Testicular hydrocele	2	0	INHBB (1), PAX8 (1)	0.08333	0.18182	4.202e-5	2.026e-4	
Autoimmune lymphoproliferative disorder	Lymphoproliferative syndrome	2	2	FAS (6), ITK (5)	0.08333	0.18182	4.202e-5	2.026e-4	
Auditory system disease	Vascular brain injury	2	0	BMAL1 (1), RASSF10 (1)	0.08333	0.18182	4.202e-5	2.026e-4	109
Copper overload cirrhosis	Nephrosclerosis	2	2	TGFB1 (2), ACTA2 (2)	0.08333	0.18182	4.202e-5	2.026e-4	
Cardiovascular abnormalities	Cartilage disease	2	2	GATA2 (2), EDN1 (2)	0.08333	0.18182	4.202e-5	2.026e-4	
Cerebral palsy	Restrictive cardiomyopathy	3	0	CACNA1C (1), SYNE2 (1), TTN (1)	0.04478	0.13043	4.238e-5	2.042e-4	
Carpal tunnel syndrome	Prion disease	3	0	ZBTB38 (1), SEMA3A (1), ADAMTS14 (1)	0.03846	0.17647	4.261e-5	2.053e-4	
Coronary thrombosis	Platelet disorder	2	1	ITGB3 (2), GP6 (1)	0.08333	0.16667	4.322e-5	2.080e-4	
Coronary thrombosis	Intracranial hemorrhage	2	1	SCAPER (1), PLAT (2)	0.08333	0.16667	4.322e-5	2.080e-4	
Occupational disease	Papilloma	2	2	TGFB1 (2), NQO1 (2)	0.08333	0.16667	4.322e-5	2.080e-4	
Raynaud disease	Thyrotoxic periodic paralysis	2	0	C6orf15 (1), ZFHX3 (1)	0.08333	0.16667	4.322e-5	2.080e-4	
Costello syndrome	Hypophosphatemic rickets	2	1	HRAS (6), LRRC56 (1)	0.08333	0.16667	4.322e-5	2.080e-4	
Hypotrichosis simplex	Rheumatic disease	2	2	PSORS1C1 (2), CDSN (3)	0.08333	0.16667	4.322e-5	2.080e-4	
Combined oxidative phosphorylation deficiency	Mitochondrial encephalomyopathy	3	3	MTRFR (6), FARS2 (6), MRPS25 (4)	0.03659	0.18750	4.427e-5	2.130e-4	62
Cervical polyp	Female infertility	2	0	IRAK1BP1 (1), MEI4 (1)	0.01923	1.00000	4.431e-5	2.131e-4	
Anti-neutrophil antibody associated vasculitis	Pemphigus vulgaris	2	0	HLA-DQA1 (1), HLA-DQB3 (1)	0.06897	0.28571	4.462e-5	2.145e-4	1
autosomal dominant polycystic kidney disease	Polycystic liver disease	2	2	ALG8 (5), PKD2 (2)	0.06897	0.28571	4.462e-5	2.145e-4	
Renal cysts and diabetes syndrome	Testicular carcinoma	2	2	HNF1B (6), GATA4 (2)	0.03226	0.66667	4.468e-5	2.147e-4	
Renal cysts and diabetes syndrome	Testicular germ cell tumor	2	2	HNF1B (6), GATA4 (2)	0.03226	0.66667	4.468e-5	2.147e-4	
Congenital cerebellar ataxia	Spinocerebellar ataxia	2	2	GRID2 (6), GRM1 (6)	0.01905	1.00000	4.518e-5	2.171e-4	
Angelman syndrome	Rett syndrome	2	2	CDKL5 (5), MECP2 (7)	0.08000	0.20000	4.533e-5	2.177e-4	55
Patent ductus arteriosus	Tricuspid valve disease	2	0	MYH11 (1), PTPN11 (1)	0.08000	0.20000	4.533e-5	2.177e-4	
Male infertility spermatogenesis disorder	Swyer syndrome	2	0	DHX37 (1), CHD7 (1)	0.08000	0.20000	4.533e-5	2.177e-4	
Spondyloepiphyseal dysplasia	Synovitis	2	2	COL2A1 (8), WWP2 (2)	0.07692	0.22222	4.624e-5	2.218e-4	
Hepatic insufficiency	Uremia	2	2	NOS3 (2), TGFB1 (2)	0.07692	0.22222	4.624e-5	2.218e-4	
Bronchial disease	Cardiac conduction disease	2	2	FPGT-TNNI3K (2), TNNI3K (4)	0.07692	0.22222	4.624e-5	2.218e-4	3
Congenital heart septal defect	Imperforate anus	2	2	PCSK5 (2), ROBO1 (2)	0.07692	0.22222	4.624e-5	2.218e-4	
Microcephaly	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	2	2	TRMT10A (7), PPP1R15B (6)	0.01869	1.00000	4.695e-5	2.252e-4	137
Male breast carcinoma	Triple negative breast cancer	2	0	MLLT10 (1), CCDC170 (1)	0.05263	0.40000	4.713e-5	2.260e-4	38
Berardinelli-seip congenital lipodystrophy	Epithelial ovarian carcinoma	2	2	FOS (2), CAV1 (2)	0.06061	0.33333	4.762e-5	2.283e-4	79
Salivary gland neoplasms	Weber-cockayne syndrome	2	2	KRT5 (2), ITGB4 (2)	0.04255	0.50000	4.771e-5	2.287e-4	
Encephalopathy due to mitochondrial and peroxisomal fission defect	Leigh syndrome	2	2	DNM1L (3), MFF (2)	0.01852	1.00000	4.784e-5	2.292e-4	
Leigh syndrome	Thiamine metabolism dysfunction syndrome	2	2	SLC25A19 (4), TPK1 (4)	0.01852	1.00000	4.784e-5	2.292e-4	
Anhydramnios	Renal agenesis	2	1	EYA1 (1), GREB1L (2)	0.08000	0.18182	4.847e-5	2.321e-4	
Melanocytic nevus	Uterine prolapse	2	0	MAFF (1), PLA2G6 (1)	0.08000	0.18182	4.847e-5	2.321e-4	
Hemimegalencephaly	Meningioma	2	2	PTEN (3), PIK3CA (2)	0.06667	0.28571	4.866e-5	2.330e-4	
Malouf syndrome	Severe lipodystrophic laminopathy	1	1	LMNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	83
mandibular hypoplasia-deafness-progeroid syndrome	POLD1-related polyposis and colorectal cancer syndrome	1	0	POLD1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	356
mandibuloacral dysplasia with type b lipodystrophy	Tight skin contracture syndrome	1	1	ZMPSTE24 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
mandibuloacral dysplasia with type b lipodystrophy	obsolete lethal restrictive dermopathy	1	0	ZMPSTE24 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Masa syndrome	Partial corpus callosum agenesis, x-linked	1	1	L1CAM (6)	0.50000	1.00000	6.494e-5	2.342e-4	277
Masa syndrome	X-linked complicated corpus callosum dysgenesis	1	1	L1CAM (6)	0.50000	1.00000	6.494e-5	2.342e-4	277
Masa syndrome	X-linked complicated spastic paraplegia	1	1	L1CAM (7)	0.50000	1.00000	6.494e-5	2.342e-4	277
Masa syndrome	X-linked hydrocephalus with stenosis of the aqueduct of sylvius	1	1	L1CAM (7)	0.50000	1.00000	6.494e-5	2.342e-4	277
Mast cell leukemia	Telangiectasia macularis eruptiva perstans	1	1	KIT (2)	0.50000	1.00000	6.494e-5	2.342e-4	420
Mast cell leukemia	Testicular seminoma	1	0	KIT (1)	0.50000	1.00000	6.494e-5	2.342e-4	420
Mast cell leukemia	Urticaria pigmentosa	1	0	KIT (1)	0.50000	1.00000	6.494e-5	2.342e-4	420
Maternal hypertension	Rhizomelia	1	0	COL1A1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	93
maternal riboflavin deficiency	Riboflavin deficiency	1	1	SLC52A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Medullary thyroid cancer	multiple endocrine neoplasia type 2B	1	1	RET (2)	0.50000	1.00000	6.494e-5	2.342e-4	161
Medullary thyroid cancer	multiple endocrine neoplasia type 2A	1	1	RET (2)	0.50000	1.00000	6.494e-5	2.342e-4	161
meester-loeys syndrome	X-linked thoracic aortic aneurysm	1	1	BGN (2)	0.50000	1.00000	6.494e-5	2.342e-4	
meester-loeys syndrome	X-linked spondyloepimetaphyseal dysplasia	1	1	BGN (4)	0.50000	1.00000	6.494e-5	2.342e-4	
megalencephalic leukoencephalopathy with subcortical cysts 2a	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	1	0	HEPACAM (1)	0.50000	1.00000	6.494e-5	2.342e-4	
melanoma-pancreatic cancer syndrome	Trisomy	1	1	CDKN2A (2)	0.50000	1.00000	6.494e-5	2.342e-4	45
mend syndrome	X-linked dominant chondrodysplasia punctata	1	1	EBP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
menkes disease	X-linked distal spinal muscular atrophy	1	1	ATP7A (4)	0.50000	1.00000	6.494e-5	2.342e-4	402
menkes disease	X-linked distal spinal muscular atrophy type 3	1	0	ATP7A (1)	0.50000	1.00000	6.494e-5	2.342e-4	402
Metaphyseal chondrodysplasia with retinitis pigmentosa	Retinitis pigmentosa with or without skeletal anomalies	1	1	CWC27 (5)	0.50000	1.00000	6.494e-5	2.342e-4	316
Metaphyseal chondrodysplasia with retinitis pigmentosa	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	1	1	CWC27 (5)	0.50000	1.00000	6.494e-5	2.342e-4	316
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	Retinitis pigmentosa with or without skeletal anomalies	1	1	CWC27 (2)	0.50000	1.00000	6.494e-5	2.342e-4	316
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Methylmalonyl-coa mutase deficiency	1	1	MMUT (2)	0.50000	1.00000	6.494e-5	2.342e-4	
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Partial deficiency of methylmalonyl-coenzyme a mutase	1	1	MMUT (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Methylmalonyl-coa mutase deficiency	Partial deficiency of methylmalonyl-coenzyme a mutase	1	0	MMUT (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Microcephalic dwarfism	Tatton-Brown-Rahman overgrowth syndrome	1	1	DNMT3A (2)	0.50000	1.00000	6.494e-5	2.342e-4	338
microcephalic osteodysplastic dysplasia, Saul-Wilson type	Saul-wilson syndrome	1	1	COG4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
microcephaly with lissencephaly and/or hydranencephaly	Microhydranencephaly	1	1	NDE1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
microphthalmia, syndromic 12	Orbital disease	1	1	RARB (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Microstomia	Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	1	1	LEMD2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Middle lobe syndrome	townes-brocks syndrome 1	1	1	SALL1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Miles-carpenter syndrome	Wieacker syndrome	1	1	ZC4H2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Miles-carpenter syndrome	Wieacker-wolff syndrome	1	1	ZC4H2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Minor epilepsy	Nasal obstruction	1	1	NPY (2)	0.50000	1.00000	6.494e-5	2.342e-4	
mosaic SMO syndrome	Winter shortland temple syndrome	1	1	SMO (3)	0.50000	1.00000	6.494e-5	2.342e-4	297
Mucocutaneous venous malformations	TEK-related primary glaucoma	1	1	TEK (2)	0.50000	1.00000	6.494e-5	2.342e-4	257
Mucoepithelial dysplasia	Urban-schosser-spohr syndrome	1	1	SREBF1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Muenke syndrome	Thanatophoric dysplasia	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Multicystic dysplastic kidney	Renal dysplasia	1	1	HNF1B (3)	0.50000	1.00000	6.494e-5	2.342e-4	145
multiple endocrine neoplasia type 2A	multiple endocrine neoplasia type 2B	1	0	RET (1)	0.50000	1.00000	6.494e-5	2.342e-4	161
Multiple epiphyseal dysplasia with early-onset diabetes mellitus	Wolcott-rallison syndrome	1	1	EIF2AK3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	357
Multisystem disorder	TOR1AIP1-related multisystem disorder	1	1	TOR1AIP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Multisystem disorder	TOR1AIP1-related myopathy	1	1	TOR1AIP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
MYH7-related skeletal myopathy	Myosin storage myopathy	1	1	MYH7 (3)	0.50000	1.00000	6.494e-5	2.342e-4	104
myopathy, myofibrillar, 9, with early respiratory failure	Progressive contractures limb-girdle weakness muscle dystrophy syndrome	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
myopathy, myofibrillar, 9, with early respiratory failure	tibial muscular dystrophy	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
myopathy, myofibrillar, 9, with early respiratory failure	TTN-related myopathy, dominant-negative TTNsv	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
Myotonia	Potassium-aggravated myotonia	1	1	SCN4A (2)	0.50000	1.00000	6.494e-5	2.342e-4	170
Myotonia	SCN4A-related myopathy, autosomal recessive	1	1	SCN4A (2)	0.50000	1.00000	6.494e-5	2.342e-4	170
Natural killer cell deficiency	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	1	1	MCM4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Nebulin-related myopathy	nemaline myopathy 2	1	1	NEB (2)	0.50000	1.00000	6.494e-5	2.342e-4	333
Neonatal anemia	Perinatal hemolytic anemia	1	1	SPTB (2)	0.50000	1.00000	6.494e-5	2.342e-4	271
neonatal encephalopathy with non-epileptic myoclonus	neonatal-onset developmental and epileptic encephalopathy	1	0	KCNQ2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	213
Neonatal hyperbilirubinemia	Serum bilirubin level	1	1	UGT1A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
neonatal-onset encephalopathy with rigidity and seizures	Rigidity and multifocal seizure syndrome, lethal neonatal	1	1	BRAT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
neonatal-onset encephalopathy with rigidity and seizures	neurodevelopmental disorder with cerebellar atrophy and with or without seizures	1	0	BRAT1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Nephropathy with pretibial epidermolysis bullosa and deafness	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	1	1	CD151 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Nephropathy with pretibial epidermolysis bullosa and deafness	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	1	1	CD151 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	1	1	CD151 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Neurodegeneration peripheral neuropathy syndrome	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	1	1	CLCN6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	1	0	CAPRIN1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
neurodegenerative disease	Regressive neurodevelopmental disorder dystonia seizures	1	1	IRF2BPL (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Progressive contractures limb-girdle weakness muscle dystrophy syndrome	TTN-related myopathy	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
Early-onset myopathy with fatal cardiomyopathy	TTN-related myopathy	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
myopathy, myofibrillar, 9, with early respiratory failure	TTN-related myopathy	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
tibial muscular dystrophy	TTN-related myopathy	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
dilated cardiomyopathy 1G	TTN-related myopathy	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
TUBB4A-related neurologic disorder	Whispering dysphonia	1	1	TUBB4A (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Ureteral neoplasms	Urinary bladder calculi	1	0	AHR (1)	0.50000	1.00000	6.494e-5	2.342e-4	203
Ureteral neoplasms	Urinary bladder stone	1	1	AHR (2)	0.50000	1.00000	6.494e-5	2.342e-4	203
Urinary bladder calculi	Urinary bladder stone	1	1	AHR (2)	0.50000	1.00000	6.494e-5	2.342e-4	203
Urocanase deficiency	Urocanate hydratase deficiency	1	1	UROC1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
Urocanase deficiency	urocanic aciduria	1	1	UROC1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Urocanate hydratase deficiency	urocanic aciduria	1	1	UROC1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Uruguay faciocardio-musculoskeletal syndrome	X-linked scapuloperoneal muscular dystrophy	1	1	FHL1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	433
Van esch-o’driscoll syndrome	X-linked reticulate pigmentary disorder	1	1	POLA1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
ventriculomegaly and arthrogryposis	Ventriculomegaly with arthrogryposis	1	1	KIDINS220 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Waardenburg syndrome type 4C	Yemenite deaf-blind hypopigmentation syndrome	1	1	SOX10 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Wagner disease	Wagner syndrome	1	1	VCAN (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Wieacker syndrome	Wieacker-wolff syndrome	1	1	ZC4H2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
X-linked agammaglobulinemia	X-linked hypogammaglobulinemia	1	1	BTK (3)	0.50000	1.00000	6.494e-5	2.342e-4	406
X-linked cerebral cerebellar coloboma syndrome	X-linked optic atrophy	1	0	WDR45 (1)	0.50000	1.00000	6.494e-5	2.342e-4	412
X-linked complicated corpus callosum dysgenesis	X-linked complicated spastic paraplegia	1	1	L1CAM (5)	0.50000	1.00000	6.494e-5	2.342e-4	277
X-linked complicated corpus callosum dysgenesis	X-linked hydrocephalus with stenosis of the aqueduct of sylvius	1	1	L1CAM (4)	0.50000	1.00000	6.494e-5	2.342e-4	277
X-linked complicated spastic paraplegia	X-linked hydrocephalus with stenosis of the aqueduct of sylvius	1	1	L1CAM (3)	0.50000	1.00000	6.494e-5	2.342e-4	277
X-linked distal spinal muscular atrophy	X-linked distal spinal muscular atrophy type 3	1	1	ATP7A (4)	0.50000	1.00000	6.494e-5	2.342e-4	402
X-linked dominant hypophosphatemic rickets	X-linked hypophosphatemia	1	1	PHEX (3)	0.50000	1.00000	6.494e-5	2.342e-4	
X-linked ehlers-danlos syndrome	X-linked keloid scarring syndrome	1	1	FLNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	42
X-linked epilepsy with learning disability and behavior disorder syndrome	X-linked epilepsy with variable learning disabilities and behavior disorders	1	1	SYN1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
X-linked epilepsy with learning disability and behavior disorder syndrome	X-linked epilepsy-learning disabilities-behavior disorders syndrome	1	1	SYN1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
X-linked epilepsy with variable learning disabilities and behavior disorders	X-linked epilepsy-learning disabilities-behavior disorders syndrome	1	1	SYN1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
X-linked hereditary sensory and autonomic neuropathy with deafness	X-linked hereditary sensory and autonomic neuropathy with hearing loss	1	1	AIFM1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	367
X-linked lissencephaly	X-linked spasticity-intellectual disability-epilepsy syndrome	1	1	ARX (5)	0.50000	1.00000	6.494e-5	2.342e-4	255
X-linked Opitz G/BBB syndrome	X-linked opitz syndrome	1	1	MID1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
X-linked severe congenital neutropenia	X-linked thrombocytopenia	1	1	WAS (4)	0.50000	1.00000	6.494e-5	2.342e-4	
X-linked spondyloepimetaphyseal dysplasia	X-linked thoracic aortic aneurysm	1	1	BGN (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Xerosis with immune and pulmonary dysfunction syndrome	Xgip syndrome	1	1	DBR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Zhu-tokita-takenouchi-kim syndrome	zttk syndrome	1	1	SON (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Zinc deficiency	zinc deficiency, transient neonatal	1	1	SLC30A2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Periventricular heterotopia with microcephaly, autosomal recessive	Periventricular laminar heterotopia	1	1	ARFGEF2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Phenylketonuria	Tetrahydrobiopterin-responsive phenylketonuria	1	1	PAH (5)	0.50000	1.00000	6.494e-5	2.342e-4	
phosphoribosylpyrophosphate synthetase superactivity	Prpp synthetase superactivity	1	1	PRPS1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	253
phosphoribosylpyrophosphate synthetase superactivity	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	1	1	PRPS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	253
phosphoribosylpyrophosphate synthetase superactivity	PRPS1 deficiency disorder	1	0	PRPS1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	253
PIK3R1-related immunodeficiency and SHORT syndrome	Short syndrome	1	1	PIK3R1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	376
platelet-type bleeding disorder 12	Sleep deprivation	1	1	PTGS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
platelet-type bleeding disorder 17	Thrombasthenia-thrombocytopenia	1	1	GFI1B (3)	0.50000	1.00000	6.494e-5	2.342e-4	
platelet-type bleeding disorder 20	Thrombocytopenia with platelet secretion defect	1	1	SLFN14 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Collagenopathy	platyspondylic dysplasia, Torrance type	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coxa plana	platyspondylic dysplasia, Torrance type	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
Czech dysplasia	platyspondylic dysplasia, Torrance type	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
Dysspondyloenchondromatosis	platyspondylic dysplasia, Torrance type	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
kniest dysplasia	platyspondylic dysplasia, Torrance type	1	0	COL2A1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	15
PNPLA6-related spastic paraplegia with or without ataxia	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
PNPLA6-related spastic paraplegia with or without ataxia	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	1	0	PNPLA6 (1)	0.50000	1.00000	6.494e-5	2.342e-4	121
POLR1C-related disorder	treacher collins syndrome 3	1	0	POLR1C (1)	0.50000	1.00000	6.494e-5	2.342e-4	
POLR3A-related disorder	Wiedemann-rautenstrauch syndrome	1	1	POLR3A (4)	0.50000	1.00000	6.494e-5	2.342e-4	59
polycystic liver disease 4 with or without kidney cysts	Worth syndrome	1	1	LRP5 (4)	0.50000	1.00000	6.494e-5	2.342e-4	123
Potassium-aggravated myotonia	SCN4A-related myopathy, autosomal recessive	1	1	SCN4A (3)	0.50000	1.00000	6.494e-5	2.342e-4	170
Preaxial polydactyly with upper back hypertrichosis	Skeletal system disorder	1	1	SHH (2)	0.50000	1.00000	6.494e-5	2.342e-4	230
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	sinoatrial node dysfunction and deafness	1	1	CACNA1D (3)	0.50000	1.00000	6.494e-5	2.342e-4	116
Primary hypomagnesemia with hypocalciuria	renal hypomagnesemia 2	1	1	FXYD2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Progressive contractures limb-girdle weakness muscle dystrophy syndrome	tibial muscular dystrophy	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
Progressive contractures limb-girdle weakness muscle dystrophy syndrome	TTN-related myopathy, dominant-negative TTNsv	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Sensorineural hearing loss thrombocytopenia syndrome	1	1	DIAPH1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	157
PROM1-related dominant retinopathy	PROM1-related recessive retinopathy	1	0	PROM1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Prpp synthetase superactivity	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	1	1	PRPS1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	253
Prpp synthetase superactivity	PRPS1 deficiency disorder	1	1	PRPS1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	253
PRPS1 deficiency disorder	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	1	1	PRPS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	253
pseudohyperaldosteronism type 2	Pseudohypoaldosteronism	1	1	NR3C2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
pyridoxal phosphate-responsive seizures	Pyridoxamine 5'-phosphate oxidase deficiency	1	1	PNPO (2)	0.50000	1.00000	6.494e-5	2.342e-4	
RDH12-related dominant retinopathy	RDH12-related recessive retinopathy	1	0	RDH12 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Reducing body myopathy	Uruguay faciocardio-musculoskeletal syndrome	1	1	FHL1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	433
Reducing body myopathy	X-linked scapuloperoneal muscular dystrophy	1	1	FHL1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	433
regressive spondylometaphyseal dysplasia	Reynolds syndrome	1	1	LBR (5)	0.50000	1.00000	6.494e-5	2.342e-4	281
regressive spondylometaphyseal dysplasia	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	1	1	LBR (2)	0.50000	1.00000	6.494e-5	2.342e-4	281
Respiratory distress with surfactant metabolism deficiency	SFTPC-related interstitial lung disease	1	1	SFTPC (4)	0.50000	1.00000	6.494e-5	2.342e-4	
retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Type i interferonopathy	1	1	TREX1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	159
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	TREX1-related type 1 interferonopathy	1	0	TREX1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	159
Retinitis pigmentosa and erythrocytic microcytosis	Sideroblastic anemia with b-cell immunodeficiency	1	1	TRNT1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
Retinitis pigmentosa with choroidal involvement	RPE65-related recessive retinopathy	1	1	RPE65 (5)	0.50000	1.00000	6.494e-5	2.342e-4	400
Retinitis pigmentosa with choroidal involvement	RPE65-related dominant retinopathy	1	1	RPE65 (5)	0.50000	1.00000	6.494e-5	2.342e-4	400
Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness	RPGR-related retinopathy	1	1	RPGR (5)	0.50000	1.00000	6.494e-5	2.342e-4	385
Revesz debuse syndrome	Revesz syndrome	1	1	TINF2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	345
Reynolds syndrome	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	1	1	LBR (4)	0.50000	1.00000	6.494e-5	2.342e-4	281
rhabdoid tumor predisposition syndrome 2	Small cell ovary carcinoma	1	1	SMARCA4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	261
Rhabdomyoma	Sacroiliitis	1	1	POMC (2)	0.50000	1.00000	6.494e-5	2.342e-4	101
Ribose 5-phosphate isomerase deficiency	Ribose-5-phosphate isomerase deficiency	1	1	RPIA (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Richieri costa pereira syndrome	Robin sequence with cleft mandible and limb anomalies	1	1	EIF4A3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Rickets, x-linked hypophosphatemic	X-linked dominant hypophosphatemic rickets	1	1	PHEX (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Rickets, x-linked hypophosphatemic	X-linked hypophosphatemia	1	1	PHEX (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Right bundle branch block	Right cardiac ventricular dilatation	1	0	BMPR2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Roberts syndrome	Roberts-sc phocomelia syndrome	1	1	ESCO2 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
RP1-related dominant retinopathy	RP1-related recessive retinopathy	1	0	RP1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
RP2-related retinopathy	X-linked retinitis pigmentosa	1	1	RP2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
RPE65-related dominant retinopathy	RPE65-related recessive retinopathy	1	0	RPE65 (1)	0.50000	1.00000	6.494e-5	2.342e-4	400
Rudiger syndrome	Sweat gland neoplasm	1	1	TP63 (2)	0.50000	1.00000	6.494e-5	2.342e-4	30
Sacroiliac arthritis	Sacroiliac joint synovitis	1	0	RELN (1)	0.50000	1.00000	6.494e-5	2.342e-4	209
neurodevelopmental disorder with cerebellar atrophy and with or without seizures	Rigidity and multifocal seizure syndrome, lethal neonatal	1	1	BRAT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	1	0	UNC13A (1)	0.50000	1.00000	6.494e-5	2.342e-4	
neurodevelopmental disorder with microcephaly and dysmorphic facies	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	1	0	SPOP (1)	0.50000	1.00000	6.494e-5	2.342e-4	
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	1	0	NARS1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
neurofibromatosis type 1	Watson syndrome	1	1	NF1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	71
NOG-related symphalangism spectrum disorder	Proximal symphalangism	1	1	NOG (2)	0.50000	1.00000	6.494e-5	2.342e-4	
normophosphatemic familial tumoral calcinosis	SAMD9-related spectrum and myeloid neoplasm risk	1	0	SAMD9 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
obsolete hereditary ATTR amyloidosis	Senile systemic amyloidosis	1	1	TTR (2)	0.50000	1.00000	6.494e-5	2.342e-4	185
obsolete hereditary ATTR amyloidosis	Transthyretin amyloid cardiomyopathy	1	1	TTR (2)	0.50000	1.00000	6.494e-5	2.342e-4	185
obsolete hereditary ATTR amyloidosis	Wild-type transthyretin-related amyloidosis	1	1	TTR (2)	0.50000	1.00000	6.494e-5	2.342e-4	185
obsolete lethal restrictive dermopathy	Tight skin contracture syndrome	1	1	ZMPSTE24 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cooleys anemia	obsolete sickle cell disease and related diseases	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	obsolete sickle cell disease and related diseases	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	obsolete sickle cell disease and related diseases	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	obsolete sickle cell disease and related diseases	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin d disease	obsolete sickle cell disease and related diseases	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
occult macular dystrophy	Ulnar-fibular ray defect and brachydactyly	1	1	RP1L1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Ocular dysgenesis	ocular dysgenesis caused by defects in PAX6 regulation	1	1	ELP4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Oculocerebrofacial syndrome	oculocerebrofacial syndrome, Kaufman type	1	1	UBE3B (3)	0.50000	1.00000	6.494e-5	2.342e-4	
oculocutaneous albinism type 1	Temperature-sensitive oculocutaneous albinism	1	1	TYR (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Oropharyngeal dysphagia	X-linked non progressive cerebellar ataxia	1	1	ATP2B3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	422
Osteofibrous dysplasia	papillary renal cell carcinoma	1	1	MET (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Osteoglophonic dwarfism	Osteoglophonic dysplasia	1	1	FGFR1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	139
Osteoglophonic dwarfism	Pfeiffer syndrome type 1	1	1	FGFR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	139
Osteoglophonic dysplasia	Pfeiffer syndrome type 1	1	1	FGFR1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	139
Other specified diabetes mellitus with unspecified complications	Wolfram-like syndrome	1	1	WFS1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
Otodental dysplasia	Otodental syndrome	1	1	FGF3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	278
Otopalatodigital spectrum disorder	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.50000	1.00000	6.494e-5	2.342e-4	42
Otopalatodigital spectrum disorder	X-linked ehlers-danlos syndrome	1	1	FLNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	42
Otopalatodigital spectrum disorder	X-linked keloid scarring syndrome	1	1	FLNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	42
Panniculitis	Thiamine deficiency	1	1	SERPINA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	236
Parastremmatic dwarfism	Scapuloperoneal spinal muscular atrophy	1	1	TRPV4 (7)	0.50000	1.00000	6.494e-5	2.342e-4	218
Parastremmatic dwarfism	TRPV4-related bone disorder	1	1	TRPV4 (6)	0.50000	1.00000	6.494e-5	2.342e-4	218
Parathyroid carcinoma	Parathyroid neoplasm	1	1	CDC73 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Paris-trousseau thrombocytopenia	Peripheral primitive neuroectodermal tumor	1	1	FLI1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Parkinsonism with cognitive impairment	Waisman syndrome	1	1	RAB39B (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Parkinsonism with spasticity, x-linked	X-linked parkinsonism-spasticity syndrome	1	1	ATP6AP2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Partial corpus callosum agenesis, x-linked	X-linked complicated corpus callosum dysgenesis	1	1	L1CAM (6)	0.50000	1.00000	6.494e-5	2.342e-4	277
Partial corpus callosum agenesis, x-linked	X-linked complicated spastic paraplegia	1	1	L1CAM (5)	0.50000	1.00000	6.494e-5	2.342e-4	277
Partial corpus callosum agenesis, x-linked	X-linked hydrocephalus with stenosis of the aqueduct of sylvius	1	1	L1CAM (4)	0.50000	1.00000	6.494e-5	2.342e-4	277
Patent ductus venosus	Ureteral neoplasms	1	1	AHR (2)	0.50000	1.00000	6.494e-5	2.342e-4	203
Patent ductus venosus	Urinary bladder calculi	1	1	AHR (2)	0.50000	1.00000	6.494e-5	2.342e-4	203
Patent ductus venosus	Urinary bladder stone	1	1	AHR (2)	0.50000	1.00000	6.494e-5	2.342e-4	203
Peripheral neuropathy myopathy hoarseness hearing loss syndrome	Peripheral neuropathy, myopathy, hoarseness, and hearing	1	1	MYH14 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Sarcosine dehydrogenase deficiency	Sarcosinemia	1	1	SARDH (6)	0.50000	1.00000	6.494e-5	2.342e-4	
SATB2 associated disorder	Satb2 associated syndrome	1	1	SATB2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	197
Scapuloperoneal spinal muscular atrophy	TRPV4-related bone disorder	1	1	TRPV4 (6)	0.50000	1.00000	6.494e-5	2.342e-4	218
Schwartz-Jampel syndrome type 1	Silverman-Handmaker type dyssegmental dysplasia	1	0	HSPG2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	146
Senile systemic amyloidosis	Transthyretin amyloid cardiomyopathy	1	0	TTR (1)	0.50000	1.00000	6.494e-5	2.342e-4	185
Senile systemic amyloidosis	Wild-type transthyretin-related amyloidosis	1	0	TTR (1)	0.50000	1.00000	6.494e-5	2.342e-4	185
Serrated polyposis	sessile serrated polyposis cancer syndrome	1	1	RNF43 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	1	0	SETD2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Achondroplasia	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	1	1	FGFR3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptodactyly, tall stature, and hearing loss syndrome	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	1	1	FGFR3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	130
Catshl syndrome	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	1	1	FGFR3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	130
Crouzon syndrome with acanthosis nigricans	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Muenke syndrome	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	X-linked congenital generalized hypertrichosis	1	1	SOX3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
spastic paraplegia, intellectual disability, nystagmus, and obesity	Ventriculomegaly with arthrogryposis	1	1	KIDINS220 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
spastic paraplegia, intellectual disability, nystagmus, and obesity	ventriculomegaly and arthrogryposis	1	0	KIDINS220 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Splenic neoplasms	Woolly hair nevus	1	1	HRAS (2)	0.50000	1.00000	6.494e-5	2.342e-4	17
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Warburg-cinotti syndrome	1	1	DDR2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Collagenopathy	Stickler syndrome type 1	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coxa plana	Stickler syndrome type 1	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
Czech dysplasia	Stickler syndrome type 1	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
Dysspondyloenchondromatosis	Stickler syndrome type 1	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
kniest dysplasia	Stickler syndrome type 1	1	0	COL2A1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	15
Sweeney-cox syndrome	TWIST1-related craniosynostosis	1	1	TWIST1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	250
T-B+ severe combined immunodeficiency due to gamma chain deficiency	X-linked severe combined immunodeficiency	1	1	IL2RG (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Telangiectasia macularis eruptiva perstans	Testicular seminoma	1	1	KIT (2)	0.50000	1.00000	6.494e-5	2.342e-4	420
Telangiectasia macularis eruptiva perstans	Urticaria pigmentosa	1	1	KIT (2)	0.50000	1.00000	6.494e-5	2.342e-4	420
TELO2-related intellectual disability-neurodevelopmental disorder	You-hoover-fong syndrome	1	1	TELO2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Terminal osseous dysplasia with pigmentary defects	X-linked ehlers-danlos syndrome	1	1	FLNA (6)	0.50000	1.00000	6.494e-5	2.342e-4	42
Terminal osseous dysplasia with pigmentary defects	X-linked keloid scarring syndrome	1	1	FLNA (6)	0.50000	1.00000	6.494e-5	2.342e-4	42
Testicular seminoma	Urticaria pigmentosa	1	0	KIT (1)	0.50000	1.00000	6.494e-5	2.342e-4	420
Cooleys anemia	Thalassemia intermedia	1	0	HBB (1)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Thalassemia intermedia	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Thalassemia intermedia	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Thalassemia intermedia	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin d disease	Thalassemia intermedia	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
thrombocythemia 1	Thrombocythemia with distal limb defects	1	1	THPO (3)	0.50000	1.00000	6.494e-5	2.342e-4	98
Thrombocytopenia with anemia and myelofibrosis	thrombocytopenia, anemia, and myelofibrosis	1	1	MPIG6B (6)	0.50000	1.00000	6.494e-5	2.342e-4	
tibial muscular dystrophy	TTN-related myopathy, dominant-negative TTNsv	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
tooth agenesis, selective, 1	Tooth and nail syndrome	1	1	MSX1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	205
tooth agenesis, selective, 1	Witkop syndrome	1	1	MSX1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	205
Tooth and nail syndrome	Witkop syndrome	1	1	MSX1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	205
TOR1AIP1-related multisystem disorder	TOR1AIP1-related myopathy	1	0	TOR1AIP1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Transthyretin amyloid cardiomyopathy	Wild-type transthyretin-related amyloidosis	1	0	TTR (1)	0.50000	1.00000	6.494e-5	2.342e-4	185
TREX1-related type 1 interferonopathy	Type i interferonopathy	1	1	TREX1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	159
Intellectual developmental disorder short stature facial	Intellectual developmental disorder short stature facial speech	1	1	FBXL3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder speech dysmorphic t-cell	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	1	1	BCL11B (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Interrupted aortic arch	NKX2.5-related congenital, conduction and myopathic heart disease	1	1	NKX2-5 (2)	0.50000	1.00000	6.494e-5	2.342e-4	166
Intestinal aganglionosis	Waardenburg syndrome type 4A	1	1	EDNRB (2)	0.50000	1.00000	6.494e-5	2.342e-4	
IRF6-related condition	Popliteal pterygium syndrome	1	1	IRF6 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
joubert syndrome 1	MORM syndrome	1	0	INPP5E (1)	0.50000	1.00000	6.494e-5	2.342e-4	
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Myhre syndrome	1	1	SMAD4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
KAT6B-related multiple congenital anomalies syndrome	Simpson syndrome	1	1	KAT6B (3)	0.50000	1.00000	6.494e-5	2.342e-4	
KCNH1 associated disorder	Temple-baraitser syndrome	1	1	KCNH1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Kennedy disease	Partial androgen insensitivity syndrome	1	1	AR (4)	0.50000	1.00000	6.494e-5	2.342e-4	204
Kenny caffey syndrome	Sanjad-sakati syndrome	1	1	TBCE (3)	0.50000	1.00000	6.494e-5	2.342e-4	222
Kindler epidermolysis bullosa	kindler syndrome	1	1	FERMT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
kniest dysplasia	spondyloperipheral dysplasia	1	0	COL2A1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	15
Krabbe disease due to saposin A deficiency	metachromatic leukodystrophy due to saposin B deficiency	1	0	PSAP (1)	0.50000	1.00000	6.494e-5	2.342e-4	114
L1 syndrome	Partial corpus callosum agenesis, x-linked	1	1	L1CAM (4)	0.50000	1.00000	6.494e-5	2.342e-4	277
L1 syndrome	Masa syndrome	1	1	L1CAM (7)	0.50000	1.00000	6.494e-5	2.342e-4	277
L1 syndrome	X-linked complicated corpus callosum dysgenesis	1	1	L1CAM (4)	0.50000	1.00000	6.494e-5	2.342e-4	277
L1 syndrome	X-linked complicated spastic paraplegia	1	1	L1CAM (4)	0.50000	1.00000	6.494e-5	2.342e-4	277
L1 syndrome	X-linked hydrocephalus with stenosis of the aqueduct of sylvius	1	1	L1CAM (2)	0.50000	1.00000	6.494e-5	2.342e-4	277
Lafora body disease	Progressive myoclonic epilepsy with intracellular inclusions	1	1	PRDM8 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Leprechaunism syndrome	Type a insulin resistance syndrome	1	1	INSR (2)	0.50000	1.00000	6.494e-5	2.342e-4	274
lesch-nyhan syndrome	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	1	1	HPRT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Lethal neonatal rigidity and multifocal seizure syndrome	Rigidity and multifocal seizure syndrome, lethal neonatal	1	1	BRAT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Lethal neonatal rigidity and multifocal seizure syndrome	neurodevelopmental disorder with cerebellar atrophy and with or without seizures	1	1	BRAT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Lethal neonatal rigidity and multifocal seizure syndrome	neonatal-onset encephalopathy with rigidity and seizures	1	1	BRAT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
leukemia, acute lymphoblastic, susceptibility to, 3	PAX5-related B lymphopenia and autism spectrum disorder	1	0	PAX5 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
liberfarb syndrome	Short stature skeletal dysplasia retinal degeneration intellectual disability hearing loss syndrome	1	1	PISD (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Limb-mammary syndrome	Rudiger syndrome	1	1	TP63 (5)	0.50000	1.00000	6.494e-5	2.342e-4	30
Limb-mammary syndrome	Sweat gland neoplasm	1	1	TP63 (5)	0.50000	1.00000	6.494e-5	2.342e-4	30
Lipoatrophic diabetes mellitus	Severe lipodystrophic laminopathy	1	1	LMNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	83
Lipoatrophic diabetes mellitus	Malouf syndrome	1	0	LMNA (1)	0.50000	1.00000	6.494e-5	2.342e-4	83
LRP5-related exudative vitreoretinopathy	Worth syndrome	1	1	LRP5 (4)	0.50000	1.00000	6.494e-5	2.342e-4	123
LRP5-related exudative vitreoretinopathy	polycystic liver disease 4 with or without kidney cysts	1	0	LRP5 (1)	0.50000	1.00000	6.494e-5	2.342e-4	123
lymphedema-distichiasis syndrome	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	1	1	FOXC2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Lymphoproliferative disorder of natural killer cells	STAT3-related early-onset multisystem autoimmune disease	1	1	STAT3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	167
lysosomal acid lipase deficiency	Wolman disease	1	1	LIPA (6)	0.50000	1.00000	6.494e-5	2.342e-4	
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Sebastian syndrome	1	1	MYH9 (2)	0.50000	1.00000	6.494e-5	2.342e-4	407
Malan overgrowth syndrome	Malan syndrome	1	1	NFIX (6)	0.50000	1.00000	6.494e-5	2.342e-4	287
Malan overgrowth syndrome	marshall-smith syndrome	1	0	NFIX (1)	0.50000	1.00000	6.494e-5	2.342e-4	287
Malan syndrome	marshall-smith syndrome	1	1	NFIX (6)	0.50000	1.00000	6.494e-5	2.342e-4	287
malignant hyperthermia, susceptibility to, 1	RYR1-related myopathy	1	0	RYR1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	268
malignant hyperthermia, susceptibility to, 5	Periodic paralysis with transient compartment-like syndrome	1	1	CACNA1S (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Dysalbuminemic hyperthyroxinemia	hyperthyroxinemia, familial dysalbuminemic	1	1	ALB (2)	0.50000	1.00000	6.494e-5	2.342e-4	314
dyschromatosis universalis hereditaria 3	microphthalmia, isolated, with coloboma 7	1	0	ABCB6 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Dyserythropoietic anemia with abnormal platelets and neutropenia	Dyserythropoietic anemia with thrombocytopenia	1	1	GATA1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	132
Dyserythropoietic anemia with abnormal platelets and neutropenia	Thrombocytopenia with dyserythropoietic anemia	1	1	GATA1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	132
Dyserythropoietic anemia with abnormal platelets and neutropenia	GATA1-Related X-Linked Cytopenia	1	1	GATA1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	132
Dyserythropoietic anemia with thrombocytopenia	Thrombocytopenia with dyserythropoietic anemia	1	1	GATA1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	132
Dyserythropoietic anemia with thrombocytopenia	GATA1-Related X-Linked Cytopenia	1	1	GATA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	132
Dysgnathia complex	Retrognathia	1	0	PRRX1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	381
dyskeratosis congenita, autosomal dominant 3	Revesz debuse syndrome	1	1	TINF2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	345
dyskeratosis congenita, autosomal dominant 3	Revesz syndrome	1	1	TINF2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	345
Dyskinesia with orofacial involvement	Dyskinesia, familial, with facial myokymia	1	1	ADCY5 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Collagenopathy	dysplasia of the proximal femoral epiphyses	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coxa plana	dysplasia of the proximal femoral epiphyses	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
Czech dysplasia	dysplasia of the proximal femoral epiphyses	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
dysplasia of the proximal femoral epiphyses	Dysspondyloenchondromatosis	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
dysplasia of the proximal femoral epiphyses	kniest dysplasia	1	0	COL2A1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	15
Dysspondyloenchondromatosis	kniest dysplasia	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
Dysspondyloenchondromatosis	spondyloperipheral dysplasia	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
Dystransthyretinemic euthyroidal hyperthyroxinemia	Senile systemic amyloidosis	1	1	TTR (2)	0.50000	1.00000	6.494e-5	2.342e-4	185
Dystransthyretinemic euthyroidal hyperthyroxinemia	Transthyretin amyloid cardiomyopathy	1	1	TTR (2)	0.50000	1.00000	6.494e-5	2.342e-4	185
Dystransthyretinemic euthyroidal hyperthyroxinemia	Wild-type transthyretin-related amyloidosis	1	1	TTR (2)	0.50000	1.00000	6.494e-5	2.342e-4	185
Dystransthyretinemic euthyroidal hyperthyroxinemia	obsolete hereditary ATTR amyloidosis	1	1	TTR (3)	0.50000	1.00000	6.494e-5	2.342e-4	185
Dystrophinopathy	progressive muscular dystrophy	1	1	DMD (2)	0.50000	1.00000	6.494e-5	2.342e-4	212
Ear disease	SLC26A2-related skeletal dysplasia	1	1	SLC26A2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	190
Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome	1	1	KARS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset calcifying leukoencephalopathy-skeletal dysplasia	leukoencephalopathy, diffuse hereditary, with spheroids 1	1	1	CSF1R (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset combined immunodeficiency with low ig due to dominant-negative ikaros mutation	pancytopenia due to IKZF1 mutations	1	1	IKZF1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset hypertension with severe exacerbation in pregnancy	Pseudohypoaldosteronism	1	1	NR3C2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset hypertension with severe exacerbation in pregnancy	pseudohyperaldosteronism type 2	1	1	NR3C2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset immune dysregulation due to dock11 complete deficiency	Early-onset immune dysregulation with autoimmunity due to dock11 partial deficiency	1	1	DOCK11 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset myopathy with fatal cardiomyopathy	Progressive contractures limb-girdle weakness muscle dystrophy syndrome	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
Early-onset myopathy with fatal cardiomyopathy	myopathy, myofibrillar, 9, with early respiratory failure	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
Early-onset myopathy with fatal cardiomyopathy	tibial muscular dystrophy	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
Early-onset myopathy with fatal cardiomyopathy	TTN-related myopathy, dominant-negative TTNsv	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	MEGF10-related myopathy	1	1	MEGF10 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset parkinsonism-intellectual disability syndrome	Parkinsonism with cognitive impairment	1	1	RAB39B (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset parkinsonism-intellectual disability syndrome	Waisman syndrome	1	1	RAB39B (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	Kenny caffey syndrome	1	1	TBCE (4)	0.50000	1.00000	6.494e-5	2.342e-4	222
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	Sanjad-sakati syndrome	1	1	TBCE (2)	0.50000	1.00000	6.494e-5	2.342e-4	222
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	encephalopathy, progressive, with amyotrophy and optic atrophy	1	1	TBCE (3)	0.50000	1.00000	6.494e-5	2.342e-4	222
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	Intellectual developmental disorder dysmorphic seizures	1	1	OTUD6B (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency	Ocular albinism with sensorineural deafness	1	0	AP3D1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	432
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency	hermansky-pudlak syndrome 10	1	1	AP3D1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	432
East texas bleeding disorder	thrombophilia due to activated protein c resistance	1	1	F5 (4)	0.50000	1.00000	6.494e-5	2.342e-4	84
ectodermal dysplasia WNT10A related	Schopf-schulz-passarge syndrome	1	1	WNT10A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Limb-mammary syndrome	1	1	TP63 (6)	0.50000	1.00000	6.494e-5	2.342e-4	30
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Rudiger syndrome	1	1	TP63 (2)	0.50000	1.00000	6.494e-5	2.342e-4	30
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Sweat gland neoplasm	1	1	TP63 (2)	0.50000	1.00000	6.494e-5	2.342e-4	30
EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition	Hemoglobin high altitude adaptation	1	1	EGLN1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
ehlers-danlos syndrome, vascular type	Vascular ehlers-danlos syndrome	1	1	COL3A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	350
ELOVL4-related maculopathy	Erythrokeratodermia with ataxia	1	1	ELOVL4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Emery dreifuss muscular dystrophy	Severe lipodystrophic laminopathy	1	1	LMNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	83
Emery dreifuss muscular dystrophy	Lipoatrophic diabetes mellitus	1	1	LMNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	83
Emery dreifuss muscular dystrophy	Malouf syndrome	1	1	LMNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	83
Encephaloclastic proliferative vasculopathy	Fowler syndrome	1	1	FLVCR2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
encephalopathy, progressive, with amyotrophy and optic atrophy	Kenny caffey syndrome	1	1	TBCE (4)	0.50000	1.00000	6.494e-5	2.342e-4	222
encephalopathy, progressive, with amyotrophy and optic atrophy	Sanjad-sakati syndrome	1	1	TBCE (2)	0.50000	1.00000	6.494e-5	2.342e-4	222
enhanced s-cone syndrome	Goldmann-favre syndrome	1	1	NR2E3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (3)	0.50000	1.00000	6.494e-5	2.342e-4	229
Epilepsy with myoclonic absence	Glucose transporter type 1 deficiency syndrome	1	1	SLC2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	99
Epilepsy with myoclonic absence	GLUT1 deficiency syndrome	1	1	SLC2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	99
episodic ataxia type 1	Hereditary continuous muscle fiber activity	1	1	KCNA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	85
Erythrocyte galactose epimerase deficiency	Erythrocyte udp-galactose-4-epimerase deficiency	1	1	GALE (2)	0.50000	1.00000	6.494e-5	2.342e-4	358
Erythrocyte galactose epimerase deficiency	Udp-glucose 4-epimerase deficiency	1	1	GALE (3)	0.50000	1.00000	6.494e-5	2.342e-4	358
Erythrocyte galactose epimerase deficiency	galactose epimerase deficiency	1	1	GALE (2)	0.50000	1.00000	6.494e-5	2.342e-4	358
Erythrocyte lactate transporter defect	Fatty acid and ketone body metabolism disorder	1	1	SLC16A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Erythrocyte lactate transporter defect	Fatty acid oxidation and ketone body metabolism disorder	1	1	SLC16A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Erythrocyte udp-galactose-4-epimerase deficiency	Udp-glucose 4-epimerase deficiency	1	1	GALE (2)	0.50000	1.00000	6.494e-5	2.342e-4	358
Erythrocyte udp-galactose-4-epimerase deficiency	galactose epimerase deficiency	1	1	GALE (2)	0.50000	1.00000	6.494e-5	2.342e-4	358
Erythrocytosis due to tissue hypoxemia	von hippel-lindau disease	1	1	VHL (2)	0.50000	1.00000	6.494e-5	2.342e-4	403
Cooleys anemia	erythrocytosis, familial, 6	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	erythrocytosis, familial, 6	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
erythrocytosis, familial, 6	Hemoglobin c disease	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
erythrocytosis, familial, 6	Hemoglobin c beta thalassemia	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
erythrocytosis, familial, 6	Hemoglobin d disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
exostoses, multiple, type 2	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	1	1	EXT2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	108
Eye manifestations	Partial epilepsy with variable foci	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
Eye pain	Rhabdomyoma	1	0	POMC (1)	0.50000	1.00000	6.494e-5	2.342e-4	101
Eye pain	Sacroiliitis	1	1	POMC (2)	0.50000	1.00000	6.494e-5	2.342e-4	101
Factor h deficiency	Genetic hemolytic uremic syndrome	1	1	CFH (2)	0.50000	1.00000	6.494e-5	2.342e-4	32
Factor xii deficiency	hereditary angioedema type 3	1	1	F12 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
FAM111A-related skeletal dysplasia	Osteocraniostenosis	1	1	FAM111A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Familial adenomatous polyposis	gastric adenocarcinoma and proximal polyposis of the stomach	1	1	APC (2)	0.50000	1.00000	6.494e-5	2.342e-4	37
Familial cylindromatosis	Multiple familial trichoepithelioma	1	1	CYLD (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Familial cylindromatosis	frontotemporal dementia and/or amyotrophic lateral sclerosis 8	1	1	CYLD (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Retinal arterial tortuosity	1	1	COL4A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	33
Corticosterone methyl oxidase type i	familial hyperreninemic hypoaldosteronism type 2	1	1	CYP11B2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone monooxygenase deficiency	familial hyperreninemic hypoaldosteronism type 2	1	1	CYP11B2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyloxidase deficiency	familial hyperreninemic hypoaldosteronism type 2	1	1	CYP11B2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	177
familial hyperreninemic hypoaldosteronism type 2	Familial hypoaldosteronism	1	1	CYP11B2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	177
familial hyperreninemic hypoaldosteronism type 2	Hyperreninemic hypoaldosteronism	1	1	CYP11B2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	177
familial hypertryptophanemia	Hypertryptophanemia	1	1	TDO2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Familial hypoaldosteronism	Hyperreninemic hypoaldosteronism	1	1	CYP11B2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	177
Familial hypoaldosteronism	Hypoaldosteronism	1	1	CYP11B2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	177
familial hypobetalipoproteinemia 1	hypercholesterolemia, autosomal dominant, type B	1	0	APOB (1)	0.50000	1.00000	6.494e-5	2.342e-4	201
familial hypocalciuric hypercalcemia 1	neonatal severe primary hyperparathyroidism	1	0	CASR (1)	0.50000	1.00000	6.494e-5	2.342e-4	210
Familial infantile convulsions with paroxysmal choreoathetosis	Paroxysmal dystonia	1	1	PRRT2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	85
Familial infantile convulsions with paroxysmal choreoathetosis	infantile convulsions and choreoathetosis	1	1	PRRT2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	85
familial juvenile hyperuricemic nephropathy type 2	renal tubular dysgenesis of genetic origin	1	0	REN (1)	0.50000	1.00000	6.494e-5	2.342e-4	70
familial ovarian cancer	fanconi anemia complementation group j	1	0	BRIP1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
fanconi anemia complementation group b	Vacterl-hydrocephalus syndrome	1	1	FANCB (2)	0.50000	1.00000	6.494e-5	2.342e-4	
fanconi anemia complementation group n	PALB2-related cancer predisposition	1	0	PALB2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
fanconi anemia complementation group o	RAD51C-related cancer predisposition	1	0	RAD51C (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Fatty acid and ketone body metabolism disorder	Fatty acid oxidation and ketone body metabolism disorder	1	1	SLC16A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
fatty acyl-CoA reductase 1 deficiency	Peroxisomal fatty acyl-coa reductase 1 disorder	1	1	FAR1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
fatty acyl-CoA reductase 1 deficiency	fatty acyl-CoA reductase 1 upregulation	1	0	FAR1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
fatty acyl-CoA reductase 1 upregulation	Peroxisomal fatty acyl-coa reductase 1 disorder	1	1	FAR1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Feingold syndrome type 1	Gallbladder agenesis	1	1	MYCN (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Feingold syndrome type 1	megalencephaly-polydactyly syndrome	1	0	MYCN (1)	0.50000	1.00000	6.494e-5	2.342e-4	
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	1	0	ATP1A2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
FLVCR1-related retinopathy with or without ataxia	Retinopathy-sensory neuropathy syndrome	1	1	FLVCR1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
focal segmental glomerulosclerosis 3, susceptibility to	inherited focal segmental glomerulosclerosis	1	0	CD2AP (1)	0.50000	1.00000	6.494e-5	2.342e-4	
focal segmental glomerulosclerosis 7	Papillorenal syndrome	1	1	PAX2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
focal segmental glomerulosclerosis 9	Ventriculomegaly with cystic kidney disease	1	1	CRB2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
heyn-sproul-jackson syndrome	Microcephalic dwarfism	1	1	DNMT3A (2)	0.50000	1.00000	6.494e-5	2.342e-4	338
heyn-sproul-jackson syndrome	Tatton-Brown-Rahman overgrowth syndrome	1	0	DNMT3A (1)	0.50000	1.00000	6.494e-5	2.342e-4	338
Hmg-coa lyase deficiency	Hydroxymethylglutaryl-coa lyase deficiency	1	1	HMGCL (3)	0.50000	1.00000	6.494e-5	2.342e-4	
holoprosencephaly 3	Preaxial polydactyly with upper back hypertrichosis	1	1	SHH (3)	0.50000	1.00000	6.494e-5	2.342e-4	230
holoprosencephaly 3	Skeletal system disorder	1	1	SHH (2)	0.50000	1.00000	6.494e-5	2.342e-4	230
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Microvascular angina	1	1	MTHFR (3)	0.50000	1.00000	6.494e-5	2.342e-4	60
Hyaluronoglucosaminidase deficiency	mucopolysaccharidosis type 9	1	1	HYAL1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
hyper-IgE recurrent infection syndrome 1, autosomal dominant	Hyper-ige syndrome	1	1	STAT3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	167
hyper-IgE recurrent infection syndrome 1, autosomal dominant	Lymphoproliferative disorder of natural killer cells	1	1	STAT3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	167
hyper-IgE recurrent infection syndrome 1, autosomal dominant	STAT3-related early-onset multisystem autoimmune disease	1	0	STAT3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	167
hyper-IgE recurrent infection syndrome 5, autosomal recessive	Interleukin 6 quantitative trait	1	1	IL6R (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Hyper-ige syndrome	Lymphoproliferative disorder of natural killer cells	1	0	STAT3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	167
Hyper-ige syndrome	STAT3-related early-onset multisystem autoimmune disease	1	1	STAT3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	167
hyper-IgM syndrome type 1	X-linked hyper-igm syndrome	1	1	CD40LG (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Hyperammonemic encephalopathy	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	1	1	CA5A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Hypergammaglobulinemia	hypoproteinemia, hypercatabolic	1	1	B2M (3)	0.50000	1.00000	6.494e-5	2.342e-4	128
Hyperinflammatory lymphoproliferative immunodeficiency	immunodeficiency 72 with autoinflammation	1	1	NCKAP1L (2)	0.50000	1.00000	6.494e-5	2.342e-4	
hyperinsulinemic hypoglycemia with polycystic kidney disease	PMM2-congenital disorder of glycosylation	1	0	PMM2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
hyperlysinemia	Saccharopinuria	1	1	AASS (3)	0.50000	1.00000	6.494e-5	2.342e-4	
hyperparathyroidism 2 with jaw tumors	Parathyroid carcinoma	1	1	CDC73 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
hyperparathyroidism 2 with jaw tumors	Parathyroid neoplasm	1	1	CDC73 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Hyperreninemic hypoaldosteronism	Hypoaldosteronism	1	1	CYP11B2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	177
hypertrichotic osteochondrodysplasia Cantu type	Intellectual disability and myopathy syndrome	1	1	ABCC9 (5)	0.50000	1.00000	6.494e-5	2.342e-4	234
Hypervalinemia	hypervalinemia and hyperleucine-isoleucinemia	1	1	BCAT2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Achondroplasia	hypochondroplasia	1	1	FGFR3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptodactyly, tall stature, and hearing loss syndrome	hypochondroplasia	1	1	FGFR3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	130
Catshl syndrome	hypochondroplasia	1	1	FGFR3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	130
Crouzon syndrome with acanthosis nigricans	hypochondroplasia	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
hypochondroplasia	Muenke syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
Hypochromic anemia	microcytic anemia with liver iron overload	1	1	SLC11A2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
hypomagnesemia, seizures, and intellectual disability 1	Tetany	1	1	CNNM2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	359
Hypophosphatasia	Micromelia	1	1	ALPL (3)	0.50000	1.00000	6.494e-5	2.342e-4	388
IKBKG-related immunodeficiency with or without ectodermal dysplasia	incontinentia pigmenti	1	0	IKBKG (1)	0.50000	1.00000	6.494e-5	2.342e-4	12
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection-lymphopenia syndrome	immunodeficiency 57	1	1	RIPK1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	264
immunodeficiency 11b with atopic dermatitis	severe combined immunodeficiency due to CARD11 deficiency	1	0	CARD11 (1)	0.50000	1.00000	6.494e-5	2.342e-4	335
immunodeficiency 14	immunodeficiency 14b, autosomal recessive	1	0	PIK3CD (1)	0.50000	1.00000	6.494e-5	2.342e-4	375
immunodeficiency 15a	severe combined immunodeficiency due to IKK2 deficiency	1	0	IKBKB (1)	0.50000	1.00000	6.494e-5	2.342e-4	
immunodeficiency 31b	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	1	0	STAT1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
immunodeficiency 37	Mucosa-associated lymphoma	1	1	BCL10 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
immunodeficiency 61	X-linked common variable immunodeficiency phenotype due to sh3kbp1 deficiency	1	1	SH3KBP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	1	0	RAC2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	neutrophil immunodeficiency syndrome	1	0	RAC2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	neutrophil immunodeficiency syndrome	1	0	RAC2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
immunodeficiency due to CD25 deficiency	Interleukin 2 receptor deficiency	1	1	IL2RA (3)	0.50000	1.00000	6.494e-5	2.342e-4	416
IMPG1-related dominant retinopathy	IMPG1-related recessive retinopathy	1	0	IMPG1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	310
infantile convulsions and choreoathetosis	Paroxysmal dystonia	1	1	PRRT2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	85
inflammatory bowel disease, immunodeficiency, and encephalopathy	Peritoneal fibrosis	1	1	TGFB1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Insulin resistant diabetes mellitus with acanthosis nigricans	Insulin-resistant diabetes mellitus with acanthosis nigricans	1	1	INSR (3)	0.50000	1.00000	6.494e-5	2.342e-4	274
Insulin resistant diabetes mellitus with acanthosis nigricans	Type a insulin resistance syndrome	1	1	INSR (2)	0.50000	1.00000	6.494e-5	2.342e-4	274
Insulin resistant diabetes mellitus with acanthosis nigricans	Leprechaunism syndrome	1	0	INSR (1)	0.50000	1.00000	6.494e-5	2.342e-4	274
Insulin resistant diabetes mellitus with acanthosis nigricans	insulin-resistance syndrome type A	1	1	INSR (2)	0.50000	1.00000	6.494e-5	2.342e-4	274
insulin-resistance syndrome type A	Insulin-resistant diabetes mellitus with acanthosis nigricans	1	1	INSR (3)	0.50000	1.00000	6.494e-5	2.342e-4	274
insulin-resistance syndrome type A	Type a insulin resistance syndrome	1	1	INSR (2)	0.50000	1.00000	6.494e-5	2.342e-4	274
insulin-resistance syndrome type A	Leprechaunism syndrome	1	1	INSR (2)	0.50000	1.00000	6.494e-5	2.342e-4	274
Insulin-resistant diabetes mellitus with acanthosis nigricans	Type a insulin resistance syndrome	1	1	INSR (3)	0.50000	1.00000	6.494e-5	2.342e-4	274
Insulin-resistant diabetes mellitus with acanthosis nigricans	Leprechaunism syndrome	1	1	INSR (3)	0.50000	1.00000	6.494e-5	2.342e-4	274
intellectual developmental disorder and retinitis pigmentosa; IDDRP	Intellectual developmental disorder with retinitis pigmentosa	1	1	SCAPER (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder cataracts myopathy	primrose syndrome	1	1	ZBTB20 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder dysmorphic brain	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	1	1	TRAPPC9 (4)	0.50000	1.00000	6.494e-5	2.342e-4	394
Intellectual developmental disorder dysmorphic cardiac	intellectual developmental disorder with cardiac defects and dysmorphic facies	1	1	TMEM94 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder dysmorphic cardiac short stature	Verheij syndrome	1	1	PUF60 (4)	0.50000	1.00000	6.494e-5	2.342e-4	370
Intellectual developmental disorder dysmorphic skeletal	Intellectual developmental disorder dysmorphic speech skeletal	1	1	CNOT2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder dysmorphic skeletal hair	Intellectual developmental disorder speech dysmorphic t-cell	1	1	BCL11B (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder dysmorphic skeletal hair	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	1	1	BCL11B (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder dysmorphic strabismus	intellectual disability-strabismus syndrome	1	1	ADAT3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder expressive speech dysmorphic	Schinzel-Giedion syndrome	1	1	SETBP1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	341
Intellectual developmental disorder growth behavioral	Intellectual developmental disorder macrocephaly hypotonia behavioral	1	1	PPP2R5D (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder language autism	intellectual disability-severe speech delay-mild dysmorphism syndrome	1	1	FOXP1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	267
Intellectual developmental disorder microcephaly ocular	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies	1	1	SOX11 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder microcephaly strabismus behaviora	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	1	1	POGZ (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Intellectual developmental disorder seizures dysmorphic skeletal	multiple congenital anomalies-hypotonia-seizures syndrome 3	1	1	PIGT (2)	0.50000	1.00000	6.494e-5	2.342e-4	
frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Multiple familial trichoepithelioma	1	1	CYLD (5)	0.50000	1.00000	6.494e-5	2.342e-4	
galactose epimerase deficiency	Udp-glucose 4-epimerase deficiency	1	1	GALE (3)	0.50000	1.00000	6.494e-5	2.342e-4	358
Galactose mutarotase deficiency	galactosemia 4	1	1	GALM (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Gallbladder agenesis	megalencephaly-polydactyly syndrome	1	1	MYCN (2)	0.50000	1.00000	6.494e-5	2.342e-4	
gapo syndrome	Growth retardation, alopecia, pseudoanodontia and optic atrophy	1	1	ANTXR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
GATA1-Related X-Linked Cytopenia	Thrombocytopenia with dyserythropoietic anemia	1	1	GATA1 (8)	0.50000	1.00000	6.494e-5	2.342e-4	132
Gata2 deficiency	GATA2 deficiency with susceptibility to MDS/AML	1	1	GATA2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	126
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	Testicular anomaly with congenital heart disease	1	1	GATA4 (6)	0.50000	1.00000	6.494e-5	2.342e-4	106
Gaucher disease due to saposin C deficiency	metachromatic leukodystrophy due to saposin B deficiency	1	0	PSAP (1)	0.50000	1.00000	6.494e-5	2.342e-4	114
Gaucher disease due to saposin C deficiency	Krabbe disease due to saposin A deficiency	1	0	PSAP (1)	0.50000	1.00000	6.494e-5	2.342e-4	114
Genetic hyperferritinemia without iron overload	hereditary hyperferritinemia with congenital cataracts	1	1	FTL (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Genetic hyperferritinemia without iron overload	neuroferritinopathy	1	1	FTL (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Genetic renal tubular disease	Hypokalemia-hypomagnesemia	1	1	SLC12A3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Genetic syndromic pierre robin syndrome	mandibulofacial dysostosis-microcephaly syndrome	1	1	EFTUD2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Giant cell tumor of tendon sheath	Renal dysplasia	1	1	HNF1B (2)	0.50000	1.00000	6.494e-5	2.342e-4	145
Giant cell tumor of tendon sheath	Multicystic dysplastic kidney	1	1	HNF1B (4)	0.50000	1.00000	6.494e-5	2.342e-4	145
Glass syndrome	Satb2 associated syndrome	1	1	SATB2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	197
Glass syndrome	SATB2 associated disorder	1	1	SATB2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	197
glaucoma 3, primary congenital, d	Microspherophakia	1	1	LTBP2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
glomerulopathy with fibronectin deposits 2	spondylometaphyseal dysplasia, 'corner fracture' type	1	0	FN1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Glucose transporter type 1 deficiency syndrome	GLUT1 deficiency syndrome	1	1	SLC2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	99
Glutaminase deficiency	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	1	1	GLS (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Glycerol kinase deficiency	inborn glycerol kinase deficiency	1	1	GK (2)	0.50000	1.00000	6.494e-5	2.342e-4	
glycogen storage disease II	Glycoprotein storage disease	1	1	GAA (2)	0.50000	1.00000	6.494e-5	2.342e-4	
glycogen storage disorder due to hepatic glycogen synthase deficiency	Hepatic glycogen synthase deficiency	1	1	GYS2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Glycoprotein vi deficiency	platelet-type bleeding disorder 11	1	1	GP6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	414
GM3 synthase deficiency	Salt and pepper developmental regression syndrome	1	1	ST3GAL5 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Granulomatous inflammatory arthritis-dermatitis-uveitis, familial	Yao syndrome	1	1	NOD2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	401
greenberg dysplasia	Reynolds syndrome	1	1	LBR (5)	0.50000	1.00000	6.494e-5	2.342e-4	281
greenberg dysplasia	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	1	1	LBR (2)	0.50000	1.00000	6.494e-5	2.342e-4	281
greenberg dysplasia	regressive spondylometaphyseal dysplasia	1	0	LBR (1)	0.50000	1.00000	6.494e-5	2.342e-4	281
greig cephalopolysyndactyly syndrome	Tibial hemimelia	1	1	GLI3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	192
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	growth hormone insensitivity with immune dysregulation 1, autosomal recessive	1	0	STAT5B (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Growth retardation, developmental delay, and facial dysmorphism	Growth retardation, developmental delay, coarse facies, and early death	1	1	FTO (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Growth retardation, mild developmental delay, chronic hepatitis syndrome	SH2B3-related immune system disorder	1	1	SH2B3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
GUCY2D-related dominant retinopathy	GUCY2D-related recessive retinopathy	1	0	GUCY2D (1)	0.50000	1.00000	6.494e-5	2.342e-4	69
hand-foot-genital syndrome	Uterine bilocularis	1	1	HOXA13 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Hartsfield-Bixler-Demyer syndrome	Osteoglophonic dwarfism	1	1	FGFR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	139
Hartsfield-Bixler-Demyer syndrome	Osteoglophonic dysplasia	1	1	FGFR1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	139
Hartsfield-Bixler-Demyer syndrome	Pfeiffer syndrome type 1	1	0	FGFR1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	139
hawkinsinuria	tyrosinemia type III	1	0	HPD (1)	0.50000	1.00000	6.494e-5	2.342e-4	
hearing loss, autosomal recessive 119	Sensorineural hearing loss-spastic quadriplegia–intellectual disability	1	1	AFG2B (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Hecht syndrome	Trismus-pseudocamptodactyly syndrome	1	1	MYH8 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
heme oxygenase 1 deficiency	Heme oxygenase deficiency	1	1	HMOX1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	194
Hemihyperplasia	silver-russell syndrome 3	1	1	IGF2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Clapo syndrome	Hemihyperplasia multiple lipomatosis syndrome	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Cloves syndrome	Hemihyperplasia multiple lipomatosis syndrome	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital intestinal duplication	Hemihyperplasia multiple lipomatosis syndrome	1	1	PIK3CA (2)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital macrodactylia	Hemihyperplasia multiple lipomatosis syndrome	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital malformation syndromes involving early overgrowth	Hemihyperplasia multiple lipomatosis syndrome	1	1	PIK3CA (2)	0.50000	1.00000	6.494e-5	2.342e-4	53
hemochromatosis type 5	neurodegeneration with brain iron accumulation 9	1	0	FTH1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	415
Hemoglobin c beta thalassemia	Hemoglobin c disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Hemoglobin d disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Hemoglobin e beta thalassemia	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Hemoglobin d disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Hemoglobin e beta thalassemia	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin c-thalassemia disease	1	0	HBB (1)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobin c-thalassemia disease	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Hemoglobin c-thalassemia disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Hemoglobin c-thalassemia disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c-thalassemia disease	Hemoglobin d disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin d disease	Hemoglobin e beta thalassemia	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin sc disease	1	0	HBB (1)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobin sc disease	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Hemoglobin sc disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Hemoglobin sc disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin d disease	Hemoglobin sc disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin sd disease	1	0	HBB (1)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobin sd disease	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Hemoglobin sd disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Hemoglobin sd disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin d disease	Hemoglobin sd disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin se disease	1	0	HBB (1)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobin se disease	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Hemoglobin se disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Hemoglobin se disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin d disease	Hemoglobin se disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobinopathy	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobinopathy	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c disease	Hemoglobinopathy	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin c beta thalassemia	Hemoglobinopathy	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemoglobin d disease	Hemoglobinopathy	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Hemophilia b carriers	thrombophilia, X-linked, due to factor 9 defect	1	1	F9 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Hepatoerythropoietic porphyria	UROD-related inherited porphyria	1	1	UROD (5)	0.50000	1.00000	6.494e-5	2.342e-4	
hereditary angioedema with C1Inh deficiency	Hereditary c1 esterase inhibitor deficiency	1	1	SERPING1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
hereditary hyperferritinemia with congenital cataracts	neuroferritinopathy	1	0	FTL (1)	0.50000	1.00000	6.494e-5	2.342e-4	
hereditary spastic paraplegia 8	ritscher-schinzel syndrome 1	1	0	WASHC5 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
hereditary von Willebrand disease	von Willebrand disease type 2B	1	0	VWF (1)	0.50000	1.00000	6.494e-5	2.342e-4	
hermansky-pudlak syndrome 10	Ocular albinism with sensorineural deafness	1	1	AP3D1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	432
Congenital factor x deficiency	Factor x deficiency	1	1	F10 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital factor xi deficiency	Factor xi deficiency	1	1	F11 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital factor xii deficiency	Factor xii deficiency	1	1	F12 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital factor xii deficiency	hereditary angioedema type 3	1	1	F12 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital folate absorption defect	Malabsorption syndrome	1	1	SLC46A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	428
Congenital generalized hypercontractile muscle stiffness syndrome	TPM3-related myopathy	1	1	TPM3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital glucokinase-related hyperinsulinism	hyperinsulinism due to glucokinase deficiency	1	1	GCK (2)	0.50000	1.00000	6.494e-5	2.342e-4	
congenital heart defects, multiple types, 7	lymphatic malformation 1	1	0	FLT4 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital high-molecular-weight kininogen deficiency	Hyperesthesia	1	1	KNG1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital hypoplasia of aortic arch	Periportal fibrosis	1	0	PKHD1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	74
Congenital hypoplasia of clavicle	Microstomia	1	0	LEMD2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital hypoplasia of clavicle	Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	1	1	LEMD2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital hypoplasia of pancreas	pancreatic agenesis 1	1	1	PDX1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital hypothalamic hamartoma syndrome	Curry-jones syndrome	1	1	SMO (6)	0.50000	1.00000	6.494e-5	2.342e-4	297
Congenital hypothalamic hamartoma syndrome	Winter shortland temple syndrome	1	1	SMO (3)	0.50000	1.00000	6.494e-5	2.342e-4	297
Congenital hypothalamic hamartoma syndrome	mosaic SMO syndrome	1	1	SMO (2)	0.50000	1.00000	6.494e-5	2.342e-4	297
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	Dentatorubral pallidoluysian atrophy	1	1	ATN1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital hypotrichosis with juvenile macular dystrophy	EEM syndrome	1	1	CDH3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Erythrokeratodermia with ataxia	1	1	ELOVL4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	ELOVL4-related maculopathy	1	1	ELOVL4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital idiopathic intestinal pseudoobstruction	Otopalatodigital spectrum disorder	1	1	FLNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	42
Congenital idiopathic intestinal pseudoobstruction	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.50000	1.00000	6.494e-5	2.342e-4	42
Congenital idiopathic intestinal pseudoobstruction	X-linked ehlers-danlos syndrome	1	1	FLNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	42
Congenital idiopathic intestinal pseudoobstruction	X-linked keloid scarring syndrome	1	1	FLNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	42
Congenital intestinal duplication	Congenital macrodactylia	1	1	PIK3CA (2)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital intestinal duplication	Congenital malformation syndromes involving early overgrowth	1	0	PIK3CA (1)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital intestinal duplication	Hemifacial myohyperplasia	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital macrodactylia	Congenital malformation syndromes involving early overgrowth	1	1	PIK3CA (2)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital macrodactylia	Hemifacial myohyperplasia	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital malabsorptive diarrhea	Congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency	1	1	NEUROG3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital malformation of cornea	Cornea plana	1	1	KERA (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital malformation syndromes involving early overgrowth	Hemifacial myohyperplasia	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Congenital merosin-deficient muscular dystrophy	LAMA2-related muscular dystrophy	1	1	LAMA2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital methemoglobinemia	Cytochrome-b5 reductase deficiency	1	1	CYB5R3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	429
Congenital methemoglobinemia	methemoglobinemia due to deficiency of methemoglobin reductase	1	1	CYB5R3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	429
Congenital mitral valve atresia	Intellectual developmental disorder language autism	1	1	FOXP1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	267
Congenital mitral valve atresia	intellectual disability-severe speech delay-mild dysmorphism syndrome	1	1	FOXP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	267
Congenital multicore myopathy with external ophthalmoplegia	malignant hyperthermia, susceptibility to, 1	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
Congenital multicore myopathy with external ophthalmoplegia	RYR1-related myopathy	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
congenital myasthenic syndrome 2A	congenital myasthenic syndrome 2C	1	0	CHRNB1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital myotonia	Myotonia congenita	1	1	CLCN1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital nephrotic syndrome	congenital nephrotic syndrome, Finnish type	1	1	NPHS1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	Congenital phimosis	1	0	ITGA3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital pectus carinatum	Coronary artery dissection	1	0	FBN1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	28
Congenital phimosis	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital plasminogen activator inhibitor deficiency type 1	congenital plasminogen activator inhibitor type 1 deficiency	1	1	SERPINE1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital prekallikrein deficiency	inherited prekallikrein deficiency	1	1	KLKB1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital prothrombin deficiency	thrombophilia due to thrombin defect	1	1	F2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	408
Congenital pulmonary valve atresia	Testicular anomaly with congenital heart disease	1	1	GATA4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	106
Congenital pulmonary valve atresia	GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	1	1	GATA4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	106
Congenital retinal aneurysm	Congenital retinal anomaly	1	0	RS1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital retinal aneurysm	X-linked retinoschisis	1	1	RS1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital retinal anomaly	X-linked retinoschisis	1	1	RS1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital sialidosis	Sialidosis	1	1	NEU1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Sideroblastic anemia with b-cell immunodeficiency	1	1	TRNT1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Retinitis pigmentosa and erythrocytic microcytosis	1	1	TRNT1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital small-platelet thrombocytopenia	thrombocytopenia 3	1	1	FYB1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital smooth muscle hamartoma	Developmental malformations-deafness-dystonia syndrome	1	1	ACTB (5)	0.50000	1.00000	6.494e-5	2.342e-4	115
Congenital smooth muscle hamartoma	Dystonia-deafness syndrome	1	1	ACTB (3)	0.50000	1.00000	6.494e-5	2.342e-4	115
Connective and soft tissue disorder	Vascular ehlers-danlos syndrome	1	1	COL3A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	350
Connective and soft tissue disorder	ehlers-danlos syndrome, vascular type	1	1	COL3A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	350
Contiguous abcd1-dxs1375e deletion syndrome	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	1	1	BCAP31 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Continuous spike and wave during sleep syndrome	Focal epilepsy with speech disorder and impaired intellectual development	1	1	GRIN2A (3)	0.50000	1.00000	6.494e-5	2.342e-4	389
Contractures, pterygia, and spondylocarpotarsal fusion syndrome	Contractures, pterygia, and variable skeletal fusions syndrome	1	1	MYH3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cooks syndrome	isolated Pierre-Robin syndrome	1	1	SOX9 (2)	0.50000	1.00000	6.494e-5	2.342e-4	164
Cooleys anemia	Dominant beta-thalassemia	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin c disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin c beta thalassemia	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin d disease	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Cooleys anemia	Hemoglobin e beta thalassemia	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
Coproporphyria	Hereditary coproporphyria	1	1	CPOX (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Coproporphyria	CPOX-related hereditary coproporphyria	1	1	CPOX (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Coronary medial sclerosis of infancy	hypopigmentation-punctate palmoplantar keratoderma syndrome	1	1	ENPP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	207
Corpus callosum agenesis with abnormal genitalia	X-linked lissencephaly	1	1	ARX (5)	0.50000	1.00000	6.494e-5	2.342e-4	255
Corpus callosum agenesis with abnormal genitalia	X-linked spasticity-intellectual disability-epilepsy syndrome	1	1	ARX (6)	0.50000	1.00000	6.494e-5	2.342e-4	255
Corpus callosum agenesis with intellectual disability, coloboma, micrognathia	Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia	1	1	IGBP1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
Cortical dysgenesis with pontocerebellar hypoplasia	TUBB3-related tubulinopathy	1	1	TUBB3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Corticosterone methyl oxidase type i	Corticosterone monooxygenase deficiency	1	1	CYP11B2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyl oxidase type i	Corticosterone methyloxidase deficiency	1	1	CYP11B2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyl oxidase type i	Familial hypoaldosteronism	1	1	CYP11B2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyl oxidase type i	Hyperreninemic hypoaldosteronism	1	1	CYP11B2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyl oxidase type i	Hypoaldosteronism	1	1	CYP11B2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyloxidase deficiency	Corticosterone monooxygenase deficiency	1	1	CYP11B2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyloxidase deficiency	Familial hypoaldosteronism	1	1	CYP11B2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyloxidase deficiency	Hyperreninemic hypoaldosteronism	1	1	CYP11B2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone methyloxidase deficiency	Hypoaldosteronism	1	1	CYP11B2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone monooxygenase deficiency	Familial hypoaldosteronism	1	1	CYP11B2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone monooxygenase deficiency	Hyperreninemic hypoaldosteronism	1	1	CYP11B2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	177
Corticosterone monooxygenase deficiency	Hypoaldosteronism	1	1	CYP11B2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	177
Costeff optic atrophy syndrome	optic atrophy 3	1	1	OPA3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cousin syndrome	Pelviscapular dysplasia	1	1	TBX15 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Coxa plana	Czech dysplasia	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coxa plana	Dysspondyloenchondromatosis	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coxa plana	kniest dysplasia	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coxa plana	spondyloperipheral dysplasia	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coxopodopatellar syndrome	Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	1	1	TBX4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	27
CPOX-related hereditary coproporphyria	Hereditary coproporphyria	1	1	CPOX (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Craniocerebral trauma	Hereditary antithrombin deficiency	1	1	SERPINC1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
cranioectodermal dysplasia 2	short-rib thoracic dysplasia 7 with or without polydactyly	1	0	WDR35 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Cranioosteoarthropathy	Digital clubbing, isolated congenital	1	1	HPGD (4)	0.50000	1.00000	6.494e-5	2.342e-4	
craniosynostosis 6	Turricephaly	1	1	ZIC1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Creatine transporter deficiency	X-linked creatine transporter deficiency	1	1	SLC6A8 (4)	0.50000	1.00000	6.494e-5	2.342e-4	380
Cria syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection-lymphopenia syndrome	1	1	RIPK1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	264
Cria syndrome	immunodeficiency 57	1	1	RIPK1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	264
Cronkhite-canada syndrome	Tibial hemimelia	1	0	GLI3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	192
Cronkhite-canada syndrome	greig cephalopolysyndactyly syndrome	1	1	GLI3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	192
Crouzon syndrome with acanthosis nigricans	Muenke syndrome	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Crouzon syndrome with acanthosis nigricans	Thanatophoric dysplasia	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Achondroplasia	Crouzon syndrome-acanthosis nigricans syndrome	1	1	FGFR3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptodactyly, tall stature, and hearing loss syndrome	Crouzon syndrome-acanthosis nigricans syndrome	1	1	FGFR3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	130
Catshl syndrome	Crouzon syndrome-acanthosis nigricans syndrome	1	1	FGFR3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	130
Crouzon syndrome with acanthosis nigricans	Crouzon syndrome-acanthosis nigricans syndrome	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Crouzon syndrome-acanthosis nigricans syndrome	Muenke syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
Cryptogenic multifocal ulcerous stenosing enteritis	Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	1	1	PLA2G4A (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Cryptophthalmia	Cryptotria	1	1	FREM2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
CTNNA1-related diffuse gastric and lobular breast cancer syndrome	Diffuse gastric and lobular breast cancer syndrome	1	1	CTNNA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	1	1	CTNNB1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	81
Culler-jones syndrome	Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	1	1	GLI2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	169
Curry-jones syndrome	Winter shortland temple syndrome	1	1	SMO (6)	0.50000	1.00000	6.494e-5	2.342e-4	297
Curry-jones syndrome	mosaic SMO syndrome	1	1	SMO (5)	0.50000	1.00000	6.494e-5	2.342e-4	297
Chuvash erythrocytosis	Erythrocytosis due to tissue hypoxemia	1	1	VHL (4)	0.50000	1.00000	6.494e-5	2.342e-4	403
Chuvash erythrocytosis	von hippel-lindau disease	1	1	VHL (5)	0.50000	1.00000	6.494e-5	2.342e-4	403
CIDEC-related familial partial lipodystrophy	Familial partial lipodystrophy	1	1	CIDEC (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Ciliary dyskinesia with retinitis pigmentosa	Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness	1	1	RPGR (6)	0.50000	1.00000	6.494e-5	2.342e-4	385
Ciliary dyskinesia with retinitis pigmentosa	RPGR-related retinopathy	1	1	RPGR (4)	0.50000	1.00000	6.494e-5	2.342e-4	385
Cinca syndrome	Infantile neurological cutaneous and articular syndrome	1	1	NLRP3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Cirrhosis dystonia polycythemia hypermanganesemia syndrome	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	1	1	SLC30A10 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Ck syndrome	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	1	1	NSDHL (7)	0.50000	1.00000	6.494e-5	2.342e-4	398
Clapo syndrome	Cloves syndrome	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Clapo syndrome	Congenital intestinal duplication	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Clapo syndrome	Congenital macrodactylia	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Clapo syndrome	Congenital malformation syndromes involving early overgrowth	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Clapo syndrome	Hemifacial myohyperplasia	1	1	PIK3CA (4)	0.50000	1.00000	6.494e-5	2.342e-4	53
classic homocystinuria	Homocystinuria	1	1	CBS (3)	0.50000	1.00000	6.494e-5	2.342e-4	
classic or attenuated familial adenomatous polyposis	Familial adenomatous polyposis	1	1	APC (2)	0.50000	1.00000	6.494e-5	2.342e-4	37
classic or attenuated familial adenomatous polyposis	gastric adenocarcinoma and proximal polyposis of the stomach	1	0	APC (1)	0.50000	1.00000	6.494e-5	2.342e-4	37
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome	Muggenthaler-chowdhury-chioza syndrome	1	1	HYAL2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cleft lip/palate with abnormal thumbs and microcephaly	Roberts syndrome	1	1	ESCO2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cleft lip/palate with abnormal thumbs and microcephaly	Roberts-sc phocomelia syndrome	1	1	ESCO2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cleft palate cardiac defects impaired intellectual development	Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	1	1	MEIS2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cleft palate psychomotor retardation distinctive facial features	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	1	1	KDM1A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cleft palate with ankyloglossia	Cleft palate x-linked	1	1	TBX22 (6)	0.50000	1.00000	6.494e-5	2.342e-4	226
Cleft palate with ankyloglossia	X-linked cleft palate and ankloglossia	1	1	TBX22 (6)	0.50000	1.00000	6.494e-5	2.342e-4	226
Cleft palate with ankyloglossia	cleft palate with or without ankyloglossia, x-linked	1	1	TBX22 (5)	0.50000	1.00000	6.494e-5	2.342e-4	226
cleft palate with or without ankyloglossia, x-linked	Cleft palate x-linked	1	1	TBX22 (3)	0.50000	1.00000	6.494e-5	2.342e-4	226
cleft palate with or without ankyloglossia, x-linked	X-linked cleft palate and ankloglossia	1	1	TBX22 (3)	0.50000	1.00000	6.494e-5	2.342e-4	226
Cleft palate x-linked	X-linked cleft palate and ankloglossia	1	1	TBX22 (3)	0.50000	1.00000	6.494e-5	2.342e-4	226
Cloves syndrome	Congenital intestinal duplication	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Cloves syndrome	Congenital macrodactylia	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Cloves syndrome	Congenital malformation syndromes involving early overgrowth	1	1	PIK3CA (3)	0.50000	1.00000	6.494e-5	2.342e-4	53
Cloves syndrome	Hemifacial myohyperplasia	1	1	PIK3CA (4)	0.50000	1.00000	6.494e-5	2.342e-4	53
Coasy protein-associated neurodegeneration	Coenzyme a synthase protein associated neurodegeneration	1	1	COASY (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Coats disease	norrie disease	1	1	NDP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cobalamin metabolism disorder	inborn disorder of cobalamin metabolism and transport	1	1	MMADHC (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cocoon syndrome	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	1	1	CHUK (3)	0.50000	1.00000	6.494e-5	2.342e-4	409
COG4-congenital disorder of glycosylation	Saul-wilson syndrome	1	1	COG4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
COG4-congenital disorder of glycosylation	microcephalic osteodysplastic dysplasia, Saul-Wilson type	1	0	COG4 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
COL1A1-related Ehlers-Danlos syndrome	Maternal hypertension	1	1	COL1A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	93
COL1A1-related Ehlers-Danlos syndrome	Rhizomelia	1	1	COL1A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	93
COL1A2-related Ehlers-Danlos syndrome	ehlers-danlos syndrome, cardiac valvular type	1	0	COL1A2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
COL1A2-related Ehlers-Danlos syndrome	COL1A2-related osteogenesis imperfecta	1	0	COL1A2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
COL1A2-related osteogenesis imperfecta	ehlers-danlos syndrome, cardiac valvular type	1	0	COL1A2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
COL2A1-related spondyloepiphyseal dysplasia	Collagenopathy	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
COL2A1-related spondyloepiphyseal dysplasia	Coxa plana	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
COL2A1-related spondyloepiphyseal dysplasia	Czech dysplasia	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
COL2A1-related spondyloepiphyseal dysplasia	Dysspondyloenchondromatosis	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
COL2A1-related spondyloepiphyseal dysplasia	kniest dysplasia	1	0	COL2A1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	15
COL4A1-related disorder	Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	1	1	COL4A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	33
COL4A1-related disorder	Colpocephaly	1	1	COL4A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	33
COL4A1-related disorder	Retinal arterial tortuosity	1	1	COL4A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	33
Cole disease	Coronary medial sclerosis of infancy	1	1	ENPP1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	207
Cole disease	hypopigmentation-punctate palmoplantar keratoderma syndrome	1	1	ENPP1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	207
Collagenopathy	Coxa plana	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
Collagenopathy	Czech dysplasia	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
Collagenopathy	Dysspondyloenchondromatosis	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
Collagenopathy	kniest dysplasia	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
Collagenopathy	spondyloperipheral dysplasia	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
Coloboma, cleft lip-palate and mental retardation syndrome	Uveal coloboma-cleft lip and palate-intellectual disability	1	1	YAP1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	419
Colorectal adenomatous polyposis	familial adenomatous polyposis 2	1	1	MUTYH (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Colpocephaly	Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	1	1	COL4A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	33
Colpocephaly	Retinal arterial tortuosity	1	1	COL4A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	33
combined immunodeficiency due to RELA haploinsufficiency	Mucocutaneous ulceration	1	1	RELA (3)	0.50000	1.00000	6.494e-5	2.342e-4	80
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency	immunodeficiency 84	1	1	IKZF3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Combined malonic and methylmalonic acidemia	Combined malonic and methylmalonic aciduria	1	1	ACSF3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
combined pituitary hormone deficiencies, genetic form	Congenital hypopituitarism	1	1	FOXA2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Combined psap deficiency	metachromatic leukodystrophy due to saposin B deficiency	1	1	PSAP (3)	0.50000	1.00000	6.494e-5	2.342e-4	114
Combined psap deficiency	Gaucher disease due to saposin C deficiency	1	1	PSAP (3)	0.50000	1.00000	6.494e-5	2.342e-4	114
Combined psap deficiency	Krabbe disease due to saposin A deficiency	1	1	PSAP (3)	0.50000	1.00000	6.494e-5	2.342e-4	114
Common atrium	Intellectual developmental disorder hypotonia behavioral	1	1	CDK8 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Compton-north congenital myopathy	Congenital lethal myopathy 	1	1	CNTN1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital alpha-2-antiplasmin deficiency	Congenital plasmin inhibitor deficiency	1	1	SERPINF2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
congenital amegakaryocytic thrombocytopenia 1	thrombocythemia 2	1	0	MPL (1)	0.50000	1.00000	6.494e-5	2.342e-4	98
Congenital analbuminemia	Dysalbuminemic hyperthyroxinemia	1	1	ALB (4)	0.50000	1.00000	6.494e-5	2.342e-4	314
Congenital analbuminemia	hyperthyroxinemia, familial dysalbuminemic	1	1	ALB (4)	0.50000	1.00000	6.494e-5	2.342e-4	314
Congenital aortic valve atresia	Congenital mitral valve atresia	1	0	FOXP1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	267
Congenital aortic valve atresia	Intellectual developmental disorder language autism	1	1	FOXP1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	267
Congenital aortic valve atresia	intellectual disability-severe speech delay-mild dysmorphism syndrome	1	1	FOXP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	267
Congenital aphakia	Congenital primary aphakia	1	1	FOXE3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital benign spinal muscular atrophy	Digital arthropathy-brachydactyly, familial	1	1	TRPV4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	218
Congenital benign spinal muscular atrophy	Parastremmatic dwarfism	1	1	TRPV4 (6)	0.50000	1.00000	6.494e-5	2.342e-4	218
Congenital benign spinal muscular atrophy	Scapuloperoneal spinal muscular atrophy	1	1	TRPV4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	218
Congenital benign spinal muscular atrophy	TRPV4-related bone disorder	1	1	TRPV4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	218
Congenital chromosomal disease	tumor predisposition syndrome 3	1	1	POT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Congenital limbs-face contractures-hypotonia-developmental delay syndrome	1	1	NALCN (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital cornea plana	Congenital malformation of cornea	1	1	KERA (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital cornea plana	Cornea plana	1	1	KERA (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital digestive system anomaly	Medullary thyroid cancer	1	1	RET (2)	0.50000	1.00000	6.494e-5	2.342e-4	161
Congenital digestive system anomaly	multiple endocrine neoplasia type 2B	1	1	RET (2)	0.50000	1.00000	6.494e-5	2.342e-4	161
Congenital digestive system anomaly	multiple endocrine neoplasia type 2A	1	1	RET (2)	0.50000	1.00000	6.494e-5	2.342e-4	161
congenital disorder of glycosylation, type Iw, autosomal dominant	STT3A-congenital disorder of glycosylation	1	0	STT3A (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige	Focal palmoplantar keratoderma with joint keratoses	1	1	DSG1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Congenital factor ii deficiency	Congenital prothrombin deficiency	1	1	F2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	408
Congenital factor ii deficiency	thrombophilia due to thrombin defect	1	1	F2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	408
Congenital factor v deficiency	East texas bleeding disorder	1	1	F5 (5)	0.50000	1.00000	6.494e-5	2.342e-4	84
Congenital factor v deficiency	thrombophilia due to activated protein c resistance	1	1	F5 (4)	0.50000	1.00000	6.494e-5	2.342e-4	84
Congenital factor vii deficiency	Factor vii deficiency	1	1	F7 (8)	0.50000	1.00000	6.494e-5	2.342e-4	
11p partial monosomy syndrome	Denys drash syndrome	1	1	WT1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	86
11p partial monosomy syndrome	Drash syndrome	1	0	WT1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	86
11p partial monosomy syndrome	denys-drash syndrome	1	1	WT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	86
11p partial monosomy syndrome	wilms tumor 1	1	1	WT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	86
12p12.1 microdeletion syndrome	lamb-shaffer syndrome	1	1	SOX5 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
12q15q21 microdeletion syndrome	Intellectual developmental disorder dysmorphic skeletal	1	1	CNOT2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
12q15q21 microdeletion syndrome	Intellectual developmental disorder dysmorphic speech skeletal	1	1	CNOT2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
16p13.2 microdeletion syndrome	hao-fountain syndrome	1	1	USP7 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
16q24.3 microdeletion syndrome	kbg syndrome	1	1	ANKRD11 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
17,20-lyase deficiency	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
17q11.2 microduplication syndrome	Cervical lymphadenopathy	1	1	NF1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	71
17q11.2 microduplication syndrome	Watson syndrome	1	1	NF1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	71
17q11.2 microduplication syndrome	neurofibromatosis type 1	1	1	NF1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	71
17q21.31 microdeletion syndrome	koolen-de vries syndrome	1	1	KANSL1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
17q23.1q23.2 microdeletion syndrome	Amelia	1	1	TBX4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	27
17q23.1q23.2 microdeletion syndrome	Chromosome 17q23.1-q23.2 duplication syndrome	1	1	TBX4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	27
17q23.1q23.2 microdeletion syndrome	Coxopodopatellar syndrome	1	1	TBX4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	27
17q23.1q23.2 microdeletion syndrome	Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	1	1	TBX4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	27
19p13.3 microduplication syndrome	Malan syndrome	1	1	NFIX (6)	0.50000	1.00000	6.494e-5	2.342e-4	287
19p13.3 microduplication syndrome	marshall-smith syndrome	1	1	NFIX (3)	0.50000	1.00000	6.494e-5	2.342e-4	287
19p13.3 microduplication syndrome	Malan overgrowth syndrome	1	1	NFIX (3)	0.50000	1.00000	6.494e-5	2.342e-4	287
1p21.3 microdeletion syndrome	Dihydropyrimidine dehydrogenase deficiency	1	1	DPYD (6)	0.50000	1.00000	6.494e-5	2.342e-4	365
1p31p32 microdeletion syndrome	Chromosome 1p32-p31 deletion syndrome	1	1	NFIA (3)	0.50000	1.00000	6.494e-5	2.342e-4	
1p31p32 microdeletion syndrome	brain malformations with or without urinary tract defects	1	1	NFIA (3)	0.50000	1.00000	6.494e-5	2.342e-4	
2,8-dihydroxyadenine urolithiasis	Adenine phosphoribosyltransferase deficiency	1	1	APRT (2)	0.50000	1.00000	6.494e-5	2.342e-4	
20p12.3 microdeletion syndrome	Right ventricle hypoplasia	1	1	BMP2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
21q22.11q22.12 microdeletion syndrome	Braddock-carey syndrome	1	1	KIF15 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
3-hydroxy-3-methylglutaric aciduria	Hmg-coa lyase deficiency	1	1	HMGCL (3)	0.50000	1.00000	6.494e-5	2.342e-4	
3-hydroxy-3-methylglutaric aciduria	Hydroxymethylglutaryl-coa lyase deficiency	1	1	HMGCL (2)	0.50000	1.00000	6.494e-5	2.342e-4	
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	Hmg-coa synthase deficiency	1	1	HMGCS2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
3-hydroxyacyl-coa dehydrogenase deficiency	obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	1	1	HADH (4)	0.50000	1.00000	6.494e-5	2.342e-4	
3-methylglutaconic aciduria type 5	Dilated cardiomyopathy with ataxia	1	1	DNAJC19 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
8q24.3 microdeletion syndrome	Intellectual developmental disorder dysmorphic cardiac short stature	1	1	PUF60 (3)	0.50000	1.00000	6.494e-5	2.342e-4	370
8q24.3 microdeletion syndrome	Verheij syndrome	1	1	PUF60 (3)	0.50000	1.00000	6.494e-5	2.342e-4	370
Aapoai amyloidosis	Apolipoprotein a-i amyloidosis	1	1	APOA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	293
AARS1-related leukoencephalopathy	Leukoencephalopathy	1	1	AARS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
AARS1-related leukoencephalopathy	Charcot-Marie-Tooth disease axonal type 2N	1	0	AARS1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
AARS1-related leukoencephalopathy	developmental and epileptic encephalopathy, 29	1	0	AARS1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
ABCA4-related retinopathy	Atrophic retina	1	1	ABCA4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	150
Abcd syndrome	Intestinal aganglionosis	1	1	EDNRB (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Abcd syndrome	Waardenburg syndrome type 4A	1	1	EDNRB (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Abeta amyloidosis	Amyloid angiopathy	1	1	APP (3)	0.50000	1.00000	6.494e-5	2.342e-4	151
Abeta amyloidosis	Partial epilepsy with variable foci	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
Abeta amyloidosis	Eye manifestations	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
Abeta amyloidosis	cerebral amyloid angiopathy, app-related	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
Ablepharon macrostomia syndrome	Barber-say syndrome	1	1	TWIST2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Ablepharon macrostomia syndrome	Congenital ectodermal dysplasia of face	1	0	TWIST2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Abri amyloidosis	Familial danish dementia	1	1	ITM2B (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Abruzzo-erickson syndrome	Cleft palate with ankyloglossia	1	1	TBX22 (6)	0.50000	1.00000	6.494e-5	2.342e-4	226
Abruzzo-erickson syndrome	Cleft palate x-linked	1	1	TBX22 (2)	0.50000	1.00000	6.494e-5	2.342e-4	226
Abruzzo-erickson syndrome	X-linked cleft palate and ankloglossia	1	1	TBX22 (3)	0.50000	1.00000	6.494e-5	2.342e-4	226
Abruzzo-erickson syndrome	cleft palate with or without ankyloglossia, x-linked	1	1	TBX22 (2)	0.50000	1.00000	6.494e-5	2.342e-4	226
ACAN-related short stature spectrum	Short stature spectrum	1	1	ACAN (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Acces syndrome	Chromosome 19q13.11 deletion syndrome	1	1	UBA2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
ACD-related short telomere syndrome	Short telomere syndrome	1	1	ACD (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Aceruloplasminemia	Hemosiderosis	1	1	CP (3)	0.50000	1.00000	6.494e-5	2.342e-4	188
Acheiropody	Patterson stevenson fontaine syndrome	1	1	LMBR1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
achondrogenesis type II	Collagenopathy	1	1	COL2A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	15
achondrogenesis type II	Coxa plana	1	1	COL2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	15
achondrogenesis type II	Czech dysplasia	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
achondrogenesis type II	Dysspondyloenchondromatosis	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
achondrogenesis type II	kniest dysplasia	1	0	COL2A1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	15
Achondroplasia	Camptodactyly, tall stature, and hearing loss syndrome	1	1	FGFR3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	130
Achondroplasia	Catshl syndrome	1	1	FGFR3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	130
Achondroplasia	Crouzon syndrome with acanthosis nigricans	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Achondroplasia	Muenke syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
Achondroplasia	Thanatophoric dysplasia	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Acid sphingomyelinase deficiency	Visceral acid sphingomyelinase deficiency	1	1	SMPD1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Acro-dermo-ungual-lacrimal-tooth syndrome	Ankyloblepharon-ectodermal defects-cleft lip/palate	1	1	TP63 (5)	0.50000	1.00000	6.494e-5	2.342e-4	30
Acro-dermo-ungual-lacrimal-tooth syndrome	Limb-mammary syndrome	1	1	TP63 (5)	0.50000	1.00000	6.494e-5	2.342e-4	30
Acro-dermo-ungual-lacrimal-tooth syndrome	Rudiger syndrome	1	1	TP63 (2)	0.50000	1.00000	6.494e-5	2.342e-4	30
Acro-dermo-ungual-lacrimal-tooth syndrome	Sweat gland neoplasm	1	1	TP63 (2)	0.50000	1.00000	6.494e-5	2.342e-4	30
Acro-dermo-ungual-lacrimal-tooth syndrome	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	1	1	TP63 (2)	0.50000	1.00000	6.494e-5	2.342e-4	30
Acromegaloid facial appearance syndrome	Intellectual disability and myopathy syndrome	1	1	ABCC9 (5)	0.50000	1.00000	6.494e-5	2.342e-4	234
Acromegaloid facial appearance syndrome	hypertrichotic osteochondrodysplasia Cantu type	1	1	ABCC9 (2)	0.50000	1.00000	6.494e-5	2.342e-4	234
Acromegaloid facial appearance syndrome	dilated cardiomyopathy 1O	1	1	ABCC9 (2)	0.50000	1.00000	6.494e-5	2.342e-4	234
ACTB-associated syndromic thrombocytopenia	Becker nevus syndrome	1	1	ACTB (5)	0.50000	1.00000	6.494e-5	2.342e-4	115
ACTB-associated syndromic thrombocytopenia	Congenital smooth muscle hamartoma	1	1	ACTB (4)	0.50000	1.00000	6.494e-5	2.342e-4	115
ACTB-associated syndromic thrombocytopenia	Developmental malformations-deafness-dystonia syndrome	1	1	ACTB (5)	0.50000	1.00000	6.494e-5	2.342e-4	115
ACTB-associated syndromic thrombocytopenia	Dystonia-deafness syndrome	1	1	ACTB (3)	0.50000	1.00000	6.494e-5	2.342e-4	115
ACTL6A-related BAFopathy	Bafopathy	1	1	ACTL6A (2)	0.50000	1.00000	6.494e-5	2.342e-4	
ACTN2-related cardiac and skeletal myopathy	Cardiac and skeletal myopathy	1	0	ACTN2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
acute intermittent porphyria	Intermittent porphyria	1	1	HMBS (2)	0.50000	1.00000	6.494e-5	2.342e-4	
acyl-CoA binding domain containing protein 5 deficiency	Acyl-coa binding domain containing protein deficiency	1	1	ACBD5 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
acyl-CoA dehydrogenase 9 deficiency	Acyl-coa dehydrogenase deficiency	1	1	ACAD9 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Acys amyloidosis	leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	1	1	CST3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Adenosine deaminase 2 deficiency	obsolete deficiency of adenosine deaminase 2	1	1	ADA2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Helsmoortel-van der aa syndrome	1	1	ADNP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Adrenocortical carcinoma	Choroid plexus carcinoma	1	1	TP53 (3)	0.50000	1.00000	6.494e-5	2.342e-4	88
Adrenocortical carcinoma	Choroid plexus papilloma	1	1	TP53 (4)	0.50000	1.00000	6.494e-5	2.342e-4	88
Adult polyglucosan body disease	glycogen storage disease due to glycogen branching enzyme deficiency	1	1	GBE1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Adult-onset dystonia-parkinsonism	Dystonia-parkinsonism-hypermanganesemia syndrome	1	1	SLC39A14 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Adult-onset proximal spinal muscular atrophy	amyotrophic lateral sclerosis type 8	1	1	VAPB (2)	0.50000	1.00000	6.494e-5	2.342e-4	
AFG3L2-related optic atrophy and/or spastic ataxia spectrum	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	1	1	AFG3L2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
agammaglobulinemia 7, autosomal recessive	Short syndrome	1	1	PIK3R1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	376
agammaglobulinemia 7, autosomal recessive	PIK3R1-related immunodeficiency and SHORT syndrome	1	0	PIK3R1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	376
Agat deficiency	Arginine-glycine amidinotransferase deficiency	1	1	GATM (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Agat deficiency	fanconi renotubular syndrome 1	1	1	GATM (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Agnathia-otocephaly	Dysgnathia complex	1	1	PRRX1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	381
Agnathia-otocephaly	Retrognathia	1	1	PRRX1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	381
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	Xia-gibbs syndrome	1	1	AHDC1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
AKT2-related familial partial lipodystrophy	hypoinsulinemic hypoglycemia and body hemihypertrophy	1	0	AKT2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Aland island eye disease	CACNA1F-related retinopathy	1	1	CACNA1F (2)	0.50000	1.00000	6.494e-5	2.342e-4	384
Aldosterone-producing adenoma	Breast cyst	1	1	CACNA1D (2)	0.50000	1.00000	6.494e-5	2.342e-4	116
Aldosterone-producing adenoma	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	1	1	CACNA1D (2)	0.50000	1.00000	6.494e-5	2.342e-4	116
Aldosterone-producing adenoma	sinoatrial node dysfunction and deafness	1	1	CACNA1D (2)	0.50000	1.00000	6.494e-5	2.342e-4	116
Alkuraya-kucinskas syndrome	Right aortic arch	1	1	BLTP1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Alpha thalassemia x-linked intellectual disability	Atr-x syndrome	1	1	ATRX (4)	0.50000	1.00000	6.494e-5	2.342e-4	117
Alpha thalassemia x-linked intellectual disability	X-linked alpha-thalassemia-intellectual disability syndrome	1	1	ATRX (2)	0.50000	1.00000	6.494e-5	2.342e-4	117
Alpha thalassemia x-linked intellectual disability	ATR-X-related syndrome	1	1	ATRX (2)	0.50000	1.00000	6.494e-5	2.342e-4	117
Alpha-1 antitrypsin deficiency	Beriberi	1	1	SERPINA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	236
Alpha-1 antitrypsin deficiency	Panniculitis	1	1	SERPINA1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	236
Alpha-1 antitrypsin deficiency	Thiamine deficiency	1	1	SERPINA1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	236
Alpha-2-plasmin inhibitor deficiency	Congenital plasmin inhibitor deficiency	1	1	SERPINF2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Alpha-2-plasmin inhibitor deficiency	Congenital alpha-2-antiplasmin deficiency	1	1	SERPINF2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Alpha-actinopathy	Zebra body myopathy	1	1	ACTA1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	162
Alpha-n-acetylgalactosaminidase deficiency	Schindler disease	1	1	NAGA (5)	0.50000	1.00000	6.494e-5	2.342e-4	
ALPL-related autosomal dominant hypophosphatasia	Hypophosphatasia	1	1	ALPL (3)	0.50000	1.00000	6.494e-5	2.342e-4	388
ALPL-related autosomal dominant hypophosphatasia	Micromelia	1	1	ALPL (2)	0.50000	1.00000	6.494e-5	2.342e-4	388
ALPL-related autosomal dominant hypophosphatasia	ALPL-related autosomal recessive hypophosphatasia	1	0	ALPL (1)	0.50000	1.00000	6.494e-5	2.342e-4	388
ALPL-related autosomal recessive hypophosphatasia	Hypophosphatasia	1	1	ALPL (3)	0.50000	1.00000	6.494e-5	2.342e-4	388
ALPL-related autosomal recessive hypophosphatasia	Micromelia	1	1	ALPL (2)	0.50000	1.00000	6.494e-5	2.342e-4	388
Alveolar capillary dysplasia	Congenital alveolar capillary dysplasia	1	1	FOXF1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Amaurosis hypertrichosis	jalili syndrome	1	1	CNNM4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Amelia	Chromosome 17q23.1-q23.2 duplication syndrome	1	1	TBX4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	27
Amelia	Coxopodopatellar syndrome	1	1	TBX4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	27
Amelia	Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	1	1	TBX4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	27
Amish nemaline myopathy	nemaline myopathy 5	1	1	TNNT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Amyloid angiopathy	Partial epilepsy with variable foci	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
Amyloid angiopathy	Eye manifestations	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
Amyloid angiopathy	cerebral amyloid angiopathy, app-related	1	1	APP (3)	0.50000	1.00000	6.494e-5	2.342e-4	151
amyloidosis, hereditary systemic 6	Beta2-microglobulinic amyloidosis	1	1	B2M (2)	0.50000	1.00000	6.494e-5	2.342e-4	128
amyloidosis, hereditary systemic 6	Hypergammaglobulinemia	1	1	B2M (3)	0.50000	1.00000	6.494e-5	2.342e-4	128
amyloidosis, hereditary systemic 6	hypoproteinemia, hypercatabolic	1	0	B2M (1)	0.50000	1.00000	6.494e-5	2.342e-4	128
amyotrophic lateral sclerosis type 11	Bilateral parasagittal parieto-occipital polymicrogyria	1	1	FIG4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	311
amyotrophic lateral sclerosis type 12	glaucoma, normal tension, susceptibility to	1	0	OPTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	
amyotrophic lateral sclerosis type 22	autosomal dominant macrothrombocytopenia	1	0	TUBA4A (1)	0.50000	1.00000	6.494e-5	2.342e-4	
amyotrophic lateral sclerosis, susceptibility to, 25	inherited neurodegenerative disorder	1	0	KIF5A (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Analbuminemia	Blood protein disorder	1	1	ALB (3)	0.50000	1.00000	6.494e-5	2.342e-4	314
Analbuminemia	Congenital analbuminemia	1	1	ALB (6)	0.50000	1.00000	6.494e-5	2.342e-4	314
Analbuminemia	Dysalbuminemic hyperthyroxinemia	1	1	ALB (3)	0.50000	1.00000	6.494e-5	2.342e-4	314
Analbuminemia	hyperthyroxinemia, familial dysalbuminemic	1	1	ALB (3)	0.50000	1.00000	6.494e-5	2.342e-4	314
Anaphylatoxin inactivator deficiency	Carboxypeptidase n deficiency	1	1	CPN1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Anaplastic oligoastrocytoma	Gemistocytic astrocytoma	1	0	IDH2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	200
anemia, nonspherocytic hemolytic, due to G6PD deficiency	G6PD deficiency	1	0	G6PD (1)	0.50000	1.00000	6.494e-5	2.342e-4	12
Anemia, x-linked	Dyserythropoietic anemia with thrombocytopenia	1	1	GATA1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	132
Anemia, x-linked	Thrombocytopenia with dyserythropoietic anemia	1	1	GATA1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	132
Anemia, x-linked	Dyserythropoietic anemia with abnormal platelets and neutropenia	1	1	GATA1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	132
Anemia, x-linked	GATA1-Related X-Linked Cytopenia	1	1	GATA1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	132
Angiofollicular ganglionic hyperplasia	Angiolymphoid hyperplasia	1	0	IL6 (1)	0.50000	1.00000	6.494e-5	2.342e-4	248
Angiofollicular ganglionic hyperplasia	Castleman disease	1	1	IL6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	248
Angiolymphoid hyperplasia	Castleman disease	1	1	IL6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	248
Ankyloblepharon-ectodermal defects-cleft lip/palate	Limb-mammary syndrome	1	1	TP63 (6)	0.50000	1.00000	6.494e-5	2.342e-4	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Rudiger syndrome	1	1	TP63 (5)	0.50000	1.00000	6.494e-5	2.342e-4	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Sweat gland neoplasm	1	1	TP63 (6)	0.50000	1.00000	6.494e-5	2.342e-4	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	1	1	TP63 (6)	0.50000	1.00000	6.494e-5	2.342e-4	30
Ankylosis	Beare-stevenson cutis gyrata syndrome	1	1	FGFR2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	38
Ankylosis	Cutis gyrata syndrome	1	1	FGFR2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	38
Ankylosis	bent bone dysplasia syndrome 1	1	1	FGFR2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	38
Anomalous pulmonary venous 	Deafness with cataract, intellectual disability, and polyneuropathy	1	1	PSMC3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Anterior compartment syndrome	Heme oxygenase deficiency	1	1	HMOX1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	194
Anterior compartment syndrome	heme oxygenase 1 deficiency	1	1	HMOX1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	194
Anterior maxillary protrusion-strabismus-intellectual disability syndrome	Intellectual disability, anterior maxillary protrusion, and strabismus	1	1	SOBP (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Anterior pituitary function deficiency with variable immunodeficiency	immunodeficiency, common variable, 10	1	1	NFKB2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
anterior segment dysgenesis 4	Ring dermoid of cornea	1	1	PITX2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	82
Antibody deficiency	immunodeficiency, common variable, 3	1	1	CD19 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	P450 oxidoreductase deficiency	1	1	POR (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Aplasia cutis-enamel dysplasia syndrome	Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome	1	1	FOSL2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Aplasia of lacrimal and salivary glands	Salivary gland agenesis	1	1	FGF10 (6)	0.50000	1.00000	6.494e-5	2.342e-4	321
Apolipoprotein a-ii amyloidosis	Apolipoprotein a-ii deficiency	1	1	APOA2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Apolipoprotein c-ii deficiency	Apolipoprotein c2 deficiency	1	1	APOC2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
apparent mineralocorticoid excess	Mineralocortocoid excess	1	1	HSD11B2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Arginine vasopressin deficiency	Hereditary arginine vasopressin deficiency	1	1	AVP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Arginine-glycine amidinotransferase deficiency	fanconi renotubular syndrome 1	1	1	GATM (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Arhinia-choanal atresia-microphthalmia syndrome	Bosma arhinia microphthalmia syndrome	1	1	SMCHD1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	324
Arhinia-choanal atresia-microphthalmia syndrome	arhinia, choanal atresia, and microphthalmia	1	1	SMCHD1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	324
arhinia, choanal atresia, and microphthalmia	Bosma arhinia microphthalmia syndrome	1	1	SMCHD1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	324
aromatic l-amino acid decarboxylase deficiency	Aromatic l-amino-acid decarboxylase deficiency	1	1	DDC (3)	0.50000	1.00000	6.494e-5	2.342e-4	
arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Carvajal syndrome	1	1	DSP (2)	0.50000	1.00000	6.494e-5	2.342e-4	206
arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Erythrokeratodermia-cardiomyopathy syndrome	1	1	DSP (2)	0.50000	1.00000	6.494e-5	2.342e-4	206
arterial calcification, generalized, of infancy, 1	Cole disease	1	1	ENPP1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	207
arterial calcification, generalized, of infancy, 1	Coronary medial sclerosis of infancy	1	1	ENPP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	207
arterial calcification, generalized, of infancy, 1	hypopigmentation-punctate palmoplantar keratoderma syndrome	1	0	ENPP1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	207
arthrogryposis multiplex congenita 3, myogenic type	autosomal recessive ataxia, Beauce type	1	0	SYNE1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Arthrogryposis with anterior horn cell disease	Congenital arthrogryposis with anterior horn cell disease	1	1	GLE1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Arts syndrome	Prpp synthetase superactivity	1	1	PRPS1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	253
Arts syndrome	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	1	1	PRPS1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	253
Arts syndrome	phosphoribosylpyrophosphate synthetase superactivity	1	1	PRPS1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	253
Arts syndrome	PRPS1 deficiency disorder	1	1	PRPS1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	253
ASAH1-related sphingolipidosis	Farber disease	1	1	ASAH1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Asphyxia	Beemer-langer syndrome	1	0	IFT80 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Asphyxia	asphyxiating thoracic dystrophy 2	1	1	IFT80 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
asphyxiating thoracic dystrophy 2	Beemer-langer syndrome	1	0	IFT80 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Asymmetric crying face association	Cayler cardiofacial syndrome	1	1	EYA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	134
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome	Distal anoctaminopathy	1	0	ANO5 (1)	0.50000	1.00000	6.494e-5	2.342e-4	191
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome	gnathodiaphyseal dysplasia	1	1	ANO5 (2)	0.50000	1.00000	6.494e-5	2.342e-4	191
Ataxia-hypogonadism-choroidal dystrophy syndrome	Boucher-neuhauser syndrome	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
Ataxia-hypogonadism-choroidal dystrophy syndrome	Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
Ataxia-hypogonadism-choroidal dystrophy syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (3)	0.50000	1.00000	6.494e-5	2.342e-4	121
Ataxia-hypogonadism-choroidal dystrophy syndrome	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
Ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6-related spastic paraplegia with or without ataxia	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
Ataxia-pancytopenia syndrome	SAMD9L-related spectrum and myeloid neoplasm risk	1	1	SAMD9L (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Ataxia, sensory, autosomal dominant	Sensory ataxia	1	1	RNF170 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect	Spastic ataxia of charlevoix-saguenay	1	1	SACS (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Ateleiotic dwarfism	Isolated somatotropin deficiency	1	0	GH1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Athabaskan brainstem dysgenesis	Bosley-salih-alorainy syndrome	1	1	HOXA1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
ATM-related cancer predisposition	Conjunctival telangiectasis	1	1	ATM (2)	0.50000	1.00000	6.494e-5	2.342e-4	364
ATP1A3-associated neurological disorder	Capos syndrome	1	1	ATP1A3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	196
ATP1A3-associated neurological disorder	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	1	1	ATP1A3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	196
ATP6AP2-related disorder	Parkinsonism with spasticity, x-linked	1	1	ATP6AP2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
ATP6AP2-related disorder	X-linked parkinsonism-spasticity syndrome	1	1	ATP6AP2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Atr-x syndrome	X-linked alpha-thalassemia-intellectual disability syndrome	1	1	ATRX (4)	0.50000	1.00000	6.494e-5	2.342e-4	117
Atr-x syndrome	ATR-X-related syndrome	1	1	ATRX (3)	0.50000	1.00000	6.494e-5	2.342e-4	117
ATR-X-related syndrome	X-linked alpha-thalassemia-intellectual disability syndrome	1	1	ATRX (2)	0.50000	1.00000	6.494e-5	2.342e-4	117
atransferrinemia	Congenital atransferrinemia	1	1	TF (4)	0.50000	1.00000	6.494e-5	2.342e-4	245
Atrial myxoma	Carney complex, type 1	1	1	PRKAR1A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Atrophia bulborum heritaria	Coats disease	1	1	NDP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Atrophia bulborum heritaria	norrie disease	1	1	NDP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Atrophoderma vermiculata	Burnett schwartz berberian syndrome	1	1	LRP1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	247
Atrophoderma vermiculata	Tricuspid atresia	1	1	LRP1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	247
Atypical absence epilepsy	Minor epilepsy	1	0	NPY (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Atypical absence epilepsy	Nasal obstruction	1	1	NPY (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Atypical absence seizure	Stress-induced neurodegenerative ataxia seizure syndrome	1	1	ADPRS (2)	0.50000	1.00000	6.494e-5	2.342e-4	
atypical hemolytic-uremic syndrome with DGKE deficiency	membranoproliferative glomerulonephritis	1	0	DGKE (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Atypical multiple mole melanoma syndrome	Trisomy	1	1	CDKN2A (3)	0.50000	1.00000	6.494e-5	2.342e-4	45
Atypical multiple mole melanoma syndrome	melanoma-pancreatic cancer syndrome	1	1	CDKN2A (3)	0.50000	1.00000	6.494e-5	2.342e-4	45
Atypical teratoid rhabdoid tumor	rhabdoid tumor predisposition syndrome 1	1	1	SMARCB1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	299
aural atresia, congenital	Congenital external auditory canal atresia	1	1	TSHZ1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Autism-epilepsy syndrome	Branched-chain keto acid dehydrogenase kinase deficiency	1	1	BCKDK (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoimmune enteropathy and endocrinopathy	immunodeficiency 31b	1	1	STAT1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoimmune enteropathy and endocrinopathy	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	1	1	STAT1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoimmune enteropathy and endocrinopathy	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	1	1	STAT1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	immunodeficiency 31b	1	0	STAT1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	1	0	STAT1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
autoimmune lymphoproliferative syndrome type 2B	Caspase 8 deficiency	1	1	CASP8 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoimmune pulmonary alveolar proteinosis	Heerfordt syndrome	1	1	HLA-DRB1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	254
Autoimmunity-autoinflammation-immunodeficiency syndrome	Autoinflammatory syndrome with immunodeficiency	1	1	SOCS1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	330
Autoimmunity-autoinflammation-immunodeficiency syndrome	Autoinflammatory syndrome, familial, with or without immunodeficiency	1	1	SOCS1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	330
Autoinflammation with arthritis and dyskeratosis	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	1	1	NLRP1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoinflammation with arthritis and vasculitis	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	1	1	TBK1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoinflammation, antibody deficiency, and immune dysregulation	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	1	1	PLCG2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoinflammation, panniculitis, and dermatosis syndrome	autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	1	1	OTULIN (5)	0.50000	1.00000	6.494e-5	2.342e-4	208
Autoinflammatory disease, multisystem, with immune dysregulation, x-linked	Early-onset immune dysregulation due to dock11 complete deficiency	1	1	DOCK11 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoinflammatory disease, multisystem, with immune dysregulation, x-linked	Early-onset immune dysregulation with autoimmunity due to dock11 partial deficiency	1	1	DOCK11 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia	Papa syndrome	1	1	PSTPIP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoinflammatory syndrome with immunodeficiency	Autoinflammatory syndrome, familial, with or without immunodeficiency	1	1	SOCS1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	330
Autoinflammatory syndrome, familial, x-linked, behcet-like	X-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency	1	1	ELF4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Autoinflammatory syndrome, familial, x-linked, behcet-like	autoinflammatory syndrome, familial, x-linked, behcet-like 2	1	1	ELF4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
autoinflammatory syndrome, familial, x-linked, behcet-like 2	X-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency	1	1	ELF4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal dominant cerebellar ataxia, deafness and narcolepsy	Cerebellar ataxia with deafness and narcolepsy	1	1	DNMT1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	332
autosomal dominant cerebellar ataxia, deafness and narcolepsy	Cerebellar ataxia, deafness, and narcolepsy	1	1	DNMT1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	332
autosomal dominant hypocalcemia 1	neonatal severe primary hyperparathyroidism	1	0	CASR (1)	0.50000	1.00000	6.494e-5	2.342e-4	210
autosomal dominant hypocalcemia 1	familial hypocalciuric hypercalcemia 1	1	0	CASR (1)	0.50000	1.00000	6.494e-5	2.342e-4	210
autosomal dominant nebulin-related myopathy	Nebulin-related myopathy	1	1	NEB (2)	0.50000	1.00000	6.494e-5	2.342e-4	333
autosomal dominant nebulin-related myopathy	Distal nebulin myopathy	1	1	NEB (2)	0.50000	1.00000	6.494e-5	2.342e-4	333
autosomal dominant nebulin-related myopathy	nemaline myopathy 2	1	0	NEB (1)	0.50000	1.00000	6.494e-5	2.342e-4	333
autosomal dominant osteopetrosis 2	hypopigmentation, organomegaly, and delayed myelination and development	1	0	CLCN7 (1)	0.50000	1.00000	6.494e-5	2.342e-4	265
autosomal dominant osteopetrosis 2	autosomal recessive osteopetrosis 4	1	0	CLCN7 (1)	0.50000	1.00000	6.494e-5	2.342e-4	265
autosomal dominant pseudohypoaldosteronism type 1	Pseudohypoaldosteronism	1	1	NR3C2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal dominant pseudohypoaldosteronism type 1	Early-onset hypertension with severe exacerbation in pregnancy	1	1	NR3C2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal dominant pseudohypoaldosteronism type 1	pseudohyperaldosteronism type 2	1	0	NR3C2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal recessive cutis laxa type 2A	Wrinkly skin syndrome	1	1	ATP6V0A2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Autosomal recessive hypomyelinating leukodystrophy	hypomyelinating leukodystrophy 13	1	1	HIKESHI (4)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal recessive osteopetrosis 1	dysosteosclerosis	1	0	TCIRG1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal recessive osteopetrosis 4	hypopigmentation, organomegaly, and delayed myelination and development	1	0	CLCN7 (1)	0.50000	1.00000	6.494e-5	2.342e-4	265
autosomal recessive osteopetrosis 6	osteopetrosis, autosomal dominant 3	1	0	PLEKHM1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Dursun syndrome	1	1	G6PC3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
autosomal recessive spinocerebellar ataxia 14	spinocerebellar ataxia type 5	1	0	SPTBN2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Avellino corneal dystrophy	Groenouw corneal dystrophy	1	1	TGFBI (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Avoidant restrictive food intake disorder	Dysbetalipoproteinemia	1	1	APOE (2)	0.50000	1.00000	6.494e-5	2.342e-4	125
Axonal hereditary motor and sensory neuropathy	multiple symmetric lipomatosis with partial lipodystrophy	1	1	MFN2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	168
Axonal hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease type 2A2	1	1	MFN2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	168
Ayazi syndrome	Choroideremia-deafness-obesity syndrome	1	1	POU3F4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	244
Ayazi syndrome	Chromosome xq21 deletion syndrome	1	0	POU3F4 (1)	0.50000	1.00000	6.494e-5	2.342e-4	244
Ayazi syndrome	Xq21 microdeletion syndrome	1	1	POU3F4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	244
B4GALT1-congenital disorder of glycosylation	Combined low ldl and fibrinogen	1	1	B4GALT1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Bailey-Bloch congenital myopathy	Native american myopathy	1	1	STAC3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
BAP1-related tumor predisposition syndrome	Mucoepidermoid carcinoma	1	1	BAP1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	368
Barakat syndrome	hypoparathyroidism-deafness-renal disease syndrome	1	1	GATA3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Barber-say syndrome	Congenital ectodermal dysplasia of face	1	1	TWIST2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
bardet-biedl syndrome 11	Sarcotubular myopathy	1	1	TRIM32 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Bart-pumphrey syndrome	Keratitis ichthyosis hearing loss syndrome	1	1	GJB2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	68
bartsocas-papas syndrome 2	Cocoon syndrome	1	1	CHUK (3)	0.50000	1.00000	6.494e-5	2.342e-4	409
bartsocas-papas syndrome 2	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	1	1	CHUK (2)	0.50000	1.00000	6.494e-5	2.342e-4	409
Bartter disease type 4A	Sensorineural deafness with renal dysfunction	1	1	BSND (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Beare-stevenson cutis gyrata syndrome	Cutis gyrata syndrome	1	1	FGFR2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	38
Beare-stevenson cutis gyrata syndrome	bent bone dysplasia syndrome 1	1	1	FGFR2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	38
Beck-fahrner syndrome	Intellectual developmental disorder dysmorphic facial hearing joint	1	1	TET3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Becker nevus syndrome	Congenital smooth muscle hamartoma	1	1	ACTB (4)	0.50000	1.00000	6.494e-5	2.342e-4	115
Becker nevus syndrome	Developmental malformations-deafness-dystonia syndrome	1	1	ACTB (5)	0.50000	1.00000	6.494e-5	2.342e-4	115
Becker nevus syndrome	Dystonia-deafness syndrome	1	1	ACTB (4)	0.50000	1.00000	6.494e-5	2.342e-4	115
Beckwith-Wiedemann syndrome due to CDKN1C mutation	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	1	1	CDKN1C (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Benign concentric annular macular dystrophy	IMPG1-related dominant retinopathy	1	1	IMPG1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	310
Benign concentric annular macular dystrophy	IMPG1-related recessive retinopathy	1	1	IMPG1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	310
Benign congenital myopathy	Dystrophinopathy	1	0	DMD (1)	0.50000	1.00000	6.494e-5	2.342e-4	212
Benign congenital myopathy	progressive muscular dystrophy	1	1	DMD (2)	0.50000	1.00000	6.494e-5	2.342e-4	212
Benign essential blepharospasm	Blepharospasm	1	1	DRD5 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Benign fasciculation-cramp syndrome	Cramp-fasciculation syndrome	1	1	TRPA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Benign samaritan congenital myopathy	Central core disease	1	1	RYR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	268
Benign samaritan congenital myopathy	Central core myopathy	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
Benign samaritan congenital myopathy	Congenital multicore myopathy with external ophthalmoplegia	1	1	RYR1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	268
Benign samaritan congenital myopathy	malignant hyperthermia, susceptibility to, 1	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
Benign samaritan congenital myopathy	RYR1-related myopathy	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
bent bone dysplasia syndrome 1	Cutis gyrata syndrome	1	1	FGFR2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	38
Benta disease	immunodeficiency 11b with atopic dermatitis	1	1	CARD11 (4)	0.50000	1.00000	6.494e-5	2.342e-4	335
Benta disease	severe combined immunodeficiency due to CARD11 deficiency	1	1	CARD11 (4)	0.50000	1.00000	6.494e-5	2.342e-4	335
Beriberi	Panniculitis	1	1	SERPINA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	236
Beriberi	Thiamine deficiency	1	1	SERPINA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	236
Beta-aminoisobutyric aciduria	Claudication	1	1	AGXT2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Beta-propeller protein-associated neurodegeneration	X-linked optic atrophy	1	1	WDR45 (2)	0.50000	1.00000	6.494e-5	2.342e-4	412
Beta-propeller protein-associated neurodegeneration	X-linked cerebral cerebellar coloboma syndrome	1	1	WDR45 (2)	0.50000	1.00000	6.494e-5	2.342e-4	412
beta-thalassemia HBB/LCRB	Cooleys anemia	1	1	HBB (2)	0.50000	1.00000	6.494e-5	2.342e-4	18
beta-thalassemia HBB/LCRB	Dominant beta-thalassemia	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
beta-thalassemia HBB/LCRB	Hemoglobin c disease	1	1	HBB (4)	0.50000	1.00000	6.494e-5	2.342e-4	18
beta-thalassemia HBB/LCRB	Hemoglobin c beta thalassemia	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
beta-thalassemia HBB/LCRB	Hemoglobin d disease	1	1	HBB (3)	0.50000	1.00000	6.494e-5	2.342e-4	18
Beta2-microglobulinic amyloidosis	Hypergammaglobulinemia	1	1	B2M (2)	0.50000	1.00000	6.494e-5	2.342e-4	128
Beta2-microglobulinic amyloidosis	hypoproteinemia, hypercatabolic	1	1	B2M (2)	0.50000	1.00000	6.494e-5	2.342e-4	128
Bifid nail	OFD1-related ciliopathy	1	1	OFD1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Bilateral congenital mydriasis	spinocerebellar ataxia type 29	1	1	ITPR1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Bilateral congenital vertical talus	Vertical talus	1	1	HOXD10 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Bilateral microtia with deafness and cleft palate syndrome	Microtia	1	1	HOXA2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Bilateral multicystic dysplastic kidney	Renal dysplasia	1	1	HNF1B (2)	0.50000	1.00000	6.494e-5	2.342e-4	145
Bilateral multicystic dysplastic kidney	Giant cell tumor of tendon sheath	1	1	HNF1B (2)	0.50000	1.00000	6.494e-5	2.342e-4	145
Bilateral multicystic dysplastic kidney	Multicystic dysplastic kidney	1	1	HNF1B (3)	0.50000	1.00000	6.494e-5	2.342e-4	145
Bilateral vestibulopathy	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia	1	1	RFC1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	243
bile acid CoA:amino acid N-acyltransferase deficiency	Bile acid conjugation defect	1	1	BAAT (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Biotin-responsive basal ganglia disease	Biotin-thiamine-responsive basal ganglia disease	1	1	SLC19A3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Biotin-responsive basal ganglia disease	Thiamine-responsive encephalopathy	1	1	SLC19A3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Biotin-thiamine-responsive basal ganglia disease	Thiamine-responsive encephalopathy	1	1	SLC19A3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Birk-landau-perez syndrome	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	1	1	SLC30A9 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Biventricular noncompaction cardiomyopathy	Myosin storage myopathy	1	1	MYH7 (2)	0.50000	1.00000	6.494e-5	2.342e-4	104
Biventricular noncompaction cardiomyopathy	MYH7-related skeletal myopathy	1	1	MYH7 (2)	0.50000	1.00000	6.494e-5	2.342e-4	104
Biventricular noncompaction cardiomyopathy	dilated cardiomyopathy 1S	1	1	MYH7 (2)	0.50000	1.00000	6.494e-5	2.342e-4	104
Bladder dysfunction	Urinary bladder dysfunction	1	1	CHRNA3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Blau syndrome	Granulomatous inflammatory arthritis-dermatitis-uveitis, familial	1	1	NOD2 (7)	0.50000	1.00000	6.494e-5	2.342e-4	401
Blau syndrome	Yao syndrome	1	1	NOD2 (7)	0.50000	1.00000	6.494e-5	2.342e-4	401
bleeding disorder, platelet-type, 21	Paris-trousseau thrombocytopenia	1	1	FLI1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
bleeding disorder, platelet-type, 21	Peripheral primitive neuroectodermal tumor	1	1	FLI1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Bleeding esophageal varices	Esophageal and gastric varices	1	1	SST (2)	0.50000	1.00000	6.494e-5	2.342e-4	340
Blomstrand lethal chondrodysplasia	Eiken skeletal dysplasia	1	1	PTH1R (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Blood protein disorder	Congenital analbuminemia	1	1	ALB (4)	0.50000	1.00000	6.494e-5	2.342e-4	314
Blood protein disorder	Dysalbuminemic hyperthyroxinemia	1	0	ALB (1)	0.50000	1.00000	6.494e-5	2.342e-4	314
Blood protein disorder	hyperthyroxinemia, familial dysalbuminemic	1	1	ALB (2)	0.50000	1.00000	6.494e-5	2.342e-4	314
Bockenheimer syndrome	Mucocutaneous venous malformations	1	1	TEK (2)	0.50000	1.00000	6.494e-5	2.342e-4	257
Bockenheimer syndrome	TEK-related primary glaucoma	1	1	TEK (2)	0.50000	1.00000	6.494e-5	2.342e-4	257
Body skin hyperlaxity	vitamin K-dependent clotting factors, combined deficiency of, type 1	1	1	GGCX (5)	0.50000	1.00000	6.494e-5	2.342e-4	417
Bohring-opitz-like syndrome	Perching syndrome	1	1	KLHL7 (5)	0.50000	1.00000	6.494e-5	2.342e-4	343
bone marrow failure syndrome 4	Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome	1	1	MYSM1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Boomerang dysplasia	FLNB-associated autosomal dominant filamin related bone disorder	1	1	FLNB (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Borjeson-forssman-lehmann syndrome	Congenital hypoplasia of penis	1	1	PHF6 (7)	0.50000	1.00000	6.494e-5	2.342e-4	418
Bothnia retinal dystrophy	RLBP1-related retinopathy	1	1	RLBP1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
Boucher-neuhauser syndrome	Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	1	1	PNPLA6 (3)	0.50000	1.00000	6.494e-5	2.342e-4	121
Boucher-neuhauser syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
Boucher-neuhauser syndrome	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	1	1	PNPLA6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	121
Boucher-neuhauser syndrome	PNPLA6-related spastic paraplegia with or without ataxia	1	1	PNPLA6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	121
Brachial plexus neuritis	Neuralgic amyotrophy	1	1	SEPTIN9 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Brachydactyly with hypertension	Hypertension and brachydactyly syndrome	1	1	PDE3A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Brachydactyly-short stature-retinits pigmentosa syndrome	Metaphyseal chondrodysplasia with retinitis pigmentosa	1	1	CWC27 (5)	0.50000	1.00000	6.494e-5	2.342e-4	316
Brachydactyly-short stature-retinits pigmentosa syndrome	Retinitis pigmentosa with or without skeletal anomalies	1	1	CWC27 (3)	0.50000	1.00000	6.494e-5	2.342e-4	316
Brachydactyly-short stature-retinits pigmentosa syndrome	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	1	1	CWC27 (3)	0.50000	1.00000	6.494e-5	2.342e-4	316
Brachydactyly-syndactyly syndrome	Brachymesophalangy	1	1	HOXD13 (5)	0.50000	1.00000	6.494e-5	2.342e-4	111
Brachydactyly-syndactyly syndrome	Zygodactyly	1	1	HOXD13 (5)	0.50000	1.00000	6.494e-5	2.342e-4	111
Brachymesophalangy	Zygodactyly	1	1	HOXD13 (2)	0.50000	1.00000	6.494e-5	2.342e-4	111
Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome	HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome	1	1	HMGB1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Brachyrachia	Congenital benign spinal muscular atrophy	1	1	TRPV4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	218
Brachyrachia	Digital arthropathy-brachydactyly, familial	1	1	TRPV4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	218
Brachyrachia	Parastremmatic dwarfism	1	1	TRPV4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	218
Brachyrachia	Scapuloperoneal spinal muscular atrophy	1	1	TRPV4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	218
Brachyrachia	TRPV4-related bone disorder	1	1	TRPV4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	218
Brachytelephalangic chondrodysplasia punctata	X-linked chondrodysplasia punctata 1	1	1	ARSL (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Brain abnormalities neurodegeneration dysosteosclerosis	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	1	1	CSF1R (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Brain abnormalities neurodegeneration dysosteosclerosis	brain abnormalities, neurodegeneration, and dysosteosclerosis	1	1	CSF1R (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Brain abnormalities neurodegeneration dysosteosclerosis	leukoencephalopathy, diffuse hereditary, with spheroids 1	1	1	CSF1R (5)	0.50000	1.00000	6.494e-5	2.342e-4	
brain abnormalities, neurodegeneration, and dysosteosclerosis	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	1	1	CSF1R (4)	0.50000	1.00000	6.494e-5	2.342e-4	
brain abnormalities, neurodegeneration, and dysosteosclerosis	leukoencephalopathy, diffuse hereditary, with spheroids 1	1	0	CSF1R (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome	Bresek syndrome	1	1	MBTPS2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	346
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome	ifap syndrome 1, with or without bresheck syndrome	1	1	MBTPS2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	346
brain malformations with or without urinary tract defects	Chromosome 1p32-p31 deletion syndrome	1	1	NFIA (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Brain tumor-polyposis syndrome	Familial adenomatous polyposis	1	1	APC (3)	0.50000	1.00000	6.494e-5	2.342e-4	37
Brain tumor-polyposis syndrome	gastric adenocarcinoma and proximal polyposis of the stomach	1	1	APC (2)	0.50000	1.00000	6.494e-5	2.342e-4	37
Brain tumor-polyposis syndrome	classic or attenuated familial adenomatous polyposis	1	1	APC (2)	0.50000	1.00000	6.494e-5	2.342e-4	37
Brain-lung-thyroid syndrome	NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	1	1	NKX2-1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Brainstem atrophy	mucolipidosis type IV	1	1	MCOLN1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Branchial arch abnormalities syndrome	Branchial cleft anomalies	1	1	KMT2D (3)	0.50000	1.00000	6.494e-5	2.342e-4	95
Branchial arch abnormalities syndrome	kabuki syndrome 1	1	1	KMT2D (4)	0.50000	1.00000	6.494e-5	2.342e-4	95
Branchial cleft anomalies	kabuki syndrome 1	1	1	KMT2D (2)	0.50000	1.00000	6.494e-5	2.342e-4	95
Branchioskeletogenital syndrome	teebi hypertelorism syndrome 2	1	1	CDH11 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
BRCA1-related cancer predisposition	fanconi anemia, complementation group s	1	0	BRCA1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
BRCA2-related cancer predisposition	fanconi anemia complementation group d1	1	0	BRCA2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Breast cyst	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	1	1	CACNA1D (3)	0.50000	1.00000	6.494e-5	2.342e-4	116
Breast cyst	sinoatrial node dysfunction and deafness	1	1	CACNA1D (2)	0.50000	1.00000	6.494e-5	2.342e-4	116
Breast/nipple aplasia or hypoplasia	Congenital absence of breast with absent nipple	1	1	PTPRF (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Bresek syndrome	ifap syndrome 1, with or without bresheck syndrome	1	1	MBTPS2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	346
Brooke-spiegler syndrome	Familial cylindromatosis	1	1	CYLD (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Brooke-spiegler syndrome	Multiple familial trichoepithelioma	1	1	CYLD (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Brooke-spiegler syndrome	frontotemporal dementia and/or amyotrophic lateral sclerosis 8	1	1	CYLD (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Brown oculocutaneous albinism	oculocutaneous albinism type 2	1	1	OCA2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Bruton type agammaglobulinemia	X-linked agammaglobulinemia	1	1	BTK (6)	0.50000	1.00000	6.494e-5	2.342e-4	406
Bruton type agammaglobulinemia	X-linked hypogammaglobulinemia	1	1	BTK (4)	0.50000	1.00000	6.494e-5	2.342e-4	406
Bruton type agammaglobulinemia	Bruton-type agammaglobulinemia	1	1	BTK (3)	0.50000	1.00000	6.494e-5	2.342e-4	406
Bruton-type agammaglobulinemia	X-linked agammaglobulinemia	1	1	BTK (4)	0.50000	1.00000	6.494e-5	2.342e-4	406
Bruton-type agammaglobulinemia	X-linked hypogammaglobulinemia	1	1	BTK (2)	0.50000	1.00000	6.494e-5	2.342e-4	406
bryant-li-bhoj neurodevelopmental syndrome 1	Giant cell tumor of bone	1	1	H3-3A (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Bulbo-spinal atrophy, x-linked	Partial androgen insensitivity syndrome	1	1	AR (5)	0.50000	1.00000	6.494e-5	2.342e-4	204
Bulbo-spinal atrophy, x-linked	Kennedy disease	1	1	AR (3)	0.50000	1.00000	6.494e-5	2.342e-4	204
Bullous diffuse cutaneous mastocytosis	Mast cell leukemia	1	0	KIT (1)	0.50000	1.00000	6.494e-5	2.342e-4	420
Bullous diffuse cutaneous mastocytosis	Telangiectasia macularis eruptiva perstans	1	1	KIT (2)	0.50000	1.00000	6.494e-5	2.342e-4	420
Bullous diffuse cutaneous mastocytosis	Testicular seminoma	1	0	KIT (1)	0.50000	1.00000	6.494e-5	2.342e-4	420
Bullous diffuse cutaneous mastocytosis	Urticaria pigmentosa	1	0	KIT (1)	0.50000	1.00000	6.494e-5	2.342e-4	420
Bullous pyoderma gangrenosum	Pyoderma gangrenosum	1	1	PTPN6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Burnett schwartz berberian syndrome	Tricuspid atresia	1	0	LRP1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	247
Buschke-ollendorff syndrome	Dermatofibrosis lenticularis disseminata	1	1	LEMD3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	143
Buschke-ollendorff syndrome	Osteopoikilosis	1	1	LEMD3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	143
Butyrylcholinesterase deficiency	Trismus	1	1	BCHE (5)	0.50000	1.00000	6.494e-5	2.342e-4	397
Café-au-lait macules	LZTR1-related schwannomatosis	1	1	LZTR1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Caffey disease	Maternal hypertension	1	1	COL1A1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	93
Caffey disease	Rhizomelia	1	1	COL1A1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	93
Caffey disease	COL1A1-related Ehlers-Danlos syndrome	1	1	COL1A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	93
Calvarial doughnut lesions with bone fragility	Doughnut lesion of calvaria and bone fragility syndrome	1	1	SGMS2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy	Neurodevelopmental disorder with dilated cardiomyopathy	1	1	CAMK2D (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Campomelic dysplasia	Camptomelic dysplasia	1	1	SOX9 (7)	0.50000	1.00000	6.494e-5	2.342e-4	164
Campomelic dysplasia	Cooks syndrome	1	1	SOX9 (6)	0.50000	1.00000	6.494e-5	2.342e-4	164
Campomelic dysplasia	isolated Pierre-Robin syndrome	1	1	SOX9 (6)	0.50000	1.00000	6.494e-5	2.342e-4	164
Achondroplasia	camptodactyly-tall stature-scoliosis-hearing loss syndrome	1	1	FGFR3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	130
camptodactyly-tall stature-scoliosis-hearing loss syndrome	Camptodactyly, tall stature, and hearing loss syndrome	1	1	FGFR3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	130
camptodactyly-tall stature-scoliosis-hearing loss syndrome	Catshl syndrome	1	1	FGFR3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	130
camptodactyly-tall stature-scoliosis-hearing loss syndrome	Crouzon syndrome with acanthosis nigricans	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
camptodactyly-tall stature-scoliosis-hearing loss syndrome	Muenke syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptodactyly, tall stature, and hearing loss syndrome	Catshl syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptodactyly, tall stature, and hearing loss syndrome	Crouzon syndrome with acanthosis nigricans	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptodactyly, tall stature, and hearing loss syndrome	Muenke syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptodactyly, tall stature, and hearing loss syndrome	Thanatophoric dysplasia	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Camptomelic dysplasia	Cooks syndrome	1	1	SOX9 (3)	0.50000	1.00000	6.494e-5	2.342e-4	164
Camptomelic dysplasia	isolated Pierre-Robin syndrome	1	1	SOX9 (2)	0.50000	1.00000	6.494e-5	2.342e-4	164
Camptosynpolydactyly	Gollop-wolfgang complex	1	1	BHLHA9 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	Dyschromatosis	1	1	SASH1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	378
CAPN5-related vitreoretinopathy	Neovascular inflammatory vitreoretinopathy	1	1	CAPN5 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Capos syndrome	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	1	1	ATP1A3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	196
Carbamazepine hypersensitivity	Thrombophlebitis	1	1	HLA-B (2)	0.50000	1.00000	6.494e-5	2.342e-4	179
carbamoyl phosphate synthetase I deficiency disease	Congenital hyperammonemia	1	1	CPS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	202
Carbonic anhydrase deficiency	Hyperammonemic encephalopathy	1	1	CA5A (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Carbonic anhydrase deficiency	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	1	1	CA5A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Carcinoid syndrome	Intestinal cancer	1	1	SDHD (2)	0.50000	1.00000	6.494e-5	2.342e-4	78
Carcinoma in situ	Urinary bladder neck obstruction	1	0	PTGS2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	215
Cardiac anomalies - developmental delay - facial dysmorphism syndrome	Developmental delay with facial dysmorphism syndrome	1	1	MED13L (4)	0.50000	1.00000	6.494e-5	2.342e-4	56
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	Chromosome 6q24-q25 deletion syndrome	1	1	TAB2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	congenital heart defects, multiple types, 2	1	1	TAB2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Cardiogenetic disease	Repolarization syndrome	1	1	CACNB2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
cardiomyopathy, dilated, 2l	dilated cardiomyopathy 1C	1	0	LDB3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Carnitine deficiency	Systemic primary carnitine deficiency	1	1	SLC22A5 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Carnosinase deficiency	Carnosinemia	1	0	CNDP1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Carvajal syndrome	Erythrokeratodermia-cardiomyopathy syndrome	1	1	DSP (2)	0.50000	1.00000	6.494e-5	2.342e-4	206
Casgid syndrome	Glutaminase deficiency	1	1	GLS (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Casgid syndrome	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	1	1	GLS (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cataplexy	Niemann-Pick disease, type C1	1	1	NPC1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	231
Cataract-alopecia-sclerodactyly syndrome	Palmoplantar keratoderma and congenital alopecia	1	1	LSS (3)	0.50000	1.00000	6.494e-5	2.342e-4	386
Cataract-corneal dystrophy syndrome	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.50000	1.00000	6.494e-5	2.342e-4	25
Cataract-neurodevelopmental syndrome	Peroxisomal fatty acyl-coa reductase 1 disorder	1	1	FAR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Cataract-neurodevelopmental syndrome	fatty acyl-CoA reductase 1 upregulation	1	1	FAR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cataract-neurodevelopmental syndrome	fatty acyl-CoA reductase 1 deficiency	1	1	FAR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy	Combined deficiency of sialidase and beta galactosidase	1	1	CTSA (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Catshl syndrome	Crouzon syndrome with acanthosis nigricans	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Catshl syndrome	Muenke syndrome	1	1	FGFR3 (6)	0.50000	1.00000	6.494e-5	2.342e-4	130
Catshl syndrome	Thanatophoric dysplasia	1	1	FGFR3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	130
Caudal duplication anomaly	Craniometadiaphyseal osteosclerosis with hip dysplasia	1	1	AXIN1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Caudate atrophy	Nasu-hakola disease	1	1	TYROBP (2)	0.50000	1.00000	6.494e-5	2.342e-4	348
Caveolinopathy	Creatine phosphokinase elevation	1	1	CAV3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	349
CDH1-related diffuse gastric and lobular breast cancer syndrome	Hereditary diffuse gastric and lobular breast cancer syndrome	1	1	CDH1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	165
Cednik syndrome	Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	1	1	SNAP29 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
cenani-lenz syndactyly syndrome	congenital myasthenic syndrome 17	1	0	LRP4 (1)	0.50000	1.00000	6.494e-5	2.342e-4	344
Central apnea	Neonatal encephalopathy	1	1	MECP2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	55
Central core disease	Central core myopathy	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
Central core disease	Congenital multicore myopathy with external ophthalmoplegia	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
Central core disease	malignant hyperthermia, susceptibility to, 1	1	1	RYR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	268
Central core disease	RYR1-related myopathy	1	1	RYR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	268
Central core myopathy	Congenital multicore myopathy with external ophthalmoplegia	1	1	RYR1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	268
Central core myopathy	malignant hyperthermia, susceptibility to, 1	1	1	RYR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	268
Central core myopathy	RYR1-related myopathy	1	1	RYR1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	268
Central hypothyroidism	Neurooculorenal syndrome	1	1	ROBO1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Central retinal vein occlusion	hereditary thrombophilia due to congenital protein C deficiency	1	1	PROC (2)	0.50000	1.00000	6.494e-5	2.342e-4	325
Cerebellar ataxia with deafness and narcolepsy	Cerebellar ataxia, deafness, and narcolepsy	1	1	DNMT1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	332
Cerebellar ataxia with hearing loss	lichtenstein-knorr syndrome	1	1	SLC9A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Cerebellar hypoplasia	1	1	VLDLR (2)	0.50000	1.00000	6.494e-5	2.342e-4	260
Cerebellar cortical atrophy	Griscelli syndrome type 1	1	1	MYO5A (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	Cimdag syndrome	1	1	VPS4A (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cerebelloparenchymal disorder	Lactic acidosis	1	1	PMPCA (2)	0.50000	1.00000	6.494e-5	2.342e-4	158
cerebral amyloid angiopathy, app-related	Partial epilepsy with variable foci	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
cerebral amyloid angiopathy, app-related	Eye manifestations	1	1	APP (2)	0.50000	1.00000	6.494e-5	2.342e-4	151
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	inherited thrombocytopenia	1	0	NOTCH3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	374
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	1	0	NOTCH3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	374
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	inherited thrombocytopenia	1	0	NOTCH3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	374
Cerebral embolism	Intracranial embolism	1	0	KL (1)	0.50000	1.00000	6.494e-5	2.342e-4	351
Cerebrotendinous xanthomatosis	Cholestanol storage disease	1	1	CYP27A1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Cervical lymphadenopathy	Watson syndrome	1	1	NF1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	71
Cervical lymphadenopathy	neurofibromatosis type 1	1	1	NF1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	71
Charcot-Marie-Tooth disease axonal type 2N	Leukoencephalopathy	1	1	AARS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Charcot-Marie-Tooth disease axonal type 2N	developmental and epileptic encephalopathy, 29	1	0	AARS1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Charcot-Marie-Tooth disease type 1A	Hereditary neuropathy with liability to pressure palsies	1	1	PMP22 (3)	0.50000	1.00000	6.494e-5	2.342e-4	382
Charcot-Marie-Tooth disease type 2A2	multiple symmetric lipomatosis with partial lipodystrophy	1	0	MFN2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	168
Charcot-Marie-Tooth disease type 2T	Congenital membranous nephropathy	1	1	MME (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Childhood myocerebrohepatopathy spectrum	Schilder disease	1	1	POLG (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	myopathy, proximal, and ophthalmoplegia	1	1	MYH2 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Childhood-onset benign chorea with striatal involvement	Dyskinesia, limb and orofacial, infantile-onset	1	1	PDE10A (6)	0.50000	1.00000	6.494e-5	2.342e-4	413
Childhood-onset common variable immunodeficiency due to arhgef1 deficiency	immunodeficiency 62	1	1	ARHGEF1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Childhood-onset dystonia	Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	1	1	MECR (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Cholestasis-pigmentary retinopathy-cleft palate syndrome	MED12-related intellectual disability syndrome	1	1	MED12 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Cholesterol ester storage disease	Wolman disease	1	1	LIPA (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Cholesterol ester storage disease	lysosomal acid lipase deficiency	1	1	LIPA (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Chondroblastoma	Hemiparkinsonism hemiatrophy syndrome	1	1	H3-3B (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chondrodysplasia-difference of sex development syndrome	Chondrodysplasia-pseudohypohermaphroditism syndrome	1	1	HHAT (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Chops syndrome	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	1	1	AFF4 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	121
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	1	1	PNPLA6 (3)	0.50000	1.00000	6.494e-5	2.342e-4	121
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	PNPLA6-related spastic paraplegia with or without ataxia	1	1	PNPLA6 (3)	0.50000	1.00000	6.494e-5	2.342e-4	121
Choroid diseases	IL10-related early-onset inflammatory bowel disease	1	1	IL10 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Choroid plexus carcinoma	Choroid plexus papilloma	1	1	TP53 (4)	0.50000	1.00000	6.494e-5	2.342e-4	88
Choroideremia-deafness-obesity syndrome	Chromosome xq21 deletion syndrome	1	1	POU3F4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	244
Choroideremia-deafness-obesity syndrome	Xq21 microdeletion syndrome	1	1	POU3F4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	244
Christianon syndrome	Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment	1	1	SLC9A6 (5)	0.50000	1.00000	6.494e-5	2.342e-4	282
Christianon syndrome	Christianson syndrome	1	1	SLC9A6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	282
Christianson syndrome	Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment	1	1	SLC9A6 (3)	0.50000	1.00000	6.494e-5	2.342e-4	282
CHRNG-associated hypo-akinesia disorder of prenatal onset	Hypo-akinesia disorder of prenatal onset	1	1	CHRNG (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chromosome 10q deletion syndrome	Developmental delay with ataxia, hypotonia, and facial dysmorphism	1	1	EBF3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chromosome 10q deletion syndrome	hypotonia, ataxia, and delayed development syndrome	1	1	EBF3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Chromosome 15q24 deletion syndrome	SIN3A-related intellectual disability syndrome	1	1	SIN3A (3)	0.50000	1.00000	6.494e-5	2.342e-4	362
Chromosome 17q23.1-q23.2 deletion syndrome	Glucose transporter type 1 deficiency syndrome	1	1	SLC2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	99
Chromosome 17q23.1-q23.2 deletion syndrome	Epilepsy with myoclonic absence	1	1	SLC2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	99
Chromosome 17q23.1-q23.2 deletion syndrome	GLUT1 deficiency syndrome	1	1	SLC2A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	99
Chromosome 17q23.1-q23.2 duplication syndrome	Coxopodopatellar syndrome	1	1	TBX4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	27
Chromosome 17q23.1-q23.2 duplication syndrome	Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	1	1	TBX4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	27
Chromosome 1q deletion syndrome	Chromosome 1q43-q44 deletion syndrome	1	1	ZBTB18 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chromosome 22q11.2 deletion syndrome	interstitial lung disease due to ABCA3 deficiency	1	1	ABCA3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chromosome 22q11.2 microduplication syndrome	Conotruncal anomaly face syndrome	1	0	TBX1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	290
Chromosome 6q24-q25 deletion syndrome	congenital heart defects, multiple types, 2	1	1	TAB2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chromosome 8p23.1 monosomy	Congenital pulmonary valve atresia	1	0	GATA4 (1)	0.50000	1.00000	6.494e-5	2.342e-4	106
Chromosome 8p23.1 monosomy	Testicular anomaly with congenital heart disease	1	1	GATA4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	106
Chromosome 8p23.1 monosomy	GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	1	1	GATA4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	106
Chromosome xq21 deletion syndrome	Xq21 microdeletion syndrome	1	1	POU3F4 (2)	0.50000	1.00000	6.494e-5	2.342e-4	244
Chromosome xq25 duplication syndrome	Xq25 microduplication syndrome	1	1	STAG2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Chromosome xq26.3 duplication syndrome	X-linked acrogigantism due to xq26 microduplication	1	1	GPR101 (3)	0.50000	1.00000	6.494e-5	2.342e-4	235
Chromosome xq27.3-q28 duplication syndrome	fragile x syndrome	1	1	FMR1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity	Duodenal atresia	1	1	GUCY2C (2)	0.50000	1.00000	6.494e-5	2.342e-4	275
Chronic pain	Primary erythromelalgia	1	1	SCN9A (2)	0.50000	1.00000	6.494e-5	2.342e-4	171
Chung-jansen syndrome	Developmental delay with intellectual disability and obesity	1	1	PHIP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Chung-jansen syndrome	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	1	1	PHIP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cutis marmorata	immunodeficiency 78 with autoimmunity and developmental delay	1	1	TPP2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
CYP7B1-related disorder of oxysterol accumulation	Oxysterol accumulation disorder	1	1	CYP7B1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Cystic kidney disease with ventriculomegaly	Ventriculomegaly with cystic kidney disease	1	1	CRB2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	
Cystic kidney disease with ventriculomegaly	focal segmental glomerulosclerosis 9	1	1	CRB2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Cytochrome-b5 reductase deficiency	methemoglobinemia due to deficiency of methemoglobin reductase	1	1	CYB5R3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	429
Czech dysplasia	Dysspondyloenchondromatosis	1	1	COL2A1 (5)	0.50000	1.00000	6.494e-5	2.342e-4	15
Czech dysplasia	kniest dysplasia	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
Czech dysplasia	spondyloperipheral dysplasia	1	1	COL2A1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	15
D-lactic aciduria	D-lactic aciduria with gout	1	1	LDHD (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Dacryocystitis	Sclerosis	1	1	IL1RN (2)	0.50000	1.00000	6.494e-5	2.342e-4	219
De barsy syndrome	P5CS deficiency	1	1	ALDH18A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
De la chapelle dysplasia	Diastrophic dysplasia	1	1	SLC26A2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	190
De la chapelle dysplasia	Diastrophic dysplasia, broad bone-platyspondylic variant	1	0	SLC26A2 (1)	0.50000	1.00000	6.494e-5	2.342e-4	190
De la chapelle dysplasia	Ear disease	1	1	SLC26A2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	190
De la chapelle dysplasia	SLC26A2-related skeletal dysplasia	1	1	SLC26A2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	190
Deaf blind hypopigmentation syndrome	Yemenite deaf-blind hypopigmentation syndrome	1	1	SOX10 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Deaf blind hypopigmentation syndrome	Waardenburg syndrome type 4C	1	1	SOX10 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Deafness and myopia	high myopia-sensorineural deafness syndrome	1	1	SLITRK6 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Deafness with congenital and adult-onset progressive leukodystrophy	Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome	1	1	KARS1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Deafness with congenital and adult-onset progressive leukodystrophy	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome	1	1	KARS1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Deafness with congenital heart defects and posterior embryotoxon	Hepatic ductular hypoplasia	1	1	JAG1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	373
Deafness with congenital inner ear agenesis, microtia, and microdontia	Deafness with labyrinthine aplasia, microtia, and microdontia	1	1	FGF3 (7)	0.50000	1.00000	6.494e-5	2.342e-4	278
Deafness with congenital inner ear agenesis, microtia, and microdontia	Otodental dysplasia	1	1	FGF3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	278
Deafness with congenital inner ear agenesis, microtia, and microdontia	Otodental syndrome	1	1	FGF3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	278
Deafness with labyrinthine aplasia, microtia, and microdontia	Otodental dysplasia	1	1	FGF3 (5)	0.50000	1.00000	6.494e-5	2.342e-4	278
Deafness with labyrinthine aplasia, microtia, and microdontia	Otodental syndrome	1	1	FGF3 (4)	0.50000	1.00000	6.494e-5	2.342e-4	278
Deafness-lymphedema-leukemia syndrome	Gata2 deficiency	1	1	GATA2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	126
Deafness-lymphedema-leukemia syndrome	GATA2 deficiency with susceptibility to MDS/AML	1	1	GATA2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	126
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	1	1	TBC1D24 (3)	0.50000	1.00000	6.494e-5	2.342e-4	105
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	1	0	PIEZO1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	431
Delta zero thalassemia	Delta-thalassemia	1	0	HBD (1)	0.50000	1.00000	6.494e-5	2.342e-4	
Delta zero thalassemia	Hemoglobin lepore beta thalassemia	1	1	HBD (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Delta-sarcoglycan-related limb-girdle muscular dystrophy r6	dilated cardiomyopathy 1L	1	1	SGCD (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Delta-thalassemia	Hemoglobin lepore beta thalassemia	1	1	HBD (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Demyelinating leukodystrophy	microcephaly 26, primary, autosomal dominant	1	1	LMNB1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Den hoed-de boer-voisin syndrome	Developmental delay with dysmorphic facies and dental anomalies	1	1	SATB1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Dent disease type 1	X-linked nephrolithiasis	1	1	CLCN5 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Denys drash syndrome	Drash syndrome	1	1	WT1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	86
Denys drash syndrome	denys-drash syndrome	1	1	WT1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	86
Denys drash syndrome	wilms tumor 1	1	1	WT1 (6)	0.50000	1.00000	6.494e-5	2.342e-4	86
denys-drash syndrome	Drash syndrome	1	1	WT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	86
denys-drash syndrome	wilms tumor 1	1	0	WT1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	86
Dermatofibrosis lenticularis disseminata	Osteopoikilosis	1	1	LEMD3 (2)	0.50000	1.00000	6.494e-5	2.342e-4	143
Dermatopathia pigmentosa reticularis	Epidermolysis bullosa simplex	1	1	KRT14 (6)	0.50000	1.00000	6.494e-5	2.342e-4	270
developmental and epileptic encephalopathy, 29	Leukoencephalopathy	1	1	AARS1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Developmental delay and seizures	DHDDS-CDG	1	1	DHDDS (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Developmental delay due to metabolic enzyme deficiency	methylmalonate semialdehyde dehydrogenase deficiency	1	1	ALDH6A1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Developmental delay with ataxia, hypotonia, and facial dysmorphism	hypotonia, ataxia, and delayed development syndrome	1	1	EBF3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Developmental delay with hypotonia and behavioral abnormalities	floating-harbor syndrome	1	1	SRCAP (5)	0.50000	1.00000	6.494e-5	2.342e-4	
Developmental delay with immunodeficiency syndrome	immunodeficiency, developmental delay, and hypohomocysteinemia	1	1	NFE2L2 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Developmental delay with intellectual disability and obesity	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	1	1	PHIP (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Developmental malformations-deafness-dystonia syndrome	Dystonia-deafness syndrome	1	1	ACTB (5)	0.50000	1.00000	6.494e-5	2.342e-4	115
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Sensorineural hearing loss thrombocytopenia syndrome	1	1	DIAPH1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	157
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	1	0	DIAPH1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	157
Diastrophic dysplasia	Diastrophic dysplasia, broad bone-platyspondylic variant	1	1	SLC26A2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	190
Diastrophic dysplasia	Ear disease	1	1	SLC26A2 (5)	0.50000	1.00000	6.494e-5	2.342e-4	190
Diastrophic dysplasia	SLC26A2-related skeletal dysplasia	1	1	SLC26A2 (6)	0.50000	1.00000	6.494e-5	2.342e-4	190
Diastrophic dysplasia, broad bone-platyspondylic variant	Ear disease	1	1	SLC26A2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	190
Diastrophic dysplasia, broad bone-platyspondylic variant	SLC26A2-related skeletal dysplasia	1	1	SLC26A2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	190
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	hyperinsulinemic hypoglycemia, familial, 2	1	1	KCNJ11 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency	Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency	1	1	ABCC8 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency	hyperinsulinemic hypoglycemia, familial, 1	1	1	ABCC8 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency	hyperinsulinemic hypoglycemia, familial, 1	1	1	ABCC8 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Dicarboxylic aminoaciduria	Dicarboxylicaminoaciduria	1	1	SLC1A1 (7)	0.50000	1.00000	6.494e-5	2.342e-4	
Dicer1 syndrome	Dicer1 tumor-predisposition syndrome	1	1	DICER1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	216
Dicer1 syndrome	Dicer1-related tumor predisposition	1	1	DICER1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	216
Dicer1 syndrome	Sertoli-leydig cell tumor of ovary	1	1	DICER1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	216
Dicer1 tumor-predisposition syndrome	Dicer1-related tumor predisposition	1	1	DICER1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	216
Dicer1 tumor-predisposition syndrome	Sertoli-leydig cell tumor of ovary	1	0	DICER1 (1)	0.50000	1.00000	6.494e-5	2.342e-4	216
Dicer1-related tumor predisposition	Sertoli-leydig cell tumor of ovary	1	1	DICER1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	216
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome	1	1	QARS1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Diffuse nonepidermolytic palmoplantar keratoderma	Keratosis of greither	1	1	KRT1 (3)	0.50000	1.00000	6.494e-5	2.342e-4	187
Digital arthropathy-brachydactyly, familial	Parastremmatic dwarfism	1	1	TRPV4 (5)	0.50000	1.00000	6.494e-5	2.342e-4	218
Digital arthropathy-brachydactyly, familial	Scapuloperoneal spinal muscular atrophy	1	1	TRPV4 (6)	0.50000	1.00000	6.494e-5	2.342e-4	218
Digital arthropathy-brachydactyly, familial	TRPV4-related bone disorder	1	1	TRPV4 (4)	0.50000	1.00000	6.494e-5	2.342e-4	218
Dilatation of left cardiac ventricle	dilated cardiomyopathy 1R	1	1	ACTC1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
dilated cardiomyopathy 1A	Emery dreifuss muscular dystrophy	1	1	LMNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	83
dilated cardiomyopathy 1A	Severe lipodystrophic laminopathy	1	1	LMNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	83
dilated cardiomyopathy 1A	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	1	1	LMNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	83
dilated cardiomyopathy 1A	Lipoatrophic diabetes mellitus	1	1	LMNA (2)	0.50000	1.00000	6.494e-5	2.342e-4	83
dilated cardiomyopathy 1A	Malouf syndrome	1	1	LMNA (2)	0.50000	1.00000	6.494e-5	2.342e-4	83
dilated cardiomyopathy 1E	SCN5A-related cardiac rhythm disorder	1	0	SCN5A (1)	0.50000	1.00000	6.494e-5	2.342e-4	140
dilated cardiomyopathy 1EE	MYH-6 related congenital heart defects	1	0	MYH6 (1)	0.50000	1.00000	6.494e-5	2.342e-4	328
dilated cardiomyopathy 1FF	dilated cardiomyopathy 2A	1	0	TNNI3 (1)	0.50000	1.00000	6.494e-5	2.342e-4	
dilated cardiomyopathy 1G	Progressive contractures limb-girdle weakness muscle dystrophy syndrome	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
dilated cardiomyopathy 1G	Early-onset myopathy with fatal cardiomyopathy	1	1	TTN (4)	0.50000	1.00000	6.494e-5	2.342e-4	221
dilated cardiomyopathy 1G	myopathy, myofibrillar, 9, with early respiratory failure	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
dilated cardiomyopathy 1G	tibial muscular dystrophy	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
dilated cardiomyopathy 1G	TTN-related myopathy, dominant-negative TTNsv	1	0	TTN (1)	0.50000	1.00000	6.494e-5	2.342e-4	221
dilated cardiomyopathy 1J	Sensorineural deafness with dilated cardiomyopathy	1	1	EYA4 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
dilated cardiomyopathy 1KK	MYPN-related myopathy	1	0	MYPN (1)	0.50000	1.00000	6.494e-5	2.342e-4	
dilated cardiomyopathy 1O	Intellectual disability and myopathy syndrome	1	1	ABCC9 (5)	0.50000	1.00000	6.494e-5	2.342e-4	234
dilated cardiomyopathy 1O	hypertrichotic osteochondrodysplasia Cantu type	1	0	ABCC9 (1)	0.50000	1.00000	6.494e-5	2.342e-4	234
dilated cardiomyopathy 1S	Myosin storage myopathy	1	1	MYH7 (3)	0.50000	1.00000	6.494e-5	2.342e-4	104
dilated cardiomyopathy 1S	MYH7-related skeletal myopathy	1	0	MYH7 (1)	0.50000	1.00000	6.494e-5	2.342e-4	104
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Emery dreifuss muscular dystrophy	1	1	LMNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	83
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Severe lipodystrophic laminopathy	1	1	LMNA (4)	0.50000	1.00000	6.494e-5	2.342e-4	83
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Lipoatrophic diabetes mellitus	1	1	LMNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	83
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Malouf syndrome	1	1	LMNA (3)	0.50000	1.00000	6.494e-5	2.342e-4	83
Direct inguinal hernia	loeys-dietz syndrome 2	1	1	TGFBR2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Distal anoctaminopathy	gnathodiaphyseal dysplasia	1	1	ANO5 (2)	0.50000	1.00000	6.494e-5	2.342e-4	191
Distal axonal motor neuropathy-myofibrillar myopathy syndrome	neuronopathy, distal hereditary motor, autosomal dominant	1	1	HSPB8 (3)	0.50000	1.00000	6.494e-5	2.342e-4	
Distal nebulin myopathy	Nebulin-related myopathy	1	1	NEB (3)	0.50000	1.00000	6.494e-5	2.342e-4	333
Distal nebulin myopathy	nemaline myopathy 2	1	1	NEB (2)	0.50000	1.00000	6.494e-5	2.342e-4	333
Distichiasis-lymphedema syndrome	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	1	1	FOXC2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Distichiasis-lymphedema syndrome	lymphedema-distichiasis syndrome	1	1	FOXC2 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Ditra syndrome	Von zumbuzschs disease	1	1	IL36RN (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Dkc1-related disorder	dyskeratosis congenita, x-linked	1	1	DKC1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	393
Dominant beta-thalassemia	Hemoglobin c disease	1	1	HBB (6)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobin c beta thalassemia	1	1	HBB (5)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobin d disease	1	1	HBB (5)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant beta-thalassemia	Hemoglobin e beta thalassemia	1	1	HBB (5)	0.50000	1.00000	6.494e-5	2.342e-4	18
Dominant dystrophic epidermolysis bullosa with absence of skin	Dominant dystrophic epidermolysis bullosa, albopapular type	1	1	COL7A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	252
Dominant dystrophic epidermolysis bullosa with absence of skin	recessive dystrophic epidermolysis bullosa	1	1	COL7A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	252
Dominant dystrophic epidermolysis bullosa, albopapular type	recessive dystrophic epidermolysis bullosa	1	1	COL7A1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	252
Dominant hereditary optic atrophy	OPA1-related optic atrophy with or without extraocular features	1	1	OPA1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	
Donohue syndrome	Insulin-resistant diabetes mellitus with acanthosis nigricans	1	1	INSR (6)	0.50000	1.00000	6.494e-5	2.342e-4	274
Donohue syndrome	Type a insulin resistance syndrome	1	1	INSR (6)	0.50000	1.00000	6.494e-5	2.342e-4	274
Donohue syndrome	Insulin resistant diabetes mellitus with acanthosis nigricans	1	1	INSR (7)	0.50000	1.00000	6.494e-5	2.342e-4	274
Donohue syndrome	Leprechaunism syndrome	1	1	INSR (7)	0.50000	1.00000	6.494e-5	2.342e-4	274
Donohue syndrome	insulin-resistance syndrome type A	1	1	INSR (6)	0.50000	1.00000	6.494e-5	2.342e-4	274
Dopamine transporter deficiency syndrome	SLC6A3-related dopamine transporter deficiency syndrome	1	1	SLC6A3 (3)	0.50000	1.00000	6.494e-5	2.342e-4	336
Dosage-sensitive sex reversal	X-linked adrenal hypoplasia congenita	1	1	NR0B1 (4)	0.50000	1.00000	6.494e-5	2.342e-4	
Drash syndrome	wilms tumor 1	1	1	WT1 (2)	0.50000	1.00000	6.494e-5	2.342e-4	86
Distal myopathy	Frontotemporal dementia with or without amyotrophic lateral sclerosis	2	2	VCP (6), SQSTM1 (7)	0.08000	0.16667	5.040e-5	2.342e-4	
Oculocutaneous albinism	Waardenburg syndrome	2	2	TYR (6), MITF (7)	0.08000	0.15385	5.106e-5	2.342e-4	
Occupational disease	Senile cataract	2	2	ERCC2 (2), XRCC1 (2)	0.08000	0.15385	5.106e-5	2.342e-4	
Megaloblastic anemia	Pancytopenia	2	2	TCN2 (3), DHFR (6)	0.08000	0.16667	5.040e-5	2.342e-4	
Hydronephrosis	Hyperemia	2	2	AGT (2), PTGS2 (2)	0.08000	0.16667	5.040e-5	2.342e-4	
Headache	Hodgkin disease	2	0	CSF3 (1), IFNA2 (1)	0.07692	0.20000	5.136e-5	2.342e-4	
inherited retinal dystrophy	Nanophthalmos	2	2	CRB1 (2), C1QTNF5 (2)	0.07692	0.16667	5.813e-5	2.342e-4	
Paralysis	Tremor	2	1	SCN4A (2), ATP7A (1)	0.07692	0.16667	5.813e-5	2.342e-4	
Arrhythmogenic right ventricular dysplasia	Myofibrillar myopathy	2	2	LDB3 (3), BAG3 (6)	0.07692	0.16667	5.813e-5	2.342e-4	3
Essential thrombocythemia	Nephrosclerosis	2	2	TGFB1 (2), FGF2 (2)	0.07692	0.15385	5.954e-5	2.342e-4	
Berylliosis	Gaucher disease	2	2	ACE (2), TNF (2)	0.07692	0.20000	5.136e-5	2.342e-4	
Gaucher disease	Vascular system injury	2	2	ACE (2), TNF (2)	0.07692	0.20000	5.136e-5	2.342e-4	
Cushing's disease	Gliosarcoma	2	2	TP53 (2), PPARG (2)	0.07692	0.18182	5.537e-5	2.342e-4	
Cystitis	Tonic-clonic epilepsy	2	2	NGF (2), POMC (2)	0.07692	0.16667	5.813e-5	2.342e-4	
Angle closure glaucoma	Carotid artery stenosis	2	1	APOE (2), MTHFR (1)	0.07692	0.15385	5.954e-5	2.342e-4	
Bicuspid aortic valve	Neuropathy, ataxia, and retinitis pigmentosa	2	1	ATP6 (2), ATP8 (1)	0.07692	0.15385	5.954e-5	2.342e-4	26
Blindness	Optic neuritis	2	1	EFEMP1 (2), AQP4 (1)	0.07692	0.15385	5.954e-5	2.342e-4	
Bronchial hyperreactivity	Congestive ophthalmopathy	2	2	ICAM1 (2), IL1RN (2)	0.07692	0.15385	5.954e-5	2.342e-4	
Byzanthine arch palate	Congenital epicanthus	2	0	TFAP2A (1), PTK2 (1)	0.07692	0.15385	5.954e-5	2.342e-4	
Carcinogenesis	Endometrial hyperplasia	2	2	KRAS (2), CDKN2A (2)	0.07407	0.20000	5.776e-5	2.342e-4	45
Clinodactyly	Esotropia	2	0	ANKRD11 (1), FASN (1)	0.07407	0.20000	5.776e-5	2.342e-4	
Gaucher disease	Retinitis pigmentosa-deafness syndrome	2	1	PSAP (7), CDH23 (1)	0.07407	0.18182	6.273e-5	2.342e-4	
Intervertebral disc disease	Uremia	2	2	TGFB1 (2), SPARC (2)	0.07407	0.20000	5.776e-5	2.342e-4	289
Hypertensive heart disease	Potassium deficiency	2	0	FGF5 (1), PRDM8 (1)	0.07407	0.20000	5.776e-5	2.342e-4	
Dwarfism	Seckel syndrome	2	2	TRAIP (5), PLK4 (4)	0.07407	0.20000	5.776e-5	2.342e-4	
Prostatic intraepithelial neoplasia	Substance-induced psychosis	2	0	ESR1 (1), GSTP1 (1)	0.07407	0.18182	6.273e-5	2.342e-4	
Bone neoplasms	Ruptured abdominal aortic aneurysm	2	2	MMP9 (2), TGFBR2 (2)	0.07143	0.25000	4.936e-5	2.342e-4	
Bone neoplasms	Ruptured aortic aneurysm	2	2	MMP9 (2), TGFBR2 (2)	0.07143	0.25000	4.936e-5	2.342e-4	
Ataxia	Episodic ataxia	2	2	CACNA1A (5), CACNB4 (5)	0.07143	0.25000	4.936e-5	2.342e-4	
Anencephaly	Dandy-walker syndrome	2	0	HYLS1 (1), PUS3 (1)	0.07143	0.22222	5.739e-5	2.342e-4	
Brain edema	Down syndrome	2	2	S100B (2), MMP9 (2)	0.07143	0.20000	6.453e-5	2.342e-4	
Bladder exstrophy	progressive myoclonus epilepsy	2	2	GOSR2 (2), NUS1 (2)	0.06897	0.22222	6.341e-5	2.342e-4	
Congenital impairment of spermatozoa motility	Spermatogenic failure, x-linked	2	2	SSX1 (4), USP26 (3)	0.06667	0.25000	5.943e-5	2.342e-4	11
Anhedonia	Dysthymic disorder	2	0	CRH (1), SLC6A4 (1)	0.06250	0.28571	5.728e-5	2.342e-4	
Congenital muscular dystrophy due to dystroglycanopathy	Hydrocephalus	2	1	CRPPA (2), POMGNT1 (1)	0.06250	0.28571	5.728e-5	2.342e-4	
Vascular remodeling	Vasculitis	2	2	GATA2 (2), SENP1 (2)	0.05882	0.33333	5.113e-5	2.342e-4	126
Exanthema	Spondylosis	2	2	HLA-B (2), IL1RN (2)	0.05714	0.33333	5.478e-5	2.342e-4	
Benign prostatic hyperplasia	Hemoglobin e disease	2	0	BCL11A (1), HBS1L (1)	0.05128	0.40000	4.998e-5	2.342e-4	
Appendicitis	Autoimmune hepatitis	3	2	F2 (1), IL10 (2), IFNG (2)	0.04545	0.10000	5.377e-5	2.342e-4	
Night blindness, congenital stationary	Retinal detachment	3	2	ABCA4 (1), RDH5 (2), RHO (3)	0.04348	0.12000	5.481e-5	2.342e-4	
Congenital cystic kidney disease	Gastrointestinal stromal tumor	2	2	TMEM231 (2), B9D1 (2)	0.04000	0.50000	5.450e-5	2.342e-4	
Antiphospholipid syndrome	Ocular sarcoidosis	3	2	HLA-DQA1 (2), HLA-DQB1 (2), FRMD4A (1)	0.03947	0.15000	5.525e-5	2.342e-4	1
Galactokinase deficiency	Ocular hypertension	2	2	NR3C1 (2), ITGB4 (2)	0.03846	0.50000	5.928e-5	2.342e-4	
Anodontia	Otosclerosis	2	2	LTBP3 (2), IRX5 (2)	0.03704	0.50000	6.426e-5	2.342e-4	
MHC class II deficiency	Severe combined immunodeficiency	2	2	RFX5 (2), RFXANK (2)	0.03704	0.50000	6.426e-5	2.342e-4	
Ischemic stroke	Moyamoya disease	4	2	MTHFR (2), MYRF (2), HLA-A (1), PHACTR1 (1)	0.03636	0.07843	5.168e-5	2.342e-4	
Essential tremor	Triple negative breast cancer	4	0	CCDC91 (1), ABHD8 (1), IL20RB (1), ANKLE1 (1)	0.03125	0.11765	5.936e-5	2.342e-4	
Congenital disorder of glycosylation	Glycosylphosphatidylinositol biosynthesis defect	3	3	PIGC (4), PIGW (3), PIGM (4)	0.02752	0.25000	5.438e-5	2.342e-4	
Deafness-infertility syndrome	Spermatogenic failure	2	2	STRC (5), CATSPER2 (5)	0.01739	1.00000	5.434e-5	2.342e-4	
Deafness, sensorineural, and male infertility	Spermatogenic failure	2	2	STRC (4), CATSPER2 (4)	0.01739	1.00000	5.434e-5	2.342e-4	
Male infertility acephalic spermatozoa	Spermatogenic failure	2	2	PMFBP1 (5), SUN5 (6)	0.01739	1.00000	5.434e-5	2.342e-4	
Male infertility teratozoospermia	Spermatogenic failure	2	2	CFAP251 (4), CFAP91 (3)	0.01739	1.00000	5.434e-5	2.342e-4	11
Hemorrhagic stroke	Nephrolithiasis	2	0	PDGFA (1), FOXL3 (1)	0.01653	1.00000	6.023e-5	2.342e-4	
Ataxia, spastic, autosomal dominant	Spastic paraplegia	2	1	TAPBPL (1), VAMP1 (2)	0.01653	1.00000	6.023e-5	2.342e-4	
3m syndrome	Desbuquois syndrome	3	3	CCDC8 (4), CUL7 (5), OBSL1 (3)	0.00528	1.00000	4.968e-5	2.342e-4	
Diffuse gastric adenocarcinoma	Urinary system neoplasms	2	0	PSCA (1), LY6K (1)	0.07407	0.16667	6.641e-5	2.393e-4	
Body weight	Tonic-clonic epilepsy	2	2	BDNF (2), POMC (2)	0.07407	0.16667	6.641e-5	2.393e-4	
familial thoracic aortic aneurysm and aortic dissection	Patent ductus arteriosus	2	2	FLNA (2), MYH11 (2)	0.07407	0.16667	6.641e-5	2.393e-4	
Oral cavity carcinoma	Pemphigus vulgaris	2	1	HLA-DRA (1), HLA-DQB1 (2)	0.05882	0.28571	6.659e-5	2.399e-4	1
Epithelial ovarian carcinoma	Generalized lipodystrophy	2	2	FOS (2), CAV1 (2)	0.05882	0.28571	6.659e-5	2.399e-4	79
Antisocial personality disorder	Conduct disorder	2	0	DRD4 (1), HTR1B (1)	0.03636	0.50000	6.683e-5	2.407e-4	
Bone fracture	Glomerulonephritis	5	1	TPCN2 (1), ESR1 (3), CCDC102B (1), DOK6 (1), ACAP2 (1)	0.03106	0.07353	6.810e-5	2.453e-4	
Basal ganglia disease	Tremor	2	2	CYP2D6 (2), DRD3 (3)	0.07407	0.15385	6.866e-5	2.473e-4	
Avascular necrosis of bone	Spondylometaphyseal dysplasia	2	2	COL2A1 (5), TRPV4 (5)	0.07407	0.14286	6.942e-5	2.499e-4	23
Osteonecrosis of medial femoral condyle	Spondylometaphyseal dysplasia	2	2	COL2A1 (5), TRPV4 (5)	0.07407	0.14286	6.942e-5	2.499e-4	23
Congenital epicanthus	Pancytopenia	2	0	RPL17 (1), RPL17-C18orf32 (1)	0.07407	0.14286	6.942e-5	2.499e-4	
Severe congenital neutropenia	Tubulointerstitial kidney disease	2	1	SEC61A1 (4), RUVBL1 (1)	0.06667	0.22222	6.973e-5	2.509e-4	
Aniridia	Keratitis	2	2	ELP4 (5), PAX6 (6)	0.06667	0.22222	6.973e-5	2.509e-4	
Penile hypospadia	Polymicrogyria	2	1	FIG4 (3), PEX1 (1)	0.06250	0.25000	7.044e-5	2.534e-4	
Dry eye syndrome	Polymyositis	3	2	THSD7A (1), IL1B (2), IL6 (2)	0.03896	0.13636	7.046e-5	2.534e-4	22
Cushing's disease	Potassium deficiency	2	0	POMC (1), NR3C1 (1)	0.07143	0.18182	7.055e-5	2.537e-4	
Brain disease	West syndrome	3	3	KCNQ2 (2), TSC2 (2), TSC1 (2)	0.04286	0.10000	7.278e-5	2.617e-4	
Charcot-marie-tooth disease	Giant axonal neuropathy	2	2	GAN (7), DCAF8 (6)	0.01504	1.00000	7.294e-5	2.622e-4	
Growth disorder	Hemolysis	2	0	HMOX1 (1), ATP7A (1)	0.05000	0.33333	7.486e-5	2.691e-4	
C1q deficiency	Stevens-johnson syndrome	2	2	C1QA (5), C1QC (5)	0.02500	0.66667	7.575e-5	2.722e-4	
Anti-neutrophil antibody associated vasculitis	Irritant dermatitis	2	2	HLA-DPB1 (3), HLA-DPA1 (3)	0.06452	0.22222	7.635e-5	2.743e-4	
Hydrops fetalis	Lymphatic malformation	2	2	CELSR1 (4), PIEZO1 (5)	0.07143	0.15385	7.843e-5	2.818e-4	
Down syndrome	Transposition of the great arteries	2	2	MTHFR (2), SLC19A1 (2)	0.06897	0.18182	7.882e-5	2.831e-4	56
Ataxia	Childhood absence epilepsy	2	2	GABRA1 (2), SLC2A1 (3)	0.06667	0.20000	7.920e-5	2.844e-4	227
Hyperemia	Secondary parkinson disease	2	2	NOS2 (2), CNR2 (2)	0.07143	0.14286	8.006e-5	2.875e-4	
Lymphoblastic leukemia	Post-operative stroke	2	0	TP63 (1), RYR2 (1)	0.03333	0.50000	8.040e-5	2.887e-4	
Partial adenosine deaminase deficiency	Pelvic organ prolapse	2	2	PKIG (2), ADA (2)	0.01429	1.00000	8.091e-5	2.904e-4	
Congenital ear anomaly	hearing loss, autosomal recessive	2	2	PTPRQ (2), PDZD7 (2)	0.05405	0.28571	8.186e-5	2.938e-4	
Aneurysm	Metaphyseal chondrodysplasia	2	2	FBN1 (2), MMP13 (5)	0.05882	0.25000	8.237e-5	2.956e-4	
Granulomatous disease	Williams syndrome	2	1	NCF1 (5), RNF157 (1)	0.06250	0.22222	8.326e-5	2.987e-4	12
Breast neoplasms	Polycystic ovary syndrome	20	20	CHEK2 (2), EMSY (2), ERBB3 (2), FST (2), YAP1 (2), BAX (2), BCL2 (2), CYP19A1 (2), LEP (2), NRG1 (2), VDR (2), FTO (2)	0.02759	0.08811	8.353e-5	2.997e-4	
Cervical intraepithelial neoplasia	Toxic epidermal necrolysis	2	1	HLA-B (2), MICA (1)	0.04762	0.33333	8.376e-5	3.005e-4	
Atrioventricular septal defect	Hypoplastic left heart syndrome	2	0	FOXP1 (1), GJA1 (1)	0.06897	0.16667	8.460e-5	3.033e-4	
Carcinogenesis	Cardiofaciocutaneous syndrome	2	2	BRAF (7), KRAS (8)	0.06897	0.16667	8.460e-5	3.033e-4	
Delirium	Keratitis	2	1	IL6 (1), CXCL8 (2)	0.06452	0.20000	8.709e-5	3.122e-4	
Dupuytren contracture	Stevens-johnson syndrome	5	2	ELMO1 (3), ZC3H12D (1), TAB2 (1), MAFB (1), NEDD4 (3)	0.03067	0.06410	8.723e-5	3.127e-4	
Byzanthine arch palate	Eye abnormalities	2	2	TFAP2A (2), SHH (2)	0.06897	0.15385	8.885e-5	3.183e-4	
Constitutional mismatch repair deficiency	Eye abnormalities	2	2	APC (2), TGFBR2 (2)	0.06897	0.15385	8.885e-5	3.183e-4	
Osteopetrosis	Platelet disorder	2	1	FERMT3 (2), CD36 (1)	0.06897	0.15385	8.885e-5	3.183e-4	
Bronchiectasis	Congestive ophthalmopathy	2	2	ICAM1 (2), TNF (2)	0.06897	0.15385	8.885e-5	3.183e-4	
Hyperopia	Retinal detachment	4	1	PTPRN2 (1), NOG (2), LAMA2 (1), RDH5 (1)	0.03279	0.08696	8.891e-5	3.184e-4	
Hemorrhoid	Thoracic aortic aneurysm and aortic dissection	4	4	ELN (4), SMAD3 (6), MYH11 (6), COL5A2 (2)	0.03150	0.09756	8.968e-5	3.212e-4	
Angle closure glaucoma	Pulmonary edema	2	2	CAT (2), NOS3 (2)	0.06897	0.14286	9.145e-5	3.272e-4	23
Avascular necrosis of bone	Pulmonary edema	2	2	CAT (2), NOS3 (2)	0.06897	0.14286	9.145e-5	3.272e-4	23
Hyperemia	Pulmonary edema	2	2	CAT (2), ADIPOQ (2)	0.06897	0.14286	9.145e-5	3.272e-4	
Osteonecrosis of medial femoral condyle	Pulmonary edema	2	2	CAT (2), NOS3 (2)	0.06897	0.14286	9.145e-5	3.272e-4	23
Cholangitis	Dentinogenesis imperfecta	2	2	ITGB6 (2), COL1A1 (2)	0.06897	0.14286	9.145e-5	3.272e-4	
Congenital epicanthus	Patent ductus arteriosus	2	0	ABCC9 (1), PTPN11 (1)	0.06897	0.14286	9.145e-5	3.272e-4	
Fatty liver, alcoholic	Trifunctional protein deficiency	2	1	HADHA (2), HADHB (1)	0.02273	0.66667	9.216e-5	3.297e-4	
Combined immunodeficiency disease	Pharyngeal disorder	3	3	IKZF1 (2), FOXN1 (3), CARMIL2 (2)	0.04110	0.09677	9.253e-5	3.309e-4	
Developmental delay	syndromic intellectual disability	3	3	TRIO (2), KAT6A (2), MED13L (2)	0.04167	0.08333	9.359e-5	3.347e-4	
Cachexia	Mouth disease	2	2	PTGS2 (2), GDF15 (2)	0.06667	0.16667	9.451e-5	3.377e-4	
Down syndrome	Tonic-clonic epilepsy	2	1	NTF3 (2), SNAP25 (1)	0.06667	0.16667	9.451e-5	3.377e-4	
Blepharoptosis	Postsynaptic congenital myasthenic syndrome	2	2	CHRNE (3), CHRND (3)	0.06667	0.16667	9.451e-5	3.377e-4	
Blepharoptosis	Cardiofaciocutaneous syndrome	2	2	PTPN11 (3), SOS1 (2)	0.06667	0.16667	9.451e-5	3.377e-4	49
Cerebral amyloid angiopathy	Conduct disorder	4	0	PTPRD (1), SLC7A2 (1), ADH1B (1), ADH1C (1)	0.03333	0.07692	9.506e-5	3.397e-4	
Middle aortic syndrome	Moyamoya disease	2	2	NF1 (2), RNF213 (6)	0.03077	0.50000	9.522e-5	3.401e-4	71
Epiphyseal dysplasia	Skeletal dysplasia	2	1	SLC26A2 (4), COL1A1 (1)	0.06250	0.20000	9.535e-5	3.405e-4	
Myelomonocytic leukemia	Systemic mastocytosis	2	0	ASXL1 (1), SRSF2 (1)	0.06250	0.20000	9.535e-5	3.405e-4	
Hemorrhagic disease	Macrothrombocytopenia	2	2	TPM4 (3), TUBB1 (3)	0.06452	0.18182	9.672e-5	3.453e-4	
Choroidal melanoma	Uveal melanoma	2	0	TDP1 (1), LSM3 (1)	0.04444	0.33333	9.805e-5	3.501e-4	
Breast disease	Triple negative breast cancer	2	0	CCDC91 (1), PTHLH (1)	0.05000	0.28571	9.870e-5	3.522e-4	
Dysthymic disorder	Panic disorder	2	0	CRH (1), MAOA (1)	0.05000	0.28571	9.870e-5	3.522e-4	
Dental enamel hypoplasia	Renal agenesis	2	2	DHX37 (2), ROBO1 (2)	0.06667	0.13333	1.055e-4	3.763e-4	
Hypercalciuria	Teratozoospermia	2	1	DCAF6 (1), ADCY10 (5)	0.05714	0.22222	1.058e-4	3.774e-4	
Fatty liver	Trifunctional protein deficiency	2	2	HADHA (2), HADHB (2)	0.02105	0.66667	1.078e-4	3.847e-4	
Trisomy	Vulvar lichen sclerosus	1	1	CDKN2A (2)	0.33333	1.00000	1.299e-4	3.898e-4	45
Tyrosine hydroxylase deficiency	Tyrosine hydroxylase–deficient dopa-responsive dystonia	1	1	TH (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Scapuloperoneal myopathy	Uruguay faciocardio-musculoskeletal syndrome	1	1	FHL1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Uruguay faciocardio-musculoskeletal syndrome	X-linked emery-dreifuss muscular dystrophy	1	1	FHL1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	433
Uruguay faciocardio-musculoskeletal syndrome	X-linked myopathy	1	1	FHL1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	433
Microvascular angina	Uterine disease	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Uterine disease	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Van buchem disease	Worth syndrome	1	1	LRP5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	123
polycystic liver disease 4 with or without kidney cysts	Van buchem disease	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	123
LRP5-related exudative vitreoretinopathy	Van buchem disease	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	123
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Vascular leukoencephalopathy	1	1	COL4A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	33
Clapo syndrome	Venous malformation	1	1	PIK3CA (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Cloves syndrome	Venous malformation	1	1	PIK3CA (3)	0.33333	1.00000	1.299e-4	3.898e-4	
vertebral anomalies and variable endocrine and t-cell dysfunction	Vertebral anomalies with endocrine and t-cell dysfunction	1	1	TBX2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	216
Amyloid polyneuropathy	Wild-type transthyretin-related amyloidosis	1	0	TTR (1)	0.33333	1.00000	1.299e-4	3.898e-4	185
Congenital aniridia	wilms tumor 1	1	1	WT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	86
Wiskott-aldrich syndrome	wiskott-aldrich syndrome 2	1	1	WIPF1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Wiskott-aldrich syndrome	X-linked severe congenital neutropenia	1	1	WAS (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Wiskott-aldrich syndrome	X-linked thrombocytopenia	1	1	WAS (7)	0.33333	1.00000	1.299e-4	3.898e-4	
X-linked agammaglobulinemia	X-linked agammaglobulinemia with growth hormone deficiency	1	1	BTK (3)	0.33333	1.00000	1.299e-4	3.898e-4	406
X-linked agammaglobulinemia with growth hormone deficiency	X-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency	1	1	ELF4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
X-linked chondrodysplasia punctata	X-linked chondrodysplasia punctata 1	1	1	ARSL (5)	0.33333	1.00000	1.299e-4	3.898e-4	
X-linked chondrodysplasia punctata	X-linked dominant chondrodysplasia punctata	1	1	EBP (2)	0.33333	1.00000	1.299e-4	3.898e-4	
X-linked emery-dreifuss muscular dystrophy	X-linked scapuloperoneal muscular dystrophy	1	1	FHL1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	433
X-linked agammaglobulinemia with growth hormone deficiency	X-linked hypogammaglobulinemia	1	1	BTK (2)	0.33333	1.00000	1.299e-4	3.898e-4	406
X-linked lymphoproliferative disease due to SH2D1A deficiency	X-linked lymphoproliferative syndrome	1	1	SH2D1A (4)	0.33333	1.00000	1.299e-4	3.898e-4	405
X-linked lymphoproliferative disease due to XIAP deficiency	X-linked lymphoproliferative syndrome	1	1	XIAP (4)	0.33333	1.00000	1.299e-4	3.898e-4	405
X-linked myopathy	X-linked scapuloperoneal muscular dystrophy	1	1	FHL1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	433
X-linked non progressive cerebellar ataxia	X-linked progressive cerebellar ataxia	1	1	ATP2B3 (5)	0.33333	1.00000	1.299e-4	3.898e-4	422
Scapuloperoneal myopathy	X-linked scapuloperoneal muscular dystrophy	1	1	FHL1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
xeroderma pigmentosum group F	Xfe progeroid syndrome	1	1	ERCC4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Niemann-Pick disease, type C1	Ophthalmoplegia	1	1	NPC1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	231
NKX2.5-related congenital, conduction and myopathic heart disease	Splenic hypoplasia	1	1	NKX2-5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	166
non-severe combined immunodeficiency due to polymerase delta deficiency	POLD1-related polyposis and colorectal cancer syndrome	1	0	POLD1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	356
Normal pressure hydrocephalus	spermatogenic failure 19	1	1	CFAP43 (4)	0.33333	1.00000	1.299e-4	3.898e-4	158
normophosphatemic familial tumoral calcinosis	Spectrum and myeloid neoplasm risk	1	1	SAMD9 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
obsolete Birt-Hogg-Dube syndrome	Potocki-lupski syndrome	1	1	FLCN (4)	0.33333	1.00000	1.299e-4	3.898e-4	285
Amyloid polyneuropathy	obsolete hereditary ATTR amyloidosis	1	1	TTR (2)	0.33333	1.00000	1.299e-4	3.898e-4	185
obsolete lethal restrictive dermopathy	Restrictive dermopathy	1	1	ZMPSTE24 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Ocular albinism with sensorineural deafness	X-linked ocular abinism	1	0	AP3D1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	432
Ocular anomalies with axonal neuropathy and developmental delay	Parenti-mignot neurodevelopmental syndrome	1	1	CHD5 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
OFD1-related ciliopathy	Otopalatodigital syndrome	1	1	OFD1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Opitz g/bbb syndrome	Teebi syndrome	1	1	SPECC1L (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Opitz g/bbb syndrome	Tessier facial cleft	1	1	SPECC1L (2)	0.33333	1.00000	1.299e-4	3.898e-4	25
Optic nerve disorder	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	25
Optic nerve disorder	Urinary retention	1	1	EDN1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	25
Oropharyngeal dysphagia	X-linked progressive cerebellar ataxia	1	1	ATP2B3 (3)	0.33333	1.00000	1.299e-4	3.898e-4	422
Osteogenic sarcoma	Retinoblastoma	1	1	RB1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Osteopetrosis and infantile neuroaxonal dystrophy	PLA2G6-associated neurodegeneration	1	1	PLA2G6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	123
Osteopetrosis and infantile neuroaxonal dystrophy	Worth syndrome	1	1	LRP5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	123
Osteopetrosis and infantile neuroaxonal dystrophy	polycystic liver disease 4 with or without kidney cysts	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	123
Otofaciocervical syndrome	otofaciocervical syndrome 2	1	1	PAX1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	134
Congenital idiopathic intestinal pseudoobstruction	Otopalatodigital syndrome	1	1	FLNA (5)	0.33333	1.00000	1.299e-4	3.898e-4	42
Otopalatodigital spectrum disorder	Otopalatodigital syndrome	1	1	FLNA (5)	0.33333	1.00000	1.299e-4	3.898e-4	42
Otopalatodigital syndrome	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.33333	1.00000	1.299e-4	3.898e-4	42
Otopalatodigital syndrome	X-linked ehlers-danlos syndrome	1	1	FLNA (6)	0.33333	1.00000	1.299e-4	3.898e-4	42
Otopalatodigital syndrome	X-linked keloid scarring syndrome	1	1	FLNA (5)	0.33333	1.00000	1.299e-4	3.898e-4	42
Collagenopathy	Otospondylomegaepiphyseal dysplasia	1	1	COL2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	15
Coxa plana	Otospondylomegaepiphyseal dysplasia	1	1	COL2A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	15
Czech dysplasia	Otospondylomegaepiphyseal dysplasia	1	1	COL2A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	15
Dysspondyloenchondromatosis	Otospondylomegaepiphyseal dysplasia	1	1	COL2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	15
kniest dysplasia	Otospondylomegaepiphyseal dysplasia	1	1	COL2A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	15
Palmoplantar keratoderma with congenital alopecia	Schwartz-lelek syndrome	1	1	GJA1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Pancreatic cyst	von hippel-lindau disease	1	1	VHL (2)	0.33333	1.00000	1.299e-4	3.898e-4	403
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Testicular anomaly with congenital heart disease	1	1	GATA4 (5)	0.33333	1.00000	1.299e-4	3.898e-4	106
Papa syndrome	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	1	1	PSTPIP1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Papillorenal syndrome	Renal hypoplasia	1	1	PAX2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Paramyotonia congenita	Potassium-aggravated myotonia	1	1	SCN4A (5)	0.33333	1.00000	1.299e-4	3.898e-4	170
Paramyotonia congenita	SCN4A-related myopathy, autosomal recessive	1	1	SCN4A (6)	0.33333	1.00000	1.299e-4	3.898e-4	170
Paresis	Trismus	1	1	BCHE (2)	0.33333	1.00000	1.299e-4	3.898e-4	397
Cardiac tamponade	Paresis	1	1	PLAT (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Childhood-onset glut1 deficiency syndrome 2	Paroxysmal dystonia	1	0	PRRT2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	85
Paroxysmal ventricular fibrillation	SCN5A-related cardiac rhythm disorder	1	1	SCN5A (2)	0.33333	1.00000	1.299e-4	3.898e-4	140
Partial adenosine deaminase deficiency	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	1	1	ADA (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Partial atrioventricular canal defect	Testicular anomaly with congenital heart disease	1	1	GATA4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	106
Patterson stevenson fontaine syndrome	Triphalangeal thumb-polysyndactyly syndrome	1	1	LMBR1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital aniridia	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Pelger-huet anomaly	Reynolds syndrome	1	1	LBR (6)	0.33333	1.00000	1.299e-4	3.898e-4	281
Pelger-huet anomaly	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	1	1	LBR (5)	0.33333	1.00000	1.299e-4	3.898e-4	281
Pelger-huet anomaly	regressive spondylometaphyseal dysplasia	1	1	LBR (6)	0.33333	1.00000	1.299e-4	3.898e-4	281
Malignant hyperthermia	Periodic paralysis with transient compartment-like syndrome	1	1	CACNA1S (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Peripheral pulmonary artery stenosis	Tricho-dento-osseous syndrome	1	1	DLX3 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Fructokinase deficiency	Fructosuria	1	1	KHK (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Feingold syndrome	Gallbladder agenesis	1	1	MYCN (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital erythropoietic porphyria	GATA1-Related X-Linked Cytopenia	1	1	GATA1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	132
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	1	GATA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	106
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes	Partial atrioventricular canal defect	1	1	GATA4 (3)	0.33333	1.00000	1.299e-4	3.898e-4	106
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	1	GATA6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
gaze palsy, familial horizontal, with progressive scoliosis 1	Horizontal gaze palsy with progressive scoliosis	1	1	ROBO3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	430
Genetic hemolytic uremic syndrome	Panuveitis	1	0	CFH (1)	0.33333	1.00000	1.299e-4	3.898e-4	32
Genetic hyperferritinemia without iron overload	Hyperferritinemia	1	1	FTL (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Genetic panhypopituitarism	X-linked congenital generalized hypertrichosis	1	1	SOX3 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Genetic panhypopituitarism	SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	1	1	SOX3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Genetic recurrent myoglobinuria	myoglobinuria, acute recurrent, autosomal recessive	1	1	LPIN1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Genitourinary disease	Hengel maroofian schols syndrome	1	1	BCAS3 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Giant axonal neuropathy	giant axonal neuropathy 1	1	1	GAN (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Gillespie syndrome	spinocerebellar ataxia type 29	1	1	ITPR1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Gillespie syndrome	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Corticosterone methyl oxidase type i	Glucocorticoid-remediable aldosteronism	1	0	CYP11B2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	177
Corticosterone monooxygenase deficiency	Glucocorticoid-remediable aldosteronism	1	1	CYP11B2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	177
Corticosterone methyloxidase deficiency	Glucocorticoid-remediable aldosteronism	1	1	CYP11B2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	177
Familial hypoaldosteronism	Glucocorticoid-remediable aldosteronism	1	1	CYP11B2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	177
Glucocorticoid-remediable aldosteronism	Hyperreninemic hypoaldosteronism	1	1	CYP11B2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	177
Childhood-onset glut1 deficiency syndrome 2	GLUT1 deficiency syndrome	1	1	SLC2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
glutaric acidemia type 3	Post-operative myocardial infarction	1	1	SUGCT (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Glycoprotein ia deficiency	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1	1	1	MOCS2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Gm1 gangliosidosis	mucopolysaccharidosis type 4B	1	1	GLB1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Gm2 gangliosidosis	Tay-Sachs disease AB variant	1	1	GM2A (3)	0.33333	1.00000	1.299e-4	3.898e-4	
GPR143-related foveal hypoplasia	X-linked ocular abinism	1	1	GPR143 (3)	0.33333	1.00000	1.299e-4	3.898e-4	432
Granulosa cell tumor of ovary	Sertoli-leydig cell tumor of ovary	1	0	DICER1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	216
greenberg dysplasia	Pelger-huet anomaly	1	1	LBR (6)	0.33333	1.00000	1.299e-4	3.898e-4	281
greig cephalopolysyndactyly syndrome	Pilosebaceous disorder	1	1	GLI3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	192
Groenouw corneal dystrophy	Thiel-behnke corneal dystrophy	1	1	TGFBI (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Growth hormone insensitivity syndrome	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	1	1	STAT5B (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Growth hormone insensitivity syndrome	growth hormone insensitivity with immune dysregulation 1, autosomal recessive	1	1	STAT5B (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Growth hormone insensitivity syndrome with immune dysregulation	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	1	1	STAT5B (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Growth hormone insensitivity syndrome with immune dysregulation	growth hormone insensitivity with immune dysregulation 1, autosomal recessive	1	1	STAT5B (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Hairy cell leukemia	Tethered cord syndrome	1	1	BRAF (2)	0.33333	1.00000	1.299e-4	3.898e-4	200
Hallermanns syndrome	Palmoplantar keratoderma with congenital alopecia	1	1	GJA1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	107
Hallopeau siemens disease	recessive dystrophic epidermolysis bullosa	1	1	COL7A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	252
HBA1-related alpha thalassemia spectrum	methemoglobinemia, alpha type	1	0	HBA1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	24
erythrocytosis, familial, 7	HBA1-related alpha thalassemia spectrum	1	0	HBA1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	24
HBA2-related alpha thalassemia spectrum	methemoglobinemia, alpha type	1	0	HBA2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	24
erythrocytosis, familial, 7	HBA2-related alpha thalassemia spectrum	1	0	HBA2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	24
hearing loss, X-linked 6	X-linked diffuse leiomyomatosis with alport syndrome	1	1	COL4A6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	91
Heerfordt syndrome	Thromboangiitis obliterans	1	0	HLA-DRB1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	254
Hemimelia of limb	Proximal symphalangism	1	1	NOG (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Hemimelia of limb	NOG-related symphalangism spectrum disorder	1	1	NOG (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Hemimelia of limb	Zygodactyly	1	1	HOXD13 (2)	0.33333	1.00000	1.299e-4	3.898e-4	111
hemochromatosis type 1	Polymyalgia rheumatica	1	1	HFE (2)	0.33333	1.00000	1.299e-4	3.898e-4	251
hemochromatosis type 1	Porphyruria	1	1	HFE (2)	0.33333	1.00000	1.299e-4	3.898e-4	251
hemochromatosis type 5	Vitreoretinochoroidopathy	1	1	FTH1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	415
Hemoglobin lepore beta thalassemia	Lepore-beta-thalassemia syndrome	1	1	HBD (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Hemophilia b	thrombophilia due to thrombin defect	1	1	F2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	408
Hemophilia b	Hemophilia b carriers	1	1	F9 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Hemophilia b	thrombophilia, X-linked, due to factor 9 defect	1	1	F9 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Hepatic veno occlusive disease with immunodeficiency	hepatic veno-occlusive disease-immunodeficiency syndrome	1	1	SP110 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	Retinal arterial tortuosity	1	1	COL4A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	33
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	Simpson syndrome	1	1	KAT6B (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Hereditary folate malabsorption	Malabsorption syndrome	1	1	SLC46A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	428
hereditary hyperferritinemia with congenital cataracts	Hyperferritinemia	1	1	FTL (4)	0.33333	1.00000	1.299e-4	3.898e-4	
hereditary spastic paraplegia 8	Stress urinary incontinence	1	1	WASHC5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
hereditary thrombocytopenia and hematologic cancer predisposition syndrome	Transient myeloproliferative disorder	1	1	RUNX1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	132
hermansky-pudlak syndrome 10	X-linked ocular abinism	1	1	AP3D1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	432
Intellectual developmental disorder speech peripheral neuropathy	intellectual developmental disorder with speech delay and axonal peripheral neuropathy	1	1	NEMF (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Intellectual disability with craniofacial anomalies and cardiac defects	Intellectual disability with craniofacial dysmorphism and macrocephaly	1	1	H1-4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	286
Interleukin 1 receptor antagonist deficiency	Sclerosis	1	1	IL1RN (2)	0.33333	1.00000	1.299e-4	3.898e-4	219
Interleukin 2 receptor deficiency	Neonatal diabetes mellitus with congenital hypothyroidism	1	1	IL2RA (3)	0.33333	1.00000	1.299e-4	3.898e-4	416
Intermittent hydrarthrosis	TNF receptor 1-associated periodic fever syndrome	1	1	TNFRSF1A (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Interrupted aortic arch	Splenic hypoplasia	1	0	NKX2-5 (1)	0.33333	1.00000	1.299e-4	3.898e-4	166
Interstitial nephritis	karyomegalic interstitial nephritis	1	1	FAN1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Intestinal polyposis	peutz-jeghers syndrome	1	1	STK11 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Intracranial embolism and thrombosis	quebec platelet disorder	1	1	PLAU (3)	0.33333	1.00000	1.299e-4	3.898e-4	29
Cardiac tamponade	Intracranial embolism and thrombosis	1	1	PLAT (2)	0.33333	1.00000	1.299e-4	3.898e-4	29
IRIDA syndrome	Iron-refractory iron deficiency anemia	1	1	TMPRSS6 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Iridogoniodysgenesis	Ring dermoid of cornea	1	1	PITX2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	82
Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	Patellar aplasia	1	1	TBX4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	27
Jervell and lange-nielsen syndrome	long qt syndrome 5	1	1	KCNE1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Juvenile hyperuricemic nephropathy	renal tubular dysgenesis of genetic origin	1	1	REN (3)	0.33333	1.00000	1.299e-4	3.898e-4	70
juvenile polyposis syndrome	telangiectasia, hereditary hemorrhagic, type 1	1	0	ENG (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	KAT6B-related multiple congenital anomalies syndrome	1	1	KAT6B (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Keppen-lubinsky syndrome	MYH-6 related congenital heart defects	1	1	MYH6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	328
Keratitis ichthyosis hearing loss syndrome	Senter syndrome	1	1	GJB2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	68
Keratitis ichthyosis hearing loss syndrome	Vohwinkel syndrome	1	1	GJB2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	68
keutel syndrome	Vascular calcification	1	1	MGP (3)	0.33333	1.00000	1.299e-4	3.898e-4	81
kidney disorder	Nephronophthisis-like nephropathy	1	1	SLC41A1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Lactic acidosis	Normal pressure hydrocephalus	1	0	PMPCA (1)	0.33333	1.00000	1.299e-4	3.898e-4	158
Cooleys anemia	Lepore-beta-thalassemia syndrome	1	0	HBB (1)	0.33333	1.00000	1.299e-4	3.898e-4	18
Dominant beta-thalassemia	Lepore-beta-thalassemia syndrome	1	1	HBB (4)	0.33333	1.00000	1.299e-4	3.898e-4	18
Hemoglobin c disease	Lepore-beta-thalassemia syndrome	1	1	HBB (3)	0.33333	1.00000	1.299e-4	3.898e-4	18
Hemoglobin c beta thalassemia	Lepore-beta-thalassemia syndrome	1	1	HBB (2)	0.33333	1.00000	1.299e-4	3.898e-4	18
Lethal acantholytic epidermolysis bullosa	Naxos disease	1	1	JUP (6)	0.33333	1.00000	1.299e-4	3.898e-4	206
Lipomatosis	PTEN hamartoma tumor syndrome	1	1	PTEN (3)	0.33333	1.00000	1.299e-4	3.898e-4	317
Lipomatosis	maturity-onset diabetes of the young type 8	1	1	CEL (2)	0.33333	1.00000	1.299e-4	3.898e-4	317
lissencephaly with cerebellar hypoplasia	Sacroiliac arthritis	1	1	RELN (2)	0.33333	1.00000	1.299e-4	3.898e-4	209
lissencephaly with cerebellar hypoplasia	Sacroiliac joint synovitis	1	1	RELN (2)	0.33333	1.00000	1.299e-4	3.898e-4	209
Lissencephaly, x-linked	X-linked lissencephaly	1	1	ARX (6)	0.33333	1.00000	1.299e-4	3.898e-4	255
Lissencephaly, x-linked	X-linked spasticity-intellectual disability-epilepsy syndrome	1	1	ARX (5)	0.33333	1.00000	1.299e-4	3.898e-4	255
Liver cyst	Polycystic kidney disease with tuberous sclerosis	1	1	PKD1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	48
Liver cyst	Renovascular hypertension	1	0	PKD1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	48
Liver cyst	Pancreatic cyst	1	0	PKD1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Liver cyst	Polycystic kidneys, severe infantile with tuberous sclerosis	1	0	PKD1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	48
LRP5-related exudative vitreoretinopathy	Osteopetrosis and infantile neuroaxonal dystrophy	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	123
LRP5-related exudative vitreoretinopathy	Retinopathy background	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Central core disease	Malignant hyperthermia	1	1	RYR1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	268
Benign samaritan congenital myopathy	Malignant hyperthermia	1	1	RYR1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	268
Central core myopathy	Malignant hyperthermia	1	1	RYR1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	268
Congenital multicore myopathy with external ophthalmoplegia	Malignant hyperthermia	1	1	RYR1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	268
Malignant hyperthermia	malignant hyperthermia, susceptibility to, 1	1	1	RYR1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	268
Malignant hyperthermia	malignant hyperthermia, susceptibility to, 5	1	1	CACNA1S (5)	0.33333	1.00000	1.299e-4	3.898e-4	
perrault syndrome 3	Xq27.3 q28 duplication syndrome	1	1	CLPP (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Ataxia with deafness and vision loss	phosphoribosylpyrophosphate synthetase superactivity	1	1	PRPS1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	253
phytanoyl-CoA hydroxylase deficiency	Refsum disease	1	1	PHYH (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Pilosebaceous disorder	Tibial hemimelia	1	1	GLI3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	192
POLE-related polyposis and colorectal cancer syndrome	Xfe progeroid syndrome	1	1	POLE (2)	0.33333	1.00000	1.299e-4	3.898e-4	
POLR3A-related disorder	Tremor-ataxia-central hypomyelination syndrome	1	1	POLR3A (3)	0.33333	1.00000	1.299e-4	3.898e-4	59
POLR3B-related disorder	Tremor-ataxia-central hypomyelination syndrome	1	1	POLR3B (2)	0.33333	1.00000	1.299e-4	3.898e-4	59
polycystic liver disease 4 with or without kidney cysts	Retinopathy background	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Posterior column ataxia with retinitis pigmentosa	Retinopathy-sensory neuropathy syndrome	1	1	FLVCR1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Posttraumatic porencephalic cyst of brain	1	1	COL4A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	33
Preaxial polydactyly with upper back hypertrichosis	Triphalangeal thumb-polysyndactyly syndrome	1	1	SHH (3)	0.33333	1.00000	1.299e-4	3.898e-4	230
Primary coenzyme q10 deficiency	primary coenzyme Q10 deficiency 8	1	1	COQ6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	399
Primary cutaneous anaplastic large cell lymphoma	Tyrosine kinase 2 deficiency	1	1	TYK2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Prostatic disease	Water intoxication	1	1	OXT (2)	0.33333	1.00000	1.299e-4	3.898e-4	
PRPH2-related retinopathy	Retinitis pigmentosa, digenic	1	1	PRPH2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	69
Ataxia with deafness and vision loss	PRPS1 deficiency disorder	1	1	PRPS1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	253
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	X-linked dyskeratosis congenita	1	1	RTEL1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Pyoderma gangrenosum	Sweet syndrome	1	1	PTPN6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Pyruvate kinase deficiency	pyruvate kinase deficiency of red cells	1	1	PKLR (2)	0.33333	1.00000	1.299e-4	3.898e-4	
recombinase activating gene 2 deficiency	Salla disease	1	1	RAG2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	176
Recurrent multifocal osteomyelitis	Sclerosis	1	1	IL1RN (2)	0.33333	1.00000	1.299e-4	3.898e-4	219
red color blindness	X-linked cone dysfunction syndrome with myopia	1	1	OPN1LW (2)	0.33333	1.00000	1.299e-4	3.898e-4	217
red-green color blindness	X-linked cone dysfunction syndrome with myopia	1	1	OPN1MW (2)	0.33333	1.00000	1.299e-4	3.898e-4	217
Reducing body myopathy	Scapuloperoneal myopathy	1	1	FHL1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Reducing body myopathy	X-linked emery-dreifuss muscular dystrophy	1	1	FHL1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	433
Reducing body myopathy	X-linked myopathy	1	1	FHL1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	433
renal tubular dysgenesis - ACE	Rheumatic disease of mitral valve	1	1	ACE (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
renal tubular dysgenesis - ACE	Rheumatic mitral regurgitation	1	1	ACE (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
renal tubular dysgenesis of genetic origin	Tonne-kalscheuer syndrome	1	1	REN (2)	0.33333	1.00000	1.299e-4	3.898e-4	70
Emery dreifuss muscular dystrophy	Restrictive dermopathy	1	1	LMNA (6)	0.33333	1.00000	1.299e-4	3.898e-4	83
Restrictive dermopathy	Severe lipodystrophic laminopathy	1	1	LMNA (6)	0.33333	1.00000	1.299e-4	3.898e-4	83
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Restrictive dermopathy	1	1	LMNA (5)	0.33333	1.00000	1.299e-4	3.898e-4	83
Cerebral small vessel disease	Retinal arterial tortuosity	1	1	COL4A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	33
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	1	1	GPHN (2)	0.33333	1.00000	1.299e-4	3.898e-4	322
Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness	X-linked cone-rod dystrophy	1	1	RPGR (4)	0.33333	1.00000	1.299e-4	3.898e-4	385
Retinopathy background	Worth syndrome	1	1	LRP5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Retractile testis	Ventricular tachycardia	1	1	GNAI2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Rhabdoid tumor	rhabdoid tumor predisposition syndrome 1	1	1	SMARCB1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	299
Rhabdoid tumor predisposition syndrome	Small cell ovary carcinoma	1	1	SMARCA4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	261
Rhabdoid tumor predisposition syndrome	rhabdoid tumor predisposition syndrome 2	1	1	SMARCA4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	261
Rhabdoid tumor predisposition syndrome	rhabdoid tumor predisposition syndrome 1	1	1	SMARCB1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
rhabdoid tumor predisposition syndrome 2	Thoracic neoplasms	1	1	SMARCA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	261
Rhyns syndrome	Senior-boichis syndrome	1	1	TMEM67 (5)	0.33333	1.00000	1.299e-4	3.898e-4	315
ritscher-schinzel syndrome 1	Stress urinary incontinence	1	1	WASHC5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cone-rod dystrophy, x-linked	RPGR-related retinopathy	1	1	RPGR (4)	0.33333	1.00000	1.299e-4	3.898e-4	385
RPGR-related retinopathy	X-linked cone-rod dystrophy	1	1	RPGR (2)	0.33333	1.00000	1.299e-4	3.898e-4	385
SAMD9-related spectrum and myeloid neoplasm risk	Spectrum and myeloid neoplasm risk	1	1	SAMD9 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
SAMD9L-related spectrum and myeloid neoplasm risk	Spectrum and myeloid neoplasm risk	1	1	SAMD9L (2)	0.33333	1.00000	1.299e-4	3.898e-4	
holoprosencephaly 3	Triphalangeal thumb-polysyndactyly syndrome	1	1	SHH (3)	0.33333	1.00000	1.299e-4	3.898e-4	230
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Mitral valve disease	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Rheumatic disease of mitral valve	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Rheumatic mitral regurgitation	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Horizontal gaze palsy with progressive scoliosis	mirror movements 1 and/or agenesis of the corpus callosum	1	1	DCC (2)	0.33333	1.00000	1.299e-4	3.898e-4	430
Hyper-igd syndrome	Mevalonate kinase deficiency	1	1	MVK (3)	0.33333	1.00000	1.299e-4	3.898e-4	327
hyper-IgM syndrome type 2	Hyper-immunoglobulin syndrome	1	1	AICDA (2)	0.33333	1.00000	1.299e-4	3.898e-4	266
hyper-IgM syndrome type 3	Hyper-immunoglobulin syndrome	1	1	CD40 (2)	0.33333	1.00000	1.299e-4	3.898e-4	266
hypercholesterolemia, autosomal dominant, type B	Isolated systolic hypertension	1	1	APOB (2)	0.33333	1.00000	1.299e-4	3.898e-4	201
Hyperferritinemia	neuroferritinopathy	1	1	FTL (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Hyperkalemia	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Hyperkalemia	Ventricular outflow obstruction	1	1	INS (2)	0.33333	1.00000	1.299e-4	3.898e-4	224
Hyperprolinemia	hyperprolinemia type 2	1	1	ALDH4A1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Hyperprolinemia	hyperprolinemia type 1	1	1	PRODH (5)	0.33333	1.00000	1.299e-4	3.898e-4	
ifap syndrome 1, with or without bresheck syndrome	Keratosis follicularis spinulosa decalvans, x-linked	1	1	MBTPS2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	346
ifap syndrome 1, with or without bresheck syndrome	Olmsted syndrome, x-linked	1	1	MBTPS2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	346
IFT140-related recessive ciliopathy	Saldino-mainzer syndrome	1	1	IFT140 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	IKBKG-related immunodeficiency with or without ectodermal dysplasia	1	1	IKBKG (3)	0.33333	1.00000	1.299e-4	3.898e-4	12
Autoinflammatory disease, systemic, x-linked	IKBKG-related immunodeficiency with or without ectodermal dysplasia	1	1	IKBKG (4)	0.33333	1.00000	1.299e-4	3.898e-4	12
Bloch sulzberger syndrome	IKBKG-related immunodeficiency with or without ectodermal dysplasia	1	1	IKBKG (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
IL10-related early-onset inflammatory bowel disease	Panuveitis	1	1	IL10 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
immunodeficiency due to CD25 deficiency	Neonatal diabetes mellitus with congenital hypothyroidism	1	1	IL2RA (3)	0.33333	1.00000	1.299e-4	3.898e-4	416
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	Oculopharyngeal muscular dystrophy	1	1	HNRNPA2B1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	incontinentia pigmenti	1	1	IKBKG (3)	0.33333	1.00000	1.299e-4	3.898e-4	12
Autoinflammatory disease, systemic, x-linked	incontinentia pigmenti	1	1	IKBKG (4)	0.33333	1.00000	1.299e-4	3.898e-4	12
Bloch sulzberger syndrome	incontinentia pigmenti	1	1	IKBKG (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
Childhood-onset glut1 deficiency syndrome 2	infantile convulsions and choreoathetosis	1	1	PRRT2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	85
inherited thrombocytopenia	Myofibromatosis	1	1	NOTCH3 (4)	0.33333	1.00000	1.299e-4	3.898e-4	374
Insulin resistant diabetes mellitus	Insulin-resistant diabetes mellitus with acanthosis nigricans	1	1	INSR (3)	0.33333	1.00000	1.299e-4	3.898e-4	274
Donohue syndrome	Insulin resistant diabetes mellitus	1	1	INSR (6)	0.33333	1.00000	1.299e-4	3.898e-4	274
Insulin resistant diabetes mellitus	Type a insulin resistance syndrome	1	0	INSR (1)	0.33333	1.00000	1.299e-4	3.898e-4	274
Insulin resistant diabetes mellitus	Insulin resistant diabetes mellitus with acanthosis nigricans	1	1	INSR (2)	0.33333	1.00000	1.299e-4	3.898e-4	274
Insulin resistant diabetes mellitus	Leprechaunism syndrome	1	1	INSR (2)	0.33333	1.00000	1.299e-4	3.898e-4	274
Intellectual developmental disorder autism speech	intellectual developmental disorder with autistic features and language delay, with or without seizures	1	1	TANC2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	220
Intellectual developmental disorder autism speech dysmorphic	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome	1	1	CHD1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	91
Intellectual developmental disorder dysmorphic microcephaly	Intellectual developmental disorder growth microcephaly	1	1	CTCF (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	Osteopathia striata with cranial sclerosis	1	1	CTNNB1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	81
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	Vascular calcification	1	1	CTNNB1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	81
Ebstein anomaly	Intellectual developmental disorder hypotonia behavioral	1	1	CDK8 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Intellectual developmental disorder hypotonic x-linked	X-linked alpha-thalassemia-intellectual disability syndrome	1	1	ATRX (5)	0.33333	1.00000	1.299e-4	3.898e-4	117
Intellectual developmental disorder hypotonic x-linked	Say meyer syndrome	1	0	HUWE1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	117
Intellectual developmental disorder language autism	Intellectual developmental disorder seizures hypotonia skeletal	1	1	FOXP1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	267
Intellectual developmental disorder seizures dysmorphic gait	Skraban-deardorff syndrome	1	1	WDR26 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Intellectual developmental disorder seizures dysmorphic skeletal	Intellectual developmental disorder seizures hypotonia skeletal	1	1	PIGT (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Intellectual developmental disorder seizures hypotonia skeletal	intellectual disability-severe speech delay-mild dysmorphism syndrome	1	1	FOXP1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	267
Myosin storage myopathy	Scapuloperoneal myopathy	1	1	MYH7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	104
Biventricular noncompaction cardiomyopathy	Scapuloperoneal myopathy	1	0	MYH7 (1)	0.33333	1.00000	1.299e-4	3.898e-4	104
MYH7-related skeletal myopathy	Scapuloperoneal myopathy	1	1	MYH7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	104
dilated cardiomyopathy 1S	Scapuloperoneal myopathy	1	1	MYH7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	104
Sertoli-leydig cell tumor of ovary	Vertebral anomalies with endocrine and t-cell dysfunction	1	1	DICER1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	216
SIN3A-related intellectual disability syndrome	Witteveen-kolk syndrome	1	1	SIN3A (4)	0.33333	1.00000	1.299e-4	3.898e-4	362
Skeletal system disorder	Triphalangeal thumb-polysyndactyly syndrome	1	1	SHH (2)	0.33333	1.00000	1.299e-4	3.898e-4	230
Small cell ovary carcinoma	Thoracic neoplasms	1	1	SMARCA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	261
Glucocorticoid-remediable aldosteronism	Steroid 11-beta-monooxygenase deficiency	1	1	CYP11B1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	177
syndactyly-telecanthus-anogenital and renal malformations syndrome	Toe syndactyly-telecanthus-anogenital and renal malformations syndrome	1	1	CCNQ (4)	0.33333	1.00000	1.299e-4	3.898e-4	
teebi hypertelorism syndrome 2	Teebi syndrome	1	1	CDH11 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
TEK-related primary glaucoma	Venous malformation	1	1	TEK (4)	0.33333	1.00000	1.299e-4	3.898e-4	257
Testis atrophy	Ziegler-huang syndrome	1	1	SLC30A7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Restrictive dermopathy	Tight skin contracture syndrome	1	1	ZMPSTE24 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Townes-brocks syndrome	townes-brocks syndrome 1	1	1	SALL1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Transcobalamin deficiency	transcobalamin ii deficiency	1	1	TCN2 (7)	0.33333	1.00000	1.299e-4	3.898e-4	100
Anemia, x-linked	Transient myeloproliferative disorder	1	1	GATA1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	132
Dyserythropoietic anemia with thrombocytopenia	Transient myeloproliferative disorder	1	1	GATA1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	132
Thrombocytopenia with dyserythropoietic anemia	Transient myeloproliferative disorder	1	1	GATA1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	132
Dyserythropoietic anemia with abnormal platelets and neutropenia	Transient myeloproliferative disorder	1	1	GATA1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	132
Tremor-ataxia-central hypomyelination syndrome	Wiedemann-rautenstrauch syndrome	1	1	POLR3A (3)	0.33333	1.00000	1.299e-4	3.898e-4	59
Malonic aciduria	Malonyl-coa decarboxylase deficiency	1	1	MLYCD (7)	0.33333	1.00000	1.299e-4	3.898e-4	
mandibular hypoplasia-deafness-progeroid syndrome	non-severe combined immunodeficiency due to polymerase delta deficiency	1	0	POLD1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	356
mandibuloacral dysplasia with type b lipodystrophy	Restrictive dermopathy	1	1	ZMPSTE24 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Medullary carcinoma	Medullary thyroid cancer	1	0	RET (1)	0.33333	1.00000	1.299e-4	3.898e-4	161
Medullary carcinoma	multiple endocrine neoplasia type 2B	1	1	RET (2)	0.33333	1.00000	1.299e-4	3.898e-4	161
Medullary carcinoma	multiple endocrine neoplasia type 2A	1	1	RET (2)	0.33333	1.00000	1.299e-4	3.898e-4	161
Feingold syndrome	megalencephaly-polydactyly syndrome	1	1	MYCN (6)	0.33333	1.00000	1.299e-4	3.898e-4	
melanoma-pancreatic cancer syndrome	Vulvar lichen sclerosus	1	1	CDKN2A (3)	0.33333	1.00000	1.299e-4	3.898e-4	45
mend syndrome	X-linked chondrodysplasia punctata	1	1	EBP (2)	0.33333	1.00000	1.299e-4	3.898e-4	
microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Skraban-deardorff syndrome	1	1	WDR62 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Microvascular angina	Mitral valve disease	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Microvascular angina	Rheumatic disease of mitral valve	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Microvascular angina	Rheumatic mitral regurgitation	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Middle ear cholesteatoma	Vaginal neoplasms	1	1	IL2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Middle lobe syndrome	Townes-brocks syndrome	1	1	SALL1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
mitchell syndrome	Peroxisomal acyl-coa oxidase deficiency	1	1	ACOX1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Mitral valve disease	renal tubular dysgenesis - ACE	1	1	ACE (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Mucocutaneous venous malformations	Venous malformation	1	1	TEK (4)	0.33333	1.00000	1.299e-4	3.898e-4	257
Intellectual developmental disorder seizures hypotonia skeletal	multiple congenital anomalies-hypotonia-seizures syndrome 3	1	1	PIGT (2)	0.33333	1.00000	1.299e-4	3.898e-4	
multiple endocrine neoplasia type 1	Pituitary gigantism	1	1	MEN1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	235
multiple symmetric lipomatosis with partial lipodystrophy	Nail dystrophy	1	1	MFN2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Myeloproliferative disease, unclassifiable	Myofibromatosis	1	1	PDGFRB (5)	0.33333	1.00000	1.299e-4	3.898e-4	
MYH7-related skeletal myopathy	Parieto-occipital craniosynostosis	1	1	MYH7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	104
Myosin storage myopathy	Parieto-occipital craniosynostosis	1	1	MYH7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	104
Myotonia	Paramyotonia congenita	1	1	SCN4A (5)	0.33333	1.00000	1.299e-4	3.898e-4	170
Nail dystrophy	recessive dystrophic epidermolysis bullosa	1	1	COL7A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	252
Nasu-hakola disease	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	1	1	TYROBP (6)	0.33333	1.00000	1.299e-4	3.898e-4	348
Neonatal diabetes mellitus with congenital hypothyroidism	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome	1	1	GLIS3 (6)	0.33333	1.00000	1.299e-4	3.898e-4	416
Nephronophthisis-like nephropathy	nephronophthisis-like nephropathy 1	1	1	XPNPEP3 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
neurodegeneration with brain iron accumulation 9	Vitreoretinochoroidopathy	1	1	FTH1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	415
Duplication of pituitary gland	Tessier facial cleft	1	0	PTCH2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	25
Duplication of pituitary gland	nevoid basal cell carcinoma syndrome	1	1	PTCH2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	25
Dyggve-melchior-clausen syndrome	Smith-mccort dysplasia	1	1	DYM (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Dysautonomia	Riley-day syndrome	1	1	ELP1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Dyschromatopsia	EYS-related retinopathy	1	1	EYS (2)	0.33333	1.00000	1.299e-4	3.898e-4	
dyskeratosis congenita, autosomal dominant 2	Tongue cancer	1	1	TERT (2)	0.33333	1.00000	1.299e-4	3.898e-4	1
dyskeratosis congenita, x-linked	X-linked dyskeratosis congenita	1	1	DKC1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	393
Dysphonia	Intermittent explosive disorder	1	0	COMT (1)	0.33333	1.00000	1.299e-4	3.898e-4	181
Dysphonia	perrault syndrome 5	1	1	TWNK (2)	0.33333	1.00000	1.299e-4	3.898e-4	181
Dyssegmental dysplasia	Schwartz-Jampel syndrome type 1	1	1	HSPG2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	146
Dyssegmental dysplasia	Silverman-Handmaker type dyssegmental dysplasia	1	1	HSPG2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	146
Dystrophic epidermolysis bullosa	recessive dystrophic epidermolysis bullosa	1	1	COL7A1 (8)	0.33333	1.00000	1.299e-4	3.898e-4	252
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency	X-linked ocular abinism	1	0	AP3D1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	432
East syndrome	Seizures, tonic-clonic, photosensitive	1	1	KCNJ10 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
East texas bleeding disorder	Factor v deficiency	1	1	F5 (5)	0.33333	1.00000	1.299e-4	3.898e-4	84
Ebstein anomaly	Myosin storage myopathy	1	1	MYH7 (3)	0.33333	1.00000	1.299e-4	3.898e-4	104
Ebstein anomaly	MYH7-related skeletal myopathy	1	1	MYH7 (3)	0.33333	1.00000	1.299e-4	3.898e-4	104
ectodermal dysplasia and immunodeficiency 2	Interleukin 1 receptor antagonist deficiency	1	1	NFKBIA (2)	0.33333	1.00000	1.299e-4	3.898e-4	219
Ectopic rhythm	SCN5A-related cardiac rhythm disorder	1	1	SCN5A (2)	0.33333	1.00000	1.299e-4	3.898e-4	140
ehlers-danlos syndrome, classic type	Rupture, spontaneous	1	1	COL5A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
ELOVL4-related maculopathy	Elsahy-waters syndrome	1	1	ELOVL4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Elsahy-waters syndrome	teebi hypertelorism syndrome 2	1	0	CDH11 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Elsahy-waters syndrome	Erythrokeratodermia with ataxia	1	1	ELOVL4 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Embryonal carcinoma	Gingivitis	1	1	TNFRSF8 (2)	0.33333	1.00000	1.299e-4	3.898e-4	334
Encephaloclastic proliferative vasculopathy	Posterior column ataxia with retinitis pigmentosa	1	1	FLVCR2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Encephalocraniocutaneous lipomatosis	Osteoglophonic dwarfism	1	1	FGFR1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	139
Encephalocraniocutaneous lipomatosis	Osteoglophonic dysplasia	1	1	FGFR1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	139
Encephalocraniocutaneous lipomatosis	Pfeiffer syndrome type 1	1	1	FGFR1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	139
Encephalocraniocutaneous lipomatosis	Hartsfield-Bixler-Demyer syndrome	1	1	FGFR1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	139
Enteropathy	Primary hypertrophic osteoarthropathy	1	1	SLCO2A1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Epidermolysis bullosa simplex	Sjogren-larsson syndrome	1	1	KRT14 (2)	0.33333	1.00000	1.299e-4	3.898e-4	270
Epidermolytic hyperkeratosis	Keratosis of greither	1	1	KRT1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	187
Epidermolytic ichthyosis	Keratosis of greither	1	1	KRT1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	187
Erythrocyte amp deaminase deficiency	Myoadenylate deaminase deficiency	1	1	AMPD3 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Erythrocytosis due to tissue hypoxemia	Pancreatic cyst	1	0	VHL (1)	0.33333	1.00000	1.299e-4	3.898e-4	403
Erythrokeratodermia-cardiomyopathy syndrome	Lethal acantholytic epidermolysis bullosa	1	1	DSP (3)	0.33333	1.00000	1.299e-4	3.898e-4	206
Erythrokeratodermia-cardiomyopathy syndrome	Ventricular arrhythmia	1	0	DSP (1)	0.33333	1.00000	1.299e-4	3.898e-4	206
Esophageal and gastric varices	Sweat gland disease	1	1	SST (2)	0.33333	1.00000	1.299e-4	3.898e-4	340
Factor h deficiency	Panuveitis	1	1	CFH (2)	0.33333	1.00000	1.299e-4	3.898e-4	32
factor V and factor VIII, combined deficiency of, type 1	Factor v deficiency	1	1	LMAN1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Factor v deficiency	thrombophilia due to activated protein c resistance	1	1	F5 (5)	0.33333	1.00000	1.299e-4	3.898e-4	84
Factor viii deficiency	Hemophilia a carriers	1	1	F8 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Factor xiii deficiency	factor XIII, A subunit, deficiency of	1	1	F13A1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	354
Factor xiii deficiency	factor XIII, b subunit, deficiency of	1	1	F13B (6)	0.33333	1.00000	1.299e-4	3.898e-4	354
FADD-related immunodeficiency	Oculoauricular syndrome	1	1	FADD (3)	0.33333	1.00000	1.299e-4	3.898e-4	
familial acute necrotizing encephalopathy	Paramyotonia congenita	1	1	RANBP2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	170
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	1	1	COL4A1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	33
familial hypobetalipoproteinemia 1	Isolated systolic hypertension	1	1	APOB (2)	0.33333	1.00000	1.299e-4	3.898e-4	201
Childhood-onset glut1 deficiency syndrome 2	Familial infantile convulsions with paroxysmal choreoathetosis	1	1	PRRT2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	85
familial juvenile hyperuricemic nephropathy type 2	Juvenile hyperuricemic nephropathy	1	1	REN (3)	0.33333	1.00000	1.299e-4	3.898e-4	70
familial juvenile hyperuricemic nephropathy type 2	Tonne-kalscheuer syndrome	1	1	REN (2)	0.33333	1.00000	1.299e-4	3.898e-4	70
Familial ventricular tachycardia	Retractile testis	1	1	GNAI2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
FAT4-related neurodevelopmental disorder	Van maldergem syndrome	1	1	FAT4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Feingold syndrome	Progressive contractures limb-girdle weakness muscle dystrophy syndrome	1	1	TTN (3)	0.33333	1.00000	1.299e-4	3.898e-4	221
Early-onset myopathy with fatal cardiomyopathy	Feingold syndrome	1	1	TTN (4)	0.33333	1.00000	1.299e-4	3.898e-4	221
Feingold syndrome	myopathy, myofibrillar, 9, with early respiratory failure	1	1	TTN (2)	0.33333	1.00000	1.299e-4	3.898e-4	221
Feingold syndrome	tibial muscular dystrophy	1	1	TTN (2)	0.33333	1.00000	1.299e-4	3.898e-4	221
dilated cardiomyopathy 1G	Feingold syndrome	1	1	TTN (2)	0.33333	1.00000	1.299e-4	3.898e-4	221
Feingold syndrome	Feingold syndrome type 1	1	1	MYCN (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Atelosteogenesis	FLNB-associated autosomal dominant filamin related bone disorder	1	1	FLNB (7)	0.33333	1.00000	1.299e-4	3.898e-4	
FLVCR1-related retinopathy with or without ataxia	Posterior column ataxia with retinitis pigmentosa	1	1	FLVCR1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	Infantile myoclonic epilepsy	1	1	TBC1D24 (2)	0.33333	1.00000	1.299e-4	3.898e-4	105
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	Periodic paralysis	1	1	TBC1D24 (2)	0.33333	1.00000	1.299e-4	3.898e-4	105
focal segmental glomerulosclerosis 7	Renal hypoplasia	1	1	PAX2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Fowler syndrome	Posterior column ataxia with retinitis pigmentosa	1	1	FLVCR2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
FOXC1-related anterior segment dysgenesis	Iridogoniodysgenesis	1	1	FOXC1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	82
fragile x syndrome	Xq27.3 q28 duplication syndrome	1	1	FMR1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
free sialic acid storage disease	Salla disease	1	1	SLC17A5 (7)	0.33333	1.00000	1.299e-4	3.898e-4	176
Congenital idiopathic intestinal pseudoobstruction	Frontometaphyseal dysplasia	1	1	FLNA (5)	0.33333	1.00000	1.299e-4	3.898e-4	42
Frontometaphyseal dysplasia	Otopalatodigital spectrum disorder	1	1	FLNA (5)	0.33333	1.00000	1.299e-4	3.898e-4	42
Frontometaphyseal dysplasia	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.33333	1.00000	1.299e-4	3.898e-4	42
Frontometaphyseal dysplasia	X-linked ehlers-danlos syndrome	1	1	FLNA (6)	0.33333	1.00000	1.299e-4	3.898e-4	42
Frontometaphyseal dysplasia	X-linked keloid scarring syndrome	1	1	FLNA (5)	0.33333	1.00000	1.299e-4	3.898e-4	42
Frontonasal dysplasia with alopecia and genital anomaly	Parietal foramina	1	1	ALX4 (8)	0.33333	1.00000	1.299e-4	3.898e-4	108
frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Welander distal myopathy	1	1	SQSTM1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Anemia, x-linked	Cutaneous porphyria	1	1	GATA1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	132
Cutaneous porphyria	Dyserythropoietic anemia with thrombocytopenia	1	1	GATA1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	132
Cutaneous porphyria	Thrombocytopenia with dyserythropoietic anemia	1	1	GATA1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	132
Cutaneous porphyria	Dyserythropoietic anemia with abnormal platelets and neutropenia	1	1	GATA1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	132
Cyclic hematopoiesis	Cyclic neutropenia	1	1	ELANE (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Cystathionine beta-synthase deficiency	Periportal fibrosis	1	0	PKHD1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	74
Cystathionine beta-synthase deficiency	Homocystinuria	1	1	CBS (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Cystinosis	Ocular cystinosis	1	1	CTNS (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Cytochrome-b5 reductase deficiency	Dihydrolipoamide dehydrogenase deficiency	1	1	CYB5R3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	429
Dacryocystitis	Recurrent multifocal osteomyelitis	1	1	IL1RN (3)	0.33333	1.00000	1.299e-4	3.898e-4	219
Dacryocystitis	Interleukin 1 receptor antagonist deficiency	1	0	IL1RN (1)	0.33333	1.00000	1.299e-4	3.898e-4	219
Deafness enamel hypoplasia nail defects	Spinocerebellar ataxia blindness deafness syndrome	1	1	PEX6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	141
Deafness enamel hypoplasia nail defects	peroxisome biogenesis disorder due to PEX1 defect	1	1	PEX1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	141
Deafness with congenital onychodystrophy	Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	1	1	TBC1D24 (2)	0.33333	1.00000	1.299e-4	3.898e-4	105
Deafness with congenital onychodystrophy	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	1	1	TBC1D24 (2)	0.33333	1.00000	1.299e-4	3.898e-4	105
Deafness with congenital onychodystrophy	Deafness-onychodystrophy syndrome	1	1	ATP6V1B2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	105
Deafness-enamel hypoplasia-nail defects syndrome	Spinocerebellar ataxia blindness deafness syndrome	1	0	PEX6 (1)	0.33333	1.00000	1.299e-4	3.898e-4	141
Deafness-enamel hypoplasia-nail defects syndrome	peroxisome biogenesis disorder due to PEX1 defect	1	1	PEX1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	141
Deafness-onychodystrophy syndrome	Doors syndrome	1	1	ATP6V1B2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	105
Deafness, digenic	Keratitis ichthyosis hearing loss syndrome	1	1	GJB2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	68
Deafness, digenic	Peripheral neuropathy with sensorineural hearing impairment syndrome	1	1	GJB3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	68
Deafness, dystonia, and cerebral hypomyelination	X-linked cerebral adrenoleukodystrophy	1	1	ABCD1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Deafness, dystonia, and cerebral hypomyelination	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	1	1	BCAP31 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Doors syndrome	1	1	TBC1D24 (4)	0.33333	1.00000	1.299e-4	3.898e-4	105
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Infantile myoclonic epilepsy	1	1	TBC1D24 (2)	0.33333	1.00000	1.299e-4	3.898e-4	105
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Periodic paralysis	1	1	TBC1D24 (2)	0.33333	1.00000	1.299e-4	3.898e-4	105
Deletion 5q35 syndrome	Interrupted aortic arch	1	1	NKX2-5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	166
Deletion 5q35 syndrome	NKX2.5-related congenital, conduction and myopathic heart disease	1	1	NKX2-5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	166
Delpire-mcneill syndrome	Lymphatic system disease	1	1	SLC12A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Delta zero thalassemia	Lepore-beta-thalassemia syndrome	1	0	HBD (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Delta-thalassemia	Lepore-beta-thalassemia syndrome	1	0	HBD (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Den hoed-de boer-voisin syndrome	Intellectual developmental disorder seizures extrapyramidal	1	1	SATB1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Deoxyguanosine kinase deficiency	SAMHD1-related type 1 interferonopathy	1	1	SAMHD1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	159
Caffey disease	Dermatofibrosarcoma protuberans	1	1	COL1A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	93
Dermatofibrosarcoma protuberans	Maternal hypertension	1	1	COL1A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	93
Dermatofibrosarcoma protuberans	Rhizomelia	1	1	COL1A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	93
COL1A1-related Ehlers-Danlos syndrome	Dermatofibrosarcoma protuberans	1	1	COL1A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	93
Dermatopathia pigmentosa reticularis	Sjogren-larsson syndrome	1	1	KRT14 (6)	0.33333	1.00000	1.299e-4	3.898e-4	270
11p partial monosomy syndrome	Desmoplastic small round cell tumor	1	1	WT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	86
Denys drash syndrome	Desmoplastic small round cell tumor	1	1	WT1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	86
Desmoplastic small round cell tumor	Drash syndrome	1	1	WT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	86
denys-drash syndrome	Desmoplastic small round cell tumor	1	1	WT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	86
Desmoplastic small round cell tumor	wilms tumor 1	1	1	WT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	86
Deuteranomaly	red-green color blindness	1	1	OPN1MW (3)	0.33333	1.00000	1.299e-4	3.898e-4	217
developmental and epileptic encephalopathy, 50	Hypoplastic anemia	1	1	CAD (2)	0.33333	1.00000	1.299e-4	3.898e-4	347
Developmental delay with dysmorphic facies and dental anomalies	Intellectual developmental disorder seizures extrapyramidal	1	1	SATB1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Developmental delay with language impairment and movement disorder	Intellectual developmental disorder language neurodegenerative	1	1	NR4A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	220
Developmental delay with short stature and dysmorphic facial features	developmental delay with short stature, dysmorphic facial features, and sparse hair	1	1	DPH1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Developmental delay with variable intellectual disability	developmental delay with variable intellectual impairment and behavioral abnormalities	1	1	TCF20 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Developmental delay with variable intellectual disability	developmental delay with variable intellectual disability and dysmorphic facies	1	1	JARID2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
diamond-blackfan anemia 6	Ovarian agenesis	1	1	RPL5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	240
diamond-blackfan anemia 6	Erythroid hypoplasia	1	1	RPL5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	240
Diaphyseal bone disorder	Peritoneal fibrosis	1	1	TGFB1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Diaphyseal bone disorder	inflammatory bowel disease, immunodeficiency, and encephalopathy	1	1	TGFB1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Diaphyseal bone disorder	diaphyseal medullary stenosis-bone malignancy syndrome	1	1	MTAP (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Diastolic heart failure	Growth retardation, developmental delay, and facial dysmorphism	1	1	FTO (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Diastolic heart failure	Growth retardation, developmental delay, coarse facies, and early death	1	1	FTO (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Dicer1 syndrome	Granulosa cell tumor of ovary	1	1	DICER1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	216
Dicer1 syndrome	Vertebral anomalies with endocrine and t-cell dysfunction	1	0	DICER1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	216
Dicer1 tumor-predisposition syndrome	Granulosa cell tumor of ovary	1	0	DICER1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	216
Dicer1 tumor-predisposition syndrome	Vertebral anomalies with endocrine and t-cell dysfunction	1	1	DICER1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	216
Dicer1-related tumor predisposition	Granulosa cell tumor of ovary	1	1	DICER1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	216
Dicer1-related tumor predisposition	Vertebral anomalies with endocrine and t-cell dysfunction	1	1	DICER1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	216
Diffuse nonepidermolytic palmoplantar keratoderma	Epidermolytic ichthyosis	1	1	KRT1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	187
Diffuse nonepidermolytic palmoplantar keratoderma	Epidermolytic hyperkeratosis	1	1	KRT1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	187
Diffuse palmoplantar keratoderma	Focal palmoplantar keratoderma with joint keratoses	1	1	DSG1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Digital clubbing, isolated congenital	Medullary carcinoma	1	1	HPGD (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Digital clubbing, isolated congenital	Primary hypertrophic osteoarthropathy	1	1	HPGD (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Dihydrolipoamide dehydrogenase deficiency	pyruvate dehydrogenase E3 deficiency	1	1	DLD (3)	0.33333	1.00000	1.299e-4	3.898e-4	429
Dihydrolipoamide dehydrogenase deficiency	methemoglobinemia due to deficiency of methemoglobin reductase	1	1	CYB5R3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	429
Dihydropyrimidinase deficiency	Dihydropyrimidine metabolism disorder	1	1	DPYS (5)	0.33333	1.00000	1.299e-4	3.898e-4	365
Dihydropyrimidine dehydrogenase deficiency	Dihydropyrimidine metabolism disorder	1	1	DPYD (6)	0.33333	1.00000	1.299e-4	3.898e-4	365
Dilatation of pulmonary artery	Right bundle branch block	1	0	BMPR2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Dilatation of pulmonary artery	Right cardiac ventricular dilatation	1	0	BMPR2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
dilated cardiomyopathy 1E	Ectopic rhythm	1	1	SCN5A (2)	0.33333	1.00000	1.299e-4	3.898e-4	140
dilated cardiomyopathy 1E	Paroxysmal ventricular fibrillation	1	1	SCN5A (2)	0.33333	1.00000	1.299e-4	3.898e-4	140
dilated cardiomyopathy 1EE	Keppen-lubinsky syndrome	1	1	MYH6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	328
dilated cardiomyopathy 1S	Ebstein anomaly	1	1	MYH7 (3)	0.33333	1.00000	1.299e-4	3.898e-4	104
dilated cardiomyopathy 1S	Parieto-occipital craniosynostosis	1	1	MYH7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	104
Distal amyotrophy	Distal myotilinopathy	1	1	MYOT (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Dkc1-related disorder	X-linked dyskeratosis congenita	1	1	DKC1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	393
Dna ligase iv deficiency	Dubowitz syndrome	1	1	LIG4 (4)	0.33333	1.00000	1.299e-4	3.898e-4	360
Dna ligase iv deficiency	Lig4 syndrome	1	1	LIG4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	360
Dna repair-deficiency disorders	microcephaly, seizures, and developmental delay	1	1	PNKP (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Dominant dystrophic epidermolysis bullosa with absence of skin	Dystrophic epidermolysis bullosa	1	1	COL7A1 (8)	0.33333	1.00000	1.299e-4	3.898e-4	252
Dominant dystrophic epidermolysis bullosa with absence of skin	Nail dystrophy	1	1	COL7A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	252
Dominant dystrophic epidermolysis bullosa with absence of skin	Hallopeau siemens disease	1	1	COL7A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	252
Dominant dystrophic epidermolysis bullosa, albopapular type	Dystrophic epidermolysis bullosa	1	1	COL7A1 (8)	0.33333	1.00000	1.299e-4	3.898e-4	252
Dominant dystrophic epidermolysis bullosa, albopapular type	Nail dystrophy	1	1	COL7A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	252
Dominant dystrophic epidermolysis bullosa, albopapular type	Hallopeau siemens disease	1	0	COL7A1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	252
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	hypercalcemia, infantile, 2	1	1	SLC34A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Dominant hypophosphatemia with nephrolithiasis or osteoporosis	hypercalcemia, infantile, 2	1	1	SLC34A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Donnai-barrow syndrome	methylmalonic aciduria and homocystinuria type cblF	1	1	LMBRD1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Doors syndrome	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	1	1	TBC1D24 (4)	0.33333	1.00000	1.299e-4	3.898e-4	105
Dorfman-chanarin disease	Neutral lipid storage disease with ichthyosis	1	1	ABHD5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Chuvash erythrocytosis	Pancreatic cyst	1	1	VHL (4)	0.33333	1.00000	1.299e-4	3.898e-4	403
Ciliary dyskinesia with retinitis pigmentosa	Cone dystrophy, x-linked	1	1	RPGR (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Ciliary dyskinesia with retinitis pigmentosa	Cone-rod dystrophy, x-linked	1	1	RPGR (5)	0.33333	1.00000	1.299e-4	3.898e-4	385
Ciliary dyskinesia with retinitis pigmentosa	X-linked cone-rod dystrophy	1	1	RPGR (4)	0.33333	1.00000	1.299e-4	3.898e-4	385
Ck syndrome	Perisylvian polymicrogyria	1	1	NSDHL (7)	0.33333	1.00000	1.299e-4	3.898e-4	398
classic homocystinuria	Cystathionine beta-synthase deficiency	1	1	CBS (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cleft face	Culler-jones syndrome	1	1	GLI2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	169
Cleft face	Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	1	1	GLI2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	169
Cleft face	familial meningioma	1	1	SMARCE1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	169
Clouston syndrome	Senter syndrome	1	1	GJB6 (4)	0.33333	1.00000	1.299e-4	3.898e-4	68
Coagulation factor deficiency syndrome	factor XIII, b subunit, deficiency of	1	1	F13B (2)	0.33333	1.00000	1.299e-4	3.898e-4	354
Coagulation factor deficiency syndrome	Congenital factor xi deficiency	1	1	F11 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Coagulation factor deficiency syndrome	Factor xi deficiency	1	1	F11 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Cobblestone lissencephaly	cobblestone lissencephaly without muscular or ocular involvement	1	1	LAMB1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	De sanctis-cacchione syndrome	1	1	ERCC6 (5)	0.33333	1.00000	1.299e-4	3.898e-4	352
COL1A1-related Ehlers-Danlos syndrome	Combined osteogenesis imperfecta and ehlers-danlos syndrome 	1	1	COL1A1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	93
COL1A1-related Ehlers-Danlos syndrome	Cortical congenital hyperostosis	1	1	COL1A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	93
COL1A2-related Ehlers-Danlos syndrome	Combined osteogenesis imperfecta and ehlers-danlos syndrome 	1	1	COL1A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
COL1A2-related osteogenesis imperfecta	Combined osteogenesis imperfecta and ehlers-danlos syndrome 	1	1	COL1A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
COL4A1-related disorder	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	1	1	COL4A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	33
Cerebral small vessel disease	COL4A1-related disorder	1	1	COL4A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	33
Colchicine resistance	Familial mediterranean fever	1	1	ABCB1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	120
Coloboma, cleft lip-palate and mental retardation syndrome	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	1	1	YAP1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	419
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Uveal coloboma-cleft lip and palate-intellectual disability	1	1	YAP1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	419
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Zunich neuroectodermal syndrome	1	1	PIGL (3)	0.33333	1.00000	1.299e-4	3.898e-4	419
Colonic disease	Growth hormone insensitivity, partial	1	1	GHR (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Colonic disease	Growth hormone insensitivity syndrome	1	0	GHR (1)	0.33333	1.00000	1.299e-4	3.898e-4	
colorectal cancer, hereditary nonpolyposis, type 7	Intestinal polyposis	1	1	MLH3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Colpocephaly	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	1	1	COL4A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	33
Cerebral small vessel disease	Colpocephaly	1	0	COL4A1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	33
Combined cellular and humoral immune defects with granulomas	recombinase activating gene 1 deficiency	1	1	RAG1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	176
Combined cellular and humoral immune defects with granulomas	recombinase activating gene 2 deficiency	1	1	RAG2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	176
Combined deficiency of factor v and factor viii	factor V and factor VIII, combined deficiency of, type 1	1	1	LMAN1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined deficiency of factor v and factor viii	factor 5 and Factor VIII, combined deficiency of, 2	1	1	MCFD2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined factor v and factor viii deficiency	factor V and factor VIII, combined deficiency of, type 1	1	1	LMAN1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined factor v and factor viii deficiency	factor 5 and Factor VIII, combined deficiency of, 2	1	1	MCFD2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	1	1	MTHFD1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined immunodeficiency with facio-oculo-skeletal anomalies	immunodeficiency 14b, autosomal recessive	1	1	PIK3CD (3)	0.33333	1.00000	1.299e-4	3.898e-4	375
Combined immunodeficiency with facio-oculo-skeletal anomalies	immunodeficiency 14	1	1	PIK3CD (3)	0.33333	1.00000	1.299e-4	3.898e-4	375
Combined immunodeficiency with skin granulomas	recombinase activating gene 1 deficiency	1	1	RAG1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	176
Combined immunodeficiency with skin granulomas	recombinase activating gene 2 deficiency	1	1	RAG2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	176
Combined immunodeficiency-multiple intestinal atresia	Multiple intestinal atresia	1	1	TTC7A (3)	0.33333	1.00000	1.299e-4	3.898e-4	269
Combined immunodeficiency, x-linked	X-linked severe combined immunodeficiency	1	1	IL2RG (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined immunodeficiency, x-linked	T-B+ severe combined immunodeficiency due to gamma chain deficiency	1	1	IL2RG (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined malonic and methylmalonic acidemia	Malonic aciduria	1	1	ACSF3 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined malonic and methylmalonic aciduria	Malonic aciduria	1	1	ACSF3 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined osteogenesis imperfecta and ehlers-danlos syndrome 	Maternal hypertension	1	1	COL1A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	93
Combined osteogenesis imperfecta and ehlers-danlos syndrome 	Rhizomelia	1	1	COL1A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	93
Combined osteogenesis imperfecta and ehlers-danlos syndrome 	ehlers-danlos syndrome, cardiac valvular type	1	1	COL1A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Combined psap deficiency	Combined saposin deficiency	1	1	PSAP (6)	0.33333	1.00000	1.299e-4	3.898e-4	114
Combined saposin deficiency	metachromatic leukodystrophy due to saposin B deficiency	1	1	PSAP (4)	0.33333	1.00000	1.299e-4	3.898e-4	114
Combined saposin deficiency	Gaucher disease due to saposin C deficiency	1	1	PSAP (4)	0.33333	1.00000	1.299e-4	3.898e-4	114
Combined saposin deficiency	Krabbe disease due to saposin A deficiency	1	1	PSAP (4)	0.33333	1.00000	1.299e-4	3.898e-4	114
Common arterial trunk with aortic dominance	Conotruncal anomaly face syndrome	1	1	TBX1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	290
Common arterial trunk with aortic dominance	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	1	1	GATA6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	290
Common arterial trunk with pulmonary dominance and interrupted aortic arch	Conotruncal anomaly face syndrome	1	1	TBX1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	290
Common arterial trunk with pulmonary dominance and interrupted aortic arch	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	1	1	GATA6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	290
Common atrium	Ebstein anomaly	1	0	CDK8 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Complex spastic paraplegia	De barsy syndrome	1	1	ALDH18A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Complex spastic paraplegia	P5CS deficiency	1	1	ALDH18A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Cone dystrophy, x-linked	red-green color blindness	1	1	OPN1MW (2)	0.33333	1.00000	1.299e-4	3.898e-4	217
Cone dystrophy, x-linked	Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness	1	1	RPGR (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Cone dystrophy, x-linked	RPGR-related retinopathy	1	1	RPGR (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cone monochromatism	red color blindness	1	1	OPN1LW (3)	0.33333	1.00000	1.299e-4	3.898e-4	217
Cone monochromatism	red-green color blindness	1	1	OPN1MW (3)	0.33333	1.00000	1.299e-4	3.898e-4	217
Cone rod dystrophy and hearing loss	cone-rod dystrophy and hearing loss 2	1	1	CEP250 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Cone-rod dystrophy, x-linked	Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness	1	1	RPGR (4)	0.33333	1.00000	1.299e-4	3.898e-4	385
Congenital amegakaryocytic thrombocytopenia	thrombocythemia 2	1	1	MPL (6)	0.33333	1.00000	1.299e-4	3.898e-4	98
Congenital amegakaryocytic thrombocytopenia	congenital amegakaryocytic thrombocytopenia 1	1	1	MPL (6)	0.33333	1.00000	1.299e-4	3.898e-4	98
Congenital amegakaryocytic thrombocytopenia	Thrombocythemia with distal limb defects	1	1	THPO (5)	0.33333	1.00000	1.299e-4	3.898e-4	98
Congenital amegakaryocytic thrombocytopenia	thrombocythemia 1	1	1	THPO (5)	0.33333	1.00000	1.299e-4	3.898e-4	98
Congenital aniridia	Denys drash syndrome	1	1	WT1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	86
Congenital aniridia	Drash syndrome	1	0	WT1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	86
Congenital aniridia	denys-drash syndrome	1	1	WT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	86
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Renal hypoplasia	1	1	PBX1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital aortic valve atresia	Intellectual developmental disorder seizures hypotonia skeletal	1	1	FOXP1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	267
Congenital asplenia	Interrupted aortic arch	1	1	NKX2-5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	166
Congenital asplenia	NKX2.5-related congenital, conduction and myopathic heart disease	1	1	NKX2-5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	166
Congenital aural atresia	Congenital external auditory canal atresia	1	1	TSHZ1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital aural atresia	Cutis gyrata syndrome	1	1	FGFR2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	38
Congenital camptodactyly	Developmental delay with facial dysmorphism syndrome	1	1	MED13L (2)	0.33333	1.00000	1.299e-4	3.898e-4	56
Congenital central hypothyroidism	Thyroid hormone resistance	1	1	TRHR (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital cleft hand	Congenital malformation syndromes predominantly involving limbs	1	0	DLX5 (1)	0.33333	1.00000	1.299e-4	3.898e-4	195
Congenital digestive system anomaly	Medullary carcinoma	1	1	RET (2)	0.33333	1.00000	1.299e-4	3.898e-4	161
Congenital ectodermal dysplasia of face	Focal facial dermal dysplasia	1	1	TWIST2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital epithelial dysplasia of intestine	Congenital tufting enteropathy	1	1	EPCAM (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige	Diffuse palmoplantar keratoderma	1	1	DSG1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital erythropoietic porphyria	Dyserythropoietic anemia with thrombocytopenia	1	1	GATA1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	132
Congenital erythropoietic porphyria	Thrombocytopenia with dyserythropoietic anemia	1	1	GATA1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	132
Congenital erythropoietic porphyria	Dyserythropoietic anemia with abnormal platelets and neutropenia	1	1	GATA1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	132
Congenital external auditory canal atresia	Congenital vertical talus	1	1	TSHZ1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital factor ii deficiency	Hemophilia b	1	1	F2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	408
Congenital factor v deficiency	Factor v deficiency	1	1	F5 (7)	0.33333	1.00000	1.299e-4	3.898e-4	84
11p partial monosomy syndrome	Congenital aniridia	1	0	WT1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	86
12q14 microdeletion syndrome	silver-russell syndrome 5	1	1	HMGA2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
12q14 microdeletion syndrome	Buschke-ollendorff syndrome	1	1	LEMD3 (5)	0.33333	1.00000	1.299e-4	3.898e-4	143
12q14 microdeletion syndrome	Dermatofibrosis lenticularis disseminata	1	1	LEMD3 (3)	0.33333	1.00000	1.299e-4	3.898e-4	143
12q14 microdeletion syndrome	Osteopoikilosis	1	1	LEMD3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	143
15q11q13 microduplication syndrome	Duplication 15q11-q13 syndrome	1	1	UBE3A (2)	0.33333	1.00000	1.299e-4	3.898e-4	
15q24 microdeletion	Cleft palate cardiac defects impaired intellectual development	1	1	MEIS2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
15q24 microdeletion	Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	1	1	MEIS2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
15q24 microdeletion	Chromosome 15q24 deletion syndrome	1	1	SIN3A (3)	0.33333	1.00000	1.299e-4	3.898e-4	362
15q24 microdeletion	SIN3A-related intellectual disability syndrome	1	1	SIN3A (3)	0.33333	1.00000	1.299e-4	3.898e-4	362
17,20-lyase deficiency	Hyperkalemia	1	1	CYP17A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
17p11.2 microduplication syndrome	obsolete Birt-Hogg-Dube syndrome	1	1	FLCN (2)	0.33333	1.00000	1.299e-4	3.898e-4	285
17p13.3 microduplication syndrome	Chromosome 17p13.3 microdeletion syndrome	1	1	YWHAE (2)	0.33333	1.00000	1.299e-4	3.898e-4	225
17q11 microdeletion syndrome	17q11.2 microduplication syndrome	1	1	NF1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	71
17q11 microdeletion syndrome	Cervical lymphadenopathy	1	1	NF1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	71
17q11 microdeletion syndrome	Watson syndrome	1	1	NF1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	71
17q11 microdeletion syndrome	neurofibromatosis type 1	1	1	NF1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	71
17q12 microdeletion syndrome	Bilateral multicystic dysplastic kidney	1	0	HNF1B (1)	0.33333	1.00000	1.299e-4	3.898e-4	145
17q12 microdeletion syndrome	Renal dysplasia	1	1	HNF1B (2)	0.33333	1.00000	1.299e-4	3.898e-4	145
17q12 microdeletion syndrome	Giant cell tumor of tendon sheath	1	1	HNF1B (2)	0.33333	1.00000	1.299e-4	3.898e-4	145
17q12 microdeletion syndrome	Multicystic dysplastic kidney	1	1	HNF1B (3)	0.33333	1.00000	1.299e-4	3.898e-4	145
17q21.31 microdeletion syndrome	Chromosome 17 deletion	1	1	KANSL1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
17q23.1q23.2 microdeletion syndrome	Patellar aplasia	1	1	TBX4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	27
17q24.2 microdeletion syndrome	Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome	1	1	BPTF (2)	0.33333	1.00000	1.299e-4	3.898e-4	
17q24.2 microdeletion syndrome	stankiewicz-isidor syndrome	1	1	PSMD12 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
1p21.3 microdeletion syndrome	Dihydropyrimidine metabolism disorder	1	1	DPYD (2)	0.33333	1.00000	1.299e-4	3.898e-4	365
2-aminoadipic 2-oxoadipic aciduria	Lysine metabolism disorder	1	1	DHTKD1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
2-aminoadipic 2-oxoadipic aciduria	Distal amyotrophy	1	1	DHTKD1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
2,4-dienoyl-coa reductase deficiency	progressive encephalopathy with leukodystrophy due to DECR deficiency	1	1	NADK2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
22q13 monosomy syndrome	Ventricular outflow obstruction	1	1	INS (2)	0.33333	1.00000	1.299e-4	3.898e-4	224
22q13 monosomy syndrome	phelan-mcdermid syndrome	1	1	SHANK3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	224
A4GALT-congenital disorder of glycosylation	Cortical congenital hyperostosis	1	1	A4GALT (2)	0.33333	1.00000	1.299e-4	3.898e-4	93
Aapoai amyloidosis	Amyloid polyneuropathy	1	1	APOA1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Aapoai amyloidosis	Apolipoprotein a-i deficiency	1	1	APOA1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	293
ABCA4-related retinopathy	Diastolic heart failure	1	1	ABCA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	150
ABCA4-related retinopathy	Retinopathy background	1	1	ABCA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	150
Ablepharon macrostomia syndrome	Focal facial dermal dysplasia	1	1	TWIST2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Aceruloplasminemia	Apoceruloplasmin deficiency	1	1	CP (3)	0.33333	1.00000	1.299e-4	3.898e-4	188
Acetyl-coa acetyltransferase deficiency	Cytosolic acetoacetyl-coa thiolase deficiency	1	1	ACAT2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Acetyl-coa acetyltransferase deficiency	Beta-ketothiolase deficiency	1	1	ACAT1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Acheiropody	Triphalangeal thumb-polysyndactyly syndrome	1	1	LMBR1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Acrocallosal syndrome	Tibial hemimelia	1	0	GLI3 (1)	0.33333	1.00000	1.299e-4	3.898e-4	192
Acrocallosal syndrome	Cronkhite-canada syndrome	1	0	GLI3 (1)	0.33333	1.00000	1.299e-4	3.898e-4	192
Acrocallosal syndrome	greig cephalopolysyndactyly syndrome	1	1	GLI3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	192
Acrodysostosis	Chromosome 5q12 deletion syndrome	1	1	PDE4D (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Acrodysostosis	Atrial myxoma	1	1	PRKAR1A (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Acrodysostosis	Carney complex, type 1	1	1	PRKAR1A (3)	0.33333	1.00000	1.299e-4	3.898e-4	
acrofacial dysostosis, weyers type	Curry-hall syndrome	1	1	EVC2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	233
Acromegaloid facial appearance syndrome	Cantu syndrome	1	1	ABCC9 (5)	0.33333	1.00000	1.299e-4	3.898e-4	234
Acromegaly	Chromosome xq26.3 duplication syndrome	1	1	GPR101 (3)	0.33333	1.00000	1.299e-4	3.898e-4	235
Acromegaly	X-linked acrogigantism due to xq26 microduplication	1	1	GPR101 (2)	0.33333	1.00000	1.299e-4	3.898e-4	235
Acroosteolysis	acroosteolysis dominant type	1	1	NOTCH2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Acroosteolysis	Myeloproliferative disease, unclassifiable	1	1	PDGFRB (2)	0.33333	1.00000	1.299e-4	3.898e-4	
acroosteolysis dominant type	Alagille syndrome	1	1	NOTCH2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
acroosteolysis dominant type	Follicular cyst	1	1	NOTCH2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
ACTB-associated syndromic thrombocytopenia	Baraitser-winter cerebrofrontofacial syndrome	1	1	ACTB (6)	0.33333	1.00000	1.299e-4	3.898e-4	115
Adrenocortical carcinoma	Central nervous system neoplasms	1	1	TP53 (2)	0.33333	1.00000	1.299e-4	3.898e-4	88
Adrenocortical carcinoma	Chromosome 17 deletion	1	1	TP53 (2)	0.33333	1.00000	1.299e-4	3.898e-4	88
Adrenocortical carcinoma	Vulvar lichen sclerosus	1	1	TP53 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Adrenoleukodystrophy	X-linked cerebral adrenoleukodystrophy	1	1	ABCD1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Agenesis of corpus callosum	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	1	1	CDH2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Alagille syndrome	Deafness with congenital heart defects and posterior embryotoxon	1	1	JAG1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	373
Alagille syndrome	Hepatic ductular hypoplasia	1	1	JAG1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	373
Aland island eye disease	Cone-rod dystrophy, x-linked	1	1	CACNA1F (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Aland island eye disease	X-linked cone-rod dystrophy	1	1	CACNA1F (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Aldosterone-producing adenoma	Brain compression	1	1	CACNA1D (2)	0.33333	1.00000	1.299e-4	3.898e-4	116
Alopecia universalis	Atrichia with papular lesions	1	1	HR (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Alopecia-intellectual disability syndrome	Amr syndrome	1	1	AHSG (2)	0.33333	1.00000	1.299e-4	3.898e-4	386
Alopecia-intellectual disability syndrome	Palmoplantar keratoderma and congenital alopecia	1	1	LSS (3)	0.33333	1.00000	1.299e-4	3.898e-4	386
Alopecia-intellectual disability syndrome	Cataract-alopecia-sclerodactyly syndrome	1	1	LSS (2)	0.33333	1.00000	1.299e-4	3.898e-4	386
Alpha thalassemia x-linked intellectual disability	Intellectual developmental disorder hypotonic x-linked	1	1	ATRX (4)	0.33333	1.00000	1.299e-4	3.898e-4	117
ALPL-related autosomal dominant hypophosphatasia	Childhood hypophosphatasia	1	1	ALPL (4)	0.33333	1.00000	1.299e-4	3.898e-4	388
ALPL-related autosomal recessive hypophosphatasia	Childhood hypophosphatasia	1	1	ALPL (4)	0.33333	1.00000	1.299e-4	3.898e-4	388
Alternating hemiplegia of childhood	fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	1	1	ATP1A2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Alternating hemiplegia of childhood	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	1	1	ATP1A2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Alternating hemiplegia of childhood	Capos syndrome	1	1	ATP1A3 (4)	0.33333	1.00000	1.299e-4	3.898e-4	196
Alternating hemiplegia of childhood	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	1	1	ATP1A3 (5)	0.33333	1.00000	1.299e-4	3.898e-4	196
Alternating hemiplegia of childhood	ATP1A3-associated neurological disorder	1	1	ATP1A3 (3)	0.33333	1.00000	1.299e-4	3.898e-4	196
Amegakaryocytic thrombocytopenia	thrombocythemia 2	1	1	MPL (3)	0.33333	1.00000	1.299e-4	3.898e-4	98
Amegakaryocytic thrombocytopenia	congenital amegakaryocytic thrombocytopenia 1	1	1	MPL (3)	0.33333	1.00000	1.299e-4	3.898e-4	98
Amegakaryocytic thrombocytopenia	Thrombocythemia with distal limb defects	1	1	THPO (4)	0.33333	1.00000	1.299e-4	3.898e-4	98
Amegakaryocytic thrombocytopenia	thrombocythemia 1	1	1	THPO (4)	0.33333	1.00000	1.299e-4	3.898e-4	98
Amelia	Patellar aplasia	1	1	TBX4 (3)	0.33333	1.00000	1.299e-4	3.898e-4	27
Ameloblastoma	Hairy cell leukemia	1	1	BRAF (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Ameloblastoma	Congenital hypothalamic hamartoma syndrome	1	1	SMO (2)	0.33333	1.00000	1.299e-4	3.898e-4	297
Ameloblastoma	Curry-jones syndrome	1	1	SMO (5)	0.33333	1.00000	1.299e-4	3.898e-4	297
Ameloblastoma	Winter shortland temple syndrome	1	1	SMO (2)	0.33333	1.00000	1.299e-4	3.898e-4	297
Ameloblastoma	mosaic SMO syndrome	1	1	SMO (2)	0.33333	1.00000	1.299e-4	3.898e-4	297
Aminoglycoside-induced deafness	Infantile liver failure	1	1	TRMU (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Amish infantile epilepsy syndrome	spinocerebellar ataxia type 2	1	1	ATXN2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Amish infantile epilepsy syndrome	Salt and pepper developmental regression syndrome	1	1	ST3GAL5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Amish infantile epilepsy syndrome	GM3 synthase deficiency	1	1	ST3GAL5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Amish lethal microcephaly	Thiamine metabolism dysfunction syndrome	1	1	SLC25A19 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Amyloid polyneuropathy	Apolipoprotein a-i amyloidosis	1	0	APOA1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Amyloid polyneuropathy	Dystransthyretinemic euthyroidal hyperthyroxinemia	1	1	TTR (2)	0.33333	1.00000	1.299e-4	3.898e-4	185
Amyloid polyneuropathy	Senile systemic amyloidosis	1	0	TTR (1)	0.33333	1.00000	1.299e-4	3.898e-4	185
Amyloid polyneuropathy	Transthyretin amyloid cardiomyopathy	1	0	TTR (1)	0.33333	1.00000	1.299e-4	3.898e-4	185
amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	Welander distal myopathy	1	1	TIA1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
amyotrophic lateral sclerosis type 10	Masp2 deficiency	1	1	TARDBP (2)	0.33333	1.00000	1.299e-4	3.898e-4	
amyotrophic lateral sclerosis type 11	Yunis-varon syndrome	1	1	FIG4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	311
amyotrophic lateral sclerosis type 19	Soft tissue neoplasms	1	1	ERBB4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	312
Anaplastic astrocytoma	Hairy cell leukemia	1	1	BRAF (2)	0.33333	1.00000	1.299e-4	3.898e-4	200
Anaplastic astrocytoma	Anaplastic oligoastrocytoma	1	0	IDH2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	200
Anaplastic astrocytoma	Gemistocytic astrocytoma	1	0	IDH2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	200
Anaplastic oligoastrocytoma	Anaplastic oligodendroglioma	1	0	IDH2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	200
Anaplastic oligodendroglioma	Gemistocytic astrocytoma	1	0	IDH2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	200
Anaplastic oligodendroglioma	Congenital chromosomal disease	1	1	POT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Anaplastic oligodendroglioma	tumor predisposition syndrome 3	1	1	POT1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Anaptoglobinemia	Wilson disease	1	1	ATP7B (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Andersen-tawil syndrome	familial hyperaldosteronism type III	1	1	KCNJ5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Androgen insensitivity syndrome	Bulbo-spinal atrophy, x-linked	1	1	AR (7)	0.33333	1.00000	1.299e-4	3.898e-4	204
Androgen insensitivity syndrome	Partial androgen insensitivity syndrome	1	1	AR (7)	0.33333	1.00000	1.299e-4	3.898e-4	204
Androgen insensitivity syndrome	Kennedy disease	1	1	AR (8)	0.33333	1.00000	1.299e-4	3.898e-4	204
Androgen insensitivity syndrome	meier-gorlin syndrome 7	1	1	CDC45 (2)	0.33333	1.00000	1.299e-4	3.898e-4	204
anemia, nonspherocytic hemolytic, due to G6PD deficiency	Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	1	1	G6PD (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
anemia, nonspherocytic hemolytic, due to G6PD deficiency	Autoinflammatory disease, systemic, x-linked	1	1	G6PD (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
anemia, nonspherocytic hemolytic, due to G6PD deficiency	Bloch sulzberger syndrome	1	1	G6PD (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
Anemia, x-linked	Congenital erythropoietic porphyria	1	1	GATA1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	132
Anhidrotic ectodermal dysplasia	X-linked hypohidrotic ectodermal dysplasia	1	1	EDA (2)	0.33333	1.00000	1.299e-4	3.898e-4	76
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	G6PD deficiency	1	1	G6PD (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
Aniridia-cerebellar ataxia-intellectual disability syndrome	Bilateral congenital mydriasis	1	1	ITPR1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Aniridia-cerebellar ataxia-intellectual disability syndrome	spinocerebellar ataxia type 29	1	1	ITPR1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Aniridia-cerebellar ataxia-intellectual disability syndrome	Cataract-corneal dystrophy syndrome	1	1	PAX6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Aniridia-cerebellar ataxia-intellectual disability syndrome	PAX6-related ocular dysgenesis	1	1	PAX6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Anisometropia	PTEN hamartoma tumor syndrome	1	1	PTEN (3)	0.33333	1.00000	1.299e-4	3.898e-4	317
Anisometropia	Trichiasis	1	0	MCM7 (1)	0.33333	1.00000	1.299e-4	3.898e-4	317
Ankylosis	Congenital aural atresia	1	1	FGFR2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	38
Ankylosis	Crouzon syndrome	1	1	FGFR2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	38
Annular epidermolytic ichthyosis	Diffuse nonepidermolytic palmoplantar keratoderma	1	1	KRT1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	187
Annular epidermolytic ichthyosis	Keratosis of greither	1	1	KRT1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	187
anterior segment dysgenesis 4	Ataxia with deafness and vision loss	1	1	PITX2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
anterior segment dysgenesis 4	Axenfeld anomaly	1	1	PITX2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	82
anterior segment dysgenesis 4	Iridogoniodysgenesis	1	1	PITX2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	82
anterior segment dysgenesis 7	Congenital cataract microcornea with corneal opacity	1	1	PXDN (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Aortic atherosclerosis	idiopathic multidrug-resistant nephrotic syndrome	1	1	DAAM2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital factor xiii deficiency	factor XIII, A subunit, deficiency of	1	1	F13A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	354
Congenital factor xiii deficiency	factor XIII, b subunit, deficiency of	1	1	F13B (3)	0.33333	1.00000	1.299e-4	3.898e-4	354
Congenital folate absorption defect	Hereditary folate malabsorption	1	1	SLC46A1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	428
Congenital glucose-galactose malabsorption	Renal glycosuria	1	1	SLC5A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
congenital heart defects, multiple types, 2	Stress urinary incontinence	1	1	TAB2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Perisylvian polymicrogyria	1	1	NSDHL (3)	0.33333	1.00000	1.299e-4	3.898e-4	398
Congenital hernia of foramen of bochdalek	Visual system disorder	1	1	EFEMP1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	152
Congenital hypoplasia of aortic arch	Cystathionine beta-synthase deficiency	1	0	PKHD1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	74
Congenital hypoplasia of femur	joubert syndrome 1	1	1	INPP5E (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital hypoplasia of femur	MORM syndrome	1	1	INPP5E (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital hypoplastic anemia	developmental and epileptic encephalopathy, 50	1	1	CAD (2)	0.33333	1.00000	1.299e-4	3.898e-4	347
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Elsahy-waters syndrome	1	1	ELOVL4 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital idiopathic intestinal pseudoobstruction	Congenital short bowel syndrome	1	1	FLNA (2)	0.33333	1.00000	1.299e-4	3.898e-4	42
Congenital isolated growth hormone deficiency	Isolated somatotropin deficiency	1	1	GH1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital keratoglobus	Microspherophakia	1	1	LTBP2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital keratoglobus	glaucoma 3, primary congenital, d	1	1	LTBP2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital leukocyte adherence deficiency	leukocyte adhesion deficiency 3	1	1	FERMT3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	142
Congenital lipoid adrenal hyperplasia	Toe syndactyly-telecanthus-anogenital and renal malformations syndrome	1	1	STAR (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital malformation syndromes predominantly involving limbs	Waardenburg anophthalmia syndrome	1	0	SMOC1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	195
Congenital mesoblastic nephroma	thrombocytopenia 5	1	1	ETV6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital methemoglobinemia	Dihydrolipoamide dehydrogenase deficiency	1	0	CYB5R3 (1)	0.33333	1.00000	1.299e-4	3.898e-4	429
Congenital mitral valve atresia	Intellectual developmental disorder seizures hypotonia skeletal	1	1	FOXP1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	267
Cenani-lenz syndrome	congenital myasthenic syndrome 17	1	1	LRP4 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
congenital myasthenic syndrome 17	Sclerosteosis	1	1	LRP4 (8)	0.33333	1.00000	1.299e-4	3.898e-4	344
Congenital neck anomaly	Nebulin-related myopathy	1	1	NEB (3)	0.33333	1.00000	1.299e-4	3.898e-4	333
Congenital neck anomaly	Distal nebulin myopathy	1	0	NEB (1)	0.33333	1.00000	1.299e-4	3.898e-4	333
Congenital neck anomaly	nemaline myopathy 2	1	1	NEB (2)	0.33333	1.00000	1.299e-4	3.898e-4	333
Congenital nervous system disorder	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	1	1	UNC13A (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital nervous system disorder	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	1	1	UNC13A (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital pectus carinatum	Congenital scoliosis	1	0	FBN1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	28
Congenital pectus carinatum	Crst syndrome	1	0	FBN1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	28
Congenital pectus carinatum	Dilatation of pulmonary artery	1	0	FBN1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	28
Congenital porencephaly	Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	1	1	COL4A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	33
Congenital prothrombin deficiency	Hemophilia b	1	1	F2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	408
Congenital pulmonary valve atresia	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	1	GATA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	106
Congenital pulmonary valve atresia	Partial atrioventricular canal defect	1	1	GATA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	106
Congenital radioulnar synostosis	SMAD6-related disease	1	1	SMAD6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Congenital reticular ichthyosiform erythroderma	Diffuse nonepidermolytic palmoplantar keratoderma	1	1	KRT1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	187
Congenital reticular ichthyosiform erythroderma	Keratosis of greither	1	1	KRT1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	187
Congenital scoliosis	Coronary artery dissection	1	0	FBN1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	28
Congenital short bowel syndrome	Otopalatodigital spectrum disorder	1	1	FLNA (2)	0.33333	1.00000	1.299e-4	3.898e-4	42
Congenital short bowel syndrome	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.33333	1.00000	1.299e-4	3.898e-4	42
Congenital short bowel syndrome	X-linked ehlers-danlos syndrome	1	1	FLNA (3)	0.33333	1.00000	1.299e-4	3.898e-4	42
Congenital short bowel syndrome	X-linked keloid scarring syndrome	1	1	FLNA (2)	0.33333	1.00000	1.299e-4	3.898e-4	42
Congenital sodium diarrhea	Duodenal atresia	1	1	GUCY2C (2)	0.33333	1.00000	1.299e-4	3.898e-4	275
Congenital thrombotic thrombocytopenic purpura	hereditary thrombophilia due to congenital protein C deficiency	1	1	PROC (3)	0.33333	1.00000	1.299e-4	3.898e-4	325
Congenital thrombotic thrombocytopenic purpura	Upshaw-schulman syndrome	1	1	ADAMTS13 (4)	0.33333	1.00000	1.299e-4	3.898e-4	325
Congenital vertical talus	Vertical talus	1	1	HOXD10 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Conjunctivitis	Developmental delay with autism spectrum disorder	1	1	HERC2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	246
Conjunctivitis	hypoplasminogenemia	1	1	PLG (2)	0.33333	1.00000	1.299e-4	3.898e-4	246
Contiguous abcd1-dxs1375e deletion syndrome	Deafness, dystonia, and cerebral hypomyelination	1	1	BCAP31 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Continuous spike and wave during sleep syndrome	Continuous spike and wave during slow wave sleep syndrome	1	1	GRIN2A (2)	0.33333	1.00000	1.299e-4	3.898e-4	389
Continuous spike and wave during slow wave sleep syndrome	Focal epilepsy with speech disorder and impaired intellectual development	1	1	GRIN2A (3)	0.33333	1.00000	1.299e-4	3.898e-4	389
Coq7-related distal hereditary motor neuropathy	Primary coenzyme q10 deficiency	1	1	COQ7 (4)	0.33333	1.00000	1.299e-4	3.898e-4	399
Coronary artery dissection	Crst syndrome	1	0	FBN1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	28
Coronary artery dissection	Dilatation of pulmonary artery	1	0	FBN1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	28
Corpus callosum agenesis with abnormal genitalia	Lissencephaly, x-linked	1	1	ARX (5)	0.33333	1.00000	1.299e-4	3.898e-4	255
Corpus callosum agenesis with facial anomalies and robin sequence	Toriello-carey syndrome	1	1	DDX3X (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Cortical congenital hyperostosis	Maternal hypertension	1	0	COL1A1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	93
Cortical congenital hyperostosis	Rhizomelia	1	0	COL1A1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	93
Cowchock syndrome	X-linked hereditary sensory and autonomic neuropathy with deafness	1	1	AIFM1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	367
Cowchock syndrome	X-linked hereditary sensory and autonomic neuropathy with hearing loss	1	1	AIFM1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	367
Coxopodopatellar syndrome	Patellar aplasia	1	1	TBX4 (3)	0.33333	1.00000	1.299e-4	3.898e-4	27
Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome	developmental delay with short stature, dysmorphic facial features, and sparse hair	1	1	DPH1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Craniofaciocardiohepatic syndrome	Tethered cord syndrome	1	1	AMOTL1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	200
Craniofaciosynostosis	Osteoglophonic dwarfism	1	1	FGFR1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	139
Craniofaciosynostosis	Osteoglophonic dysplasia	1	1	FGFR1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	139
Craniofaciosynostosis	Pfeiffer syndrome type 1	1	1	FGFR1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	139
Craniofaciosynostosis	Hartsfield-Bixler-Demyer syndrome	1	1	FGFR1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	139
Cranioosteoarthropathy	Medullary carcinoma	1	1	HPGD (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Cranioosteoarthropathy	Primary hypertrophic osteoarthropathy	1	1	HPGD (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Craniopharyngioma	Hairy cell leukemia	1	1	BRAF (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Craniopharyngioma	Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	1	1	CTNNB1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	81
Craniopharyngioma	CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	1	1	CTNNB1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	81
craniosynostosis 2	Parietal foramina	1	1	MSX2 (7)	0.33333	1.00000	1.299e-4	3.898e-4	108
craniosynostosis 4	Crouzon syndrome	1	1	ERF (3)	0.33333	1.00000	1.299e-4	3.898e-4	38
craniosynostosis 4	Parieto-occipital craniosynostosis	1	1	ERF (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Creatine deficiency	Guanidinoacetate methyltransferase deficiency	1	1	GAMT (3)	0.33333	1.00000	1.299e-4	3.898e-4	380
Creatine deficiency	Creatine transporter deficiency	1	1	SLC6A8 (4)	0.33333	1.00000	1.299e-4	3.898e-4	380
Creatine deficiency	X-linked creatine transporter deficiency	1	1	SLC6A8 (3)	0.33333	1.00000	1.299e-4	3.898e-4	380
Cri-du-chat syndrome	dyskeratosis congenita, autosomal dominant 2	1	1	TERT (3)	0.33333	1.00000	1.299e-4	3.898e-4	1
Cronkhite-canada syndrome	Pilosebaceous disorder	1	1	GLI3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	192
Crouzon syndrome	Cutis gyrata syndrome	1	1	FGFR2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	38
Cryohydrocytosis	Glucose transporter type 1 deficiency syndrome	1	1	SLC2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	99
Cryohydrocytosis	Epilepsy with myoclonic absence	1	1	SLC2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	99
Cryohydrocytosis	GLUT1 deficiency syndrome	1	1	SLC2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	99
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Osteopathia striata with cranial sclerosis	1	1	CTNNB1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	81
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Vascular calcification	1	1	CTNNB1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	81
Cardiac rhythm disease	dilated cardiomyopathy 1E	1	1	SCN5A (2)	0.33333	1.00000	1.299e-4	3.898e-4	140
Cardiac rhythm disease	SCN5A-related cardiac rhythm disorder	1	1	SCN5A (2)	0.33333	1.00000	1.299e-4	3.898e-4	140
Aphasia	Cardiac tamponade	1	1	PLAT (2)	0.33333	1.00000	1.299e-4	3.898e-4	29
Cardiac tamponade	Postictal aphasia	1	1	PLAT (2)	0.33333	1.00000	1.299e-4	3.898e-4	29
Cardiac tamponade	Cholesterol embolism	1	1	PLAT (2)	0.33333	1.00000	1.299e-4	3.898e-4	29
Cardiac tamponade	Commisural aphasia	1	1	PLAT (2)	0.33333	1.00000	1.299e-4	3.898e-4	29
Cardiac tamponade	Dejerine-lichtheim phenomenon	1	1	PLAT (2)	0.33333	1.00000	1.299e-4	3.898e-4	29
Cardiac, facial, and digital anomalies with developmental delay	Cleft palate cardiac defects impaired intellectual development	1	1	MEIS2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Cardiac, facial, and digital anomalies with developmental delay	Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	1	1	MEIS2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Carey-fineman-ziter syndrome	obsolete Carey-Fineman-Ziter syndrome	1	1	MYMK (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Carnitine acetyltransferase deficiency	carnitine-acylcarnitine translocase deficiency	1	1	SLC25A20 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Carvajal syndrome	Lethal acantholytic epidermolysis bullosa	1	1	DSP (3)	0.33333	1.00000	1.299e-4	3.898e-4	206
Carvajal syndrome	Ventricular arrhythmia	1	1	DSP (2)	0.33333	1.00000	1.299e-4	3.898e-4	206
Cataplexy	Ophthalmoplegia	1	0	NPC1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	231
cataract 50 with or without glaucoma	Cataract-glaucoma syndrome	1	1	TRPM3 (3)	0.33333	1.00000	1.299e-4	3.898e-4	122
Cataract-corneal dystrophy syndrome	Congenital aniridia	1	1	PAX6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cataract-corneal dystrophy syndrome	Optic nerve disorder	1	0	PAX6 (1)	0.33333	1.00000	1.299e-4	3.898e-4	25
Cataract-corneal dystrophy syndrome	Gillespie syndrome	1	0	PAX6 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Cataract-glaucoma syndrome	Congenital cataract anterior segment dysgenesis syndrome	1	1	PITX3 (3)	0.33333	1.00000	1.299e-4	3.898e-4	122
Catel-manzke syndrome	vertebral, cardiac, renal, and limb defects syndrome 2	1	1	KYNU (2)	0.33333	1.00000	1.299e-4	3.898e-4	421
Caudate atrophy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	1	1	TYROBP (5)	0.33333	1.00000	1.299e-4	3.898e-4	348
Cavitary optic disc anomalies	Cavitary optic disk anomaly	1	1	MMP19 (5)	0.33333	1.00000	1.299e-4	3.898e-4	125
Cavitary optic disk anomaly	Dysbetalipoproteinemia	1	1	APOE (2)	0.33333	1.00000	1.299e-4	3.898e-4	125
Cayler cardiofacial syndrome	Otofaciocervical syndrome	1	1	EYA1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	134
cenani-lenz syndactyly syndrome	Cenani-lenz syndrome	1	1	LRP4 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
cenani-lenz syndactyly syndrome	Sclerosteosis	1	1	LRP4 (8)	0.33333	1.00000	1.299e-4	3.898e-4	344
Cenani-lenz syndrome	Familial adenomatous polyposis	1	1	APC (3)	0.33333	1.00000	1.299e-4	3.898e-4	37
Cenani-lenz syndrome	gastric adenocarcinoma and proximal polyposis of the stomach	1	1	APC (3)	0.33333	1.00000	1.299e-4	3.898e-4	37
Cenani-lenz syndrome	classic or attenuated familial adenomatous polyposis	1	1	APC (3)	0.33333	1.00000	1.299e-4	3.898e-4	37
Central nervous system neoplasms	Choroid plexus carcinoma	1	1	TP53 (3)	0.33333	1.00000	1.299e-4	3.898e-4	88
Central nervous system neoplasms	Choroid plexus papilloma	1	1	TP53 (3)	0.33333	1.00000	1.299e-4	3.898e-4	88
Central nervous system neoplasms	Mucoepidermoid carcinoma	1	0	BAP1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Central retinal vein occlusion	Congenital thrombotic thrombocytopenic purpura	1	1	PROC (2)	0.33333	1.00000	1.299e-4	3.898e-4	325
Ataxia-hypogonadism-choroidal dystrophy syndrome	Cerebellar ataxia and hypogonadotropic hypogonadism	1	1	PNPLA6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	121
Boucher-neuhauser syndrome	Cerebellar ataxia and hypogonadotropic hypogonadism	1	1	PNPLA6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	121
Cerebellar ataxia and hypogonadotropic hypogonadism	Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	1	1	PNPLA6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	121
Cerebellar ataxia and hypogonadotropic hypogonadism	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	121
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia	Cerebellar ataxia, neuropathy, and vestibular areflexia	1	1	RFC1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	243
Ataxia-hypogonadism-choroidal dystrophy syndrome	Cerebellar ataxia-hypogonadism	1	1	PNPLA6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	121
Boucher-neuhauser syndrome	Cerebellar ataxia-hypogonadism	1	1	PNPLA6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	121
Cerebellar ataxia-hypogonadism	Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	1	1	PNPLA6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	121
Cerebellar ataxia-hypogonadism	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (3)	0.33333	1.00000	1.299e-4	3.898e-4	121
Cerebellar malformation	Rhyns syndrome	1	1	TMEM67 (4)	0.33333	1.00000	1.299e-4	3.898e-4	315
Cerebellar, ocular, craniofacial, and genital syndrome	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	1	1	MAB21L1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Cerebelloparenchymal disorder	Normal pressure hydrocephalus	1	1	PMPCA (2)	0.33333	1.00000	1.299e-4	3.898e-4	158
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Myofibromatosis	1	1	NOTCH3 (4)	0.33333	1.00000	1.299e-4	3.898e-4	374
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Myofibromatosis	1	1	NOTCH3 (4)	0.33333	1.00000	1.299e-4	3.898e-4	374
cerebral cavernous malformation 2	Congenital cerebral aneurysm	1	1	CCM2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	249
cerebral cavernous malformation 2	Congenital malformation of cerebral vessels	1	1	CCM2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	249
Cerebral folate deficiency	neurodegenerative syndrome due to cerebral folate transport deficiency	1	1	FOLR1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cerebral small vessel disease	Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	1	1	COL4A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	33
Cerebrofacioarticular syndrome	FAT4-related neurodevelopmental disorder	1	1	FAT4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
cerebroretinal microangiopathy with calcifications and cysts 1	Coats plus syndrome	1	1	CTC1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	138
cerebroretinal microangiopathy with calcifications and cysts 2	Coats plus syndrome	1	1	STN1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	138
Cerebrotendinous xanthomatosis	Xanthomatosis	1	1	CYP27A1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Cervical dysplasia	Microvascular angina	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Cervical dysplasia	homocystinuria due to methylene tetrahydrofolate reductase deficiency	1	1	MTHFR (2)	0.33333	1.00000	1.299e-4	3.898e-4	60
Charcot-Marie-Tooth disease type 2A2	Nail dystrophy	1	1	MFN2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Charcot-Marie-Tooth disease X-linked dominant 1	X-linked progressive cerebellar ataxia	1	1	GJB1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	422
CHEK2-related cancer predisposition	Osteogenic sarcoma	1	1	CHEK2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Childhood hypophosphatasia	Hypophosphatasia	1	1	ALPL (5)	0.33333	1.00000	1.299e-4	3.898e-4	388
Childhood hypophosphatasia	Micromelia	1	1	ALPL (3)	0.33333	1.00000	1.299e-4	3.898e-4	388
Childhood kidney wilms tumor	CTR9-related neurodevelopmental disorder	1	1	CTR9 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Childhood-onset basal ganglia degeneration syndrome	Yunis-varon syndrome	1	1	VAC14 (3)	0.33333	1.00000	1.299e-4	3.898e-4	311
Childhood-onset glut1 deficiency syndrome 2	Chromosome 17q23.1-q23.2 deletion syndrome	1	1	SLC2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Childhood-onset glut1 deficiency syndrome 2	Glucose transporter type 1 deficiency syndrome	1	1	SLC2A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Childhood-onset glut1 deficiency syndrome 2	Epilepsy with myoclonic absence	1	1	SLC2A1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Childhood-onset spinal muscular atrophy	Hereditary axonal motor and sensory neuropathy	1	1	BICD2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cholestanol storage disease	Xanthomatosis	1	1	CYP27A1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Cholesterol embolism	quebec platelet disorder	1	1	PLAU (2)	0.33333	1.00000	1.299e-4	3.898e-4	29
Chondromyxoid fibroma	Congenital cerebellar ataxia	1	0	GRM1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Choreatic disease	Dyskinesia with orofacial involvement	1	1	ADCY5 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Choreatic disease	Dyskinesia, familial, with facial myokymia	1	1	ADCY5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Choreatic disease	NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	1	1	NKX2-1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Choroid diseases	Panuveitis	1	0	IL10 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Choroid plexus carcinoma	Chromosome 17 deletion	1	1	TP53 (3)	0.33333	1.00000	1.299e-4	3.898e-4	88
Choroid plexus carcinoma	Vulvar lichen sclerosus	1	1	TP53 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Choroid plexus papilloma	Chromosome 17 deletion	1	1	TP53 (3)	0.33333	1.00000	1.299e-4	3.898e-4	88
Choroid plexus papilloma	Vulvar lichen sclerosus	1	1	TP53 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Choroidal dystrophy	PRPH2-related retinopathy	1	1	PRPH2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	69
Choroidal dystrophy	GUCY2D-related dominant retinopathy	1	1	GUCY2D (4)	0.33333	1.00000	1.299e-4	3.898e-4	69
Choroidal dystrophy	GUCY2D-related recessive retinopathy	1	1	GUCY2D (4)	0.33333	1.00000	1.299e-4	3.898e-4	69
Choroidal sclerosis	PRPH2-related retinopathy	1	1	PRPH2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	69
Choroidal sclerosis	GUCY2D-related dominant retinopathy	1	1	GUCY2D (3)	0.33333	1.00000	1.299e-4	3.898e-4	69
Choroidal sclerosis	GUCY2D-related recessive retinopathy	1	1	GUCY2D (3)	0.33333	1.00000	1.299e-4	3.898e-4	69
Chromodomain helicase dna binding protein 8 overgrowth syndrome	Intellectual developmental disorder autism dysmorphic	1	1	CHD8 (4)	0.33333	1.00000	1.299e-4	3.898e-4	280
Chromophobe renal cell carcinoma	Hepatic adenoma	1	1	HNF1A (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Chromophobe renal cell carcinoma	Insulin resistant diabetes mellitus	1	1	HNF1A (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Chromosome 15q24 deletion syndrome	Witteveen-kolk syndrome	1	1	SIN3A (4)	0.33333	1.00000	1.299e-4	3.898e-4	362
Chromosome 16p11.2 deletion syndrome	interstitial lung disease 1	1	1	SFTPA1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Chromosome 16p11.2 deletion syndrome	Chromosome 16p11.2 microdeletion syndrome	1	1	SH2B1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Chromosome 17 deletion	koolen-de vries syndrome	1	1	KANSL1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Chromosome 17q23.1-q23.2 deletion syndrome	Cryohydrocytosis	1	1	SLC2A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	99
Chromosome 17q23.1-q23.2 duplication syndrome	Patellar aplasia	1	0	TBX4 (1)	0.33333	1.00000	1.299e-4	3.898e-4	27
Chromosome 1q21.1 deletion syndrome	Congenital sclerocornea	1	1	GJA8 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Chromosome 22q11.2 microduplication syndrome	Common arterial trunk with aortic dominance	1	1	TBX1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	290
Chromosome 22q11.2 microduplication syndrome	Common arterial trunk with pulmonary dominance and interrupted aortic arch	1	1	TBX1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	290
Chromosome 2q32-q33 deletion syndrome	Glass syndrome	1	1	SATB2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	197
Chromosome 2q32-q33 deletion syndrome	Satb2 associated syndrome	1	1	SATB2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	197
Chromosome 2q32-q33 deletion syndrome	SATB2 associated disorder	1	1	SATB2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	197
Chromosome 6q24-q25 deletion syndrome	Stress urinary incontinence	1	0	TAB2 (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Chromosome 8p23.1 monosomy	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	1	GATA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	106
Chromosome 8p23.1 monosomy	Partial atrioventricular canal defect	1	1	GATA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	106
Chromosome xq27.3-q28 duplication syndrome	Xq27.3 q28 duplication syndrome	1	1	FMR1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity	Congenital sodium diarrhea	1	1	GUCY2C (2)	0.33333	1.00000	1.299e-4	3.898e-4	275
Chronic progressive external ophthalmoplegia	Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	1	1	RRM2B (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Apoceruloplasmin deficiency	Hemosiderosis	1	1	CP (2)	0.33333	1.00000	1.299e-4	3.898e-4	188
Apoceruloplasmin deficiency	hemochromatosis type 4	1	1	SLC40A1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	188
Apolipoprotein a-i amyloidosis	Apolipoprotein a-i deficiency	1	1	APOA1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	293
Arboleda-tham syndrome	Intellectual disability with craniofacial anomalies and cardiac defects	1	1	KAT6A (4)	0.33333	1.00000	1.299e-4	3.898e-4	286
Arhinia-choanal atresia-microphthalmia syndrome	Chediak-higashi syndrome	1	1	SMCHD1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	324
arhinia, choanal atresia, and microphthalmia	Chediak-higashi syndrome	1	1	SMCHD1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	324
arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Lethal acantholytic epidermolysis bullosa	1	1	DSP (3)	0.33333	1.00000	1.299e-4	3.898e-4	206
arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Ventricular arrhythmia	1	1	DSP (2)	0.33333	1.00000	1.299e-4	3.898e-4	206
Arthralgia	Hyper-igd syndrome	1	1	MVK (2)	0.33333	1.00000	1.299e-4	3.898e-4	327
Arthralgia	Bone marrow neoplasms	1	0	CSF3 (1)	0.33333	1.00000	1.299e-4	3.898e-4	327
Arts syndrome	Ataxia with deafness and vision loss	1	1	PRPS1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	253
asphyxiating thoracic dystrophy 3	Bowed long bones	1	1	DYNC2H1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	56
Asplenia	Congenital asplenia	1	1	RPSA (5)	0.33333	1.00000	1.299e-4	3.898e-4	166
Asplenia	Splenic hypoplasia	1	1	RPSA (3)	0.33333	1.00000	1.299e-4	3.898e-4	166
Asymmetric crying face association	Branchiooculofacial syndrome	1	0	EYA1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	134
Asymmetric crying face association	Branchiootic syndrome	1	1	EYA1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	134
Asymmetric crying face association	Otofaciocervical syndrome	1	1	EYA1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	134
Ataxia with deafness and vision loss	Ring dermoid of cornea	1	1	PITX2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Ataxia with deafness and vision loss	Prpp synthetase superactivity	1	1	PRPS1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	253
Ataxia with deafness and vision loss	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	1	0	PRPS1 (1)	0.33333	1.00000	1.299e-4	3.898e-4	253
Ataxia with intention tremor and hypotonia	Cervical dysplasia	1	1	POU4F1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	60
Ataxia with intention tremor and hypotonia	Uterine disease	1	1	POU4F1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	60
Ataxia with polyneuropathy	Periodic paralysis	1	0	ATP6 (1)	0.33333	1.00000	1.299e-4	3.898e-4	105
Ataxia-pancytopenia syndrome	Spectrum and myeloid neoplasm risk	1	1	SAMD9L (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Ataxia, spastic, autosomal recessive	Spastic ataxia with leukoencephalopathy	1	1	MARS2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Ateleiotic dwarfism	Congenital isolated growth hormone deficiency	1	1	GH1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Atelosteogenesis	De la chapelle dysplasia	1	1	SLC26A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	190
Atelosteogenesis	Diastrophic dysplasia	1	1	SLC26A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	190
Atelosteogenesis	Diastrophic dysplasia, broad bone-platyspondylic variant	1	1	SLC26A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	190
Atelosteogenesis	Ear disease	1	1	SLC26A2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	190
Atelosteogenesis	SLC26A2-related skeletal dysplasia	1	1	SLC26A2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	190
Atr-x syndrome	Intellectual developmental disorder hypotonic x-linked	1	1	ATRX (7)	0.33333	1.00000	1.299e-4	3.898e-4	117
ATR-X-related syndrome	Intellectual developmental disorder hypotonic x-linked	1	1	ATRX (5)	0.33333	1.00000	1.299e-4	3.898e-4	117
Atrioventricular excitation abnormality	PRKAG2-related cardiomyopathy	1	1	PRKAG2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	328
Atrioventricular excitation abnormality	MYH-6 related congenital heart defects	1	1	MYH6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	328
Atrioventricular excitation abnormality	dilated cardiomyopathy 1EE	1	1	MYH6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	328
Atrophic retina	Diastolic heart failure	1	1	ABCA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	150
Atrophic retina	Retinopathy background	1	0	ABCA4 (1)	0.33333	1.00000	1.299e-4	3.898e-4	150
Atypical fanconi syndrome	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	1	1	HNF4A (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Atypical hemolytic uremic syndrome	Factor h deficiency	1	1	CFH (2)	0.33333	1.00000	1.299e-4	3.898e-4	32
Atypical hemolytic uremic syndrome	Genetic hemolytic uremic syndrome	1	0	CFH (1)	0.33333	1.00000	1.299e-4	3.898e-4	32
Atypical multiple mole melanoma syndrome	Vulvar lichen sclerosus	1	1	CDKN2A (4)	0.33333	1.00000	1.299e-4	3.898e-4	45
Atypical teratoid rhabdoid tumor	Rhabdoid tumor	1	1	SMARCB1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	299
Atypical teratoid rhabdoid tumor	Rhabdoid tumor predisposition syndrome	1	1	SMARCB1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Auditory neuropathy with optic atrophy	FDXR-related optic atrophy mitochondrial dysfunction syndrome	1	1	FDXR (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Auditory perceptual disorder	Craniofacial anomalies with anterior segment dysgenesis	1	1	VSX1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	87
aural atresia, congenital	Congenital aural atresia	1	1	TSHZ1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
aural atresia, congenital	Congenital vertical talus	1	1	TSHZ1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Autoimmune interstitial lung disease-arthritis syndrome	Autoinflammation and autoimmunity, systemic, with immune dysregulation 1	1	1	COPA (5)	0.33333	1.00000	1.299e-4	3.898e-4	
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Haploinsufficiency	1	1	CTLA4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Autoimmune pancreatitis	autosomal recessive osteopetrosis 3	1	1	CA2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	1
Autoimmune pulmonary alveolar proteinosis	Thromboangiitis obliterans	1	1	HLA-DRB1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	254
Autoinflammation with infantile enterocolitis	Cria syndrome	1	1	RIPK1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	264
Autoinflammation with infantile enterocolitis	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection-lymphopenia syndrome	1	1	RIPK1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	264
Autoinflammation with infantile enterocolitis	immunodeficiency 57	1	1	RIPK1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	264
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome	Pelger-huet anomaly	1	1	CEBPE (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome	Specific granule deficiency	1	1	CEBPE (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Autoinflammation, panniculitis, and dermatosis syndrome	Craniometadiaphyseal dysplasia	1	1	OTULIN (5)	0.33333	1.00000	1.299e-4	3.898e-4	208
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	Craniometadiaphyseal dysplasia	1	1	OTULIN (2)	0.33333	1.00000	1.299e-4	3.898e-4	208
Autoinflammatory disease, familial, behcet-like 3	Mucocutaneous ulceration	1	1	RELA (4)	0.33333	1.00000	1.299e-4	3.898e-4	80
Autoinflammatory disease, familial, behcet-like 3	combined immunodeficiency due to RELA haploinsufficiency	1	1	RELA (3)	0.33333	1.00000	1.299e-4	3.898e-4	80
Autoinflammatory disease, systemic, x-linked	G6PD deficiency	1	1	G6PD (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	1	1	PSTPIP1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	polyglucosan body myopathy 1 with or without immunodeficiency	1	1	RBCK1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	immunodeficiency 115 with autoinflammation	1	1	RNF31 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Autoinflammatory syndrome, familial, x-linked, behcet-like	X-linked agammaglobulinemia with growth hormone deficiency	1	1	ELF4 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
autoinflammatory syndrome, familial, x-linked, behcet-like 2	X-linked agammaglobulinemia with growth hormone deficiency	1	1	ELF4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
autosomal dominant centronuclear myopathy	X-linked centronuclear myopathy	1	1	DNM2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	61
autosomal dominant hypocalcemia 1	Benign hypercalcemia	1	1	CASR (2)	0.33333	1.00000	1.299e-4	3.898e-4	210
autosomal dominant nebulin-related myopathy	Congenital neck anomaly	1	1	NEB (2)	0.33333	1.00000	1.299e-4	3.898e-4	333
autosomal recessive spinocerebellar ataxia 10	Neutral lipid storage disease with ichthyosis	1	1	ANO10 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
autosomal recessive spinocerebellar ataxia 20	Intellectual developmental disorder dysmorphic cerebellar	1	1	SNX14 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Avellino corneal dystrophy	Thiel-behnke corneal dystrophy	1	1	TGFBI (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Avoidant restrictive food intake disorder	Cavitary optic disk anomaly	1	1	APOE (2)	0.33333	1.00000	1.299e-4	3.898e-4	125
Axenfeld anomaly	FOXC1-related anterior segment dysgenesis	1	1	FOXC1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	82
Axenfeld anomaly	Ring dermoid of cornea	1	1	PITX2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	82
Axonal hereditary motor and sensory neuropathy	Nail dystrophy	1	1	MFN2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
BAP1-related tumor predisposition syndrome	Central nervous system neoplasms	1	1	BAP1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Baraitser-winter cerebrofrontofacial syndrome	Becker nevus syndrome	1	1	ACTB (6)	0.33333	1.00000	1.299e-4	3.898e-4	115
Baraitser-winter cerebrofrontofacial syndrome	Congenital smooth muscle hamartoma	1	1	ACTB (6)	0.33333	1.00000	1.299e-4	3.898e-4	115
Baraitser-winter cerebrofrontofacial syndrome	Developmental malformations-deafness-dystonia syndrome	1	1	ACTB (7)	0.33333	1.00000	1.299e-4	3.898e-4	115
Baraitser-winter cerebrofrontofacial syndrome	Dystonia-deafness syndrome	1	1	ACTB (6)	0.33333	1.00000	1.299e-4	3.898e-4	115
Baraitser-winter cerebrofrontofacial syndrome	baraitser-winter syndrome 2	1	1	ACTG1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	115
Baralle-macken syndrome	Intellectual developmental disorder dysmorphic microcephaly	1	1	COPB1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Barber-say syndrome	Focal facial dermal dysplasia	1	1	TWIST2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Bart-pumphrey syndrome	Deafness, digenic	1	1	GJB2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	68
Bart-pumphrey syndrome	Senter syndrome	1	1	GJB2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	68
Bart-pumphrey syndrome	Vohwinkel syndrome	1	1	GJB2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	68
Bartsocas-papas syndrome	Cocoon syndrome	1	1	CHUK (6)	0.33333	1.00000	1.299e-4	3.898e-4	409
Bartsocas-papas syndrome	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	1	1	CHUK (6)	0.33333	1.00000	1.299e-4	3.898e-4	409
Bartsocas-papas syndrome	bartsocas-papas syndrome 2	1	1	CHUK (5)	0.33333	1.00000	1.299e-4	3.898e-4	409
Bartsocas-papas syndrome	Curly hair ankyloblepharon nail dysplasia syndrome	1	1	RIPK4 (5)	0.33333	1.00000	1.299e-4	3.898e-4	409
Beare-stevenson cutis gyrata syndrome	Congenital aural atresia	1	1	FGFR2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	38
Beare-stevenson cutis gyrata syndrome	Crouzon syndrome	1	1	FGFR2 (7)	0.33333	1.00000	1.299e-4	3.898e-4	38
Becker generalized myotonia	Congenital myotonia	1	1	CLCN1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Becker generalized myotonia	Myotonia congenita	1	1	CLCN1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Benign epithelial tumor of salivary glands	silver-russell syndrome 5	1	1	HMGA2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	361
Benign hypercalcemia	neonatal severe primary hyperparathyroidism	1	1	CASR (2)	0.33333	1.00000	1.299e-4	3.898e-4	210
Benign hypercalcemia	familial hypocalciuric hypercalcemia 1	1	1	CASR (2)	0.33333	1.00000	1.299e-4	3.898e-4	210
Benign neonatal-infantile seizures	neonatal-onset developmental and epileptic encephalopathy	1	1	KCNQ2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	213
Benign neonatal-infantile seizures	neonatal encephalopathy with non-epileptic myoclonus	1	1	KCNQ2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	213
bent bone dysplasia syndrome 1	Congenital aural atresia	1	1	FGFR2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	38
bent bone dysplasia syndrome 1	Crouzon syndrome	1	1	FGFR2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	38
BEST1-related dominant retinopathy	Vitreoretinochoroidopathy	1	1	BEST1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	415
Beta-hexosaminidase a deficiency	Gm2 gangliosidosis	1	0	HEXA (1)	0.33333	1.00000	1.299e-4	3.898e-4	
Bifid nail	Otopalatodigital syndrome	1	1	OFD1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Bifid nose	Culler-jones syndrome	1	1	GLI2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	169
Bifid nose	Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	1	1	GLI2 (4)	0.33333	1.00000	1.299e-4	3.898e-4	169
Bifid nose	Bnar syndrome	1	1	FREM1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Bifid uvula	GRHL3-related orofacial clefting	1	1	GRHL3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Bifunctional enzyme deficiency	fanconi renotubular syndrome 3	1	1	EHHADH (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Bifunctional enzyme deficiency	D-bifunctional protein deficiency	1	1	HSD17B4 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Bilateral congenital mydriasis	Gillespie syndrome	1	1	ITPR1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Bilateral congenital vertical talus	Congenital vertical talus	1	1	HOXD10 (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Bilateral generalized polymicrogyria	microcephalic primordial dwarfism due to RTTN deficiency	1	1	RTTN (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Bilateral parasagittal parieto-occipital polymicrogyria	Yunis-varon syndrome	1	1	FIG4 (7)	0.33333	1.00000	1.299e-4	3.898e-4	311
Bilateral vestibulopathy	Cerebellar ataxia, neuropathy, and vestibular areflexia	1	1	RFC1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	243
Bile duct disease	protoporphyria, erythropoietic, 1	1	1	FECH (3)	0.33333	1.00000	1.299e-4	3.898e-4	318
Birk-barel syndrome	cataract 50 with or without glaucoma	1	1	TRPM3 (2)	0.33333	1.00000	1.299e-4	3.898e-4	122
Birt-hogg-dube syndrome	obsolete Birt-Hogg-Dube syndrome	1	1	FLCN (7)	0.33333	1.00000	1.299e-4	3.898e-4	285
Biventricular noncompaction cardiomyopathy	Ebstein anomaly	1	1	MYH7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	104
Biventricular noncompaction cardiomyopathy	Parieto-occipital craniosynostosis	1	0	MYH7 (1)	0.33333	1.00000	1.299e-4	3.898e-4	104
Bladder neck obstruction	Carcinoma in situ	1	1	PTGS2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	215
Bladder neck obstruction	Urinary bladder neck obstruction	1	1	PTGS2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	215
Blast crisis	hyper-IgM syndrome type 2	1	1	AICDA (2)	0.33333	1.00000	1.299e-4	3.898e-4	266
Bleeding esophageal varices	Sweat gland disease	1	1	SST (2)	0.33333	1.00000	1.299e-4	3.898e-4	340
Blepharocheilodontic syndrome	blepharocheilodontic syndrome 2	1	1	CTNND1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	165
Blepharocheilodontic syndrome	Hereditary diffuse gastric and lobular breast cancer syndrome	1	1	CDH1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	165
Blepharocheilodontic syndrome	CDH1-related diffuse gastric and lobular breast cancer syndrome	1	1	CDH1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	165
Blepharophimosis intellectual disability syndrome	intellectual disability-sparse hair-brachydactyly syndrome	1	1	SMARCA2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Blepharophimosis intellectual disability syndrome	Oculocerebrofacial syndrome	1	1	UBE3B (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Blepharophimosis intellectual disability syndrome	oculocerebrofacial syndrome, Kaufman type	1	1	UBE3B (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Blepharophimosis-ptosis-epicanthus inversus syndrome	Granulosa cell tumor of ovary	1	1	FOXL2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	216
Bloch sulzberger syndrome	G6PD deficiency	1	1	G6PD (2)	0.33333	1.00000	1.299e-4	3.898e-4	12
Bloom syndrome	hyper-IgM syndrome type 5	1	1	UNG (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Blue rubber bleb nevus syndrome	Bockenheimer syndrome	1	1	TEK (2)	0.33333	1.00000	1.299e-4	3.898e-4	257
Blue rubber bleb nevus syndrome	Mucocutaneous venous malformations	1	1	TEK (2)	0.33333	1.00000	1.299e-4	3.898e-4	257
Blue rubber bleb nevus syndrome	TEK-related primary glaucoma	1	1	TEK (3)	0.33333	1.00000	1.299e-4	3.898e-4	257
Bmpr1a-related juvenile polyposis	Myhre syndrome	1	1	SMAD4 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Bmpr1a-related juvenile polyposis	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	1	1	SMAD4 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Bnar syndrome	Craniofaciosynostosis	1	1	FREM1 (4)	0.33333	1.00000	1.299e-4	3.898e-4	139
Bockenheimer syndrome	Venous malformation	1	1	TEK (3)	0.33333	1.00000	1.299e-4	3.898e-4	257
Bohring syndrome	Bohring-opitz syndrome	1	1	ASXL1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	343
Bohring syndrome	Bohring-opitz-like syndrome	1	1	KLHL7 (2)	0.33333	1.00000	1.299e-4	3.898e-4	343
Bohring syndrome	Perching syndrome	1	1	KLHL7 (4)	0.33333	1.00000	1.299e-4	3.898e-4	343
Boichis syndrome	Rhyns syndrome	1	1	TMEM67 (4)	0.33333	1.00000	1.299e-4	3.898e-4	315
Bombay phenotype	Vitamin b12-unresponsive methylmalonic acidemia	1	1	FUT2 (3)	0.33333	1.00000	1.299e-4	3.898e-4	100
Bone dysplasia with increased bone density	Sclerosteosis	1	1	SOST (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Bone dysplasia with increased bone density	Van buchem disease	1	0	SOST (1)	0.33333	1.00000	1.299e-4	3.898e-4	123
Atelosteogenesis	Boomerang dysplasia	1	1	FLNB (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Bosma arhinia microphthalmia syndrome	Chediak-higashi syndrome	1	1	SMCHD1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	324
Brachydactyly-syndactyly syndrome	Hemimelia of limb	1	1	HOXD13 (5)	0.33333	1.00000	1.299e-4	3.898e-4	111
Brachymesophalangy	Hemimelia of limb	1	0	HOXD13 (1)	0.33333	1.00000	1.299e-4	3.898e-4	111
Brachytelephalangic chondrodysplasia punctata	X-linked chondrodysplasia punctata	1	1	ARSL (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome	Keratosis follicularis spinulosa decalvans, x-linked	1	1	MBTPS2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	346
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome	Olmsted syndrome, x-linked	1	1	MBTPS2 (5)	0.33333	1.00000	1.299e-4	3.898e-4	346
Brain compression	Breast cyst	1	0	CACNA1D (1)	0.33333	1.00000	1.299e-4	3.898e-4	116
Brain compression	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	1	1	CACNA1D (3)	0.33333	1.00000	1.299e-4	3.898e-4	116
Brain compression	sinoatrial node dysfunction and deafness	1	1	CACNA1D (2)	0.33333	1.00000	1.299e-4	3.898e-4	116
Brain tumor-polyposis syndrome	Cenani-lenz syndrome	1	1	APC (3)	0.33333	1.00000	1.299e-4	3.898e-4	37
Brain-lung-thyroid syndrome	Choreatic disease	1	1	NKX2-1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Branchiooculofacial syndrome	Cayler cardiofacial syndrome	1	1	EYA1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	134
Branchiootic syndrome	Cayler cardiofacial syndrome	1	1	EYA1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	134
Branchioskeletogenital syndrome	Teebi syndrome	1	1	CDH11 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Branchioskeletogenital syndrome	Elsahy-waters syndrome	1	1	CDH11 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Bresek syndrome	Keratosis follicularis spinulosa decalvans, x-linked	1	1	MBTPS2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	346
Bresek syndrome	Olmsted syndrome, x-linked	1	1	MBTPS2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	346
Brown-vialetto-van laere syndrome	brown-vialetto-van laere syndrome 1	1	1	SLC52A3 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Brown-vialetto-van laere syndrome	brown-vialetto-van laere syndrome 2	1	1	SLC52A2 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Bruton type agammaglobulinemia	X-linked agammaglobulinemia with growth hormone deficiency	1	1	BTK (5)	0.33333	1.00000	1.299e-4	3.898e-4	406
Bruton-type agammaglobulinemia	X-linked agammaglobulinemia with growth hormone deficiency	1	1	BTK (3)	0.33333	1.00000	1.299e-4	3.898e-4	406
Bryant-li-bhoj neurodevelopmental syndrome	Chondroblastoma	1	1	H3-3B (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Bryant-li-bhoj neurodevelopmental syndrome	Hemiparkinsonism hemiatrophy syndrome	1	1	H3-3B (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Bryant-li-bhoj neurodevelopmental syndrome	Giant cell tumor of bone	1	1	H3-3A (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Bryant-li-bhoj neurodevelopmental syndrome	bryant-li-bhoj neurodevelopmental syndrome 1	1	1	H3-3A (4)	0.33333	1.00000	1.299e-4	3.898e-4	
Bullous pyoderma gangrenosum	Sweet syndrome	1	1	PTPN6 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Burn-mckeown syndrome	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	1	1	TXNL4A (5)	0.33333	1.00000	1.299e-4	3.898e-4	95
Butyryl-coa dehydrogenase deficiency	short chain acyl-coa dehydrogenase deficiency	1	1	ACADS (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Butyrylcholinesterase deficiency	Paresis	1	1	BCHE (5)	0.33333	1.00000	1.299e-4	3.898e-4	397
CACNA1F-related retinopathy	Cone-rod dystrophy, x-linked	1	1	CACNA1F (4)	0.33333	1.00000	1.299e-4	3.898e-4	
CACNA1F-related retinopathy	X-linked cone-rod dystrophy	1	1	CACNA1F (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Caffey disease	Combined osteogenesis imperfecta and ehlers-danlos syndrome 	1	1	COL1A1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	93
Caffey disease	Cortical congenital hyperostosis	1	1	COL1A1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	93
Camurati-engelmann syndrome	Peritoneal fibrosis	1	1	TGFB1 (5)	0.33333	1.00000	1.299e-4	3.898e-4	
Camurati-engelmann syndrome	inflammatory bowel disease, immunodeficiency, and encephalopathy	1	1	TGFB1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Camurati-engelmann syndrome	Worth syndrome	1	1	LRP5 (3)	0.33333	1.00000	1.299e-4	3.898e-4	123
Camurati-engelmann syndrome	polycystic liver disease 4 with or without kidney cysts	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	123
Camurati-engelmann syndrome	LRP5-related exudative vitreoretinopathy	1	1	LRP5 (2)	0.33333	1.00000	1.299e-4	3.898e-4	123
Canavan disease	Genetic infertility	1	1	SPATA22 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cantu syndrome	Intellectual disability and myopathy syndrome	1	1	ABCC9 (6)	0.33333	1.00000	1.299e-4	3.898e-4	234
Cantu syndrome	hypertrichotic osteochondrodysplasia Cantu type	1	1	ABCC9 (5)	0.33333	1.00000	1.299e-4	3.898e-4	234
Cantu syndrome	dilated cardiomyopathy 1O	1	1	ABCC9 (5)	0.33333	1.00000	1.299e-4	3.898e-4	234
Capillary-lymphatic-venous malformation	Clapo syndrome	1	1	PIK3CA (3)	0.33333	1.00000	1.299e-4	3.898e-4	53
Capillary-lymphatic-venous malformation	Cloves syndrome	1	1	PIK3CA (2)	0.33333	1.00000	1.299e-4	3.898e-4	53
Capillary-lymphatic-venous malformation	Congenital intestinal duplication	1	1	PIK3CA (2)	0.33333	1.00000	1.299e-4	3.898e-4	53
Capillary-lymphatic-venous malformation	Congenital macrodactylia	1	1	PIK3CA (3)	0.33333	1.00000	1.299e-4	3.898e-4	53
Capillary-lymphatic-venous malformation	Congenital malformation syndromes involving early overgrowth	1	1	PIK3CA (2)	0.33333	1.00000	1.299e-4	3.898e-4	53
Carasil syndrome	Malignant peripheral nerve sheath tumor	1	1	HTRA1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Carasil syndrome	Malignant triton tumor	1	1	HTRA1 (3)	0.33333	1.00000	1.299e-4	3.898e-4	
Carbamoyl phosphate synthetase deficiency	Congenital hyperammonemia	1	1	CPS1 (7)	0.33333	1.00000	1.299e-4	3.898e-4	
Carbamoyl phosphate synthetase deficiency	carbamoyl phosphate synthetase I deficiency disease	1	1	CPS1 (6)	0.33333	1.00000	1.299e-4	3.898e-4	
Carbamoyl phosphate synthetase deficiency	developmental and epileptic encephalopathy, 50	1	1	CAD (2)	0.33333	1.00000	1.299e-4	3.898e-4	347
Carbohydrate deficient glycoprotein syndrome	MAN1B1-congenital disorder of glycosylation	1	1	MAN1B1 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Carbohydrate deficient glycoprotein syndrome	TMEM165-congenital disorder of glycosylation	1	1	TMEM165 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Cardiac anomalies - developmental delay - facial dysmorphism syndrome	Congenital camptodactyly	1	1	MED13L (3)	0.33333	1.00000	1.299e-4	3.898e-4	56
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	Stress urinary incontinence	1	1	TAB2 (2)	0.33333	1.00000	1.299e-4	3.898e-4	
Blepharoptosis	Costello syndrome	2	2	PTPN11 (3), SOS1 (2)	0.06452	0.15385	1.116e-4	3.898e-4	49
Agammaglobulinemia	Burkitt lymphoma	2	2	PIK3R1 (4), TCF3 (5)	0.06452	0.15385	1.116e-4	3.898e-4	184
Congenital brain malformation	Congenital pontocerebellar hypoplasia	2	0	CHMP1A (1), TOE1 (1)	0.06452	0.13333	1.195e-4	3.898e-4	
Congenital hypoplasia of part of brain	Congenital pontocerebellar hypoplasia	2	0	CHMP1A (1), TOE1 (1)	0.06452	0.13333	1.195e-4	3.898e-4	
Congenital pontocerebellar hypoplasia	Microgyria	2	0	CHMP1A (1), TOE1 (1)	0.06452	0.13333	1.195e-4	3.898e-4	
Diabetic cardiomyopathy	Potassium deficiency	2	2	INS (2), AGT (2)	0.06452	0.14286	1.165e-4	3.898e-4	
Congenital anomaly of limb	Vacterl association	2	2	SALL1 (2), HOXD13 (3)	0.06452	0.12500	1.204e-4	3.898e-4	
Bicuspid aortic valve	Hypoplastic left heart syndrome	2	2	NOTCH1 (3), NKX2-5 (5)	0.06452	0.14286	1.165e-4	3.898e-4	
Substance-induced psychosis	Tremor	2	0	HTR1A (1), ADORA2A (1)	0.06452	0.13333	1.195e-4	3.898e-4	
Hemorrhagic disease	Thromboembolism	2	2	JAK2 (2), F7 (2)	0.06250	0.16667	1.160e-4	3.898e-4	36
Central serous retinopathy	Fuchs endothelial dystrophy	2	0	RORA (1), CFH (1)	0.06061	0.18182	1.164e-4	3.898e-4	
Angina pectoris	Keratitis	2	1	TLR4 (2), CXCL8 (1)	0.06061	0.16667	1.275e-4	3.898e-4	
Hyperoxaluria	Mucopolysaccharidosis	2	2	IDUA (5), SLC26A1 (2)	0.06061	0.16667	1.275e-4	3.898e-4	
Anti-neutrophil antibody associated vasculitis	Gastroparesis	2	0	HLA-DQA1 (1), HLA-DPB1 (1)	0.06061	0.18182	1.164e-4	3.898e-4	1
Cardiofaciocutaneous syndrome	Cerebral arteriovenous malformations	2	2	BRAF (7), KRAS (8)	0.06061	0.16667	1.275e-4	3.898e-4	
Cutaneous lupus erythematosus	Mixed connective tissue disease	2	1	HLA-DRB1 (2), KCNMB2 (1)	0.05882	0.18182	1.270e-4	3.898e-4	
Hyperphosphatasia with intellectual disability syndrome	Uranostaphyloschisis	2	1	SETD5 (1), PIGW (6)	0.05882	0.18182	1.270e-4	3.898e-4	
Apraxia	Language development disorders	2	2	BCL11A (2), FOXP2 (2)	0.05714	0.20000	1.224e-4	3.898e-4	
Deafness, x-linked	Leukodystrophy	2	1	AIFM1 (4), RAB33A (1)	0.05714	0.20000	1.224e-4	3.898e-4	
Internet addiction disorder	Peritoneal disease	2	0	DISC1 (1), ERBB4 (1)	0.05556	0.22222	1.139e-4	3.898e-4	
Epithelial ovarian carcinoma	Venous insufficiency	2	2	GSTT1 (2), ABO (2)	0.05556	0.22222	1.139e-4	3.898e-4	
Spermatogenic failure, x-linked	Testicular azoospermia	2	2	GCNA (3), TEX11 (4)	0.05000	0.25000	1.237e-4	3.898e-4	11
complex neurodevelopmental disorder with motor features	Dystonia	2	2	KMT2B (7), CACNA1B (2)	0.04082	0.33333	1.188e-4	3.898e-4	
Salivary gland neoplasms	Transitional cell carcinoma	3	0	DAPK1 (1), CCND1 (1), ESPL1 (1)	0.04000	0.09091	1.119e-4	3.898e-4	
Osteonecrosis	Vesicoureteral reflux	3	0	CSGALNACT1 (1), PAG1 (1), ZNF704 (1)	0.04000	0.07895	1.192e-4	3.898e-4	
Cerebral hemorrhage	Otosclerosis	3	3	SPP1 (2), COL4A2 (2), KDR (2)	0.03846	0.10345	1.177e-4	3.898e-4	
Glycine encephalopathy	Hyperglycemia	2	2	GLDC (7), AMT (8)	0.03571	0.40000	1.111e-4	3.898e-4	
Conotruncal cardiac defect	Hereditary atrial fibrillation	3	3	NKX2-6 (6), NKX2-5 (6), GATA6 (6)	0.03529	0.12500	1.243e-4	3.898e-4	
Ehlers-danlos syndrome	Hemorrhoid	4	4	SMAD3 (2), THBS2 (5), MYH11 (2), COL5A2 (8)	0.03077	0.09091	1.186e-4	3.898e-4	
Bone disease	Dupuytren contracture	5	1	JAG1 (3), FMN2 (1), ZBTB40 (1), SFRP4 (1), STARD3NL (1)	0.02994	0.06098	1.107e-4	3.898e-4	303
Dupuytren contracture	Primary angle closure glaucoma	3	0	GLIS3 (1), EPDR1 (1), SFRP4 (1)	0.02885	0.17647	1.197e-4	3.898e-4	
Cystic fibrosis-related diabetes	Lewy body disease	2	0	RAB7B (1), SLC26A9 (1)	0.02062	0.66667	1.125e-4	3.898e-4	
Camos syndrome	Sarcoidosis	2	2	ZNF592 (2), WDR73 (4)	0.01220	1.00000	1.114e-4	3.898e-4	
Blepharoptosis	Congenital epicanthus	2	0	ANKRD11 (1), PTPN11 (1)	0.06250	0.14286	1.301e-4	3.905e-4	
Auricle malformation	Strabismus	2	0	KMT2D (1), PTPN11 (1)	0.04878	0.25000	1.314e-4	3.943e-4	
Esophageal atresia	Genetic predisposition to disease	3	3	TERT (2), GSTM1 (2), CACNA1C (2)	0.03846	0.09375	1.323e-4	3.970e-4	
Cystitis	Nuclear cataract	2	2	CRYBB2 (2), CRYBB3 (2)	0.06250	0.13333	1.343e-4	4.028e-4	
Amnesia	Cystitis	2	2	NGF (2), POMC (2)	0.06250	0.13333	1.343e-4	4.028e-4	
Eye abnormalities	Loeys-dietz syndrome	2	2	TGFB2 (6), TGFBR2 (7)	0.06250	0.12500	1.364e-4	4.091e-4	
Eye abnormalities	Walker-warburg syndrome	2	2	CRPPA (3), COL4A1 (3)	0.06250	0.12500	1.364e-4	4.091e-4	40
Cone rod dystrophy and hearing loss	Optic atrophy	2	2	CEP78 (5), CEP250 (4)	0.01099	1.00000	1.374e-4	4.120e-4	
Conduct disorder	Spondylosis	3	0	LIG4 (1), NALF1 (1), PTPRD (1)	0.03750	0.10000	1.383e-4	4.145e-4	
Biliary atresia	Haddad syndrome	2	2	PAH (2), EDN3 (2)	0.05128	0.22222	1.400e-4	4.194e-4	331
Biliary atresia	Congenital central hypoventilation syndrome	2	2	PAH (2), EDN3 (4)	0.05128	0.22222	1.400e-4	4.194e-4	331
Hepatic insufficiency	Pancreatic ductal carcinoma	2	0	NFE2L2 (1), RELA (1)	0.05128	0.22222	1.400e-4	4.194e-4	80
Epithelial ovarian carcinoma	Keratosis	2	2	TP53 (2), GSTM1 (2)	0.05405	0.20000	1.422e-4	4.260e-4	
Paraquat lung disease	Pulmonary fibrosis	2	2	SMAD7 (2), SKIL (2)	0.01835	0.66667	1.429e-4	4.280e-4	
Congenital hydrocephalus	Fraser syndrome	2	1	WDR81 (3), PTCH1 (1)	0.06061	0.14286	1.445e-4	4.327e-4	
Congenital epicanthus	Cryptorchidism	2	0	ANKRD11 (1), KAT6B (1)	0.06061	0.14286	1.445e-4	4.327e-4	
Cerebral arteriovenous malformations	Costello syndrome	2	2	BRAF (3), KRAS (4)	0.05882	0.15385	1.506e-4	4.508e-4	
Hypospadias	Porphyria cutanea tarda	2	0	GSTM1 (1), CYP1A1 (1)	0.04167	0.28571	1.512e-4	4.527e-4	
Glycosylphosphatidylinositol biosynthesis defect	Uranostaphyloschisis	2	1	MYO19 (1), PIGW (2)	0.05714	0.16667	1.522e-4	4.555e-4	
Lipoma	Uterine polyp	2	0	TERT (1), ACTRT3 (1)	0.05714	0.16667	1.522e-4	4.555e-4	138
Urinary system neoplasms	Uterine polyp	2	0	TERT (1), ACTRT3 (1)	0.05714	0.16667	1.522e-4	4.555e-4	
Loeys-dietz syndrome	Thoracic aortic aneurysm	2	2	FBN1 (2), SMAD6 (2)	0.06061	0.12500	1.534e-4	4.588e-4	
Gliosarcoma	Hemangiosarcoma	2	1	TP53 (2), VEGFA (1)	0.06061	0.12500	1.534e-4	4.588e-4	
Melas syndrome	Mitochondrial encephalomyopathy	2	1	POLG (1), CYTB (2)	0.06061	0.12500	1.534e-4	4.588e-4	
Body weight	Diabetic nephropathy type 2	2	2	CDKAL1 (2), FTO (2)	0.06061	0.12500	1.534e-4	4.588e-4	
Lymphoid leukemia	Ocular sarcoidosis	3	0	ALDH1A2 (1), LIPC (1), HLA-DQB1 (1)	0.03571	0.10714	1.554e-4	4.647e-4	
B-cell chronic lymphocytic leukemia	Diamond-blackfan anemia	2	2	TP53 (2), RPS15 (2)	0.04545	0.25000	1.559e-4	4.661e-4	
Cerebellar ataxia	Diencephalic mesencephalic junction dysplasia	2	1	PCDH12 (5), RNF14 (1)	0.01724	0.66667	1.622e-4	4.850e-4	
Esophageal disease	Esotropia	2	2	SOD2 (3), TRPV1 (2)	0.05128	0.20000	1.635e-4	4.889e-4	
Amblyopia	Eye neoplasms	2	0	NPLOC4 (1), OCA2 (1)	0.05556	0.16667	1.654e-4	4.943e-4	
Combined immunodeficiency disease	Tubular aggregate myopathy	2	2	ORAI1 (5), STIM1 (5)	0.04000	0.28571	1.661e-4	4.963e-4	
Brain infarction	Ventricular dysfunction	3	3	ALDH2 (2), PLAT (2), SIRT1 (2)	0.03750	0.08333	1.663e-4	4.968e-4	
Gastroparesis	Internet addiction disorder	2	1	PRKG1 (1), NRG1 (2)	0.05263	0.18182	1.736e-4	5.187e-4	
Dyslipidemias	Osteopetrosis	2	2	TNFRSF11A (6), TCIRG1 (8)	0.05882	0.11765	1.737e-4	5.190e-4	
Dyschromatosis	Dyschromatosis symmetrica hereditaria	1	1	SASH1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	378
Dyschromatosis symmetrica hereditaria	dyschromatosis universalis hereditaria 3	1	1	ABCB6 (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Dyschromatosis symmetrica hereditaria	microphthalmia, isolated, with coloboma 7	1	1	ABCB6 (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Kenny caffey syndrome	1	1	TBCE (5)	0.25000	1.00000	1.948e-4	5.278e-4	222
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	1	1	TBCE (3)	0.25000	1.00000	1.948e-4	5.278e-4	222
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Sanjad-sakati syndrome	1	1	TBCE (3)	0.25000	1.00000	1.948e-4	5.278e-4	222
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	encephalopathy, progressive, with amyotrophy and optic atrophy	1	1	TBCE (3)	0.25000	1.00000	1.948e-4	5.278e-4	222
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	Kenny-caffey syndrome	1	1	TBCE (4)	0.25000	1.00000	1.948e-4	5.278e-4	222
East texas bleeding disorder	Venous hypertension	1	1	F5 (3)	0.25000	1.00000	1.948e-4	5.278e-4	84
Congenital pectus carinatum	Ectopia lentis	1	1	FBN1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	28
Coronary artery dissection	Ectopia lentis	1	1	FBN1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	28
Eichsfeld type congenital muscular dystrophy	Zebra body myopathy	1	1	ACTA1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Eichsfeld type congenital muscular dystrophy	SELENON-related myopathy	1	1	SELENON (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Encephalitis	X-linked cerebral adrenoleukodystrophy	1	1	ABCD1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
encephalopathy, progressive, with amyotrophy and optic atrophy	Kenny-caffey syndrome	1	1	TBCE (4)	0.25000	1.00000	1.948e-4	5.278e-4	222
Diffuse nonepidermolytic palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma	1	1	KRT1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	187
Epidermolytic palmoplantar keratoderma	Keratosis of greither	1	1	KRT1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	187
episodic ataxia type 1	Episodic kinesigenic dyskinesia	1	1	KCNA1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	85
Episodic kinesigenic dyskinesia	Familial infantile convulsions with paroxysmal choreoathetosis	1	1	PRRT2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	85
Episodic kinesigenic dyskinesia	Paroxysmal dystonia	1	1	PRRT2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	85
Au-kline syndrome	Erythrocytosis due to tissue hypoxemia	1	0	VHL (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Erythrokeratodermia-cardiomyopathy syndrome	Right ventricular cardiomyopathy	1	0	DSP (1)	0.25000	1.00000	1.948e-4	5.278e-4	206
Erythromelalgia	hereditary sensory and autonomic neuropathy type 7	1	1	SCN11A (2)	0.25000	1.00000	1.948e-4	5.278e-4	171
Esophageal and gastric varices	Vipoma	1	0	SST (1)	0.25000	1.00000	1.948e-4	5.278e-4	340
exostoses, multiple, type 1	Trichorhinophalangeal syndrome	1	1	EXT1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
exostoses, multiple, type 2	Potocki-shaffer syndrome	1	1	EXT2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	108
factor 5 and Factor VIII, combined deficiency of, 2	Gastrointestinal defects and immunodeficiency syndrome	1	1	MCFD2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Factor h deficiency	Thrombotic microangiopathy	1	1	CFH (2)	0.25000	1.00000	1.948e-4	5.278e-4	32
atypical hemolytic-uremic syndrome	Factor h deficiency	1	1	CFH (2)	0.25000	1.00000	1.948e-4	5.278e-4	32
Factor i deficiency	Thrombotic microangiopathy	1	1	CFI (2)	0.25000	1.00000	1.948e-4	5.278e-4	32
Factor vii deficiency	Hematoma	1	1	F7 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
FAM111A-related skeletal dysplasia	Kenny-caffey syndrome	1	1	FAM111A (7)	0.25000	1.00000	1.948e-4	5.278e-4	
familial acute necrotizing encephalopathy	Hyperkalemic periodic paralysis	1	1	RANBP2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	170
familial hemophagocytic lymphohistiocytosis 5	Microvillus inclusion disease	1	1	STXBP2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	96
familial hypobetalipoproteinemia 1	Hypobetalipoproteinemia	1	1	APOB (4)	0.25000	1.00000	1.948e-4	5.278e-4	201
familial hypobetalipoproteinemia 2	Hypobetalipoproteinemia	1	1	ANGPTL3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	201
familial hypocalciuric hypercalcemia 1	Hypocalciuric hypercalcemia	1	1	CASR (7)	0.25000	1.00000	1.948e-4	5.278e-4	210
familial juvenile hyperuricemic nephropathy type 2	Malignant hypertension	1	1	REN (3)	0.25000	1.00000	1.948e-4	5.278e-4	70
Familial polycythemia	Growth retardation, mild developmental delay, chronic hepatitis syndrome	1	1	SH2B3 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Familial polycythemia	SH2B3-related immune system disorder	1	1	SH2B3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
FANCM Fanconi-like genomic instability disorder	hereditary breast carcinoma	1	0	FANCM (1)	0.25000	1.00000	1.948e-4	5.278e-4	
FAS-related autoimmune lymphoproliferative immune disorder	Leukocyte disorders	1	1	FAS (3)	0.25000	1.00000	1.948e-4	5.278e-4	246
FAT4-related neurodevelopmental disorder	Hennekam syndrome	1	1	FAT4 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Ferroxidase deficiency	Hemosiderosis	1	1	CP (2)	0.25000	1.00000	1.948e-4	5.278e-4	188
Ferroxidase deficiency	hemochromatosis type 4	1	1	SLC40A1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	188
Ferroxidase deficiency	hermansky-pudlak syndrome 3	1	1	HPS3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	188
focal segmental glomerulosclerosis 7	Renal cysts and diabetes syndrome	1	1	PAX2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Frontonasal dysplasia with alopecia and genital anomaly	Potocki-shaffer syndrome	1	1	ALX4 (5)	0.25000	1.00000	1.948e-4	5.278e-4	108
Intellectual disability with strabismus syndrome	intellectual disability-strabismus syndrome	1	1	ADAT3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	White sutton syndrome	1	1	POGZ (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Intracranial arteriovenous malformation	telangiectasia, hereditary hemorrhagic, type 1	1	1	ENG (2)	0.25000	1.00000	1.948e-4	5.278e-4	
joubert syndrome 3	Selective immunoglobulin a deficiency	1	1	AHI1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	369
kabuki syndrome 1	Vissers-bodmer syndrome	1	1	KMT2D (2)	0.25000	1.00000	1.948e-4	5.278e-4	95
KAT6B-related multiple congenital anomalies syndrome	Neuropathic spinal arthropathy	1	1	KAT6B (2)	0.25000	1.00000	1.948e-4	5.278e-4	
KCNH1 associated disorder	Zimmermann-laband syndrome	1	1	KCNH1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Kenny caffey syndrome	Kenny-caffey syndrome	1	1	TBCE (6)	0.25000	1.00000	1.948e-4	5.278e-4	222
Kenny-caffey syndrome	Osteocraniostenosis	1	1	FAM111A (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Kenny-caffey syndrome	Sanjad-sakati syndrome	1	1	TBCE (4)	0.25000	1.00000	1.948e-4	5.278e-4	222
Keratitis ichthyosis hearing loss syndrome	Keratitis-ichthyosis-deafness syndrome	1	1	GJB2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	68
Keratosis follicularis spinulosa decalvans	Tricuspid atresia	1	1	LRP1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	247
Keratosis follicularis spinulosa decalvans	pediatric systemic lupus erythematosus	1	1	SAT1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	247
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome	Keratosis follicularis spinulosa decalvans	1	1	MBTPS2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Achondroplasia	Lacrimoauriculodentodigital syndrome	1	1	FGFR3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Camptodactyly, tall stature, and hearing loss syndrome	Lacrimoauriculodentodigital syndrome	1	1	FGFR3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Achondroplasia	Ladd syndrome	1	1	FGFR3 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Camptodactyly, tall stature, and hearing loss syndrome	Ladd syndrome	1	1	FGFR3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Bent bone dysplasia	LAMA5-related multisystemic syndrome	1	1	LAMA5 (4)	0.25000	1.00000	1.948e-4	5.278e-4	164
Leukocyte adhesion deficiency	leukocyte adhesion deficiency type II	1	1	SLC35C1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	142
Leukocyte adhesion deficiency	leukocyte adhesion deficiency 3	1	1	FERMT3 (7)	0.25000	1.00000	1.948e-4	5.278e-4	142
long chain 3-hydroxyacyl-coa dehydrogenase deficiency	Trifunctional protein deficiency	1	1	HADHA (3)	0.25000	1.00000	1.948e-4	5.278e-4	
LZTR1-related schwannomatosis	Schwannomatosis	1	1	LZTR1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Macronodular adrenal hyperplasia	Primary bilateral macronodular adrenal hyperplasia	1	1	ARMC5 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Malignant hypertension	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Malignant hypertension	renal tubular dysgenesis of genetic origin	1	1	REN (3)	0.25000	1.00000	1.948e-4	5.278e-4	70
Schimmelpenning-feuerstein-mims syndrome	Splenic neoplasms	1	1	HRAS (2)	0.25000	1.00000	1.948e-4	5.278e-4	17
Schwartz-jampel syndrome	Schwartz-Jampel syndrome type 1	1	1	HSPG2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	146
Schwartz-jampel syndrome	Silverman-Handmaker type dyssegmental dysplasia	1	1	HSPG2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	146
Multiminicore myopathy	SELENON-related myopathy	1	1	SELENON (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Achondroplasia	Seminoma	1	1	FGFR3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Camptodactyly, tall stature, and hearing loss syndrome	Seminoma	1	1	FGFR3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Catshl syndrome	Seminoma	1	1	FGFR3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Crouzon syndrome with acanthosis nigricans	Seminoma	1	1	FGFR3 (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital pectus carinatum	Shprintzen-goldberg syndrome	1	1	FBN1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Coronary artery dissection	Shprintzen-goldberg syndrome	1	1	FBN1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
silver-russell syndrome 5	Well-differentiated liposarcoma	1	1	HMGA2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	361
Skeletal system disease	Skeletal system disorder	1	1	SHH (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Smith-magenis syndrome	syndromic X-linked intellectual disability Snyder type	1	1	SMS (2)	0.25000	1.00000	1.948e-4	5.278e-4	285
Cardiac tamponade	Spinal cord compression	1	1	PLAT (2)	0.25000	1.00000	1.948e-4	5.278e-4	29
Spinocerebellar ataxia, x-linked	X-linked non progressive cerebellar ataxia	1	1	ATP2B3 (5)	0.25000	1.00000	1.948e-4	5.278e-4	422
Seminoma	Splenic neoplasms	1	0	HRAS (1)	0.25000	1.00000	1.948e-4	5.278e-4	17
Coronal craniosynostosis	Sweeney-cox syndrome	1	1	TWIST1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	250
Saethre-chotzen syndrome	Sweeney-cox syndrome	1	1	TWIST1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Synpolydactyly	Zygodactyly	1	1	HOXD13 (5)	0.25000	1.00000	1.948e-4	5.278e-4	111
T-B+ severe combined immunodeficiency due to gamma chain deficiency	X-linked combined immunodeficiency diseases	1	1	IL2RG (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Tay-sachs disease	Tay-Sachs disease AB variant	1	1	GM2A (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Coronal craniosynostosis	TCF12-related craniosynostosis	1	1	TCF12 (2)	0.25000	1.00000	1.948e-4	5.278e-4	250
Temple-baraitser syndrome	Zimmermann-laband syndrome	1	1	KCNH1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Thiamine-responsive megaloblastic anemia	Venous hypertension	1	1	SLC19A2 (7)	0.25000	1.00000	1.948e-4	5.278e-4	84
Alpha thalassemia x-linked intellectual disability	Thoracic disease	1	1	ATRX (3)	0.25000	1.00000	1.948e-4	5.278e-4	117
Atr-x syndrome	Thoracic disease	1	1	ATRX (4)	0.25000	1.00000	1.948e-4	5.278e-4	117
Thoracic disease	X-linked alpha-thalassemia-intellectual disability syndrome	1	1	ATRX (3)	0.25000	1.00000	1.948e-4	5.278e-4	117
ATR-X-related syndrome	Thoracic disease	1	1	ATRX (3)	0.25000	1.00000	1.948e-4	5.278e-4	117
Three-vessel coronary artery disease	Upshaw-schulman syndrome	1	1	ADAMTS13 (2)	0.25000	1.00000	1.948e-4	5.278e-4	325
Cerebral sinovenous thrombosis	thrombophilia due to activated protein c resistance	1	1	F5 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
thrombophilia due to activated protein c resistance	Venous hypertension	1	1	F5 (2)	0.25000	1.00000	1.948e-4	5.278e-4	84
thrombophilia, X-linked, due to factor 9 defect	Warfarin sensitivity	1	1	F9 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Tibial hemimelia	White sutton syndrome	1	0	GLI3 (1)	0.25000	1.00000	1.948e-4	5.278e-4	192
Mandibuloacral dysostosis	Tight skin contracture syndrome	1	1	ZMPSTE24 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Torg-winchester syndrome	Winchester syndrome	1	1	MMP14 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
dilated cardiomyopathy 1E	Torsades de pointes	1	1	SCN5A (3)	0.25000	1.00000	1.948e-4	5.278e-4	140
SCN5A-related cardiac rhythm disorder	Torsades de pointes	1	1	SCN5A (3)	0.25000	1.00000	1.948e-4	5.278e-4	140
Osteoglophonic dwarfism	Trigonocephaly	1	1	FGFR1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	139
Osteoglophonic dysplasia	Trigonocephaly	1	1	FGFR1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	139
Pfeiffer syndrome type 1	Trigonocephaly	1	1	FGFR1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	139
Hartsfield-Bixler-Demyer syndrome	Trigonocephaly	1	1	FGFR1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	139
TUBB3-related tubulinopathy	X-linked hydrocephalus syndrome	1	1	TUBB3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Brain tumor-polyposis syndrome	Turcot syndrome	1	1	APC (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Familial adenomatous polyposis	Turcot syndrome	1	1	APC (4)	0.25000	1.00000	1.948e-4	5.278e-4	
gastric adenocarcinoma and proximal polyposis of the stomach	Turcot syndrome	1	1	APC (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Coronal craniosynostosis	TWIST1-related craniosynostosis	1	1	TWIST1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	250
Saethre-chotzen syndrome	TWIST1-related craniosynostosis	1	1	TWIST1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Clapo syndrome	Vascular malformation	1	1	PIK3CA (4)	0.25000	1.00000	1.948e-4	5.278e-4	53
Cloves syndrome	Vascular malformation	1	1	PIK3CA (3)	0.25000	1.00000	1.948e-4	5.278e-4	53
Congenital intestinal duplication	Vascular malformation	1	1	PIK3CA (2)	0.25000	1.00000	1.948e-4	5.278e-4	53
Congenital macrodactylia	Vascular malformation	1	1	PIK3CA (3)	0.25000	1.00000	1.948e-4	5.278e-4	53
Congenital malformation syndromes involving early overgrowth	Vascular malformation	1	1	PIK3CA (2)	0.25000	1.00000	1.948e-4	5.278e-4	53
Vitamin d deficiency	Worth syndrome	1	1	LRP5 (3)	0.25000	1.00000	1.948e-4	5.278e-4	123
polycystic liver disease 4 with or without kidney cysts	Vitamin d deficiency	1	1	LRP5 (2)	0.25000	1.00000	1.948e-4	5.278e-4	123
LRP5-related exudative vitreoretinopathy	Vitamin d deficiency	1	1	LRP5 (2)	0.25000	1.00000	1.948e-4	5.278e-4	123
Collagenopathy	Vitreoretinopathy	1	1	COL2A1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	15
Coxa plana	Vitreoretinopathy	1	1	COL2A1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	15
Czech dysplasia	Vitreoretinopathy	1	1	COL2A1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	15
Dysspondyloenchondromatosis	Vitreoretinopathy	1	1	COL2A1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	15
kniest dysplasia	Vitreoretinopathy	1	1	COL2A1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	15
Au-kline syndrome	von hippel-lindau disease	1	1	VHL (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral thrombosis	von Willebrand disease type 2B	1	1	VWF (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	Weyers acrofacial dysostosis	1	1	CTNNB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Weyers acrofacial dysostosis	1	1	CTNNB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Schimmelpenning-feuerstein-mims syndrome	Woolly hair nevus	1	1	HRAS (2)	0.25000	1.00000	1.948e-4	5.278e-4	17
Seminoma	Woolly hair nevus	1	1	HRAS (2)	0.25000	1.00000	1.948e-4	5.278e-4	17
Hemoglobin barts fetalis syndrome	X-linked alpha-thalassemia-intellectual disability syndrome	1	1	ATRX (2)	0.25000	1.00000	1.948e-4	5.278e-4	
X-linked combined immunodeficiency diseases	X-linked severe combined immunodeficiency	1	1	IL2RG (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral creatine deficiency syndrome	X-linked creatine transporter deficiency	1	1	SLC6A8 (3)	0.25000	1.00000	1.948e-4	5.278e-4	380
Partial corpus callosum agenesis, x-linked	X-linked hydrocephalus syndrome	1	1	L1CAM (4)	0.25000	1.00000	1.948e-4	5.278e-4	277
Masa syndrome	X-linked hydrocephalus syndrome	1	1	L1CAM (6)	0.25000	1.00000	1.948e-4	5.278e-4	277
X-linked complicated corpus callosum dysgenesis	X-linked hydrocephalus syndrome	1	1	L1CAM (4)	0.25000	1.00000	1.948e-4	5.278e-4	277
X-linked complicated spastic paraplegia	X-linked hydrocephalus syndrome	1	1	L1CAM (4)	0.25000	1.00000	1.948e-4	5.278e-4	277
X-linked hydrocephalus syndrome	X-linked hydrocephalus with stenosis of the aqueduct of sylvius	1	1	L1CAM (3)	0.25000	1.00000	1.948e-4	5.278e-4	277
Deafness, nonsyndromic sensorineural, mitochondrial	Xq21 microdeletion syndrome	1	1	POU3F4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	244
Hearing loss with stapes fixation	Xq21 microdeletion syndrome	1	1	POU3F4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Ankylosis	Pfeiffer syndrome	1	1	FGFR2 (8)	0.25000	1.00000	1.948e-4	5.278e-4	38
Beare-stevenson cutis gyrata syndrome	Pfeiffer syndrome	1	1	FGFR2 (8)	0.25000	1.00000	1.948e-4	5.278e-4	38
Cutis gyrata syndrome	Pfeiffer syndrome	1	1	FGFR2 (8)	0.25000	1.00000	1.948e-4	5.278e-4	38
bent bone dysplasia syndrome 1	Pfeiffer syndrome	1	1	FGFR2 (8)	0.25000	1.00000	1.948e-4	5.278e-4	38
Polycythemia, primary familial and congenital	SH2B3-related immune system disorder	1	1	SH2B3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Microvascular angina	Portal vein thrombosis	1	1	MTHFR (2)	0.25000	1.00000	1.948e-4	5.278e-4	60
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Portal vein thrombosis	1	1	MTHFR (2)	0.25000	1.00000	1.948e-4	5.278e-4	60
Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	White sutton syndrome	1	1	GLI2 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Potocki-shaffer syndrome	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	1	1	EXT2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	108
Preaxial polydactyly with upper back hypertrichosis	Skeletal system disease	1	1	SHH (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Erythromelalgia	Primary erythromelalgia	1	1	SCN9A (6)	0.25000	1.00000	1.948e-4	5.278e-4	171
Arthropathy	progressive pseudorheumatoid arthropathy of childhood	1	1	CCN6 (2)	0.25000	1.00000	1.948e-4	5.278e-4	27
Activated pi3k-delta syndrome	PTEN hamartoma tumor syndrome	1	1	PTEN (2)	0.25000	1.00000	1.948e-4	5.278e-4	
PTEN hamartoma tumor syndrome	Retinal vasculopathy with cerebral leukodystrophy	1	1	PTEN (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Refractory anemia	Spinal cord compression	1	1	TNF (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Renal cysts and diabetes syndrome	Renal dysplasia	1	1	HNF1B (6)	0.25000	1.00000	1.948e-4	5.278e-4	145
Chromosome 8p23.1 monosomy	Renal cysts and diabetes syndrome	1	0	GATA4 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Retinal vasculopathy with cerebral leukodystrophy	Type i interferonopathy	1	1	TREX1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	159
Retinal vasculopathy with cerebral leukodystrophy	TREX1-related type 1 interferonopathy	1	1	TREX1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	159
Retinal vasculopathy with cerebral leukodystrophy	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	1	1	TREX1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	159
Bone osteosarcoma	Retinoblastoma	1	1	RB1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Rh deficiency syndrome	Rh-null, regulator type	1	1	RHAG (5)	0.25000	1.00000	1.948e-4	5.278e-4	306
Rh deficiency syndrome	Rh-null, amorph type	1	1	RHCE (4)	0.25000	1.00000	1.948e-4	5.278e-4	306
rhabdoid tumor predisposition syndrome 1	Schwannomatosis	1	1	SMARCB1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	299
Riboflavin deficiency	Riboflavin transporter deficiency	1	1	SLC52A1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Right atrial isomerism	Right isomerism	1	1	GDF1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	56
Emery dreifuss muscular dystrophy	Right ventricular cardiomyopathy	1	1	LMNA (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Rigid spine muscular dystrophy	Zebra body myopathy	1	1	ACTA1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Rigid spine muscular dystrophy	SELENON-related myopathy	1	1	SELENON (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Achondroplasia	Saethre-chotzen syndrome	1	1	FGFR3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Lacrimoauriculodentodigital syndrome	Salivary gland agenesis	1	1	FGF10 (5)	0.25000	1.00000	1.948e-4	5.278e-4	321
Ladd syndrome	Salivary gland agenesis	1	1	FGF10 (2)	0.25000	1.00000	1.948e-4	5.278e-4	321
Malnutrition	Microvascular angina	1	1	MTHFR (2)	0.25000	1.00000	1.948e-4	5.278e-4	
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Malnutrition	1	1	MTHFR (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Mandibuloacral dysostosis	mandibuloacral dysplasia progeroid syndrome	1	1	MTX2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	83
Emery dreifuss muscular dystrophy	Mandibuloacral dysostosis	1	1	LMNA (3)	0.25000	1.00000	1.948e-4	5.278e-4	83
Mandibuloacral dysostosis	Severe lipodystrophic laminopathy	1	1	LMNA (3)	0.25000	1.00000	1.948e-4	5.278e-4	83
Mandibuloacral dysostosis	mandibuloacral dysplasia with type b lipodystrophy	1	1	ZMPSTE24 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
maple syrup urine disease type 1A	Thiamine-responsive maple syrup urine disease	1	1	BCKDHA (3)	0.25000	1.00000	1.948e-4	5.278e-4	404
maple syrup urine disease type 1B	Thiamine-responsive maple syrup urine disease	1	1	BCKDHB (3)	0.25000	1.00000	1.948e-4	5.278e-4	404
maternal riboflavin deficiency	Riboflavin transporter deficiency	1	1	SLC52A1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis-intellectual disability syndrome	MED12-related intellectual disability syndrome	1	1	MED12 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
melanoma, cutaneous malignant, susceptibility to, 3	Well-differentiated liposarcoma	1	1	CDK4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	361
methionine adenosyltransferase deficiency	S-adenosylhomocysteine hydrolase deficiency	1	1	MAT1A (2)	0.25000	1.00000	1.948e-4	5.278e-4	112
Malnutrition	methylcobalamin deficiency type cblG	1	1	MTR (3)	0.25000	1.00000	1.948e-4	5.278e-4	155
microcephaly with lissencephaly and/or hydranencephaly	Microlissencephaly	1	1	NDE1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Microhydranencephaly	Microlissencephaly	1	1	NDE1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
mirror movements 1 and/or agenesis of the corpus callosum	Partial agenesis of corpus callosum	1	1	DCC (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Mitochondrial hepatopathy	Schilder disease	1	1	POLG (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Mitochondrial hepatopathy	perrault syndrome 5	1	1	TWNK (2)	0.25000	1.00000	1.948e-4	5.278e-4	181
mitochondrial trifunctional protein deficiency	Trifunctional protein deficiency	1	1	HADHB (2)	0.25000	1.00000	1.948e-4	5.278e-4	
mucopolysaccharidosis type 1	Pfaundler-hurler syndrome	1	1	IDUA (2)	0.25000	1.00000	1.948e-4	5.278e-4	300
Multicystic dysplastic kidney	Renal cysts and diabetes syndrome	1	1	HNF1B (7)	0.25000	1.00000	1.948e-4	5.278e-4	145
Multiminicore myopathy	Myosin storage myopathy	1	1	MYH7 (2)	0.25000	1.00000	1.948e-4	5.278e-4	104
Biventricular noncompaction cardiomyopathy	Multiminicore myopathy	1	1	MYH7 (2)	0.25000	1.00000	1.948e-4	5.278e-4	104
Multiminicore myopathy	MYH7-related skeletal myopathy	1	1	MYH7 (3)	0.25000	1.00000	1.948e-4	5.278e-4	104
dilated cardiomyopathy 1S	Multiminicore myopathy	1	1	MYH7 (3)	0.25000	1.00000	1.948e-4	5.278e-4	104
Multiminicore myopathy	Progressive contractures limb-girdle weakness muscle dystrophy syndrome	1	1	TTN (3)	0.25000	1.00000	1.948e-4	5.278e-4	
multiple endocrine neoplasia type 1	Vipoma	1	1	MEN1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Kenny-caffey syndrome	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	1	1	B3GALNT2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	222
Myoclonus-renal failure syndrome	Unverricht-lundborg syndrome	1	1	SCARB2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	339
Hyperkalemic periodic paralysis	Myotonia congenita	1	1	CLCN1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Neonatal convulsions	Sensorineural hearing loss thrombocytopenia syndrome	1	1	DIAPH1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	157
Neonatal convulsions	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	1	1	DIAPH1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	157
Neonatal convulsions	Schilder disease	1	1	POLG (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Neovascular inflammatory vitreoretinopathy	Vitreoretinopathy	1	1	CAPN5 (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Nephropathic cystinosis	Ocular cystinosis	1	1	CTNS (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Neurofibrosarcoma	Schimmelpenning-feuerstein-mims syndrome	1	1	NRAS (2)	0.25000	1.00000	1.948e-4	5.278e-4	17
neurometabolic disorder due to serine deficiency	Phosphoserine phosphatase deficiency	1	1	PSPH (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Neuropathic spinal arthropathy	Rupture, spontaneous	1	1	COL5A1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Neuropathic spinal arthropathy	Simpson syndrome	1	1	KAT6B (2)	0.25000	1.00000	1.948e-4	5.278e-4	
NF2-related schwannomatosis	Schwannomatosis	1	1	NF2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	299
Mandibuloacral dysostosis	obsolete lethal restrictive dermopathy	1	1	ZMPSTE24 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	Xerocytosis	1	1	PIEZO1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	431
Oropharyngeal dysphagia	Spinocerebellar ataxia, x-linked	1	1	ATP2B3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	422
Osteolysis, hereditary multicentric	Torg-winchester syndrome	1	1	MMP2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Osteoma cutis	Primary bilateral macronodular adrenal hyperplasia	1	1	GNAS (2)	0.25000	1.00000	1.948e-4	5.278e-4	
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Primary bilateral macronodular adrenal hyperplasia	1	1	KDM1A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Palmoplantar keratoderma and congenital alopecia	Perniola krajewska carnevale syndrome	1	1	LSS (3)	0.25000	1.00000	1.948e-4	5.278e-4	386
pancreatic agenesis 1	Partial pancreatic agenesis	1	1	PDX1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Pancreatic beta-cell agenesis with neonatal diabetes mellitus	Partial pancreatic agenesis	1	0	PTF1A (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Papillorenal syndrome	Renal cysts and diabetes syndrome	1	1	PAX2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Parkinsonism-dystonia	SLC6A3-related dopamine transporter deficiency syndrome	1	1	SLC6A3 (5)	0.25000	1.00000	1.948e-4	5.278e-4	336
Partial agenesis of corpus callosum	Preaxial polydactyly with upper back hypertrichosis	1	1	SHH (2)	0.25000	1.00000	1.948e-4	5.278e-4	230
Partial agenesis of corpus callosum	Skeletal system disorder	1	0	SHH (1)	0.25000	1.00000	1.948e-4	5.278e-4	230
Pelizaeus-Merzbacher spectrum disorder	Spastic paraplegia, x-linked	1	1	PLP1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	434
Peptic esophagitis	Vitamin d deficiency	1	1	VDR (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Periportal fibrosis	Ventricular hypertrophy	1	0	PKHD1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	74
Desmoid tumor	gastric adenocarcinoma and proximal polyposis of the stomach	1	1	APC (7)	0.25000	1.00000	1.948e-4	5.278e-4	37
Gastrointestinal defects and immunodeficiency syndrome	Multiple intestinal atresia	1	1	TTC7A (6)	0.25000	1.00000	1.948e-4	5.278e-4	269
Gastroschisis	Salt-sensitive hypertension	1	0	ADD1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	Partial pancreatic agenesis	1	1	GATA6 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital pectus carinatum	Geleophysic dysplasia	1	1	FBN1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	28
Coronary artery dissection	Geleophysic dysplasia	1	1	FBN1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	28
Genetic hemolytic uremic syndrome	Thrombotic microangiopathy	1	0	CFH (1)	0.25000	1.00000	1.948e-4	5.278e-4	32
atypical hemolytic-uremic syndrome	Genetic hemolytic uremic syndrome	1	1	CFH (2)	0.25000	1.00000	1.948e-4	5.278e-4	32
Genetic infertility	Olmsted syndrome	1	1	SPATA22 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Genetic neurodegenerative disease	inherited neurodegenerative disorder	1	1	KIF5A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Giant cell tumor of tendon sheath	Renal cysts and diabetes syndrome	1	1	HNF1B (6)	0.25000	1.00000	1.948e-4	5.278e-4	145
Glucocorticoid deficiency with achalasia	Intellectual developmental disorder movement cerebellar	1	1	TRAPPC11 (3)	0.25000	1.00000	1.948e-4	5.278e-4	383
Glycine n-methyltransferase deficiency	S-adenosylhomocysteine hydrolase deficiency	1	1	GNMT (5)	0.25000	1.00000	1.948e-4	5.278e-4	112
Glycine n-methyltransferase deficiency	Sulfur amino acid metabolism disorder	1	1	GNMT (5)	0.25000	1.00000	1.948e-4	5.278e-4	112
Glycine n-methyltransferase deficiency	Hepatic methionine adenosyltransferase deficiency	1	1	GNMT (5)	0.25000	1.00000	1.948e-4	5.278e-4	112
Avascular necrosis of femoral head	GNPTAB-mucolipidosis	1	1	GNPTAB (2)	0.25000	1.00000	1.948e-4	5.278e-4	15
greig cephalopolysyndactyly syndrome	White sutton syndrome	1	1	GLI3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	192
Griscelli syndrome	Griscelli syndrome type 2	1	1	RAB27A (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Griscelli syndrome	Griscelli syndrome type 1	1	1	MYO5A (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Growth retardation, mild developmental delay, chronic hepatitis syndrome	Polycythemia, primary familial and congenital	1	1	SH2B3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Hairy cell leukemia	Ventricular hypertrophy	1	1	BRAF (2)	0.25000	1.00000	1.948e-4	5.278e-4	
hartnup disease	Hyperglycinuria	1	1	SLC6A19 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Alpha thalassemia	HBA1-related alpha thalassemia spectrum	1	1	HBA1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	24
HBA1-related alpha thalassemia spectrum	Hemoglobin barts fetalis syndrome	1	1	HBA1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	24
HBA1-related alpha thalassemia spectrum	Hemoglobin h disease	1	1	HBA1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	24
Alpha thalassemia	HBA2-related alpha thalassemia spectrum	1	1	HBA2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	24
HBA2-related alpha thalassemia spectrum	Hemoglobin barts fetalis syndrome	1	1	HBA2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	24
HBA2-related alpha thalassemia spectrum	Hemoglobin h disease	1	1	HBA2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	24
Benign mucous membrane pemphigoid with ocular involvement	Heerfordt syndrome	1	0	HLA-DRB1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Bouillaud’s disease	Heerfordt syndrome	1	0	HLA-DRB1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Acute disseminated encephalomyelitis	Heerfordt syndrome	1	0	HLA-DRB1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Cardiac tamponade	Hematoma	1	1	PLAT (2)	0.25000	1.00000	1.948e-4	5.278e-4	29
Cooleys anemia	Hemoglobin f disease	1	0	HBB (1)	0.25000	1.00000	1.948e-4	5.278e-4	18
Dominant beta-thalassemia	Hemoglobin f disease	1	1	HBB (4)	0.25000	1.00000	1.948e-4	5.278e-4	18
Hemoglobin c disease	Hemoglobin f disease	1	1	HBB (3)	0.25000	1.00000	1.948e-4	5.278e-4	18
Hemoglobin f disease	Hemoglobinopathy toms river	1	1	HBG2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	18
Hemophilia b carriers	Warfarin sensitivity	1	1	F9 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Hepatic methionine adenosyltransferase deficiency	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	1	1	AHCY (2)	0.25000	1.00000	1.948e-4	5.278e-4	112
Hepatic methionine adenosyltransferase deficiency	methionine adenosyltransferase deficiency	1	1	MAT1A (3)	0.25000	1.00000	1.948e-4	5.278e-4	112
Hepatic vein thrombosis	Microvascular angina	1	1	MTHFR (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Hepatic vein thrombosis	homocystinuria due to methylene tetrahydrofolate reductase deficiency	1	1	MTHFR (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital factor v deficiency	Hepatic vein thrombosis	1	1	F5 (5)	0.25000	1.00000	1.948e-4	5.278e-4	84
East texas bleeding disorder	Hepatic vein thrombosis	1	1	F5 (3)	0.25000	1.00000	1.948e-4	5.278e-4	84
Hereditary arginine vasopressin deficiency	Shy-drager syndrome	1	1	AVP (3)	0.25000	1.00000	1.948e-4	5.278e-4	
hereditary breast carcinoma	microcephaly with intellectual disability	1	0	MCPH1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Episodic kinesigenic dyskinesia	Hereditary continuous muscle fiber activity	1	1	KCNA1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	85
Episodic pain syndrome	hereditary sensory and autonomic neuropathy type 7	1	1	SCN11A (4)	0.25000	1.00000	1.948e-4	5.278e-4	171
Hereditary xerocytosis	obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	1	1	PIEZO1 (7)	0.25000	1.00000	1.948e-4	5.278e-4	431
holoprosencephaly 12 with or without pancreatic agenesis	Vissers-bodmer syndrome	1	1	CNOT1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	95
holoprosencephaly 3	Partial agenesis of corpus callosum	1	1	SHH (2)	0.25000	1.00000	1.948e-4	5.278e-4	230
holoprosencephaly 3	Skeletal system disease	1	1	SHH (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Homocystinuria	Malnutrition	1	1	CBS (5)	0.25000	1.00000	1.948e-4	5.278e-4	
hyper-IgE recurrent infection syndrome 1, autosomal dominant	Hyper-immunoglobulin e syndrome	1	1	STAT3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	167
Hyper-ige syndrome	Hyper-immunoglobulin e syndrome	1	1	STAT3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	167
Hyper-immunoglobulin e syndrome	Lymphoproliferative disorder of natural killer cells	1	1	STAT3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	167
Hyper-immunoglobulin e syndrome	STAT3-related early-onset multisystem autoimmune disease	1	1	STAT3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	167
Hypercalcemic tumoral calcinosis	Intracranial embolism	1	0	KL (1)	0.25000	1.00000	1.948e-4	5.278e-4	351
Hypercalcemic tumoral calcinosis	tumoral calcinosis, hyperphosphatemic, familial, 1	1	1	GALNT3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	351
hypercholesterolemia, autosomal dominant, 3	Hypobetalipoproteinemia	1	1	PCSK9 (2)	0.25000	1.00000	1.948e-4	5.278e-4	201
hypercholesterolemia, autosomal dominant, type B	Hypobetalipoproteinemia	1	1	APOB (4)	0.25000	1.00000	1.948e-4	5.278e-4	201
Dend syndrome	hyperinsulinemic hypoglycemia, familial, 2	1	1	KCNJ11 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Hyperkalemic periodic paralysis	Myotonia	1	1	SCN4A (5)	0.25000	1.00000	1.948e-4	5.278e-4	170
Hyperkalemic periodic paralysis	Potassium-aggravated myotonia	1	1	SCN4A (5)	0.25000	1.00000	1.948e-4	5.278e-4	170
Hyperkalemic periodic paralysis	SCN4A-related myopathy, autosomal recessive	1	1	SCN4A (6)	0.25000	1.00000	1.948e-4	5.278e-4	170
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	S-adenosylhomocysteine hydrolase deficiency	1	1	AHCY (3)	0.25000	1.00000	1.948e-4	5.278e-4	112
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Sulfur amino acid metabolism disorder	1	1	AHCY (2)	0.25000	1.00000	1.948e-4	5.278e-4	112
Hyperoxia	Patent ductus venosus	1	1	AHR (2)	0.25000	1.00000	1.948e-4	5.278e-4	203
Hyperoxia	Ureteral neoplasms	1	0	AHR (1)	0.25000	1.00000	1.948e-4	5.278e-4	203
Hyperoxia	Urinary bladder calculi	1	0	AHR (1)	0.25000	1.00000	1.948e-4	5.278e-4	203
Hyperoxia	Urinary bladder stone	1	1	AHR (2)	0.25000	1.00000	1.948e-4	5.278e-4	203
Hyperoxia	TNF receptor 1-associated periodic fever syndrome	1	1	TNFRSF1A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Hyperphenylalaninemia	Phenylketonuria	1	1	PAH (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Hyperphenylalaninemia	Tetrahydrobiopterin-responsive phenylketonuria	1	1	PAH (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Hyperphosphatemic tumoral calcinosis	Intracranial embolism	1	1	KL (2)	0.25000	1.00000	1.948e-4	5.278e-4	351
Hyperphosphatemic tumoral calcinosis	tumoral calcinosis, hyperphosphatemic, familial, 1	1	1	GALNT3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	351
Dystransthyretinemic euthyroidal hyperthyroxinemia	Hyperthyroxinemia	1	1	TTR (4)	0.25000	1.00000	1.948e-4	5.278e-4	185
Hyperthyroxinemia	Senile systemic amyloidosis	1	1	TTR (3)	0.25000	1.00000	1.948e-4	5.278e-4	185
Hyperthyroxinemia	Transthyretin amyloid cardiomyopathy	1	1	TTR (3)	0.25000	1.00000	1.948e-4	5.278e-4	185
Hyperthyroxinemia	Wild-type transthyretin-related amyloidosis	1	1	TTR (3)	0.25000	1.00000	1.948e-4	5.278e-4	185
Hyperthyroxinemia	obsolete hereditary ATTR amyloidosis	1	1	TTR (3)	0.25000	1.00000	1.948e-4	5.278e-4	185
Anuria	hyperthyroxinemia, familial dysalbuminemic	1	1	ALB (3)	0.25000	1.00000	1.948e-4	5.278e-4	314
Hypocalcemic vitamin d-dependent rickets	Peptic esophagitis	1	1	VDR (2)	0.25000	1.00000	1.948e-4	5.278e-4	342
Hypocalcemic vitamin d-dependent rickets	vitamin D-dependent rickets, type 1A	1	1	CYP27B1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	342
Hypocalciuric hypercalcemia	neonatal severe primary hyperparathyroidism	1	1	CASR (7)	0.25000	1.00000	1.948e-4	5.278e-4	210
hypoplasminogenemia	Leukocyte disorders	1	1	PLG (3)	0.25000	1.00000	1.948e-4	5.278e-4	246
ichthyosiform erythroderma, corneal involvement, and hearing loss	Keratitis-ichthyosis-deafness syndrome	1	1	AP1B1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	68
IFIH1-related type 1 interferonopathy	Selective immunoglobulin a deficiency	1	1	IFIH1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	369
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Insulin dependent diabetes mellitus secretory diarrhea syndrome	1	1	FOXP3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
immunodeficiency 123 with hpv-related verrucosis	Mycosis fungoides	1	1	CD28 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
immunodeficiency 14	Roifman syndrome	1	1	PIK3CD (4)	0.25000	1.00000	1.948e-4	5.278e-4	375
immunodeficiency 14b, autosomal recessive	Roifman syndrome	1	1	PIK3CD (4)	0.25000	1.00000	1.948e-4	5.278e-4	375
Episodic kinesigenic dyskinesia	infantile convulsions and choreoathetosis	1	1	PRRT2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	85
Insulin dependent diabetes mellitus secretory diarrhea syndrome	ritscher-schinzel syndrome 2	1	1	CCDC22 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Insulinomatosis and diabetes mellitus	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	1	1	MAFA (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Intellectual developmental disorder behavioral dysmorphic	Potocki-shaffer syndrome	1	1	PHF21A (5)	0.25000	1.00000	1.948e-4	5.278e-4	108
Intellectual developmental disorder dysmorphic strabismus	Intellectual disability with strabismus syndrome	1	1	ADAT3 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Intellectual developmental disorder microcephaly strabismus behaviora	White sutton syndrome	1	1	POGZ (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Intellectual developmental disorder movement cerebellar	Triple a syndrome	1	1	TRAPPC11 (3)	0.25000	1.00000	1.948e-4	5.278e-4	383
Benign fasciculation-cramp syndrome	Episodic pain syndrome	1	1	TRPA1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Benign paroxysmal torticollis of infancy	Bulbar palsy	1	1	CACNA1A (2)	0.25000	1.00000	1.948e-4	5.278e-4	55
Bent bone dysplasia	Campomelic dysplasia	1	1	SOX9 (6)	0.25000	1.00000	1.948e-4	5.278e-4	164
Bent bone dysplasia	Camptomelic dysplasia	1	1	SOX9 (2)	0.25000	1.00000	1.948e-4	5.278e-4	164
Bent bone dysplasia	Cooks syndrome	1	1	SOX9 (3)	0.25000	1.00000	1.948e-4	5.278e-4	164
Bent bone dysplasia	isolated Pierre-Robin syndrome	1	1	SOX9 (2)	0.25000	1.00000	1.948e-4	5.278e-4	164
Ankylosis	Bent bone dysplasia	1	1	FGFR2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Beta-hexosaminidase a deficiency	Tay-sachs disease	1	1	HEXA (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Beta-hydroxyisobutyryl-coa deacylase deficiency	X-linked hereditary sensory and autonomic neuropathy with deafness	1	1	AIFM1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	367
Beta-hydroxyisobutyryl-coa deacylase deficiency	X-linked hereditary sensory and autonomic neuropathy with hearing loss	1	1	AIFM1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	367
BH4-deficient hyperphenylalaninemia A	Hyperphenylalaninemia	1	1	PTS (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bietti crystalline corneoretinal dystrophy	Congenital prekallikrein deficiency	1	1	KLKB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bietti crystalline corneoretinal dystrophy	inherited prekallikrein deficiency	1	1	KLKB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bilateral frontoparietal polymicrogyria	Bilateral perisylvian polymicrogyria	1	1	ADGRG1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	269
Bilateral multicystic dysplastic kidney	Renal cysts and diabetes syndrome	1	1	HNF1B (7)	0.25000	1.00000	1.948e-4	5.278e-4	145
Bile duct cancer	Intellectual developmental disorder dysmorphic brain	1	1	TRAPPC9 (4)	0.25000	1.00000	1.948e-4	5.278e-4	394
Bile duct cancer	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	1	1	TRAPPC9 (2)	0.25000	1.00000	1.948e-4	5.278e-4	394
Ankylosis	Biliary tract neoplasms	1	0	FGFR2 (1)	0.25000	1.00000	1.948e-4	5.278e-4	38
Beare-stevenson cutis gyrata syndrome	Biliary tract neoplasms	1	1	FGFR2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	38
Biliary tract neoplasms	Cutis gyrata syndrome	1	1	FGFR2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	38
bent bone dysplasia syndrome 1	Biliary tract neoplasms	1	1	FGFR2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	38
Bleeding esophageal varices	Vipoma	1	1	SST (2)	0.25000	1.00000	1.948e-4	5.278e-4	340
Blepharophimosis syndrome	Simpson syndrome	1	1	KAT6B (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis syndrome	KAT6B-related multiple congenital anomalies syndrome	1	1	KAT6B (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis syndrome	Cholestasis-pigmentary retinopathy-cleft palate syndrome	1	1	MED12 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis syndrome	MED12-related intellectual disability syndrome	1	1	MED12 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis-intellectual disability syndrome	intellectual disability-sparse hair-brachydactyly syndrome	1	1	SMARCA2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis-intellectual disability syndrome	Simpson syndrome	1	1	KAT6B (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis-intellectual disability syndrome	KAT6B-related multiple congenital anomalies syndrome	1	1	KAT6B (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis-intellectual disability syndrome	Cholestasis-pigmentary retinopathy-cleft palate syndrome	1	1	MED12 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Blepharophimosis syndrome	Blepharophimosis-ptosis-epicanthus inversus syndrome	1	1	FOXL2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Blue cone monochromatism	Tritanopia	1	1	OPN1SW (5)	0.25000	1.00000	1.948e-4	5.278e-4	217
Blue cone monochromatism	red color blindness	1	1	OPN1LW (5)	0.25000	1.00000	1.948e-4	5.278e-4	217
Blue cone monochromatism	red-green color blindness	1	1	OPN1MW (5)	0.25000	1.00000	1.948e-4	5.278e-4	217
Bnar syndrome	Trigonocephaly	1	1	FREM1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	139
Body skin hyperlaxity	Combined deficiency of vitamin k-dependent clotting factors	1	1	GGCX (7)	0.25000	1.00000	1.948e-4	5.278e-4	417
Bohring-opitz-like syndrome	Cold-induced sweating syndrome	1	1	KLHL7 (3)	0.25000	1.00000	1.948e-4	5.278e-4	343
Bohring-opitz-like syndrome	Crisponi syndrome	1	1	KLHL7 (3)	0.25000	1.00000	1.948e-4	5.278e-4	343
bone marrow failure syndrome 3	Congenital bone marrow failure syndrome	1	1	DNAJC21 (3)	0.25000	1.00000	1.948e-4	5.278e-4	319
bone marrow failure syndrome 6	Pfeiffer syndrome	1	1	MDM4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	38
Bone osteosarcoma	CHEK2-related cancer predisposition	1	1	CHEK2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Adrenocortical carcinoma	Bone osteosarcoma	1	1	TP53 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bone osteosarcoma	Choroid plexus carcinoma	1	1	TP53 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Bor syndrome	Cayler cardiofacial syndrome	1	1	EYA1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	134
Brachydactyly-syndactyly syndrome	Synpolydactyly	1	1	HOXD13 (6)	0.25000	1.00000	1.948e-4	5.278e-4	111
Brachymesophalangy	Synpolydactyly	1	1	HOXD13 (5)	0.25000	1.00000	1.948e-4	5.278e-4	111
Brachyolmia	Congenital benign spinal muscular atrophy	1	1	TRPV4 (5)	0.25000	1.00000	1.948e-4	5.278e-4	218
Brachyolmia	Brachyrachia	1	1	TRPV4 (6)	0.25000	1.00000	1.948e-4	5.278e-4	218
Brachyolmia	Digital arthropathy-brachydactyly, familial	1	1	TRPV4 (5)	0.25000	1.00000	1.948e-4	5.278e-4	218
Brachyolmia	Parastremmatic dwarfism	1	1	TRPV4 (7)	0.25000	1.00000	1.948e-4	5.278e-4	218
Brachyolmia	Scapuloperoneal spinal muscular atrophy	1	1	TRPV4 (6)	0.25000	1.00000	1.948e-4	5.278e-4	218
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome	Congenital palmoplantar and perioral keratoderma of olmsted	1	0	MBTPS2 (1)	0.25000	1.00000	1.948e-4	5.278e-4	346
brain dopamine-serotonin vesicular transport disease	Parkinsonism-dystonia	1	1	SLC18A2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	336
Brain malformations	Chromosome 1p32-p31 deletion syndrome	1	1	NFIA (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Brain malformations	brain malformations with or without urinary tract defects	1	1	NFIA (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Brain malformations	Zhu-tokita-takenouchi-kim syndrome	1	1	SON (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Brain malformations	zttk syndrome	1	1	SON (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Brain tumor-polyposis syndrome	Desmoid tumor	1	1	APC (6)	0.25000	1.00000	1.948e-4	5.278e-4	37
Branchial arch abnormalities syndrome	Vissers-bodmer syndrome	1	1	KMT2D (3)	0.25000	1.00000	1.948e-4	5.278e-4	95
Branchial cleft anomalies	Vissers-bodmer syndrome	1	0	KMT2D (1)	0.25000	1.00000	1.948e-4	5.278e-4	95
Bresek syndrome	Congenital palmoplantar and perioral keratoderma of olmsted	1	1	MBTPS2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	346
Brown tendon sheath syndrome	Whispering dysphonia	1	1	TUBB4A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Brown tendon sheath syndrome	TUBB4A-related neurologic disorder	1	1	TUBB4A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Brown tendon sheath syndrome	Osteolysis, hereditary, of carpal bones with or without nephropathy	1	0	MAFB (1)	0.25000	1.00000	1.948e-4	5.278e-4	
brown-vialetto-van laere syndrome 1	Bulbar palsy	1	1	SLC52A3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
brown-vialetto-van laere syndrome 1	Riboflavin transporter deficiency	1	1	SLC52A3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
brown-vialetto-van laere syndrome 2	Riboflavin transporter deficiency	1	1	SLC52A2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bruck syndrome	ehlers-danlos syndrome, cardiac valvular type	1	1	COL1A2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bruck syndrome	COL1A2-related Ehlers-Danlos syndrome	1	1	COL1A2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bruck syndrome	COL1A2-related osteogenesis imperfecta	1	1	COL1A2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bruxism	CDKL5 disorder	1	1	CDKL5 (2)	0.25000	1.00000	1.948e-4	5.278e-4	55
Bruxism	Central apnea	1	0	MECP2 (1)	0.25000	1.00000	1.948e-4	5.278e-4	55
Bruxism	Neonatal encephalopathy	1	1	MECP2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	55
Bulbar palsy	Central apnea	1	0	MECP2 (1)	0.25000	1.00000	1.948e-4	5.278e-4	55
Bulbar palsy	Neonatal encephalopathy	1	1	MECP2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	55
Burnett schwartz berberian syndrome	Keratosis follicularis spinulosa decalvans	1	1	LRP1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	247
C1q deficiency	systemic lupus erythematosus related to C1QA	1	1	C1QA (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Café-au-lait macules	Schwannomatosis	1	1	LZTR1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	Dyschromatosis symmetrica hereditaria	1	1	SASH1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	378
Cap myopathy	MYPN-related myopathy	1	1	MYPN (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Cap myopathy	dilated cardiomyopathy 1KK	1	1	MYPN (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Cap myopathy	TPM2-related myopathy	1	1	TPM2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Cap myopathy	Congenital generalized hypercontractile muscle stiffness syndrome	1	1	TPM3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Cap myopathy	TPM3-related myopathy	1	1	TPM3 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Capillary infantile hemangioma	Growth retardation, alopecia, pseudoanodontia and optic atrophy	1	1	ANTXR1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Capillary infantile hemangioma	gapo syndrome	1	1	ANTXR1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Capillary infantile hemangioma	congenital heart defects, multiple types, 7	1	1	FLT4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Capillary infantile hemangioma	lymphatic malformation 1	1	1	FLT4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Capillary malformation	Clapo syndrome	1	1	PIK3CA (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Capillary malformation	Cloves syndrome	1	1	PIK3CA (4)	0.25000	1.00000	1.948e-4	5.278e-4	
CAPN5-related vitreoretinopathy	Vitreoretinopathy	1	1	CAPN5 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Carasil syndrome	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	1	1	HTRA1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
ciliary dyskinesia, primary, 44	Pericardium disorder	1	1	NEK10 (2)	0.25000	1.00000	1.948e-4	5.278e-4	279
Citrin deficiency	Citrullinemia	1	1	SLC25A13 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Citrullinemia	citrullinemia type I	1	1	ASS1 (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Citrullinemia	ornithine translocase deficiency	1	1	SLC25A15 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
classic homocystinuria	Malnutrition	1	1	CBS (3)	0.25000	1.00000	1.948e-4	5.278e-4	
classic or attenuated familial adenomatous polyposis	Desmoid tumor	1	1	APC (7)	0.25000	1.00000	1.948e-4	5.278e-4	37
Cleft palate psychomotor retardation distinctive facial features	Primary bilateral macronodular adrenal hyperplasia	1	1	KDM1A (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Cleidocranial dysplasia	cleidocranial dysplasia 2	1	1	CBFB (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Clonal cytopenia of undetermined significance	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	1	1	RUNX1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Clonal cytopenia of undetermined significance	Microcephalic dwarfism	1	1	DNMT3A (2)	0.25000	1.00000	1.948e-4	5.278e-4	338
Clonal cytopenia of undetermined significance	heyn-sproul-jackson syndrome	1	1	DNMT3A (2)	0.25000	1.00000	1.948e-4	5.278e-4	338
Clonal cytopenia of undetermined significance	Tatton-Brown-Rahman overgrowth syndrome	1	1	DNMT3A (2)	0.25000	1.00000	1.948e-4	5.278e-4	338
Clouston syndrome	Keratitis-ichthyosis-deafness syndrome	1	1	GJB6 (4)	0.25000	1.00000	1.948e-4	5.278e-4	68
Clouston syndrome	Hearing loss with stapes fixation	1	1	GJB6 (5)	0.25000	1.00000	1.948e-4	5.278e-4	68
Clouston syndrome	X-linked hearing loss with perilymphatic gusher	1	1	GJB6 (4)	0.25000	1.00000	1.948e-4	5.278e-4	68
Colchicine resistance	Orthostatic hypotension	1	1	ABCB1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	120
Cold-induced sweating syndrome	Perching syndrome	1	1	KLHL7 (5)	0.25000	1.00000	1.948e-4	5.278e-4	343
collagen 6-related myopathy	dystonia 27	1	0	COL6A3 (1)	0.25000	1.00000	1.948e-4	5.278e-4	307
Collagen vi muscular dystrophy	dystonia 27	1	1	COL6A3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	307
Bouillaud’s disease	Collagenous colitis	1	1	HLA-DQA1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	1
Collagenous colitis	Skeletal system disease	1	0	HLA-DQA1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	1
Collagenous colitis	Wheat allergic reaction	1	0	HLA-DQA1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	1
Combined deficiency of sialidase and beta galactosidase	Galactosialidosis	1	1	CTSA (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Combined deficiency of vitamin k-dependent clotting factors	vitamin K-dependent clotting factors, combined deficiency of, type 2	1	1	VKORC1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	417
Combined deficiency of vitamin k-dependent clotting factors	vitamin K-dependent clotting factors, combined deficiency of, type 1	1	1	GGCX (6)	0.25000	1.00000	1.948e-4	5.278e-4	417
combined immunodeficiency due to DOCK8 deficiency	Insulin dependent diabetes mellitus secretory diarrhea syndrome	1	1	DOCK8 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Combined immunodeficiency with granulomatosis	recombinase activating gene 1 deficiency	1	1	RAG1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	176
Combined immunodeficiency with granulomatosis	recombinase activating gene 2 deficiency	1	1	RAG2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	176
Combined immunodeficiency, enteropathy spectrum	factor 5 and Factor VIII, combined deficiency of, 2	1	1	MCFD2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Combined immunodeficiency, enteropathy spectrum	Multiple intestinal atresia	1	1	TTC7A (3)	0.25000	1.00000	1.948e-4	5.278e-4	269
Combined oxidative phosphorylation defect	Parkinsonism-dystonia	1	1	WARS2 (4)	0.25000	1.00000	1.948e-4	5.278e-4	336
Concentric hypertrophic cardiomyopathy	Timothy syndrome	1	1	CACNA1C (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital blindness	GUCY2D-related dominant retinopathy	1	1	GUCY2D (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital blindness	GUCY2D-related recessive retinopathy	1	1	GUCY2D (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital blindness	Retinitis pigmentosa with choroidal involvement	1	1	RPE65 (4)	0.25000	1.00000	1.948e-4	5.278e-4	400
Congenital blindness	RPE65-related recessive retinopathy	1	1	RPE65 (2)	0.25000	1.00000	1.948e-4	5.278e-4	400
Congenital blindness	RPE65-related dominant retinopathy	1	1	RPE65 (2)	0.25000	1.00000	1.948e-4	5.278e-4	400
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	1	1	SLC25A4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	276
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome	Triokinase and fmn cyclase deficiency	1	1	TKFC (5)	0.25000	1.00000	1.948e-4	5.278e-4	276
Congenital disorder of deglycosylation	congenital disorder of deglycosylation 2	1	1	MAN2C1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital disorder of deglycosylation	congenital disorder of deglycosylation 1	1	1	NGLY1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital facial anomaly	Thauvin-robinet-faivre syndrome	1	1	FIBP (3)	0.25000	1.00000	1.948e-4	5.278e-4	347
Congenital facial anomaly	developmental and epileptic encephalopathy, 50	1	1	CAD (2)	0.25000	1.00000	1.948e-4	5.278e-4	347
Congenital factor v deficiency	Venous hypertension	1	1	F5 (4)	0.25000	1.00000	1.948e-4	5.278e-4	84
Congenital factor vii deficiency	Hematoma	1	1	F7 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
carnitine palmitoyl transferase 1A deficiency	Carnitine palmitoyltransferase deficiency	1	1	CPT1A (7)	0.25000	1.00000	1.948e-4	5.278e-4	
carnitine palmitoyl transferase 1A deficiency	Fatty acid metabolism disorder	1	1	CPT1A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Carnitine palmitoyltransferase deficiency	carnitine palmitoyltransferase II deficiency	1	1	CPT2 (8)	0.25000	1.00000	1.948e-4	5.278e-4	
Carpenter syndrome	RAB23-related Carpenter syndrome	1	1	RAB23 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Carpenter syndrome	MEGF8-related Carpenter syndrome	1	1	MEGF8 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Carvajal syndrome	Right ventricular cardiomyopathy	1	1	DSP (2)	0.25000	1.00000	1.948e-4	5.278e-4	206
Castleman disease	Intracranial arteriovenous malformation	1	1	IL6 (2)	0.25000	1.00000	1.948e-4	5.278e-4	248
Cataract-alopecia-sclerodactyly syndrome	Perniola krajewska carnevale syndrome	1	0	LSS (1)	0.25000	1.00000	1.948e-4	5.278e-4	386
Cataract-multisystem syndrome	Dkc1-related disorder	1	1	DKC1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	393
Cataract-multisystem syndrome	dyskeratosis congenita, x-linked	1	1	DKC1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	393
Cataract-multisystem syndrome	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	1	1	NOP10 (4)	0.25000	1.00000	1.948e-4	5.278e-4	393
Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy	Galactosialidosis	1	1	CTSA (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Caveolinopathy	Chromosome 3p25 monosomy	1	1	CAV3 (3)	0.25000	1.00000	1.948e-4	5.278e-4	349
Caveolinopathy	Rippling muscle disease	1	1	CAV3 (8)	0.25000	1.00000	1.948e-4	5.278e-4	349
CBL-related disorder	Early onset vitamin b6 dependent epilepsy	1	1	CBL (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Central centrifugal cicatricial alopecia	Uncombable hair syndrome	1	1	PADI3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Central hypoventilation syndrome	central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	1	1	PHOX2B (5)	0.25000	1.00000	1.948e-4	5.278e-4	331
CEP290-related ciliopathy	Congenital kidney anomaly	1	1	CEP290 (2)	0.25000	1.00000	1.948e-4	5.278e-4	48
Cerebellar ataxia with deafness and narcolepsy	Dominantly inherited sensory neuropathy	1	1	DNMT1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	332
Cerebellar ataxia, deafness, and narcolepsy	Dominantly inherited sensory neuropathy	1	1	DNMT1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	332
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar hypoplasia	1	1	VLDLR (2)	0.25000	1.00000	1.948e-4	5.278e-4	260
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	1	1	VLDLR (3)	0.25000	1.00000	1.948e-4	5.278e-4	260
Cerebellar cortical atrophy	Griscelli syndrome	1	1	MYO5A (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral arterial disease	Cerebral artery occlusion	1	0	ADGRE3 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	inherited thrombocytopenia	1	1	NOTCH3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	374
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	1	1	NOTCH3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	374
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	1	1	NOTCH3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	374
Cerebral creatine deficiency syndrome	fanconi renotubular syndrome 1	1	1	GATM (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral creatine deficiency syndrome	Guanidinoacetate methyltransferase deficiency	1	1	GAMT (3)	0.25000	1.00000	1.948e-4	5.278e-4	380
Cerebral embolism	Hyperphosphatemic tumoral calcinosis	1	1	KL (2)	0.25000	1.00000	1.948e-4	5.278e-4	351
Cerebral embolism	Hypercalcemic tumoral calcinosis	1	0	KL (1)	0.25000	1.00000	1.948e-4	5.278e-4	351
Cerebral sinovenous thrombosis	Congenital factor ii deficiency	1	1	F2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	408
Cerebral sinovenous thrombosis	Congenital prothrombin deficiency	1	1	F2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	408
Cerebral sinovenous thrombosis	thrombophilia due to thrombin defect	1	1	F2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	408
Cerebral sinovenous thrombosis	Congenital factor v deficiency	1	1	F5 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral sinovenous thrombosis	East texas bleeding disorder	1	1	F5 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Cardiac tamponade	Cerebral thrombosis	1	1	PLAT (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral thrombosis	Craniocerebral trauma	1	1	SERPINC1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral thrombosis	Hereditary antithrombin deficiency	1	1	SERPINC1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral thrombosis	hereditary von Willebrand disease	1	1	VWF (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral venous sinus thrombosis	quebec platelet disorder	1	1	PLAU (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Cerebral venous sinus thrombosis	Congenital factor v deficiency	1	1	F5 (6)	0.25000	1.00000	1.948e-4	5.278e-4	84
Cerebral venous sinus thrombosis	East texas bleeding disorder	1	1	F5 (4)	0.25000	1.00000	1.948e-4	5.278e-4	84
Cerebral venous sinus thrombosis	thrombophilia due to activated protein c resistance	1	1	F5 (3)	0.25000	1.00000	1.948e-4	5.278e-4	84
Cerebral venous sinus thrombosis	protein S deficiency	1	1	PROS1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	84
Cerebrofaciothoracic dysplasia	Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome	1	1	TMCO1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	418
Charcot-Marie-Tooth disease X-linked dominant 1	Spinocerebellar ataxia, x-linked	1	1	GJB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	422
Chilblain lupus	SAMHD1-related type 1 interferonopathy	1	1	SAMHD1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	159
Chilblain lupus	Type i interferonopathy	1	1	TREX1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	159
Chilblain lupus	TREX1-related type 1 interferonopathy	1	1	TREX1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	159
Chilblain lupus	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	1	1	TREX1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	159
Childhood myocerebrohepatopathy spectrum	Neonatal convulsions	1	0	POLG (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Childhood myocerebrohepatopathy spectrum	Mitochondrial hepatopathy	1	0	POLG (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Cholestasis	Osteootohepatoenteric syndrome	1	1	UNC45A (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Chondrocalcinosis	Eye pain	1	1	POMC (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Chondrocalcinosis	Rhabdomyoma	1	1	POMC (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Chondrocalcinosis	Sacroiliitis	1	1	POMC (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Chorioretinopathy with microcephaly	microcephaly and chorioretinopathy 1	1	1	TUBGCP6 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Choroideremia-deafness-obesity syndrome	Deafness, nonsyndromic sensorineural, mitochondrial	1	1	POU3F4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	244
Choroideremia-deafness-obesity syndrome	Hearing loss with stapes fixation	1	1	POU3F4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Chromosome 12p deletion syndrome	Urethral disease	1	1	ERC1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Chromosome 17q21.31 deletion syndrome	koolen-de vries syndrome	1	1	KANSL1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Chromosome 17q21.31 deletion syndrome	Conjunctival telangiectasis	1	0	ATM (1)	0.25000	1.00000	1.948e-4	5.278e-4	364
Chromosome 22q11.2 microduplication syndrome	Shprintzen-goldberg syndrome	1	0	TBX1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Chromosome 3p25 monosomy	Creatine phosphokinase elevation	1	1	CAV3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	349
Chromosome xq21 deletion syndrome	Deafness, nonsyndromic sensorineural, mitochondrial	1	0	POU3F4 (1)	0.25000	1.00000	1.948e-4	5.278e-4	244
Chromosome xq21 deletion syndrome	Hearing loss with stapes fixation	1	1	POU3F4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Chronic pain	Erythromelalgia	1	1	SCN9A (5)	0.25000	1.00000	1.948e-4	5.278e-4	171
Chudley-mccullough syndrome	Neonatal anemia	1	1	SPTB (2)	0.25000	1.00000	1.948e-4	5.278e-4	271
Chudley-mccullough syndrome	Perinatal hemolytic anemia	1	0	SPTB (1)	0.25000	1.00000	1.948e-4	5.278e-4	271
Congenital hypoplasia of aortic arch	Ventricular hypertrophy	1	0	PKHD1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	74
17q23.1q23.2 microdeletion syndrome	Congenital hypoplasia of lung	1	1	TBX4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	27
Amelia	Congenital hypoplasia of lung	1	1	TBX4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	27
Chromosome 17q23.1-q23.2 duplication syndrome	Congenital hypoplasia of lung	1	0	TBX4 (1)	0.25000	1.00000	1.948e-4	5.278e-4	27
Congenital hypoplasia of lung	Coxopodopatellar syndrome	1	1	TBX4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	27
Congenital hypoplasia of lung	Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	1	1	TBX4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	27
Congenital hypoplasia of pancreas	Partial pancreatic agenesis	1	0	PDX1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	X-linked hydrocephalus syndrome	1	1	ATN1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital kidney anomaly	Liver cyst	1	0	PKD1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	48
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Short syndrome	1	1	PIK3R1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	PIK3R1-related immunodeficiency and SHORT syndrome	1	1	PIK3R1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Clapo syndrome	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	1	1	PIK3CA (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital microvillous atrophy	Microvillus inclusion disease	1	1	MYO5B (5)	0.25000	1.00000	1.948e-4	5.278e-4	96
congenital myopathy with myasthenic-like onset	Malignant glioma	1	1	PAX7 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital myotonia	Hyperkalemic periodic paralysis	1	1	CLCN1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital palmoplantar and perioral keratoderma of olmsted	ifap syndrome 1, with or without bresheck syndrome	1	1	MBTPS2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	346
Congenital plasminogen activator inhibitor deficiency type 1	Portal vein thrombosis	1	1	SERPINE1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
congenital plasminogen activator inhibitor type 1 deficiency	Portal vein thrombosis	1	1	SERPINE1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital respiratory system anomaly	Rienhoff syndrome	1	1	TGFB3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Congenital vertebral-cardiac-renal anomalies syndrome	vertebral, cardiac, renal, and limb defects syndrome 2	1	1	KYNU (4)	0.25000	1.00000	1.948e-4	5.278e-4	421
Congenital vertebral-cardiac-renal anomalies syndrome	vertebral, cardiac, renal, and limb defects syndrome 1	1	1	HAAO (4)	0.25000	1.00000	1.948e-4	5.278e-4	421
Conotruncal anomaly face syndrome	Shprintzen-goldberg syndrome	1	0	TBX1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	
Corneal opacity	Deafness with congenital heart defects and posterior embryotoxon	1	1	JAG1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	373
Corneal opacity	Hepatic ductular hypoplasia	1	1	JAG1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	373
Corneal opacity	mucopolysaccharidosis type 4B	1	1	GLB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Corneal opacity	Proximal renal tubular acidosis	1	1	SLC4A4 (4)	0.25000	1.00000	1.948e-4	5.278e-4	373
Achondroplasia	Coronal craniosynostosis	1	1	FGFR3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Camptodactyly, tall stature, and hearing loss syndrome	Coronal craniosynostosis	1	1	FGFR3 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Catshl syndrome	Coronal craniosynostosis	1	1	FGFR3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Cortical dysgenesis with pontocerebellar hypoplasia	X-linked hydrocephalus syndrome	1	1	TUBB3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Corticobasal syndrome	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	1	1	TBK1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Coumarin resistance	vitamin K-dependent clotting factors, combined deficiency of, type 2	1	1	VKORC1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	417
Cramp-fasciculation syndrome	Episodic pain syndrome	1	1	TRPA1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Achondroplasia	Craniofacial dysostosis	1	1	FGFR3 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Craniometaphyseal dysplasia	Palmoplantar keratoderma with congenital alopecia	1	1	GJA1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Craniofacial dysostosis	craniosynostosis 4	1	1	ERF (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Creatine phosphokinase elevation	Rippling muscle disease	1	1	CAV3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	349
Cerebral creatine deficiency syndrome	Creatine transporter deficiency	1	1	SLC6A8 (4)	0.25000	1.00000	1.948e-4	5.278e-4	380
Crisponi syndrome	Perching syndrome	1	1	KLHL7 (5)	0.25000	1.00000	1.948e-4	5.278e-4	343
Cronkhite-canada syndrome	White sutton syndrome	1	0	GLI3 (1)	0.25000	1.00000	1.948e-4	5.278e-4	192
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Desmoid tumor	1	1	CTNNB1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Culler-jones syndrome	White sutton syndrome	1	1	GLI2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
11p11.2 deletion syndrome	Frontonasal dysplasia with alopecia and genital anomaly	1	1	ALX4 (5)	0.25000	1.00000	1.948e-4	5.278e-4	108
11p11.2 deletion syndrome	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	1	1	EXT2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	108
11p11.2 deletion syndrome	exostoses, multiple, type 2	1	1	EXT2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	108
11p11.2 deletion syndrome	Intellectual developmental disorder behavioral dysmorphic	1	1	PHF21A (4)	0.25000	1.00000	1.948e-4	5.278e-4	108
14q11.2 microduplication syndrome	Chromodomain helicase dna binding protein 8 overgrowth syndrome	1	1	CHD8 (2)	0.25000	1.00000	1.948e-4	5.278e-4	280
14q11.2 microduplication syndrome	FOXG1 disorder	1	1	FOXG1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	280
17,20-lyase deficiency	Malignant hypertension	1	1	CYP17A1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
17q21.31 microdeletion syndrome	Chromosome 17q21.31 deletion syndrome	1	1	KANSL1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
1p31p32 microdeletion syndrome	Brain malformations	1	1	NFIA (7)	0.25000	1.00000	1.948e-4	5.278e-4	
3-hydroxyisobutyryl-coa hydrolase deficiency	Beta-hydroxyisobutyryl-coa deacylase deficiency	1	1	HIBCH (5)	0.25000	1.00000	1.948e-4	5.278e-4	367
3-methylglutaconic aciduria type 9	Mitochondrial encephalopathy	1	1	TIMM50 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
3mc syndrome	3mc syndrome 1	1	1	MASP1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	292
3mc syndrome 1	Carnevale syndrome	1	1	MASP1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	292
3mc syndrome 1	Malpuech facial clefting syndrome	1	1	MASP1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	292
46, xy disorder of sex development	NR5A1-related sex development disorder	1	1	NR5A1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	183
Aapoai amyloidosis	Ataxia with vitamin e deficiency	1	1	APOA1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	293
ABCA4-related retinopathy	Bietti crystalline corneoretinal dystrophy	1	1	ABCA4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	150
Abeta amyloidosis	Amyloid neuropathy	1	1	APP (3)	0.25000	1.00000	1.948e-4	5.278e-4	151
Aceruloplasminemia	Ferroxidase deficiency	1	1	CP (4)	0.25000	1.00000	1.948e-4	5.278e-4	188
Achondrogenesis	TRIP11-related skeletal dysplasia	1	1	TRIP11 (2)	0.25000	1.00000	1.948e-4	5.278e-4	190
Achondrogenesis	De la chapelle dysplasia	1	1	SLC26A2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	190
Achondrogenesis	Diastrophic dysplasia	1	1	SLC26A2 (5)	0.25000	1.00000	1.948e-4	5.278e-4	190
Achondrogenesis	Diastrophic dysplasia, broad bone-platyspondylic variant	1	1	SLC26A2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	190
Achondrogenesis	Ear disease	1	1	SLC26A2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	190
Acne inversa	Pash syndrome	1	1	NCSTN (2)	0.25000	1.00000	1.948e-4	5.278e-4	151
acrofacial dysostosis, weyers type	Weyers acrofacial dysostosis	1	1	EVC2 (4)	0.25000	1.00000	1.948e-4	5.278e-4	233
Activated pi3k-delta syndrome	immunodeficiency 14b, autosomal recessive	1	1	PIK3CD (2)	0.25000	1.00000	1.948e-4	5.278e-4	375
Activated pi3k-delta syndrome	immunodeficiency 14	1	1	PIK3CD (2)	0.25000	1.00000	1.948e-4	5.278e-4	375
Activated pi3k-delta syndrome	Short syndrome	1	1	PIK3R1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Activated pi3k-delta syndrome	agammaglobulinemia 7, autosomal recessive	1	1	PIK3R1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Activated pi3k-delta syndrome	PIK3R1-related immunodeficiency and SHORT syndrome	1	1	PIK3R1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
ADAR-related type 1 interferonopathy	Dyschromatosis symmetrica hereditaria	1	1	ADAR (5)	0.25000	1.00000	1.948e-4	5.278e-4	378
Adenosine kinase deficiency	Sulfur amino acid metabolism disorder	1	1	ADK (3)	0.25000	1.00000	1.948e-4	5.278e-4	112
agammaglobulinemia 7, autosomal recessive	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	1	1	PIK3R1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Agat deficiency	Cerebral creatine deficiency syndrome	1	1	GATM (4)	0.25000	1.00000	1.948e-4	5.278e-4	
alacrima, achalasia, and intellectual disability syndrome	Glucocorticoid deficiency with achalasia	1	1	GMPPA (2)	0.25000	1.00000	1.948e-4	5.278e-4	383
alacrima, achalasia, and intellectual disability syndrome	Intellectual disability with strabismus syndrome	1	1	GMPPA (2)	0.25000	1.00000	1.948e-4	5.278e-4	383
alacrima, achalasia, and intellectual disability syndrome	Triple a syndrome	1	1	GMPPA (3)	0.25000	1.00000	1.948e-4	5.278e-4	383
Alpha thalassemia x-linked intellectual disability	Hemoglobin barts fetalis syndrome	1	1	ATRX (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Alpha-actinopathy	Eichsfeld type congenital muscular dystrophy	1	1	ACTA1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Alpha-actinopathy	Rigid spine muscular dystrophy	1	1	ACTA1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Aminoglycoside-induced deafness	Deafness, aminoglycoside-induced	1	1	TRMU (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Amr syndrome	Perniola krajewska carnevale syndrome	1	1	AHSG (2)	0.25000	1.00000	1.948e-4	5.278e-4	386
Amyloid angiopathy	Amyloid neuropathy	1	1	APP (2)	0.25000	1.00000	1.948e-4	5.278e-4	151
Amyloid neuropathy	Partial epilepsy with variable foci	1	1	APP (2)	0.25000	1.00000	1.948e-4	5.278e-4	151
Amyloid neuropathy	Eye manifestations	1	1	APP (2)	0.25000	1.00000	1.948e-4	5.278e-4	151
Amyloid neuropathy	cerebral amyloid angiopathy, app-related	1	1	APP (3)	0.25000	1.00000	1.948e-4	5.278e-4	151
amyotrophic lateral sclerosis, susceptibility to, 25	Genetic neurodegenerative disease	1	1	KIF5A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Analbuminemia	Anuria	1	1	ALB (4)	0.25000	1.00000	1.948e-4	5.278e-4	314
Anastomosing haemangioma	Cerebrofacial arteriovenous metameric syndrome	1	1	GNA14 (2)	0.25000	1.00000	1.948e-4	5.278e-4	65
Angiofollicular ganglionic hyperplasia	Intracranial arteriovenous malformation	1	1	IL6 (2)	0.25000	1.00000	1.948e-4	5.278e-4	248
Angiolymphoid hyperplasia	Intracranial arteriovenous malformation	1	1	IL6 (2)	0.25000	1.00000	1.948e-4	5.278e-4	248
Antithrombin deficiency	Craniocerebral trauma	1	1	SERPINC1 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Antithrombin deficiency	Hereditary antithrombin deficiency	1	1	SERPINC1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Antley-bixler syndrome	P450 oxidoreductase deficiency	1	1	POR (8)	0.25000	1.00000	1.948e-4	5.278e-4	
Antley-bixler syndrome	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	1	1	POR (8)	0.25000	1.00000	1.948e-4	5.278e-4	
Ankylosis	Antley-bixler syndrome	1	1	FGFR2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	38
Antley-bixler syndrome	Beare-stevenson cutis gyrata syndrome	1	1	FGFR2 (7)	0.25000	1.00000	1.948e-4	5.278e-4	38
Antley-bixler syndrome	Cutis gyrata syndrome	1	1	FGFR2 (6)	0.25000	1.00000	1.948e-4	5.278e-4	38
Anuria	quebec platelet disorder	1	1	PLAU (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Anuria	Blood protein disorder	1	1	ALB (2)	0.25000	1.00000	1.948e-4	5.278e-4	314
Anuria	Congenital analbuminemia	1	1	ALB (5)	0.25000	1.00000	1.948e-4	5.278e-4	314
Anuria	Dysalbuminemic hyperthyroxinemia	1	1	ALB (2)	0.25000	1.00000	1.948e-4	5.278e-4	314
Aplasia and myelodysplasia	Congenital bone marrow failure syndrome	1	1	SRP72 (4)	0.25000	1.00000	1.948e-4	5.278e-4	319
Aplasia of lacrimal and salivary glands	Lacrimoauriculodentodigital syndrome	1	1	FGF10 (6)	0.25000	1.00000	1.948e-4	5.278e-4	321
Aplasia of lacrimal and salivary glands	Ladd syndrome	1	1	FGF10 (6)	0.25000	1.00000	1.948e-4	5.278e-4	321
Apnea	Butyrylcholinesterase deficiency	1	1	BCHE (5)	0.25000	1.00000	1.948e-4	5.278e-4	397
Apnea	Trismus	1	1	BCHE (2)	0.25000	1.00000	1.948e-4	5.278e-4	397
Apnea	hyperekplexia 3	1	1	SLC6A5 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Apolipoprotein a-i amyloidosis	Ataxia with vitamin e deficiency	1	1	APOA1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	293
Apolipoprotein c-iii deficiency	Cholesterol ester transfer protein deficiency	1	1	APOC3 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Apolipoprotein c-iii deficiency	Hyperalphalipoproteinemia	1	1	APOC3 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Arachnoid cysts	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	1	1	GPHN (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Arachnoid cysts	Corpus callosum agenesis with abnormal genitalia	1	1	ARX (5)	0.25000	1.00000	1.948e-4	5.278e-4	255
Arachnoid cysts	X-linked lissencephaly	1	1	ARX (4)	0.25000	1.00000	1.948e-4	5.278e-4	255
Arachnoid cysts	X-linked spasticity-intellectual disability-epilepsy syndrome	1	1	ARX (3)	0.25000	1.00000	1.948e-4	5.278e-4	255
Arginine vasopressin deficiency	Shy-drager syndrome	1	1	AVP (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Arginine-glycine amidinotransferase deficiency	Cerebral creatine deficiency syndrome	1	1	GATM (4)	0.25000	1.00000	1.948e-4	5.278e-4	
arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Right ventricular cardiomyopathy	1	1	DSP (2)	0.25000	1.00000	1.948e-4	5.278e-4	206
Arterial tortuosity syndrome	cutis laxa, autosomal recessive, type 1B	1	1	EFEMP2 (2)	0.25000	1.00000	1.948e-4	5.278e-4	64
Arterial tortuosity syndrome	arterial tortuosity-bone fragility syndrome	1	1	EMILIN1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	64
Arthrogryposis-renal dysfunction-cholestasis syndrome	Congenital pectus carinatum	1	0	FBN1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	28
Arthrogryposis-renal dysfunction-cholestasis syndrome	Coronary artery dissection	1	0	FBN1 (1)	0.25000	1.00000	1.948e-4	5.278e-4	28
Arthrogryposis-renal dysfunction-cholestasis syndrome	arthrogryposis, renal dysfunction, and cholestasis 1	1	1	VPS33B (8)	0.25000	1.00000	1.948e-4	5.278e-4	28
Arthrogryposis-renal dysfunction-cholestasis syndrome	arthrogryposis, renal dysfunction, and cholestasis 2	1	1	VIPAS39 (7)	0.25000	1.00000	1.948e-4	5.278e-4	28
17q23.1q23.2 microdeletion syndrome	Arthropathy	1	1	TBX4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	27
Amelia	Arthropathy	1	1	TBX4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	27
Arthropathy	Chromosome 17q23.1-q23.2 duplication syndrome	1	0	TBX4 (1)	0.25000	1.00000	1.948e-4	5.278e-4	27
Arthropathy	Coxopodopatellar syndrome	1	1	TBX4 (3)	0.25000	1.00000	1.948e-4	5.278e-4	27
Arthropathy	Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	1	1	TBX4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	27
Asphyxia	Thoracic disease	1	1	IFT80 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
asphyxiating thoracic dystrophy 2	Thoracic disease	1	1	IFT80 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Asthenozoospermia	quebec platelet disorder	1	1	PLAU (3)	0.25000	1.00000	1.948e-4	5.278e-4	29
Asymmetric crying face association	Bor syndrome	1	1	EYA1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	134
Ataxia with vitamin e deficiency	familial hypobetalipoproteinemia 1	1	1	APOB (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Ataxia with vitamin e deficiency	hypercholesterolemia, autosomal dominant, type B	1	1	APOB (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Ataxia with vitamin e deficiency	Vitamin e deficiency	1	1	TTPA (6)	0.25000	1.00000	1.948e-4	5.278e-4	293
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	1	1	DNAJC3 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
ATM-related cancer predisposition	Chromosome 17q21.31 deletion syndrome	1	1	ATM (2)	0.25000	1.00000	1.948e-4	5.278e-4	364
Atr-x syndrome	Hemoglobin barts fetalis syndrome	1	1	ATRX (4)	0.25000	1.00000	1.948e-4	5.278e-4	
ATR-X-related syndrome	Hemoglobin barts fetalis syndrome	1	1	ATRX (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Atrial standstill	dilated cardiomyopathy 1E	1	1	SCN5A (3)	0.25000	1.00000	1.948e-4	5.278e-4	140
Atrial standstill	SCN5A-related cardiac rhythm disorder	1	1	SCN5A (3)	0.25000	1.00000	1.948e-4	5.278e-4	140
Atrophic retina	Bietti crystalline corneoretinal dystrophy	1	0	ABCA4 (1)	0.25000	1.00000	1.948e-4	5.278e-4	150
Atrophoderma vermiculata	Keratosis follicularis spinulosa decalvans	1	1	LRP1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	247
atypical hemolytic-uremic syndrome	Factor i deficiency	1	1	CFI (2)	0.25000	1.00000	1.948e-4	5.278e-4	32
Atypical teratoid rhabdoid tumor	Schwannomatosis	1	1	SMARCB1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	299
Au-kline syndrome	X-linked distal spinal muscular atrophy	1	1	ATP7A (5)	0.25000	1.00000	1.948e-4	5.278e-4	402
Au-kline syndrome	menkes disease	1	1	ATP7A (2)	0.25000	1.00000	1.948e-4	5.278e-4	402
Au-kline syndrome	X-linked distal spinal muscular atrophy type 3	1	1	ATP7A (2)	0.25000	1.00000	1.948e-4	5.278e-4	402
Au-kline syndrome	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	1	1	HNRNPK (6)	0.25000	1.00000	1.948e-4	5.278e-4	402
Au-kline syndrome	Chuvash erythrocytosis	1	1	VHL (4)	0.25000	1.00000	1.948e-4	5.278e-4	
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Mycosis fungoides	1	1	CTLA4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
autoimmune polyendocrine syndrome type 1	Hypoparathyroidism	1	1	AIRE (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Autoimmune pulmonary alveolar proteinosis	Benign mucous membrane pemphigoid with ocular involvement	1	1	HLA-DRB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Autoimmune pulmonary alveolar proteinosis	Bouillaud’s disease	1	1	HLA-DRB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Acute disseminated encephalomyelitis	Autoimmune pulmonary alveolar proteinosis	1	1	HLA-DRB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Autoinflammation with arthritis and vasculitis	Corticobasal syndrome	1	1	TBK1 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Autoinflammation, panniculitis, and dermatosis syndrome	Chondrocalcinosis	1	1	OTULIN (5)	0.25000	1.00000	1.948e-4	5.278e-4	208
Autoinflammation, panniculitis, and dermatosis syndrome	Craniometaphyseal dysplasia	1	1	OTULIN (5)	0.25000	1.00000	1.948e-4	5.278e-4	208
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	Chondrocalcinosis	1	1	OTULIN (2)	0.25000	1.00000	1.948e-4	5.278e-4	208
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	Craniometaphyseal dysplasia	1	1	OTULIN (2)	0.25000	1.00000	1.948e-4	5.278e-4	208
autosomal dominant cerebellar ataxia, deafness and narcolepsy	Dominantly inherited sensory neuropathy	1	1	DNMT1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	332
autosomal dominant hypocalcemia 1	Hypocalciuric hypercalcemia	1	1	CASR (7)	0.25000	1.00000	1.948e-4	5.278e-4	210
autosomal recessive polycystic kidney disease	Liver cyst	1	1	PKD1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
autosomal recessive polycystic kidney disease	Congenital hypoplasia of aortic arch	1	1	PKHD1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	74
autosomal recessive polycystic kidney disease	Periportal fibrosis	1	1	PKHD1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	74
Avascular necrosis of femoral head	Collagenopathy	1	1	COL2A1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	15
Avascular necrosis of femoral head	Coxa plana	1	1	COL2A1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	15
Avascular necrosis of femoral head	Czech dysplasia	1	1	COL2A1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	15
Avascular necrosis of femoral head	Dysspondyloenchondromatosis	1	1	COL2A1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	15
Avascular necrosis of femoral head	kniest dysplasia	1	1	COL2A1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	15
Ayazi syndrome	Deafness, nonsyndromic sensorineural, mitochondrial	1	0	POU3F4 (1)	0.25000	1.00000	1.948e-4	5.278e-4	244
Ayazi syndrome	Hearing loss with stapes fixation	1	1	POU3F4 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Bart-pumphrey syndrome	Keratitis-ichthyosis-deafness syndrome	1	1	GJB2 (3)	0.25000	1.00000	1.948e-4	5.278e-4	68
Becker muscular dystrophy	Benign congenital myopathy	1	1	DMD (4)	0.25000	1.00000	1.948e-4	5.278e-4	212
Becker muscular dystrophy	Dystrophinopathy	1	1	DMD (4)	0.25000	1.00000	1.948e-4	5.278e-4	212
Becker muscular dystrophy	progressive muscular dystrophy	1	1	DMD (5)	0.25000	1.00000	1.948e-4	5.278e-4	212
Beemer-langer syndrome	Thoracic disease	1	1	IFT80 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
cutis laxa, autosomal dominant 1	Dermatitis herpetiformis	1	1	ELN (2)	0.25000	1.00000	1.948e-4	5.278e-4	37
D-bifunctional protein deficiency	Fatty acid metabolism disorder	1	1	HSD17B4 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
DDX41-related hematologic malignancy predisposition syndrome	Thrombotic microangiopathy	1	1	DDX41 (5)	0.25000	1.00000	1.948e-4	5.278e-4	32
Deafness-onychodystrophy syndrome	Digitrenocerebral syndrome	1	1	ATP6V1B2 (4)	0.25000	1.00000	1.948e-4	5.278e-4	105
Deafness-onychodystrophy syndrome	Zimmermann-laband syndrome	1	1	ATP6V1B2 (4)	0.25000	1.00000	1.948e-4	5.278e-4	105
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Hereditary xerocytosis	1	1	PIEZO1 (7)	0.25000	1.00000	1.948e-4	5.278e-4	431
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Xerocytosis	1	1	PIEZO1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	431
Dend syndrome	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency	1	1	ABCC8 (3)	0.25000	1.00000	1.948e-4	5.278e-4	
Dend syndrome	Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency	1	1	ABCC8 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Dend syndrome	hyperinsulinemic hypoglycemia, familial, 1	1	1	ABCC8 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Dend syndrome	Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	1	1	KCNJ11 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Dent disease	Oculocerebrorenal syndrome	1	1	OCRL (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Dent disease	X-linked nephrolithiasis	1	1	CLCN5 (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Dent disease	Dent disease type 1	1	1	CLCN5 (7)	0.25000	1.00000	1.948e-4	5.278e-4	
Dentatorubral pallidoluysian atrophy	X-linked hydrocephalus syndrome	1	1	ATN1 (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Dermatitis herpetiformis	Refractory anemia	1	1	TNF (2)	0.25000	1.00000	1.948e-4	5.278e-4	37
Desbuquois dysplasia	desbuquois dysplasia 1	1	1	CANT1 (5)	0.25000	1.00000	1.948e-4	5.278e-4	
Desmoid tumor	Refractory anemia	1	1	TNF (2)	0.25000	1.00000	1.948e-4	5.278e-4	37
Desmoid tumor	Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	1	1	CTNNB1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Desmoid tumor	Familial adenomatous polyposis	1	1	APC (7)	0.25000	1.00000	1.948e-4	5.278e-4	37
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Neonatal convulsions	1	1	DIAPH1 (2)	0.25000	1.00000	1.948e-4	5.278e-4	157
Dias-logan syndrome	Intellectual developmental disorder hemoglobin persistence	1	1	BCL11A (6)	0.25000	1.00000	1.948e-4	5.278e-4	
Diencephalic mesencephalic junction dysplasia	diencephalic-mesencephalic junction dysplasia syndrome 2	1	1	GSX2 (4)	0.25000	1.00000	1.948e-4	5.278e-4	
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Digitrenocerebral syndrome	1	1	TBC1D24 (2)	0.25000	1.00000	1.948e-4	5.278e-4	105
Digitrenocerebral syndrome	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	1	1	TBC1D24 (2)	0.25000	1.00000	1.948e-4	5.278e-4	105
Dominantly inherited sensory neuropathy	hereditary sensory and autonomic neuropathy type 6	1	1	DST (2)	0.25000	1.00000	1.948e-4	5.278e-4	332
Dominantly inherited sensory neuropathy	hereditary sensory and autonomic neuropathy type 7	1	1	SCN11A (2)	0.25000	1.00000	1.948e-4	5.278e-4	
dopa-responsive dystonia due to sepiapterin reductase deficiency	Hyperphenylalaninemia	1	1	SPR (2)	0.25000	1.00000	1.948e-4	5.278e-4	
Dopamine transporter deficiency syndrome	Parkinsonism-dystonia	1	1	SLC6A3 (5)	0.25000	1.00000	1.948e-4	5.278e-4	336
Burkitt lymphoma	Coffin-siris syndrome	2	2	ARID1A (5), SMARCA4 (5)	0.05714	0.11765	1.940e-4	5.278e-4	
Corneal ulcer	Proliferative diabetic retinopathy	2	1	SERPINF1 (2), UTRN (1)	0.04545	0.22222	1.894e-4	5.278e-4	
Emphysema	Hepatic insufficiency	2	0	NFE2L2 (1), NOS2 (1)	0.04545	0.22222	1.894e-4	5.278e-4	
Retinal detachment	Rhegmatogenous retinal detachment	2	1	COL2A1 (3), FAT3 (1)	0.03846	0.28571	1.816e-4	5.278e-4	
Glycogen storage disease	Ventricular dysfunction	3	3	TNNT2 (2), PIK3CA (2), GAA (7)	0.03704	0.08108	1.806e-4	5.278e-4	
Developmental regression	Sick sinus syndrome	2	0	MECP2 (1), LMNA (1)	0.05714	0.11111	1.953e-4	5.290e-4	
Combined oxidative phosphorylation deficiency	Leukodystrophy	3	2	AIFM1 (3), RAB33A (1), TOMM70 (2)	0.03261	0.11538	1.991e-4	5.394e-4	
Esophageal disease	Sleep disorder	2	0	APOE (1), SLC39A8 (1)	0.05000	0.18182	1.996e-4	5.406e-4	
Duodenal ulcer	Hepatic insufficiency	2	2	TGFB1 (2), NOS2 (2)	0.04444	0.22222	2.001e-4	5.419e-4	
Cerebral hemorrhage	Erectile dysfunction	3	3	BCL2L1 (2), VEGFA (2), BCL2 (2)	0.03409	0.10345	2.009e-4	5.438e-4	
Congenital hypoplasia of kidney	Hypospadias	2	1	KAT6B (1), EYA1 (2)	0.04082	0.25000	2.013e-4	5.448e-4	
Cerebral arteriovenous malformations	Intracranial aneurysm	2	1	IL6 (2), ENG (1)	0.05556	0.13333	2.023e-4	5.476e-4	
Galloway-mowat syndrome	Idiopathic steroid-resistant nephrotic syndrome	2	2	NUP107 (5), NUP133 (6)	0.05128	0.16667	2.081e-4	5.632e-4	20
Byzanthine arch palate	Hydrocephalus	2	0	PLOD1 (1), FGFR2 (1)	0.05263	0.15385	2.114e-4	5.720e-4	
Dyskinesia	Pruritus	2	2	PDYN (2), OPRM1 (2)	0.05263	0.15385	2.114e-4	5.720e-4	
Basal ganglia disease	Dyskinesia	2	2	DRD2 (2), HTR2A (2)	0.05263	0.15385	2.114e-4	5.720e-4	
Myeloproliferative disorder	Schizoaffective disorder	3	1	PDGFRB (1), MAD1L1 (1), CALR (2)	0.03529	0.08824	2.137e-4	5.780e-4	
Blepharoptosis	Clinodactyly	2	0	ANKRD11 (1), DMD (1)	0.05556	0.11111	2.181e-4	5.900e-4	
Essential tremor	Neuropathy	3	0	PSD3 (1), TRIO (1), NAT2 (1)	0.02632	0.15789	2.182e-4	5.902e-4	
Aortic stenosis	Major salivary gland carcinoma	2	0	MYMK (1), SLC2A6 (1)	0.03077	0.33333	2.217e-4	5.996e-4	
Erectile dysfunction	Lipoprotein lipase deficiency	3	1	SLC39A8 (1), VEGFA (3), TDRD15 (1)	0.03371	0.10000	2.226e-4	6.017e-4	
Benign prostatic hyperplasia	Head and neck cancer	2	0	TERT (1), CLPTM1L (1)	0.04545	0.20000	2.233e-4	6.037e-4	
Osteolysis	Otosclerosis	2	2	SPP1 (2), TNFSF11 (2)	0.03509	0.28571	2.235e-4	6.041e-4	
Generalized anxiety disorder	Retinal detachment	3	1	FRAS1 (1), MAPT (1), EYS (2)	0.03571	0.07500	2.282e-4	6.166e-4	
Emphysema	Keratosis	2	2	TP53 (2), NFE2L2 (2)	0.04444	0.20000	2.364e-4	6.387e-4	
Dystrophic epidermolysis bullosa	Nail dystrophy	1	1	COL7A1 (8)	0.25000	0.50000	2.598e-4	6.403e-4	252
Dystrophic epidermolysis bullosa	Hallopeau siemens disease	1	1	COL7A1 (8)	0.25000	0.50000	2.598e-4	6.403e-4	252
Ectopic rhythm	Paroxysmal ventricular fibrillation	1	1	SCN5A (2)	0.25000	0.50000	2.598e-4	6.403e-4	140
Familial mediterranean fever	Intermittent hydrarthrosis	1	1	MEFV (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Familial mediterranean fever	Sweet syndrome	1	1	MEFV (3)	0.25000	0.50000	2.598e-4	6.403e-4	
nevoid basal cell carcinoma syndrome	Tessier facial cleft	1	1	PTCH2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	25
Odontochondrodysplasia 2 with hearing loss and diabetes	Testis atrophy	1	1	PLEKHG5 (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Aniridia-cerebellar ataxia-intellectual disability syndrome	Optic nerve disorder	1	1	PAX6 (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Congenital aniridia	Optic nerve disorder	1	1	PAX6 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Craniopharyngioma	Osteopathia striata with cranial sclerosis	1	1	CTNNB1 (3)	0.25000	0.50000	2.598e-4	6.403e-4	81
Osteopathia striata with cranial sclerosis	Vascular calcification	1	1	CTNNB1 (3)	0.25000	0.50000	2.598e-4	6.403e-4	81
Camurati-engelmann syndrome	Osteopetrosis and infantile neuroaxonal dystrophy	1	1	LRP5 (2)	0.25000	0.50000	2.598e-4	6.403e-4	123
Branchiootic syndrome	Otofaciocervical syndrome	1	1	EYA1 (6)	0.25000	0.50000	2.598e-4	6.403e-4	134
Pancreatic cyst	Polycystic kidney disease with tuberous sclerosis	1	1	PKD1 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Parapsoriasis	Thromboangiitis obliterans	1	1	HLA-A (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Aphasia	Paresis	1	1	PLAT (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Paresis	Postictal aphasia	1	1	PLAT (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Partial atrioventricular canal defect	1	1	GATA4 (3)	0.25000	0.50000	2.598e-4	6.403e-4	106
Deafness with congenital onychodystrophy	Periodic paralysis	1	0	TBC1D24 (1)	0.25000	0.50000	2.598e-4	6.403e-4	105
Doors syndrome	Periodic paralysis	1	1	TBC1D24 (4)	0.25000	0.50000	2.598e-4	6.403e-4	105
Peripheral pulmonary artery stenosis	Syndactyly of the toes	1	0	CUL9 (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Interleukin 1 receptor antagonist deficiency	Recurrent multifocal osteomyelitis	1	1	IL1RN (3)	0.25000	0.50000	2.598e-4	6.403e-4	219
Intermittent hydrarthrosis	Sweet syndrome	1	1	MEFV (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Aphasia	Intracranial embolism and thrombosis	1	1	PLAT (2)	0.25000	0.50000	2.598e-4	6.403e-4	29
Intracranial embolism and thrombosis	Postictal aphasia	1	1	PLAT (2)	0.25000	0.50000	2.598e-4	6.403e-4	29
Juvenile hyperuricemic nephropathy	Tonne-kalscheuer syndrome	1	1	REN (4)	0.25000	0.50000	2.598e-4	6.403e-4	70
Lethal acantholytic epidermolysis bullosa	Ventricular arrhythmia	1	1	DSP (3)	0.25000	0.50000	2.598e-4	6.403e-4	206
macrothrombocytopenia, isolated	Parkinson-dementia complex of guam	1	1	TRPM7 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Craniometadiaphyseal dysplasia	Schwartz-lelek syndrome	1	0	ANKH (1)	0.25000	0.50000	2.598e-4	6.403e-4	208
Sclerosteosis	Van buchem disease	1	1	SOST (7)	0.25000	0.50000	2.598e-4	6.403e-4	
Cenani-lenz syndrome	Sclerosteosis	1	1	LRP4 (8)	0.25000	0.50000	2.598e-4	6.403e-4	
Seborrhea-like dermatitis with psoriasiform elements	Thiel-behnke corneal dystrophy	1	0	TBCD (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Pelger-huet anomaly	Specific granule deficiency	1	1	CEBPE (5)	0.25000	0.50000	2.598e-4	6.403e-4	
Teebi syndrome	Tessier facial cleft	1	1	SPECC1L (4)	0.25000	0.50000	2.598e-4	6.403e-4	
Elsahy-waters syndrome	Teebi syndrome	1	1	CDH11 (5)	0.25000	0.50000	2.598e-4	6.403e-4	
Ameloblastoma	Tethered cord syndrome	1	1	BRAF (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Anaplastic astrocytoma	Tethered cord syndrome	1	1	BRAF (2)	0.25000	0.50000	2.598e-4	6.403e-4	200
Craniopharyngioma	Tethered cord syndrome	1	1	BRAF (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Encephalocraniocutaneous lipomatosis	Toriello-carey syndrome	1	1	KRAS (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Infantile liver failure	Verloes-bourguignon syndrome	1	0	SCYL1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Deafness with congenital onychodystrophy	Infantile myoclonic epilepsy	1	0	TBC1D24 (1)	0.25000	0.50000	2.598e-4	6.403e-4	105
Doors syndrome	Infantile myoclonic epilepsy	1	1	TBC1D24 (4)	0.25000	0.50000	2.598e-4	6.403e-4	105
Infantile myoclonic epilepsy	Periodic paralysis	1	0	TBC1D24 (1)	0.25000	0.50000	2.598e-4	6.403e-4	105
Intellectual developmental disorder seizures extrapyramidal	Vulto-van silfhout-de vries syndrome	1	1	DEAF1 (5)	0.25000	0.50000	2.598e-4	6.403e-4	
Mitral valve disease	Uterine disease	1	1	MTHFR (2)	0.25000	0.50000	2.598e-4	6.403e-4	60
Camurati-engelmann syndrome	Van buchem disease	1	0	LRP5 (1)	0.25000	0.50000	2.598e-4	6.403e-4	123
Craniopharyngioma	Vascular calcification	1	1	CTNNB1 (3)	0.25000	0.50000	2.598e-4	6.403e-4	81
Congenital scoliosis	Verloes-bourguignon syndrome	1	0	LTBP3 (1)	0.25000	0.50000	2.598e-4	6.403e-4	28
Senter syndrome	Vohwinkel syndrome	1	1	GJB2 (3)	0.25000	0.50000	2.598e-4	6.403e-4	68
15q24 microdeletion	Witteveen-kolk syndrome	1	1	SIN3A (4)	0.25000	0.50000	2.598e-4	6.403e-4	362
X-linked centronuclear myopathy	X-linked myotubular myopathy	1	1	MTM1 (4)	0.25000	0.50000	2.598e-4	6.403e-4	61
Cone dystrophy, x-linked	X-linked cone dysfunction syndrome with myopia	1	1	OPN1MW (2)	0.25000	0.50000	2.598e-4	6.403e-4	217
Scapuloperoneal myopathy	X-linked emery-dreifuss muscular dystrophy	1	1	FHL1 (5)	0.25000	0.50000	2.598e-4	6.403e-4	
Scapuloperoneal myopathy	X-linked myopathy	1	1	FHL1 (5)	0.25000	0.50000	2.598e-4	6.403e-4	
X-linked emery-dreifuss muscular dystrophy	X-linked myopathy	1	1	FHL1 (5)	0.25000	0.50000	2.598e-4	6.403e-4	433
Growth hormone insensitivity syndrome	Growth hormone insensitivity, partial	1	1	GHR (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Growth hormone insensitivity syndrome	Growth hormone insensitivity syndrome with immune dysregulation	1	1	STAT5B (5)	0.25000	0.50000	2.598e-4	6.403e-4	
Hallermanns syndrome	Schwartz-lelek syndrome	1	0	GJA1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Hallopeau siemens disease	Nail dystrophy	1	1	COL7A1 (2)	0.25000	0.50000	2.598e-4	6.403e-4	252
Hepatic adenoma	Insulin resistant diabetes mellitus	1	1	HNF1A (4)	0.25000	0.50000	2.598e-4	6.403e-4	
Pituitary adenoma	Pituitary gigantism	1	1	AIP (2)	0.25000	0.50000	2.598e-4	6.403e-4	235
Polycystic kidney disease with tuberous sclerosis	Renovascular hypertension	1	1	PKD1 (2)	0.25000	0.50000	2.598e-4	6.403e-4	48
Polycystic kidneys, severe infantile with tuberous sclerosis	Renovascular hypertension	1	0	PKD1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	48
Polymyalgia rheumatica	Porphyruria	1	0	HFE (1)	0.25000	0.50000	2.598e-4	6.403e-4	251
Medullary carcinoma	Primary hypertrophic osteoarthropathy	1	1	HPGD (6)	0.25000	0.50000	2.598e-4	6.403e-4	
Pancreatic cyst	Renovascular hypertension	1	0	PKD1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Choroidal dystrophy	Retinitis pigmentosa, digenic	1	1	PRPH2 (5)	0.25000	0.50000	2.598e-4	6.403e-4	69
Choroidal sclerosis	Retinitis pigmentosa, digenic	1	0	PRPH2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	69
Rhabdoid tumor	Rhabdoid tumor predisposition syndrome	1	1	SMARCB1 (7)	0.25000	0.50000	2.598e-4	6.403e-4	
Rhabdoid tumor predisposition syndrome	Thoracic neoplasms	1	1	SMARCA4 (6)	0.25000	0.50000	2.598e-4	6.403e-4	261
Bifid nose	Cleft face	1	0	GLI2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	169
Bifid nose	Craniofaciosynostosis	1	1	FREM1 (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Birk-barel syndrome	Cataract-glaucoma syndrome	1	1	TRPM3 (2)	0.25000	0.50000	2.598e-4	6.403e-4	122
Birt-hogg-dube syndrome	Potocki-lupski syndrome	1	1	FLCN (6)	0.25000	0.50000	2.598e-4	6.403e-4	285
Blast crisis	Hyper-immunoglobulin syndrome	1	1	AICDA (2)	0.25000	0.50000	2.598e-4	6.403e-4	266
Bmpr1a-related juvenile polyposis	juvenile polyposis syndrome	1	1	BMPR1A (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Boichis syndrome	Cerebellar malformation	1	0	TMEM67 (1)	0.25000	0.50000	2.598e-4	6.403e-4	315
Boichis syndrome	Chylomicron retention disease	1	0	DCDC2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	315
Bowed long bones	Buruli ulcer	1	1	PLOD2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	56
Bowed long bones	Congenital camptodactyly	1	0	PLOD2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	56
Bowed long bones	Congenital hypoplasia of femur	1	0	PLOD2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	56
Branchiooculofacial syndrome	Branchiootic syndrome	1	1	EYA1 (6)	0.25000	0.50000	2.598e-4	6.403e-4	134
Branchiooculofacial syndrome	Otofaciocervical syndrome	1	1	EYA1 (5)	0.25000	0.50000	2.598e-4	6.403e-4	134
Buruli ulcer	Congenital camptodactyly	1	1	PLOD2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	56
Buruli ulcer	Congenital hypoplasia of femur	1	1	PLOD2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	56
Calcium pyrophosphate deposition	Craniometadiaphyseal dysplasia	1	1	ANKH (2)	0.25000	0.50000	2.598e-4	6.403e-4	208
Calcium pyrophosphate deposition	Schwartz-lelek syndrome	1	1	ANKH (2)	0.25000	0.50000	2.598e-4	6.403e-4	208
Carbamoyl phosphate synthetase deficiency	Hypoplastic anemia	1	1	CAD (2)	0.25000	0.50000	2.598e-4	6.403e-4	347
Carbamoyl phosphate synthetase deficiency	Congenital hypoplastic anemia	1	0	CAD (1)	0.25000	0.50000	2.598e-4	6.403e-4	347
Chylomicron retention disease	Senior-boichis syndrome	1	1	DCDC2 (3)	0.25000	0.50000	2.598e-4	6.403e-4	315
Coagulation factor deficiency syndrome	Congenital factor xiii deficiency	1	1	F13B (3)	0.25000	0.50000	2.598e-4	6.403e-4	354
Coagulation factor deficiency syndrome	Factor xiii deficiency	1	1	F13B (6)	0.25000	0.50000	2.598e-4	6.403e-4	354
Colonic polyps	Parkinson-dementia complex of guam	1	1	TRPM7 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Colonic polyps	macrothrombocytopenia, isolated	1	1	TRPM7 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Combined cellular and humoral immune defects with granulomas	Salla disease	1	1	RAG2 (3)	0.25000	0.50000	2.598e-4	6.403e-4	176
Combined deficiency of factor v and factor viii	Factor v deficiency	1	1	LMAN1 (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Combined factor v and factor viii deficiency	Factor v deficiency	1	1	LMAN1 (6)	0.25000	0.50000	2.598e-4	6.403e-4	
Combined immunodeficiency with skin granulomas	Salla disease	1	1	RAG2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	176
Combined saposin deficiency	Pituitary adenoma	1	1	CDH23 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Common arterial trunk with aortic dominance	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	1	GATA6 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Common arterial trunk with pulmonary dominance and interrupted aortic arch	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	1	GATA6 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Cone dystrophy, x-linked	Cone monochromatism	1	1	OPN1MW (2)	0.25000	0.50000	2.598e-4	6.403e-4	217
Congenital asplenia	Deletion 5q35 syndrome	1	1	NKX2-5 (3)	0.25000	0.50000	2.598e-4	6.403e-4	166
Congenital camptodactyly	Congenital hypoplasia of femur	1	0	PLOD2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	56
Congenital exomphalos	Currarino syndrome	1	1	PCSK5 (2)	0.25000	0.50000	2.598e-4	6.403e-4	109
Congenital exomphalos	Sacral defect	1	1	PCSK5 (2)	0.25000	0.50000	2.598e-4	6.403e-4	109
Deafness, digenic	Senter syndrome	1	1	GJB2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	68
Deafness, digenic	Vohwinkel syndrome	1	1	GJB2 (4)	0.25000	0.50000	2.598e-4	6.403e-4	68
Deletion 5q35 syndrome	Splenic hypoplasia	1	1	NKX2-5 (2)	0.25000	0.50000	2.598e-4	6.403e-4	166
Combined osteogenesis imperfecta and ehlers-danlos syndrome 	Dermatofibrosarcoma protuberans	1	1	COL1A1 (5)	0.25000	0.50000	2.598e-4	6.403e-4	93
Cone dystrophy, x-linked	Deuteranomaly	1	1	OPN1MW (2)	0.25000	0.50000	2.598e-4	6.403e-4	217
Cone monochromatism	Deuteranomaly	1	1	OPN1MW (2)	0.25000	0.50000	2.598e-4	6.403e-4	217
Deuteranomaly	X-linked cone dysfunction syndrome with myopia	1	1	OPN1MW (3)	0.25000	0.50000	2.598e-4	6.403e-4	217
Developmental delay with language impairment and movement disorder	Intellectual developmental disorder autism speech	1	1	TBR1 (4)	0.25000	0.50000	2.598e-4	6.403e-4	220
Camurati-engelmann syndrome	Diaphyseal bone disorder	1	1	TGFB1 (6)	0.25000	0.50000	2.598e-4	6.403e-4	
Diastolic heart failure	Retinopathy background	1	1	ABCA4 (2)	0.25000	0.50000	2.598e-4	6.403e-4	150
Congenital scoliosis	Dilatation of pulmonary artery	1	0	FBN1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	28
Distal amyotrophy	Lysine metabolism disorder	1	0	DHTKD1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Dubowitz syndrome	Lig4 syndrome	1	1	LIG4 (4)	0.25000	0.50000	2.598e-4	6.403e-4	360
Cardiac rhythm disease	Ectopic rhythm	1	1	SCN5A (3)	0.25000	0.50000	2.598e-4	6.403e-4	140
Cardiac rhythm disease	Paroxysmal ventricular fibrillation	1	1	SCN5A (3)	0.25000	0.50000	2.598e-4	6.403e-4	140
Cerebellar malformation	Senior-boichis syndrome	1	1	TMEM67 (3)	0.25000	0.50000	2.598e-4	6.403e-4	315
Cervical dysplasia	Mitral valve disease	1	0	MTHFR (1)	0.25000	0.50000	2.598e-4	6.403e-4	60
Aphasia	Cholesterol embolism	1	1	PLAT (2)	0.25000	0.50000	2.598e-4	6.403e-4	29
Cholesterol embolism	Postictal aphasia	1	0	PLAT (1)	0.25000	0.50000	2.598e-4	6.403e-4	29
Amyloid polyneuropathy	Apolipoprotein a-i deficiency	1	1	APOA1 (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Arteriovenous malformations	Encephalocraniocutaneous lipomatosis	1	1	KRAS (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Arteriovenous malformations	Toriello-carey syndrome	1	1	KRAS (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Arteriovenous malformations	Port-wine stain	1	1	RASA1 (2)	0.25000	0.50000	2.598e-4	6.403e-4	65
Arthralgia	Mevalonate kinase deficiency	1	1	MVK (3)	0.25000	0.50000	2.598e-4	6.403e-4	327
Atrioventricular excitation abnormality	Keppen-lubinsky syndrome	1	1	MYH6 (2)	0.25000	0.50000	2.598e-4	6.403e-4	328
Atypical hemolytic uremic syndrome	Panuveitis	1	0	CFH (1)	0.25000	0.50000	2.598e-4	6.403e-4	32
Auditory perceptual disorder	Congenital exomphalos	1	1	CHRNA7 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Autoimmune pancreatitis	Tongue cancer	1	1	HLA-DQB1 (2)	0.25000	0.50000	2.598e-4	6.403e-4	1
autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Juvenile hyperuricemic nephropathy	1	1	UMOD (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Congenital hemangioma	Cutis marmorata telangiectatica congenita	1	1	GNA11 (3)	0.25000	0.50000	2.598e-4	6.403e-4	65
Congenital hemangioma	Port-wine stain	1	1	GNAQ (3)	0.25000	0.50000	2.598e-4	6.403e-4	65
Congenital hereditary endothelial dystrophy	Corneal endothelial dystrophy	1	1	SLC4A11 (6)	0.25000	0.50000	2.598e-4	6.403e-4	87
Congenital scoliosis	Crst syndrome	1	0	FBN1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	28
Congenital aural atresia	Congenital vertical talus	1	1	TSHZ1 (7)	0.25000	0.50000	2.598e-4	6.403e-4	
Corpus callosum agenesis	Urethral syndrome	1	1	CDK5RAP2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Cortical occipital malformations	Developmental delay with language impairment and movement disorder	1	1	TBR1 (2)	0.25000	0.50000	2.598e-4	6.403e-4	220
Cortical occipital malformations	Intellectual developmental disorder autism speech	1	1	TBR1 (3)	0.25000	0.50000	2.598e-4	6.403e-4	220
Ameloblastoma	Craniopharyngioma	1	1	BRAF (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Cri-du-chat syndrome	Tongue cancer	1	1	TERT (3)	0.25000	0.50000	2.598e-4	6.403e-4	1
Crst syndrome	Dilatation of pulmonary artery	1	0	FBN1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	28
Childhood-onset glut1 deficiency syndrome 2	Cryohydrocytosis	1	1	SLC2A1 (4)	0.25000	0.50000	2.598e-4	6.403e-4	
Currarino syndrome	Sacral defect	1	1	PCSK5 (2)	0.25000	0.50000	2.598e-4	6.403e-4	109
12q14 microdeletion syndrome	Benign epithelial tumor of salivary glands	1	1	HMGA2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
15q13.3 microdeletion syndrome	Auditory perceptual disorder	1	1	CHRNA7 (5)	0.25000	0.50000	2.598e-4	6.403e-4	
15q13.3 microdeletion syndrome	Congenital exomphalos	1	1	CHRNA7 (5)	0.25000	0.50000	2.598e-4	6.403e-4	109
15q24 microdeletion	Cardiac, facial, and digital anomalies with developmental delay	1	1	MEIS2 (3)	0.25000	0.50000	2.598e-4	6.403e-4	
17p11.2 microduplication syndrome	Birt-hogg-dube syndrome	1	1	FLCN (6)	0.25000	0.50000	2.598e-4	6.403e-4	285
22q13 monosomy syndrome	Hyperkalemia	1	0	INS (1)	0.25000	0.50000	2.598e-4	6.403e-4	224
Acid-base disorder	Wernicke-korsakoff syndrome	1	1	ADH1B (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Acrocallosal syndrome	Pilosebaceous disorder	1	1	GLI3 (2)	0.25000	0.50000	2.598e-4	6.403e-4	192
Acromegaly	Pituitary adenoma	1	1	AIP (2)	0.25000	0.50000	2.598e-4	6.403e-4	235
Acromegaly	Pituitary gigantism	1	1	AIP (2)	0.25000	0.50000	2.598e-4	6.403e-4	235
Acroosteolysis	Alagille syndrome	1	1	NOTCH2 (4)	0.25000	0.50000	2.598e-4	6.403e-4	
Acroosteolysis	Follicular cyst	1	1	NOTCH2 (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Acroosteolysis	Myofibromatosis	1	1	PDGFRB (5)	0.25000	0.50000	2.598e-4	6.403e-4	
Adrenoleukodystrophy	Deafness, dystonia, and cerebral hypomyelination	1	1	ABCD1 (4)	0.25000	0.50000	2.598e-4	6.403e-4	
Agenesis of corpus callosum	Corpus callosum agenesis neuronopathy syndrome	1	1	SLC12A6 (4)	0.25000	0.50000	2.598e-4	6.403e-4	
Aicardi syndrome	Sveinsson chorioretinal atrophy	1	1	TEAD1 (4)	0.25000	0.50000	2.598e-4	6.403e-4	
Alagille syndrome	Follicular cyst	1	1	NOTCH2 (5)	0.25000	0.50000	2.598e-4	6.403e-4	
Alpha-1 antichymotrypsin deficiency	Hemolytic disease of fetus and newborn	1	1	RHD (2)	0.25000	0.50000	2.598e-4	6.403e-4	306
Alpha-1 antichymotrypsin deficiency	Rh isoimmunization	1	0	RHD (1)	0.25000	0.50000	2.598e-4	6.403e-4	306
Amed syndrome	Wernicke-korsakoff syndrome	1	0	ALDH2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Ameloblastoma	Anaplastic astrocytoma	1	1	BRAF (2)	0.25000	0.50000	2.598e-4	6.403e-4	
Anaplastic astrocytoma	Craniopharyngioma	1	1	BRAF (3)	0.25000	0.50000	2.598e-4	6.403e-4	
Anaplastic astrocytoma	Anaplastic oligodendroglioma	1	0	IDH2 (1)	0.25000	0.50000	2.598e-4	6.403e-4	200
Angiomatoid fibrous histiocytoma	Desmoplastic small round cell tumor	1	0	EWSR1 (1)	0.25000	0.50000	2.598e-4	6.403e-4	
Anisometropia	Lipomatosis	1	1	PTEN (2)	0.25000	0.50000	2.598e-4	6.403e-4	317
17,20-lyase deficiency	Bile duct calculus	1	0	CYP17A1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
17q11.2 microduplication syndrome	Middle aortic syndrome	1	1	NF1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	71
17q21.31 microdeletion syndrome	Dysgenesis of corpus callosum	1	1	KANSL1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
22q13.3 deletion syndrome	Ventricular outflow obstruction	1	1	INS (2)	0.20000	1.00000	2.598e-4	6.403e-4	224
22q13.3 deletion syndrome	phelan-mcdermid syndrome	1	1	SHANK3 (2)	0.20000	1.00000	2.598e-4	6.403e-4	224
2q37 microdeletion syndrome	Chromosome 2q37 deletion syndrome	1	1	HDAC4 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
3mc syndrome 1	Craniofacial ulnar renal syndrome	1	1	MASP1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	292
Aapoai amyloidosis	Visceral amyloidosis	1	1	APOA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Aarskog-scott syndrome, x-linked	Congenital foot deformity	1	1	FGD1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	30
Abcd syndrome	Waardenburg-shah syndrome	1	1	EDNRB (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Acatalasia	Ureteral calculi	1	1	CAT (4)	0.20000	1.00000	2.598e-4	6.403e-4	294
Acrofacial dysostosis	SF3B4-related acrofacial dysostosis	1	1	SF3B4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	233
Acrofacial dysostosis	acrofacial dysostosis, weyers type	1	1	EVC2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	233
Agat deficiency	De toni-debre-fanconi syndrome	1	1	GATM (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Agat deficiency	Fanconi renotubular syndrome	1	1	GATM (6)	0.20000	1.00000	2.598e-4	6.403e-4	
ALS2-related motor neuron disease	Hypertyrosinemia	1	1	ALS2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	199
Alys amyloidosis	Visceral amyloidosis	1	0	LYZ (1)	0.20000	1.00000	2.598e-4	6.403e-4	128
aminoacylase 1 deficiency	Aminoacylase deficiency	1	1	ACY1 (7)	0.20000	1.00000	2.598e-4	6.403e-4	115
Aminoacylase deficiency	Becker nevus syndrome	1	1	ACTB (4)	0.20000	1.00000	2.598e-4	6.403e-4	115
Aminoacylase deficiency	Congenital smooth muscle hamartoma	1	1	ACTB (3)	0.20000	1.00000	2.598e-4	6.403e-4	115
Aminoacylase deficiency	Developmental malformations-deafness-dystonia syndrome	1	1	ACTB (4)	0.20000	1.00000	2.598e-4	6.403e-4	115
Aminoacylase deficiency	Dystonia-deafness syndrome	1	1	ACTB (2)	0.20000	1.00000	2.598e-4	6.403e-4	115
ACTB-associated syndromic thrombocytopenia	Aminoacylase deficiency	1	1	ACTB (2)	0.20000	1.00000	2.598e-4	6.403e-4	115
amyloidosis, hereditary systemic 6	Visceral amyloidosis	1	1	B2M (2)	0.20000	1.00000	2.598e-4	6.403e-4	128
amyotrophic lateral sclerosis type 1	Ureteral calculi	1	1	SOD1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	294
amyotrophic lateral sclerosis type 11	Micropenis	1	1	FIG4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	311
Anaplastic oligoastrocytoma	Central nervous system disease	1	1	IDH2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Anaplastic oligoastrocytoma	Combined d-2- and l-2-hydroxyglutaric aciduria	1	1	IDH2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Angel-shaped phalangoepiphyseal dysplasia	Multiple synostoses syndrome	1	1	GDF5 (6)	0.20000	1.00000	2.598e-4	6.403e-4	
Anhidrotic ectodermal dysplasia	Craniofrontonasal dysplasia	1	1	EDA (2)	0.20000	1.00000	2.598e-4	6.403e-4	76
Anodontia	Severe neonatal spondylometaphyseal dysplasia	1	1	SBDS (2)	0.20000	1.00000	2.598e-4	6.403e-4	205
Anodontia	craniofacial dysplasia - osteopenia syndrome	1	1	IRX5 (4)	0.20000	1.00000	2.598e-4	6.403e-4	205
Anodontia	Tooth and nail syndrome	1	1	MSX1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	205
Anodontia	Witkop syndrome	1	1	MSX1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	205
Anodontia	tooth agenesis, selective, 1	1	1	MSX1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	205
Anonychia	Campomelic dysplasia	1	1	SOX9 (6)	0.20000	1.00000	2.598e-4	6.403e-4	164
Anonychia	Camptomelic dysplasia	1	1	SOX9 (3)	0.20000	1.00000	2.598e-4	6.403e-4	164
Anonychia	Cooks syndrome	1	1	SOX9 (4)	0.20000	1.00000	2.598e-4	6.403e-4	164
Anonychia	isolated Pierre-Robin syndrome	1	1	SOX9 (3)	0.20000	1.00000	2.598e-4	6.403e-4	164
Anonychia	Dominant dystrophic epidermolysis bullosa with absence of skin	1	1	COL7A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
anterior segment dysgenesis 4	Rieger syndrome	1	1	PITX2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	82
Anti-glomerular basement membrane disease	Autoimmune pulmonary alveolar proteinosis	1	1	HLA-DRB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	254
Anti-glomerular basement membrane disease	Heerfordt syndrome	1	0	HLA-DRB1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	254
Anti-glomerular basement membrane disease	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	1	1	CTLA4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Anti-glomerular basement membrane disease	Primary immunodeficiency with defective natural killer cell cytotoxicity	1	1	FCGR3A (4)	0.20000	1.00000	2.598e-4	6.403e-4	254
Anti-nmda receptor encephalitis	IFIH1-related type 1 interferonopathy	1	1	IFIH1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Anti-nmda receptor encephalitis	Carbamazepine hypersensitivity	1	1	HLA-B (2)	0.20000	1.00000	2.598e-4	6.403e-4	179
Anti-nmda receptor encephalitis	Thrombophlebitis	1	1	HLA-B (2)	0.20000	1.00000	2.598e-4	6.403e-4	179
Antisocial personality disorder	Brunner syndrome	1	1	MAOA (5)	0.20000	1.00000	2.598e-4	6.403e-4	120
Antisocial personality disorder	Separation anxiety disorder	1	0	DRD4 (1)	0.20000	1.00000	2.598e-4	6.403e-4	120
Antisocial personality disorder	Colchicine resistance	1	1	ABCB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	120
CYP1B1-related glaucoma with or without anterior segment dysgenesis	Primary congenital glaucoma	1	1	CYP1B1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Anaplastic oligoastrocytoma	D-2-hydroxyglutaric aciduria	1	1	IDH2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
D-2-hydroxyglutaric aciduria	Gemistocytic astrocytoma	1	1	IDH2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
D-bifunctional protein deficiency	Peroxisomal disorder	1	1	HSD17B4 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Dacryocystitis	Multifocal osteomyelitis	1	0	IL1RN (1)	0.20000	1.00000	2.598e-4	6.403e-4	219
De toni-debre-fanconi syndrome	fanconi renotubular syndrome 1	1	1	GATM (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Deaf blind hypopigmentation syndrome	Waardenburg-shah syndrome	1	1	SOX10 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Deafness with congenital heart defects and posterior embryotoxon	Middle aortic syndrome	1	1	JAG1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Deafness-lymphedema-leukemia syndrome	Primary graft dysfunction	1	1	GATA2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	126
Delta zero thalassemia	Delta-beta thalassemia	1	1	HBD (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Delta-sarcoglycan-related limb-girdle muscular dystrophy r6	Salivary gland disease	1	1	SGCD (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Delta-beta thalassemia	Delta-thalassemia	1	1	HBD (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Dermatopathia pigmentosa reticularis	Weber-cockayne syndrome	1	1	KRT14 (6)	0.20000	1.00000	2.598e-4	6.403e-4	270
Developmental delay with facial dysmorphism syndrome	Discordant ventriculoarterial connection	1	1	MED13L (2)	0.20000	1.00000	2.598e-4	6.403e-4	56
Developmental delay with impaired growth and dysmorphic facies	developmental delay, impaired speech, and behavioral abnormalities	1	1	SPTBN1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Developmental delay with impaired growth and dysmorphic facies	developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	1	1	ARFGEF1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Diabetes insipidus	Hereditary arginine vasopressin deficiency	1	1	AVP (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Diabetes insipidus	Eye pain	1	1	POMC (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Diffuse gastric and lobular breast cancer syndrome	Patterned macular dystrophy	1	1	CTNNA1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Digenic hemochromatosis	hemochromatosis type 3	1	1	TFR2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	148
Digenic hemochromatosis	hemochromatosis type 1	1	1	HFE (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Digenic hemochromatosis	hemochromatosis type 2B	1	1	HAMP (3)	0.20000	1.00000	2.598e-4	6.403e-4	148
dilated cardiomyopathy 1L	Salivary gland disease	1	1	SGCD (2)	0.20000	1.00000	2.598e-4	6.403e-4	
dilated cardiomyopathy 2B	Heimler syndrome	1	1	GATAD1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	141
Discordant ventriculoarterial connection	Microvascular angina	1	1	MTHFR (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Discordant ventriculoarterial connection	homocystinuria due to methylene tetrahydrofolate reductase deficiency	1	1	MTHFR (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Discordant ventriculoarterial connection	immunodeficiency 114, folate-responsive	1	1	SLC19A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	56
Dopa-responsive dystonia	GTP cyclohydrolase I deficiency	1	1	GCH1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Dopa-responsive dystonia	Intellectual developmental disorder language neurodegenerative	1	1	NR4A2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Dopa-responsive dystonia	dopa-responsive dystonia due to sepiapterin reductase deficiency	1	1	SPR (4)	0.20000	1.00000	2.598e-4	6.403e-4	
dopa-responsive dystonia due to sepiapterin reductase deficiency	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	1	1	SPR (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Dopamine transporter deficiency syndrome	Mild cognitive impairment	1	1	SLC6A3 (3)	0.20000	1.00000	2.598e-4	6.403e-4	336
Doyne honeycomb retinal dystrophy	PRPH2-related retinopathy	1	1	PRPH2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Doyne honeycomb retinal dystrophy	Factor i deficiency	1	1	CFI (2)	0.20000	1.00000	2.598e-4	6.403e-4	32
Benign fasciculation-cramp syndrome	Genetic peripheral neuropathy	1	0	TRPA1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Benign fasciculation-cramp syndrome	Overactive bladder	1	1	TRPA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Benign neonatal epilepsy	fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	1	1	ATP1A2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Benign neonatal epilepsy	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	1	1	ATP1A2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Benign neonatal epilepsy	neonatal-onset developmental and epileptic encephalopathy	1	1	KCNQ2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	213
Benta disease	Osteopenia	1	1	CARD11 (5)	0.20000	1.00000	2.598e-4	6.403e-4	335
BEST1-related dominant retinopathy	Bestrophinopathy	1	1	BEST1 (7)	0.20000	1.00000	2.598e-4	6.403e-4	415
Bestrophinopathy	PRPH2-related retinopathy	1	1	PRPH2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Beta-aminoisobutyric aciduria	Mild cognitive impairment	1	1	AGXT2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Beta-mannosidosis	tyrosinemia type I	1	1	FAH (2)	0.20000	1.00000	2.598e-4	6.403e-4	199
Beta2-microglobulinic amyloidosis	Visceral amyloidosis	1	1	B2M (2)	0.20000	1.00000	2.598e-4	6.403e-4	128
Bilateral parasagittal parieto-occipital polymicrogyria	Micropenis	1	1	FIG4 (4)	0.20000	1.00000	2.598e-4	6.403e-4	311
bile acid CoA:amino acid N-acyltransferase deficiency	Hypercholanemia	1	1	BAAT (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Bile acid conjugation defect	Hypercholanemia	1	1	BAAT (6)	0.20000	1.00000	2.598e-4	6.403e-4	
Bile duct calculus	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Bile duct calculus	Dysbetalipoproteinemia	1	1	APOE (2)	0.20000	1.00000	2.598e-4	6.403e-4	125
Bile duct calculus	Serum bilirubin level	1	1	UGT1A1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Biliary-renal-neuro-skeletal syndrome	Caroli disease	1	1	IFT56 (3)	0.20000	1.00000	2.598e-4	6.403e-4	74
Achondroplasia	Bladder cancer	1	1	FGFR3 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
bleeding disorder, platelet-type, 21	Extraskeletal ewing sarcoma	1	1	FLI1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Bleeding esophageal varices	Esophageal varices	1	0	SST (1)	0.20000	1.00000	2.598e-4	6.403e-4	340
Bmp4-related ocular growth disorder	Sacral agenesis	1	1	BMP4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	27
Bone marrow diseases	Revesz debuse syndrome	1	1	TINF2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	345
Bone marrow diseases	Revesz syndrome	1	1	TINF2 (6)	0.20000	1.00000	2.598e-4	6.403e-4	345
Bone marrow diseases	dyskeratosis congenita, autosomal dominant 3	1	1	TINF2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	345
Bone mineral density quantitative trait locus	Worth syndrome	1	1	LRP5 (4)	0.20000	1.00000	2.598e-4	6.403e-4	123
Bone mineral density quantitative trait locus	polycystic liver disease 4 with or without kidney cysts	1	1	LRP5 (4)	0.20000	1.00000	2.598e-4	6.403e-4	123
Bone mineral density quantitative trait locus	LRP5-related exudative vitreoretinopathy	1	1	LRP5 (4)	0.20000	1.00000	2.598e-4	6.403e-4	123
Bone mineral density quantitative trait locus	X-linked osteoporosis	1	1	PLS3 (6)	0.20000	1.00000	2.598e-4	6.403e-4	123
Borjeson-forssman-lehmann syndrome	Congenital fusion of ribs	1	1	PHF6 (7)	0.20000	1.00000	2.598e-4	6.403e-4	418
Brain stem neoplasms	Trisomy	1	0	CDKN2A (1)	0.20000	1.00000	2.598e-4	6.403e-4	45
Brain stem neoplasms	melanoma-pancreatic cancer syndrome	1	1	CDKN2A (2)	0.20000	1.00000	2.598e-4	6.403e-4	45
Brain stem neoplasms	Intellectual developmental disorder growth other organ	1	1	PPM1D (3)	0.20000	1.00000	2.598e-4	6.403e-4	45
Brain stem neoplasms	melanoma, cutaneous malignant, susceptibility to, 3	1	1	CDK4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Bronchiolitis	Interstitial systitis	1	0	ADRB2 (1)	0.20000	1.00000	2.598e-4	6.403e-4	163
Budd-chiari syndrome	Congenital factor v deficiency	1	1	F5 (5)	0.20000	1.00000	2.598e-4	6.403e-4	84
Budd-chiari syndrome	East texas bleeding disorder	1	1	F5 (5)	0.20000	1.00000	2.598e-4	6.403e-4	84
Bulbo-spinal atrophy, x-linked	Male breast neoplasms	1	1	AR (2)	0.20000	1.00000	2.598e-4	6.403e-4	204
Bundle branch block	Intellectual developmental disorder expressive speech dysmorphic	1	1	SETBP1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	341
Bundle branch block	Schinzel-Giedion syndrome	1	1	SETBP1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	341
Camptocormia	Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	1	1	RRM2B (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Camptocormia	Myosin storage myopathy	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Biventricular noncompaction cardiomyopathy	Camptocormia	1	0	MYH7 (1)	0.20000	1.00000	2.598e-4	6.403e-4	104
Camptocormia	MYH7-related skeletal myopathy	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Camptocormia	dilated cardiomyopathy 1S	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Carasil syndrome	Cerebral microangiopathy	1	1	HTRA1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Carcinoid syndrome	Carney-stratakis syndrome	1	1	SDHD (4)	0.20000	1.00000	2.598e-4	6.403e-4	78
Carcinoid tumor	Delpire-mcneill syndrome	1	1	SLC12A2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Carcinoma in situ	Pericardial effusion	1	1	PTGS2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	215
Cardiac anomalies - developmental delay - facial dysmorphism syndrome	Discordant ventriculoarterial connection	1	1	MED13L (3)	0.20000	1.00000	2.598e-4	6.403e-4	56
Chuvash erythrocytosis	Von hippel-lindau syndrome	1	1	VHL (8)	0.20000	1.00000	2.598e-4	6.403e-4	403
Cinca syndrome	Cryopyrin-associated periodic syndrome	1	1	NLRP3 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Cinca syndrome	Pericardial effusion	1	1	NLRP3 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Claudication	Mild cognitive impairment	1	0	AGXT2 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Clear cell papillary renal cell carcinoma	Waardenburg syndrome type 2	1	1	MITF (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Cataract-corneal dystrophy syndrome	Cleft eyelid	1	0	PAX6 (1)	0.20000	1.00000	2.598e-4	6.403e-4	25
Cleft eyelid	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	25
Acro-dermo-ungual-lacrimal-tooth syndrome	Cleft lip and cleft of alveolar process of maxilla	1	1	TP63 (2)	0.20000	1.00000	2.598e-4	6.403e-4	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Cleft lip and cleft of alveolar process of maxilla	1	1	TP63 (5)	0.20000	1.00000	2.598e-4	6.403e-4	30
Cleft lip and cleft of alveolar process of maxilla	Limb-mammary syndrome	1	1	TP63 (5)	0.20000	1.00000	2.598e-4	6.403e-4	30
Cleft lip and cleft of alveolar process of maxilla	Rudiger syndrome	1	0	TP63 (1)	0.20000	1.00000	2.598e-4	6.403e-4	30
Cleft lip and cleft of alveolar process of maxilla	Cleft lip/palate-ectodermal dysplasia syndrome	1	1	NECTIN1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	30
Cobalamin metabolism disorder	Homocystinuria with megaloblastic anemia	1	1	MMADHC (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Cole disease	Crystal arthropathy	1	1	ENPP1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	207
Autoimmune polyendocrine syndrome	Collagenous colitis	1	1	HLA-DQA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	1
Collagenous colitis	Esophageal achalasia	1	1	HLA-DQA1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	1
Colorectal cancer susceptibility	colorectal cancer, susceptibility to, 1	1	1	GALNT12 (3)	0.20000	1.00000	2.598e-4	6.403e-4	356
Colorectal cancer susceptibility	POLD1-related polyposis and colorectal cancer syndrome	1	1	POLD1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	356
Colorectal cancer susceptibility	mandibular hypoplasia-deafness-progeroid syndrome	1	1	POLD1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	356
Colorectal cancer susceptibility	POLE-related polyposis and colorectal cancer syndrome	1	1	POLE (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Combined d-2- and l-2-hydroxyglutaric aciduria	Gemistocytic astrocytoma	1	1	IDH2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	Neural tube defects, folate-sensitive	1	1	MTHFD1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Combined molybdoflavoprotein enzyme deficiency	idiopathic multidrug-resistant nephrotic syndrome	1	1	DAAM2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Combined molybdoflavoprotein enzyme deficiency	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	1	1	MOCS1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Combined molybdoflavoprotein enzyme deficiency	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1	1	1	MOCS2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
complex cortical dysplasia with other brain malformations 2	Cortical dysplasia	1	1	KIF5C (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Concussion	PTEN hamartoma tumor syndrome	1	1	PTEN (2)	0.20000	1.00000	2.598e-4	6.403e-4	317
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige	Keratosis palmoplantaris striata	1	1	DSG1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Acro-dermo-ungual-lacrimal-tooth syndrome	Congenital foot deformity	1	1	TP63 (2)	0.20000	1.00000	2.598e-4	6.403e-4	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Congenital foot deformity	1	1	TP63 (5)	0.20000	1.00000	2.598e-4	6.403e-4	30
Congenital fusion of ribs	Congenital hypoplasia of penis	1	0	PHF6 (1)	0.20000	1.00000	2.598e-4	6.403e-4	418
Congenital glucokinase-related hyperinsulinism	Intestinal disaccharide malabsorption	1	1	GCK (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Clapo syndrome	Congenital hemihypertrophy	1	1	PIK3CA (3)	0.20000	1.00000	2.598e-4	6.403e-4	53
Cloves syndrome	Congenital hemihypertrophy	1	1	PIK3CA (3)	0.20000	1.00000	2.598e-4	6.403e-4	53
Congenital hemihypertrophy	Congenital intestinal duplication	1	0	PIK3CA (1)	0.20000	1.00000	2.598e-4	6.403e-4	53
Congenital hernia of foramen of bochdalek	Doyne honeycomb retinal dystrophy	1	1	EFEMP1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital hypothyroidism due to absence of thyroid gland	Interrupted aortic arch	1	0	NKX2-5 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital lactic acidosis	familial hemophagocytic lymphohistiocytosis 5	1	1	STXBP2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	96
Congenital membranous nephropathy	Cryopyrin-associated periodic syndrome	1	1	MME (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital mirror movements	mirror movements 1 and/or agenesis of the corpus callosum	1	1	DCC (4)	0.20000	1.00000	2.598e-4	6.403e-4	430
Congenital myotonia	Smith-lemli-opitz syndrome	1	1	CLCN1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital pain insensitivity	Congenital sensory neuropathy	1	1	NGF (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital secretory diarrhea	Duodenal atresia	1	0	GUCY2C (1)	0.20000	1.00000	2.598e-4	6.403e-4	275
Congenital sensory neuropathy	Overactive bladder	1	1	NGF (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Corneal edema	pitt-hopkins syndrome	1	1	TCF4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	283
Coronary medial sclerosis of infancy	Crystal arthropathy	1	1	ENPP1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	207
Cortical dysgenesis with pontocerebellar hypoplasia	Tubulinopathy	1	1	TUBB3 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Cortical dysplasia	lethal osteosclerotic bone dysplasia	1	1	FAM20C (2)	0.20000	1.00000	2.598e-4	6.403e-4	220
Cramp-fasciculation syndrome	Genetic peripheral neuropathy	1	1	TRPA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Cramp-fasciculation syndrome	Overactive bladder	1	1	TRPA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Craniofrontonasal dysplasia	X-linked intellectual disability-cerebellar hypoplasia syndrome	1	1	OPHN1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	76
Craniofrontonasal dysplasia	craniofrontonasal syndrome	1	1	EFNB1 (7)	0.20000	1.00000	2.598e-4	6.403e-4	
craniofrontonasal syndrome	Dysphoric mood	1	1	EFNB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	115
Crystal arthropathy	hypopigmentation-punctate palmoplantar keratoderma syndrome	1	1	ENPP1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	207
CTNNA1-related diffuse gastric and lobular breast cancer syndrome	Patterned macular dystrophy	1	1	CTNNA1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Cardiac injury	quebec platelet disorder	1	1	PLAU (3)	0.20000	1.00000	2.598e-4	6.403e-4	29
Cardiac injury	dilated cardiomyopathy 1D	1	1	TNNT2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	29
Caroli disease	Liver cyst	1	1	PKD1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Caroli disease	Congenital hypoplasia of aortic arch	1	1	PKHD1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	74
Caroli disease	Periportal fibrosis	1	1	PKHD1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	74
Carotid intima-media thickness	Chronobiology disorder	1	1	PPARG (2)	0.20000	1.00000	2.598e-4	6.403e-4	
cataract 50 with or without glaucoma	Mulibrey nanism	1	1	TRPM3 (2)	0.20000	1.00000	2.598e-4	6.403e-4	122
Caudate atrophy	Cerebral cortical atrophy	1	0	TYROBP (1)	0.20000	1.00000	2.598e-4	6.403e-4	348
Cecal neoplasms	Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	1	1	CTNNB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	81
Cecal neoplasms	CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	1	1	CTNNB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	81
Central apnea	Chromosome xq28 duplication syndrome	1	1	MECP2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Central nervous system demyelinating disease	Spinocerebellar ataxia blindness deafness syndrome	1	1	PEX6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	141
Central nervous system demyelinating disease	megalencephalic leukoencephalopathy with subcortical cysts 1	1	1	MLC1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	141
Central nervous system disease	Paraneoplastic syndrome	1	0	EPO (1)	0.20000	1.00000	2.598e-4	6.403e-4	163
Central nervous system disease	Esophageal stenosis	1	1	SOD2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	163
Central nervous system disease	Gemistocytic astrocytoma	1	1	IDH2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
CEP290-related ciliopathy	Encephalocele	1	1	CEP290 (2)	0.20000	1.00000	2.598e-4	6.403e-4	48
cerebral cavernous malformation 2	Developmental venous anomaly	1	1	CCM2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	249
Cerebral cortical atrophy	Hereditary axonal motor and sensory neuropathy	1	0	BICD2 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Cerebral cortical atrophy	Nasu-hakola disease	1	1	TYROBP (2)	0.20000	1.00000	2.598e-4	6.403e-4	348
Cerebral embolism	Idiopathic infantile hypercalcemia	1	1	KL (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Cerebral embolism	Tumoral calcinosis	1	1	KL (4)	0.20000	1.00000	2.598e-4	6.403e-4	351
Cerebral microangiopathy	Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	1	1	COL4A1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	33
Cerebral microangiopathy	Colpocephaly	1	1	COL4A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	33
Cerebral microangiopathy	Retinal arterial tortuosity	1	1	COL4A1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	33
Cerebral microangiopathy	COL4A1-related disorder	1	1	COL4A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	33
Cerebroretinal microangiopathy with calcifications and cysts	Congenital chromosomal disease	1	1	POT1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Cerebroretinal microangiopathy with calcifications and cysts	tumor predisposition syndrome 3	1	1	POT1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Cerebroretinal microangiopathy with calcifications and cysts	cerebroretinal microangiopathy with calcifications and cysts 2	1	1	STN1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	138
Cerebroretinal microangiopathy with calcifications and cysts	cerebroretinal microangiopathy with calcifications and cysts 1	1	1	CTC1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	138
Cerebrovascular trauma	Coronary syndrome	1	1	PHACTR1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Cervical lymphadenopathy	Middle aortic syndrome	1	0	NF1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	71
Charcot-Marie-Tooth disease axonal type 2F	Genetic peripheral neuropathy	1	1	HSPB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Charcot-Marie-Tooth disease axonal type 2Z	Developmental delay with impaired growth and dysmorphic facies	1	1	MORC2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Charcot-Marie-Tooth disease type 2A1	Congenital hemihypertrophy	1	1	KIF1B (2)	0.20000	1.00000	2.598e-4	6.403e-4	53
Charcot-Marie-Tooth disease type 2T	Cryopyrin-associated periodic syndrome	1	1	MME (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Charcot-Marie-Tooth disease type 4C	Congenital hemihypertrophy	1	1	SH3TC2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	53
CHEK2-related cancer predisposition	Male breast neoplasms	1	1	CHEK2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Camptocormia	Childhood myocerebrohepatopathy spectrum	1	0	POLG (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Chromophobe renal cell carcinoma	Clear cell papillary renal cell carcinoma	1	0	HNF1A (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Chromosome xq28 duplication syndrome	Neonatal encephalopathy	1	1	MECP2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Chromosome xq28 duplication syndrome	Early-onset parkinsonism-intellectual disability syndrome	1	1	RAB39B (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Chromosome xq28 duplication syndrome	Parkinsonism with cognitive impairment	1	1	RAB39B (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Chromosome xq28 duplication syndrome	Waisman syndrome	1	1	RAB39B (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity	Congenital secretory diarrhea	1	1	GUCY2C (2)	0.20000	1.00000	2.598e-4	6.403e-4	275
Chronic pain	Congenital pain insensitivity	1	1	SCN9A (2)	0.20000	1.00000	2.598e-4	6.403e-4	171
Chronic pain	Paroxysmal extreme pain disorder	1	1	SCN9A (5)	0.20000	1.00000	2.598e-4	6.403e-4	171
Chronobiology disorder	Patent ductus venosus	1	1	AHR (2)	0.20000	1.00000	2.598e-4	6.403e-4	203
Chronobiology disorder	Ureteral neoplasms	1	1	AHR (2)	0.20000	1.00000	2.598e-4	6.403e-4	203
Chronobiology disorder	Urinary bladder calculi	1	1	AHR (2)	0.20000	1.00000	2.598e-4	6.403e-4	203
Chronobiology disorder	Urinary bladder stone	1	1	AHR (2)	0.20000	1.00000	2.598e-4	6.403e-4	203
Apolipoprotein a-i amyloidosis	Visceral amyloidosis	1	1	APOA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Aprosencephaly	methylcobalamin deficiency type cblE	1	1	MTRR (2)	0.20000	1.00000	2.598e-4	6.403e-4	155
Arginine vasopressin deficiency	Neurogenic diabetes insipidus	1	1	AVP (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Arginine vasopressin deficiency	Diabetes insipidus	1	1	AVP (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Arginine vasopressin deficiency	Nephrogenic diabetes insipidus	1	1	AVP (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Arginine-glycine amidinotransferase deficiency	De toni-debre-fanconi syndrome	1	1	GATM (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Arginine-glycine amidinotransferase deficiency	Fanconi renotubular syndrome	1	1	GATM (5)	0.20000	1.00000	2.598e-4	6.403e-4	
arterial calcification, generalized, of infancy, 1	Crystal arthropathy	1	1	ENPP1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	207
Arteriovenous hemangioma	telangiectasia, hereditary hemorrhagic, type 1	1	1	ENG (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Arteriovenous hemangioma	Bockenheimer syndrome	1	0	TEK (1)	0.20000	1.00000	2.598e-4	6.403e-4	257
Arteritis	Central retinal vein occlusion	1	1	PROC (2)	0.20000	1.00000	2.598e-4	6.403e-4	325
Arteritis	hereditary thrombophilia due to congenital protein C deficiency	1	1	PROC (2)	0.20000	1.00000	2.598e-4	6.403e-4	325
Arthrogryposis with oculomotor limitation and retinal anomalies	Gorlin syndrome	1	1	PIEZO2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	25
Asymmetric septal hypertrophy	Myosin storage myopathy	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Asymmetric septal hypertrophy	Biventricular noncompaction cardiomyopathy	1	0	MYH7 (1)	0.20000	1.00000	2.598e-4	6.403e-4	104
Asymmetric septal hypertrophy	MYH7-related skeletal myopathy	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Asymmetric septal hypertrophy	dilated cardiomyopathy 1S	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Ataxia with polyneuropathy	Mitochondrial myopathy with sideroblastic anemia	1	0	ATP6 (1)	0.20000	1.00000	2.598e-4	6.403e-4	105
Atrial and intestinal dysrhythmia	Chronobiology disorder	1	1	SGO1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	203
Atypical multiple mole melanoma syndrome	Brain stem neoplasms	1	1	CDKN2A (3)	0.20000	1.00000	2.598e-4	6.403e-4	45
Auriculocondylar syndrome	Urinary retention	1	1	EDN1 (7)	0.20000	1.00000	2.598e-4	6.403e-4	25
Auriculocondylar syndrome	auriculocondylar syndrome 2	1	1	PLCB4 (7)	0.20000	1.00000	2.598e-4	6.403e-4	25
Autoimmune polyendocrine syndrome	autoimmune polyendocrine syndrome type 1	1	1	AIRE (6)	0.20000	1.00000	2.598e-4	6.403e-4	
Autoinflammation, antibody deficiency, and immune dysregulation	Cryopyrin-associated periodic syndrome	1	1	PLCG2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	Cryopyrin-associated periodic syndrome	1	1	PLCG2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
autosomal dominant epilepsy with auditory features	Epilepsy with auditory features	1	1	LGI1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	209
autosomal dominant epilepsy with auditory features	Lateral temporal lobe epilepsy	1	1	LGI1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	209
autosomal dominant hypocalcemia 1	Kidney and ureter calculus	1	1	CASR (2)	0.20000	1.00000	2.598e-4	6.403e-4	
autosomal dominant slowed nerve conduction velocity	Genetic peripheral neuropathy	1	1	ARHGEF10 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
autosomal dominant slowed nerve conduction velocity	Salivary gland disease	1	1	ARHGEF10 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Avoidant restrictive food intake disorder	Bile duct calculus	1	1	APOE (2)	0.20000	1.00000	2.598e-4	6.403e-4	125
Basal cell nevus syndrome	Culler-jones syndrome	1	1	GLI2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	169
Basal cell nevus syndrome	Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	1	1	GLI2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	169
BBS9-related ciliopathy	Post-operative stroke	1	1	BBS9 (2)	0.20000	1.00000	2.598e-4	6.403e-4	30
Peroxisomal disorder	phytanoyl-CoA hydroxylase deficiency	1	1	PHYH (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Peroxisomal disorder	peroxisome biogenesis disorder due to PEX1 defect	1	1	PEX1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Heimler syndrome	peroxisome biogenesis disorder due to PEX1 defect	1	1	PEX1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	141
platelet-type bleeding disorder 18	Thrombasthenia	1	1	RASGRP2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	67
POLR1C-related disorder	Treacher collins syndrome	1	1	POLR1C (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Myosin storage myopathy	Polymorphic ventricular tachycardia	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Biventricular noncompaction cardiomyopathy	Polymorphic ventricular tachycardia	1	0	MYH7 (1)	0.20000	1.00000	2.598e-4	6.403e-4	104
MYH7-related skeletal myopathy	Polymorphic ventricular tachycardia	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
dilated cardiomyopathy 1S	Polymorphic ventricular tachycardia	1	1	MYH7 (2)	0.20000	1.00000	2.598e-4	6.403e-4	104
Cleft lip and cleft of alveolar process of maxilla	Popliteal pterygium syndrome	1	1	IRF6 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Acro-dermo-ungual-lacrimal-tooth syndrome	Post-operative stroke	1	1	TP63 (2)	0.20000	1.00000	2.598e-4	6.403e-4	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Post-operative stroke	1	1	TP63 (5)	0.20000	1.00000	2.598e-4	6.403e-4	30
Limb-mammary syndrome	Post-operative stroke	1	1	TP63 (6)	0.20000	1.00000	2.598e-4	6.403e-4	30
Post-operative stroke	Rudiger syndrome	1	1	TP63 (2)	0.20000	1.00000	2.598e-4	6.403e-4	30
Post-operative stroke	Sweat gland neoplasm	1	1	TP63 (2)	0.20000	1.00000	2.598e-4	6.403e-4	30
Pregnancy disorder	silver-russell syndrome 3	1	1	IGF2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Pregnancy disorder	Refractory anemia	1	1	TNF (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Bockenheimer syndrome	Primary congenital glaucoma	1	1	TEK (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Mucocutaneous venous malformations	Primary congenital glaucoma	1	1	TEK (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital pain insensitivity	Primary erythromelalgia	1	1	SCN9A (2)	0.20000	1.00000	2.598e-4	6.403e-4	171
Paroxysmal extreme pain disorder	Primary erythromelalgia	1	1	SCN9A (5)	0.20000	1.00000	2.598e-4	6.403e-4	171
Bladder cancer	Retinoblastoma	1	1	RB1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Diabetes insipidus	Rhabdomyoma	1	1	POMC (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Rieger syndrome	1	1	COL4A1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Colpocephaly	Rieger syndrome	1	0	COL4A1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Discordant ventriculoarterial connection	Right isomerism	1	1	GDF1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	56
Rieger syndrome	Ring dermoid of cornea	1	1	PITX2 (6)	0.20000	1.00000	2.598e-4	6.403e-4	82
ritscher-schinzel syndrome 1	Ritscher-schinzler syndrome	1	1	WASHC5 (6)	0.20000	1.00000	2.598e-4	6.403e-4	
ritscher-schinzel syndrome 2	Ritscher-schinzler syndrome	1	1	CCDC22 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
17q23.1q23.2 microdeletion syndrome	Sacral agenesis	1	1	TBX4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	27
Amelia	Sacral agenesis	1	1	TBX4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	27
Chromosome 17q23.1-q23.2 duplication syndrome	Sacral agenesis	1	0	TBX4 (1)	0.20000	1.00000	2.598e-4	6.403e-4	27
Coxopodopatellar syndrome	Sacral agenesis	1	1	TBX4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	27
Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	Sacral agenesis	1	1	TBX4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	27
Diabetes insipidus	Sacroiliitis	1	1	POMC (2)	0.20000	1.00000	2.598e-4	6.403e-4	
SAMD9-related spectrum and myeloid neoplasm risk	Tumoral calcinosis	1	1	SAMD9 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Homocystinuria with megaloblastic anemia	methylcobalamin deficiency type cblE	1	1	MTRR (4)	0.20000	1.00000	2.598e-4	6.403e-4	155
Homocystinuria with megaloblastic anemia	methylcobalamin deficiency type cblG	1	1	MTR (2)	0.20000	1.00000	2.598e-4	6.403e-4	155
Houge janssens syndrome	Intellectual developmental disorder growth behavioral	1	1	PPP2R5D (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Houge janssens syndrome	Intellectual developmental disorder macrocephaly hypotonia behavioral	1	1	PPP2R5D (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Hyper-igd syndrome	Hyper-immunoglobulin d syndrome	1	1	MVK (4)	0.20000	1.00000	2.598e-4	6.403e-4	327
hyper-IgM syndrome type 1	Hyper-immunoglobulin m syndrome	1	1	CD40LG (2)	0.20000	1.00000	2.598e-4	6.403e-4	
hyper-IgM syndrome type 2	Hyper-immunoglobulin m syndrome	1	1	AICDA (2)	0.20000	1.00000	2.598e-4	6.403e-4	266
hyper-IgM syndrome type 3	Hyper-immunoglobulin m syndrome	1	1	CD40 (2)	0.20000	1.00000	2.598e-4	6.403e-4	266
hyper-IgM syndrome type 5	Hyper-immunoglobulin m syndrome	1	1	UNG (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Hyper-immunoglobulin d syndrome	methylmalonic aciduria, cblb type	1	1	MMAB (2)	0.20000	1.00000	2.598e-4	6.403e-4	327
Hyper-immunoglobulin m syndrome	X-linked hyper-igm syndrome	1	1	CD40LG (2)	0.20000	1.00000	2.598e-4	6.403e-4	
hypercalcemia, infantile, 2	Kidney and ureter calculus	1	1	SLC34A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
De toni-debre-fanconi syndrome	hypercalcemia, infantile, 2	1	1	SLC34A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Fanconi renotubular syndrome	hypercalcemia, infantile, 2	1	1	SLC34A1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
hyperekplexia 3	Hyperexplexia hereditary	1	1	SLC6A5 (2)	0.20000	1.00000	2.598e-4	6.403e-4	322
Hyperexplexia hereditary	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	1	1	GPHN (2)	0.20000	1.00000	2.598e-4	6.403e-4	322
Hypergammaglobulinemia	Visceral amyloidosis	1	1	B2M (3)	0.20000	1.00000	2.598e-4	6.403e-4	128
hyperinsulinism due to glucokinase deficiency	Intestinal disaccharide malabsorption	1	1	GCK (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Hypertyrosinemia	tyrosinemia type I	1	1	FAH (2)	0.20000	1.00000	2.598e-4	6.403e-4	199
Hypertyrosinemia	tyrosinemia type III	1	1	HPD (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Hypochromic anemia	Microcytic anemia	1	1	SLC11A2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
hypogonadotropic hypogonadism 1 with or without anosmia	Micropenis	1	1	ANOS1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	311
hypoproteinemia, hypercatabolic	Visceral amyloidosis	1	1	B2M (2)	0.20000	1.00000	2.598e-4	6.403e-4	128
Idiopathic infantile hypercalcemia	Intracranial embolism	1	1	KL (2)	0.20000	1.00000	2.598e-4	6.403e-4	
IFT140-related recessive ciliopathy	Mainzer-saldino disease	1	1	IFT140 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
immunodeficiency 114, folate-responsive	Knobloch syndrome	1	1	SLC19A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
immunodeficiency 11b with atopic dermatitis	Osteopenia	1	1	CARD11 (2)	0.20000	1.00000	2.598e-4	6.403e-4	335
Homocystinuria with megaloblastic anemia	inborn disorder of cobalamin metabolism and transport	1	1	MMADHC (3)	0.20000	1.00000	2.598e-4	6.403e-4	
infantile convulsions and choreoathetosis	Paroxysmal dystonic choreoathetosis	1	1	PRRT2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	85
Cryopyrin-associated periodic syndrome	Infantile neurological cutaneous and articular syndrome	1	1	NLRP3 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Infantile neurological cutaneous and articular syndrome	Pericardial effusion	1	1	NLRP3 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Interferonopathy	RNASEH2A-related type 1 interferonopathy	1	1	RNASEH2A (2)	0.20000	1.00000	2.598e-4	6.403e-4	379
Interferonopathy	RNASEH2B-related type 1 interferonopathy	1	1	RNASEH2B (2)	0.20000	1.00000	2.598e-4	6.403e-4	379
Interferonopathy	RNASEH2C-related type 1 interferonopathy	1	1	RNASEH2C (2)	0.20000	1.00000	2.598e-4	6.403e-4	379
Interferonopathy	SAMHD1-related type 1 interferonopathy	1	1	SAMHD1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Intestinal aganglionosis	Waardenburg-shah syndrome	1	1	EDNRB (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Carney-stratakis syndrome	Intestinal cancer	1	1	SDHD (5)	0.20000	1.00000	2.598e-4	6.403e-4	78
Intestinal pseudo-obstruction	TFAP2B-related congenital heart disease spectrum disorder	1	1	TFAP2B (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Intestinal pseudo-obstruction	Microhydranencephaly	1	1	NDE1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Intracranial embolism	Tumoral calcinosis	1	1	KL (4)	0.20000	1.00000	2.598e-4	6.403e-4	351
Cleft lip and cleft of alveolar process of maxilla	IRF6-related condition	1	1	IRF6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
IRIDA syndrome	Microcytic anemia	1	1	TMPRSS6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Dysgenesis of corpus callosum	Juvenile myoclonic epilepsy	1	1	CILK1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	42
Kennedy disease	Male breast neoplasms	1	1	AR (2)	0.20000	1.00000	2.598e-4	6.403e-4	204
Carvajal syndrome	Keratosis palmoplantaris striata	1	1	DSP (6)	0.20000	1.00000	2.598e-4	6.403e-4	206
Erythrokeratodermia-cardiomyopathy syndrome	Keratosis palmoplantaris striata	1	1	DSP (5)	0.20000	1.00000	2.598e-4	6.403e-4	206
arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Keratosis palmoplantaris striata	1	1	DSP (6)	0.20000	1.00000	2.598e-4	6.403e-4	206
Diffuse nonepidermolytic palmoplantar keratoderma	Keratosis palmoplantaris striata	1	1	KRT1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Keratosis of greither	Keratosis palmoplantaris striata	1	1	KRT1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Kidney and ureter calculus	neonatal severe primary hyperparathyroidism	1	1	CASR (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Knobloch syndrome	microcornea-myopic chorioretinal atrophy	1	1	ADAMTS18 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Knobloch syndrome	knobloch syndrome 1	1	1	COL18A1 (8)	0.20000	1.00000	2.598e-4	6.403e-4	
Lateral temporal lobe epilepsy	Sacroiliac arthritis	1	0	RELN (1)	0.20000	1.00000	2.598e-4	6.403e-4	209
Lateral temporal lobe epilepsy	Sacroiliac joint synovitis	1	0	RELN (1)	0.20000	1.00000	2.598e-4	6.403e-4	209
legius syndrome	Neurofibromatosis	1	1	SPRED1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	71
legius syndrome	Neurofibromatosis-noonan syndrome	1	1	SPRED1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	71
Liddle syndrome	renal tubular dysgenesis of genetic origin	1	1	REN (3)	0.20000	1.00000	2.598e-4	6.403e-4	70
Liddle syndrome	pseudohypoaldosteronism, type IB1, autosomal recessive	1	1	SCNN1A (7)	0.20000	1.00000	2.598e-4	6.403e-4	70
Brain tumor-polyposis syndrome	Macrocytic anemia	1	1	APC (2)	0.20000	1.00000	2.598e-4	6.403e-4	37
Familial adenomatous polyposis	Macrocytic anemia	1	1	APC (4)	0.20000	1.00000	2.598e-4	6.403e-4	37
gastric adenocarcinoma and proximal polyposis of the stomach	Macrocytic anemia	1	1	APC (3)	0.20000	1.00000	2.598e-4	6.403e-4	37
classic or attenuated familial adenomatous polyposis	Macrocytic anemia	1	1	APC (3)	0.20000	1.00000	2.598e-4	6.403e-4	37
Majeed syndrome	Multifocal osteomyelitis	1	1	LPIN2 (6)	0.20000	1.00000	2.598e-4	6.403e-4	219
Male breast neoplasms	Partial androgen insensitivity syndrome	1	1	AR (4)	0.20000	1.00000	2.598e-4	6.403e-4	204
Duplication of pituitary gland	Gorlin syndrome	1	1	PTCH2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	25
Cleft eyelid	dyschromatosis universalis hereditaria 3	1	1	ABCB6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Dysgenesis of corpus callosum	koolen-de vries syndrome	1	1	KANSL1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital idiopathic intestinal pseudoobstruction	Dysgenesis of corpus callosum	1	1	FLNA (2)	0.20000	1.00000	2.598e-4	6.403e-4	42
Dysgenesis of corpus callosum	Otopalatodigital spectrum disorder	1	1	FLNA (2)	0.20000	1.00000	2.598e-4	6.403e-4	42
Dysgenesis of corpus callosum	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.20000	1.00000	2.598e-4	6.403e-4	42
dyskeratosis congenita, autosomal dominant 2	Macrocytic anemia	1	1	TERT (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Becker nevus syndrome	Dysphoric mood	1	1	ACTB (5)	0.20000	1.00000	2.598e-4	6.403e-4	115
Congenital smooth muscle hamartoma	Dysphoric mood	1	1	ACTB (4)	0.20000	1.00000	2.598e-4	6.403e-4	115
Developmental malformations-deafness-dystonia syndrome	Dysphoric mood	1	1	ACTB (5)	0.20000	1.00000	2.598e-4	6.403e-4	115
Dysphoric mood	Dystonia-deafness syndrome	1	1	ACTB (3)	0.20000	1.00000	2.598e-4	6.403e-4	115
ACTB-associated syndromic thrombocytopenia	Dysphoric mood	1	1	ACTB (3)	0.20000	1.00000	2.598e-4	6.403e-4	115
dystonia 27	Ullrich congenital muscular dystrophy	1	1	COL6A3 (7)	0.20000	1.00000	2.598e-4	6.403e-4	307
Dystonia, dopa-responsive, with or without hyperphenylalaninemia	Ventricular outflow obstruction	1	1	INS (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Dystonia, dopa-responsive, with or without hyperphenylalaninemia	GTP cyclohydrolase I deficiency	1	1	GCH1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
East syndrome	Paroxysmal dystonic choreoathetosis	1	1	KCNJ10 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Encephalocele	joubert syndrome 17	1	1	CPLANE1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	48
Endocrine neoplasms	leukodystrophy, hypomyelinating, 25	1	1	TMEM163 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Epidermolysis bullosa simplex	Weber-cockayne syndrome	1	1	KRT14 (2)	0.20000	1.00000	2.598e-4	6.403e-4	270
Epilepsy with auditory features	Sacroiliac arthritis	1	1	RELN (3)	0.20000	1.00000	2.598e-4	6.403e-4	209
Epilepsy with auditory features	Sacroiliac joint synovitis	1	1	RELN (3)	0.20000	1.00000	2.598e-4	6.403e-4	209
episodic ataxia type 1	Paroxysmal dystonic choreoathetosis	1	1	KCNA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	85
episodic ataxia type 1	Paroxysmal nonkinesigenic dyskinesia	1	1	KCNA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	85
Erythrocyte galactose epimerase deficiency	Galactosemia	1	1	GALE (4)	0.20000	1.00000	2.598e-4	6.403e-4	358
Erythrocyte udp-galactose-4-epimerase deficiency	Galactosemia	1	1	GALE (3)	0.20000	1.00000	2.598e-4	6.403e-4	358
Erythrocytosis due to tissue hypoxemia	Von hippel-lindau syndrome	1	1	VHL (7)	0.20000	1.00000	2.598e-4	6.403e-4	403
Esophageal and gastric varices	Esophageal varices	1	1	SST (2)	0.20000	1.00000	2.598e-4	6.403e-4	340
Esophageal stenosis	Sengers syndrome	1	1	SOD2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Esophageal stenosis	Extrinsic allergic alveolitis	1	1	SOD2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	163
Extraskeletal ewing sarcoma	Paris-trousseau thrombocytopenia	1	1	FLI1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Extraskeletal ewing sarcoma	Peripheral primitive neuroectodermal tumor	1	0	FLI1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Extrinsic allergic alveolitis	Refractory anemia	1	1	TNF (2)	0.20000	1.00000	2.598e-4	6.403e-4	
familial hemophagocytic lymphohistiocytosis 2	Hereditary hemophagocytic lymphohistiocytosis	1	1	PRF1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	96
familial hemophagocytic lymphohistiocytosis 3	Hereditary hemophagocytic lymphohistiocytosis	1	1	UNC13D (2)	0.20000	1.00000	2.598e-4	6.403e-4	96
familial hemophagocytic lymphohistiocytosis 4	Hereditary hemophagocytic lymphohistiocytosis	1	1	STX11 (2)	0.20000	1.00000	2.598e-4	6.403e-4	96
familial hemophagocytic lymphohistiocytosis 5	Hereditary hemophagocytic lymphohistiocytosis	1	1	STXBP2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	96
familial hypocalciuric hypercalcemia 1	Kidney and ureter calculus	1	1	CASR (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Familial infantile convulsions with paroxysmal choreoathetosis	Paroxysmal dystonic choreoathetosis	1	1	PRRT2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	85
familial juvenile hyperuricemic nephropathy type 2	Liddle syndrome	1	1	REN (3)	0.20000	1.00000	2.598e-4	6.403e-4	70
Fanconi renotubular syndrome	fanconi renotubular syndrome 1	1	1	GATM (5)	0.20000	1.00000	2.598e-4	6.403e-4	
De toni-debre-fanconi syndrome	fanconi renotubular syndrome 3	1	1	EHHADH (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Fanconi renotubular syndrome	fanconi renotubular syndrome 3	1	1	EHHADH (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Dysphasia	fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	1	1	ATP1A2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Focal palmoplantar keratoderma with joint keratoses	Keratosis palmoplantaris striata	1	1	DSG1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
FOXC1-related anterior segment dysgenesis	Rieger syndrome	1	1	FOXC1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	82
17q11.2 microduplication syndrome	Neurofibromatosis	1	1	NF1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	71
Cervical lymphadenopathy	Neurofibromatosis	1	1	NF1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	71
Neurofibromatosis	Watson syndrome	1	1	NF1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	71
17q11.2 microduplication syndrome	Neurofibromatosis-noonan syndrome	1	1	NF1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	71
Cervical lymphadenopathy	Neurofibromatosis-noonan syndrome	1	1	NF1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	71
Neurofibromatosis-noonan syndrome	Watson syndrome	1	1	NF1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	71
Neurofibromatosis	NF2-related schwannomatosis	1	1	NF2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Congenital hypothyroidism due to absence of thyroid gland	NKX2.5-related congenital, conduction and myopathic heart disease	1	1	NKX2-5 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
NMNAT1-related retinopathy	Wallerian degeneration	1	1	NMNAT1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
normophosphatemic familial tumoral calcinosis	Tumoral calcinosis	1	1	SAMD9 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Mandibuloacral dysplasia	obsolete lethal restrictive dermopathy	1	1	ZMPSTE24 (7)	0.20000	1.00000	2.598e-4	6.403e-4	
Ocular dysgenesis	Wagr syndrome	1	1	ELP4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
ocular dysgenesis caused by defects in PAX6 regulation	Wagr syndrome	1	1	ELP4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Neurofibromatosis-noonan syndrome	Osteochondroma	1	1	PTPN11 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Osteochondroma	Werner syndrome	1	1	PTPN11 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Osteolysis, hereditary, of carpal bones with or without nephropathy	Parathyroid disease	1	1	MAFB (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Osteopenia	severe combined immunodeficiency due to CARD11 deficiency	1	1	CARD11 (2)	0.20000	1.00000	2.598e-4	6.403e-4	335
Caffey disease	Osteopenia	1	1	COL1A1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Maternal hypertension	Osteopenia	1	0	COL1A1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Overactive bladder	Urinary retention	1	0	EDN1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Pachyonychia congenita	Sebocystomatosis	1	1	KRT17 (6)	0.20000	1.00000	2.598e-4	6.403e-4	164
Cataract-corneal dystrophy syndrome	Paranoid schizophrenia	1	0	PAX6 (1)	0.20000	1.00000	2.598e-4	6.403e-4	25
Paranoid schizophrenia	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	25
Paroxysmal dystonia	Paroxysmal dystonic choreoathetosis	1	1	PRRT2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	85
Chromosome 17q23.1-q23.2 deletion syndrome	Paroxysmal dystonic choreoathetosis	1	1	SLC2A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Familial infantile convulsions with paroxysmal choreoathetosis	Paroxysmal nonkinesigenic dyskinesia	1	1	PRRT2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	85
Patterned macular dystrophy	PRPH2-related retinopathy	1	1	PRPH2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Adrenocortical carcinoma	Penile neoplasms	1	1	TP53 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Choroid plexus carcinoma	Penile neoplasms	1	1	TP53 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Cardiac tamponade	Pericardial effusion	1	1	PLAT (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Pericardial effusion	Urinary bladder neck obstruction	1	1	PTGS2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	215
Camptocormia	Schilder disease	1	1	POLG (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Anonychia	Sebocystomatosis	1	1	KRT17 (3)	0.20000	1.00000	2.598e-4	6.403e-4	164
Benign neonatal epilepsy	self-limited familial neonatal epilepsy	1	1	KCNQ3 (3)	0.20000	1.00000	2.598e-4	6.403e-4	213
Sengers syndrome	Triokinase and fmn cyclase deficiency	1	1	TKFC (5)	0.20000	1.00000	2.598e-4	6.403e-4	276
Bladder cancer	Splenic neoplasms	1	1	HRAS (2)	0.20000	1.00000	2.598e-4	6.403e-4	17
Penile neoplasms	Splenic neoplasms	1	0	HRAS (1)	0.20000	1.00000	2.598e-4	6.403e-4	17
Arteriovenous hemangioma	TEK-related primary glaucoma	1	1	TEK (2)	0.20000	1.00000	2.598e-4	6.403e-4	257
17q23.1q23.2 microdeletion syndrome	Tetra-amelia syndrome	1	1	TBX4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	27
Amelia	Tetra-amelia syndrome	1	1	TBX4 (4)	0.20000	1.00000	2.598e-4	6.403e-4	27
Chromosome 17q23.1-q23.2 duplication syndrome	Tetra-amelia syndrome	1	1	TBX4 (2)	0.20000	1.00000	2.598e-4	6.403e-4	27
Coxopodopatellar syndrome	Tetra-amelia syndrome	1	1	TBX4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	27
Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension	Tetra-amelia syndrome	1	1	TBX4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	27
Tetra-amelia syndrome	tetraamelia syndrome 1	1	1	WNT3 (7)	0.20000	1.00000	2.598e-4	6.403e-4	27
Mandibuloacral dysplasia	Tight skin contracture syndrome	1	1	ZMPSTE24 (7)	0.20000	1.00000	2.598e-4	6.403e-4	
Cleft lip and cleft of alveolar process of maxilla	tooth agenesis, selective, 1	1	1	MSX1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Cleft lip and cleft of alveolar process of maxilla	Tooth and nail syndrome	1	1	MSX1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Treacher collins syndrome	treacher collins syndrome 3	1	1	POLR1C (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Treacher collins syndrome	treacher collins syndrome 2	1	1	POLR1D (7)	0.20000	1.00000	2.598e-4	6.403e-4	
Treacher collins syndrome	treacher collins syndrome 4	1	1	POLR1B (6)	0.20000	1.00000	2.598e-4	6.403e-4	
fructose-1,6-bisphosphatase deficiency	Galactokinase deficiency	1	1	FBP1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Galactokinase deficiency	Glucocorticoid receptor deficiency/resistance	1	1	NR3C1 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
galactose epimerase deficiency	Galactosemia	1	1	GALE (4)	0.20000	1.00000	2.598e-4	6.403e-4	358
Galactose mutarotase deficiency	Galactosemia	1	1	GALM (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Galactosemia	galactosemia 4	1	1	GALM (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Galactosemia	Udp-glucose-hexose-1-phosphate uridylyltransferase	1	1	GALT (6)	0.20000	1.00000	2.598e-4	6.403e-4	358
Brain tumor-polyposis syndrome	Gastrointestinal neoplasms	1	1	APC (2)	0.20000	1.00000	2.598e-4	6.403e-4	37
Familial adenomatous polyposis	Gastrointestinal neoplasms	1	1	APC (3)	0.20000	1.00000	2.598e-4	6.403e-4	37
gastric adenocarcinoma and proximal polyposis of the stomach	Gastrointestinal neoplasms	1	1	APC (2)	0.20000	1.00000	2.598e-4	6.403e-4	37
classic or attenuated familial adenomatous polyposis	Gastrointestinal neoplasms	1	1	APC (2)	0.20000	1.00000	2.598e-4	6.403e-4	37
Gata2 deficiency	Primary graft dysfunction	1	1	GATA2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	126
GATA2 deficiency with susceptibility to MDS/AML	Primary graft dysfunction	1	1	GATA2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	126
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	Middle aortic syndrome	1	1	GATA6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
generalized epilepsy-paroxysmal dyskinesia syndrome	Paroxysmal nonkinesigenic dyskinesia	1	1	KCNMA1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	85
Genetic lipodystrophy	Hypercholanemia	1	1	EPHX1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Genetic peripheral neuropathy	hereditary peripheral neuropathy	1	1	IGHMBP2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
glaucoma 3, primary congenital, d	Primary congenital glaucoma	1	1	LTBP2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
glaucoma 3, primary congenital, d	Weill-marchesani syndrome	1	1	LTBP2 (7)	0.20000	1.00000	2.598e-4	6.403e-4	
glutaryl-CoA dehydrogenase deficiency	Tyrosinemia	1	1	GCDH (2)	0.20000	1.00000	2.598e-4	6.403e-4	199
Glycinuria with/without oxalate urolithiasis	hartnup disease	1	1	SLC6A19 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Glycogen phosphorylase kinase deficiency	glycogen storage disease IXd	1	1	PHKA1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Glycogen phosphorylase kinase deficiency	glycogen storage disease IXb	1	1	PHKB (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Glycogen phosphorylase kinase deficiency	glycogen storage disease IXc	1	1	PHKG2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Greither disease	Palmoplantar keratoderma with congenital alopecia	1	1	GJA1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	107
Greither disease	Peripheral neuropathy with sensorineural hearing impairment syndrome	1	0	GJB3 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
hawkinsinuria	Hypertyrosinemia	1	1	HPD (2)	0.20000	1.00000	2.598e-4	6.403e-4	
hawkinsinuria	Tyrosinemia	1	1	HPD (6)	0.20000	1.00000	2.598e-4	6.403e-4	
Alport syndrome, x-linked	hearing loss, X-linked 6	1	1	COL4A6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	91
hearing loss, X-linked 6	X-linked nonsyndromic hearing loss	1	1	COL4A6 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Heimler syndrome	Spinocerebellar ataxia blindness deafness syndrome	1	1	PEX6 (4)	0.20000	1.00000	2.598e-4	6.403e-4	141
Hemifacial microsomia	T-cell immunodeficiency	1	1	FOXI3 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Hemihyperplasia	Pregnancy disorder	1	0	IGF2 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Hemihyperplasia	Hepatoblastoma	1	1	IGF2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Dysphasia	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	1	1	ATP1A2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
hemochromatosis type 1	Variegate porphyria	1	1	HFE (2)	0.20000	1.00000	2.598e-4	6.403e-4	251
Digenic hemochromatosis	hemochromatosis type 2A	1	1	HJV (3)	0.20000	1.00000	2.598e-4	6.403e-4	148
Bestrophinopathy	hemochromatosis type 5	1	1	FTH1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	415
Delta-beta thalassemia	Hemoglobin lepore beta thalassemia	1	1	HBD (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Delta-beta thalassemia	Hemoglobinopathy toms river	1	1	HBG2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	18
Hepatic ductular hypoplasia	Middle aortic syndrome	1	0	JAG1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	
Hepatoblastoma	silver-russell syndrome 3	1	1	IGF2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Hepatoblastoma	Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	1	1	CTNNB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	81
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Hepatoblastoma	1	1	CTNNB1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	81
Hereditary arginine vasopressin deficiency	Neurogenic diabetes insipidus	1	1	AVP (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Hereditary arginine vasopressin deficiency	Nephrogenic diabetes insipidus	1	1	AVP (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Hereditary continuous muscle fiber activity	Paroxysmal dystonic choreoathetosis	1	0	KCNA1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	85
Hereditary continuous muscle fiber activity	Paroxysmal nonkinesigenic dyskinesia	1	0	KCNA1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	85
Congenital pain insensitivity	hereditary sensory and autonomic neuropathy type 7	1	1	SCN11A (2)	0.20000	1.00000	2.598e-4	6.403e-4	171
hereditary sensory and autonomic neuropathy type 7	Paroxysmal extreme pain disorder	1	1	SCN11A (2)	0.20000	1.00000	2.598e-4	6.403e-4	171
hereditary spastic paraplegia 8	Ritscher-schinzler syndrome	1	1	WASHC5 (6)	0.20000	1.00000	2.598e-4	6.403e-4	
Mandibuloacral dysplasia	mandibuloacral dysplasia progeroid syndrome	1	1	MTX2 (6)	0.20000	1.00000	2.598e-4	6.403e-4	83
Emery dreifuss muscular dystrophy	Mandibuloacral dysplasia	1	1	LMNA (7)	0.20000	1.00000	2.598e-4	6.403e-4	83
Mandibuloacral dysplasia	Severe lipodystrophic laminopathy	1	1	LMNA (6)	0.20000	1.00000	2.598e-4	6.403e-4	83
Mandibuloacral dysplasia	mandibuloacral dysplasia with type b lipodystrophy	1	1	ZMPSTE24 (7)	0.20000	1.00000	2.598e-4	6.403e-4	
Metaphyseal enchondromatosis	Paroxysmal extreme pain disorder	1	0	IDH1 (1)	0.20000	1.00000	2.598e-4	6.403e-4	171
methylcobalamin deficiency type cblE	Neural tube defects, folate-sensitive	1	1	MTRR (2)	0.20000	1.00000	2.598e-4	6.403e-4	155
methylcobalamin deficiency type cblG	Neural tube defects, folate-sensitive	1	1	MTR (2)	0.20000	1.00000	2.598e-4	6.403e-4	155
Intestinal pseudo-obstruction	microcephaly with lissencephaly and/or hydranencephaly	1	1	NDE1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Microcytic anemia	microcytic anemia with liver iron overload	1	1	SLC11A2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Cleft eyelid	microphthalmia, isolated, with coloboma 7	1	1	ABCB6 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Microspherophakia	Primary congenital glaucoma	1	1	LTBP2 (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Microspherophakia	Weill-marchesani syndrome	1	1	LTBP2 (7)	0.20000	1.00000	2.598e-4	6.403e-4	
Middle aortic syndrome	Watson syndrome	1	1	NF1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	71
Middle aortic syndrome	neurofibromatosis type 1	1	1	NF1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	71
Alport syndrome	Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome	1	1	AMMECR1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	91
Mild cognitive impairment	SLC6A3-related dopamine transporter deficiency syndrome	1	1	SLC6A3 (2)	0.20000	1.00000	2.598e-4	6.403e-4	336
Mirror movements	mirror movements 1 and/or agenesis of the corpus callosum	1	1	DCC (6)	0.20000	1.00000	2.598e-4	6.403e-4	430
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Sengers syndrome	1	1	SLC25A4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	276
Arteriovenous hemangioma	Mucocutaneous venous malformations	1	1	TEK (2)	0.20000	1.00000	2.598e-4	6.403e-4	257
mucopolysaccharidosis type 3A	Sanfilippo syndrome	1	1	SGSH (2)	0.20000	1.00000	2.598e-4	6.403e-4	147
mucopolysaccharidosis type 3B	Sanfilippo syndrome	1	1	NAGLU (2)	0.20000	1.00000	2.598e-4	6.403e-4	147
mucopolysaccharidosis type 3C	Sanfilippo syndrome	1	1	HGSNAT (2)	0.20000	1.00000	2.598e-4	6.403e-4	147
mucopolysaccharidosis type 3D	Sanfilippo syndrome	1	1	GNS (2)	0.20000	1.00000	2.598e-4	6.403e-4	147
Multifocal osteomyelitis	Sclerosis	1	1	IL1RN (2)	0.20000	1.00000	2.598e-4	6.403e-4	219
Dysgenesis of corpus callosum	multiple congenital anomalies-neurodevelopmental syndrome, x-linked	1	1	OTUD5 (2)	0.20000	1.00000	2.598e-4	6.403e-4	42
Multiple synostoses syndrome	Proximal symphalangism	1	1	NOG (4)	0.20000	1.00000	2.598e-4	6.403e-4	
Multiple synostoses syndrome	NOG-related symphalangism spectrum disorder	1	1	NOG (5)	0.20000	1.00000	2.598e-4	6.403e-4	
Myotonia congenita	Smith-lemli-opitz syndrome	1	1	CLCN1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Benign neonatal epilepsy	neonatal encephalopathy with non-epileptic myoclonus	1	1	KCNQ2 (4)	0.20000	1.00000	2.598e-4	6.403e-4	213
Bile duct calculus	Neonatal hyperbilirubinemia	1	1	UGT1A1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Nephrotic syndrome, idiopathic, steroid-resistant	nephrotic syndrome, type 12	1	1	NUP93 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Nephrotic syndrome, idiopathic, steroid-resistant	nephrotic syndrome, type 13	1	1	NUP205 (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Microvascular angina	Neural tube defects, folate-sensitive	1	1	MTHFR (3)	0.20000	1.00000	2.598e-4	6.403e-4	
homocystinuria due to methylene tetrahydrofolate reductase deficiency	Neural tube defects, folate-sensitive	1	1	MTHFR (2)	0.20000	1.00000	2.598e-4	6.403e-4	
Bestrophinopathy	neurodegeneration with brain iron accumulation 9	1	1	FTH1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	415
Trichohepatoenteric syndrome	trichohepatoenteric syndrome 2	1	1	SKIC2 (7)	0.20000	1.00000	2.598e-4	6.403e-4	276
Trichohepatoenteric syndrome	trichohepatoenteric syndrome 1	1	1	SKIC3 (6)	0.20000	1.00000	2.598e-4	6.403e-4	276
TUBB3-related tubulinopathy	Tubulinopathy	1	1	TUBB3 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Tumoral calcinosis	tumoral calcinosis, hyperphosphatemic, familial, 1	1	1	GALNT3 (6)	0.20000	1.00000	2.598e-4	6.403e-4	351
Tyrosinemia	tyrosinemia type I	1	1	FAH (7)	0.20000	1.00000	2.598e-4	6.403e-4	199
Tyrosinemia	tyrosinemia type III	1	1	HPD (6)	0.20000	1.00000	2.598e-4	6.403e-4	
Hypertyrosinemia	tyrosinemia type II	1	1	TAT (2)	0.20000	1.00000	2.598e-4	6.403e-4	199
Tyrosinemia	tyrosinemia type II	1	1	TAT (7)	0.20000	1.00000	2.598e-4	6.403e-4	199
Galactosemia	Udp-glucose 4-epimerase deficiency	1	1	GALE (4)	0.20000	1.00000	2.598e-4	6.403e-4	358
Congenital benign spinal muscular atrophy	Urination disorders	1	1	TRPV4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	218
Brachyrachia	Urination disorders	1	1	TRPV4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	218
Digital arthropathy-brachydactyly, familial	Urination disorders	1	1	TRPV4 (3)	0.20000	1.00000	2.598e-4	6.403e-4	218
Parastremmatic dwarfism	Urination disorders	1	1	TRPV4 (5)	0.20000	1.00000	2.598e-4	6.403e-4	218
Scapuloperoneal spinal muscular atrophy	Urination disorders	1	1	TRPV4 (6)	0.20000	1.00000	2.598e-4	6.403e-4	218
Bilateral multicystic dysplastic kidney	Uterine cancer	1	1	HNF1B (2)	0.20000	1.00000	2.598e-4	6.403e-4	145
Renal dysplasia	Uterine cancer	1	1	HNF1B (2)	0.20000	1.00000	2.598e-4	6.403e-4	145
Giant cell tumor of tendon sheath	Uterine cancer	1	1	HNF1B (2)	0.20000	1.00000	2.598e-4	6.403e-4	145
Multicystic dysplastic kidney	Uterine cancer	1	1	HNF1B (3)	0.20000	1.00000	2.598e-4	6.403e-4	145
Vertebral, cardiac, renal, and limb defects syndrome	vertebral, cardiac, renal, and limb defects syndrome 2	1	1	KYNU (5)	0.20000	1.00000	2.598e-4	6.403e-4	421
Vertebral, cardiac, renal, and limb defects syndrome	vertebral, cardiac, renal, and limb defects syndrome 1	1	1	HAAO (5)	0.20000	1.00000	2.598e-4	6.403e-4	421
Urination disorders	Vitamin e deficiency	1	1	TTPA (4)	0.20000	1.00000	2.598e-4	6.403e-4	
von hippel-lindau disease	Von hippel-lindau syndrome	1	1	VHL (7)	0.20000	1.00000	2.598e-4	6.403e-4	403
Waardenburg syndrome type 2	Waardenburg-shah syndrome	1	1	MITF (3)	0.20000	1.00000	2.598e-4	6.403e-4	186
Waardenburg syndrome type 4A	Waardenburg-shah syndrome	1	1	EDNRB (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Waardenburg syndrome type 4B	Waardenburg-shah syndrome	1	1	EDN3 (3)	0.20000	1.00000	2.598e-4	6.403e-4	186
Waardenburg syndrome type 4C	Waardenburg-shah syndrome	1	1	SOX10 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
11p partial monosomy syndrome	Wagr syndrome	1	1	WT1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	86
Denys drash syndrome	Wagr syndrome	1	1	WT1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	86
Drash syndrome	Wagr syndrome	1	1	WT1 (4)	0.20000	1.00000	2.598e-4	6.403e-4	86
Congenital pectus carinatum	Weill-marchesani syndrome	1	1	FBN1 (7)	0.20000	1.00000	2.598e-4	6.403e-4	28
Coronary artery dissection	Weill-marchesani syndrome	1	1	FBN1 (7)	0.20000	1.00000	2.598e-4	6.403e-4	28
Emery dreifuss muscular dystrophy	Werner syndrome	1	1	LMNA (4)	0.20000	1.00000	2.598e-4	6.403e-4	83
Severe lipodystrophic laminopathy	Werner syndrome	1	1	LMNA (4)	0.20000	1.00000	2.598e-4	6.403e-4	83
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Werner syndrome	1	1	LMNA (4)	0.20000	1.00000	2.598e-4	6.403e-4	83
Lipoatrophic diabetes mellitus	Werner syndrome	1	1	LMNA (3)	0.20000	1.00000	2.598e-4	6.403e-4	83
Malouf syndrome	Werner syndrome	1	1	LMNA (3)	0.20000	1.00000	2.598e-4	6.403e-4	83
Cleft lip and cleft of alveolar process of maxilla	Witkop syndrome	1	1	MSX1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Bladder cancer	Woolly hair nevus	1	1	HRAS (2)	0.20000	1.00000	2.598e-4	6.403e-4	17
Penile neoplasms	Woolly hair nevus	1	1	HRAS (2)	0.20000	1.00000	2.598e-4	6.403e-4	17
X-linked erythropoietic protoporphyria	X-linked sideroblastic anemia	1	1	ALAS2 (7)	0.20000	1.00000	2.598e-4	6.403e-4	
Arts syndrome	X-linked nonsyndromic hearing loss	1	1	PRPS1 (6)	0.20000	1.00000	2.598e-4	6.403e-4	253
Prpp synthetase superactivity	X-linked nonsyndromic hearing loss	1	1	PRPS1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	253
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	X-linked nonsyndromic hearing loss	1	1	PRPS1 (2)	0.20000	1.00000	2.598e-4	6.403e-4	253
phosphoribosylpyrophosphate synthetase superactivity	X-linked nonsyndromic hearing loss	1	1	PRPS1 (3)	0.20000	1.00000	2.598e-4	6.403e-4	253
Xanthinuria	xanthinuria type II	1	1	MOCOS (6)	0.20000	1.00000	2.598e-4	6.403e-4	48
Keratitis ichthyosis hearing loss syndrome	Xeroderma	1	1	GJB2 (3)	0.20000	1.00000	2.598e-4	6.403e-4	68
Bart-pumphrey syndrome	Xeroderma	1	1	GJB2 (2)	0.20000	1.00000	2.598e-4	6.403e-4	68
Waardenburg-shah syndrome	Yemenite deaf-blind hypopigmentation syndrome	1	1	SOX10 (3)	0.20000	1.00000	2.598e-4	6.403e-4	
Chromosome 8p23.1 monosomy	Yorifuji okuno syndrome	1	0	GATA4 (1)	0.20000	1.00000	2.598e-4	6.403e-4	106
Congenital pulmonary valve atresia	Yorifuji okuno syndrome	1	0	GATA4 (1)	0.20000	1.00000	2.598e-4	6.403e-4	106
Testicular anomaly with congenital heart disease	Yorifuji okuno syndrome	1	1	GATA4 (5)	0.20000	1.00000	2.598e-4	6.403e-4	106
B-lymphoblastic leukemia/lymphoma	Burkitt lymphoma	2	2	TCF3 (2), PBX1 (2)	0.05405	0.10526	2.436e-4	6.403e-4	
Cleft lip and palate	Uranostaphyloschisis	2	0	IRF6 (1), ARHGAP29 (1)	0.05263	0.13333	2.415e-4	6.403e-4	
Epithelial ovarian carcinoma	Optic neuritis	2	2	GSTT1 (2), GSTM1 (2)	0.05000	0.15385	2.457e-4	6.403e-4	
Dry eye syndrome	Uveitis	3	1	IL1B (1), IL6 (1), TGFB1 (2)	0.03409	0.09091	2.425e-4	6.403e-4	
Epithelial ovarian carcinoma	Hirschsprung disease	3	3	GSTT1 (2), GSTM1 (2), ERBB2 (4)	0.03226	0.10714	2.386e-4	6.403e-4	
Bile acid malabsorption	Cholelithiasis	2	1	RASL12 (1), SLC51B (4)	0.01418	0.66667	2.413e-4	6.403e-4	
Non-specific syndromic intellectual disability	Tessadori-van haaften neurodevelopmental syndrome	3	3	H4C3 (5), H4C5 (6), H4C9 (5)	0.00806	0.50000	2.567e-4	6.403e-4	
Charcot-marie-tooth disease	Spinocerebellar ataxia	6	6	MME (8), SETX (6), PLD3 (5), IFRD1 (3), POLG (2), PRX (8)	0.02597	0.05769	2.703e-4	6.662e-4	
Hoarding disorder	Pericarditis	2	0	LRRC3B (1), NEK10 (1)	0.05263	0.10526	2.705e-4	6.665e-4	279
Congenital adrenal hyperplasia	Ovarian cysts	2	1	CYP17A1 (3), MSH2 (1)	0.04444	0.18182	2.725e-4	6.715e-4	193
Auditory system disease	Benign prostatic hyperplasia	2	0	BMAL1 (1), RASSF10 (1)	0.04444	0.18182	2.725e-4	6.715e-4	
Patent ductus arteriosus	Uranostaphyloschisis	2	0	FLNA (1), INPP5E (1)	0.05128	0.12500	2.757e-4	6.792e-4	
Spondylosis	Vertebral column disorder	2	0	SOX5 (1), HLA-B (1)	0.04762	0.15385	2.824e-4	6.957e-4	
Dyskinesia	Dyskinesia, drug-induced	2	2	PDYN (2), DRD2 (2)	0.05000	0.13333	2.840e-4	6.995e-4	
Cirrhosis	Liver neoplasms	2	2	KRT8 (3), KRT18 (4)	0.01299	0.66667	2.885e-4	7.106e-4	
Osteosclerosis	Otosclerosis	2	2	LTBP3 (3), TNFSF11 (2)	0.03448	0.25000	2.973e-4	7.322e-4	
Congenital diaphragmatic hernia	Fraser syndrome	2	2	FRAS1 (7), FREM2 (6)	0.05128	0.10000	3.003e-4	7.393e-4	
Arachnodactyly	Ck syndrome	1	1	NSDHL (7)	0.16667	1.00000	3.247e-4	7.577e-4	398
Coach syndrome	Rhyns syndrome	1	1	TMEM67 (6)	0.16667	1.00000	3.247e-4	7.577e-4	315
Coach syndrome	joubert syndrome 1	1	1	INPP5E (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Coach syndrome	MORM syndrome	1	1	INPP5E (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Coach syndrome	OFD1-related ciliopathy	1	1	OFD1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	Uv-sensitive syndrome	1	1	ERCC6 (7)	0.16667	1.00000	3.247e-4	7.577e-4	352
Cockayne syndrome type 1	Uv-sensitive syndrome	1	1	ERCC8 (7)	0.16667	1.00000	3.247e-4	7.577e-4	352
Cohen-gibson syndrome	Weaver syndrome	1	1	EED (7)	0.16667	1.00000	3.247e-4	7.577e-4	53
Colchicine resistance	Hematologic neoplasms	1	1	ABCB1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	120
Cole disease	Pseudoxanthoma elasticum	1	1	ENPP1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	207
combined immunodeficiency due to MALT1 deficiency	Malt lymphoma	1	1	MALT1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	267
combined immunodeficiency due to STIM1 deficiency	Vacuolar myopathy	1	1	STIM1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Cataract-corneal dystrophy syndrome	Commissural facial cleft	1	1	PAX6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	25
Commissural facial cleft	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	25
Conductive hearing loss	kbg syndrome	1	1	ANKRD11 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Conductive hearing loss	Congenital idiopathic intestinal pseudoobstruction	1	1	FLNA (2)	0.16667	1.00000	3.247e-4	7.577e-4	42
Conductive hearing loss	Otopalatodigital spectrum disorder	1	1	FLNA (2)	0.16667	1.00000	3.247e-4	7.577e-4	42
Conductive hearing loss	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.16667	1.00000	3.247e-4	7.577e-4	42
Central areolar choroidal dystrophy	cone dystrophy 3	1	1	GUCA1A (4)	0.16667	1.00000	3.247e-4	7.577e-4	69
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Hyperandrogenism	1	1	CYP21A2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital aortic valve atresia	Malt lymphoma	1	1	FOXP1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	267
Congenital atransferrinemia	Hypochromic microcytic anemia	1	1	TF (3)	0.16667	1.00000	3.247e-4	7.577e-4	245
congenital bile acid synthesis defect 5	Oculopharyngodistal myopathy	1	1	ABCD3 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Sheldon-hall syndrome	1	1	NALCN (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital corneal opacity	Congenital ptosis	1	1	ZFHX4 (2)	0.16667	1.00000	3.247e-4	7.577e-4	280
Congenital diarrhea	Congenital tufting enteropathy	1	1	EPCAM (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital diarrhea	Duodenal atresia	1	1	GUCY2C (3)	0.16667	1.00000	3.247e-4	7.577e-4	275
Benign concentric annular macular dystrophy	Vitelliform macular dystrophy	1	1	IMPG1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	310
Benign mesial temporal lobe epilepsy	Periventricular heterotopia	1	1	CPA6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	255
Benign paroxysmal torticollis of infancy	Hemiplegic migraine	1	1	CACNA1A (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Bernard-soulier syndrome	hereditary von Willebrand disease	1	1	VWF (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Bernard-soulier syndrome	von Willebrand disease type 2B	1	1	VWF (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Bernard-soulier syndrome	platelet-type von Willebrand disease	1	1	GP1BA (8)	0.16667	1.00000	3.247e-4	7.577e-4	
Bernard-soulier syndrome	platelet-type bleeding disorder 18	1	1	RASGRP2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
BEST1-related dominant retinopathy	Retinal cone dystrophy	1	1	BEST1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
BEST1-related dominant retinopathy	Vitelliform macular dystrophy	1	1	BEST1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Beta-ketothiolase deficiency	Carbohydrate metabolism disorder	1	1	ACAT1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Beta-propeller protein-associated neurodegeneration	Hemiplegic migraine	1	1	WDR45 (2)	0.16667	1.00000	3.247e-4	7.577e-4	412
Beukes hip dysplasia	Congenital hip dysplasia	1	1	UFSP2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	15
Bifid nail	Coach syndrome	1	0	OFD1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Bifid nail	Simpson-golabi-behmel syndrome	1	1	OFD1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Bilateral microphthalmos	Palmoplantar keratoderma with congenital alopecia	1	1	GJA1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	107
Bilateral microphthalmos	progressive retinal dystrophy due to retinol transport defect	1	1	RBP4 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Bilateral microtia with deafness and cleft palate syndrome	Congenital small ears	1	1	HOXA2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Birdshot chorioretinopathy	Carbamazepine hypersensitivity	1	1	HLA-B (2)	0.16667	1.00000	3.247e-4	7.577e-4	179
Birdshot chorioretinopathy	Thrombophlebitis	1	0	HLA-B (1)	0.16667	1.00000	3.247e-4	7.577e-4	179
Birdshot chorioretinopathy	Paraparesis	1	1	TECPR2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	179
Blau syndrome	Bronchiolitis obliterans	1	1	NOD2 (7)	0.16667	1.00000	3.247e-4	7.577e-4	401
bleeding disorder, platelet-type, 21	Skeletal ewing sarcoma	1	1	FLI1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Bmp4-related ocular growth disorder	Vitamin a deficiency	1	1	BMP4 (4)	0.16667	1.00000	3.247e-4	7.577e-4	27
Bosma arhinia microphthalmia syndrome	Facioscapulohumeral muscular dystrophy	1	1	SMCHD1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	324
Brain small vessel disease	Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	1	1	COL4A1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	33
Brain small vessel disease	brain small vessel disease 3	1	1	COLGALT1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	33
Brain-lung-thyroid syndrome	Hereditary ataxia	1	1	NKX2-1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Branchial arch abnormalities syndrome	Choanal atresia syndrome	1	1	KMT2D (5)	0.16667	1.00000	3.247e-4	7.577e-4	95
Branchial arch abnormalities syndrome	Congenital small ears	1	1	KMT2D (3)	0.16667	1.00000	3.247e-4	7.577e-4	95
Branchial cleft anomalies	Choanal atresia syndrome	1	1	KMT2D (4)	0.16667	1.00000	3.247e-4	7.577e-4	95
Branchial cleft anomalies	Congenital small ears	1	0	KMT2D (1)	0.16667	1.00000	3.247e-4	7.577e-4	95
BRCA1-related cancer predisposition	Hereditary breast-ovarian cancer syndrome	1	1	BRCA1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
BRCA2-related cancer predisposition	Hereditary breast-ovarian cancer syndrome	1	1	BRCA2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
BRCA2-related cancer predisposition	Bronchus cancer	1	1	BRCA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
BRCA2-related cancer predisposition	Chordoma	1	1	BRCA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
BRCA2-related cancer predisposition	Respiratory system cancer	1	1	BRCA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Bronchiolitis obliterans	Granulomatous inflammatory arthritis-dermatitis-uveitis, familial	1	0	NOD2 (1)	0.16667	1.00000	3.247e-4	7.577e-4	401
Bronchiolitis obliterans	Yao syndrome	1	1	NOD2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	401
Bronchiolitis obliterans	Urinary retention	1	1	EDN1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Bronchus cancer	dyskeratosis congenita, autosomal dominant 2	1	1	TERT (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Bronchus cancer	fanconi anemia complementation group d1	1	1	BRCA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Buschke-ollendorff syndrome	Tietz syndrome	1	1	LEMD3 (4)	0.16667	1.00000	3.247e-4	7.577e-4	143
Butterfly-shaped pigmentary macular dystrophy	PRPH2-related retinopathy	1	1	PRPH2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Butterfly-shaped pigmentary macular dystrophy	Diffuse gastric and lobular breast cancer syndrome	1	1	CTNNA1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Butterfly-shaped pigmentary macular dystrophy	CTNNA1-related diffuse gastric and lobular breast cancer syndrome	1	1	CTNNA1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
CACNA1F-related retinopathy	Ocular albinism	1	1	CACNA1F (2)	0.16667	1.00000	3.247e-4	7.577e-4	384
CACNA2D4-related retinopathy	Retinal cone dystrophy	1	1	CACNA2D4 (6)	0.16667	1.00000	3.247e-4	7.577e-4	69
Butterfly-shaped pigmentary macular dystrophy	Carasil syndrome	1	1	HTRA1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Carbohydrate metabolism disorder	Triose phosphate isomerase deficiency	1	1	TPI1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	371
Carbohydrate metabolism disorder	MPI-congenital disorder of glycosylation	1	1	MPI (2)	0.16667	1.00000	3.247e-4	7.577e-4	371
Carbohydrate metabolism disorder	Transaldolase deficiency	1	1	TALDO1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	371
16q24.3 microdeletion syndrome	Conductive hearing loss	1	1	ANKRD11 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
3mc syndrome 1	Oculopalatosekeletal syndrome	1	1	MASP1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	292
Abcd syndrome	Kleins syndrome	1	1	EDNRB (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Acces syndrome	Aplasia cutis congenita	1	1	UBA2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Acral self-healing collodion baby	Vitamin a deficiency	1	1	TGM1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Acromegaloid facial appearance syndrome	Kleefstra syndrome	1	1	ABCC9 (2)	0.16667	1.00000	3.247e-4	7.577e-4	234
Aland island eye disease	Ocular albinism	1	0	CACNA1F (1)	0.16667	1.00000	3.247e-4	7.577e-4	384
Alcoholic hepatitis	Refractory anemia	1	1	TNF (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Alcoholic hepatitis	Autoimmune uveitis	1	1	CXCL8 (2)	0.16667	1.00000	3.247e-4	7.577e-4	43
Alcoholic hepatitis	X-linked ichthyosis with steryl-sulfatase deficiency	1	1	STS (2)	0.16667	1.00000	3.247e-4	7.577e-4	43
Alkuraya-kucinskas syndrome	Congenital hemivertebra	1	1	BLTP1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
alkylglycerone-phosphate synthase deficiency	Rhizomelic chondrodysplasia punctata	1	1	AGPS (7)	0.16667	1.00000	3.247e-4	7.577e-4	305
Alpha-actinopathy	Congenital nemaline myopathy	1	1	ACTA1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	162
11p partial monosomy syndrome	Ambiguous genitalia	1	1	WT1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	86
Ambiguous genitalia	Denys drash syndrome	1	1	WT1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	86
Ambiguous genitalia	Drash syndrome	1	1	WT1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	86
Ambiguous genitalia	denys-drash syndrome	1	1	WT1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	86
Ambiguous genitalia	wilms tumor 1	1	1	WT1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	86
anemia, nonspherocytic hemolytic, due to G6PD deficiency	Glucose-6-phosphate dehydrogenase deficiency	1	1	G6PD (4)	0.16667	1.00000	3.247e-4	7.577e-4	12
Aneuploidy	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	1	1	KIF11 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Angiofollicular ganglionic hyperplasia	Glucose-6-phosphate dehydrogenase deficiency	1	0	IL6 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Angiolymphoid hyperplasia	Glucose-6-phosphate dehydrogenase deficiency	1	0	IL6 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Anhidrotic ectodermal dysplasia	Christ-siemens-touraine syndrome	1	0	EDA (1)	0.16667	1.00000	3.247e-4	7.577e-4	76
Anomalous pulmonary venous 	Congenital hip dysplasia	1	0	PSMC3 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Anterior cruciate ligament injury	Immune system disorder	1	1	CNR2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	101
Ambiguous genitalia	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	1	1	POR (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Aortic rupture	Congenital pectus carinatum	1	1	FBN1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Aortic rupture	Coronary artery dissection	1	1	FBN1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Cooleys anemia	Cyanosis	1	1	HBB (2)	0.16667	1.00000	3.247e-4	7.577e-4	18
Cyanosis	Dominant beta-thalassemia	1	1	HBB (3)	0.16667	1.00000	3.247e-4	7.577e-4	18
Cystic kidney disease with ventriculomegaly	Nephrotic syndrome, focal segmental type	1	1	CRB2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Cyanosis	Cytochrome-b5 reductase deficiency	1	1	CYB5R3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital hip dysplasia	Deafness with cataract, intellectual disability, and polyneuropathy	1	1	PSMC3 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Deafness with congenital inner ear agenesis, microtia, and microdontia	Oculopalatosekeletal syndrome	1	1	FGF3 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Deafness with labyrinthine aplasia, microtia, and microdontia	Oculopalatosekeletal syndrome	1	1	FGF3 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Delta zero thalassemia	Hemoglobin e disease	1	1	HBD (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Delta-thalassemia	Hemoglobin e disease	1	1	HBD (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Dermatofibrosis lenticularis disseminata	Tietz syndrome	1	1	LEMD3 (3)	0.16667	1.00000	3.247e-4	7.577e-4	143
Congenital factor v deficiency	Diabetes macrovascular complications	1	1	F5 (4)	0.16667	1.00000	3.247e-4	7.577e-4	84
Diabetes macrovascular complications	East texas bleeding disorder	1	1	F5 (3)	0.16667	1.00000	3.247e-4	7.577e-4	84
Diabetes macrovascular complications	thrombophilia due to activated protein c resistance	1	1	F5 (2)	0.16667	1.00000	3.247e-4	7.577e-4	84
Diabetes macrovascular complications	Male infertility motility disorder	1	1	CCDC146 (2)	0.16667	1.00000	3.247e-4	7.577e-4	84
Diabetic foot	Nonobstructive azoospermia	1	1	SLC26A8 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Clapo syndrome	Diaphragmatic malformations	1	1	PIK3CA (3)	0.16667	1.00000	3.247e-4	7.577e-4	53
Cloves syndrome	Diaphragmatic malformations	1	1	PIK3CA (3)	0.16667	1.00000	3.247e-4	7.577e-4	53
Congenital intestinal duplication	Diaphragmatic malformations	1	0	PIK3CA (1)	0.16667	1.00000	3.247e-4	7.577e-4	53
Congenital macrodactylia	Diaphragmatic malformations	1	1	PIK3CA (2)	0.16667	1.00000	3.247e-4	7.577e-4	53
Congenital malformation syndromes involving early overgrowth	Diaphragmatic malformations	1	0	PIK3CA (1)	0.16667	1.00000	3.247e-4	7.577e-4	53
dilated cardiomyopathy 1O	Kleefstra syndrome	1	1	ABCC9 (2)	0.16667	1.00000	3.247e-4	7.577e-4	234
Disseminated superficial actinic porokeratosis	Hyper-igd syndrome	1	1	MVK (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Distal axonal motor neuropathy-myofibrillar myopathy syndrome	Vacuolar myopathy	1	1	HSPB8 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital nemaline myopathy	Distal nebulin myopathy	1	1	NEB (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Dowling degos disease	dowling-degos disease 2	1	1	POFUT1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	
Dubin-johnson syndrome	Pseudoxanthoma elasticum	1	1	ABCC2 (5)	0.16667	1.00000	3.247e-4	7.577e-4	207
Aplasia cutis congenita	Chromosome 19q13.11 deletion syndrome	1	1	UBA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Aplasia cutis congenita	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	1	1	PLEC (4)	0.16667	1.00000	3.247e-4	7.577e-4	229
Aplasia cutis congenita	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (3)	0.16667	1.00000	3.247e-4	7.577e-4	229
Arachnodactyly	Congenital pectus carinatum	1	1	FBN1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Arachnodactyly	Coronary artery dissection	1	1	FBN1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Arachnodactyly	Congenital hernia of foramen of bochdalek	1	0	EFEMP1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Arachnodactyly	Simpson syndrome	1	1	KAT6B (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Arachnodactyly	KAT6B-related multiple congenital anomalies syndrome	1	1	KAT6B (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Arginase deficiency	Immune system disorder	1	1	ARG1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	101
Arhinia-choanal atresia-microphthalmia syndrome	Facioscapulohumeral muscular dystrophy	1	1	SMCHD1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	324
arhinia, choanal atresia, and microphthalmia	Facioscapulohumeral muscular dystrophy	1	1	SMCHD1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	324
arterial calcification, generalized, of infancy, 1	Pseudoxanthoma elasticum	1	1	ENPP1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	207
arthrogryposis multiplex congenita 3, myogenic type	Autosomal recessive ataxia	1	1	SYNE1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Ataxia with oculomotor apraxia	Ataxia with oculomotor apraxia and hypoalbuminemia	1	1	APTX (6)	0.16667	1.00000	3.247e-4	7.577e-4	
Ataxia with oculomotor apraxia	microcephaly, seizures, and developmental delay	1	1	PNKP (7)	0.16667	1.00000	3.247e-4	7.577e-4	
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect	Hereditary ataxia	1	0	SACS (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Ateleiotic dwarfism	Growth hormone-secreting pituitary adenoma	1	1	GH1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
atransferrinemia	Hypochromic microcytic anemia	1	1	TF (3)	0.16667	1.00000	3.247e-4	7.577e-4	245
atypical glycine encephalopathy	Glycine encephalopathy	1	1	SLC6A9 (7)	0.16667	1.00000	3.247e-4	7.577e-4	
Atypical multiple mole melanoma syndrome	Li-fraumeni syndrome	1	1	CDKN2A (3)	0.16667	1.00000	3.247e-4	7.577e-4	45
Autoimmune hemolytic anemia	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	1	1	CTLA4 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Autoimmune hemolytic anemia	Autoinflammatory syndrome with immunodeficiency	1	1	SOCS1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	330
Autoimmune hemolytic anemia	Autoinflammatory syndrome, familial, with or without immunodeficiency	1	1	SOCS1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	330
Autoimmune hemolytic anemia	Autoimmunity-autoinflammation-immunodeficiency syndrome	1	1	SOCS1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	330
Autoimmune hemolytic anemia	Cutis marmorata	1	1	TPP2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
autosomal dominant nebulin-related myopathy	Congenital nemaline myopathy	1	1	NEB (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Autosomal recessive ataxia	autosomal recessive ataxia, Beauce type	1	1	SYNE1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
baraitser-winter syndrome 2	Congenital iris coloboma	1	1	ACTG1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Castleman disease	Glucose-6-phosphate dehydrogenase deficiency	1	1	IL6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
CDKL5 disorder	Retinoschisis	1	1	CDKL5 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Central areolar choroidal dystrophy	PRPH2-related retinopathy	1	1	PRPH2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	69
Central areolar choroidal dystrophy	GUCY2D-related dominant retinopathy	1	1	GUCY2D (3)	0.16667	1.00000	3.247e-4	7.577e-4	69
Cerebellar atrophy with seizures and variable developmental delay	generalized epilepsy-paroxysmal dyskinesia syndrome	1	1	KCNMA1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	85
Cerebelloparenchymal disorder	Ptosis	1	1	PMPCA (2)	0.16667	1.00000	3.247e-4	7.577e-4	158
Cerebral saccular aneurysm	Connective and soft tissue disorder	1	1	COL3A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	350
Cerebral saccular aneurysm	Vascular ehlers-danlos syndrome	1	1	COL3A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	350
Cerebral saccular aneurysm	ehlers-danlos syndrome, vascular type	1	1	COL3A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	350
Cerebral saccular aneurysm	telangiectasia, hereditary hemorrhagic, type 1	1	1	ENG (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Charcot-Marie-Tooth disease type 1A	Paresthesia	1	1	PMP22 (3)	0.16667	1.00000	3.247e-4	7.577e-4	382
CHEK2-related cancer predisposition	Li-fraumeni syndrome	1	1	CHEK2 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Chilblain lupus erythematosus	SAMHD1-related type 1 interferonopathy	1	1	SAMHD1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	159
Childhood myocerebrohepatopathy spectrum	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	1	1	POLG (6)	0.16667	1.00000	3.247e-4	7.577e-4	
Choanal atresia syndrome	kabuki syndrome 1	1	1	KMT2D (5)	0.16667	1.00000	3.247e-4	7.577e-4	95
Choanal atresia syndrome	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	1	1	TXNL4A (3)	0.16667	1.00000	3.247e-4	7.577e-4	95
Cholestasis-pigmentary retinopathy-cleft palate syndrome	Simpson-golabi-behmel syndrome	1	1	MED12 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Cholesteatoma	Middle ear cholesteatoma	1	0	IL2 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Cholesteatoma	factor XIII, b subunit, deficiency of	1	1	F13B (2)	0.16667	1.00000	3.247e-4	7.577e-4	354
Anaplastic oligoastrocytoma	Chordoma	1	1	IDH2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	200
Chordoma	Gemistocytic astrocytoma	1	1	IDH2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	200
Chordoma	Metaphyseal enchondromatosis	1	1	IDH1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Chordoma	fanconi anemia complementation group n	1	1	PALB2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Choroid diseases	Glucose-6-phosphate dehydrogenase deficiency	1	0	IL10 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Choroid diseases	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	1	1	IL10 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Choroideremia	PRPH2-related retinopathy	1	1	PRPH2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	69
Choroideremia	PRPF8-related retinopathy	1	1	PRPF8 (2)	0.16667	1.00000	3.247e-4	7.577e-4	69
Choroideremia	TOPORS-related retinopathy	1	1	TOPORS (2)	0.16667	1.00000	3.247e-4	7.577e-4	69
Christ-siemens-touraine syndrome	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	1	1	EDAR (2)	0.16667	1.00000	3.247e-4	7.577e-4	76
Christ-siemens-touraine syndrome	familial acute necrotizing encephalopathy	1	1	RANBP2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Chromodomain helicase dna binding protein 8 overgrowth syndrome	Congenital ptosis	1	0	CHD8 (1)	0.16667	1.00000	3.247e-4	7.577e-4	280
Chromosome 17p13.3 microdeletion syndrome	Endometrial stromal sarcoma	1	1	YWHAE (2)	0.16667	1.00000	3.247e-4	7.577e-4	225
Chromosome 17p13.3 microdeletion syndrome	Miller-dieker syndrome	1	1	YWHAE (2)	0.16667	1.00000	3.247e-4	7.577e-4	225
Chromosome 22q11.2 microduplication syndrome	Velocardiofacial syndrome	1	1	TBX1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	290
Chromosome xq26.3 duplication syndrome	Growth hormone-secreting pituitary adenoma	1	1	GPR101 (3)	0.16667	1.00000	3.247e-4	7.577e-4	235
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity	Congenital diarrhea	1	1	GUCY2C (4)	0.16667	1.00000	3.247e-4	7.577e-4	275
Congenital factor xi deficiency	Intracranial thrombosis	1	1	F11 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital finger flexion contractures	Sheldon-hall syndrome	1	1	TNNI2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	258
Arachnodactyly	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	1	1	NSDHL (3)	0.16667	1.00000	3.247e-4	7.577e-4	398
Congenital hemivertebra	Right aortic arch	1	0	BLTP1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital hemivertebra	Liver cyst	1	0	PKD1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital hemivertebra	joubert syndrome 1	1	1	INPP5E (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital hemivertebra	MORM syndrome	1	1	INPP5E (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Collagenopathy	Congenital hip dysplasia	1	1	COL2A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	15
Congenital hip dysplasia	Coxa plana	1	0	COL2A1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	15
Congenital hip dysplasia	Czech dysplasia	1	1	COL2A1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	15
Congenital hip dysplasia	Dysspondyloenchondromatosis	1	1	COL2A1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	15
Congenital hip dysplasia	kniest dysplasia	1	1	COL2A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	15
Congenital hypogonadotropic hypogonadism	Schizencephaly	1	1	EMX2 (5)	0.16667	1.00000	3.247e-4	7.577e-4	230
Cataract-corneal dystrophy syndrome	Congenital iris coloboma	1	0	PAX6 (1)	0.16667	1.00000	3.247e-4	7.577e-4	25
Congenital iris coloboma	PAX6-related ocular dysgenesis	1	1	PAX6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	25
Congenital limbs-face contractures-hypotonia-developmental delay syndrome	Sheldon-hall syndrome	1	1	NALCN (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital methemoglobinemia	Cyanosis	1	1	CYB5R3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital mitral valve atresia	Malt lymphoma	1	1	FOXP1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	267
Congenital muscular hypertrophy-cerebral syndrome	Wiedemann-steiner syndrome	1	1	SMC1A (2)	0.16667	1.00000	3.247e-4	7.577e-4	301
congenital myasthenic syndrome 9	Ptosis	1	1	MUSK (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital nemaline myopathy	Zebra body myopathy	1	1	ACTA1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	162
Congenital nemaline myopathy	nemaline myopathy 10	1	1	LMOD3 (3)	0.16667	1.00000	3.247e-4	7.577e-4	162
Congenital nemaline myopathy	Nebulin-related myopathy	1	1	NEB (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital or early infantile cach syndrome	leukoencephalopathy with vanishing white matter 3	1	1	EIF2B3 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
Congenital or early infantile cach syndrome	leukoencephalopathy with vanishing white matter 1	1	1	EIF2B1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
Congenital retinal aneurysm	Retinoschisis	1	1	RS1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital retinal anomaly	Retinoschisis	1	1	RS1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital small ears	kabuki syndrome 1	1	1	KMT2D (2)	0.16667	1.00000	3.247e-4	7.577e-4	95
Congenital small ears	Emery dreifuss muscular dystrophy	1	1	LMNA (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital small ears	Severe lipodystrophic laminopathy	1	1	LMNA (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital stenosis of aortic valve	familial hypobetalipoproteinemia 1	1	1	APOB (2)	0.16667	1.00000	3.247e-4	7.577e-4	201
Congenital stenosis of aortic valve	hypercholesterolemia, autosomal dominant, type B	1	1	APOB (2)	0.16667	1.00000	3.247e-4	7.577e-4	201
Congenital stenosis of aortic valve	Peptic esophagitis	1	0	VDR (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital stenosis of aortic valve	cutis laxa, autosomal dominant 1	1	1	ELN (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital-onset steinert myotonic dystrophy	Myotonic dystrophy	1	1	DMPK (5)	0.16667	1.00000	3.247e-4	7.577e-4	166
Conotruncal anomaly face syndrome	Velocardiofacial syndrome	1	1	TBX1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	290
Constipation	Eye pain	1	0	POMC (1)	0.16667	1.00000	3.247e-4	7.577e-4	101
Constipation	Rhabdomyoma	1	0	POMC (1)	0.16667	1.00000	3.247e-4	7.577e-4	101
Constipation	Sacroiliitis	1	1	POMC (2)	0.16667	1.00000	3.247e-4	7.577e-4	101
Contractures, pterygia, and spondylocarpotarsal fusion syndrome	Sheldon-hall syndrome	1	1	MYH3 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Contractures, pterygia, and variable skeletal fusions syndrome	Sheldon-hall syndrome	1	1	MYH3 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Coronary medial sclerosis of infancy	Pseudoxanthoma elasticum	1	0	ENPP1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	207
Corpus callosum agenesis with abnormal genitalia	Periventricular heterotopia	1	1	ARX (5)	0.16667	1.00000	3.247e-4	7.577e-4	255
Craniocerebral trauma	Intracranial thrombosis	1	1	SERPINC1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Craniofacial anomalies with anterior segment dysgenesis	Polymorphous corneal dystrophy	1	1	VSX1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	87
Craniofacial anomalies with anterior segment dysgenesis	Posterior polymorphous corneal dystrophy	1	1	VSX1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	87
Craniofacial deafness hand syndrome	Kleins syndrome	1	1	PAX3 (6)	0.16667	1.00000	3.247e-4	7.577e-4	186
craniofacial dysplasia - osteopenia syndrome	Hypochromic microcytic anemia	1	1	IRX5 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Cree leukoencephalopathy	leukoencephalopathy with vanishing white matter 3	1	1	EIF2B3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	174
Cree leukoencephalopathy	leukoencephalopathy with vanishing white matter 1	1	1	EIF2B1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	174
Cria syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	1	0	RIPK1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	264
Ambiguous genitalia	Cryptophthalmia	1	1	FREM2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Ambiguous genitalia	Cryptotria	1	0	FREM2 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Neurofibrosarcoma	noonan syndrome with multiple lentigines	1	1	NRAS (2)	0.16667	1.00000	3.247e-4	7.577e-4	
neuronopathy, distal hereditary motor, autosomal dominant	Vacuolar myopathy	1	1	HSPB8 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Neuropathy, congenital hypomyelinating	RHO-related retinopathy	1	1	RHO (2)	0.16667	1.00000	3.247e-4	7.577e-4	243
Hairy cell leukemia	noonan syndrome with multiple lentigines	1	1	BRAF (2)	0.16667	1.00000	3.247e-4	7.577e-4	
46,xx sex reversal	NR2F2 related multiple congenital anomalies/dysmorphic syndrome	1	1	NR2F2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	183
46,xx sex reversal	NR5A1-related sex development disorder	1	1	NR5A1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	183
Ocular albinism	Usher syndrome type 2D	1	1	WHRN (2)	0.16667	1.00000	3.247e-4	7.577e-4	384
oculocutaneous albinism type 1	Retinoschisis	1	1	TYR (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Oculopharyngodistal myopathy	oculopharyngodistal myopathy 1	1	1	LRP12 (6)	0.16667	1.00000	3.247e-4	7.577e-4	
OFD1-related ciliopathy	Simpson-golabi-behmel syndrome	1	1	OFD1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	
Commissural facial cleft	Opitz g/bbb syndrome	1	1	SPECC1L (2)	0.16667	1.00000	3.247e-4	7.577e-4	25
noonan syndrome with multiple lentigines	Osteochondroma	1	1	PTPN11 (2)	0.16667	1.00000	3.247e-4	7.577e-4	49
Aortic rupture	Osteolysis, hereditary multicentric	1	1	MMP2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Growth hormone-secreting pituitary adenoma	Osteoma cutis	1	1	GNAS (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Osteopoikilosis	Tietz syndrome	1	1	LEMD3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	143
Oculopalatosekeletal syndrome	Otodental dysplasia	1	1	FGF3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Oculopalatosekeletal syndrome	Otodental syndrome	1	1	FGF3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Ambiguous genitalia	P450 oxidoreductase deficiency	1	1	POR (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Chordoma	PALB2-related cancer predisposition	1	1	PALB2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Paresthesia	Ventricular outflow obstruction	1	1	INS (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Paris-trousseau thrombocytopenia	Skeletal ewing sarcoma	1	1	FLI1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Peripheral primitive neuroectodermal tumor	Skeletal ewing sarcoma	1	0	FLI1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Commissural facial cleft	Duplication of pituitary gland	1	1	PTCH2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	25
Congenital iris coloboma	dyschromatosis universalis hereditaria 3	1	1	ABCB6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
dyskeratosis congenita, autosomal dominant 2	Respiratory system cancer	1	1	TERT (2)	0.16667	1.00000	3.247e-4	7.577e-4	
dyskeratosis congenita, autosomal recessive 3	Li-fraumeni syndrome	1	1	WRAP53 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
dyskeratosis congenita, autosomal recessive 3	Telomere syndrome	1	1	WRAP53 (2)	0.16667	1.00000	3.247e-4	7.577e-4	77
East syndrome	Littles disease	1	1	KCNJ10 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
East syndrome	Paroxysmal dyskinesia	1	1	KCNJ10 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
episodic ataxia type 1	Paroxysmal dyskinesia	1	1	KCNA1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	85
Extraskeletal myxoid chondrosarcoma	TCF12-related craniosynostosis	1	1	TCF12 (2)	0.16667	1.00000	3.247e-4	7.577e-4	250
Central areolar choroidal dystrophy	EYS-related retinopathy	1	1	EYS (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Facioscapulohumeral muscular dystrophy	immunodeficiency-centromeric instability-facial anomalies syndrome 1	1	1	DNMT3B (5)	0.16667	1.00000	3.247e-4	7.577e-4	324
Factor xi deficiency	Intracranial thrombosis	1	1	F11 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
FADD-related immunodeficiency	Oculopalatosekeletal syndrome	1	1	FADD (3)	0.16667	1.00000	3.247e-4	7.577e-4	
familial hemiplegic migraine	Hemiplegic migraine	1	1	SCN1A (2)	0.16667	1.00000	3.247e-4	7.577e-4	412
fanconi anemia complementation group d1	Hereditary breast-ovarian cancer syndrome	1	1	BRCA2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Chordoma	fanconi anemia complementation group d1	1	1	BRCA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
fanconi anemia complementation group d1	Respiratory system cancer	1	1	BRCA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
fanconi anemia complementation group i	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	1	1	FANCI (2)	0.16667	1.00000	3.247e-4	7.577e-4	181
fanconi anemia complementation group n	Hereditary breast-ovarian cancer syndrome	1	1	PALB2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
fanconi anemia complementation group o	Hereditary breast-ovarian cancer syndrome	1	1	RAD51C (4)	0.16667	1.00000	3.247e-4	7.577e-4	
fanconi anemia, complementation group s	Hereditary breast-ovarian cancer syndrome	1	1	BRCA1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	Hemiplegic migraine	1	1	ATP1A2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
focal segmental glomerulosclerosis 7	Nephrotic syndrome, focal segmental type	1	1	PAX2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
focal segmental glomerulosclerosis 9	Nephrotic syndrome, focal segmental type	1	1	CRB2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Frontal lobe epilepsy	Intracranial hypertension	1	1	SLC4A10 (2)	0.16667	1.00000	3.247e-4	7.577e-4	423
frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Paget disease	1	1	SQSTM1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital hip dysplasia	Hip dislocation-facial dysmorphism syndrome	1	1	TRIM33 (2)	0.16667	1.00000	3.247e-4	7.577e-4	15
Dysfibrinogenemia	hyper-IgM syndrome type 1	1	1	CD40LG (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Dysfibrinogenemia	hyper-IgM syndrome type 5	1	1	UNG (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hyperandrogenism	Right bundle branch block	1	1	BMPR2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hyperandrogenism	Right cardiac ventricular dilatation	1	1	BMPR2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hyperekplexia	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	1	1	GPHN (4)	0.16667	1.00000	3.247e-4	7.577e-4	322
Hyperekplexia	hyperekplexia 3	1	1	SLC6A5 (5)	0.16667	1.00000	3.247e-4	7.577e-4	322
hypertrichotic osteochondrodysplasia Cantu type	Kleefstra syndrome	1	1	ABCC9 (2)	0.16667	1.00000	3.247e-4	7.577e-4	234
Bilateral multicystic dysplastic kidney	Hyperuricemic nephropathy	1	1	HNF1B (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hyperuricemic nephropathy	Renal dysplasia	1	0	HNF1B (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Giant cell tumor of tendon sheath	Hyperuricemic nephropathy	1	1	HNF1B (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hypochromic anemia	Hypochromic microcytic anemia	1	1	SLC11A2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Hypochromic microcytic anemia	Refractory anemia	1	1	TNF (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hypochromic microcytic anemia	Hypochromic sideroblastic anemia	1	1	STEAP3 (7)	0.16667	1.00000	3.247e-4	7.577e-4	245
hypomagnesemia, seizures, and intellectual disability 1	Magnesium metabolism disorder	1	1	CNNM2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	359
hypopigmentation-punctate palmoplantar keratoderma syndrome	Pseudoxanthoma elasticum	1	1	ENPP1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	207
IFIH1-related type 1 interferonopathy	Littles disease	1	1	IFIH1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Glucose-6-phosphate dehydrogenase deficiency	IKBKG-related immunodeficiency with or without ectodermal dysplasia	1	1	IKBKG (2)	0.16667	1.00000	3.247e-4	7.577e-4	12
Glucose-6-phosphate dehydrogenase deficiency	IL10-related early-onset inflammatory bowel disease	1	1	IL10 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
IL10-related early-onset inflammatory bowel disease	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	1	1	IL10 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	Peritoneal fibrosis	1	1	TGFB1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	inflammatory bowel disease, immunodeficiency, and encephalopathy	1	1	TGFB1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection-lymphopenia syndrome	1	1	RIPK1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	264
Immune system disorder	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	1	1	EIF2AK4 (2)	0.16667	1.00000	3.247e-4	7.577e-4	101
Eye pain	Immune system disorder	1	1	POMC (2)	0.16667	1.00000	3.247e-4	7.577e-4	101
Immune system disorder	Rhabdomyoma	1	1	POMC (2)	0.16667	1.00000	3.247e-4	7.577e-4	101
Immune system disorder	Sacroiliitis	1	1	POMC (2)	0.16667	1.00000	3.247e-4	7.577e-4	101
immunodeficiency 37	Malt lymphoma	1	1	BCL10 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	immunodeficiency 57	1	1	RIPK1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	264
Autoimmune hemolytic anemia	immunodeficiency 78 with autoimmunity and developmental delay	1	1	TPP2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Immunodeficiency-centromeric instability-facial anomalies syndrome	immunodeficiency-centromeric instability-facial anomalies syndrome 3	1	1	CDCA7 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Immunodeficiency-centromeric instability-facial anomalies syndrome	immunodeficiency-centromeric instability-facial anomalies syndrome 1	1	1	DNMT3B (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Immunodeficiency-centromeric instability-facial anomalies syndrome	immunodeficiency-centromeric instability-facial anomalies syndrome 4	1	1	HELLS (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Immunodeficiency-centromeric instability-facial anomalies syndrome	immunodeficiency-centromeric instability-facial anomalies syndrome 2	1	1	ZBTB24 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
IMPG1-related dominant retinopathy	Vitelliform macular dystrophy	1	1	IMPG1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	310
IMPG1-related recessive retinopathy	Vitelliform macular dystrophy	1	1	IMPG1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	310
IMPG2-related recessive retinopathy	Vitelliform macular dystrophy	1	1	IMPG2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	310
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	Vacuolar myopathy	1	1	HNRNPA2B1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Glucose-6-phosphate dehydrogenase deficiency	incontinentia pigmenti	1	1	IKBKG (2)	0.16667	1.00000	3.247e-4	7.577e-4	12
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	inflammatory bowel disease 25	1	1	IL10RB (3)	0.16667	1.00000	3.247e-4	7.577e-4	264
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	inflammatory bowel disease 28	1	1	IL10RA (3)	0.16667	1.00000	3.247e-4	7.577e-4	264
inherited pseudoxanthoma elasticum	Pseudoxanthoma elasticum	1	1	ABCC6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	207
Intellectual developmental disorder cataracts myopathy	Post-operative atrial fibrillation	1	1	ZBTB20 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Intellectual developmental disorder expressive speech dysmorphic	Intellectual developmental disorder speech dysmorphic	1	1	SETBP1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	341
Intellectual developmental disorder language autism	Malt lymphoma	1	1	FOXP1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	267
Liver cyst	Periventricular heterotopia	1	0	PKD1 (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Periventricular heterotopia	X-linked lissencephaly	1	1	ARX (4)	0.16667	1.00000	3.247e-4	7.577e-4	255
Periventricular heterotopia	X-linked spasticity-intellectual disability-epilepsy syndrome	1	1	ARX (3)	0.16667	1.00000	3.247e-4	7.577e-4	255
perrault syndrome 5	Ptosis	1	1	TWNK (2)	0.16667	1.00000	3.247e-4	7.577e-4	
perrault syndrome 5	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	1	1	TWNK (6)	0.16667	1.00000	3.247e-4	7.577e-4	181
Post-operative atrial fibrillation	primrose syndrome	1	1	ZBTB20 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Potassium-aggravated myotonia	Sotos syndrome	1	1	SCN4A (3)	0.16667	1.00000	3.247e-4	7.577e-4	170
progressive retinal dystrophy due to retinol transport defect	Vitamin a deficiency	1	1	RBP4 (3)	0.16667	1.00000	3.247e-4	7.577e-4	27
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Telomere syndrome	1	1	RTEL1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	77
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Telomere syndrome	1	1	PARN (2)	0.16667	1.00000	3.247e-4	7.577e-4	77
Hereditary breast-ovarian cancer syndrome	RAD51C-related cancer predisposition	1	1	RAD51C (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Hereditary breast-ovarian cancer syndrome	RAD51D-related cancer predisposition	1	1	RAD51D (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Magnesium metabolism disorder	renal hypomagnesemia 3	1	1	CLDN16 (2)	0.16667	1.00000	3.247e-4	7.577e-4	359
GUCY2D-related dominant retinopathy	Retinal cone dystrophy	1	1	GUCY2D (3)	0.16667	1.00000	3.247e-4	7.577e-4	69
GUCY2D-related recessive retinopathy	Retinal cone dystrophy	1	1	GUCY2D (3)	0.16667	1.00000	3.247e-4	7.577e-4	69
Chilblain lupus erythematosus	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	1	1	TREX1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	159
Retinoschisis	Temperature-sensitive oculocutaneous albinism	1	1	TYR (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Adrenocortical carcinoma	Sapho syndrome	1	1	TP53 (2)	0.16667	1.00000	3.247e-4	7.577e-4	88
Choroid plexus carcinoma	Sapho syndrome	1	1	TP53 (2)	0.16667	1.00000	3.247e-4	7.577e-4	88
Choroid plexus papilloma	Sapho syndrome	1	1	TP53 (4)	0.16667	1.00000	3.247e-4	7.577e-4	88
Refractory anemia	Sapho syndrome	1	1	TNF (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Intellectual developmental disorder speech dysmorphic	intellectual disability-sparse hair-brachydactyly syndrome	1	1	SMARCA2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Intellectual developmental disorder speech dysmorphic	Schinzel-Giedion syndrome	1	1	SETBP1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	341
Intellectual disability and myopathy syndrome	Kleefstra syndrome	1	1	ABCC9 (4)	0.16667	1.00000	3.247e-4	7.577e-4	234
intellectual disability-severe speech delay-mild dysmorphism syndrome	Malt lymphoma	1	1	FOXP1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	267
Intermittent explosive disorder	Paroxysmal dyskinesia	1	1	COMT (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Intervertebral disc displacement	spondyloepiphyseal dysplasia with congenital joint dislocations	1	1	CHST3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Intestinal aganglionosis	Kleins syndrome	1	0	EDNRB (1)	0.16667	1.00000	3.247e-4	7.577e-4	
Cardiac tamponade	Intracranial thrombosis	1	1	PLAT (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Chromosome 17q23.1-q23.2 deletion syndrome	Intraductal noninfiltrating carcinoma	1	1	SLC2A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	99
Glucose transporter type 1 deficiency syndrome	Intraductal noninfiltrating carcinoma	1	1	SLC2A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	99
Epilepsy with myoclonic absence	Intraductal noninfiltrating carcinoma	1	1	SLC2A1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	99
Growth hormone-secreting pituitary adenoma	Isolated somatotropin deficiency	1	1	GH1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
KCND2-related neurodevelopmental disorder with or without seizures	Myoclonic encephalopathy	1	1	KCND2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Kleins syndrome	Waardenburg syndrome type 4A	1	1	EDNRB (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Lactic acidosis	Ptosis	1	0	PMPCA (1)	0.16667	1.00000	3.247e-4	7.577e-4	158
leukoencephalopathy with vanishing white matter 1	Vanishing white matter disease	1	1	EIF2B1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
Congenital or early infantile cach syndrome	leukoencephalopathy with vanishing white matter 2	1	1	EIF2B2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
Cree leukoencephalopathy	leukoencephalopathy with vanishing white matter 2	1	1	EIF2B2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	174
leukoencephalopathy with vanishing white matter 2	Vanishing white matter disease	1	1	EIF2B2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
leukoencephalopathy with vanishing white matter 3	Vanishing white matter disease	1	1	EIF2B3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	174
Congenital or early infantile cach syndrome	leukoencephalopathy with vanishing white matter 4	1	1	EIF2B4 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
Cree leukoencephalopathy	leukoencephalopathy with vanishing white matter 4	1	1	EIF2B4 (2)	0.16667	1.00000	3.247e-4	7.577e-4	174
leukoencephalopathy with vanishing white matter 4	Vanishing white matter disease	1	1	EIF2B4 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
Congenital or early infantile cach syndrome	leukoencephalopathy with vanishing white matter 5	1	1	EIF2B5 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
Cree leukoencephalopathy	leukoencephalopathy with vanishing white matter 5	1	1	EIF2B5 (2)	0.16667	1.00000	3.247e-4	7.577e-4	174
leukoencephalopathy with vanishing white matter 5	Vanishing white matter disease	1	1	EIF2B5 (3)	0.16667	1.00000	3.247e-4	7.577e-4	174
long qt syndrome 5	Long qt syndrome, digenic	1	1	KCNE1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
dilated cardiomyopathy 1E	Long qt syndrome, digenic	1	1	SCN5A (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Magnesium metabolism disorder	Tetany	1	1	CNNM2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	359
Magnesium metabolism disorder	renal hypomagnesemia 4	1	1	EGF (2)	0.16667	1.00000	3.247e-4	7.577e-4	359
Magnesium metabolism disorder	Primary hypomagnesemia with hypocalciuria	1	1	FXYD2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Magnesium metabolism disorder	renal hypomagnesemia 2	1	1	FXYD2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Ambiguous genitalia	Schaaf-yang syndrome	1	1	MAGEL2 (5)	0.16667	1.00000	3.247e-4	7.577e-4	86
Schilder disease	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	1	1	POLG (6)	0.16667	1.00000	3.247e-4	7.577e-4	
Preaxial polydactyly with upper back hypertrichosis	Schizencephaly	1	1	SHH (2)	0.16667	1.00000	3.247e-4	7.577e-4	230
Schizencephaly	Skeletal system disorder	1	0	SHH (1)	0.16667	1.00000	3.247e-4	7.577e-4	230
holoprosencephaly 3	Schizencephaly	1	1	SHH (2)	0.16667	1.00000	3.247e-4	7.577e-4	230
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Schizencephaly	1	1	COL4A1 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Colpocephaly	Schizencephaly	1	1	COL4A1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
SCN4A-related myopathy, autosomal recessive	Sotos syndrome	1	1	SCN4A (2)	0.16667	1.00000	3.247e-4	7.577e-4	170
Hyperuricemic nephropathy	SEC61A1 deficiency	1	1	SEC61A1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	97
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	Sotos syndrome	1	1	SETD2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	Sotos syndrome	1	1	SETD2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Sheldon-hall syndrome	TPM2-related myopathy	1	1	TPM2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	258
sorsby fundus dystrophy	Urinary bladder diseases	1	1	TIMP3 (3)	0.16667	1.00000	3.247e-4	7.577e-4	224
46,xx sex reversal	SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	1	1	SOX3 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
dyskeratosis congenita, autosomal dominant 2	Telomere syndrome	1	1	TERT (2)	0.16667	1.00000	3.247e-4	7.577e-4	
thrombocytopenia 2	Thrombocytopenia with normal platelets	1	1	ANKRD26 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
thrombocytopenia 4	Thrombocytopenia with normal platelets	1	1	CYCS (4)	0.16667	1.00000	3.247e-4	7.577e-4	
thrombocytopenia 5	Thrombocytopenia with normal platelets	1	1	ETV6 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
thrombocytopenia 7	Thrombocytopenia with normal platelets	1	1	IKZF5 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Tietz syndrome	Waardenburg syndrome type 2	1	1	MITF (6)	0.16667	1.00000	3.247e-4	7.577e-4	
Chilblain lupus erythematosus	TREX1-related type 1 interferonopathy	1	1	TREX1 (6)	0.16667	1.00000	3.247e-4	7.577e-4	159
Li-fraumeni syndrome	Trisomy	1	1	CDKN2A (3)	0.16667	1.00000	3.247e-4	7.577e-4	45
Central areolar choroidal dystrophy	TTLL5-related retinopathy	1	1	TTLL5 (2)	0.16667	1.00000	3.247e-4	7.577e-4	69
Chilblain lupus erythematosus	Type i interferonopathy	1	1	TREX1 (7)	0.16667	1.00000	3.247e-4	7.577e-4	159
Upper extremity deformity, congenital	Weaver syndrome	1	1	EZH2 (6)	0.16667	1.00000	3.247e-4	7.577e-4	53
Urinary bladder diseases	Ventricular outflow obstruction	1	1	INS (2)	0.16667	1.00000	3.247e-4	7.577e-4	224
Adrenocortical carcinoma	Urogenital neoplasms	1	1	TP53 (2)	0.16667	1.00000	3.247e-4	7.577e-4	88
Choroid plexus carcinoma	Urogenital neoplasms	1	1	TP53 (3)	0.16667	1.00000	3.247e-4	7.577e-4	88
Nephrotic syndrome, focal segmental type	Ventriculomegaly with cystic kidney disease	1	1	CRB2 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Aortic rupture	vitamin K-dependent clotting factors, combined deficiency of, type 2	1	1	VKORC1 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Intracranial thrombosis	von Willebrand disease type 2B	1	1	VWF (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Commissural facial cleft	Waardenburg syndrome type 2	1	1	MITF (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Kleins syndrome	Waardenburg syndrome type 2	1	1	MITF (2)	0.16667	1.00000	3.247e-4	7.577e-4	186
Kleins syndrome	Waardenburg syndrome type 4B	1	1	EDN3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	186
Clapo syndrome	Weaver syndrome	1	1	PIK3CA (3)	0.16667	1.00000	3.247e-4	7.577e-4	53
Cloves syndrome	Weaver syndrome	1	1	PIK3CA (3)	0.16667	1.00000	3.247e-4	7.577e-4	53
Congenital intestinal duplication	Weaver syndrome	1	0	PIK3CA (1)	0.16667	1.00000	3.247e-4	7.577e-4	53
Hemiplegic migraine	X-linked cerebral cerebellar coloboma syndrome	1	0	WDR45 (1)	0.16667	1.00000	3.247e-4	7.577e-4	412
46,xx sex reversal	X-linked congenital generalized hypertrichosis	1	1	SOX3 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Aortic rupture	X-linked distal spinal muscular atrophy	1	1	ATP7A (6)	0.16667	1.00000	3.247e-4	7.577e-4	
Aortic rupture	X-linked distal spinal muscular atrophy type 3	1	1	ATP7A (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Dysfibrinogenemia	X-linked hyper-igm syndrome	1	1	CD40LG (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hemiplegic migraine	X-linked optic atrophy	1	0	WDR45 (1)	0.16667	1.00000	3.247e-4	7.577e-4	412
Diaphragmatic malformations	X-linked osteoporosis	1	1	PLS3 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Retinoschisis	X-linked retinoschisis	1	1	RS1 (7)	0.16667	1.00000	3.247e-4	7.577e-4	
xeroderma pigmentosum group B	Xeroderma pigmentosum-cockayne syndrome	1	1	ERCC3 (4)	0.16667	1.00000	3.247e-4	7.577e-4	113
xeroderma pigmentosum group D	Xeroderma pigmentosum-cockayne syndrome	1	1	ERCC2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	113
xeroderma pigmentosum group F	Xeroderma pigmentosum-cockayne syndrome	1	1	ERCC4 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
xeroderma pigmentosum group G	Xeroderma pigmentosum-cockayne syndrome	1	1	ERCC5 (4)	0.16667	1.00000	3.247e-4	7.577e-4	113
Malocclusion	Prognathism	1	1	ADAMTS1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Malocclusion	poirier-bienvenu neurodevelopmental syndrome	1	1	CSNK2B (2)	0.16667	1.00000	3.247e-4	7.577e-4	
MED12-related intellectual disability syndrome	Simpson-golabi-behmel syndrome	1	1	MED12 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Li-fraumeni syndrome	melanoma-pancreatic cancer syndrome	1	1	CDKN2A (3)	0.16667	1.00000	3.247e-4	7.577e-4	45
Aortic rupture	menkes disease	1	1	ATP7A (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Cyanosis	methemoglobinemia due to deficiency of methemoglobin reductase	1	1	CYB5R3 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hypochromic microcytic anemia	microcytic anemia with liver iron overload	1	1	SLC11A2 (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital iris coloboma	microphthalmia, isolated, with coloboma 7	1	1	ABCB6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital small ears	Microtia	1	1	HOXA2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Miller-dieker syndrome	Postaxial acrofacial dysostosis	1	1	DHODH (5)	0.16667	1.00000	3.247e-4	7.577e-4	225
Malt lymphoma	Mucosa-associated lymphoma	1	1	BCL10 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
myopathy caused by variation in FKRP	Paresthesia	1	1	FKRP (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Myotonia	Sotos syndrome	1	1	SCN4A (2)	0.16667	1.00000	3.247e-4	7.577e-4	170
Interrupted aortic arch	Myotonic dystrophy	1	1	NKX2-5 (2)	0.16667	1.00000	3.247e-4	7.577e-4	166
Myotonic dystrophy	NKX2.5-related congenital, conduction and myopathic heart disease	1	1	NKX2-5 (2)	0.16667	1.00000	3.247e-4	7.577e-4	166
Nasodigitoacoustic syndrome	Simpson-golabi-behmel syndrome	1	1	GPC4 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital nemaline myopathy	nemaline myopathy 2	1	1	NEB (4)	0.16667	1.00000	3.247e-4	7.577e-4	
Congenital nemaline myopathy	nemaline myopathy 8	1	1	KLHL40 (4)	0.16667	1.00000	3.247e-4	7.577e-4	162
Congenital nemaline myopathy	nemaline myopathy 9	1	1	KLHL41 (4)	0.16667	1.00000	3.247e-4	7.577e-4	162
Nephrotic syndrome, focal segmental type	Papillorenal syndrome	1	1	PAX2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Neural tube defects, susceptibility to	Yellow nail syndrome	1	1	CELSR1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	109
Arachnodactyly	FZD4-related exudative vitreoretinopathy	1	1	FZD4 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
G6PD deficiency	Glucose-6-phosphate dehydrogenase deficiency	1	1	G6PD (4)	0.16667	1.00000	3.247e-4	7.577e-4	12
glyceronephosphate O-acyltransferase deficiency	Rhizomelic chondrodysplasia punctata	1	1	GNPAT (7)	0.16667	1.00000	3.247e-4	7.577e-4	305
Glycine encephalopathy	multiple mitochondrial dysfunctions syndrome 7	1	1	GCSH (5)	0.16667	1.00000	3.247e-4	7.577e-4	
GPR143-related foveal hypoplasia	Ocular albinism	1	1	GPR143 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Growth hormone-secreting pituitary adenoma	X-linked acrogigantism due to xq26 microduplication	1	1	GPR101 (2)	0.16667	1.00000	3.247e-4	7.577e-4	235
Central areolar choroidal dystrophy	GUCY2D-related recessive retinopathy	1	1	GUCY2D (3)	0.16667	1.00000	3.247e-4	7.577e-4	69
hartnup disease	Iminoglycinuria	1	1	SLC6A19 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Hematologic neoplasms	thrombocytopenia 5	1	1	ETV6 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hemiplegic migraine	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	1	1	ATP1A2 (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Hemoglobin e disease	Intellectual developmental disorder hemoglobin persistence	1	1	BCL11A (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Cooleys anemia	Hemoglobin e disease	1	1	HBB (3)	0.16667	1.00000	3.247e-4	7.577e-4	18
Hemoglobin e disease	Hemoglobin lepore beta thalassemia	1	1	HBD (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Cyanosis	Hemoglobinopathy toms river	1	1	HBG2 (5)	0.16667	1.00000	3.247e-4	7.577e-4	18
Hereditary antithrombin deficiency	Intracranial thrombosis	1	1	SERPINC1 (5)	0.16667	1.00000	3.247e-4	7.577e-4	
Hereditary ataxia	Spastic ataxia of charlevoix-saguenay	1	1	SACS (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hereditary ataxia	NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	1	1	NKX2-1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hereditary breast-ovarian cancer syndrome	PALB2-related cancer predisposition	1	1	PALB2 (2)	0.16667	1.00000	3.247e-4	7.577e-4	
Hereditary continuous muscle fiber activity	Paroxysmal dyskinesia	1	1	KCNA1 (2)	0.16667	1.00000	3.247e-4	7.577e-4	85
Hereditary hyperekplexia	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	1	1	GPHN (4)	0.16667	1.00000	3.247e-4	7.577e-4	322
Hereditary hyperekplexia	hyperekplexia 3	1	1	SLC6A5 (4)	0.16667	1.00000	3.247e-4	7.577e-4	322
Hereditary neuropathy with liability to pressure palsies	Paresthesia	1	1	PMP22 (4)	0.16667	1.00000	3.247e-4	7.577e-4	382
hereditary von Willebrand disease	Intracranial thrombosis	1	1	VWF (3)	0.16667	1.00000	3.247e-4	7.577e-4	
Toxic nodular goiter	Uterine polyp	2	0	NFIA (1), TERT (1)	0.05000	0.11765	3.122e-4	7.577e-4	
Galloway-mowat syndrome	Genetic steroid-resistant nephrotic syndrome	2	2	NUP107 (5), NUP133 (6)	0.04444	0.16667	3.080e-4	7.577e-4	20
Galloway-mowat syndrome	Hereditary steroid-resistant nephrotic syndrome	2	2	NUP107 (5), NUP133 (6)	0.04444	0.16667	3.080e-4	7.577e-4	20
Moyamoya disease	Peripheral vascular disease	3	0	HDAC9 (1), TWIST1 (1), DOK7 (1)	0.03226	0.09091	3.112e-4	7.577e-4	
Cerebral amyloid angiopathy	Vascular dementia	5	3	APP (6), ITM2B (3), APOE (3), GRIK2 (1), PRNP (1)	0.02564	0.07042	3.081e-4	7.577e-4	
Appendicitis	Testicular disease	2	1	PPP3CA (3), INHBB (1)	0.04651	0.14286	3.291e-4	7.678e-4	
Developmental dysplasia of the hip	Multiple system atrophy	2	0	LOXL4 (1), PYROXD2 (1)	0.04651	0.14286	3.291e-4	7.678e-4	
Multinodular goiter	Urinary system disease	2	0	BCAS3 (1), MACROD2 (1)	0.04762	0.13333	3.300e-4	7.696e-4	
Hereditary parkinson disease	Secondary parkinson disease	2	2	PRKN (2), SNCA (4)	0.04762	0.13333	3.300e-4	7.696e-4	
Epidermolysis bullosa	Fraser syndrome	2	1	FREM2 (6), BCLAF1 (1)	0.05000	0.10000	3.316e-4	7.734e-4	
Brachydactyly	Cryptorchidism	2	1	HOXD13 (6), NIPBL (1)	0.05000	0.10000	3.316e-4	7.734e-4	111
Benign prostatic hyperplasia	Testicular carcinoma	3	0	HNF1B (1), TERT (1), CLPTM1L (1)	0.03226	0.08571	3.369e-4	7.855e-4	
Osteonecrosis	Sarcopenia	2	0	PTPRD (1), DMAC1 (1)	0.04082	0.18182	3.389e-4	7.901e-4	
Brain cancer	Small cell lung carcinoma	2	0	FCHO2 (1), FOXN3 (1)	0.02105	0.40000	3.415e-4	7.961e-4	
Hyperaldosteronism	Sick sinus syndrome	2	2	CACNA1D (2), KCNJ5 (6)	0.04878	0.11111	3.508e-4	8.178e-4	
Hyperaldosteronism	Potassium deficiency	2	0	B3GLCT (1), RXFP2 (1)	0.04878	0.11111	3.508e-4	8.178e-4	
Pharyngeal disorder	Rosacea	2	0	IKZF1 (1), SPMIP7 (1)	0.04545	0.14286	3.516e-4	8.195e-4	
Clonal hematopoiesis	Ileocolitis	2	0	LY75 (1), LY75-CD302 (1)	0.03175	0.25000	3.587e-4	8.358e-4	
Bell's palsy	Facial nerve disorder	2	0	CDC5L (1), SUPT3H (1)	0.03175	0.25000	3.587e-4	8.358e-4	
Congenital diaphragmatic hernia	Syndactyly	2	0	GLI3 (1), FREM2 (1)	0.04878	0.10000	3.645e-4	8.493e-4	
Cleft face	White sutton syndrome	1	0	GLI2 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Clonal cytopenia of undetermined significance	Transient myeloproliferative disorder	1	0	RUNX1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Cochlear diseases	Navajo neurohepatopathy	1	1	MPV17 (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Colonic polyps	Thoracic disease	1	1	ILK (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Combined deficiency of factor v and factor viii	Combined immunodeficiency, enteropathy spectrum	1	1	MCFD2 (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Combined factor v and factor viii deficiency	Combined immunodeficiency, enteropathy spectrum	1	1	MCFD2 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Activated pi3k-delta syndrome	Combined immunodeficiency with facio-oculo-skeletal anomalies	1	1	PIK3CD (3)	0.20000	0.50000	3.896e-4	8.521e-4	375
Combined immunodeficiency with granulomatosis	Salla disease	1	1	RAG2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	176
Combined immunodeficiency-multiple intestinal atresia	Heparin cofactor 2 deficiency	1	1	PI4KA (2)	0.20000	0.50000	3.896e-4	8.521e-4	269
Congenital bone marrow failure syndrome	Growth hormone insensitivity syndrome with immune dysregulation	1	1	ERCC6L2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Congenital cardiomyopathy	Myoclonic epilepsy with ragged red fibers	1	0	ND5 (1)	0.20000	0.50000	3.896e-4	8.521e-4	26
Congenital facial anomaly	Hypoplastic anemia	1	1	CAD (2)	0.20000	0.50000	3.896e-4	8.521e-4	347
Carbamoyl phosphate synthetase deficiency	Congenital facial anomaly	1	0	CAD (1)	0.20000	0.50000	3.896e-4	8.521e-4	347
Congenital facial anomaly	Congenital hypoplastic anemia	1	0	CAD (1)	0.20000	0.50000	3.896e-4	8.521e-4	347
Benign epithelial tumor of salivary glands	Well-differentiated liposarcoma	1	0	HMGA2 (1)	0.20000	0.50000	3.896e-4	8.521e-4	361
Bietti crystalline corneoretinal dystrophy	Diastolic heart failure	1	1	ABCA4 (2)	0.20000	0.50000	3.896e-4	8.521e-4	150
Bifunctional enzyme deficiency	Fatty acid metabolism disorder	1	1	HSD17B4 (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Bilateral perisylvian polymicrogyria	Combined immunodeficiency-multiple intestinal atresia	1	0	PI4KA (1)	0.20000	0.50000	3.896e-4	8.521e-4	269
Biliary tract neoplasms	Congenital aural atresia	1	1	FGFR2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	38
Bladder neck obstruction	Ovarian diseases	1	1	CYP19A1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	215
Blast crisis	Myelogenous leukemia	1	1	BCR (2)	0.20000	0.50000	3.896e-4	8.521e-4	266
Blast crisis	Chromosome 22q11.2 microdeletion syndrome	1	1	BCR (3)	0.20000	0.50000	3.896e-4	8.521e-4	266
Blepharophimosis intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome	1	1	SMARCA2 (4)	0.20000	0.50000	3.896e-4	8.521e-4	
Bohring syndrome	Cold-induced sweating syndrome	1	1	KLHL7 (3)	0.20000	0.50000	3.896e-4	8.521e-4	343
Bohring syndrome	Crisponi syndrome	1	1	KLHL7 (2)	0.20000	0.50000	3.896e-4	8.521e-4	343
Bor syndrome	Branchiooculofacial syndrome	1	1	EYA1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	134
Bowed long bones	Bruck syndrome	1	1	PLOD2 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Brachydactyly-elbow wrist dysplasia syndrome	Pfaundler-hurler syndrome	1	1	PITX1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	300
Brown-vialetto-van laere syndrome	Bulbar palsy	1	1	SLC52A3 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Bruck syndrome	Buruli ulcer	1	1	PLOD2 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Calcium pyrophosphate deposition	Chondrocalcinosis	1	1	ANKH (6)	0.20000	0.50000	3.896e-4	8.521e-4	208
Calcium pyrophosphate deposition	Craniometaphyseal dysplasia	1	1	ANKH (6)	0.20000	0.50000	3.896e-4	8.521e-4	208
Canavan disease	Olmsted syndrome	1	0	SPATA22 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Capillary leak syndrome	Coronary artery vasospasm	1	0	PON1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	326
Congenital hemangioma	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	1	1	GNA11 (2)	0.20000	0.50000	3.896e-4	8.521e-4	65
Congenital kidney anomaly	Polycystic kidney disease with tuberous sclerosis	1	1	PKD1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	48
Congenital kidney anomaly	Renovascular hypertension	1	0	PKD1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	48
Congenital kidney anomaly	Pancreatic cyst	1	0	PKD1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Congenital leukocyte adherence deficiency	Leukocyte disorders	1	1	ITGB2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Congenital palmoplantar and perioral keratoderma of olmsted	Keratosis follicularis spinulosa decalvans, x-linked	1	1	MBTPS2 (5)	0.20000	0.50000	3.896e-4	8.521e-4	346
Congenital respiratory system anomaly	Eosinophilic leukemia	1	1	PDGFRA (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Congenital thrombotic thrombocytopenic purpura	Three-vessel coronary artery disease	1	1	ADAMTS13 (3)	0.20000	0.50000	3.896e-4	8.521e-4	325
Conjunctivitis	Leukocyte disorders	1	1	PLG (2)	0.20000	0.50000	3.896e-4	8.521e-4	246
Alagille syndrome	Corneal opacity	1	1	JAG1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	373
Coronary artery vasospasm	Renovascular hypertension	1	1	NOS3 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Cortical occipital malformations	Intellectual developmental disorder speech autism dysmorphic	1	0	TBR1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	220
Coumarin resistance	Large cell carcinoma	1	1	CYP2A6 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Arthrogryposis-renal dysfunction-cholestasis syndrome	Crst syndrome	1	0	FBN1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	28
14q11.2 microduplication syndrome	Intellectual developmental disorder autism dysmorphic	1	1	CHD8 (5)	0.20000	0.50000	3.896e-4	8.521e-4	280
17p11.2 microduplication syndrome	Smith-magenis syndrome	1	1	RAI1 (7)	0.20000	0.50000	3.896e-4	8.521e-4	285
17q12 microdeletion syndrome	Renal cysts and diabetes syndrome	1	1	HNF1B (7)	0.20000	0.50000	3.896e-4	8.521e-4	145
1p36.33 duplication syndrome	Ocular anomalies with axonal neuropathy and developmental delay	1	1	ATAD3A (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Acne inversa	Early onset alzheimers disease with behavioral disturbance	1	1	PSEN1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	151
Acrocallosal syndrome	White sutton syndrome	1	0	GLI3 (1)	0.20000	0.50000	3.896e-4	8.521e-4	192
Adrenoleukodystrophy	Encephalitis	1	1	ABCD1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	
Alpha-1 antichymotrypsin deficiency	Rh deficiency syndrome	1	1	RHD (3)	0.20000	0.50000	3.896e-4	8.521e-4	306
Anastomosing haemangioma	Cutis marmorata telangiectatica congenita	1	1	GNA11 (2)	0.20000	0.50000	3.896e-4	8.521e-4	65
Anastomosing haemangioma	Port-wine stain	1	1	GNAQ (3)	0.20000	0.50000	3.896e-4	8.521e-4	65
Activated pi3k-delta syndrome	Anisometropia	1	1	PTEN (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Anisometropia	Retinal vasculopathy with cerebral leukodystrophy	1	1	PTEN (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Antithrombin deficiency	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	1	1	IL1B (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Antithrombin deficiency	Diffuse panbronchiolitis	1	1	MUC5B (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Aplasia cutis congenita with epibulbar dermoids	Arteriovenous malformations	1	1	KRAS (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Aplasia cutis congenita with epibulbar dermoids	Encephalocraniocutaneous lipomatosis	1	1	KRAS (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Aplasia cutis congenita with epibulbar dermoids	Toriello-carey syndrome	1	1	KRAS (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Apnea	Paresis	1	1	BCHE (2)	0.20000	0.50000	3.896e-4	8.521e-4	397
Apolipoprotein a-i deficiency	Ataxia with vitamin e deficiency	1	1	APOA1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	293
Arachnoid cysts	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	1	0	GPHN (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Arthrogryposis-renal dysfunction-cholestasis syndrome	Congenital scoliosis	1	0	FBN1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	28
Asthenozoospermia	Cholesterol embolism	1	1	PLAU (2)	0.20000	0.50000	3.896e-4	8.521e-4	29
Asthenozoospermia	Intracranial embolism and thrombosis	1	1	PLAU (2)	0.20000	0.50000	3.896e-4	8.521e-4	29
Asthenozoospermia	Isolated systolic hypertension	1	1	BSCL2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Atrial standstill	Hypercapnia	1	1	NPPA (4)	0.20000	0.50000	3.896e-4	8.521e-4	140
Atrial standstill	Cardiac rhythm disease	1	1	SCN5A (3)	0.20000	0.50000	3.896e-4	8.521e-4	140
Atrial standstill	Ectopic rhythm	1	1	SCN5A (2)	0.20000	0.50000	3.896e-4	8.521e-4	140
Autoimmune pancreatitis	Benign mucous membrane pemphigoid with ocular involvement	1	0	HLA-DQB1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	1
Autoimmune pancreatitis	Bouillaud’s disease	1	0	HLA-DQB1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	1
Acute disseminated encephalomyelitis	Autoimmune pancreatitis	1	0	HLA-DQB1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	1
autosomal recessive polycystic kidney disease	Polycystic kidney disease with tuberous sclerosis	1	1	PKD1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Becker generalized myotonia	Hyperkalemic periodic paralysis	1	0	CLCN1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Capillary malformation	Cutis marmorata telangiectatica congenita	1	1	GNA11 (2)	0.20000	0.50000	3.896e-4	8.521e-4	65
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Cutis marmorata telangiectatica congenita	1	1	GNA11 (2)	0.20000	0.50000	3.896e-4	8.521e-4	65
Cutis marmorata telangiectatica congenita	Hypocalciuric hypercalcemia	1	1	GNA11 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Cystathionine beta-synthase deficiency	Ventricular hypertrophy	1	0	PKHD1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	74
Deafness, aminoglycoside-induced	Infantile liver failure	1	1	TRMU (4)	0.20000	0.50000	3.896e-4	8.521e-4	
Deafness, dystonia, and cerebral hypomyelination	Encephalitis	1	0	ABCD1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Chilblain lupus	Deoxyguanosine kinase deficiency	1	1	SAMHD1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	159
Dermatosparaxis ehlers-danlos syndrome	Geleophysic dysplasia	1	1	ADAMTSL2 (5)	0.20000	0.50000	3.896e-4	8.521e-4	28
Blue cone monochromatism	Deuteranomaly	1	1	OPN1MW (6)	0.20000	0.50000	3.896e-4	8.521e-4	217
Developmental delay with language impairment and movement disorder	Intellectual developmental disorder speech autism dysmorphic	1	1	TBR1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	220
Diffuse mesangial sclerosis	Digenic alport syndrome	1	1	COL4A4 (2)	0.20000	0.50000	3.896e-4	8.521e-4	91
Donnai-barrow syndrome	Vitamin d deficiency	1	1	LRP2 (5)	0.20000	0.50000	3.896e-4	8.521e-4	
Duane-radial ray syndrome	Vissers-bodmer syndrome	1	1	IPO8 (4)	0.20000	0.50000	3.896e-4	8.521e-4	95
Biliary tract neoplasms	Cardiofacial dysplasia	1	1	PRKACB (5)	0.20000	0.50000	3.896e-4	8.521e-4	38
Cartilage-hair hypoplasia	Metaphyseal dysplasia	1	0	CCDC107 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Cataract-multisystem syndrome	X-linked dyskeratosis congenita	1	1	DKC1 (3)	0.20000	0.50000	3.896e-4	8.521e-4	393
Catel-manzke syndrome	Congenital vertebral-cardiac-renal anomalies syndrome	1	1	KYNU (3)	0.20000	0.50000	3.896e-4	8.521e-4	421
Caudal regression syndrome	Congenital exomphalos	1	0	PCSK5 (1)	0.20000	0.50000	3.896e-4	8.521e-4	109
Caudal regression syndrome	Currarino syndrome	1	1	PCSK5 (2)	0.20000	0.50000	3.896e-4	8.521e-4	109
Cebalid syndrome	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	1	1	MTOR (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar ataxia, mental retardation, and dysequilibrium	1	1	WDR81 (3)	0.20000	0.50000	3.896e-4	8.521e-4	260
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	1	1	ATP8A2 (3)	0.20000	0.50000	3.896e-4	8.521e-4	260
Cerebellar ataxia, mental retardation, and dysequilibrium	Congenital communicating hydrocephalus	1	1	WDR81 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Cerebellar ataxia, mental retardation, and dysequilibrium	Microlissencephaly	1	1	WDR81 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Cerebral folate deficiency	Dias-logan syndrome	1	1	CIC (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Cerebrofacioarticular syndrome	Hennekam syndrome	1	1	FAT4 (5)	0.20000	0.50000	3.896e-4	8.521e-4	
Cholesterol ester transfer protein deficiency	Follicular cyst	1	1	SCARB1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Chromosome 17 deletion	Chromosome 17q21.31 deletion syndrome	1	1	KANSL1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Atrial standstill	Chromosome 1q21.1 deletion syndrome	1	1	GJA5 (4)	0.20000	0.50000	3.896e-4	8.521e-4	
Horizontal gaze palsy with progressive scoliosis	Partial agenesis of corpus callosum	1	0	DCC (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Acrocallosal syndrome	Hydrolethalus syndrome	1	1	KIF7 (6)	0.20000	0.50000	3.896e-4	8.521e-4	192
Hyperkalemia	Malignant hypertension	1	1	CYP17A1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Intellectual developmental disorder autism speech	Intellectual developmental disorder speech autism dysmorphic	1	1	TBR1 (3)	0.20000	0.50000	3.896e-4	8.521e-4	220
Pilosebaceous disorder	White sutton syndrome	1	1	GLI3 (2)	0.20000	0.50000	3.896e-4	8.521e-4	192
Pituitary gigantism	Vipoma	1	1	MEN1 (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Hyper-immunoglobulin e syndrome	platelet-type bleeding disorder 16	1	1	ITGB3 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Cervical dysplasia	Portal vein thrombosis	1	0	MTHFR (1)	0.20000	0.50000	3.896e-4	8.521e-4	60
Potocki-lupski syndrome	Smith-magenis syndrome	1	1	RAI1 (8)	0.20000	0.50000	3.896e-4	8.521e-4	285
Renal cysts and diabetes syndrome	Renal hypoplasia	1	0	PAX2 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Renovascular hypertension	Resistant hypertension	1	1	NOS3 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Rh deficiency syndrome	Rh isoimmunization	1	1	RHD (3)	0.20000	0.50000	3.896e-4	8.521e-4	306
Rhabdoid tumor	Schwannomatosis	1	1	SMARCB1 (3)	0.20000	0.50000	3.896e-4	8.521e-4	299
Congenital hemangioma	Schwartz-jampel syndrome	1	1	GNA11 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Cutis marmorata telangiectatica congenita	Schwartz-jampel syndrome	1	1	GNA11 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Sitosterolemia	Xanthomatosis	1	1	ABCG5 (7)	0.20000	0.50000	3.896e-4	8.521e-4	
Aphasia	Spinal cord compression	1	1	PLAT (2)	0.20000	0.50000	3.896e-4	8.521e-4	29
Postictal aphasia	Spinal cord compression	1	0	PLAT (1)	0.20000	0.50000	3.896e-4	8.521e-4	29
Cholesterol embolism	Spinal cord compression	1	0	PLAT (1)	0.20000	0.50000	3.896e-4	8.521e-4	29
Sweat gland disease	Vipoma	1	1	SST (2)	0.20000	0.50000	3.896e-4	8.521e-4	340
Hemimelia of limb	Synpolydactyly	1	1	HOXD13 (5)	0.20000	0.50000	3.896e-4	8.521e-4	111
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Thiel-behnke corneal dystrophy	1	1	TBCD (5)	0.20000	0.50000	3.896e-4	8.521e-4	
Benign mucous membrane pemphigoid with ocular involvement	Thromboangiitis obliterans	1	0	HLA-DRB1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Hyperthyroxinemia	Thyroid hormone metabolism disorder	1	1	DIO1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	185
Benign mucous membrane pemphigoid with ocular involvement	Tongue cancer	1	1	HLA-DQB1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	1
Malignant hypertension	Tonne-kalscheuer syndrome	1	1	REN (2)	0.20000	0.50000	3.896e-4	8.521e-4	70
Autoimmune pancreatitis	Tonsil cancer	1	1	HLA-DQB1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	1
Tongue cancer	Tonsil cancer	1	0	HLA-DQB1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	1
Intracranial arteriovenous malformation	Toriello-carey syndrome	1	1	KRAS (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Cardiac rhythm disease	Torsades de pointes	1	1	SCN5A (4)	0.20000	0.50000	3.896e-4	8.521e-4	140
Digenic alport syndrome	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome	1	1	COL4A3 (2)	0.20000	0.50000	3.896e-4	8.521e-4	91
Hyperoxia	Intermittent hydrarthrosis	1	1	TNFRSF1A (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Intestinal perforation	Renovascular hypertension	1	1	NOS3 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Arteriovenous malformations	Intracranial arteriovenous malformation	1	1	KRAS (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Ataxia with vitamin e deficiency	Isolated systolic hypertension	1	1	APOB (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Hypobetalipoproteinemia	Isolated systolic hypertension	1	1	APOB (4)	0.20000	0.50000	3.896e-4	8.521e-4	201
Intracranial arteriovenous malformation	juvenile polyposis syndrome	1	1	ENG (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Activated pi3k-delta syndrome	Lipomatosis	1	1	PTEN (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Lipomatosis	Retinal vasculopathy with cerebral leukodystrophy	1	1	PTEN (2)	0.20000	0.50000	3.896e-4	8.521e-4	
lissencephaly spectrum disorders	Lissencephaly, x-linked	1	1	DCX (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Arachnoid cysts	Lissencephaly, x-linked	1	1	ARX (3)	0.20000	0.50000	3.896e-4	8.521e-4	255
Acrocallosal syndrome	Male infertility testicular dysgenesis	1	1	KIF7 (2)	0.20000	0.50000	3.896e-4	8.521e-4	192
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Malignant peripheral nerve sheath tumor	1	1	HTRA1 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Combined deficiency of factor v and factor viii	Gastrointestinal defects and immunodeficiency syndrome	1	1	MCFD2 (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Crst syndrome	Geleophysic dysplasia	1	1	FBN1 (5)	0.20000	0.50000	3.896e-4	8.521e-4	28
Glanzmann thrombasthenia	Hyper-immunoglobulin e syndrome	1	1	ITGB3 (8)	0.20000	0.50000	3.896e-4	8.521e-4	
Corneal opacity	Gm1 gangliosidosis	1	1	GLB1 (7)	0.20000	0.50000	3.896e-4	8.521e-4	
Craniometaphyseal dysplasia	Hallermanns syndrome	1	1	GJA1 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Haploinsufficiency	Mycosis fungoides	1	1	CTLA4 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Haploinsufficiency	Torsades de pointes	1	1	KCNH2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Aphasia	Hematoma	1	1	PLAT (2)	0.20000	0.50000	3.896e-4	8.521e-4	29
Hemiparkinsonism	Parkinsonian-pyramidal syndrome	1	1	SNCA (3)	0.20000	0.50000	3.896e-4	8.521e-4	395
Hemiparkinsonism	Thyroid hemiagenesis	1	0	VPS13C (1)	0.20000	0.50000	3.896e-4	8.521e-4	395
Hemolytic disease of fetus and newborn	Rh deficiency syndrome	1	1	RHD (4)	0.20000	0.50000	3.896e-4	8.521e-4	306
Hemorrhagic stroke	Hepatic fibrosis	1	1	PDGFA (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Hennekam syndrome	Van maldergem syndrome	1	1	FAT4 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Cryohydrocytosis	Hereditary xerocytosis	1	1	SLC4A1 (5)	0.20000	0.50000	3.896e-4	8.521e-4	
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	Neuropathic spinal arthropathy	1	0	KAT6B (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Congenital palmoplantar and perioral keratoderma of olmsted	Olmsted syndrome, x-linked	1	1	MBTPS2 (5)	0.20000	0.50000	3.896e-4	8.521e-4	346
Desmoid tumor	Osteopathia striata with cranial sclerosis	1	1	CTNNB1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
11p11.2 deletion syndrome	Parietal foramina	1	1	ALX4 (6)	0.20000	0.50000	3.896e-4	8.521e-4	108
Parietal foramina	Potocki-shaffer syndrome	1	1	ALX4 (7)	0.20000	0.50000	3.896e-4	8.521e-4	108
Arteriovenous malformations	Parkes weber syndrome	1	1	RASA1 (5)	0.20000	0.50000	3.896e-4	8.521e-4	65
Common arterial trunk with aortic dominance	Partial pancreatic agenesis	1	1	GATA6 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Dysphonia	Mitochondrial hepatopathy	1	0	TWNK (1)	0.20000	0.50000	3.896e-4	8.521e-4	181
Amyloid neuropathy	Early onset alzheimers disease with behavioral disturbance	1	1	PSEN1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	151
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Lipoyltransferase deficiency	1	1	LIPT2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Congenital scoliosis	Ectopia lentis	1	1	FBN1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	28
Crst syndrome	Ectopia lentis	1	1	FBN1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	28
Dilatation of pulmonary artery	Ectopia lentis	1	1	FBN1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	28
Annular epidermolytic ichthyosis	Epidermolytic palmoplantar keratoderma	1	1	KRT1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	187
Epidermolytic ichthyosis	Epidermolytic palmoplantar keratoderma	1	1	KRT1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	187
Congenital reticular ichthyosiform erythroderma	Epidermolytic palmoplantar keratoderma	1	1	KRT1 (3)	0.20000	0.50000	3.896e-4	8.521e-4	187
Familial mediterranean fever	Orthostatic hypotension	1	1	ABCB1 (2)	0.20000	0.50000	3.896e-4	8.521e-4	120
Follicular cyst	Hyperalphalipoproteinemia	1	1	SCARB1 (3)	0.20000	0.50000	3.896e-4	8.521e-4	
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Malignant triton tumor	1	1	HTRA1 (6)	0.20000	0.50000	3.896e-4	8.521e-4	
Microscopic colitis	Selective immunoglobulin a deficiency	1	1	CLEC16A (2)	0.20000	0.50000	3.896e-4	8.521e-4	369
Myoclonic epilepsy with ragged red fibers	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	1	1	IL1B (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Vaginal neoplasms	Vipoma	1	0	IFNA1 (1)	0.20000	0.50000	3.896e-4	8.521e-4	
Factor v deficiency	Venous hypertension	1	1	F5 (5)	0.20000	0.50000	3.896e-4	8.521e-4	84
Ameloblastoma	Ventricular hypertrophy	1	1	BRAF (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Anaplastic astrocytoma	Ventricular hypertrophy	1	1	BRAF (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Brachyolmia	Verloes-bourguignon syndrome	1	1	LTBP3 (5)	0.20000	0.50000	3.896e-4	8.521e-4	
Geleophysic dysplasia	Verloes-bourguignon syndrome	1	1	LTBP3 (6)	0.20000	0.50000	3.896e-4	8.521e-4	28
Keratitis-ichthyosis-deafness syndrome	Vohwinkel syndrome	1	1	GJB2 (3)	0.20000	0.50000	3.896e-4	8.521e-4	68
Hemophilia b	Warfarin sensitivity	1	1	F9 (8)	0.20000	0.50000	3.896e-4	8.521e-4	
12q14 microdeletion syndrome	Well-differentiated liposarcoma	1	1	HMGA2 (2)	0.20000	0.50000	3.896e-4	8.521e-4	
Digenic alport syndrome	X-linked diffuse leiomyomatosis with alport syndrome	1	1	COL4A5 (2)	0.20000	0.50000	3.896e-4	8.521e-4	91
Cryohydrocytosis	Xerocytosis	1	1	SLC4A1 (4)	0.20000	0.50000	3.896e-4	8.521e-4	
Deafness with congenital onychodystrophy	Zimmermann-laband syndrome	1	1	ATP6V1B2 (4)	0.20000	0.50000	3.896e-4	8.521e-4	105
Doors syndrome	Zimmermann-laband syndrome	1	1	ATP6V1B2 (3)	0.20000	0.50000	3.896e-4	8.521e-4	105
Tumor predisposition syndrome	tumor predisposition syndrome 3	1	1	POT1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Tumor predisposition syndrome	tumor predisposition syndrome 2	1	1	MBD4 (4)	0.14286	1.00000	3.897e-4	8.521e-4	368
fanconi anemia complementation group d1	Tumor predisposition syndrome	1	1	BRCA2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Palmoplantar keratoderma with congenital alopecia	Vascular remodeling	1	1	GJA1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Branchial arch abnormalities syndrome	Vein of galen aneurysm	1	1	KMT2D (3)	0.14286	1.00000	3.897e-4	8.521e-4	95
Branchial cleft anomalies	Vein of galen aneurysm	1	0	KMT2D (1)	0.14286	1.00000	3.897e-4	8.521e-4	95
kabuki syndrome 1	Vein of galen aneurysm	1	1	KMT2D (2)	0.14286	1.00000	3.897e-4	8.521e-4	95
Exanthema	von Willebrand disease type 2B	1	1	VWF (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Wolfram syndrome	Wolfram-like syndrome	1	1	WFS1 (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital thyroid atrophy	X-linked central congenital hypothyroidism with late-onset testicular enlargement	1	1	IGSF1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	102
Congenital hypothyroidism without goiter	X-linked central congenital hypothyroidism with late-onset testicular enlargement	1	1	IGSF1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	102
46,xx ovotesticular disorder of sex development	X-linked congenital generalized hypertrichosis	1	1	SOX3 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Hemolysis	X-linked distal spinal muscular atrophy type 3	1	1	ATP7A (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebral cavernous malformation	X-linked dominant hypophosphatemic rickets	1	1	PHEX (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebral cavernous malformation	X-linked hypophosphatemia	1	1	PHEX (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cyclin-dependent kinase-like 5 deficiency	X-linked retinoschisis	1	1	RS1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebrooculofacioskeletal syndrome	xeroderma pigmentosum group D	1	1	ERCC2 (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Cockayne syndrome	xeroderma pigmentosum group F	1	1	ERCC4 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebrooculofacioskeletal syndrome	xeroderma pigmentosum group G	1	1	ERCC5 (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Arginine vasopressin deficiency	Gastrointestinal hemorrhage	1	1	AVP (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Gastrointestinal hemorrhage	Hereditary arginine vasopressin deficiency	1	1	AVP (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Brain tumor-polyposis syndrome	Gastrointestinal hemorrhage	1	1	APC (2)	0.14286	1.00000	3.897e-4	8.521e-4	37
Familial adenomatous polyposis	Gastrointestinal hemorrhage	1	1	APC (3)	0.14286	1.00000	3.897e-4	8.521e-4	37
gastric adenocarcinoma and proximal polyposis of the stomach	Gastrointestinal hemorrhage	1	1	APC (2)	0.14286	1.00000	3.897e-4	8.521e-4	37
Gata2 deficiency	Vascular remodeling	1	1	GATA2 (4)	0.14286	1.00000	3.897e-4	8.521e-4	126
GATA2 deficiency with susceptibility to MDS/AML	Vascular remodeling	1	1	GATA2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	126
Genetic renal tubular disease	Gitelman syndrome	1	1	SLC12A3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Gitelman syndrome	mucopolysaccharidosis type 1	1	1	IDUA (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Gitelman syndrome	obsolete antenatal Bartter syndrome	1	1	SLC12A1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	410
Gitelman syndrome	neonatal severe primary hyperparathyroidism	1	1	CASR (2)	0.14286	1.00000	3.897e-4	8.521e-4	
familial hypocalciuric hypercalcemia 1	Gitelman syndrome	1	1	CASR (2)	0.14286	1.00000	3.897e-4	8.521e-4	
glaucoma 3, primary congenital, d	Hydrophthalmos	1	1	LTBP2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retrognathism	greenberg dysplasia	1	1	LBR (2)	0.14286	1.00000	3.897e-4	8.521e-4	281
GRHL3-related orofacial clefting	Van der woude syndrome	1	1	GRHL3 (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Growth retardation, mild developmental delay, chronic hepatitis syndrome	Thrombocythemia	1	1	SH2B3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Growth retardation, mild developmental delay, chronic hepatitis syndrome	Thrombocytosis	1	1	SH2B3 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
heme oxygenase 1 deficiency	Hemolysis	1	1	HMOX1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	194
heme oxygenase 1 deficiency	Pancreatic diseases	1	1	HMOX1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	194
Heme oxygenase deficiency	Hemolysis	1	1	HMOX1 (7)	0.14286	1.00000	3.897e-4	8.521e-4	194
Heme oxygenase deficiency	Pancreatic diseases	1	1	HMOX1 (7)	0.14286	1.00000	3.897e-4	8.521e-4	194
hemochromatosis type 4	Hemolysis	1	1	SLC40A1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Hemolysis	X-linked distal spinal muscular atrophy	1	1	ATP7A (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Cold autoinflammatory syndrome	hereditary angioedema type 3	1	1	F12 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Hereditary diffuse gastric and lobular breast cancer syndrome	Lobular carcinoma	1	1	CDH1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	165
Hereditary neuropathy with liability to pressure palsies	Hereditary sensory and motor neuropathy	1	1	PMP22 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Exanthema	hereditary von Willebrand disease	1	1	VWF (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Schwartz-Jampel syndrome type 1	Stuve-wiedemann syndrome	1	1	HSPG2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	146
Benign infantile epilepsy	self-limited familial neonatal epilepsy	1	1	KCNQ3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	213
SH2B3-related immune system disorder	Thrombocythemia	1	1	SH2B3 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
SH2B3-related immune system disorder	Thrombocytosis	1	1	SH2B3 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Silverman-Handmaker type dyssegmental dysplasia	Stuve-wiedemann syndrome	1	1	HSPG2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	146
Intestinal polyps	Sleep deprivation	1	0	PTGS1 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
46,xx ovotesticular disorder of sex development	SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	1	1	SOX3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
spermatogenic failure 18	Tumor predisposition syndrome	1	1	DNAH1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Breast implant-associated anaplastic large cell lymphoma	STAT3-related early-onset multisystem autoimmune disease	1	1	STAT3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	167
Pulmonary surfactant metabolism dysfunction	surfactant metabolism dysfunction, pulmonary, 4	1	1	CSF2RA (6)	0.14286	1.00000	3.897e-4	8.521e-4	425
Exanthema	systemic lupus erythematosus related to C1QA	1	1	C1QA (2)	0.14286	1.00000	3.897e-4	8.521e-4	
telangiectasia, hereditary hemorrhagic, type 2	Vascular remodeling	1	1	ACVRL1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	126
Tessadori-van haaften neurodevelopmental syndrome	Tessadori-Van Haaften neurodevelopmental syndrome 3	1	1	H4C5 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
thrombocythemia 1	Thrombocytosis	1	1	THPO (5)	0.14286	1.00000	3.897e-4	8.521e-4	98
Thrombocythemia	thrombocythemia 1	1	1	THPO (4)	0.14286	1.00000	3.897e-4	8.521e-4	98
thrombocythemia 2	Thrombocytosis	1	1	MPL (5)	0.14286	1.00000	3.897e-4	8.521e-4	98
Thrombocythemia	thrombocythemia 2	1	1	MPL (5)	0.14286	1.00000	3.897e-4	8.521e-4	98
Thrombocythemia with distal limb defects	Thrombocytosis	1	1	THPO (4)	0.14286	1.00000	3.897e-4	8.521e-4	98
Thrombocythemia	Thrombocythemia with distal limb defects	1	1	THPO (5)	0.14286	1.00000	3.897e-4	8.521e-4	98
Aortic arch syndrome	Thrombophlebitis	1	0	HLA-B (1)	0.14286	1.00000	3.897e-4	8.521e-4	179
Cervical intraepithelial neoplasia	Thrombophlebitis	1	1	HLA-B (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Bockenheimer syndrome	Hydrophthalmos	1	0	TEK (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Hydrophthalmos	Mucocutaneous venous malformations	1	1	TEK (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Breast implant-associated anaplastic large cell lymphoma	hyper-IgE recurrent infection syndrome 1, autosomal dominant	1	1	STAT3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	167
Breast implant-associated anaplastic large cell lymphoma	Hyper-ige syndrome	1	0	STAT3 (1)	0.14286	1.00000	3.897e-4	8.521e-4	167
Hypereosinophilic syndrome	Myeloproliferative disease, unclassifiable	1	1	PDGFRB (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Hypereosinophilic syndrome	thrombocytopenia 5	1	1	ETV6 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Hypereosinophilic syndrome	Osteoglophonic dwarfism	1	1	FGFR1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	139
Hypereosinophilic syndrome	Osteoglophonic dysplasia	1	1	FGFR1 (6)	0.14286	1.00000	3.897e-4	8.521e-4	139
Congenital hyperinsulinism	hyperinsulinemic hypoglycemia, familial, 1	1	1	ABCC8 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hyperinsulinism	hyperinsulinemic hypoglycemia, familial, 2	1	1	KCNJ11 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hyperinsulinism	hyperinsulinism due to glucokinase deficiency	1	1	GCK (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hyperinsulinism	Hyperinsulinism-hyperammonemia syndrome	1	1	GLUD1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	35
Eye pain	Hypocalcemia	1	1	POMC (2)	0.14286	1.00000	3.897e-4	8.521e-4	101
Hypocalcemia	Rhabdomyoma	1	1	POMC (2)	0.14286	1.00000	3.897e-4	8.521e-4	101
Gitelman syndrome	Hypokalemia-hypomagnesemia	1	1	SLC12A3 (6)	0.14286	1.00000	3.897e-4	8.521e-4	
hypomyelinating leukodystrophy 2	Pelizaeus-merzbacher disease	1	1	GJC2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	434
hypomyelinating leukodystrophy 3	Pelizaeus-merzbacher disease	1	1	AIMP1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	434
hypoplasminogenemia	Laryngeal disease	1	1	PLG (2)	0.14286	1.00000	3.897e-4	8.521e-4	246
Idiopathic diabetes	Ventricular outflow obstruction	1	1	INS (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Idiopathic diabetes	Interleukin 2 receptor deficiency	1	1	IL2RA (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Idiopathic diabetes	immunodeficiency due to CD25 deficiency	1	1	IL2RA (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Axenfeld-rieger syndrome	IFT140-related recessive ciliopathy	1	1	IFT140 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Carotid artery thrombosis	inherited prekallikrein deficiency	1	1	KLKB1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Cadasil	inherited thrombocytopenia	1	1	NOTCH3 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Cold paroxysmal hemoglobinuria	Intellectual developmental disorder seizures dysmorphic skeletal	1	1	PIGT (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Hemoglobinuria paroxysmal	Intellectual developmental disorder seizures dysmorphic skeletal	1	1	PIGT (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Intellectual developmental disorder seizures dysmorphic skeletal	Paroxysmal nocturnal hemoglobinuria	1	1	PIGT (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Intestinal polyps	platelet-type bleeding disorder 12	1	1	PTGS1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cardiac valvular dysplasia	PLD1-related congenital heart disease	1	1	PLD1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	42
Popliteal pterygium syndrome	Van der woude syndrome	1	1	IRF6 (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital insensitivity to pain	Primary erythromelalgia	1	1	SCN9A (3)	0.14286	1.00000	3.897e-4	8.521e-4	171
Prolidase deficiency	Skin ulcer	1	1	PEPD (3)	0.14286	1.00000	3.897e-4	8.521e-4	142
Pulmonary surfactant metabolism dysfunction	surfactant metabolism dysfunction, pulmonary, 5	1	1	CSF2RB (6)	0.14286	1.00000	3.897e-4	8.521e-4	425
Pulmonary surfactant metabolism dysfunction	Respiratory distress with surfactant metabolism deficiency	1	1	SFTPC (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Pulmonary surfactant metabolism dysfunction	SFTPC-related interstitial lung disease	1	1	SFTPC (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Pulmonary surfactant metabolism dysfunction	surfactant metabolism dysfunction, pulmonary, 1	1	1	SFTPB (5)	0.14286	1.00000	3.897e-4	8.521e-4	425
RDH5-related retinopathy	Retinitis punctata albescens	1	1	RDH5 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retrognathism	regressive spondylometaphyseal dysplasia	1	1	LBR (2)	0.14286	1.00000	3.897e-4	8.521e-4	281
PRPH2-related retinopathy	Retinitis punctata albescens	1	1	PRPH2 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Retinoblastoma	Woolly hair	1	1	RB1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retrognathism	Reynolds syndrome	1	1	LBR (5)	0.14286	1.00000	3.897e-4	8.521e-4	281
Congenital retrognathism	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	1	1	LBR (2)	0.14286	1.00000	3.897e-4	8.521e-4	281
Retinitis punctata albescens	RHO-related retinopathy	1	1	RHO (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Rickets	vitamin D-dependent rickets, type 1A	1	1	CYP27B1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	342
Right bundle branch block	Right ventricular hypertrophy	1	0	BMPR2 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Right cardiac ventricular dilatation	Right ventricular hypertrophy	1	0	BMPR2 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Palmoplantar keratoderma with congenital alopecia	Right ventricular hypertrophy	1	1	GJA1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Retinitis punctata albescens	RLBP1-related retinopathy	1	1	RLBP1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	Visceral neuropathy	1	1	RRM2B (4)	0.14286	1.00000	3.897e-4	8.521e-4	
intellectual disability-sparse hair-brachydactyly syndrome	Vein of galen aneurysm	1	1	SMARCA2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
intellectual disability, autosomal recessive 61	Stuve-wiedemann syndrome	1	1	RUSC2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	146
interstitial lung disease due to ABCA3 deficiency	Pulmonary surfactant metabolism dysfunction	1	1	ABCA3 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Intestinal polyps	Urinary bladder neck obstruction	1	0	PTGS2 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Brain tumor-polyposis syndrome	Intestinal polyps	1	1	APC (2)	0.14286	1.00000	3.897e-4	8.521e-4	37
Familial adenomatous polyposis	Intestinal polyps	1	1	APC (3)	0.14286	1.00000	3.897e-4	8.521e-4	37
gastric adenocarcinoma and proximal polyposis of the stomach	Intestinal polyps	1	1	APC (2)	0.14286	1.00000	3.897e-4	8.521e-4	37
IRF6-related condition	Van der woude syndrome	1	1	IRF6 (8)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital cystic eyeball	isolated microphthalmia 6	1	1	PRSS56 (2)	0.14286	1.00000	3.897e-4	8.521e-4	52
Isolated somatotropin deficiency	Pituitary neoplasms	1	1	GH1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
joubert syndrome 1	Penile disease	1	1	INPP5E (2)	0.14286	1.00000	3.897e-4	8.521e-4	
joubert syndrome 17	Monomelic amyotrophy	1	1	CPLANE1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Laryngo-onycho-cutaneous syndrome	Skin ulcer	1	1	LAMA3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	142
Cafe-au-lait spots	legius syndrome	1	1	SPRED1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	71
Lobular carcinoma	Sebastian syndrome	1	1	MYH9 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Lobular carcinoma	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	1	1	MYH9 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Eyelid disease	lymphedema-distichiasis syndrome	1	1	FOXC2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Breast implant-associated anaplastic large cell lymphoma	Lymphoproliferative disorder of natural killer cells	1	0	STAT3 (1)	0.14286	1.00000	3.897e-4	8.521e-4	167
Cafe-au-lait spots	LZTR1-related schwannomatosis	1	1	LZTR1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital malformation syndromes associated with short stature	LZTR1-related schwannomatosis	1	1	LZTR1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Autosomal dominant sensorineural deafness	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	1	1	MYH9 (2)	0.14286	1.00000	3.897e-4	8.521e-4	407
Major salivary gland carcinoma	obsolete Carey-Fineman-Ziter syndrome	1	1	MYMK (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Embryonal nuclear cataract	malignant hyperthermia, susceptibility to, 5	1	1	CACNA1S (2)	0.14286	1.00000	3.897e-4	8.521e-4	
46,xx ovotesticular disorder of sex development	MCM9-related gametogenic failure	1	1	MCM9 (2)	0.14286	1.00000	3.897e-4	8.521e-4	183
Hemolysis	menkes disease	1	1	ATP7A (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Methemoglobinemia	methemoglobinemia due to deficiency of methemoglobin reductase	1	1	CYB5R3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Methemoglobinemia	methemoglobinemia type 4	1	1	CYB5A (6)	0.14286	1.00000	3.897e-4	8.521e-4	24
microcephaly with lissencephaly and/or hydranencephaly	Visceral neuropathy	1	1	NDE1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Microhydranencephaly	Visceral neuropathy	1	1	NDE1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Hydrophthalmos	Microspherophakia	1	1	LTBP2 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Aortic arch syndrome	Middle ear cholesteatoma	1	0	IL2 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
mitochondrial trifunctional protein deficiency	Rickets	1	1	HADHB (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Monomelic amyotrophy	Neuralgic amyotrophy	1	1	SEPTIN9 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
MORM syndrome	Penile disease	1	1	INPP5E (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Mucoepidermoid carcinoma	Tumor predisposition syndrome	1	1	BAP1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	368
Cold paroxysmal hemoglobinuria	multiple congenital anomalies-hypotonia-seizures syndrome 3	1	1	PIGT (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Hemoglobinuria paroxysmal	multiple congenital anomalies-hypotonia-seizures syndrome 3	1	1	PIGT (3)	0.14286	1.00000	3.897e-4	8.521e-4	
multiple congenital anomalies-hypotonia-seizures syndrome 3	Paroxysmal nocturnal hemoglobinuria	1	1	PIGT (4)	0.14286	1.00000	3.897e-4	8.521e-4	
multiple endocrine neoplasia type 4	Pituitary neoplasms	1	1	CDKN1B (2)	0.14286	1.00000	3.897e-4	8.521e-4	118
Clubfoot	nail-patella syndrome	1	1	LMX1B (2)	0.14286	1.00000	3.897e-4	8.521e-4	27
Benign infantile epilepsy	neonatal encephalopathy with non-epileptic myoclonus	1	1	KCNQ2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	213
Choreoathetosis	NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	1	1	NKX2-1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
46,xx ovotesticular disorder of sex development	NR5A1-related sex development disorder	1	1	NR5A1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	183
Adenomatous polyposis	NTHL1-deficiency tumor predisposition syndrome	1	1	NTHL1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	48
NTHL1-deficiency tumor predisposition syndrome	Tuberous sclerosis complex	1	1	NTHL1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	48
Congenital hyperinsulinism	obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	1	1	HADH (2)	0.14286	1.00000	3.897e-4	8.521e-4	
obsolete Stüve-Wiedemann syndrome	Stuve-wiedemann syndrome	1	1	LIFR (6)	0.14286	1.00000	3.897e-4	8.521e-4	146
Osteochondroma	Right ventricular hypertrophy	1	1	PTPN11 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cafe-au-lait spots	Osteoma cutis	1	1	GNAS (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Hypocalcemia	Osteoma cutis	1	0	GNAS (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Other epidermolysis bullosa	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (2)	0.14286	1.00000	3.897e-4	8.521e-4	229
Other specified diabetes mellitus with unspecified complications	Wolfram syndrome	1	1	WFS1 (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Bilateral multicystic dysplastic kidney	Ovarian mucinous adenocarcinoma	1	1	HNF1B (2)	0.14286	1.00000	3.897e-4	8.521e-4	145
Ovarian mucinous adenocarcinoma	Renal dysplasia	1	1	HNF1B (2)	0.14286	1.00000	3.897e-4	8.521e-4	145
Giant cell tumor of tendon sheath	Ovarian mucinous adenocarcinoma	1	1	HNF1B (2)	0.14286	1.00000	3.897e-4	8.521e-4	145
Multicystic dysplastic kidney	Ovarian mucinous adenocarcinoma	1	1	HNF1B (3)	0.14286	1.00000	3.897e-4	8.521e-4	145
Eye pain	Pancreatic diseases	1	0	POMC (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Pancreatic diseases	Rhabdomyoma	1	0	POMC (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Paralytic strabismus	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	1	1	PARN (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Diabetes microvascular complications	Paraneoplastic syndrome	1	1	EPO (2)	0.14286	1.00000	3.897e-4	8.521e-4	163
Pelizaeus-merzbacher disease	Pelizaeus-Merzbacher spectrum disorder	1	1	PLP1 (8)	0.14286	1.00000	3.897e-4	8.521e-4	434
Alpha thalassemia x-linked intellectual disability	Penile disease	1	1	ATRX (2)	0.14286	1.00000	3.897e-4	8.521e-4	117
Atr-x syndrome	Penile disease	1	1	ATRX (3)	0.14286	1.00000	3.897e-4	8.521e-4	117
Penile disease	X-linked alpha-thalassemia-intellectual disability syndrome	1	1	ATRX (2)	0.14286	1.00000	3.897e-4	8.521e-4	117
ATR-X-related syndrome	Penile disease	1	1	ATRX (2)	0.14286	1.00000	3.897e-4	8.521e-4	117
Peptic esophagitis	Rickets	1	1	VDR (2)	0.14286	1.00000	3.897e-4	8.521e-4	342
Embryonal nuclear cataract	Periodic paralysis with transient compartment-like syndrome	1	1	CACNA1S (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Ductus arteriosus, patent	TFAP2B-related congenital heart disease spectrum disorder	1	1	TFAP2B (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Collagen vi-related myopathy	dystonia 27	1	1	COL6A3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	307
Cardiac valvular dysplasia	ehlers-danlos syndrome, cardiac valvular type	1	1	COL1A2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Clubfoot	ehlers-danlos syndrome, musculocontractural type 1	1	1	CHST14 (2)	0.14286	1.00000	3.897e-4	8.521e-4	27
Eiken skeletal dysplasia	Rickets	1	1	PTH1R (6)	0.14286	1.00000	3.897e-4	8.521e-4	
17q11.2 microduplication syndrome	Embryonal nuclear cataract	1	0	NF1 (1)	0.14286	1.00000	3.897e-4	8.521e-4	71
Cervical lymphadenopathy	Embryonal nuclear cataract	1	1	NF1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	71
Embryonal nuclear cataract	Watson syndrome	1	1	NF1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	71
Embryonal nuclear cataract	neurofibromatosis type 1	1	1	NF1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	71
Adrenocortical carcinoma	Embryonal nuclear cataract	1	1	TP53 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
EPHB4-associated vascular malformation spectrum	Vein of galen aneurysm	1	1	EPHB4 (2)	0.14286	1.00000	3.897e-4	8.521e-4	95
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Other epidermolysis bullosa	1	1	PLEC (2)	0.14286	1.00000	3.897e-4	8.521e-4	229
Erythropoietic protoporphyria	X-linked erythropoietic protoporphyria	1	1	ALAS2 (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Erythropoietic protoporphyria	protoporphyria, erythropoietic, 1	1	1	FECH (8)	0.14286	1.00000	3.897e-4	8.521e-4	318
Diabetes microvascular complications	Esophageal stenosis	1	1	SOD2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	163
Exanthema	Hyper-igd syndrome	1	1	MVK (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Carbamazepine hypersensitivity	Exanthema	1	1	HLA-B (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Exanthema	Thrombophlebitis	1	1	HLA-B (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Exanthema	Sclerosis	1	0	IL1RN (1)	0.14286	1.00000	3.897e-4	8.521e-4	219
Eyelid disease	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	1	0	FOXC2 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
EYS-related retinopathy	Retinitis punctata albescens	1	1	EYS (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cold autoinflammatory syndrome	Factor xii deficiency	1	1	F12 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Adenomatous polyposis	familial adenomatous polyposis 2	1	1	MUTYH (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Adenomatous polyposis	familial adenomatous polyposis 4	1	1	MSH3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	48
familial hemiplegic migraine	Focal onset epileptic seizure	1	1	SCN1A (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Fanconi anemia complementation group A	Renal pelvis neoplasms	1	1	FANCA (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Breast implant-associated anaplastic large cell lymphoma	fanconi anemia, complementation group s	1	1	BRCA1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
fanconi renotubular syndrome 3	Fanconi syndrome	1	1	EHHADH (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Agat deficiency	Fanconi syndrome	1	1	GATM (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Arginine-glycine amidinotransferase deficiency	Fanconi syndrome	1	1	GATM (5)	0.14286	1.00000	3.897e-4	8.521e-4	
fanconi renotubular syndrome 1	Fanconi syndrome	1	1	GATM (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Focal onset epileptic seizure	intellectual disability, autosomal dominant 42	1	1	GNB1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	424
Adenomatous polyposis	Folic acid deficiency	1	1	DHFR (2)	0.14286	1.00000	3.897e-4	8.521e-4	48
Contracture of multiple joints	Fowler syndrome	1	1	FLVCR2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Axenfeld-rieger syndrome	FOXC1-related anterior segment dysgenesis	1	1	FOXC1 (7)	0.14286	1.00000	3.897e-4	8.521e-4	82
free sialic acid storage disease	Gitelman syndrome	1	1	SLC17A5 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cardiac valvular dysplasia	Congenital idiopathic intestinal pseudoobstruction	1	1	FLNA (5)	0.14286	1.00000	3.897e-4	8.521e-4	42
Cardiac valvular dysplasia	Otopalatodigital spectrum disorder	1	1	FLNA (5)	0.14286	1.00000	3.897e-4	8.521e-4	42
Cardiac valvular dysplasia	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.14286	1.00000	3.897e-4	8.521e-4	42
Cardiac valvular dysplasia	X-linked ehlers-danlos syndrome	1	1	FLNA (6)	0.14286	1.00000	3.897e-4	8.521e-4	42
Cardiac valvular dysplasia	X-linked keloid scarring syndrome	1	1	FLNA (6)	0.14286	1.00000	3.897e-4	8.521e-4	42
Carotid artery thrombosis	Thrombomodulin-related bleeding disorder	1	1	THBD (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Carotid artery thrombosis	familial hemophagocytic lymphohistiocytosis 5	1	1	STXBP2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Carotid atherosclerosis	Small cell ovary carcinoma	1	1	SMARCA4 (2)	0.14286	1.00000	3.897e-4	8.521e-4	261
Carotid atherosclerosis	rhabdoid tumor predisposition syndrome 2	1	1	SMARCA4 (2)	0.14286	1.00000	3.897e-4	8.521e-4	261
CDH1-related diffuse gastric and lobular breast cancer syndrome	Lobular carcinoma	1	1	CDH1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	165
CDH1-related diffuse gastric and lobular breast cancer syndrome	Cleft lip with or without cleft palate	1	1	CDH1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	165
CDKL5 disorder	Cyclin-dependent kinase-like 5 deficiency	1	1	CDKL5 (2)	0.14286	1.00000	3.897e-4	8.521e-4	55
CEP290-related ciliopathy	Stuve-wiedemann syndrome	1	1	CEP290 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebellar ataxia with hearing loss	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	1	0	SLC9A1 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia	Hereditary sensory and motor neuropathy	1	1	RFC1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	243
Cerebellar ataxia, intellectual disability, and dysequilibrium	Cerebellar hypoplasia	1	1	VLDLR (3)	0.14286	1.00000	3.897e-4	8.521e-4	260
Cerebellar ataxia, intellectual disability, and dysequilibrium	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	1	1	VLDLR (3)	0.14286	1.00000	3.897e-4	8.521e-4	260
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Dysequilibrium syndrome	1	1	VLDLR (4)	0.14286	1.00000	3.897e-4	8.521e-4	260
Cerebellar dysfunction with variable cognitive and behavioral abnormalities	lichtenstein-knorr syndrome	1	1	SLC9A1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebellar hypoplasia	Dysequilibrium syndrome	1	1	VLDLR (3)	0.14286	1.00000	3.897e-4	8.521e-4	260
Cadasil	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	1	1	NOTCH3 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Cadasil	cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	1	1	NOTCH3 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebral cavernous malformation	Rickets, x-linked hypophosphatemic	1	1	PHEX (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebral cavernous malformation	cerebral cavernous malformation 2	1	1	CCM2 (7)	0.14286	1.00000	3.897e-4	8.521e-4	249
Cerebrofaciothoracic dysplasia	Congenital musculoskeletal anomalies	1	1	TMCO1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cerebrovascular trauma	Paralytic strabismus	1	1	PHACTR1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cervical disc degenerative disorder	Refractory anemia	1	1	TNF (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cervical disc degenerative disorder	Peritoneal fibrosis	1	1	TGFB1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cervical disc degenerative disorder	inflammatory bowel disease, immunodeficiency, and encephalopathy	1	1	TGFB1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Caffey disease	Cervical disc degenerative disorder	1	1	COL1A1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Charcot-Marie-Tooth disease type 1A	Hereditary sensory and motor neuropathy	1	1	PMP22 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Charcot-Marie-Tooth disease type 4	Hereditary sensory and motor neuropathy	1	1	PRX (2)	0.14286	1.00000	3.897e-4	8.521e-4	243
CHEK2-related cancer predisposition	Tumor predisposition syndrome	1	1	CHEK2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Choreoathetosis	Testicular regression syndrome	1	0	DHX37 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Choreoathetosis	Cognitive impairment with or without cerebellar ataxia	1	1	SCN8A (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Choreoathetosis	Chromosome 17q23.1-q23.2 deletion syndrome	1	1	SLC2A1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	99
Choreoathetosis	Glucose transporter type 1 deficiency syndrome	1	1	SLC2A1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	99
Choreoathetosis	Epilepsy with myoclonic absence	1	1	SLC2A1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	99
Choroidal melanoma	Warburg-cinotti syndrome	1	1	DDR2 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Choroidal melanoma	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	1	1	DDR2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Choroidal neovascularization	Diabetes microvascular complications	1	1	VEGFA (2)	0.14286	1.00000	3.897e-4	8.521e-4	163
Chromophobe renal cell carcinoma	Idiopathic diabetes	1	1	HNF1A (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Chromosome 17p13.3 microdeletion syndrome	Clear cell sarcoma of kidney	1	1	YWHAE (2)	0.14286	1.00000	3.897e-4	8.521e-4	225
Chromosome 22q11.2 deletion syndrome	Pulmonary surfactant metabolism dysfunction	1	1	ABCA3 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Chronic pain	Congenital insensitivity to pain	1	1	SCN9A (3)	0.14286	1.00000	3.897e-4	8.521e-4	171
Cold autoinflammatory syndrome	Congenital factor xii deficiency	1	1	F12 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital finger flexion contractures	Digitotalar dysmorphism	1	1	TNNI2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	258
Congenital generalized lipodystrophy	Intellectual developmental disorder speech ambulation	1	1	ACTL6B (3)	0.14286	1.00000	3.897e-4	8.521e-4	79
Congenital generalized lipodystrophy	congenital generalized lipodystrophy type 3	1	1	CAV1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	79
Congenital glucokinase-related hyperinsulinism	Congenital hyperinsulinism	1	1	GCK (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hearing disorder	SF3B4-related acrofacial dysostosis	1	1	SF3B4 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hearing disorder	long qt syndrome 5	1	1	KCNE1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hernia of foramen of bochdalek	Eyelid disease	1	1	EFEMP1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	152
Congenital hypothyroidism without goiter	Interrupted aortic arch	1	0	NKX2-5 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital insensitivity to pain	hereditary sensory and autonomic neuropathy type 7	1	1	SCN11A (2)	0.14286	1.00000	3.897e-4	8.521e-4	171
Congenital limbs-face contractures-hypotonia-developmental delay syndrome	Digitotalar dysmorphism	1	1	NALCN (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital malformation syndromes associated with short stature	Hairy cell leukemia	1	1	BRAF (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital malformation syndromes associated with short stature	Osteochondroma	1	1	PTPN11 (2)	0.14286	1.00000	3.897e-4	8.521e-4	49
Congenital methemoglobinemia	Methemoglobinemia	1	1	CYB5R3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital muscular hypertrophy-cerebral syndrome	De lange syndrome	1	1	SMC1A (3)	0.14286	1.00000	3.897e-4	8.521e-4	301
Congenital musculoskeletal anomalies	Distichiasis-lymphedema syndrome	1	1	FOXC2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital musculoskeletal anomalies	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	1	0	FOXC2 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital musculoskeletal anomalies	lymphedema-distichiasis syndrome	1	1	FOXC2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Carotid artery thrombosis	Congenital prekallikrein deficiency	1	1	KLKB1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retinal aneurysm	Cyclin-dependent kinase-like 5 deficiency	1	0	RS1 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retinal anomaly	Cyclin-dependent kinase-like 5 deficiency	1	0	RS1 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retrognathism	kbg syndrome	1	1	ANKRD11 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retrognathism	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency	1	0	ABCC8 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retrognathism	Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency	1	1	ABCC8 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital retrognathism	hyperinsulinemic hypoglycemia, familial, 1	1	1	ABCC8 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital sclerocornea	Sutural cataract	1	1	GJA8 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital sensory neuropathy	Skin ulcer	1	1	NGF (3)	0.14286	1.00000	3.897e-4	8.521e-4	142
Congenital thyroid atrophy	Interrupted aortic arch	1	0	NKX2-5 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Bethlem myopathy	Congenital-onset steinert myotonic dystrophy	1	1	DMPK (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cardiac valvular dysplasia	Conjunctival telangiectasis	1	0	ATM (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Contracture of multiple joints	dystonia 27	1	1	COL6A3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Contracture of multiple joints	Schaaf-yang syndrome	1	1	MAGEL2 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Contracture of multiple joints	lethal congenital contracture syndrome 11	1	1	GLDN (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Contracture of multiple joints	Encephaloclastic proliferative vasculopathy	1	1	FLVCR2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Contractures, pterygia, and spondylocarpotarsal fusion syndrome	Digitotalar dysmorphism	1	1	MYH3 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Contractures, pterygia, and variable skeletal fusions syndrome	Digitotalar dysmorphism	1	1	MYH3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cryptogenic multifocal ulcerous stenosing enteritis	Curling ulcer	1	1	PLA2G4A (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Curling ulcer	Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	1	1	PLA2G4A (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Curling ulcer	Urinary bladder neck obstruction	1	1	PTGS2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	215
Cinca syndrome	Cold autoinflammatory syndrome	1	1	NLRP3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Clear cell sarcoma of kidney	dyskeratosis congenita, autosomal dominant 2	1	1	TERT (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Clear cell sarcoma of kidney	microphthalmia, syndromic 2	1	1	BCOR (2)	0.14286	1.00000	3.897e-4	8.521e-4	225
Cleft lip with or without cleft palate	Hereditary diffuse gastric and lobular breast cancer syndrome	1	1	CDH1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	165
17q23.1q23.2 microdeletion syndrome	Clubfoot	1	1	TBX4 (2)	0.14286	1.00000	3.897e-4	8.521e-4	27
Amelia	Clubfoot	1	1	TBX4 (4)	0.14286	1.00000	3.897e-4	8.521e-4	27
Chromosome 17q23.1-q23.2 duplication syndrome	Clubfoot	1	1	TBX4 (2)	0.14286	1.00000	3.897e-4	8.521e-4	27
Clubfoot	Coxopodopatellar syndrome	1	1	TBX4 (3)	0.14286	1.00000	3.897e-4	8.521e-4	27
Cerebrooculofacioskeletal syndrome	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	1	1	ERCC6 (6)	0.14286	1.00000	3.897e-4	8.521e-4	352
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	Cockayne syndrome	1	1	ERCC6 (7)	0.14286	1.00000	3.897e-4	8.521e-4	352
Cockayne syndrome	Cockayne syndrome type 1	1	1	ERCC8 (8)	0.14286	1.00000	3.897e-4	8.521e-4	352
Benign infantile epilepsy	Cognitive impairment with or without cerebellar ataxia	1	1	SCN8A (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Cognitive impairment with or without cerebellar ataxia	Focal onset epileptic seizure	1	1	SCN8A (5)	0.14286	1.00000	3.897e-4	8.521e-4	424
Cardiac valvular dysplasia	COL1A2-related Ehlers-Danlos syndrome	1	1	COL1A2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cardiac valvular dysplasia	COL1A2-related osteogenesis imperfecta	1	1	COL1A2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Colchicine resistance	Cryoglobulinemia	1	1	ABCB1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cold autoinflammatory syndrome	Infantile neurological cutaneous and articular syndrome	1	1	NLRP3 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Adenomatous polyposis	Colorectal adenomatous polyposis	1	1	MUTYH (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Cardiac valvular dysplasia	Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	1	1	MTHFD1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
congenital amegakaryocytic thrombocytopenia 1	Thrombocytosis	1	1	MPL (5)	0.14286	1.00000	3.897e-4	8.521e-4	98
congenital amegakaryocytic thrombocytopenia 1	Thrombocythemia	1	1	MPL (5)	0.14286	1.00000	3.897e-4	8.521e-4	98
Congenital bile acid synthesis defect	Oxysterol accumulation disorder	1	1	CYP7B1 (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital bile acid synthesis defect	CYP7B1-related disorder of oxysterol accumulation	1	1	CYP7B1 (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital bile acid synthesis defect	congenital bile acid synthesis defect 1	1	1	HSD3B7 (7)	0.14286	1.00000	3.897e-4	8.521e-4	387
Congenital bile acid synthesis defect	congenital bile acid synthesis defect 2	1	1	AKR1D1 (7)	0.14286	1.00000	3.897e-4	8.521e-4	387
Congenital bile acid synthesis defect	congenital bile acid synthesis defect 5	1	1	ABCD3 (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital bile acid synthesis defect	congenital bile acid synthesis defect 6	1	1	ACOX2 (5)	0.14286	1.00000	3.897e-4	8.521e-4	387
Congenital chromosomal disease	Tumor predisposition syndrome	1	1	POT1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Digitotalar dysmorphism	1	1	NALCN (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Benign infantile epilepsy	neonatal-onset developmental and epileptic encephalopathy	1	1	KCNQ2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	213
Benign paroxysmal torticollis of infancy	Cyclin-dependent kinase-like 5 deficiency	1	1	CACNA1A (2)	0.14286	1.00000	3.897e-4	8.521e-4	55
Berardinelli-seip congenital lipodystrophy	Carotid intima-media thickness	1	0	PPARG (1)	0.14286	1.00000	3.897e-4	8.521e-4	79
Berardinelli-seip congenital lipodystrophy	congenital generalized lipodystrophy type 3	1	1	CAV1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	79
Bethlem myopathy	dystonia 27	1	1	COL6A3 (7)	0.14286	1.00000	3.897e-4	8.521e-4	307
Bilateral cleft lip	Cleft lip with or without cleft palate	1	0	PLEKHA5 (1)	0.14286	1.00000	3.897e-4	8.521e-4	165
Bilateral vestibulopathy	Hereditary sensory and motor neuropathy	1	1	RFC1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	243
Bile duct disorder	PRKAG2-related cardiomyopathy	1	1	PRKAG2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	328
blepharocheilodontic syndrome 2	Cleft lip with or without cleft palate	1	1	CTNND1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	165
blepharocheilodontic syndrome 2	Trigeminal nerve disease	1	1	CTNND1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	165
Blomstrand lethal chondrodysplasia	Rickets	1	1	PTH1R (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Bothnia retinal dystrophy	Retinitis punctata albescens	1	1	RLBP1 (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Brachial plexus neuritis	Monomelic amyotrophy	1	1	SEPTIN9 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Brain-lung-thyroid syndrome	Choreoathetosis	1	1	NKX2-1 (6)	0.14286	1.00000	3.897e-4	8.521e-4	
BRCA1-related cancer predisposition	Breast implant-associated anaplastic large cell lymphoma	1	1	BRCA1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Adrenocortical carcinoma	Breast implant-associated anaplastic large cell lymphoma	1	1	TP53 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Breast implant-associated anaplastic large cell lymphoma	Choroid plexus carcinoma	1	1	TP53 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Breast implant-associated anaplastic large cell lymphoma	Choroid plexus papilloma	1	1	TP53 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
C1 esterase inhibitor deficiency	Hereditary c1 esterase inhibitor deficiency	1	1	SERPING1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
C1 esterase inhibitor deficiency	hereditary angioedema with C1Inh deficiency	1	1	SERPING1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
C1 esterase inhibitor deficiency	C9 deficiency	1	1	C9 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cadasil	Type i interferonopathy	1	1	TREX1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	159
Cadasil	TREX1-related type 1 interferonopathy	1	1	TREX1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	159
Café-au-lait macules	Cafe-au-lait spots	1	1	LZTR1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Café-au-lait macules	Congenital malformation syndromes associated with short stature	1	1	LZTR1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
17q11.2 microduplication syndrome	Cafe-au-lait spots	1	1	NF1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	71
Cafe-au-lait spots	Cervical lymphadenopathy	1	1	NF1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	71
Cafe-au-lait spots	Watson syndrome	1	1	NF1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	71
Aortic arch syndrome	Carbamazepine hypersensitivity	1	1	HLA-B (2)	0.14286	1.00000	3.897e-4	8.521e-4	179
Carbamazepine hypersensitivity	Cervical intraepithelial neoplasia	1	1	HLA-B (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Carcinoma in situ	Curling ulcer	1	1	PTGS2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	215
Carcinoma in situ	Intestinal polyps	1	0	PTGS2 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
CYP1B1-related glaucoma with or without anterior segment dysgenesis	Hydrophthalmos	1	1	CYP1B1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Cytochrome-b5 reductase deficiency	Methemoglobinemia	1	1	CYB5R3 (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Dacryocystitis	Exanthema	1	1	IL1RN (2)	0.14286	1.00000	3.897e-4	8.521e-4	219
Deafness-lymphedema-leukemia syndrome	Vascular remodeling	1	1	GATA2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	126
Diabetes microvascular complications	renal tubular dysgenesis - ACE	1	1	ACE (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	1	1	KCNJ11 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency	1	1	ABCC8 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Congenital hyperinsulinism	Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency	1	1	ABCC8 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Digitotalar dysmorphism	TPM2-related myopathy	1	1	TPM2 (3)	0.14286	1.00000	3.897e-4	8.521e-4	258
Distichiasis-lymphedema syndrome	Eyelid disease	1	1	FOXC2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
16q24.3 microdeletion syndrome	Congenital retrognathism	1	1	ANKRD11 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
17-beta-hydroxysteroid dehydrogenase deficiency	Disorders of sex development	1	1	HSD17B3 (4)	0.14286	1.00000	3.897e-4	8.521e-4	363
1p21.3 microdeletion syndrome	Anal polyp	1	1	DPYD (3)	0.14286	1.00000	3.897e-4	8.521e-4	365
3-hydroxyacyl-coa dehydrogenase deficiency	Congenital hyperinsulinism	1	1	HADH (4)	0.14286	1.00000	3.897e-4	8.521e-4	
46 XY differences of sex development	46,xx ovotesticular disorder of sex development	1	1	DMRT1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	183
Adams-oliver syndrome	adams-oliver syndrome 4	1	1	EOGT (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Adams-oliver syndrome	NOTCH1-related AOS spectrum disorder	1	1	NOTCH1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Adenomatous polyposis	Brain tumor-polyposis syndrome	1	1	APC (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Adenomatous polyposis	Familial adenomatous polyposis	1	1	APC (7)	0.14286	1.00000	3.897e-4	8.521e-4	
Adenomatous polyposis	gastric adenocarcinoma and proximal polyposis of the stomach	1	1	APC (6)	0.14286	1.00000	3.897e-4	8.521e-4	
Alpha-methylacyl-coa racemase deficiency	Congenital bile acid synthesis defect	1	1	AMACR (7)	0.14286	1.00000	3.897e-4	8.521e-4	387
Alpha-methylacyl-coa racemase deficiency	Hereditary sensory and motor neuropathy	1	1	AMACR (3)	0.14286	1.00000	3.897e-4	8.521e-4	
amyotrophic lateral sclerosis type 1	Hemolysis	1	1	SOD1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Anal polyp	Dihydropyrimidine dehydrogenase deficiency	1	1	DPYD (7)	0.14286	1.00000	3.897e-4	8.521e-4	365
Anterior compartment syndrome	Hemolysis	1	1	HMOX1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	194
Anterior compartment syndrome	Pancreatic diseases	1	1	HMOX1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	194
Aortic arch syndrome	Autoimmune pulmonary alveolar proteinosis	1	1	HLA-DRB1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Aortic arch syndrome	Heerfordt syndrome	1	0	HLA-DRB1 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Arboleda-tham syndrome	Vein of galen aneurysm	1	1	KAT6A (3)	0.14286	1.00000	3.897e-4	8.521e-4	
ARHGAP29-related non-syndromic orofacial cleft	Cleft lip with or without cleft palate	1	1	ARHGAP29 (2)	0.14286	1.00000	3.897e-4	8.521e-4	165
Ataxia with intention tremor and hypotonia	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	1	1	POU4F1 (3)	0.14286	1.00000	3.897e-4	8.521e-4	60
Ateleiotic dwarfism	Pituitary neoplasms	1	1	GH1 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
ATM-related cancer predisposition	Cardiac valvular dysplasia	1	1	ATM (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Atypical fanconi syndrome	Congenital hyperinsulinism	1	1	HNF4A (2)	0.14286	1.00000	3.897e-4	8.521e-4	
atypical hemolytic-uremic syndrome with C3 anomaly	Cold paroxysmal hemoglobinuria	1	1	C3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
atypical hemolytic-uremic syndrome with C3 anomaly	Hemoglobinuria paroxysmal	1	1	C3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
atypical hemolytic-uremic syndrome with C3 anomaly	Paroxysmal nocturnal hemoglobinuria	1	1	C3 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Autism, x-linked	Central apnea	1	1	MECP2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	55
Autism, x-linked	Neonatal encephalopathy	1	1	MECP2 (2)	0.14286	1.00000	3.897e-4	8.521e-4	55
Autism, x-linked	X-linked myopathy with excessive autophagy	1	1	RPL10 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Idiopathic diabetes	1	1	CTLA4 (2)	0.14286	1.00000	3.897e-4	8.521e-4	
Autoinflammation, antibody deficiency, and immune dysregulation	Cold autoinflammatory syndrome	1	1	PLCG2 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	Cold autoinflammatory syndrome	1	1	PLCG2 (5)	0.14286	1.00000	3.897e-4	8.521e-4	
Autoinflammation, immune dysregulation, and eosinophilia	Breast implant-associated anaplastic large cell lymphoma	1	1	JAK1 (5)	0.14286	1.00000	3.897e-4	8.521e-4	167
Autosomal dominant sensorineural deafness	Infantile neurological cutaneous and articular syndrome	1	1	NLRP3 (3)	0.14286	1.00000	3.897e-4	8.521e-4	
Autosomal dominant sensorineural deafness	Cinca syndrome	1	1	NLRP3 (4)	0.14286	1.00000	3.897e-4	8.521e-4	
Autosomal dominant sensorineural deafness	Hearing loss with hypertrophic cardiomyopathy	1	0	MYO6 (1)	0.14286	1.00000	3.897e-4	8.521e-4	407
Autosomal dominant sensorineural deafness	Peripheral neuropathy with sensorineural hearing impairment syndrome	1	0	GJB3 (1)	0.14286	1.00000	3.897e-4	8.521e-4	
Autosomal dominant sensorineural deafness	Sebastian syndrome	1	1	MYH9 (2)	0.14286	1.00000	3.897e-4	8.521e-4	407
autosomal recessive cutis laxa type 2D	Cyclin-dependent kinase-like 5 deficiency	1	1	ATP6V1A (2)	0.14286	1.00000	3.897e-4	8.521e-4	
BAP1-related tumor predisposition syndrome	Tumor predisposition syndrome	1	1	BAP1 (4)	0.14286	1.00000	3.897e-4	8.521e-4	368
Developmental disorder	Diverticulitis	2	0	TMC1 (1), ZFAND5 (1)	0.04651	0.12500	3.767e-4	8.521e-4	
Internet addiction disorder	Pheochromocytoma	2	2	COMT (2), MAOB (2)	0.04651	0.12500	3.767e-4	8.521e-4	
Esophageal disease	Rotator cuff tear	2	0	SASH1 (1), SLC39A8 (1)	0.04545	0.13333	3.793e-4	8.521e-4	
Lymphatic malformation	Primary microcephaly	2	2	MCPH1 (3), ANGPT2 (4)	0.04255	0.15385	3.854e-4	8.521e-4	
Hypospadias	Prostatic intraepithelial neoplasia	2	2	ESR2 (2), AR (4)	0.03846	0.18182	3.933e-4	8.600e-4	
Moyamoya angiopathy	Moyamoya disease	3	3	NF1 (2), RNF213 (6), BRCC3 (3)	0.03125	0.08333	4.037e-4	8.827e-4	71
Aortic valve disease	Major salivary gland carcinoma	2	0	MYMK (1), SLC2A6 (1)	0.02326	0.33333	4.044e-4	8.841e-4	
Malunion fracture	Smooth surface dental caries	2	0	PSD3 (1), SH2D4A (1)	0.04167	0.15385	4.079e-4	8.916e-4	
Cervical polyp	Nonalcoholic fatty liver disease	2	0	IRAK1BP1 (1), MEI4 (1)	0.00631	1.00000	4.199e-4	9.177e-4	
Bell's palsy	Essential tremor	4	0	CDC5L (1), SUPT3H (1), SFTA2 (1), TTC23 (1)	0.02667	0.07143	4.229e-4	9.242e-4	
Chondromalacia	Myositis	2	0	SLC6A15 (1), DLGAP1 (1)	0.02941	0.25000	4.257e-4	9.302e-4	
Hereditary parkinson disease	Substance-induced psychosis	2	2	GSTP1 (2), SNCA (3)	0.04545	0.11765	4.264e-4	9.317e-4	
Atypical femoral fracture	Vertebral column disorder	2	0	CSMD1 (1), CHST3 (1)	0.04082	0.15385	4.310e-4	9.416e-4	
Arima syndrome	CEP290-related ciliopathy	1	1	CEP290 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Arima syndrome	joubert syndrome 14	1	1	TMEM237 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
arrhythmogenic right ventricular dysplasia 5	Emery-dreifuss muscular dystrophy	1	1	TMEM43 (6)	0.12500	1.00000	4.546e-4	9.545e-4	83
arthrogryposis multiplex congenita 3, myogenic type	Emery-dreifuss muscular dystrophy	1	1	SYNE1 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Arthrogryposis with ectodermal dysplasia	Pendred syndrome	1	0	OTOF (1)	0.12500	1.00000	4.546e-4	9.545e-4	157
Arthrogryposis with perthes disease and gaze palsy	Congenital deformity of clavicle	1	1	NEK9 (4)	0.12500	1.00000	4.546e-4	9.545e-4	61
Arthrogryposis with perthes disease and gaze palsy	Congenital deformity of elbow	1	1	NEK9 (4)	0.12500	1.00000	4.546e-4	9.545e-4	61
Arthrogryposis with perthes disease and gaze palsy	Congenital deformity of forearm	1	1	NEK9 (4)	0.12500	1.00000	4.546e-4	9.545e-4	61
Arthrogryposis with perthes disease and gaze palsy	Congenital deformity of scapula	1	1	NEK9 (4)	0.12500	1.00000	4.546e-4	9.545e-4	61
Arthrogryposis with perthes disease and gaze palsy	Congenital deformity of wrist	1	1	NEK9 (4)	0.12500	1.00000	4.546e-4	9.545e-4	61
Astigmatism	kbg syndrome	1	1	ANKRD11 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Astigmatism	Christianon syndrome	1	1	SLC9A6 (5)	0.12500	1.00000	4.546e-4	9.545e-4	282
Astigmatism	Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment	1	1	SLC9A6 (3)	0.12500	1.00000	4.546e-4	9.545e-4	282
Ateleiotic dwarfism	Bonnevie-ullrich syndrome	1	1	GH1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
atransferrinemia	Hereditary hemochromatosis	1	1	TF (2)	0.12500	1.00000	4.546e-4	9.545e-4	
atransferrinemia	Iron overload	1	1	TF (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Atrial myxoma	Carney complex	1	1	PRKAR1A (8)	0.12500	1.00000	4.546e-4	9.545e-4	
Atrophia bulborum heritaria	Exudative retinopathy	1	1	NDP (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Atrophic retina	Mandibulofacial dysostosis	1	0	ABCA4 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Autism-epilepsy syndrome	Maple syrup urine disease	1	1	BCKDK (2)	0.12500	1.00000	4.546e-4	9.545e-4	
autosomal dominant centronuclear myopathy	Congenital deformity of clavicle	1	1	DNM2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
autosomal dominant centronuclear myopathy	Congenital deformity of elbow	1	1	DNM2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
autosomal dominant centronuclear myopathy	Congenital deformity of forearm	1	1	DNM2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
autosomal dominant centronuclear myopathy	Congenital deformity of scapula	1	1	DNM2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
autosomal dominant cerebellar ataxia, deafness and narcolepsy	Cerebral atrophy	1	1	DNMT1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	332
autosomal dominant epilepsy with auditory features	Familial temporal lobe epilepsy	1	1	LGI1 (6)	0.12500	1.00000	4.546e-4	9.545e-4	209
autosomal dominant polycystic kidney disease	Liver cyst	1	1	PKD1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
autosomal dominant polycystic kidney disease	IFT140-related recessive ciliopathy	1	0	IFT140 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
autosomal dominant polycystic kidney disease	renal-hepatic-pancreatic dysplasia 2	1	0	NEK8 (1)	0.12500	1.00000	4.546e-4	9.545e-4	74
autosomal recessive ataxia, Beauce type	Emery-dreifuss muscular dystrophy	1	1	SYNE1 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
autosomal recessive osteopetrosis 2	Osteolysis	1	1	TNFSF11 (2)	0.12500	1.00000	4.546e-4	9.545e-4	259
autosomal recessive spinocerebellar ataxia 10	Central nervous system non-hodgkin lymphoma	1	1	ANO10 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Axonal hereditary motor and sensory neuropathy	Hereditary motor and sensory neuropathy	1	1	MFN2 (5)	0.12500	1.00000	4.546e-4	9.545e-4	168
bamforth-lazarus syndrome	Nonmedullary thyroid cancer	1	1	FOXE1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	17
BAP1-related tumor predisposition syndrome	Testicular neoplasms	1	1	BAP1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	368
Beckwith-Wiedemann syndrome due to CDKN1C mutation	Russell-silver syndrome	1	1	CDKN1C (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Behavior disorders	Dysthymic disorder	1	0	SLC6A4 (1)	0.12500	1.00000	4.546e-4	9.545e-4	392
Congenital venous anomaly	cutis laxa, autosomal dominant 1	1	1	ELN (2)	0.12500	1.00000	4.546e-4	9.545e-4	
cutis laxa, autosomal dominant 1	Varicose veins	1	1	ELN (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Developmental delay with autism spectrum disorder	Skin hair eye pigmentation variation	1	1	HERC2 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Diabetes mellitus ketosis prone	Ventricular outflow obstruction	1	1	INS (2)	0.12500	1.00000	4.546e-4	9.545e-4	
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Diabetes mellitus ketosis prone	1	1	CTLA4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Pendred syndrome	1	1	DIAPH1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	157
dilated cardiomyopathy 1C	Distal muscular dystrophy	1	1	LDB3 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Disabling pansclerotic morphea of childhood	Uveomeningoencephalitic syndrome	1	1	STAT4 (3)	0.12500	1.00000	4.546e-4	9.545e-4	1
Distal axonal motor neuropathy-myofibrillar myopathy syndrome	Distal muscular dystrophy	1	1	HSPB8 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Distal muscular dystrophy	Hereditary axonal motor and sensory neuropathy	1	0	BICD2 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Distal muscular dystrophy	distal myopathy with vocal cord weakness	1	1	MATR3 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
distal myopathy with vocal cord weakness	Vogt-koyanagi-harada disease	1	1	MATR3 (2)	0.12500	1.00000	4.546e-4	9.545e-4	1
46,xy sex reversal	Dosage-sensitive sex reversal	1	1	NR0B1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
DPAGT1-congenital disorder of glycosylation	Tubular aggregate myopathy	1	1	DPAGT1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	349
ciliary dyskinesia, primary, 39	Epidermal nevus	1	1	LRRC56 (2)	0.12500	1.00000	4.546e-4	9.545e-4	17
Coasy protein-associated neurodegeneration	Hallervorden spatz syndrome	1	1	COASY (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Coats disease	Exudative retinopathy	1	1	NDP (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Cobalamin c disease	methylmalonic aciduria and homocystinuria type cblC	1	1	MMACHC (6)	0.12500	1.00000	4.546e-4	9.545e-4	198
Cobalamin c disease	Cobalamin metabolism disorder	1	0	MMADHC (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Cobalamin c disease	inborn disorder of cobalamin metabolism and transport	1	1	MMADHC (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Coenzyme a synthase protein associated neurodegeneration	Hallervorden spatz syndrome	1	0	COASY (1)	0.12500	1.00000	4.546e-4	9.545e-4	
combined immunodeficiency due to STIM1 deficiency	Tubular aggregate myopathy	1	1	STIM1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
complex movement disorder with or without neurodevelopmental features	Torsion dystonia	1	1	HPCA (3)	0.12500	1.00000	4.546e-4	9.545e-4	172
Congenital atransferrinemia	Hereditary hemochromatosis	1	1	TF (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital atransferrinemia	Iron overload	1	1	TF (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital cardiovascular anomaly	immunodeficiency 11b with atopic dermatitis	1	1	CARD11 (2)	0.12500	1.00000	4.546e-4	9.545e-4	335
Congenital cardiovascular anomaly	severe combined immunodeficiency due to CARD11 deficiency	1	1	CARD11 (2)	0.12500	1.00000	4.546e-4	9.545e-4	335
Congenital cardiovascular anomaly	Fanconi anemia complementation group C	1	1	FANCC (2)	0.12500	1.00000	4.546e-4	9.545e-4	335
Congenital cleft hand	Klippel-trenaunay syndrome	1	0	DLX5 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital factor xii deficiency	Hereditary angioedema	1	1	F12 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
congenital generalized lipodystrophy type 3	Generalized lipodystrophy	1	1	CAV1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	79
congenital generalized lipodystrophy type 3	Paroxysmal tachycardia	1	1	CAV1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital glaucoma	CYP1B1-related glaucoma with or without anterior segment dysgenesis	1	1	CYP1B1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Bockenheimer syndrome	Congenital glaucoma	1	1	TEK (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital glaucoma	Mucocutaneous venous malformations	1	1	TEK (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital glucokinase-related hyperinsulinism	Prediabetes	1	1	GCK (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital high-molecular-weight kininogen deficiency	Extravasation of diagnostic and therapeutic materials	1	1	KNG1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital high-molecular-weight kininogen deficiency	Hereditary angioedema	1	1	KNG1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital muscular dystrophy due to dystroglycanopathy	myopathy caused by variation in GMPPB	1	1	GMPPB (2)	0.12500	1.00000	4.546e-4	9.545e-4	40
Congenital muscular dystrophy due to dystroglycanopathy	muscular dystrophy-dystroglycanopathy	1	1	LARGE1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	40
Congenital cardiovascular anomaly	congenital myasthenic syndrome 10	1	1	DOK7 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital idiopathic intestinal pseudoobstruction	Congenital omphalocele	1	1	FLNA (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital omphalocele	Otopalatodigital spectrum disorder	1	1	FLNA (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital omphalocele	Terminal osseous dysplasia with pigmentary defects	1	1	FLNA (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital omphalocele	X-linked ehlers-danlos syndrome	1	1	FLNA (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital septal defect of heart	methylcobalamin deficiency type cblE	1	1	MTRR (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital septal defect of heart	Interrupted aortic arch	1	0	NKX2-5 (1)	0.12500	1.00000	4.546e-4	9.545e-4	166
Congenital septal defect of heart	NKX2.5-related congenital, conduction and myopathic heart disease	1	1	NKX2-5 (2)	0.12500	1.00000	4.546e-4	9.545e-4	166
Congenital septal defect of heart	vertebral anomalies and variable endocrine and t-cell dysfunction	1	1	TBX2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital sialidosis	Mucolipidosis	1	1	NEU1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital venous anomaly	Rupture, spontaneous	1	1	COL5A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Continuous spike and wave during sleep syndrome	Familial temporal lobe epilepsy	1	1	GRIN2A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Coproporphyria	Porphyria cutanea tarda	1	1	CPOX (2)	0.12500	1.00000	4.546e-4	9.545e-4	
CPOX-related hereditary coproporphyria	Porphyria cutanea tarda	1	1	CPOX (3)	0.12500	1.00000	4.546e-4	9.545e-4	
craniofacial dysplasia - osteopenia syndrome	Frontonasal dysplasia	1	1	IRX5 (5)	0.12500	1.00000	4.546e-4	9.545e-4	
craniofrontonasal syndrome	Frontonasal dysplasia	1	1	EFNB1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Creatine phosphokinase elevation	Tubular aggregate myopathy	1	1	CAV3 (3)	0.12500	1.00000	4.546e-4	9.545e-4	349
Cryptophthalmia	Cryptophthalmos syndrome	1	1	FREM2 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Cryptophthalmos syndrome	Cryptotria	1	1	FREM2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Cardiac-urogenital syndrome	Dextrocardia	1	1	MYRF (6)	0.12500	1.00000	4.546e-4	9.545e-4	54
cardiomyopathy, dilated, 2l	Distal muscular dystrophy	1	1	LDB3 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Carney complex	Carney complex, type 1	1	1	PRKAR1A (8)	0.12500	1.00000	4.546e-4	9.545e-4	
Carotid intima-media thickness	Generalized lipodystrophy	1	0	PPARG (1)	0.12500	1.00000	4.546e-4	9.545e-4	79
Carotid intima-media thickness	Follicular thyroid cancer	1	1	PPARG (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Castleman disease	Prediabetes	1	1	IL6 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Caveolinopathy	Tubular aggregate myopathy	1	1	CAV3 (3)	0.12500	1.00000	4.546e-4	9.545e-4	349
Cerebellar ataxia with deafness and narcolepsy	Cerebral atrophy	1	1	DNMT1 (5)	0.12500	1.00000	4.546e-4	9.545e-4	332
Cerebellar ataxia, deafness, and narcolepsy	Cerebral atrophy	1	1	DNMT1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	332
Cerebellar cortical atrophy	Hereditary elliptocytosis	1	0	MYO5A (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Cerebellar diseases	Intellectual developmental disorder microcephaly cerebellar	1	1	CASK (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Cerebellar diseases	Mowat-wilson syndrome	1	1	ZEB2 (7)	0.12500	1.00000	4.546e-4	9.545e-4	345
Cerebellar diseases	joubert syndrome 3	1	1	AHI1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Cerebellar diseases	Revesz debuse syndrome	1	1	TINF2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	345
Cerebellar diseases	Revesz syndrome	1	1	TINF2 (6)	0.12500	1.00000	4.546e-4	9.545e-4	345
Cerebral atrophy	Intellectual developmental disorder expressive speech dysmorphic	1	1	SETBP1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Cerebral atrophy	Schinzel-Giedion syndrome	1	1	SETBP1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Cervical dystonia	Torsion dystonia	1	1	CIZ1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	172
Charcot-Marie-Tooth disease dominant intermediate E	Hereditary motor and sensory neuropathy	1	1	INF2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	168
Charcot-Marie-Tooth disease type 2A2	Hereditary motor and sensory neuropathy	1	1	MFN2 (5)	0.12500	1.00000	4.546e-4	9.545e-4	168
Chiari-frommel syndrome	obsolete early infantile epileptic encephalopathy	1	1	GAD1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	118
Childhood apraxia of speech	Russell-silver syndrome	1	1	FOXP2 (3)	0.12500	1.00000	4.546e-4	9.545e-4	323
Childhood ataxia with cns hypomyelination	leukoencephalopathy with vanishing white matter 3	1	1	EIF2B3 (2)	0.12500	1.00000	4.546e-4	9.545e-4	174
Childhood ataxia with cns hypomyelination	leukoencephalopathy with vanishing white matter 1	1	1	EIF2B1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	174
Benign hereditary chorea	Choreoacanthocytosis	1	1	VPS13A (3)	0.12500	1.00000	4.546e-4	9.545e-4	1
Astigmatism	Christianson syndrome	1	1	SLC9A6 (2)	0.12500	1.00000	4.546e-4	9.545e-4	282
Chromophobe renal cell carcinoma	Diabetes mellitus ketosis prone	1	1	HNF1A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Benign congenital myopathy	Leiomyosarcoma	1	1	DMD (2)	0.12500	1.00000	4.546e-4	9.545e-4	212
Benign mesial temporal lobe epilepsy	Familial temporal lobe epilepsy	1	1	CPA6 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Benta disease	Congenital cardiovascular anomaly	1	1	CARD11 (4)	0.12500	1.00000	4.546e-4	9.545e-4	335
BEST1-related dominant retinopathy	Iron overload	1	1	BEST1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Beta-propeller protein-associated neurodegeneration	Hallervorden spatz syndrome	1	1	WDR45 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Beta-sarcoglycanopathy	Mucolipidosis	1	1	SGCB (2)	0.12500	1.00000	4.546e-4	9.545e-4	121
Binge eating disorder	familial hypobetalipoproteinemia 1	1	1	APOB (2)	0.12500	1.00000	4.546e-4	9.545e-4	201
Binge eating disorder	hypercholesterolemia, autosomal dominant, type B	1	1	APOB (2)	0.12500	1.00000	4.546e-4	9.545e-4	201
bone marrow failure syndrome 3	Shwachman-diamond syndrome	1	1	DNAJC21 (7)	0.12500	1.00000	4.546e-4	9.545e-4	319
Bone marrow neoplasms	Hepatic veno occlusive disease	1	1	CSF3 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Bone marrow neoplasms	Leiomyosarcoma	1	0	CSF3 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Bonnevie-ullrich syndrome	Esophageal stenosis	1	1	SOD2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Benign hereditary chorea	Brain-lung-thyroid syndrome	1	1	NKX2-1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Brainstem atrophy	Mucolipidosis	1	1	MCOLN1 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Branched-chain keto acid dehydrogenase kinase deficiency	Maple syrup urine disease	1	1	BCKDK (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Asymmetric crying face association	Branchiootorenal syndrome	1	1	EYA1 (5)	0.12500	1.00000	4.546e-4	9.545e-4	134
Acro-dermo-ungual-lacrimal-tooth syndrome	Breast disease	1	1	TP63 (3)	0.12500	1.00000	4.546e-4	9.545e-4	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Breast disease	1	1	TP63 (6)	0.12500	1.00000	4.546e-4	9.545e-4	30
Breast disease	Limb-mammary syndrome	1	1	TP63 (5)	0.12500	1.00000	4.546e-4	9.545e-4	30
Brown oculocutaneous albinism	Skin hair eye pigmentation variation	1	1	OCA2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Brunner syndrome	Dysthymic disorder	1	1	MAOA (5)	0.12500	1.00000	4.546e-4	9.545e-4	
C9 deficiency	Terminal complement component deficiency	1	1	C9 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Carcinoid syndrome	hereditary pheochromocytoma-paraganglioma	1	1	SDHD (2)	0.12500	1.00000	4.546e-4	9.545e-4	78
16q24.3 microdeletion syndrome	Astigmatism	1	1	ANKRD11 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
17-beta-hydroxysteroid dehydrogenase deficiency	46,xy disorder of sex developmen	1	1	HSD17B3 (5)	0.12500	1.00000	4.546e-4	9.545e-4	363
17,20-lyase deficiency	46,xy disorder of sex developmen	1	0	CYP17A1 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
22q11 deletion syndrome	Cyclocephaly	1	1	FGF8 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
46 XY differences of sex development	46,xy disorder of sex developmen	1	1	DMRT1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
46 XY differences of sex development	Testicular neoplasms	1	1	DMRT1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
46,xy disorder of sex developmen	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
ABCA4-related retinopathy	Mandibulofacial dysostosis	1	1	ABCA4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Absence epilepsy	Benign paroxysmal torticollis of infancy	1	1	CACNA1A (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Absence epilepsy	Conn syndrome	1	1	CACNA1H (2)	0.12500	1.00000	4.546e-4	9.545e-4	227
Absence epilepsy	Juvenile absence epilepsy	1	1	EFHC1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	227
Acatalasia	Bonnevie-ullrich syndrome	1	1	CAT (3)	0.12500	1.00000	4.546e-4	9.545e-4	294
Aceruloplasminemia	Iron overload	1	1	CP (4)	0.12500	1.00000	4.546e-4	9.545e-4	188
Achromatopsia	ATF6-related retinopathy	1	1	ATF6 (3)	0.12500	1.00000	4.546e-4	9.545e-4	295
Achromatopsia	CNGA3-related retinopathy	1	1	CNGA3 (4)	0.12500	1.00000	4.546e-4	9.545e-4	295
Achromatopsia	CNGB3-related retinopathy	1	1	CNGB3 (3)	0.12500	1.00000	4.546e-4	9.545e-4	295
Achromatopsia	GNAT2-related retinopathy	1	1	GNAT2 (3)	0.12500	1.00000	4.546e-4	9.545e-4	295
Achromatopsia	PDE6C-related retinopathy	1	1	PDE6C (2)	0.12500	1.00000	4.546e-4	9.545e-4	295
Acromesomelic dysplasia	DDX41-related hematologic malignancy predisposition syndrome	1	1	DDX41 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Acromesomelic dysplasia	Trident hand	1	0	NPR2 (1)	0.12500	1.00000	4.546e-4	9.545e-4	28
Acromesomelic dysplasia	Angel-shaped phalangoepiphyseal dysplasia	1	1	GDF5 (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Adrenal gland neoplasms	pitt-hopkins syndrome	1	1	TCF4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	283
Albinism	Skin hair eye pigmentation variation	1	1	TPCN2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	302
amyotrophic lateral sclerosis type 1	Bonnevie-ullrich syndrome	1	1	SOD1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	294
Anaphylaxis	Congenital high-molecular-weight kininogen deficiency	1	1	KNG1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Anaphylaxis	Hyperesthesia	1	0	KNG1 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Anaphylaxis	Infantile neurological cutaneous and articular syndrome	1	1	NLRP3 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Anaphylaxis	Cinca syndrome	1	1	NLRP3 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Angiofollicular ganglionic hyperplasia	Prediabetes	1	0	IL6 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Angiolymphoid hyperplasia	Prediabetes	1	0	IL6 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Anterior compartment syndrome	Intracranial vasospasm	1	1	HMOX1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	194
Gallbladder disease	progressive familial intrahepatic cholestasis type 3	1	1	ABCB4 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
generalized epilepsy-paroxysmal dyskinesia syndrome	Gingival diseases	1	1	KCNMA1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Genetic syndromic pierre robin syndrome	Mandibulofacial dysostosis	1	1	EFTUD2 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Genetic transient congenital hypothyroidism	Thyroid dyshormonogenesis	1	1	DUOX2 (6)	0.12500	1.00000	4.546e-4	9.545e-4	102
Gingival diseases	Hyaline fibromatosis	1	1	ANTXR2 (5)	0.12500	1.00000	4.546e-4	9.545e-4	334
Gingival diseases	Gingivitis	1	1	TNFRSF8 (2)	0.12500	1.00000	4.546e-4	9.545e-4	334
GNPTAB-mucolipidosis	Mucolipidosis	1	1	GNPTAB (7)	0.12500	1.00000	4.546e-4	9.545e-4	
GNPTG-mucolipidosis	Mucolipidosis	1	1	GNPTG (5)	0.12500	1.00000	4.546e-4	9.545e-4	121
Griscelli syndrome type 1	Hereditary elliptocytosis	1	1	MYO5A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Hallervorden spatz syndrome	Palmoplantar keratoderma with congenital alopecia	1	1	GJA1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	107
Hallervorden spatz syndrome	PLA2G6-associated neurodegeneration	1	1	PLA2G6 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Hallervorden spatz syndrome	Pantothenate kinase-associated neurodegeneration	1	1	PANK2 (4)	0.12500	1.00000	4.546e-4	9.545e-4	107
hearing loss, autosomal recessive 116	Pendred syndrome	1	1	CLDN9 (2)	0.12500	1.00000	4.546e-4	9.545e-4	157
Carney complex	Hecht syndrome	1	1	MYH8 (5)	0.12500	1.00000	4.546e-4	9.545e-4	
heme oxygenase 1 deficiency	Intracranial vasospasm	1	1	HMOX1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	194
Heme oxygenase deficiency	Intracranial vasospasm	1	1	HMOX1 (7)	0.12500	1.00000	4.546e-4	9.545e-4	194
Hemihyperplasia	Russell-silver syndrome	1	0	IGF2 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Hemimegalencephaly	PTEN hamartoma tumor syndrome	1	1	PTEN (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Clapo syndrome	Hemimegalencephaly	1	1	PIK3CA (3)	0.12500	1.00000	4.546e-4	9.545e-4	
hemochromatosis type 1	Hepatic veno occlusive disease	1	1	HFE (2)	0.12500	1.00000	4.546e-4	9.545e-4	251
hemochromatosis type 2B	Hereditary hemochromatosis	1	1	HAMP (2)	0.12500	1.00000	4.546e-4	9.545e-4	148
hemochromatosis type 2B	Iron overload	1	1	HAMP (3)	0.12500	1.00000	4.546e-4	9.545e-4	
hemochromatosis type 3	Hereditary hemochromatosis	1	1	TFR2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	148
hemochromatosis type 4	Hereditary hemochromatosis	1	1	SLC40A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
hemochromatosis type 4	Iron overload	1	1	SLC40A1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	188
hemochromatosis type 5	Iron overload	1	1	FTH1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Hemosiderosis	Iron overload	1	1	CP (2)	0.12500	1.00000	4.546e-4	9.545e-4	188
Hepatic veno occlusive disease	Microvascular angina	1	1	MTHFR (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Hepatoerythropoietic porphyria	Porphyria cutanea tarda	1	1	UROD (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary angioedema	Hyperesthesia	1	1	KNG1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary angioedema	Hereditary c1 esterase inhibitor deficiency	1	1	SERPING1 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary angioedema	hereditary angioedema with C1Inh deficiency	1	1	SERPING1 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary angioedema	hereditary angioedema type 3	1	1	F12 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary coproporphyria	Porphyria cutanea tarda	1	1	CPOX (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary elliptocytosis	Neonatal anemia	1	1	SPTB (4)	0.12500	1.00000	4.546e-4	9.545e-4	271
Hereditary elliptocytosis	Perinatal hemolytic anemia	1	1	SPTB (4)	0.12500	1.00000	4.546e-4	9.545e-4	271
hereditary leiomyomatosis and renal cell cancer	Leiomyosarcoma	1	1	FH (2)	0.12500	1.00000	4.546e-4	9.545e-4	212
Hereditary motor and sensory neuropathy	multiple symmetric lipomatosis with partial lipodystrophy	1	1	MFN2 (5)	0.12500	1.00000	4.546e-4	9.545e-4	168
Hereditary motor and sensory neuropathy	neuropathy, hereditary motor and sensory, type 6B	1	1	SLC25A46 (6)	0.12500	1.00000	4.546e-4	9.545e-4	168
hermansky-pudlak syndrome 7	Sensory peripheral neuropathy	1	1	DTNBP1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Cerebellar diseases	dyskeratosis congenita, autosomal dominant 3	1	1	TINF2 (3)	0.12500	1.00000	4.546e-4	9.545e-4	345
Benign hereditary chorea	Dyskinesia with orofacial involvement	1	1	ADCY5 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Benign hereditary chorea	Dyskinesia, familial, with facial myokymia	1	1	ADCY5 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Dysthymic disorder	Early-onset obesity-hyperphagia-severe developmental delay syndrome	1	1	NTRK2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	392
Dacryocystitis	Dysthymic disorder	1	0	IL1RN (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Dysthymic disorder	Sclerosis	1	1	IL1RN (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Dystrophinopathy	Leiomyosarcoma	1	1	DMD (2)	0.12500	1.00000	4.546e-4	9.545e-4	212
Early-onset epilepsy-intellectual disability-brain anomalies syndrome	Wolf-hirschhorn syndrome	1	1	PIGG (2)	0.12500	1.00000	4.546e-4	9.545e-4	205
East syndrome	Pendred syndrome	1	1	KCNJ10 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Hypohidrotic ectodermal dysplasia	1	1	EDAR (4)	0.12500	1.00000	4.546e-4	9.545e-4	76
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Hypohidrotic ectodermal dysplasia	1	1	KDF1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	76
ectodermal dysplasia WNT10A related	Hypohidrotic ectodermal dysplasia	1	1	WNT10A (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Emery dreifuss muscular dystrophy	Emery-dreifuss muscular dystrophy	1	1	LMNA (5)	0.12500	1.00000	4.546e-4	9.545e-4	83
Emery-dreifuss muscular dystrophy	Severe lipodystrophic laminopathy	1	1	LMNA (6)	0.12500	1.00000	4.546e-4	9.545e-4	83
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Emery-dreifuss muscular dystrophy	1	1	LMNA (5)	0.12500	1.00000	4.546e-4	9.545e-4	83
Emery-dreifuss muscular dystrophy	Lipoatrophic diabetes mellitus	1	1	LMNA (5)	0.12500	1.00000	4.546e-4	9.545e-4	83
Carney complex	Enamel-renal syndrome	1	1	FAM20A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital venous anomaly	EPHB4-associated vascular malformation spectrum	1	1	EPHB4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Epidermodysplasia verruciformis	epidermodysplasia verruciformis, susceptibility to, 4	1	1	RHOH (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Epidermodysplasia verruciformis	severe combined immunodeficiency due to CORO1A deficiency	1	1	CORO1A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Epilepsy with myoclonic atonic seizures	familial hemiplegic migraine	1	1	SCN1A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Chromosome 17q23.1-q23.2 deletion syndrome	Epilepsy with myoclonic atonic seizures	1	1	SLC2A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	99
Epilepsy with myoclonic atonic seizures	Glucose transporter type 1 deficiency syndrome	1	0	SLC2A1 (1)	0.12500	1.00000	4.546e-4	9.545e-4	99
Epilepsy with myoclonic absence	Epilepsy with myoclonic atonic seizures	1	1	SLC2A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	99
Epilepsy with myoclonic atonic seizures	GLUT1 deficiency syndrome	1	1	SLC2A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	99
Extravasation of diagnostic and therapeutic materials	Hyperesthesia	1	0	KNG1 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Dacryocystitis	Extravasation of diagnostic and therapeutic materials	1	1	IL1RN (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Exudative retinopathy	FZD4-related exudative vitreoretinopathy	1	1	FZD4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	189
Exudative retinopathy	RCBTB1-related retinopathy	1	1	RCBTB1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	189
Astigmatism	EYS-related retinopathy	1	1	EYS (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Factor xii deficiency	Hereditary angioedema	1	1	F12 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Fahr's disease	Myeloproliferative disease, unclassifiable	1	1	PDGFRB (3)	0.12500	1.00000	4.546e-4	9.545e-4	
familial hypobetalipoproteinemia 2	Hypoalphalipoproteinemia	1	1	ANGPTL3 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Familial temporal lobe epilepsy	Sacroiliac arthritis	1	1	RELN (4)	0.12500	1.00000	4.546e-4	9.545e-4	209
Familial temporal lobe epilepsy	Sacroiliac joint synovitis	1	1	RELN (4)	0.12500	1.00000	4.546e-4	9.545e-4	209
FAS-related autoimmune lymphoproliferative immune disorder	Uveomeningoencephalitic syndrome	1	1	FAS (2)	0.12500	1.00000	4.546e-4	9.545e-4	
FAS-related autoimmune lymphoproliferative immune disorder	Vogt-koyanagi-harada disease	1	1	FAS (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Familial temporal lobe epilepsy	Focal epilepsy with speech disorder and impaired intellectual development	1	1	GRIN2A (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Follicular thyroid cancer	Neurofibrosarcoma	1	0	NRAS (1)	0.12500	1.00000	4.546e-4	9.545e-4	17
Cryptophthalmos syndrome	fraser syndrome 3	1	1	GRIP1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	90
Frontonasal dysplasia	Frontonasal dysplasia with alopecia and genital anomaly	1	1	ALX4 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Frontonasal dysplasia	Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	1	1	ALX1 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Frontonasal dysplasia	frontorhiny	1	1	ALX3 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Diabetes mellitus ketosis prone	Interleukin 2 receptor deficiency	1	1	IL2RA (2)	0.12500	1.00000	4.546e-4	9.545e-4	
hereditary pheochromocytoma-paraganglioma	Intestinal cancer	1	0	SDHD (1)	0.12500	1.00000	4.546e-4	9.545e-4	78
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	Russell-silver syndrome	1	1	CDKN1C (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Iodide peroxidase deficiency	Thyroid dyshormonogenesis	1	1	TPO (6)	0.12500	1.00000	4.546e-4	9.545e-4	102
Iron overload	iron overload, susceptibility to	1	1	BMP6 (4)	0.12500	1.00000	4.546e-4	9.545e-4	188
Bonnevie-ullrich syndrome	Isolated somatotropin deficiency	1	1	GH1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary hemorrhagic telangiectasia	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	1	1	SMAD4 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Proteasome associated autoinflammatory syndrome	1	1	POMP (6)	0.12500	1.00000	4.546e-4	9.545e-4	
keutel syndrome	Varicose veins	1	1	MGP (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Kleine-levin syndrome	NAA10-related syndrome	1	1	NAA10 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	Klippel-feil syndrome	1	1	MYO18B (6)	0.12500	1.00000	4.546e-4	9.545e-4	52
Congenital omphalocele	LAMA5-related multisystemic syndrome	1	1	LAMA5 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Leiomyosarcoma	PTEN hamartoma tumor syndrome	1	1	PTEN (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Leiomyosarcoma	progressive muscular dystrophy	1	1	DMD (2)	0.12500	1.00000	4.546e-4	9.545e-4	212
Carcinoma in situ	Leiomyosarcoma	1	0	PTGS2 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital deformity of clavicle	lethal congenital contracture syndrome 11	1	1	GLDN (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
Congenital deformity of elbow	lethal congenital contracture syndrome 11	1	1	GLDN (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
Congenital deformity of forearm	lethal congenital contracture syndrome 11	1	1	GLDN (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
Congenital deformity of scapula	lethal congenital contracture syndrome 11	1	1	GLDN (2)	0.12500	1.00000	4.546e-4	9.545e-4	61
Childhood ataxia with cns hypomyelination	leukoencephalopathy with vanishing white matter 2	1	1	EIF2B2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	174
Childhood ataxia with cns hypomyelination	leukoencephalopathy with vanishing white matter 4	1	1	EIF2B4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	174
Childhood ataxia with cns hypomyelination	leukoencephalopathy with vanishing white matter 5	1	1	EIF2B5 (2)	0.12500	1.00000	4.546e-4	9.545e-4	174
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Renal hypertension	1	1	MYH9 (3)	0.12500	1.00000	4.546e-4	9.545e-4	407
male infertility due to globozoospermia	Male infertility round headed spermatozoa	1	1	DPY19L2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Carney complex	Trismus-pseudocamptodactyly syndrome	1	1	MYH8 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Torsion dystonia	TUBB4A-related neurologic disorder	1	1	TUBB4A (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Porphyria cutanea tarda	UROD-related inherited porphyria	1	1	UROD (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Branchiootorenal syndrome	Usher syndrome type 3	1	1	CLRN1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	134
Peptic esophagitis	Vitamin d dependent rickets	1	1	VDR (5)	0.12500	1.00000	4.546e-4	9.545e-4	342
Vitamin d dependent rickets	vitamin D-dependent rickets, type 1A	1	1	CYP27B1 (6)	0.12500	1.00000	4.546e-4	9.545e-4	342
Klippel-trenaunay syndrome	Waardenburg anophthalmia syndrome	1	0	SMOC1 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Witkop syndrome	Wolf-hirschhorn syndrome	1	1	MSX1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	205
46,xy sex reversal	X-linked adrenal hypoplasia congenita	1	1	NR0B1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Thyroid agenesis	X-linked central congenital hypothyroidism with late-onset testicular enlargement	1	1	IGSF1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	102
Hallervorden spatz syndrome	X-linked cerebral cerebellar coloboma syndrome	1	0	WDR45 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Hyper-igm immunodeficiency syndrome	X-linked hyper-igm syndrome	1	1	CD40LG (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Hallervorden spatz syndrome	X-linked optic atrophy	1	0	WDR45 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Mandibulofacial dysostosis	mandibulofacial dysostosis-microcephaly syndrome	1	1	EFTUD2 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Maple syrup urine disease	maple syrup urine disease type 1B	1	1	BCKDHB (7)	0.12500	1.00000	4.546e-4	9.545e-4	404
Maple syrup urine disease	maple syrup urine disease type 1A	1	1	BCKDHA (8)	0.12500	1.00000	4.546e-4	9.545e-4	404
Maple syrup urine disease	maple syrup urine disease, mild variant	1	1	PPM1K (8)	0.12500	1.00000	4.546e-4	9.545e-4	404
Bilateral multicystic dysplastic kidney	Mayer-rokitansky-kuster-hauser syndrome	1	1	HNF1B (2)	0.12500	1.00000	4.546e-4	9.545e-4	145
Mayer-rokitansky-kuster-hauser syndrome	Renal dysplasia	1	1	HNF1B (2)	0.12500	1.00000	4.546e-4	9.545e-4	145
Giant cell tumor of tendon sheath	Mayer-rokitansky-kuster-hauser syndrome	1	1	HNF1B (3)	0.12500	1.00000	4.546e-4	9.545e-4	145
Mayer-rokitansky-kuster-hauser syndrome	Multicystic dysplastic kidney	1	1	HNF1B (3)	0.12500	1.00000	4.546e-4	9.545e-4	145
46,xy disorder of sex developmen	methemoglobinemia type 4	1	1	CYB5A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Cobalamin c disease	methylmalonic acidemia with homocystinuria, type cblJ	1	1	ABCD4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	198
Cobalamin c disease	methylmalonic aciduria and homocystinuria type cblF	1	1	LMBRD1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Megacystis microcolon intestinal hypoperistalsis syndrome	microcephaly with lissencephaly and/or hydranencephaly	1	1	NDE1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Megacystis microcolon intestinal hypoperistalsis syndrome	Microhydranencephaly	1	1	NDE1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Mucoepidermoid carcinoma	Testicular neoplasms	1	0	BAP1 (1)	0.12500	1.00000	4.546e-4	9.545e-4	368
Ataxia-hypogonadism-choroidal dystrophy syndrome	Mucolipidosis	1	1	PNPLA6 (3)	0.12500	1.00000	4.546e-4	9.545e-4	121
Boucher-neuhauser syndrome	Mucolipidosis	1	1	PNPLA6 (2)	0.12500	1.00000	4.546e-4	9.545e-4	121
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	Mucolipidosis	1	1	PNPLA6 (2)	0.12500	1.00000	4.546e-4	9.545e-4	121
Mucolipidosis	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	1	1	PNPLA6 (3)	0.12500	1.00000	4.546e-4	9.545e-4	121
Mucolipidosis	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	1	1	PNPLA6 (2)	0.12500	1.00000	4.546e-4	9.545e-4	121
Mucolipidosis	mucolipidosis type IV	1	1	MCOLN1 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital muscular dystrophy due to dystroglycanopathy	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	1	1	B3GALNT2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary hemorrhagic telangiectasia	Myhre syndrome	1	1	SMAD4 (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital muscular dystrophy due to dystroglycanopathy	myopathy caused by variation in CRPPA	1	1	CRPPA (2)	0.12500	1.00000	4.546e-4	9.545e-4	40
Congenital muscular dystrophy due to dystroglycanopathy	myopathy caused by variation in FKRP	1	1	FKRP (2)	0.12500	1.00000	4.546e-4	9.545e-4	40
Congenital muscular dystrophy due to dystroglycanopathy	myopathy caused by variation in POMGNT1	1	1	POMGNT1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	40
Nausea	Refractory anemia	1	1	TNF (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Eye pain	Nausea	1	0	POMC (1)	0.12500	1.00000	4.546e-4	9.545e-4	101
Hallervorden spatz syndrome	neurodegeneration with brain iron accumulation 4	1	1	C19orf12 (2)	0.12500	1.00000	4.546e-4	9.545e-4	107
Iron overload	neurodegeneration with brain iron accumulation 9	1	1	FTH1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Periventricular heterotopia with microcephaly, autosomal recessive	Periventricular heterotopia, x-linked	1	1	ARFGEF2 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Periventricular heterotopia, x-linked	Periventricular laminar heterotopia	1	0	ARFGEF2 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital idiopathic intestinal pseudoobstruction	Periventricular heterotopia, x-linked	1	1	FLNA (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Otopalatodigital spectrum disorder	Periventricular heterotopia, x-linked	1	1	FLNA (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Periventricular heterotopia, x-linked	periventricular nodular heterotopia 7	1	1	NEDD4L (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Cerebral atrophy	PMM2-congenital disorder of glycosylation	1	1	PMM2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Mandibulofacial dysostosis	POLR1C-related disorder	1	1	POLR1C (3)	0.12500	1.00000	4.546e-4	9.545e-4	
hereditary pheochromocytoma-paraganglioma	Polydactyly-macrocephaly syndrome	1	1	MAX (5)	0.12500	1.00000	4.546e-4	9.545e-4	78
Hyper-igd syndrome	Porokeratosis	1	1	MVK (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Keratitis ichthyosis hearing loss syndrome	Porokeratosis	1	1	GJB2 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Bart-pumphrey syndrome	Porokeratosis	1	1	GJB2 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
hemochromatosis type 1	Porphyria cutanea tarda	1	1	HFE (3)	0.12500	1.00000	4.546e-4	9.545e-4	251
Porphyria cutanea tarda	porphyria due to ALA dehydratase deficiency	1	1	ALAD (2)	0.12500	1.00000	4.546e-4	9.545e-4	251
Maple syrup urine disease	pyruvate dehydrogenase E3 deficiency	1	1	DLD (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Renal hypertension	Sebastian syndrome	1	1	MYH9 (2)	0.12500	1.00000	4.546e-4	9.545e-4	407
Collagenopathy	Rhegmatogenous retinal detachment	1	1	COL2A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	15
Coxa plana	Rhegmatogenous retinal detachment	1	0	COL2A1 (1)	0.12500	1.00000	4.546e-4	9.545e-4	15
Czech dysplasia	Rhegmatogenous retinal detachment	1	1	COL2A1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	15
Dysspondyloenchondromatosis	Rhegmatogenous retinal detachment	1	1	COL2A1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	15
kniest dysplasia	Rhegmatogenous retinal detachment	1	1	COL2A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	15
Exudative retinopathy	RHO-related retinopathy	1	1	RHO (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital septal defect of heart	Right bundle branch block	1	0	BMPR2 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Congenital septal defect of heart	Right cardiac ventricular dilatation	1	0	BMPR2 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Rufous oculocutaneous albinism	Skin hair eye pigmentation variation	1	1	TYRP1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	302
Russell-silver syndrome	silver-russell syndrome 5	1	1	HMGA2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Sensory peripheral neuropathy	Wilson disease	1	1	ATP7B (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Severe neonatal spondylometaphyseal dysplasia	Shwachman-diamond syndrome	1	1	SBDS (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Shwachman-diamond syndrome	shwachman-diamond syndrome 2	1	1	EFL1 (6)	0.12500	1.00000	4.546e-4	9.545e-4	319
Mucolipidosis	Sialidosis	1	1	NEU1 (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Russell-silver syndrome	silver-russell syndrome 3	1	1	IGF2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Generalized lipodystrophy	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	1	1	PCYT1A (2)	0.12500	1.00000	4.546e-4	9.545e-4	79
Hereditary hemorrhagic telangiectasia	telangiectasia, hereditary hemorrhagic, type 1	1	1	ENG (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary hemorrhagic telangiectasia	telangiectasia, hereditary hemorrhagic, type 2	1	1	ACVRL1 (7)	0.12500	1.00000	4.546e-4	9.545e-4	
Hereditary hemorrhagic telangiectasia	telangiectasia, hereditary hemorrhagic, type 5	1	1	GDF2 (7)	0.12500	1.00000	4.546e-4	9.545e-4	65
Testicular neoplasms	xeroderma pigmentosum group F	1	1	ERCC4 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
46,xy sex reversal	Testicular regression syndrome	1	1	DHX37 (2)	0.12500	1.00000	4.546e-4	9.545e-4	149
Pemphigus vulgaris	Thiopurine immunosuppressant-induced pancreatitis	1	0	HLA-DQB3 (1)	0.12500	1.00000	4.546e-4	9.545e-4	1
Interrupted aortic arch	Thyroid agenesis	1	0	NKX2-5 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
tooth agenesis, selective, 1	Wolf-hirschhorn syndrome	1	1	MSX1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	205
Tooth and nail syndrome	Wolf-hirschhorn syndrome	1	1	MSX1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	205
Torsion dystonia	Whispering dysphonia	1	1	TUBB4A (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Mandibulofacial dysostosis	treacher collins syndrome 2	1	1	POLR1D (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Mandibulofacial dysostosis	treacher collins syndrome 3	1	1	POLR1C (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Mandibulofacial dysostosis	treacher collins syndrome 4	1	1	POLR1B (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Astigmatism	Trichiasis	1	0	MCM7 (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Epidermal nevus	Neurofibrosarcoma	1	1	NRAS (3)	0.12500	1.00000	4.546e-4	9.545e-4	17
Neurofibrosarcoma	Nonmedullary thyroid cancer	1	1	NRAS (3)	0.12500	1.00000	4.546e-4	9.545e-4	17
Distal muscular dystrophy	neuronopathy, distal hereditary motor, autosomal dominant	1	1	HSPB8 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Benign hereditary chorea	NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	1	1	NKX2-1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
non-syndromic X-linked intellectual disability	Say meyer syndrome	1	1	HUWE1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	117
Exudative retinopathy	norrie disease	1	1	NDP (2)	0.12500	1.00000	4.546e-4	9.545e-4	
46,xy sex reversal	NR5A1-related sex development disorder	1	1	NR5A1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Focal cortical dysplasia	NTHL1-deficiency tumor predisposition syndrome	1	1	NTHL1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	48
oculocutaneous albinism type 2	Skin hair eye pigmentation variation	1	1	OCA2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Osteolysis	Refractory anemia	1	1	TNF (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Branchiootorenal syndrome	otofaciocervical syndrome 2	1	1	PAX1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	134
Cerebellar diseases	Pancreatic beta-cell agenesis with neonatal diabetes mellitus	1	1	PTF1A (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Paroxysmal tachycardia	primary ciliary dyskinesia 5	1	1	HYDIN (2)	0.12500	1.00000	4.546e-4	9.545e-4	140
dilated cardiomyopathy 1E	Paroxysmal tachycardia	1	1	SCN5A (2)	0.12500	1.00000	4.546e-4	9.545e-4	140
Paroxysmal tachycardia	SCN5A-related cardiac rhythm disorder	1	1	SCN5A (2)	0.12500	1.00000	4.546e-4	9.545e-4	140
Pendred syndrome	Sensorineural hearing loss thrombocytopenia syndrome	1	1	DIAPH1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	157
Pendred syndrome	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	1	1	DIAPH1 (2)	0.12500	1.00000	4.546e-4	9.545e-4	157
Bonnevie-ullrich syndrome	Peptic esophagitis	1	0	VDR (1)	0.12500	1.00000	4.546e-4	9.545e-4	
Hyaline fibromatosis	Osteolysis	1	1	ANTXR2 (4)	0.12500	1.00000	4.546e-4	9.545e-4	
Hyper-igm immunodeficiency syndrome	hyper-IgM syndrome type 1	1	1	CD40LG (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Hyper-igm immunodeficiency syndrome	hyper-IgM syndrome type 2	1	1	AICDA (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Hyper-igm immunodeficiency syndrome	hyper-IgM syndrome type 3	1	1	CD40 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
Hyper-igm immunodeficiency syndrome	hyper-IgM syndrome type 5	1	1	UNG (5)	0.12500	1.00000	4.546e-4	9.545e-4	
hypercholesterolemia, autosomal dominant, 3	Hypoalphalipoproteinemia	1	1	PCSK9 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Cerebral atrophy	hyperinsulinemic hypoglycemia with polycystic kidney disease	1	1	PMM2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	
hyperinsulinism due to glucokinase deficiency	Prediabetes	1	1	GCK (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Chiari-frommel syndrome	Hyperprolactinemia	1	1	PRLR (4)	0.12500	1.00000	4.546e-4	9.545e-4	118
Hypervalinemia	Maple syrup urine disease	1	1	BCAT2 (6)	0.12500	1.00000	4.546e-4	9.545e-4	
hypervalinemia and hyperleucine-isoleucinemia	Maple syrup urine disease	1	1	BCAT2 (3)	0.12500	1.00000	4.546e-4	9.545e-4	
Aapoai amyloidosis	Hypoalphalipoproteinemia	1	1	APOA1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	293
Apolipoprotein a-i amyloidosis	Hypoalphalipoproteinemia	1	1	APOA1 (4)	0.12500	1.00000	4.546e-4	9.545e-4	293
Hypohidrotic ectodermal dysplasia	Schopf-schulz-passarge syndrome	1	1	WNT10A (4)	0.12500	1.00000	4.546e-4	9.545e-4	
immunodeficiency 121 with autoinflammation	Proteasome associated autoinflammatory syndrome	1	1	PSMB10 (5)	0.12500	1.00000	4.546e-4	9.545e-4	
Central nervous system non-hodgkin lymphoma	immunodeficiency 60	1	1	BACH2 (2)	0.12500	1.00000	4.546e-4	9.545e-4	1
Diabetes mellitus ketosis prone	immunodeficiency due to CD25 deficiency	1	1	IL2RA (2)	0.12500	1.00000	4.546e-4	9.545e-4	
Hyper-igm immunodeficiency syndrome	immunodeficiency, common variable, 2	1	1	TNFRSF13B (2)	0.12500	1.00000	4.546e-4	9.545e-4	12
Epilepsy with myoclonic atonic seizures	Intellectual developmental disorder seizures epilepsy	1	1	AP2M1 (3)	0.12500	1.00000	4.546e-4	9.545e-4	99
Coronary aneurysm	Eating disorder	3	0	CAMK1D (1), CSMD1 (1), MACROD2 (1)	0.02941	0.09375	4.411e-4	9.545e-4	
Bell's palsy	Peritoneal disease	2	0	DISC1 (1), ERBB4 (1)	0.03125	0.22222	4.601e-4	9.659e-4	
Language development disorders	Specific language disorder	2	2	CNTNAP2 (2), FOXP2 (4)	0.04545	0.10526	4.606e-4	9.669e-4	
Crest syndrome	Mixed connective tissue disease	2	1	FBN1 (1), HLA-DRB1 (2)	0.04545	0.09524	4.802e-4	1.008e-3	
Brachydactyly	Uterine polyp	2	2	BMPR1B (7), TRPS1 (2)	0.04545	0.09524	4.802e-4	1.008e-3	
Dystonia, dopa-responsive, with or without hyperphenylalaninemia	Tyrosine hydroxylase–deficient dopa-responsive dystonia	1	1	TSPOAP1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
17q12 microdeletion syndrome	Uterine cancer	1	1	HNF1B (2)	0.16667	0.50000	5.195e-4	1.041e-3	145
Renovascular hypertension	Ventricular ectopy	1	1	NOS3 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Anodontia	Verloes-bourguignon syndrome	1	1	LTBP3 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Very long chain acyl-coa dehydrogenase deficiency	Vulto-van silfhout-de vries syndrome	1	0	DLG4 (1)	0.16667	0.50000	5.195e-4	1.041e-3	106
Doyne honeycomb retinal dystrophy	Visual system disorder	1	1	EFEMP1 (7)	0.16667	0.50000	5.195e-4	1.041e-3	
Pancreatic cyst	Von hippel-lindau syndrome	1	1	VHL (7)	0.16667	0.50000	5.195e-4	1.041e-3	403
Vulto-van silfhout-de vries syndrome	Yorifuji okuno syndrome	1	0	DLG4 (1)	0.16667	0.50000	5.195e-4	1.041e-3	106
Congenital scoliosis	Weill-marchesani syndrome	1	1	FBN1 (7)	0.16667	0.50000	5.195e-4	1.041e-3	28
Cardiac injury	Wernicke-korsakoff syndrome	1	1	ALDH2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Polycystic kidney disease with tuberous sclerosis	Xanthinuria	1	1	TSC2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	48
Polycystic kidneys, severe infantile with tuberous sclerosis	Xanthinuria	1	0	TSC2 (1)	0.16667	0.50000	5.195e-4	1.041e-3	48
Deafness, digenic	Xeroderma	1	1	GJB2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	68
Senter syndrome	Xeroderma	1	0	GJB2 (1)	0.16667	0.50000	5.195e-4	1.041e-3	68
Colorectal cancer susceptibility	Xfe progeroid syndrome	1	1	POLE (3)	0.16667	0.50000	5.195e-4	1.041e-3	
Cerebral microangiopathy	Malignant triton tumor	1	1	HTRA1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Micropenis	Yunis-varon syndrome	1	1	FIG4 (5)	0.16667	0.50000	5.195e-4	1.041e-3	311
Mitochondrial myopathy with sideroblastic anemia	Periodic paralysis	1	0	ATP6 (1)	0.16667	0.50000	5.195e-4	1.041e-3	105
Mulibrey nanism	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	1	0	PNPLA7 (1)	0.16667	0.50000	5.195e-4	1.041e-3	122
Hemimelia of limb	Multiple synostoses syndrome	1	1	NOG (4)	0.16667	0.50000	5.195e-4	1.041e-3	
Nephrotic syndrome, idiopathic, steroid-resistant	Nephrotic syndrome, steroid-resistant, autosomal recessive	1	1	NPHS2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Dystonia, dopa-responsive, with or without hyperphenylalaninemia	Hyperkalemia	1	1	INS (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Encephalopathy due to mitochondrial and peroxisomal fission defect	Mitochondrial myopathy with sideroblastic anemia	1	1	DNM1L (3)	0.16667	0.50000	5.195e-4	1.041e-3	105
Endocrine neoplasms	Nephrotic syndrome, steroid-resistant, autosomal recessive	1	1	AXDND1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Esophageal varices	Sweat gland disease	1	1	SST (2)	0.16667	0.50000	5.195e-4	1.041e-3	340
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Liddle syndrome	1	1	SCNN1B (6)	0.16667	0.50000	5.195e-4	1.041e-3	
Cenani-lenz syndrome	Gastrointestinal neoplasms	1	1	APC (3)	0.16667	0.50000	5.195e-4	1.041e-3	37
Glycoprotein ia deficiency	Thrombasthenia	1	0	ITGA2 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Gorlin syndrome	Tessier facial cleft	1	1	PTCH2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	25
Greither disease	Hallermanns syndrome	1	0	GJA1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	107
Greither disease	Schwartz-lelek syndrome	1	0	GJA1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Anti-glomerular basement membrane disease	Haploinsufficiency	1	0	CTLA4 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Craniopharyngioma	Hepatoblastoma	1	1	CTNNB1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	81
Horizontal gaze palsy with progressive scoliosis	Mirror movements	1	1	DCC (6)	0.16667	0.50000	5.195e-4	1.041e-3	430
Hypercapnia	Urination disorders	1	1	NPPA (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Hyperexplexia hereditary	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	1	1	GPHN (2)	0.16667	0.50000	5.195e-4	1.041e-3	322
Cortical dysplasia	Intellectual developmental disorder autism speech	1	1	TBR1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	220
Alport syndrome	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome	1	1	COL4A3 (6)	0.16667	0.50000	5.195e-4	1.041e-3	91
Alport syndrome, x-linked	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome	1	1	COL4A3 (2)	0.16667	0.50000	5.195e-4	1.041e-3	91
Interleukin 1 receptor antagonist deficiency	Multifocal osteomyelitis	1	0	IL1RN (1)	0.16667	0.50000	5.195e-4	1.041e-3	219
Iron-refractory iron deficiency anemia	Microcytic anemia	1	1	TMPRSS6 (4)	0.16667	0.50000	5.195e-4	1.041e-3	
Jervell and lange-nielsen syndrome	Paroxysmal atrial fibrillation	1	1	KCNQ1 (7)	0.16667	0.50000	5.195e-4	1.041e-3	
Jervell and lange-nielsen syndrome	Polymorphic ventricular tachycardia	1	1	KCNQ1 (7)	0.16667	0.50000	5.195e-4	1.041e-3	
Arteriovenous hemangioma	juvenile polyposis syndrome	1	1	ENG (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Juvenile hyperuricemic nephropathy	Liddle syndrome	1	1	REN (5)	0.16667	0.50000	5.195e-4	1.041e-3	70
Epilepsy with auditory features	lissencephaly with cerebellar hypoplasia	1	1	RELN (3)	0.16667	0.50000	5.195e-4	1.041e-3	209
Lateral temporal lobe epilepsy	lissencephaly with cerebellar hypoplasia	1	1	RELN (2)	0.16667	0.50000	5.195e-4	1.041e-3	209
Male breast neoplasms	Osteogenic sarcoma	1	1	CHEK2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Cerebral microangiopathy	Malignant peripheral nerve sheath tumor	1	1	HTRA1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Basal cell nevus syndrome	nevoid basal cell carcinoma syndrome	1	1	PTCH1 (4)	0.16667	0.50000	5.195e-4	1.041e-3	
nevoid basal cell carcinoma syndrome	Rieger syndrome	1	1	PTCH1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Bladder cancer	Osteogenic sarcoma	1	0	RB1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Optic nerve disorder	Overactive bladder	1	1	EDN1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Aniridia-cerebellar ataxia-intellectual disability syndrome	Paranoid schizophrenia	1	1	PAX6 (3)	0.16667	0.50000	5.195e-4	1.041e-3	
Congenital aniridia	Paranoid schizophrenia	1	1	PAX6 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Optic nerve disorder	Paranoid schizophrenia	1	0	PAX6 (1)	0.16667	0.50000	5.195e-4	1.041e-3	25
Choroidal dystrophy	Patterned macular dystrophy	1	1	PRPH2 (5)	0.16667	0.50000	5.195e-4	1.041e-3	
Peroxisomal disorder	Refsum disease	1	1	PHYH (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Bifunctional enzyme deficiency	Peroxisomal disorder	1	1	HSD17B4 (4)	0.16667	0.50000	5.195e-4	1.041e-3	
Digenic hemochromatosis	Polymyalgia rheumatica	1	1	HFE (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Polymyalgia rheumatica	Variegate porphyria	1	0	HFE (1)	0.16667	0.50000	5.195e-4	1.041e-3	251
Digenic hemochromatosis	Porphyruria	1	1	HFE (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Bestrophinopathy	Retinitis pigmentosa, digenic	1	0	PRPH2 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Doyne honeycomb retinal dystrophy	Retinitis pigmentosa, digenic	1	0	PRPH2 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Ritscher-schinzler syndrome	Stress urinary incontinence	1	1	WASHC5 (6)	0.16667	0.50000	5.195e-4	1.041e-3	
Benign epithelial tumor of salivary glands	Salivary gland disease	1	1	PLAG1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	
Paroxysmal dystonic choreoathetosis	Seizures, tonic-clonic, photosensitive	1	1	KCNJ10 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Sjogren-larsson syndrome	Weber-cockayne syndrome	1	0	KRT14 (1)	0.16667	0.50000	5.195e-4	1.041e-3	270
Smith-lemli-opitz syndrome	Syndactyly of the toes	1	1	DHCR7 (7)	0.16667	0.50000	5.195e-4	1.041e-3	
Spectrum and myeloid neoplasm risk	Tumoral calcinosis	1	1	SAMD9 (5)	0.16667	0.50000	5.195e-4	1.041e-3	
Liddle syndrome	Tonne-kalscheuer syndrome	1	1	REN (2)	0.16667	0.50000	5.195e-4	1.041e-3	70
Beta-mannosidosis	Usher syndrome type 2	1	1	ADGRV1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	199
Beta-mannosidosis	Combined saposin deficiency	1	0	CDH23 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Beta-mannosidosis	Pituitary adenoma	1	1	CDH23 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Bifunctional enzyme deficiency	De toni-debre-fanconi syndrome	1	1	EHHADH (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Bifunctional enzyme deficiency	Fanconi renotubular syndrome	1	1	EHHADH (6)	0.16667	0.50000	5.195e-4	1.041e-3	
Birk-barel syndrome	Mulibrey nanism	1	0	TRPM3 (1)	0.16667	0.50000	5.195e-4	1.041e-3	122
Bladder neck obstruction	Uterine cancer	1	1	CYP19A1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Bladder neck obstruction	Pericardial effusion	1	1	PTGS2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	215
Blast crisis	Hyper-immunoglobulin m syndrome	1	1	AICDA (2)	0.16667	0.50000	5.195e-4	1.041e-3	266
Bloom syndrome	Hyper-immunoglobulin m syndrome	1	1	UNG (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Bone mineral density quantitative trait locus	Camurati-engelmann syndrome	1	1	LRP5 (3)	0.16667	0.50000	5.195e-4	1.041e-3	123
Bronchiolitis	Diffuse panbronchiolitis	1	1	MUC5B (2)	0.16667	0.50000	5.195e-4	1.041e-3	163
Capillary leak syndrome	Coronary vasospasm	1	1	PON1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	326
Carcinoid tumor	Lymphatic system disease	1	0	SLC12A2 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Autoimmune pancreatitis	Churg-strauss syndrome	1	1	HLA-DQB1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	1
Churg-strauss syndrome	Tongue cancer	1	0	HLA-DQB1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	1
Clear cell papillary renal cell carcinoma	Hepatic adenoma	1	1	HNF1A (5)	0.16667	0.50000	5.195e-4	1.041e-3	
Clear cell papillary renal cell carcinoma	Insulin resistant diabetes mellitus	1	1	HNF1A (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Colorectal cancer susceptibility	non-severe combined immunodeficiency due to polymerase delta deficiency	1	1	POLD1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	356
Anaplastic astrocytoma	Combined d-2- and l-2-hydroxyglutaric aciduria	1	1	IDH2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Anaplastic oligodendroglioma	Combined d-2- and l-2-hydroxyglutaric aciduria	1	1	IDH2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Neural tube defects, folate-sensitive	1	1	MTHFD1 (5)	0.16667	0.50000	5.195e-4	1.041e-3	
complex neurodevelopmental disorder with or without congenital anomalies	Developmental delay with or without intellectual or behavioral abnormalities	1	1	TRRAP (5)	0.16667	0.50000	5.195e-4	1.041e-3	
Anisometropia	Concussion	1	1	PTEN (3)	0.16667	0.50000	5.195e-4	1.041e-3	317
Concussion	Lipomatosis	1	1	PTEN (3)	0.16667	0.50000	5.195e-4	1.041e-3	317
Apolipoprotein b hypobetalipoproteinemia	Autoimmune pancreatitis	1	1	HLA-DQB1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	1
Apolipoprotein b hypobetalipoproteinemia	Tongue cancer	1	0	HLA-DQB1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	1
Arginine vasopressin resistance	Diabetes insipidus	1	1	AQP2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Arteritis	Capillary leak syndrome	1	1	PON1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Arteritis	Congenital thrombotic thrombocytopenic purpura	1	1	PROC (2)	0.16667	0.50000	5.195e-4	1.041e-3	325
Arthralgia	Hyper-immunoglobulin d syndrome	1	1	MVK (4)	0.16667	0.50000	5.195e-4	1.041e-3	327
Auriculocondylar syndrome	Optic nerve disorder	1	1	EDN1 (7)	0.16667	0.50000	5.195e-4	1.041e-3	25
Autoinflammation with infantile enterocolitis	Cryopyrin-associated periodic syndrome	1	1	NLRC4 (3)	0.16667	0.50000	5.195e-4	1.041e-3	
autosomal recessive primary microcephaly	Corpus callosum agenesis	1	1	CDK5RAP2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
autosomal recessive primary microcephaly	Urethral syndrome	1	1	CDK5RAP2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Basal cell nevus syndrome	Bifid nose	1	1	GLI2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	169
Basal cell nevus syndrome	Cleft face	1	1	GLI2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	169
Becker generalized myotonia	Smith-lemli-opitz syndrome	1	0	CLCN1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Anaplastic astrocytoma	D-2-hydroxyglutaric aciduria	1	1	IDH2 (5)	0.16667	0.50000	5.195e-4	1.041e-3	
Anaplastic oligodendroglioma	D-2-hydroxyglutaric aciduria	1	1	IDH2 (5)	0.16667	0.50000	5.195e-4	1.041e-3	
Congenital hypothyroidism due to absence of thyroid gland	Deletion 5q35 syndrome	1	1	NKX2-5 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Deoxyguanosine kinase deficiency	Interferonopathy	1	1	SAMHD1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	
Developmental delay with language impairment and movement disorder	Dopa-responsive dystonia	1	1	NR4A2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Alport syndrome	Diffuse mesangial sclerosis	1	1	COL4A4 (6)	0.16667	0.50000	5.195e-4	1.041e-3	91
Alport syndrome, x-linked	Diffuse mesangial sclerosis	1	1	COL4A4 (2)	0.16667	0.50000	5.195e-4	1.041e-3	91
Diffuse palmoplantar keratoderma	Keratosis palmoplantaris striata	1	1	DSG1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	
Diffuse panbronchiolitis	Extrinsic allergic alveolitis	1	1	MUC5B (2)	0.16667	0.50000	5.195e-4	1.041e-3	163
Dna repair-deficiency disorders	Werner syndrome	1	1	WRN (7)	0.16667	0.50000	5.195e-4	1.041e-3	
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	Kidney and ureter calculus	1	0	SLC34A1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
De toni-debre-fanconi syndrome	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	1	0	SLC34A1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	Fanconi renotubular syndrome	1	1	SLC34A1 (5)	0.16667	0.50000	5.195e-4	1.041e-3	
Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Kidney and ureter calculus	1	1	SLC34A1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	
De toni-debre-fanconi syndrome	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	1	1	SLC34A1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	
Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Fanconi renotubular syndrome	1	1	SLC34A1 (7)	0.16667	0.50000	5.195e-4	1.041e-3	
17q11 microdeletion syndrome	Middle aortic syndrome	1	1	NF1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	71
22q13 monosomy syndrome	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	1	1	INS (2)	0.16667	0.50000	5.195e-4	1.041e-3	
22q13.3 deletion syndrome	X-linked diffuse leiomyomatosis with alport syndrome	1	0	COL4A5 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
22q13.3 deletion syndrome	Hyperkalemia	1	1	INS (2)	0.16667	0.50000	5.195e-4	1.041e-3	224
Acrofacial dysostosis	Burn-mckeown syndrome	1	1	POLR1A (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Amed syndrome	Cardiac injury	1	1	ALDH2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Anauxetic dysplasia	Cartilage-hair hypoplasia	1	0	CCDC107 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Androgen insensitivity syndrome	Male breast neoplasms	1	1	AR (7)	0.16667	0.50000	5.195e-4	1.041e-3	204
Angiomatoid fibrous histiocytoma	Extraskeletal ewing sarcoma	1	0	EWSR1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Anti-glomerular basement membrane disease	Thromboangiitis obliterans	1	0	HLA-DRB1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	254
Antisocial personality disorder	Familial mediterranean fever	1	0	ABCB1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	120
Aortic atherosclerosis	Combined molybdoflavoprotein enzyme deficiency	1	1	DAAM2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Congenital keratoglobus	Primary congenital glaucoma	1	0	LTBP2 (1)	0.16667	0.50000	5.195e-4	1.041e-3	
Congenital keratoglobus	Weill-marchesani syndrome	1	1	LTBP2 (6)	0.16667	0.50000	5.195e-4	1.041e-3	
Congenital mirror movements	Horizontal gaze palsy with progressive scoliosis	1	1	DCC (3)	0.16667	0.50000	5.195e-4	1.041e-3	430
Coronary vasospasm	Renovascular hypertension	1	1	NOS3 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Cortical dysplasia	Cortical occipital malformations	1	0	TBR1 (1)	0.16667	0.50000	5.195e-4	1.041e-3	220
Cortical dysplasia	Developmental delay with language impairment and movement disorder	1	1	TBR1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	220
Craniofrontonasal dysplasia	X-linked hypohidrotic ectodermal dysplasia	1	1	EDA (3)	0.16667	0.50000	5.195e-4	1.041e-3	76
Cri-du-chat syndrome	Macrocytic anemia	1	1	TERT (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Cardiac injury	Cholesterol embolism	1	1	PLAU (2)	0.16667	0.50000	5.195e-4	1.041e-3	29
Cardiac injury	Intracranial embolism and thrombosis	1	1	PLAU (2)	0.16667	0.50000	5.195e-4	1.041e-3	29
Cataract-glaucoma syndrome	Mulibrey nanism	1	1	TRPM3 (2)	0.16667	0.50000	5.195e-4	1.041e-3	122
Catel-manzke syndrome	Vertebral, cardiac, renal, and limb defects syndrome	1	1	KYNU (5)	0.16667	0.50000	5.195e-4	1.041e-3	421
Bile duct calculus	Cavitary optic disk anomaly	1	0	APOE (1)	0.16667	0.50000	5.195e-4	1.041e-3	125
Cecal neoplasms	Craniopharyngioma	1	1	CTNNB1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	81
Cecal neoplasms	Osteopathia striata with cranial sclerosis	1	1	CTNNB1 (3)	0.16667	0.50000	5.195e-4	1.041e-3	81
Cecal neoplasms	Vascular calcification	1	1	CTNNB1 (2)	0.16667	0.50000	5.195e-4	1.041e-3	81
Central nervous system demyelinating disease	Deafness enamel hypoplasia nail defects	1	1	PEX6 (2)	0.16667	0.50000	5.195e-4	1.041e-3	141
Central nervous system demyelinating disease	Deafness-enamel hypoplasia-nail defects syndrome	1	1	PEX6 (2)	0.16667	0.50000	5.195e-4	1.041e-3	141
Cerebral cortical atrophy	Childhood-onset spinal muscular atrophy	1	1	BICD2 (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Cerebral cortical atrophy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	1	1	TYROBP (5)	0.16667	0.50000	5.195e-4	1.041e-3	348
Camptocormia	Chronic progressive external ophthalmoplegia	1	1	RRM2B (2)	0.16667	0.50000	5.195e-4	1.041e-3	
Cataplexy	Niemann-pick disease	1	1	NPC1 (8)	0.11111	1.00000	5.195e-4	1.041e-3	231
Central hypothyroidism	Congenital nystagmus	1	0	ROBO1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Cavernous malformations of cns	cerebral cavernous malformation 2	1	1	CCM2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	249
Charcot-Marie-Tooth disease type 4B3	Charcot-marie-tooth disease, x-linked	1	1	SBF1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	13
Charcot-Marie-Tooth disease X-linked dominant 1	Charcot-marie-tooth disease, x-linked	1	1	GJB1 (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Charcot-Marie-Tooth disease X-linked dominant 6	Charcot-marie-tooth disease, x-linked	1	1	PDK3 (6)	0.11111	1.00000	5.195e-4	1.041e-3	13
Childhood-onset sensorineural hearing impairment	Xx gonadal dysgenesis syndrome	1	0	PRORP (1)	0.11111	1.00000	5.195e-4	1.041e-3	353
Cholesterol ester storage disease	Niemann-pick disease	1	1	LIPA (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Choroid diseases	Occupational dermatitis	1	1	IL10 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Choroidal neovascularization	Urologic neoplasms	1	0	VEGFA (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Chromosomal instability	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	1	1	KIF11 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Chromosome 16p13.3 deletion syndrome	Rubinstein-taybi syndrome	1	1	CREBBP (7)	0.11111	1.00000	5.195e-4	1.041e-3	195
Chromosome 22q11.2 deletion syndrome	Hyperammonemia	1	0	ABCA3 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Arginase deficiency	Urea cycle disorder	1	1	ARG1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Argininosuccinic aciduria	Urea cycle disorder	1	1	ASL (7)	0.11111	1.00000	5.195e-4	1.041e-3	202
Arhinia-choanal atresia-microphthalmia syndrome	Facial nerve disorder	1	1	SMCHD1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
arhinia, choanal atresia, and microphthalmia	Facial nerve disorder	1	1	SMCHD1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome	Rhabdomyolysis	1	1	ANO5 (2)	0.11111	1.00000	5.195e-4	1.041e-3	191
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect	Charcot-marie-tooth disease, x-linked	1	0	SACS (1)	0.11111	1.00000	5.195e-4	1.041e-3	
ATF6-related retinopathy	Congenital nystagmus	1	1	ATF6 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
ATM-related cancer predisposition	B-cell chronic lymphocytic leukemia	1	1	ATM (2)	0.11111	1.00000	5.195e-4	1.041e-3	
atypical hemolytic-uremic syndrome with B factor anomaly	C3 glomerulonephritis	1	1	CFB (3)	0.11111	1.00000	5.195e-4	1.041e-3	32
atypical hemolytic-uremic syndrome with B factor anomaly	Mesangiocapillary glomerulonephritis	1	1	CFB (2)	0.11111	1.00000	5.195e-4	1.041e-3	32
atypical hemolytic-uremic syndrome with C3 anomaly	C3 glomerulonephritis	1	1	C3 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
atypical hemolytic-uremic syndrome with C3 anomaly	Mesangiocapillary glomerulonephritis	1	1	C3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
atypical hemolytic-uremic syndrome with DGKE deficiency	Mesangiocapillary glomerulonephritis	1	1	DGKE (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Auricle malformation	Branchial arch abnormalities syndrome	1	1	KMT2D (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Auricle malformation	Branchial cleft anomalies	1	0	KMT2D (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Auricle malformation	kabuki syndrome 1	1	1	KMT2D (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Autoinflammation with arthritis and vasculitis	Frontotemporal dementia with motor neuron disease	1	1	TBK1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Autoinflammation, panniculitis, and dermatosis syndrome	Calcium metabolism disorders	1	1	OTULIN (5)	0.11111	1.00000	5.195e-4	1.041e-3	208
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	Calcium metabolism disorders	1	1	OTULIN (2)	0.11111	1.00000	5.195e-4	1.041e-3	208
autosomal dominant osteopetrosis 2	Osteosclerosis	1	1	CLCN7 (2)	0.11111	1.00000	5.195e-4	1.041e-3	265
autosomal dominant Robinow syndrome	Robinow syndrome	1	1	WNT5A (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Accessory skin tag	autosomal recessive cutis laxa type 2A	1	1	ATP6V0A2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Accessory skin tag	autosomal recessive cutis laxa type 2B	1	1	PYCR1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	94
Accessory skin tag	autosomal recessive cutis laxa type 2C	1	1	ATP6V1E1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	94
Accessory skin tag	autosomal recessive cutis laxa type 2D	1	1	ATP6V1A (2)	0.11111	1.00000	5.195e-4	1.041e-3	94
autosomal recessive osteopetrosis 1	Osteosclerosis	1	1	TCIRG1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
autosomal recessive osteopetrosis 2	Osteosclerosis	1	1	TNFSF11 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
autosomal recessive osteopetrosis 4	Osteosclerosis	1	1	CLCN7 (2)	0.11111	1.00000	5.195e-4	1.041e-3	265
Adrenocortical carcinoma	B-cell chronic lymphocytic leukemia	1	1	TP53 (2)	0.11111	1.00000	5.195e-4	1.041e-3	88
B-cell chronic lymphocytic leukemia	Choroid plexus carcinoma	1	1	TP53 (2)	0.11111	1.00000	5.195e-4	1.041e-3	88
B-cell chronic lymphocytic leukemia	Choroid plexus papilloma	1	1	TP53 (3)	0.11111	1.00000	5.195e-4	1.041e-3	88
BAP1-related tumor predisposition syndrome	Paraganglioma	1	1	BAP1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Bare lymphocyte syndrome	Beta2-microglobulinic amyloidosis	1	0	B2M (1)	0.11111	1.00000	5.195e-4	1.041e-3	128
Bare lymphocyte syndrome	Hypergammaglobulinemia	1	1	B2M (2)	0.11111	1.00000	5.195e-4	1.041e-3	128
Benign paroxysmal torticollis of infancy	Episodic ataxia	1	1	CACNA1A (6)	0.11111	1.00000	5.195e-4	1.041e-3	55
Beta-ureidopropionase deficiency	Cryptogenic west syndrome	1	1	UPB1 (6)	0.11111	1.00000	5.195e-4	1.041e-3	337
Bilateral parasagittal parieto-occipital polymicrogyria	Penile hypospadia	1	1	FIG4 (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Bisphosphoglycerate mutase deficiency	Secondary polycythemia	1	1	BPGM (3)	0.11111	1.00000	5.195e-4	1.041e-3	24
Blomstrand lethal chondrodysplasia	Metaphyseal chondrodysplasia	1	1	PTH1R (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Body mass index	Growth retardation, developmental delay, and facial dysmorphism	1	1	FTO (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Body mass index	Growth retardation, developmental delay, coarse facies, and early death	1	1	FTO (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Bohring-opitz syndrome	Rubinstein-taybi syndrome	1	1	ASXL1 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Bone marrow neoplasms	Mucositis	1	0	CSF3 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Bosma arhinia microphthalmia syndrome	Facial nerve disorder	1	1	SMCHD1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Brachydactyly-syndactyly syndrome	Penile hypospadia	1	1	HOXD13 (5)	0.11111	1.00000	5.195e-4	1.041e-3	111
Brachymesophalangy	Penile hypospadia	1	0	HOXD13 (1)	0.11111	1.00000	5.195e-4	1.041e-3	111
Brown oculocutaneous albinism	Congenital nystagmus	1	0	OCA2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Brown oculocutaneous albinism	Prader-willi syndrome	1	1	OCA2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Camptosynpolydactyly	Split hand-foot malformation	1	1	BHLHA9 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
carbamoyl phosphate synthetase I deficiency disease	Urea cycle disorder	1	1	CPS1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	202
carbamoyl phosphate synthetase I deficiency disease	Hyperammonemia	1	1	CPS1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	202
Carcinoid syndrome	Paraganglioma	1	1	SDHD (4)	0.11111	1.00000	5.195e-4	1.041e-3	78
Carcinoid syndrome	Pheochromocytoma/paraganglioma syndrome	1	1	SDHD (4)	0.11111	1.00000	5.195e-4	1.041e-3	78
Citrin deficiency	Urea cycle disorder	1	1	SLC25A13 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
citrullinemia type I	Urea cycle disorder	1	1	ASS1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Cleft palate proliferative retinopathy developmental delay	Vitreoretinal degeneration	1	1	LRRC32 (3)	0.11111	1.00000	5.195e-4	1.041e-3	150
B-cell chronic lymphocytic leukemia	Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency	1	0	IKZF3 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Combined psap deficiency	Metachromatic leukodystrophy	1	1	PSAP (7)	0.11111	1.00000	5.195e-4	1.041e-3	114
Complement pathway abnormality	systemic lupus erythematosus related to C1QA	1	1	C1QA (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Complex cortical dysplasia with other brain malformations	complex cortical dysplasia with other brain malformations 2	1	1	KIF5C (3)	0.11111	1.00000	5.195e-4	1.041e-3	144
Complex partial epilepsy	Familial focal epilepsy with variable foci	1	1	SCN3A (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Complex regional pain syndrome	primary ciliary dyskinesia 28	1	1	SPAG1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital cataract anterior segment dysgenesis syndrome	Posterior polar cataract	1	1	PITX3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
B-cell chronic lymphocytic leukemia	Congenital chromosomal disease	1	1	POT1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital cleft hand	Rubinstein-taybi syndrome	1	0	DLX5 (1)	0.11111	1.00000	5.195e-4	1.041e-3	195
Congenital cleft hand	Split hand-foot malformation	1	1	DLX5 (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital digestive system anomaly	Congenital hypoplasia of kidney	1	0	RET (1)	0.11111	1.00000	5.195e-4	1.041e-3	161
Campomelic dysplasia	Congenital hand deformities	1	1	SOX9 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Camptomelic dysplasia	Congenital hand deformities	1	1	SOX9 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital hand deformities	Cooks syndrome	1	1	SOX9 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital hereditary facial paralysis with variable hearing loss syndrome	Facial nerve disorder	1	1	HOXB1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	101
Congenital hernia of foramen of bochdalek	Visual impairment	1	1	EFEMP1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	152
Congenital high-molecular-weight kininogen deficiency	Occupational dermatitis	1	1	KNG1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital hyperammonemia	Urea cycle disorder	1	0	CPS1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	202
Congenital hyperammonemia	Hyperammonemia	1	1	CPS1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	202
Congenital hypoplasia of kidney	Papillorenal syndrome	1	1	PAX2 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital hypoplasia of kidney	focal segmental glomerulosclerosis 7	1	1	PAX2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital hypoplasia of kidney	Medullary thyroid cancer	1	1	RET (2)	0.11111	1.00000	5.195e-4	1.041e-3	161
Congenital intrinsic factor deficiency	Pernicious anemia	1	1	CBLIF (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital isolated acth deficiency	Duodenitis	1	1	TBX19 (5)	0.11111	1.00000	5.195e-4	1.041e-3	1
Congenital myotonia	Metachromatic leukodystrophy	1	1	CLCN1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital nystagmus	Neurooculorenal syndrome	1	1	ROBO1 (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital nystagmus	Retinitis pigmentosa with choroidal involvement	1	1	RPE65 (4)	0.11111	1.00000	5.195e-4	1.041e-3	400
Congenital sensorineural hearing loss	Waardenburg syndrome type 2	1	1	MITF (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital sensorineural hearing loss	Deafness with congenital and adult-onset progressive leukodystrophy	1	1	KARS1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital sensorineural hearing loss	Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome	1	0	KARS1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital sensorineural hearing loss	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome	1	1	KARS1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenitally uncorrected transposition of the great arteries	Double outlet right ventricle	1	1	CFC1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	56
B-cell chronic lymphocytic leukemia	Conjunctival telangiectasis	1	1	ATM (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Continuous spike and wave during sleep syndrome	Pyridoxine dependent epilepsy	1	1	GRIN2A (2)	0.11111	1.00000	5.195e-4	1.041e-3	389
Corpus callosum agenesis with facial anomalies and robin sequence	X-linked syndromic intellectual disability	1	1	DDX3X (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Complex cortical dysplasia with other brain malformations	Cortical dysgenesis with pontocerebellar hypoplasia	1	1	TUBB3 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital hand deformities	Craniofacial deafness hand syndrome	1	1	PAX3 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Auricle malformation	Craniofaciocardiohepatic syndrome	1	1	AMOTL1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Cryptogenic west syndrome	Eye pain	1	1	POMC (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Cutaneous polyarteritis nodosa	Ruptured abdominal aortic aneurysm	1	0	SMAD3 (1)	0.11111	1.00000	5.195e-4	1.041e-3	64
Cutaneous polyarteritis nodosa	Ruptured aortic aneurysm	1	0	SMAD3 (1)	0.11111	1.00000	5.195e-4	1.041e-3	64
Cutaneous polyarteritis nodosa	Ruptured thoracic aortic aneurysm	1	0	SMAD3 (1)	0.11111	1.00000	5.195e-4	1.041e-3	64
Cutaneous polyarteritis nodosa	Thoracoabdominal aortic aneurysm	1	0	SMAD3 (1)	0.11111	1.00000	5.195e-4	1.041e-3	64
Accessory skin tag	cutis laxa, autosomal dominant 1	1	1	ELN (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Accessory skin tag	cutis laxa, autosomal recessive, type 1B	1	1	EFEMP2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
cutis laxa, autosomal recessive, type 1B	Ruptured abdominal aortic aneurysm	1	1	EFEMP2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	64
cutis laxa, autosomal recessive, type 1B	Ruptured aortic aneurysm	1	1	EFEMP2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	64
cutis laxa, autosomal recessive, type 1B	Ruptured thoracic aortic aneurysm	1	1	EFEMP2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	64
Cryptogenic west syndrome	D-bifunctional protein deficiency	1	1	HSD17B4 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
D-bifunctional protein deficiency	Xx gonadal dysgenesis syndrome	1	1	HSD17B4 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Accessory skin tag	De barsy syndrome	1	1	ALDH18A1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Developmental delay with autism spectrum disorder	Prader-willi syndrome	1	1	HERC2 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Auricle malformation	diamond-blackfan anemia 6	1	1	RPL5 (2)	0.11111	1.00000	5.195e-4	1.041e-3	240
Digestive system neoplasms	Dysferlinopathy	1	1	DYSF (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Digestive system neoplasms	H syndrome	1	1	SLC29A3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Digestive system neoplasms	Intracranial hypertension	1	1	SLC4A10 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Digestive system neoplasms	myoglobinuria, acute recurrent, autosomal recessive	1	1	LPIN1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Direct inguinal hernia	Ruptured abdominal aortic aneurysm	1	0	TGFBR2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Direct inguinal hernia	Ruptured aortic aneurysm	1	0	TGFBR2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Direct inguinal hernia	Ruptured thoracic aortic aneurysm	1	0	TGFBR2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Direct inguinal hernia	Thoracoabdominal aortic aneurysm	1	0	TGFBR2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Distal anoctaminopathy	Rhabdomyolysis	1	1	ANO5 (2)	0.11111	1.00000	5.195e-4	1.041e-3	191
Dkc1-related disorder	Hoyeraal hreidarsson syndrome	1	1	DKC1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Double outlet right ventricle	Interrupted aortic arch	1	0	NKX2-5 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Double outlet right ventricle	NKX2.5-related congenital, conduction and myopathic heart disease	1	1	NKX2-5 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
duane retraction syndrome 2	Robinow syndrome	1	1	CHN1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
3-methylglutaconic aciduria	3-methylglutaconic aciduria type 1	1	1	AUH (2)	0.11111	1.00000	5.195e-4	1.041e-3	
3-methylglutaconic aciduria	Costeff optic atrophy syndrome	1	1	OPA3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
3-methylglutaconic aciduria	optic atrophy 3	1	1	OPA3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
3-methylglutaconic aciduria	Dilated cardiomyopathy with ataxia	1	1	DNAJC19 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
3-methylglutaconic aciduria	3-methylglutaconic aciduria type 5	1	1	DNAJC19 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
3-methylglutaconic aciduria	3-methylglutaconic aciduria type 8	1	1	HTRA2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
3-methylglutaconic aciduria	3-methylglutaconic aciduria type 9	1	1	TIMM50 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Acatalasia	Turner syndrome	1	1	CAT (4)	0.11111	1.00000	5.195e-4	1.041e-3	294
ACD-related short telomere syndrome	Hoyeraal hreidarsson syndrome	1	1	ACD (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Acid sphingomyelinase deficiency	Niemann-pick disease	1	1	SMPD1 (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Acrokeratosis verruciformis	Rhabdomyolysis	1	1	ATP2A2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	191
ADAR-related type 1 interferonopathy	Aicardi goutieres syndrome	1	1	ADAR (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Aicardi goutieres syndrome	IFIH1-related type 1 interferonopathy	1	1	IFIH1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Alexander disease	Metachromatic leukodystrophy	1	1	GFAP (3)	0.11111	1.00000	5.195e-4	1.041e-3	114
amyloidosis, hereditary systemic 6	Bare lymphocyte syndrome	1	1	B2M (2)	0.11111	1.00000	5.195e-4	1.041e-3	128
amyotrophic lateral sclerosis type 1	Turner syndrome	1	1	SOD1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	294
amyotrophic lateral sclerosis type 10	Frontotemporal dementia with motor neuron disease	1	1	TARDBP (4)	0.11111	1.00000	5.195e-4	1.041e-3	
amyotrophic lateral sclerosis type 11	Penile hypospadia	1	1	FIG4 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
amyotrophic lateral sclerosis type 23	Connective tissue neoplasm	1	1	ANXA11 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
amyotrophic lateral sclerosis type 6	Frontotemporal dementia with motor neuron disease	1	1	FUS (2)	0.11111	1.00000	5.195e-4	1.041e-3	119
amyotrophic lateral sclerosis type 6	Liposarcoma	1	1	FUS (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Penile hypospadia	Schinzel-Giedion syndrome	1	1	SETBP1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Metaphyseal chondrodysplasia	Schmid metaphyseal chondrodysplasia	1	1	COL10A1 (6)	0.11111	1.00000	5.195e-4	1.041e-3	28
Hoyeraal hreidarsson syndrome	Short telomere syndrome	1	1	ACD (3)	0.11111	1.00000	5.195e-4	1.041e-3	
snowflake vitreoretinal degeneration	Vitreoretinal degeneration	1	1	KCNJ13 (2)	0.11111	1.00000	5.195e-4	1.041e-3	150
Charcot-marie-tooth disease, x-linked	Spastic ataxia of charlevoix-saguenay	1	1	SACS (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Spermatogenic failure, x-linked	spermatogenic failure, x-linked, 3	1	1	CFAP47 (5)	0.11111	1.00000	5.195e-4	1.041e-3	11
Acro-dermo-ungual-lacrimal-tooth syndrome	Split hand-foot malformation	1	1	TP63 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Ankyloblepharon-ectodermal defects-cleft lip/palate	Split hand-foot malformation	1	1	TP63 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Limb-mammary syndrome	Split hand-foot malformation	1	1	TP63 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Rudiger syndrome	Split hand-foot malformation	1	1	TP63 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
dyskeratosis congenita, autosomal dominant 2	Telomere-related pulmonary fibrosis and/or bone marrow failure	1	1	TERT (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital nystagmus	Temperature-sensitive oculocutaneous albinism	1	1	TYR (3)	0.11111	1.00000	5.195e-4	1.041e-3	
46,xy partial gonadal dysgenesis	Testicular regression syndrome	1	1	DHX37 (2)	0.11111	1.00000	5.195e-4	1.041e-3	149
Congenital hand deformities	TFAP2B-related congenital heart disease spectrum disorder	1	1	TFAP2B (2)	0.11111	1.00000	5.195e-4	1.041e-3	
hereditary nonpolyposis colon cancer	thrombocytopenia 10	1	0	PTPRJ (1)	0.11111	1.00000	5.195e-4	1.041e-3	261
Hydrops with lactic acidosis and sideroblastic anemia	Xx gonadal dysgenesis syndrome	1	1	LARS2 (5)	0.11111	1.00000	5.195e-4	1.041e-3	353
hyper-IgM syndrome type 3	Pemphigus	1	1	CD40 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Hyperammonemia	systemic lupus erythematosus, susceptibility to, 1	1	1	TLR5 (3)	0.11111	1.00000	5.195e-4	1.041e-3	202
Hyperammonemia	hyperammonemia due to N-acetylglutamate synthase deficiency	1	1	NAGS (6)	0.11111	1.00000	5.195e-4	1.041e-3	202
hyperammonemia due to N-acetylglutamate synthase deficiency	Urea cycle disorder	1	1	NAGS (2)	0.11111	1.00000	5.195e-4	1.041e-3	202
Hyperesthesia	Occupational dermatitis	1	1	KNG1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Hyperammonemia	Hyperinsulinism-hyperammonemia syndrome	1	1	GLUD1 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
hypopigmentation, organomegaly, and delayed myelination and development	Osteosclerosis	1	1	CLCN7 (2)	0.11111	1.00000	5.195e-4	1.041e-3	265
Bare lymphocyte syndrome	hypoproteinemia, hypercatabolic	1	1	B2M (2)	0.11111	1.00000	5.195e-4	1.041e-3	128
IL10-related early-onset inflammatory bowel disease	Occupational dermatitis	1	1	IL10 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Occupational dermatitis	1	1	FOXP3 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
B-cell chronic lymphocytic leukemia	immunodeficiency 84	1	1	IKZF3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Cerebral embolism	Infertility	1	1	KL (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Infertility	Intracranial embolism	1	1	KL (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Infertility	spermatogenic failure 5	1	1	AURKC (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Intellectual developmental disorder expressive speech dysmorphic	Penile hypospadia	1	1	SETBP1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Intellectual developmental disorder microcephaly cerebellar	X-linked syndromic intellectual disability	1	1	CASK (2)	0.11111	1.00000	5.195e-4	1.041e-3	329
dyskeratosis congenita and related telomere biology disorder	Telomere-related pulmonary fibrosis and/or bone marrow failure	1	1	RPA1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	77
dyskeratosis congenita, autosomal dominant 3	Hoyeraal hreidarsson syndrome	1	1	TINF2 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
dyskeratosis congenita, x-linked	Hoyeraal hreidarsson syndrome	1	1	DKC1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
dysosteosclerosis	Osteosclerosis	1	1	TCIRG1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition	Secondary polycythemia	1	1	EGLN1 (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Eiken skeletal dysplasia	Metaphyseal chondrodysplasia	1	1	PTH1R (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Capillary malformation-arteriovenous malformation	EPHB4-associated vascular malformation spectrum	1	1	EPHB4 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Episodic ataxia	episodic ataxia type 6	1	1	SLC1A3 (7)	0.11111	1.00000	5.195e-4	1.041e-3	55
Episodic ataxia	Hereditary continuous muscle fiber activity	1	1	KCNA1 (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Episodic ataxia	episodic ataxia type 1	1	1	KCNA1 (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Eye pain	Facial nerve disorder	1	1	POMC (2)	0.11111	1.00000	5.195e-4	1.041e-3	101
Facial nerve disorder	Rhabdomyoma	1	1	POMC (2)	0.11111	1.00000	5.195e-4	1.041e-3	101
Facial nerve disorder	Sacroiliitis	1	1	POMC (2)	0.11111	1.00000	5.195e-4	1.041e-3	101
C3 glomerulonephritis	Factor i deficiency	1	1	CFI (4)	0.11111	1.00000	5.195e-4	1.041e-3	32
Factor i deficiency	Mesangiocapillary glomerulonephritis	1	0	CFI (1)	0.11111	1.00000	5.195e-4	1.041e-3	32
Familial focal epilepsy with variable foci	Trident hand	1	0	NPR2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Dravet syndrome	familial hemiplegic migraine	1	1	SCN1A (4)	0.11111	1.00000	5.195e-4	1.041e-3	
familial hemophagocytic lymphohistiocytosis 2	Hemophagocytic lymphohistiocytosis	1	1	PRF1 (7)	0.11111	1.00000	5.195e-4	1.041e-3	96
familial hemophagocytic lymphohistiocytosis 3	Hemophagocytic lymphohistiocytosis	1	1	UNC13D (7)	0.11111	1.00000	5.195e-4	1.041e-3	96
familial hemophagocytic lymphohistiocytosis 4	Hemophagocytic lymphohistiocytosis	1	1	STX11 (6)	0.11111	1.00000	5.195e-4	1.041e-3	96
familial hemophagocytic lymphohistiocytosis 5	Hemophagocytic lymphohistiocytosis	1	1	STXBP2 (7)	0.11111	1.00000	5.195e-4	1.041e-3	96
Familial telangiectasia cancer syndrome	Urologic neoplasms	1	1	ATR (2)	0.11111	1.00000	5.195e-4	1.041e-3	88
Double outlet right ventricle	Feingold syndrome type 1	1	1	MYCN (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Dravet syndrome	Female restricted epilepsy with intellectual disability	1	1	PCDH19 (3)	0.11111	1.00000	5.195e-4	1.041e-3	228
Focal epilepsy with speech disorder and impaired intellectual development	Pyridoxine dependent epilepsy	1	1	GRIN2A (3)	0.11111	1.00000	5.195e-4	1.041e-3	389
Calcium metabolism disorders	focal segmental glomerulosclerosis 4, susceptibility to	1	1	APOL1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis	Frontotemporal dementia with motor neuron disease	1	1	GRN (2)	0.11111	1.00000	5.195e-4	1.041e-3	119
frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Frontotemporal dementia with motor neuron disease	1	1	C9orf72 (4)	0.11111	1.00000	5.195e-4	1.041e-3	119
frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Frontotemporal dementia with motor neuron disease	1	1	CHCHD10 (3)	0.11111	1.00000	5.195e-4	1.041e-3	119
TSPAN12-related exudative vitreoretinopathy	Vitreoretinal degeneration	1	1	TSPAN12 (2)	0.11111	1.00000	5.195e-4	1.041e-3	150
Complex cortical dysplasia with other brain malformations	TUBB3-related tubulinopathy	1	1	TUBB3 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
B-cell chronic lymphocytic leukemia	tumor predisposition syndrome 3	1	1	POT1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Calcium metabolism disorders	tumoral calcinosis, hyperphosphatemic, familial, 1	1	1	GALNT3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Esophageal stenosis	Turner syndrome	1	1	SOD2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Adrenocortical carcinoma	Urologic neoplasms	1	1	TP53 (2)	0.11111	1.00000	5.195e-4	1.041e-3	88
Choroid plexus carcinoma	Urologic neoplasms	1	1	TP53 (3)	0.11111	1.00000	5.195e-4	1.041e-3	88
Choroid plexus papilloma	Urologic neoplasms	1	1	TP53 (3)	0.11111	1.00000	5.195e-4	1.041e-3	88
Atrophic retina	Vitreoretinal degeneration	1	0	ABCA4 (1)	0.11111	1.00000	5.195e-4	1.041e-3	150
ABCA4-related retinopathy	Vitreoretinal degeneration	1	1	ABCA4 (2)	0.11111	1.00000	5.195e-4	1.041e-3	150
Rubinstein-taybi syndrome	Waardenburg anophthalmia syndrome	1	0	SMOC1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	195
Vitreoretinal degeneration	Wagner disease	1	1	VCAN (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Vitreoretinal degeneration	Wagner syndrome	1	1	VCAN (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Wieacker syndrome	X-linked syndromic intellectual disability	1	1	ZC4H2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Wieacker-wolff syndrome	X-linked syndromic intellectual disability	1	1	ZC4H2 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Niemann-pick disease	Wolman disease	1	1	LIPA (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Accessory skin tag	Wrinkly skin syndrome	1	1	ATP6V0A2 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	X-linked syndromic intellectual disability	1	1	USP9X (4)	0.11111	1.00000	5.195e-4	1.041e-3	329
Charcot-marie-tooth disease, x-linked	X-linked hereditary motor and sensory neuropathy	1	0	DRP2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	13
Charcot-marie-tooth disease, x-linked	X-linked hereditary sensory and autonomic neuropathy with deafness	1	1	AIFM1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Charcot-marie-tooth disease, x-linked	X-linked hereditary sensory and autonomic neuropathy with hearing loss	1	1	AIFM1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
X-linked myopathy with excessive autophagy	X-linked syndromic intellectual disability	1	1	RPL10 (4)	0.11111	1.00000	5.195e-4	1.041e-3	329
Penile hypospadia	Zygodactyly	1	1	HOXD13 (2)	0.11111	1.00000	5.195e-4	1.041e-3	111
Double outlet right ventricle	megalencephaly-polydactyly syndrome	1	1	MYCN (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Liposarcoma	melanoma, cutaneous malignant, susceptibility to, 3	1	1	CDK4 (3)	0.11111	1.00000	5.195e-4	1.041e-3	361
membranoproliferative glomerulonephritis	Mesangiocapillary glomerulonephritis	1	1	DGKE (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Metachromatic leukodystrophy	metachromatic leukodystrophy due to saposin B deficiency	1	1	PSAP (5)	0.11111	1.00000	5.195e-4	1.041e-3	114
Metaphyseal chondrodysplasia	SF3B4-related acrofacial dysostosis	1	1	SF3B4 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital pectus carinatum	Metaphyseal chondrodysplasia	1	0	FBN1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	28
Coronary artery dissection	Metaphyseal chondrodysplasia	1	0	FBN1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	28
Metaphyseal chondrodysplasia	Metaphyseal enchondromatosis	1	1	IDH1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
microcephaly, seizures, and developmental delay	Pyridoxine dependent epilepsy	1	1	PNKP (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Middle ear cholesteatoma	Pemphigus	1	0	IL2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Miles-carpenter syndrome	X-linked syndromic intellectual disability	1	1	ZC4H2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Mucoepidermoid carcinoma	Paraganglioma	1	0	BAP1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Metachromatic leukodystrophy	mucopolysaccharidosis type 6	1	1	ARSB (2)	0.11111	1.00000	5.195e-4	1.041e-3	114
Choroid diseases	Mucositis	1	1	IL10 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
IL10-related early-onset inflammatory bowel disease	Mucositis	1	1	IL10 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital hypoplasia of kidney	multiple endocrine neoplasia type 2A	1	1	RET (2)	0.11111	1.00000	5.195e-4	1.041e-3	161
Congenital hypoplasia of kidney	multiple endocrine neoplasia type 2B	1	1	RET (2)	0.11111	1.00000	5.195e-4	1.041e-3	161
hereditary nonpolyposis colon cancer	multiple endocrine neoplasia type 4	1	0	CDKN1B (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Myeloproliferative disease, unclassifiable	Primary familial brain calcification	1	1	PDGFRB (2)	0.11111	1.00000	5.195e-4	1.041e-3	
myopathy caused by variation in POMT1	Pyridoxine dependent epilepsy	1	1	POMT1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
myopathy, centronuclear, 6, with fiber-type disproportion	Split hand-foot malformation	1	1	MAP3K20 (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Metachromatic leukodystrophy	Myotonia congenita	1	1	CLCN1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Frontotemporal dementia with motor neuron disease	1	1	SQSTM1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Frontotemporal dementia with motor neuron disease	1	1	TBK1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Frontotemporal dementia with motor neuron disease	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	1	1	VCP (4)	0.11111	1.00000	5.195e-4	1.041e-3	119
Double outlet right ventricle	Gallbladder agenesis	1	0	MYCN (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Gaucher disease due to saposin C deficiency	Metachromatic leukodystrophy	1	1	PSAP (5)	0.11111	1.00000	5.195e-4	1.041e-3	114
Genetic infertility	Infertility	1	1	SPATA22 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Genetic lipodystrophy	hereditary nonpolyposis colon cancer	1	1	EPHX1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Ghosal hematodiaphyseal dysplasia	Penile hypospadia	1	1	TBXAS1 (7)	0.11111	1.00000	5.195e-4	1.041e-3	111
gnathodiaphyseal dysplasia	Rhabdomyolysis	1	1	ANO5 (2)	0.11111	1.00000	5.195e-4	1.041e-3	191
Gollop-wolfgang complex	Split hand-foot malformation	1	1	BHLHA9 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
HAVCR2-related cancer predisposition	Hemophagocytic lymphohistiocytosis	1	1	HAVCR2 (3)	0.11111	1.00000	5.195e-4	1.041e-3	96
Hemoglobin high altitude adaptation	Secondary polycythemia	1	1	EGLN1 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
Hemophagocytic lymphohistiocytosis	Reducing body myopathy	1	1	FHL1 (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Hemophagocytic lymphohistiocytosis	hemophagocytic lymphohistiocytosis due to RhoG deficiency	1	1	RHOG (2)	0.11111	1.00000	5.195e-4	1.041e-3	96
Hereditary chronic pancreatitis	neonatal severe primary hyperparathyroidism	1	1	CASR (2)	0.11111	1.00000	5.195e-4	1.041e-3	210
familial hypocalciuric hypercalcemia 1	Hereditary chronic pancreatitis	1	1	CASR (2)	0.11111	1.00000	5.195e-4	1.041e-3	210
autosomal dominant hypocalcemia 1	Hereditary chronic pancreatitis	1	1	CASR (2)	0.11111	1.00000	5.195e-4	1.041e-3	210
hereditary leiomyomatosis and renal cell cancer	Pheochromocytoma/paraganglioma syndrome	1	1	FH (2)	0.11111	1.00000	5.195e-4	1.041e-3	
CHEK2-related cancer predisposition	hereditary nonpolyposis colon cancer	1	0	CHEK2 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
hereditary nonpolyposis colon cancer	Small cell ovary carcinoma	1	1	SMARCA4 (2)	0.11111	1.00000	5.195e-4	1.041e-3	261
hereditary nonpolyposis colon cancer	rhabdoid tumor predisposition syndrome 2	1	0	SMARCA4 (1)	0.11111	1.00000	5.195e-4	1.041e-3	261
Penile hypospadia	peroxisome biogenesis disorder due to PEX1 defect	1	1	PEX1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
perrault syndrome 2	Xx gonadal dysgenesis syndrome	1	1	HARS2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	353
perrault syndrome 5	Xx gonadal dysgenesis syndrome	1	1	TWNK (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Prader-willi syndrome	Schaaf-yang syndrome	1	1	MAGEL2 (6)	0.11111	1.00000	5.195e-4	1.041e-3	
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	Telomere-related pulmonary fibrosis and/or bone marrow failure	1	1	NAF1 (4)	0.11111	1.00000	5.195e-4	1.041e-3	77
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	Telomere-related pulmonary fibrosis and/or bone marrow failure	1	1	NOP10 (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Hoyeraal hreidarsson syndrome	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	1	1	RTEL1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	77
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Telomere-related pulmonary fibrosis and/or bone marrow failure	1	1	RTEL1 (6)	0.11111	1.00000	5.195e-4	1.041e-3	77
Hoyeraal hreidarsson syndrome	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	1	1	PARN (3)	0.11111	1.00000	5.195e-4	1.041e-3	77
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Telomere-related pulmonary fibrosis and/or bone marrow failure	1	1	PARN (6)	0.11111	1.00000	5.195e-4	1.041e-3	77
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	Telomere-related pulmonary fibrosis and/or bone marrow failure	1	1	ZCCHC8 (5)	0.11111	1.00000	5.195e-4	1.041e-3	77
Hoyeraal hreidarsson syndrome	Revesz debuse syndrome	1	1	TINF2 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Hoyeraal hreidarsson syndrome	Revesz syndrome	1	1	TINF2 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Rhabdomyolysis	Ventricular outflow obstruction	1	1	INS (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Double outlet right ventricle	Right isomerism	1	1	GDF1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	56
Aicardi goutieres syndrome	RNASEH2A-related type 1 interferonopathy	1	1	RNASEH2A (2)	0.11111	1.00000	5.195e-4	1.041e-3	379
Aicardi goutieres syndrome	RNASEH2B-related type 1 interferonopathy	1	1	RNASEH2B (2)	0.11111	1.00000	5.195e-4	1.041e-3	379
Aicardi goutieres syndrome	RNASEH2C-related type 1 interferonopathy	1	1	RNASEH2C (2)	0.11111	1.00000	5.195e-4	1.041e-3	379
Robinow syndrome	Sweeney-cox syndrome	1	1	TWIST1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Robinow syndrome	TWIST1-related craniosynostosis	1	1	TWIST1 (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital nystagmus	RPE65-related dominant retinopathy	1	1	RPE65 (2)	0.11111	1.00000	5.195e-4	1.041e-3	400
Congenital nystagmus	RPE65-related recessive retinopathy	1	1	RPE65 (2)	0.11111	1.00000	5.195e-4	1.041e-3	400
Rubinstein-taybi syndrome	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	1	1	EP300 (6)	0.11111	1.00000	5.195e-4	1.041e-3	195
Aicardi goutieres syndrome	SAMHD1-related type 1 interferonopathy	1	1	SAMHD1 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Hyperammonemia	interstitial lung disease due to ABCA3 deficiency	1	1	ABCA3 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Intestinal cancer	Paraganglioma	1	1	SDHD (4)	0.11111	1.00000	5.195e-4	1.041e-3	78
Intestinal cancer	Pheochromocytoma/paraganglioma syndrome	1	1	SDHD (4)	0.11111	1.00000	5.195e-4	1.041e-3	78
hereditary nonpolyposis colon cancer	karyomegalic interstitial nephritis	1	0	FAN1 (1)	0.11111	1.00000	5.195e-4	1.041e-3	
Krabbe disease due to saposin A deficiency	Metachromatic leukodystrophy	1	1	PSAP (5)	0.11111	1.00000	5.195e-4	1.041e-3	114
Liposarcoma	silver-russell syndrome 5	1	1	HMGA2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	361
17q11.2 microduplication syndrome	Liposarcoma	1	1	NF1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Cervical lymphadenopathy	Liposarcoma	1	1	NF1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Liposarcoma	Watson syndrome	1	1	NF1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
loeys-dietz syndrome 2	Ruptured abdominal aortic aneurysm	1	1	TGFBR2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
loeys-dietz syndrome 2	Ruptured aortic aneurysm	1	1	TGFBR2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
loeys-dietz syndrome 2	Ruptured thoracic aortic aneurysm	1	1	TGFBR2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
loeys-dietz syndrome 2	Thoracoabdominal aortic aneurysm	1	1	TGFBR2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
lysosomal acid lipase deficiency	Niemann-pick disease	1	1	LIPA (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Charcot-marie-tooth disease, x-linked	neuronopathy, distal hereditary motor, autosomal recessive 5	1	1	DNAJB2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	13
Niemann-pick disease	Visceral acid sphingomyelinase deficiency	1	1	SMPD1 (7)	0.11111	1.00000	5.195e-4	1.041e-3	
Niemann-pick disease	Niemann-Pick disease, type C1	1	1	NPC1 (8)	0.11111	1.00000	5.195e-4	1.041e-3	231
Niemann-pick disease	Niemann-Pick disease, type C2	1	1	NPC2 (8)	0.11111	1.00000	5.195e-4	1.041e-3	231
46,xy partial gonadal dysgenesis	NR5A1-related sex development disorder	1	1	NR5A1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
obsolete early infantile epileptic encephalopathy	Pyridoxine dependent epilepsy	1	1	GAD1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital nystagmus	oculocutaneous albinism type 1	1	1	TYR (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Congenital nystagmus	oculocutaneous albinism type 2	1	1	OCA2 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
oculocutaneous albinism type 2	Prader-willi syndrome	1	1	OCA2 (3)	0.11111	1.00000	5.195e-4	1.041e-3	
ornithine carbamoyltransferase deficiency	Urea cycle disorder	1	1	OTC (2)	0.11111	1.00000	5.195e-4	1.041e-3	202
Hyperammonemia	ornithine carbamoyltransferase deficiency	1	1	OTC (3)	0.11111	1.00000	5.195e-4	1.041e-3	202
ornithine translocase deficiency	Urea cycle disorder	1	1	SLC25A15 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	Osteosclerosis	1	1	CTNNB1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Osteosclerosis	1	1	CTNNB1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Kenny caffey syndrome	Osteosclerosis	1	1	TBCE (5)	0.11111	1.00000	5.195e-4	1.041e-3	
Accessory skin tag	P5CS deficiency	1	1	ALDH18A1 (2)	0.11111	1.00000	5.195e-4	1.041e-3	
Pantothenate kinase-associated neurodegeneration	Rubinstein-taybi syndrome	1	1	PANK2 (4)	0.11111	1.00000	5.195e-4	1.041e-3	
Paraneoplastic syndrome	Secondary polycythemia	1	1	EPO (3)	0.11111	1.00000	5.195e-4	1.041e-3	
Rosacea	Toxic epidermal necrolysis	2	0	IKZF1 (1), SPMIP7 (1)	0.04000	0.14286	5.021e-4	1.041e-3	
Testicular carcinoma	Transient neonatal diabetes mellitus	2	2	HNF1B (3), GATA4 (3)	0.02941	0.22222	5.282e-4	1.058e-3	
Testicular germ cell tumor	Transient neonatal diabetes mellitus	2	2	HNF1B (3), GATA4 (3)	0.02941	0.22222	5.282e-4	1.058e-3	
Bradyopsia	Retinitis pigmentosa	2	2	RGS9 (4), RGS9BP (2)	0.00560	1.00000	5.331e-4	1.068e-3	
Blepharoptosis	Hereditary parkinson disease	2	1	LRRK2 (4), ND1 (1)	0.04348	0.10526	5.349e-4	1.072e-3	
Cushing's disease	Ocular hypertension	2	2	NR3C1 (2), CDH23 (2)	0.03390	0.18182	5.357e-4	1.073e-3	296
Corneal astigmatism	Esophageal adenocarcinoma	3	0	KHDRBS2 (1), PLCL1 (1), FMNL2 (1)	0.02885	0.08571	5.531e-4	1.108e-3	
Schizoaffective disorder	Seasonal affective disorder	2	0	NPAS2 (1), NPY (1)	0.04082	0.12500	5.570e-4	1.115e-3	
Metabolic bone disorder	Osteonecrosis	2	2	KCNMA1 (2), MMP2 (2)	0.03846	0.14286	5.580e-4	1.117e-3	
Esophageal atresia	Toxic nodular goiter	2	2	TERT (2), INSR (2)	0.04167	0.11765	5.581e-4	1.117e-3	
Cervical polyp	Eczema	2	0	IRAK1BP1 (1), MEI4 (1)	0.00546	1.00000	5.604e-4	1.122e-3	
Conduct disorder	Genetic predisposition to disease	3	3	ERCC4 (2), ADH1B (2), ADH1C (2)	0.03061	0.06250	5.644e-4	1.130e-3	
Cleidocranial dysplasia	Metaphyseal dysplasia	1	1	RUNX2 (6)	0.16667	0.33333	5.844e-4	1.135e-3	
Combined deficiency of vitamin k-dependent clotting factors	Coumarin resistance	1	1	VKORC1 (5)	0.16667	0.33333	5.844e-4	1.135e-3	417
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Congenital communicating hydrocephalus	1	1	WDR81 (3)	0.16667	0.33333	5.844e-4	1.135e-3	
Congenital communicating hydrocephalus	Microlissencephaly	1	1	WDR81 (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Coronary artery vasospasm	Resistant hypertension	1	0	NOS3 (1)	0.16667	0.33333	5.844e-4	1.135e-3	326
Coronary artery vasospasm	Intestinal perforation	1	1	NOS3 (2)	0.16667	0.33333	5.844e-4	1.135e-3	326
Coumarin resistance	Warfarin sensitivity	1	1	CYP2C9 (2)	0.16667	0.33333	5.844e-4	1.135e-3	
15q11.2 microdeletion syndrome	lissencephaly spectrum disorders	1	1	TUBG1 (3)	0.16667	0.33333	5.844e-4	1.135e-3	144
Acne inversa	Amyloid neuropathy	1	1	PSEN1 (3)	0.16667	0.33333	5.844e-4	1.135e-3	151
Antithrombin deficiency	Myoclonic epilepsy with ragged red fibers	1	1	IL1B (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Aplasia cutis congenita with epibulbar dermoids	Intracranial arteriovenous malformation	1	1	KRAS (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Aplasia cutis congenita with epibulbar dermoids	Schimmelpenning-feuerstein-mims syndrome	1	1	KRAS (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Anuria	Asthenozoospermia	1	1	PLAU (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Carnitine palmitoyltransferase deficiency	Fatty acid metabolism disorder	1	1	CPT1A (7)	0.16667	0.33333	5.844e-4	1.135e-3	
Childhood-onset epilepsy syndrome	Early onset epilepsy with developmental delay	1	1	ATP6V0C (4)	0.16667	0.33333	5.844e-4	1.135e-3	
Chromosome 22q11.2 microdeletion syndrome	Myelogenous leukemia	1	1	BCR (3)	0.16667	0.33333	5.844e-4	1.135e-3	266
Bilateral perisylvian polymicrogyria	Combined immunodeficiency, enteropathy spectrum	1	1	PI4KA (2)	0.16667	0.33333	5.844e-4	1.135e-3	269
Bilateral perisylvian polymicrogyria	Gastrointestinal defects and immunodeficiency syndrome	1	1	PI4KA (4)	0.16667	0.33333	5.844e-4	1.135e-3	269
Bile duct cancer	Chromosome 22q11.2 microdeletion syndrome	1	1	MAPK1 (3)	0.16667	0.33333	5.844e-4	1.135e-3	
Dermatitis herpetiformis	Spinal cord compression	1	0	TNF (1)	0.16667	0.33333	5.844e-4	1.135e-3	
Dermatitis herpetiformis	Desmoid tumor	1	1	TNF (2)	0.16667	0.33333	5.844e-4	1.135e-3	37
Early onset vitamin b6 dependent epilepsy	Neonatal convulsions	1	1	ALDH7A1 (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Eichsfeld type congenital muscular dystrophy	Multiminicore myopathy	1	1	SELENON (3)	0.16667	0.33333	5.844e-4	1.135e-3	
Estrogen resistance	Myelogenous leukemia	1	1	CCDC170 (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Glucocorticoid deficiency with achalasia	Intellectual disability with strabismus syndrome	1	0	GMPPA (1)	0.16667	0.33333	5.844e-4	1.135e-3	383
Hemiparkinsonism	Juvenile parkinsonism	1	1	DNAJC6 (3)	0.16667	0.33333	5.844e-4	1.135e-3	
Hemiparkinsonism	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	1	0	DNAJC6 (1)	0.16667	0.33333	5.844e-4	1.135e-3	
Bilateral perisylvian polymicrogyria	Heparin cofactor 2 deficiency	1	1	PI4KA (2)	0.16667	0.33333	5.844e-4	1.135e-3	269
Combined immunodeficiency, enteropathy spectrum	Heparin cofactor 2 deficiency	1	0	PI4KA (1)	0.16667	0.33333	5.844e-4	1.135e-3	269
Gastrointestinal defects and immunodeficiency syndrome	Heparin cofactor 2 deficiency	1	1	PI4KA (3)	0.16667	0.33333	5.844e-4	1.135e-3	269
hereditary breast carcinoma	Retinal vasculopathy with cerebral leukodystrophy	1	1	ATRIP (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Cerebellar ataxia, impaired intellectual development, and dysequilibrium	Microlissencephaly	1	1	WDR81 (2)	0.16667	0.33333	5.844e-4	1.135e-3	
Hydrolethalus syndrome	Male infertility testicular dysgenesis	1	1	KIF7 (5)	0.16667	0.33333	5.844e-4	1.135e-3	192
Hypocalcemic vitamin d-dependent rickets	Vitamin d deficiency	1	1	VDR (3)	0.16667	0.33333	5.844e-4	1.135e-3	
Benign mucous membrane pemphigoid with ocular involvement	Tonsil cancer	1	1	HLA-DQB1 (2)	0.16667	0.33333	5.844e-4	1.135e-3	1
Bouillaud’s disease	Tonsil cancer	1	1	HLA-DQB1 (2)	0.16667	0.33333	5.844e-4	1.135e-3	1
Acute disseminated encephalomyelitis	Tonsil cancer	1	1	HLA-DQB1 (2)	0.16667	0.33333	5.844e-4	1.135e-3	1
Intellectual disability with strabismus syndrome	Triple a syndrome	1	1	GMPPA (2)	0.16667	0.33333	5.844e-4	1.135e-3	383
Intestinal perforation	Resistant hypertension	1	1	NOS3 (2)	0.16667	0.33333	5.844e-4	1.135e-3	326
Juvenile parkinsonism	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	1	1	DNAJC6 (3)	0.16667	0.33333	5.844e-4	1.135e-3	
Leukocyte adhesion deficiency	Leukocyte disorders	1	1	ITGB2 (6)	0.16667	0.33333	5.844e-4	1.135e-3	
Multiminicore myopathy	Rigid spine muscular dystrophy	1	1	SELENON (3)	0.16667	0.33333	5.844e-4	1.135e-3	
Activated pi3k-delta syndrome	Roifman syndrome	1	1	PIK3CD (3)	0.16667	0.33333	5.844e-4	1.135e-3	375
Haddad syndrome	Phenylketonuria	1	1	PAH (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital central hypoventilation syndrome	Phenylketonuria	1	1	PAH (4)	0.10000	1.00000	5.845e-4	1.135e-3	
platelet-type bleeding disorder 11	Von willebrand disorder	1	1	GP6 (2)	0.10000	1.00000	5.845e-4	1.135e-3	414
platelet-type bleeding disorder 8	Von willebrand disorder	1	1	P2RY12 (2)	0.10000	1.00000	5.845e-4	1.135e-3	414
platelet-type von Willebrand disease	Von willebrand disorder	1	1	GP1BA (4)	0.10000	1.00000	5.845e-4	1.135e-3	
polycystic liver disease 2	Tubulointerstitial kidney disease	1	1	SEC63 (2)	0.10000	1.00000	5.845e-4	1.135e-3	97
Polynesian bronchiectasis	primary ciliary dyskinesia 3	1	1	DNAH5 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
Polynesian bronchiectasis	primary ciliary dyskinesia 15	1	1	CCDC40 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
primary ciliary dyskinesia	spermatogenic failure 56	1	0	DNAH10 (1)	0.10000	1.00000	5.845e-4	1.135e-3	11
primary ciliary dyskinesia	Young syndrome	1	1	CFAP221 (3)	0.10000	1.00000	5.845e-4	1.135e-3	11
primary ciliary dyskinesia	spermatogenic failure 19	1	0	CFAP43 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
primary ciliary dyskinesia	spermatogenic failure 18	1	0	DNAH1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	11
Polynesian bronchiectasis	primary ciliary dyskinesia 1	1	1	DNAI1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
Ellis-van creveld syndrome	primary ciliary dyskinesia 14	1	1	CCDC39 (2)	0.10000	1.00000	5.845e-4	1.135e-3	233
Polynesian bronchiectasis	primary ciliary dyskinesia 17	1	1	DNAAF19 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
Polynesian bronchiectasis	primary ciliary dyskinesia 2	1	1	DNAAF3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
Polynesian bronchiectasis	primary ciliary dyskinesia 21	1	1	DRC1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
Polynesian bronchiectasis	primary ciliary dyskinesia 25	1	1	DNAAF4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
Polynesian bronchiectasis	primary ciliary dyskinesia 7	1	1	DNAH11 (2)	0.10000	1.00000	5.845e-4	1.135e-3	9
Intrahepatic cholestasis	progressive familial intrahepatic cholestasis type 3	1	1	ABCB4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	135
Progressive myoclonic epilepsy with renal failure	progressive myoclonus epilepsy	1	1	SEMA6B (5)	0.10000	1.00000	5.845e-4	1.135e-3	339
Disseminated intravascular coagulation	Prostatic disease	1	1	OXT (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Autoimmune pulmonary alveolar proteinosis	Pulmonary alveolar proteinosis	1	1	HLA-DRB1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Heerfordt syndrome	Pulmonary alveolar proteinosis	1	0	HLA-DRB1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
radioulnar synostosis with amegakaryocytic thrombocytopenia 1	Urogenital abnormalities	1	1	HOXA11 (3)	0.10000	1.00000	5.845e-4	1.135e-3	74
Exudative vitreoretinopathy	RCBTB1-related retinopathy	1	1	RCBTB1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	189
Hypercalciuria	renal hypomagnesemia 3	1	1	CLDN16 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	Urogenital abnormalities	1	1	ATP6V1B1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	74
Cardiac conduction disease	Repolarization syndrome	1	0	CACNB2 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Pulmonary alveolar proteinosis	Respiratory distress with surfactant metabolism deficiency	1	1	SFTPC (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Retinoblastoma	Small cell carcinoma	1	1	RB1 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Charge syndrome	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	1	1	EP300 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
SAMD9-related spectrum and myeloid neoplasm risk	Urogenital abnormalities	1	1	SAMD9 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Imperforate anus	MED12-related intellectual disability syndrome	1	1	MED12 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Maffucci syndrome	Metaphyseal enchondromatosis	1	1	IDH1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Anencephaly	methylcobalamin deficiency type cblE	1	1	MTRR (2)	0.10000	1.00000	5.845e-4	1.135e-3	155
Intracellular cobalamin metabolism disorder	methylcobalamin deficiency type cblG	1	1	MTR (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Intracellular cobalamin metabolism disorder	methylmalonic acidemia with homocystinuria, type cblJ	1	1	ABCD4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	198
Intracellular cobalamin metabolism disorder	methylmalonic aciduria and homocystinuria type cblC	1	1	MMACHC (2)	0.10000	1.00000	5.845e-4	1.135e-3	198
Intracellular cobalamin metabolism disorder	methylmalonic aciduria and homocystinuria type cblF	1	1	LMBRD1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Microcephalic dwarfism	Polycythemia vera	1	1	DNMT3A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Hepatic insufficiency	Mucocutaneous ulceration	1	1	RELA (3)	0.10000	1.00000	5.845e-4	1.135e-3	80
Cardiac conduction disease	MYH-6 related congenital heart defects	1	1	MYH6 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Myoclonus-renal failure syndrome	progressive myoclonus epilepsy	1	1	SCARB2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	339
Cataract-microcornea syndrome	nance-horan syndrome	1	1	NHS (2)	0.10000	1.00000	5.845e-4	1.135e-3	51
Epilepsy of infancy with migrating focal seizures	neonatal encephalopathy with non-epileptic myoclonus	1	1	KCNQ2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Neonatal hyperbilirubinemia	Small cell carcinoma	1	1	UGT1A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Crigler-najjar syndrome	Neonatal hyperbilirubinemia	1	1	UGT1A1 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Lucey-driscoll syndrome	Neonatal hyperbilirubinemia	1	1	UGT1A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Epilepsy of infancy with migrating focal seizures	neonatal-onset developmental and epileptic encephalopathy	1	1	KCNQ2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Exudative vitreoretinopathy	FZD4-related exudative vitreoretinopathy	1	1	FZD4 (6)	0.10000	1.00000	5.845e-4	1.135e-3	189
Bartter syndrome	Genetic renal tubular disease	1	0	SLC12A3 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
dystonia 27	Genetic torsion dystonia	1	1	COL6A3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Genetic torsion dystonia	GTP cyclohydrolase I deficiency	1	1	GCH1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Ghosal hematodiaphyseal dysplasia	Imperforate anus	1	1	TBXAS1 (7)	0.10000	1.00000	5.845e-4	1.135e-3	111
Glucocorticoid deficiency	Intermittent explosive disorder	1	0	COMT (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Glycoprotein vi deficiency	Von willebrand disorder	1	0	GP6 (1)	0.10000	1.00000	5.845e-4	1.135e-3	414
G6PD deficiency	Granulomatous disease	1	1	G6PD (3)	0.10000	1.00000	5.845e-4	1.135e-3	12
anemia, nonspherocytic hemolytic, due to G6PD deficiency	Granulomatous disease	1	1	G6PD (3)	0.10000	1.00000	5.845e-4	1.135e-3	12
Combined pituitary hormone deficiency	Growth hormone deficiency with pituitary anomalies	1	1	HESX1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	273
Growth hormone deficiency with pituitary anomalies	Pituitary hormone deficiency	1	0	HESX1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	273
Growth retardation, developmental delay, and facial dysmorphism	Venous insufficiency	1	1	FTO (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Diabetic polyneuropathy	Growth retardation, developmental delay, and facial dysmorphism	1	1	FTO (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Growth retardation, developmental delay, coarse facies, and early death	Venous insufficiency	1	1	FTO (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Diabetic polyneuropathy	Growth retardation, developmental delay, coarse facies, and early death	1	1	FTO (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital digestive system anomaly	Haddad syndrome	1	0	RET (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Haddad syndrome	Medullary thyroid cancer	1	1	RET (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Haddad syndrome	multiple endocrine neoplasia type 2B	1	1	RET (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Disseminated intravascular coagulation	Hereditary antithrombin deficiency	1	1	SERPINC1 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital joint contractures	hereditary sensory and autonomic neuropathy type 6	1	1	DST (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Disseminated intravascular coagulation	hereditary thrombophilia due to congenital protein C deficiency	1	1	PROC (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Neurooculorenal syndrome	Pituitary hormone deficiency	1	1	ROBO1 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Nocturnal frontal lobe epilepsy	primary ciliary dyskinesia 28	1	1	SPAG1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
normophosphatemic familial tumoral calcinosis	Urogenital abnormalities	1	1	SAMD9 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Exudative vitreoretinopathy	norrie disease	1	1	NDP (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Bartter syndrome	obsolete antenatal Bartter syndrome	1	1	SLC12A1 (7)	0.10000	1.00000	5.845e-4	1.135e-3	410
Hyperproinsulinemia	obsolete early infantile epileptic encephalopathy	1	1	GAD1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	118
Aniridia	Ocular dysgenesis	1	1	ELP4 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Aniridia	ocular dysgenesis caused by defects in PAX6 regulation	1	1	ELP4 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Diabetic polyneuropathy	Other specified diabetes mellitus with unspecified complications	1	1	WFS1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Benign pemphigus	P5CS deficiency	1	1	ALDH18A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Darier disease	P5CS deficiency	1	1	ALDH18A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Optic neuropathy	Periodic paralysis with later-onset distal motor neuropathy	1	0	ATP8 (1)	0.10000	1.00000	5.845e-4	1.135e-3	26
dystonia 27	Dystonia musculorum deformans	1	1	COL6A3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Dystonia musculorum deformans	GTP cyclohydrolase I deficiency	1	1	GCH1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome	Optic neuropathy	1	0	KARS1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome	Optic neuropathy	1	1	KARS1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital arteriovenous malformation	EPHB4-associated vascular malformation spectrum	1	1	EPHB4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Chondrosarcoma	exostoses, multiple, type 1	1	1	EXT1 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Exudative vitreoretinopathy	Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	1	1	CTNNB1 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Fabry disease	renal tubular dysgenesis - ACE	1	1	ACE (2)	0.10000	1.00000	5.845e-4	1.135e-3	60
Fabry disease	krabbe disease	1	1	GALC (2)	0.10000	1.00000	5.845e-4	1.135e-3	60
Fabry disease	Peptic esophagitis	1	0	VDR (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Disseminated intravascular coagulation	Factor vii deficiency	1	1	F7 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Factor xi deficiency	Thromboembolic pulmonary hypertension	1	1	F11 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital joint contractures	familial hemiplegic migraine	1	1	SCN1A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
FAS-related autoimmune lymphoproliferative immune disorder	Splenic disease	1	1	FAS (3)	0.10000	1.00000	5.845e-4	1.135e-3	246
Dystonia musculorum deformans	Focal dystonia	1	1	GNAL (2)	0.10000	1.00000	5.845e-4	1.135e-3	172
Focal dystonia	Genetic torsion dystonia	1	1	GNAL (2)	0.10000	1.00000	5.845e-4	1.135e-3	172
Autoimmune pulmonary alveolar proteinosis	Follicular lymphoma	1	0	HLA-DRB1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	254
Follicular lymphoma	Heerfordt syndrome	1	1	HLA-DRB1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	254
Aniridia	FOXC1-related anterior segment dysgenesis	1	1	FOXC1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	82
Exudative vitreoretinopathy	TSPAN12-related exudative vitreoretinopathy	1	1	TSPAN12 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Dystonia musculorum deformans	TUBB4A-related neurologic disorder	1	1	TUBB4A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Genetic torsion dystonia	TUBB4A-related neurologic disorder	1	1	TUBB4A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Bilateral multicystic dysplastic kidney	Tubulointerstitial kidney disease	1	1	HNF1B (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Tubulointerstitial kidney disease	tubulointerstitial kidney disease, autosomal dominant, 2	1	1	MUC1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	97
Congenital hypoplasia of aortic arch	Urogenital abnormalities	1	0	PKHD1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	74
Periportal fibrosis	Urogenital abnormalities	1	0	PKHD1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	74
Congenital hernia of foramen of bochdalek	Venous insufficiency	1	1	EFEMP1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Kabuki syndrome	ventriculomegaly and arthrogryposis	1	1	KIDINS220 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Kabuki syndrome	Ventriculomegaly with arthrogryposis	1	1	KIDINS220 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Charge syndrome	Verheij syndrome	1	1	PUF60 (3)	0.10000	1.00000	5.845e-4	1.135e-3	370
Vitamin b12-unresponsive methylmalonic acidemia	Vitamin deficiency disorder	1	1	FUT2 (3)	0.10000	1.00000	5.845e-4	1.135e-3	100
Haddad syndrome	Waardenburg syndrome type 4B	1	1	EDN3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital central hypoventilation syndrome	Waardenburg syndrome type 4B	1	1	EDN3 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Dystonia musculorum deformans	Whispering dysphonia	1	1	TUBB4A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Genetic torsion dystonia	Whispering dysphonia	1	1	TUBB4A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Combined pituitary hormone deficiency	Winkelman bethge pfeiffer syndrome	1	1	LHX3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	273
Pituitary hormone deficiency	Winkelman bethge pfeiffer syndrome	1	1	LHX3 (3)	0.10000	1.00000	5.845e-4	1.135e-3	273
Diabetic polyneuropathy	Wolfram-like syndrome	1	1	WFS1 (8)	0.10000	1.00000	5.845e-4	1.135e-3	
Benign pemphigus	Wrinkly skin syndrome	1	1	ATP6V0A2 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Darier disease	Wrinkly skin syndrome	1	1	ATP6V0A2 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Dystonia musculorum deformans	X-linked dystonia-parkinsonism	1	1	TAF1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	172
Genetic torsion dystonia	X-linked dystonia-parkinsonism	1	1	TAF1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	172
interstitial lung disease due to ABCA3 deficiency	Pulmonary alveolar proteinosis	1	1	ABCA3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Intrahepatic cholestasis	mednik syndrome	1	1	AP1S1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	135
Branchial arch abnormalities syndrome	Kabuki syndrome	1	1	KMT2D (8)	0.10000	1.00000	5.845e-4	1.135e-3	
Branchial cleft anomalies	Kabuki syndrome	1	1	KMT2D (8)	0.10000	1.00000	5.845e-4	1.135e-3	
Charge syndrome	kabuki syndrome 2	1	1	KDM6A (2)	0.10000	1.00000	5.845e-4	1.135e-3	370
Kabuki syndrome	kabuki syndrome 2	1	1	KDM6A (7)	0.10000	1.00000	5.845e-4	1.135e-3	
Lucey-driscoll syndrome	Serum bilirubin level	1	1	UGT1A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Collagenopathy	Maffucci syndrome	1	1	COL2A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	15
Coxa plana	Maffucci syndrome	1	0	COL2A1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	15
Czech dysplasia	Maffucci syndrome	1	1	COL2A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	15
Dysspondyloenchondromatosis	Maffucci syndrome	1	1	COL2A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	15
male infertility due to globozoospermia	Male infertility globozoospermia	1	1	DPY19L2 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Male infertility globozoospermia	Xy gonadal dysgenesis syndrome	1	0	PPP2R3C (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Male infertility large polyploid spermatozoa	spermatogenic failure 56	1	1	DNAH10 (3)	0.10000	1.00000	5.845e-4	1.135e-3	11
Male infertility large polyploid spermatozoa	spermatogenic failure 46	1	1	DNAH8 (2)	0.10000	1.00000	5.845e-4	1.135e-3	11
Male infertility large polyploid spermatozoa	spermatogenic failure, x-linked, 3	1	1	CFAP47 (3)	0.10000	1.00000	5.845e-4	1.135e-3	11
Male infertility large polyploid spermatozoa	spermatogenic failure 5	1	1	AURKC (4)	0.10000	1.00000	5.845e-4	1.135e-3	11
heyn-sproul-jackson syndrome	Polycythemia vera	1	1	DNMT3A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Hurthle cell thyroid cancer	Thyroid carcinoma	1	1	NDUFA13 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Eye pain	Hypercalciuria	1	0	POMC (1)	0.10000	1.00000	5.845e-4	1.135e-3	
hyperinsulinemic hypoglycemia, familial, 2	Transient neonatal diabetes mellitus	1	1	KCNJ11 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Bone marrow failure syndromes	hyperinsulinism due to glucokinase deficiency	1	1	GCK (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Hyperproinsulinemia	Hyperprolactinemia	1	1	PRLR (6)	0.10000	1.00000	5.845e-4	1.135e-3	118
Bartter syndrome	Hypokalemia-hypomagnesemia	1	1	SLC12A3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
hypoplasminogenemia	Splenic disease	1	1	PLG (2)	0.10000	1.00000	5.845e-4	1.135e-3	246
immunodeficiency-centromeric instability-facial anomalies syndrome 1	Kabuki syndrome	1	1	DNMT3B (2)	0.10000	1.00000	5.845e-4	1.135e-3	
immunodeficiency-centromeric instability-facial anomalies syndrome 2	Kabuki syndrome	1	1	ZBTB24 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Hepatic insufficiency	immunodeficiency, developmental delay, and hypohomocysteinemia	1	1	NFE2L2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Imperforate anus	Neurooculorenal syndrome	1	1	ROBO1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Imperforate anus	Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	1	1	CTNNB1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
inborn disorder of cobalamin metabolism and transport	Intracellular cobalamin metabolism disorder	1	1	MMADHC (2)	0.10000	1.00000	5.845e-4	1.135e-3	
SEC61A1 deficiency	Tubulointerstitial kidney disease	1	1	SEC61A1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	97
Bartter syndrome	Sensorineural deafness with renal dysfunction	1	1	BSND (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Serum bilirubin level	Small cell carcinoma	1	1	UGT1A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Pulmonary alveolar proteinosis	SFTPC-related interstitial lung disease	1	1	SFTPC (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Ellis-van creveld syndrome	short-rib thoracic dysplasia 7 with or without polydactyly	1	1	WDR35 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Adrenocortical carcinoma	Small cell carcinoma	1	1	TP53 (2)	0.10000	1.00000	5.845e-4	1.135e-3	88
Choroid plexus carcinoma	Small cell carcinoma	1	1	TP53 (3)	0.10000	1.00000	5.845e-4	1.135e-3	88
Choroid plexus papilloma	Small cell carcinoma	1	1	TP53 (3)	0.10000	1.00000	5.845e-4	1.135e-3	88
Kabuki syndrome	spastic paraplegia, intellectual disability, nystagmus, and obesity	1	1	KIDINS220 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Brain tumor-polyposis syndrome	Splenic disease	1	1	APC (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Disseminated intravascular coagulation	Spontaneous coronary artery dissection	1	1	F3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	36
Spontaneous coronary artery dissection	Von willebrand disorder	1	1	F3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Pulmonary alveolar proteinosis	surfactant metabolism dysfunction, pulmonary, 1	1	1	SFTPB (2)	0.10000	1.00000	5.845e-4	1.135e-3	425
Pulmonary alveolar proteinosis	surfactant metabolism dysfunction, pulmonary, 4	1	1	CSF2RA (3)	0.10000	1.00000	5.845e-4	1.135e-3	425
Pulmonary alveolar proteinosis	surfactant metabolism dysfunction, pulmonary, 5	1	1	CSF2RB (2)	0.10000	1.00000	5.845e-4	1.135e-3	425
Collagenopathy	Synovitis	1	1	COL2A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	15
Coxa plana	Synovitis	1	1	COL2A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	15
Czech dysplasia	Synovitis	1	1	COL2A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	15
Dysspondyloenchondromatosis	Synovitis	1	1	COL2A1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	15
Polycythemia vera	Tatton-Brown-Rahman overgrowth syndrome	1	1	DNMT3A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Haddad syndrome	Tetrahydrobiopterin-responsive phenylketonuria	1	1	PAH (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital central hypoventilation syndrome	Tetrahydrobiopterin-responsive phenylketonuria	1	1	PAH (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Thiamine-responsive megaloblastic anemia	Venous insufficiency	1	1	SLC19A2 (7)	0.10000	1.00000	5.845e-4	1.135e-3	84
Disseminated intravascular coagulation	Thrombomodulin-related bleeding disorder	1	1	THBD (6)	0.10000	1.00000	5.845e-4	1.135e-3	36
Disseminated intravascular coagulation	thrombophilia due to thrombin defect	1	1	F2 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital chromosomal disease	Thyroid carcinoma	1	1	POT1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Thyroid carcinoma	tumor predisposition syndrome 3	1	1	POT1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Revesz debuse syndrome	Thyroid carcinoma	1	1	TINF2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Charge syndrome	TNF receptor 1-associated periodic fever syndrome	1	1	TNFRSF1A (2)	0.10000	1.00000	5.845e-4	1.135e-3	
transcobalamin ii deficiency	Vitamin deficiency disorder	1	1	TCN2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	100
Benign pemphigus	De barsy syndrome	1	1	ALDH18A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Darier disease	De barsy syndrome	1	1	ALDH18A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Deafness with congenital and adult-onset progressive leukodystrophy	Optic neuropathy	1	1	KARS1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Developmental delay with immunodeficiency syndrome	Hepatic insufficiency	1	1	NFE2L2 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Diabetic maculopathy	hao-fountain syndrome	1	1	USP7 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Diabetic maculopathy	neuroblastoma, susceptibility to, 3	1	1	ALK (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Diabetic maculopathy	Turricephaly	1	1	ZIC1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	Transient neonatal diabetes mellitus	1	1	KCNJ11 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Cardiac conduction disease	dilated cardiomyopathy 1EE	1	1	MYH6 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Disseminated intravascular coagulation	factor XIII, A subunit, deficiency of	1	1	F13A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Distal renal tubular acidosis	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	1	1	ATP6V1B1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
16p13.2 microdeletion syndrome	Diabetic maculopathy	1	1	USP7 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
22q11.2 deletion syndrome	Intermittent explosive disorder	1	1	COMT (2)	0.10000	1.00000	5.845e-4	1.135e-3	
22q11.2 deletion syndrome	Chromosome 22q11.2 microduplication syndrome	1	1	TBX1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
22q11.2 deletion syndrome	Conotruncal anomaly face syndrome	1	1	TBX1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
8q24.3 microdeletion syndrome	Charge syndrome	1	1	PUF60 (2)	0.10000	1.00000	5.845e-4	1.135e-3	370
Aarskog-scott syndrome, x-linked	Urogenital abnormalities	1	1	FGD1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Acral self-healing collodion baby	Congenital ichthyosiform erythroderma	1	1	TGM1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	232
acrofacial dysostosis, weyers type	Ellis-van creveld syndrome	1	1	EVC2 (7)	0.10000	1.00000	5.845e-4	1.135e-3	233
Acrokeratosis verruciformis	Darier disease	1	1	ATP2A2 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
amyotrophic lateral sclerosis type 19	Peritoneal disease	1	1	ERBB4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	312
Aniridia	aniridia 3	1	1	TRIM44 (5)	0.10000	1.00000	5.845e-4	1.135e-3	82
ciliary dyskinesia, primary, 39	Congenital arteriovenous malformation	1	1	LRRC56 (2)	0.10000	1.00000	5.845e-4	1.135e-3	17
ciliopathy-IFT74	Male infertility large polyploid spermatozoa	1	1	IFT74 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Coats disease	Exudative vitreoretinopathy	1	1	NDP (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Cobalamin metabolism disorder	Intracellular cobalamin metabolism disorder	1	1	MMADHC (2)	0.10000	1.00000	5.845e-4	1.135e-3	
combined immunodeficiency due to RELA haploinsufficiency	Hepatic insufficiency	1	1	RELA (2)	0.10000	1.00000	5.845e-4	1.135e-3	80
combined pituitary hormone deficiencies, genetic form	Combined pituitary hormone deficiency	1	1	FOXA2 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Combined pituitary hormone deficiency	Culler-jones syndrome	1	1	GLI2 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Combined pituitary hormone deficiency	Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	1	1	GLI2 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
complex movement disorder with or without neurodevelopmental features	Dystonia musculorum deformans	1	1	HPCA (3)	0.10000	1.00000	5.845e-4	1.135e-3	172
complex movement disorder with or without neurodevelopmental features	Genetic torsion dystonia	1	1	HPCA (2)	0.10000	1.00000	5.845e-4	1.135e-3	172
congenital bile acid synthesis defect 1	Intrahepatic cholestasis	1	1	HSD3B7 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital central hypoventilation syndrome	Congenital digestive system anomaly	1	1	RET (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital central hypoventilation syndrome	Medullary thyroid cancer	1	1	RET (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital central hypoventilation syndrome	multiple endocrine neoplasia type 2B	1	1	RET (3)	0.10000	1.00000	5.845e-4	1.135e-3	
congenital dyserythropoietic anemia type 2	Cowden disease	1	1	SEC23B (6)	0.10000	1.00000	5.845e-4	1.135e-3	78
Congenital esophageal anomaly	Repolarization syndrome	1	0	CACNB2 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital esophageal anomaly	X-linked opitz syndrome	1	1	MID1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital esophageal anomaly	X-linked Opitz G/BBB syndrome	1	1	MID1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital esophageal anomaly	Congenital insufficiency of mitral valve	1	0	LMCD1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital factor ii deficiency	Disseminated intravascular coagulation	1	1	F2 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital factor vii deficiency	Disseminated intravascular coagulation	1	1	F7 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital factor xi deficiency	Thromboembolic pulmonary hypertension	1	1	F11 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Bone marrow failure syndromes	Congenital glucokinase-related hyperinsulinism	1	1	GCK (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Combined pituitary hormone deficiency	Congenital hypopituitarism	1	1	FOXA2 (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital lipoid adrenal hyperplasia	Glucocorticoid deficiency	1	1	STAR (4)	0.10000	1.00000	5.845e-4	1.135e-3	
congenital myasthenic syndrome 17	Maffucci syndrome	1	1	LRP4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Bone marrow failure syndromes	Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome	1	1	MYSM1 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital prothrombin deficiency	Disseminated intravascular coagulation	1	1	F2 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Cataract-microcornea syndrome	Congenital sclerocornea	1	1	GJA8 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital sensory neuropathy	Corneal ulcer	1	1	NGF (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Congenital arteriovenous malformation	Conn syndrome	1	0	CACNA1H (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Cataract-microcornea syndrome	Coralliform cataract	1	1	CRYGD (3)	0.10000	1.00000	5.845e-4	1.135e-3	51
Corneal ulcer	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	1	1	ALPK1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Cowden disease	cowden syndrome 6	1	1	AKT1 (7)	0.10000	1.00000	5.845e-4	1.135e-3	78
Craniocerebral trauma	Disseminated intravascular coagulation	1	1	SERPINC1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
cranioectodermal dysplasia 2	Ellis-van creveld syndrome	1	1	WDR35 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
craniosynostosis 6	Diabetic maculopathy	1	1	ZIC1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Crigler-najjar syndrome	Serum bilirubin level	1	1	UGT1A1 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Benign familial pemphigus	Benign pemphigus	1	1	ATP2C1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	94
bone marrow failure syndrome 3	Bone marrow failure syndromes	1	1	DNAJC21 (5)	0.10000	1.00000	5.845e-4	1.135e-3	319
bone marrow failure syndrome 4	Bone marrow failure syndromes	1	1	MYSM1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
bone marrow failure syndrome 6	Bone marrow failure syndromes	1	1	MDM4 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Adrenocortical carcinoma	Bone marrow failure syndromes	1	1	TP53 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Bone marrow failure syndromes	Choroid plexus carcinoma	1	1	TP53 (5)	0.10000	1.00000	5.845e-4	1.135e-3	
Bone marrow failure syndromes	Choroid plexus papilloma	1	1	TP53 (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Bone marrow neoplasms	Optic neuropathy	1	1	CSF3 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Aplasia and myelodysplasia	Bone marrow failure syndromes	1	1	SRP72 (4)	0.10000	1.00000	5.845e-4	1.135e-3	319
Arterial occlusive disease	Hepatic lipase deficiency	1	1	LIPC (3)	0.10000	1.00000	5.845e-4	1.135e-3	29
Arthrogryposis with oculomotor limitation and retinal anomalies	Congenital joint contractures	1	1	PIEZO2 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
Asperger syndrome	Behavior disorders	1	1	SLC6A4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	392
Ataxia with polyneuropathy	Optic neuropathy	1	0	ATP6 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Atrial tachyarrhythmia, infra-hisian cardiac conduction disease	Cardiac conduction disease	1	1	TNNI3K (3)	0.10000	1.00000	5.845e-4	1.135e-3	3
Atrophia bulborum heritaria	Exudative vitreoretinopathy	1	1	NDP (4)	0.10000	1.00000	5.845e-4	1.135e-3	
autosomal recessive cutis laxa type 2A	Benign pemphigus	1	1	ATP6V0A2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
autosomal recessive cutis laxa type 2A	Darier disease	1	1	ATP6V0A2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
autosomal recessive cutis laxa type 2B	Benign pemphigus	1	1	PYCR1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	94
autosomal recessive cutis laxa type 2B	Darier disease	1	1	PYCR1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	94
autosomal recessive cutis laxa type 2C	Benign pemphigus	1	1	ATP6V1E1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	94
autosomal recessive cutis laxa type 2C	Darier disease	1	1	ATP6V1E1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	94
autosomal recessive cutis laxa type 2D	Benign pemphigus	1	1	ATP6V1A (2)	0.10000	1.00000	5.845e-4	1.135e-3	94
autosomal recessive cutis laxa type 2D	Darier disease	1	1	ATP6V1A (2)	0.10000	1.00000	5.845e-4	1.135e-3	94
Bartter disease type 2	Bartter syndrome	1	1	KCNJ1 (7)	0.10000	1.00000	5.845e-4	1.135e-3	410
Bartter disease type 4A	Bartter syndrome	1	1	BSND (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Bartter disease type 5	Bartter syndrome	1	1	MAGED2 (6)	0.10000	1.00000	5.845e-4	1.135e-3	410
Bartter syndrome	renal tubular dysgenesis of genetic origin	1	1	REN (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Bartter syndrome	familial juvenile hyperuricemic nephropathy type 2	1	1	REN (3)	0.10000	1.00000	5.845e-4	1.135e-3	
Cardiac-urogenital syndrome	Synovitis	1	1	MYRF (7)	0.10000	1.00000	5.845e-4	1.135e-3	
Cardiac-urogenital syndrome	Urogenital abnormalities	1	1	MYRF (6)	0.10000	1.00000	5.845e-4	1.135e-3	
Cardiac conduction disease	Cardiogenetic disease	1	1	CACNB2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Cardiogenetic disease	Congenital esophageal anomaly	1	1	CACNB2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
cenani-lenz syndactyly syndrome	Maffucci syndrome	1	1	LRP4 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Central hypothyroidism	Imperforate anus	1	0	ROBO1 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Central hypothyroidism	Pituitary hormone deficiency	1	1	ROBO1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	Haddad syndrome	1	1	PHOX2B (2)	0.10000	1.00000	5.845e-4	1.135e-3	331
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	Congenital central hypoventilation syndrome	1	1	PHOX2B (4)	0.10000	1.00000	5.845e-4	1.135e-3	331
Central retinal vein occlusion	Disseminated intravascular coagulation	1	1	PROC (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Charcot-Marie-Tooth disease type 2A1	Congenital joint contractures	1	1	KIF1B (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Charcot-Marie-Tooth disease type 4C	Congenital joint contractures	1	1	SH3TC2 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Charge syndrome	Intellectual developmental disorder dysmorphic cardiac short stature	1	1	PUF60 (2)	0.10000	1.00000	5.845e-4	1.135e-3	370
Cholestasis-pigmentary retinopathy-cleft palate syndrome	Imperforate anus	1	1	MED12 (2)	0.10000	1.00000	5.845e-4	1.135e-3	
Chondrosarcoma	Collagenopathy	1	1	COL2A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	15
Chondrosarcoma	Coxa plana	1	1	COL2A1 (2)	0.10000	1.00000	5.845e-4	1.135e-3	15
Chondrosarcoma	Czech dysplasia	1	1	COL2A1 (3)	0.10000	1.00000	5.845e-4	1.135e-3	15
Chondrosarcoma	Dysspondyloenchondromatosis	1	1	COL2A1 (4)	0.10000	1.00000	5.845e-4	1.135e-3	15
Chromosome 22q11.2 deletion syndrome	Pulmonary alveolar proteinosis	1	0	ABCA3 (1)	0.10000	1.00000	5.845e-4	1.135e-3	
Bryant-li-bhoj neurodevelopmental syndrome	Global developmental delay	2	2	H3-3B (4), H3-3A (4)	0.00539	1.00000	5.759e-4	1.135e-3	
Biliary atresia	Uremia	2	2	SPP1 (2), ICAM1 (2)	0.04167	0.11111	5.882e-4	1.142e-3	
Hoarding disorder	Mastocytosis	2	0	CEBPA (1), SLC7A10 (1)	0.04255	0.10000	5.937e-4	1.153e-3	
Corneal astigmatism	Emphysema	3	0	PPARGC1A (1), DHX15 (1), PARD3 (1)	0.02857	0.08333	6.014e-4	1.168e-3	
Conduct disorder	Sarcopenia	2	0	PTPRD (1), DMAC1 (1)	0.03226	0.18182	6.034e-4	1.172e-3	
Bladder exstrophy	Bladder exstrophy and epispadias complex	2	2	TP63 (2), ISL1 (3)	0.04255	0.09524	6.092e-4	1.183e-3	30
Intracranial aneurysm	Vesicoureteral reflux	2	2	ENG (2), SOX17 (6)	0.03846	0.13333	6.102e-4	1.185e-3	
Brain infarction	Hemophilia a	2	1	HLA-DQA1 (1), PLAT (2)	0.03922	0.12500	6.247e-4	1.213e-3	
Bilateral microphthalmos	Hallermanns syndrome	1	0	GJA1 (1)	0.14286	0.50000	6.494e-4	1.219e-3	107
Bilateral microphthalmos	Schwartz-lelek syndrome	1	0	GJA1 (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Birdshot chorioretinopathy	Parapsoriasis	1	1	HLA-A (3)	0.14286	0.50000	6.494e-4	1.219e-3	179
Blepharitis	Respiratory system neoplasm	1	0	MC1R (1)	0.14286	0.50000	6.494e-4	1.219e-3	1
Blepharophimosis intellectual disability syndrome	Intellectual developmental disorder speech dysmorphic	1	1	SMARCA2 (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Bloom syndrome	Dysfibrinogenemia	1	1	UNG (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Boichis syndrome	Coach syndrome	1	1	TMEM67 (5)	0.14286	0.50000	6.494e-4	1.219e-3	315
Bronchiolitis obliterans	Polymyalgia rheumatica	1	0	MBL2 (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Bronchus cancer	Cri-du-chat syndrome	1	1	TERT (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Calcium pyrophosphate deposition	Paget disease	1	1	TNFRSF11B (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Capillary leak syndrome	Constipation	1	1	PON1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Capillary leak syndrome	Hematologic neoplasms	1	1	PON1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Congenital hereditary endothelial dystrophy	Polymorphous corneal dystrophy	1	1	OVOL2 (2)	0.14286	0.50000	6.494e-4	1.219e-3	87
Congenital hereditary endothelial dystrophy	Posterior polymorphous corneal dystrophy	1	1	OVOL2 (4)	0.14286	0.50000	6.494e-4	1.219e-3	87
Congenital isolated growth hormone deficiency	Growth hormone-secreting pituitary adenoma	1	1	GH1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Congenital mesoblastic nephroma	Thrombocytopenia with normal platelets	1	1	ETV6 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Congenital mesoblastic nephroma	Hematologic neoplasms	1	1	ETV6 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Congenital ptosis	Intellectual developmental disorder autism dysmorphic	1	1	CHD8 (4)	0.14286	0.50000	6.494e-4	1.219e-3	280
Cataract-intellectual disability-hypogonadism syndrome	Congenital ptosis	1	1	RAB3GAP1 (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Congenital short qt syndrome	Haploinsufficiency	1	1	KCNH2 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Congenital diarrhea	Congenital sodium diarrhea	1	1	GUCY2C (4)	0.14286	0.50000	6.494e-4	1.219e-3	275
Cri-du-chat syndrome	Respiratory system cancer	1	1	TERT (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Autoimmune hemolytic anemia	Degenerative polyarthritis	1	0	TLR8 (1)	0.14286	0.50000	6.494e-4	1.219e-3	330
Chilblain lupus erythematosus	Deoxyguanosine kinase deficiency	1	1	SAMHD1 (5)	0.14286	0.50000	6.494e-4	1.219e-3	159
Diabetes macrovascular complications	Factor v deficiency	1	1	F5 (5)	0.14286	0.50000	6.494e-4	1.219e-3	84
Diaphyseal bone disorder	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	1	1	TGFB1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Cyanosis	Dihydrolipoamide dehydrogenase deficiency	1	1	CYB5R3 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Disseminated superficial actinic porokeratosis	Mevalonate kinase deficiency	1	1	MVK (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Dopamine beta-hydroxy­lase deficiency	Hematologic neoplasms	1	1	HSPA5 (2)	0.14286	0.50000	6.494e-4	1.219e-3	120
Duane-radial ray syndrome	Oculopalatosekeletal syndrome	1	1	SALL4 (6)	0.14286	0.50000	6.494e-4	1.219e-3	
17p13.3 microduplication syndrome	Endometrial stromal sarcoma	1	1	YWHAE (2)	0.14286	0.50000	6.494e-4	1.219e-3	225
Acetyl-coa acetyltransferase deficiency	Carbohydrate metabolism disorder	1	1	ACAT1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Acid-base disorder	Respiratory system neoplasm	1	0	ADH1B (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Andersen-tawil syndrome	Congenital short qt syndrome	1	1	KCNJ2 (5)	0.14286	0.50000	6.494e-4	1.219e-3	
Angiocentric glioma	Hemoglobin e disease	1	1	MYB (2)	0.14286	0.50000	6.494e-4	1.219e-3	18
Angiomatoid fibrous histiocytoma	Ewing sarcoma	1	1	EWSR1 (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Angiomatoid fibrous histiocytoma	Extraskeletal myxoid chondrosarcoma	1	0	EWSR1 (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Angiomatoid fibrous histiocytoma	Skeletal ewing sarcoma	1	0	EWSR1 (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Colobomatous optic disc macular atrophy chorioretinopathy syndrome	Retinoschisis	1	1	C14orf39 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Colonic polyps	Immune system disorder	1	1	TRPM7 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Cone-rod synaptic disorder	Ocular albinism	1	1	CABP4 (4)	0.14286	0.50000	6.494e-4	1.219e-3	384
Congenital diarrhea	Congenital epithelial dysplasia of intestine	1	1	EPCAM (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Cardiofacial dysplasia	Male breast carcinoma	1	1	PRKACB (4)	0.14286	0.50000	6.494e-4	1.219e-3	38
Cerebellar malformation	Coach syndrome	1	1	TMEM67 (5)	0.14286	0.50000	6.494e-4	1.219e-3	315
Chediak-higashi syndrome	Facioscapulohumeral muscular dystrophy	1	1	SMCHD1 (5)	0.14286	0.50000	6.494e-4	1.219e-3	324
Childhood-onset spinal muscular atrophy	Rhizomelic chondrodysplasia punctata	1	1	DYNC1H1 (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Cholesteatoma	Vaginal neoplasms	1	1	IL2 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Cholesteatoma	Coagulation factor deficiency syndrome	1	0	F13B (1)	0.14286	0.50000	6.494e-4	1.219e-3	354
Cholesteatoma	Congenital factor xiii deficiency	1	1	F13B (3)	0.14286	0.50000	6.494e-4	1.219e-3	354
Chorioretinal atrophy	Choroideremia	1	1	CHM (7)	0.14286	0.50000	6.494e-4	1.219e-3	
Choroidal dystrophy	Choroideremia	1	1	PRPH2 (5)	0.14286	0.50000	6.494e-4	1.219e-3	69
Choroidal sclerosis	Choroideremia	1	0	PRPH2 (1)	0.14286	0.50000	6.494e-4	1.219e-3	69
Arthralgia	Disseminated superficial actinic porokeratosis	1	1	MVK (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Ataxia with oculomotor apraxia	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	1	1	LAMA1 (4)	0.14286	0.50000	6.494e-4	1.219e-3	
Ataxia with oculomotor apraxia	Dna repair-deficiency disorders	1	1	PNKP (6)	0.14286	0.50000	6.494e-4	1.219e-3	
Auditory perceptual disorder	Polymorphous corneal dystrophy	1	1	VSX1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	87
Auditory perceptual disorder	Posterior polymorphous corneal dystrophy	1	1	VSX1 (5)	0.14286	0.50000	6.494e-4	1.219e-3	87
Autoinflammation with infantile enterocolitis	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome	1	1	RIPK1 (4)	0.14286	0.50000	6.494e-4	1.219e-3	264
autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Hyperuricemic nephropathy	1	1	UMOD (2)	0.14286	0.50000	6.494e-4	1.219e-3	97
Hyperkalemia	Urinary bladder diseases	1	1	INS (2)	0.14286	0.50000	6.494e-4	1.219e-3	224
22q13 monosomy syndrome	Urinary bladder diseases	1	1	INS (2)	0.14286	0.50000	6.494e-4	1.219e-3	224
Common arterial trunk with aortic dominance	Velocardiofacial syndrome	1	1	TBX1 (4)	0.14286	0.50000	6.494e-4	1.219e-3	290
Common arterial trunk with pulmonary dominance and interrupted aortic arch	Velocardiofacial syndrome	1	1	TBX1 (4)	0.14286	0.50000	6.494e-4	1.219e-3	290
Arachnodactyly	Visual system disorder	1	1	EFEMP1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Ocular albinism	X-linked ocular abinism	1	1	GPR143 (5)	0.14286	0.50000	6.494e-4	1.219e-3	
Xeroderma pigmentosum-cockayne syndrome	Xfe progeroid syndrome	1	1	ERCC4 (6)	0.14286	0.50000	6.494e-4	1.219e-3	
Paroxysmal dyskinesia	Seizures, tonic-clonic, photosensitive	1	1	KCNJ10 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Coach syndrome	Senior-boichis syndrome	1	1	TMEM67 (6)	0.14286	0.50000	6.494e-4	1.219e-3	315
12q14 microdeletion syndrome	Tietz syndrome	1	1	LEMD3 (3)	0.14286	0.50000	6.494e-4	1.219e-3	143
Central areolar choroidal dystrophy	Dyschromatopsia	1	0	EYS (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Dyshidrosis	Sweat gland disease	1	0	TCERG1L (1)	0.14286	0.50000	6.494e-4	1.219e-3	340
Dysphonia	Paroxysmal dyskinesia	1	1	COMT (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Dysphonia	Ptosis	1	0	TWNK (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Desmoplastic small round cell tumor	Ewing sarcoma	1	1	EWSR1 (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Desmoplastic small round cell tumor	Extraskeletal myxoid chondrosarcoma	1	0	EWSR1 (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Cholesteatoma	Factor xiii deficiency	1	1	F13B (6)	0.14286	0.50000	6.494e-4	1.219e-3	354
Growth hormone-secreting pituitary adenoma	Pituitary gigantism	1	1	AIP (2)	0.14286	0.50000	6.494e-4	1.219e-3	235
Post-operative atrial fibrillation	Usher syndrome type 2	1	1	ADGRV1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
qualitative platelet defect	Tietz syndrome	1	1	ABCC4 (2)	0.14286	0.50000	6.494e-4	1.219e-3	143
Refsum disease	Rhizomelic chondrodysplasia punctata	1	1	PEX7 (7)	0.14286	0.50000	6.494e-4	1.219e-3	
Nephrotic syndrome, focal segmental type	Renal hypoplasia	1	0	PAX2 (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Autoimmune pancreatitis	Respiratory system neoplasm	1	1	HLA-DQB1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	1
Respiratory system neoplasm	Tongue cancer	1	0	HLA-DQB1 (1)	0.14286	0.50000	6.494e-4	1.219e-3	1
Respiratory system neoplasm	Wernicke-korsakoff syndrome	1	1	ADH1B (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Retinal cone dystrophy	Vitreoretinochoroidopathy	1	1	BEST1 (5)	0.14286	0.50000	6.494e-4	1.219e-3	
46,xx sex reversal	Genetic panhypopituitarism	1	1	SOX3 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Autoimmune hemolytic anemia	Haploinsufficiency	1	0	CTLA4 (1)	0.14286	0.50000	6.494e-4	1.219e-3	
Familial mediterranean fever	Hematologic neoplasms	1	1	ABCB1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	120
Hemiplegia	Paroxysmal ventricular fibrillation	1	1	DPP6 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Benign neonatal-infantile seizures	Hemiplegia	1	1	SCN2A (2)	0.14286	0.50000	6.494e-4	1.219e-3	213
Hemiplegia	Woodhouse sakati syndrome	1	1	METTL8 (2)	0.14286	0.50000	6.494e-4	1.219e-3	213
Ectopic rhythm	Hereditary ataxia	1	1	KCND3 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Hereditary hyperekplexia	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	1	1	GPHN (3)	0.14286	0.50000	6.494e-4	1.219e-3	322
Normal pressure hydrocephalus	Ptosis	1	0	PMPCA (1)	0.14286	0.50000	6.494e-4	1.219e-3	158
Cone-rod dystrophy, x-linked	Ocular albinism	1	1	CACNA1F (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Oculoauricular syndrome	Oculopalatosekeletal syndrome	1	1	FADD (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Oculopharyngeal muscular dystrophy	Vacuolar myopathy	1	1	HNRNPA2B1 (4)	0.14286	0.50000	6.494e-4	1.219e-3	
Paget disease	Welander distal myopathy	1	1	SQSTM1 (4)	0.14286	0.50000	6.494e-4	1.219e-3	
Hyperkalemia	Paresthesia	1	1	INS (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Immune system disorder	Parkinson-dementia complex of guam	1	1	TRPM7 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Arachnodactyly	Perisylvian polymicrogyria	1	0	NSDHL (1)	0.14286	0.50000	6.494e-4	1.219e-3	398
Butterfly-shaped pigmentary macular dystrophy	Malignant peripheral nerve sheath tumor	1	1	HTRA1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Butterfly-shaped pigmentary macular dystrophy	Malignant triton tumor	1	1	HTRA1 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Deletion 5q35 syndrome	Myotonic dystrophy	1	1	NKX2-5 (2)	0.14286	0.50000	6.494e-4	1.219e-3	166
Congenital asplenia	Myotonic dystrophy	1	1	NKX2-5 (3)	0.14286	0.50000	6.494e-4	1.219e-3	166
Neural tube defects, susceptibility to	Sacral defect	1	1	VANGL1 (5)	0.14286	0.50000	6.494e-4	1.219e-3	109
Dilatation of pulmonary artery	Hyperandrogenism	1	1	BMPR2 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Hyperekplexia	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	1	1	GPHN (3)	0.14286	0.50000	6.494e-4	1.219e-3	322
Intestinal hypomagnesemia	Magnesium metabolism disorder	1	1	TRPM6 (3)	0.14286	0.50000	6.494e-4	1.219e-3	359
Congenital short qt syndrome	Jervell and lange-nielsen syndrome	1	1	KCNQ1 (7)	0.14286	0.50000	6.494e-4	1.219e-3	
Cerebral saccular aneurysm	juvenile polyposis syndrome	1	1	ENG (3)	0.14286	0.50000	6.494e-4	1.219e-3	
Cantu syndrome	Kleefstra syndrome	1	1	ABCC9 (4)	0.14286	0.50000	6.494e-4	1.219e-3	234
Bronchus cancer	Large cell carcinoma	1	1	CYP2A6 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Large cell carcinoma	Respiratory system cancer	1	1	CYP2A6 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Littles disease	Seizures, tonic-clonic, photosensitive	1	1	KCNJ10 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Immune system disorder	macrothrombocytopenia, isolated	1	1	TRPM7 (2)	0.14286	0.50000	6.494e-4	1.219e-3	
macrothrombocytopenia, isolated	Vacuolar myopathy	1	1	GNE (2)	0.14286	0.50000	6.494e-4	1.219e-3	
Apraxia	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	1	1	POGZ (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	1	1	POGZ (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Berylliosis	Interleukin 2 receptor deficiency	1	1	IL2RA (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Intermittent porphyria	Porphyria	1	1	HMBS (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Endometrial hyperplasia	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	1	1	CDKN1C (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Beckwith-wiedemann syndrome	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	1	1	CDKN1C (7)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital skin anomaly	IRF6-related condition	1	1	IRF6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
IRF6-related condition	Skin abnormalities	1	1	IRF6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
IRIDA syndrome	Iron deficiency anemia	1	1	TMPRSS6 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Craniodiaphyseal dysplasia	Juvenile myoclonic epilepsy	1	1	CILK1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Esotropia	kbg syndrome	1	1	ANKRD11 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Hypertensive heart disease	Lafora body disease	1	1	PRDM8 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Laryngeal carcinoma	Wagner syndrome	1	1	VCAN (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Laryngeal carcinoma	Wagner disease	1	1	VCAN (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Laryngeal carcinoma	microcephalic primordial dwarfism due to RTTN deficiency	1	1	RTTN (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Epiphyseal dysplasia	Laryngeal hypoplasia	1	0	FOXP4 (1)	0.09091	1.00000	6.494e-4	1.219e-3	308
LIPE-related familial partial lipodystrophy	Partial lipodystrophy	1	1	LIPE (2)	0.09091	1.00000	6.494e-4	1.219e-3	79
Congenital skin anomaly	geroderma osteodysplastica	1	1	GORAB (2)	0.09091	1.00000	6.494e-4	1.219e-3	396
geroderma osteodysplastica	Skin abnormalities	1	1	GORAB (2)	0.09091	1.00000	6.494e-4	1.219e-3	396
Gilbert syndrome	Serum bilirubin level	1	1	UGT1A1 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Growth hormone deficiency with pituitary anomalies	Septo-optic dysplasia	1	1	HESX1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	273
dyskeratosis congenita, autosomal dominant 2	Head and neck cancer	1	1	TERT (2)	0.09091	1.00000	6.494e-4	1.219e-3	1
Angiofollicular ganglionic hyperplasia	Headache	1	1	IL6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	248
Angiolymphoid hyperplasia	Headache	1	1	IL6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	248
Castleman disease	Headache	1	0	IL6 (1)	0.09091	1.00000	6.494e-4	1.219e-3	248
Deafness, x-linked	hearing loss, X-linked 6	1	1	COL4A6 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
hearing loss, X-linked 6	Leiomyoma	1	1	COL4A6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	91
Hengel maroofian schols syndrome	Ureterolithiasis	1	1	BCAS3 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Hepatoerythropoietic porphyria	Porphyria	1	1	UROD (6)	0.09091	1.00000	6.494e-4	1.219e-3	
hereditary spherocytosis	Spherocytosis	1	1	ANK1 (4)	0.09091	1.00000	6.494e-4	1.219e-3	271
Deep vein thrombosis	hereditary thrombophilia due to congenital protein C deficiency	1	1	PROC (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Dwarfism	SIN3A-related intellectual disability syndrome	1	1	SIN3A (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Dwarfism	Microcephalic dwarfism	1	1	DNMT3A (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Delirium	Dysbetalipoproteinemia	1	1	APOE (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Ehlers-Danlos syndrome, spondylocheirodysplastic type	Tooth abnormalities	1	1	SLC39A13 (2)	0.09091	1.00000	6.494e-4	1.219e-3	344
Endometrioid carcinoma	Pleural diseases	1	1	MSLN (2)	0.09091	1.00000	6.494e-4	1.219e-3	12
Epidermolysis bullosa simplex	Tongue neoplasms	1	1	KRT14 (3)	0.09091	1.00000	6.494e-4	1.219e-3	270
Erythrokeratodermia variabilis	Palmoplantar keratoderma with congenital alopecia	1	1	GJA1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	107
Erythrokeratodermia variabilis	mednik syndrome	1	1	AP1S1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Erythrokeratodermia variabilis	Peripheral neuropathy with sensorineural hearing impairment syndrome	1	1	GJB3 (7)	0.09091	1.00000	6.494e-4	1.219e-3	
Erythrokeratodermia variabilis	ichthyosiform erythroderma, corneal involvement, and hearing loss	1	1	AP1B1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Erythrokeratodermia variabilis	erythrokeratodermia variabilis et progressiva 4	1	1	KDSR (7)	0.09091	1.00000	6.494e-4	1.219e-3	107
Collagenopathy	Eye disorder	1	1	COL2A1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	15
Coxa plana	Eye disorder	1	0	COL2A1 (1)	0.09091	1.00000	6.494e-4	1.219e-3	15
Culler-jones syndrome	Facial dysmorphism syndrome	1	1	GLI2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	169
Facial dysmorphism syndrome	Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	1	1	GLI2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	169
Facial dysmorphism syndrome	Preaxial polydactyly with upper back hypertrichosis	1	1	SHH (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Facial dysmorphism syndrome	Skeletal system disorder	1	1	SHH (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Facial dysmorphism syndrome	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	1	1	KCNK4 (6)	0.09091	1.00000	6.494e-4	1.219e-3	169
Familial partial lipodystrophy	Partial lipodystrophy	1	1	CIDEC (4)	0.09091	1.00000	6.494e-4	1.219e-3	
focal segmental glomerulosclerosis 4, susceptibility to	Hypertensive heart disease	1	1	APOL1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	313
Eye disorder	frontotemporal dementia and/or amyotrophic lateral sclerosis 1	1	1	C9orf72 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Hypertensive heart disease	Trichomegaly	1	1	FGF5 (5)	0.09091	1.00000	6.494e-4	1.219e-3	313
Chromosome 8p23.1 monosomy	Tricuspid valve disease	1	0	GATA4 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital pulmonary valve atresia	Tricuspid valve disease	1	0	GATA4 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Martsolf syndrome	TUBB3-related tubulinopathy	1	1	TUBB3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Peritoneal neoplasms	tubulointerstitial kidney disease, autosomal dominant, 2	1	1	MUC1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	Turricephaly	1	0	ZIC1 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	TWIST1-related craniosynostosis	1	1	TWIST1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	250
Delirium	Tyrosine hydroxylase deficiency	1	1	TH (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Tooth abnormalities	Ulnar-mammary syndrome	1	1	TBX3 (6)	0.09091	1.00000	6.494e-4	1.219e-3	344
Porphyria	UROD-related inherited porphyria	1	1	UROD (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Headache	Vitamin e deficiency	1	1	TTPA (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Tricuspid valve disease	Waardenburg syndrome type 4B	1	1	EDN3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Septo-optic dysplasia	Webb-dattani syndrome	1	1	ARNT2 (6)	0.09091	1.00000	6.494e-4	1.219e-3	273
Perisylvian syndrome	Wolfram-like syndrome	1	1	WFS1 (7)	0.09091	1.00000	6.494e-4	1.219e-3	
Swyer syndrome	X-linked adrenal hypoplasia congenita	1	1	NR0B1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Septo-optic dysplasia	X-linked congenital generalized hypertrichosis	1	1	SOX3 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Porphyria	X-linked erythropoietic protoporphyria	1	1	ALAS2 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Deafness, x-linked	X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	1	1	GPRASP2 (4)	0.09091	1.00000	6.494e-4	1.219e-3	68
Deafness, x-linked	X-linked hereditary sensory and autonomic neuropathy with deafness	1	1	AIFM1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Deafness, x-linked	X-linked hereditary sensory and autonomic neuropathy with hearing loss	1	1	AIFM1 (6)	0.09091	1.00000	6.494e-4	1.219e-3	
Omenn syndrome	X-linked severe combined immunodeficiency	1	1	IL2RG (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital skin anomaly	xeroderma pigmentosum group D	1	1	ERCC2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Skin abnormalities	xeroderma pigmentosum group D	1	1	ERCC2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Ectrodactyly	Sebaceous gland neoplasms	1	1	LEF1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Omenn syndrome	severe combined immunodeficiency due to DCLRE1C deficiency	1	1	DCLRE1C (5)	0.09091	1.00000	6.494e-4	1.219e-3	176
Omenn syndrome	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	1	1	ADA (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Headache	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	1	1	SLC10A7 (2)	0.09091	1.00000	6.494e-4	1.219e-3	248
Saldino-noonan syndrome	short-rib thoracic dysplasia 11 with or without polydactyly	1	1	DYNC2I2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	19
Craniodiaphyseal dysplasia	short-rib thoracic dysplasia 16 with or without polydactyly	1	1	IFT52 (3)	0.09091	1.00000	6.494e-4	1.219e-3	19
Saldino-noonan syndrome	short-rib thoracic dysplasia 17 with or without polydactyly	1	1	DYNLT2B (2)	0.09091	1.00000	6.494e-4	1.219e-3	19
Craniodiaphyseal dysplasia	short-rib thoracic dysplasia 7 with or without polydactyly	1	1	WDR35 (6)	0.09091	1.00000	6.494e-4	1.219e-3	
Saldino-noonan syndrome	short-rib thoracic dysplasia 8 with or without polydactyly	1	1	DYNC2I1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	19
Beckwith-wiedemann syndrome	silver-russell syndrome 3	1	1	IGF2 (6)	0.09091	1.00000	6.494e-4	1.219e-3	
Acro-dermo-ungual-lacrimal-tooth syndrome	Skin abnormalities	1	1	TP63 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Delirium	SLC6A3-related dopamine transporter deficiency syndrome	1	1	SLC6A3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Septo-optic dysplasia	SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	1	1	SOX3 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Epiphyseal dysplasia	Stickler syndrome, type 4	1	1	COL9A1 (6)	0.09091	1.00000	6.494e-4	1.219e-3	308
Brachycephaly	Sweeney-cox syndrome	1	1	TWIST1 (4)	0.09091	1.00000	6.494e-4	1.219e-3	250
Omenn syndrome	T-B+ severe combined immunodeficiency due to gamma chain deficiency	1	1	IL2RG (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Goldenhar syndrome	T-cell immunodeficiency	1	1	FOXI3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Dwarfism	Tatton-Brown-Rahman overgrowth syndrome	1	1	DNMT3A (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	TCF12-related craniosynostosis	1	1	TCF12 (2)	0.09091	1.00000	6.494e-4	1.219e-3	250
Swyer syndrome	Testicular regression syndrome	1	0	DHX37 (1)	0.09091	1.00000	6.494e-4	1.219e-3	149
Iron deficiency anemia	TFRC-related combined immunodeficiency	1	1	TFRC (3)	0.09091	1.00000	6.494e-4	1.219e-3	245
Myelomonocytic leukemia	thrombocytopenia 5	1	1	ETV6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Cataract-corneal dystrophy syndrome	Tooth abnormalities	1	1	PAX6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
PAX6-related ocular dysgenesis	Tooth abnormalities	1	1	PAX6 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Ring dermoid of cornea	Tooth abnormalities	1	1	PITX2 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Carbohydrate metabolism disease	Transaldolase deficiency	1	1	TALDO1 (6)	0.09091	1.00000	6.494e-4	1.219e-3	371
Partial lipodystrophy	PLIN1-related familial partial lipodystrophy	1	1	PLIN1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	79
Facial dysmorphism syndrome	POLE-related polyposis and colorectal cancer syndrome	1	1	POLE (7)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital skin anomaly	Popliteal pterygium syndrome	1	1	IRF6 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Popliteal pterygium syndrome	Skin abnormalities	1	1	IRF6 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Porphyria	porphyria due to ALA dehydratase deficiency	1	1	ALAD (6)	0.09091	1.00000	6.494e-4	1.219e-3	
Postaxial acrofacial dysostosis	Spherocytosis	1	1	DHODH (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Hypertensive heart disease	PRKAG2-related cardiomyopathy	1	1	PRKAG2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Hypertensive heart disease	Progressive myoclonic epilepsy with intracellular inclusions	1	1	PRDM8 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Headache	Prostatic disease	1	1	OXT (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Deep vein thrombosis	protein S deficiency	1	1	PROS1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Porphyria	protoporphyria, erythropoietic, 1	1	1	FECH (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Omenn syndrome	recombinase activating gene 1 deficiency	1	1	RAG1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	176
Omenn syndrome	recombinase activating gene 2 deficiency	1	1	RAG2 (5)	0.09091	1.00000	6.494e-4	1.219e-3	176
Dwarfism	heyn-sproul-jackson syndrome	1	1	DNMT3A (3)	0.09091	1.00000	6.494e-4	1.219e-3	
hyperinsulinemic hypoglycemia, familial, 2	monogenic diabetes	1	0	KCNJ11 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Hyperthermia	Iron deficiency anemia	1	1	GPX1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	245
Hypochromic anemia	Iron deficiency anemia	1	1	SLC11A2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
hypogonadotropic hypogonadism 1 with or without anosmia	Martsolf syndrome	1	1	ANOS1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
hypogonadotropic hypogonadism 3 with or without anosmia	Septo-optic dysplasia	1	1	PROKR2 (4)	0.09091	1.00000	6.494e-4	1.219e-3	273
hypoinsulinemic hypoglycemia and body hemihypertrophy	Partial lipodystrophy	1	1	AKT2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Hypophosphatasia	Ureterolithiasis	1	1	ALPL (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Deep vein thrombosis	hypoplasminogenemia	1	1	PLG (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Craniodiaphyseal dysplasia	IFT140-related recessive ciliopathy	1	1	IFT140 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
immunodeficiency 121 with autoinflammation	Omenn syndrome	1	1	PSMB10 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Berylliosis	immunodeficiency 123 with hpv-related verrucosis	1	1	CD28 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Berylliosis	immunodeficiency due to CD25 deficiency	1	1	IL2RA (2)	0.09091	1.00000	6.494e-4	1.219e-3	
immunodeficiency, developmental delay, and hypohomocysteinemia	Keratosis	1	1	NFE2L2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
immunodeficiency, developmental delay, and hypohomocysteinemia	Vascular system injury	1	1	NFE2L2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Apraxia	Intellectual developmental disorder microcephaly strabismus behaviora	1	1	POGZ (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	Intellectual developmental disorder microcephaly strabismus behaviora	1	1	POGZ (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Angelman syndrome	oculocutaneous albinism type 2	1	1	OCA2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Other specified diabetes mellitus with unspecified complications	Perisylvian syndrome	1	0	WFS1 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Goldenhar syndrome	otofaciocervical syndrome 2	1	1	PAX1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
monogenic diabetes	pancreatic agenesis 1	1	0	PDX1 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Paraneoplastic syndrome	Porphyria	1	1	EPO (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Perinatal disease	Serum bilirubin level	1	1	UGT1A1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Perinatal hemolytic anemia	Spherocytosis	1	1	SPTB (3)	0.09091	1.00000	6.494e-4	1.219e-3	271
11p partial monosomy syndrome	Peritoneal neoplasms	1	1	WT1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	86
Denys drash syndrome	Peritoneal neoplasms	1	1	WT1 (6)	0.09091	1.00000	6.494e-4	1.219e-3	86
Drash syndrome	Peritoneal neoplasms	1	1	WT1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	86
denys-drash syndrome	Peritoneal neoplasms	1	1	WT1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	86
Peritoneal neoplasms	wilms tumor 1	1	1	WT1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	86
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Perisylvian syndrome	1	1	CCND2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Iron deficiency anemia	microcytic anemia with liver iron overload	1	1	SLC11A2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Micromelia	Ureterolithiasis	1	1	ALPL (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	microphthalmia, syndromic 2	1	1	BCOR (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Childhood absence epilepsy	Minor epilepsy	1	0	NPY (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Carbohydrate metabolism disease	MPI-congenital disorder of glycosylation	1	1	MPI (2)	0.09091	1.00000	6.494e-4	1.219e-3	371
Ectrodactyly	myopathy, centronuclear, 6, with fiber-type disproportion	1	1	MAP3K20 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Childhood absence epilepsy	Nasal obstruction	1	1	NPY (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Neonatal anemia	Spherocytosis	1	1	SPTB (3)	0.09091	1.00000	6.494e-4	1.219e-3	271
Apraxia	Intellectual developmental disorder hemoglobin persistence	1	1	BCL11A (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Apraxia	Childhood apraxia of speech	1	1	FOXP2 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Apraxia	Cataplexy	1	0	NPC1 (1)	0.09091	1.00000	6.494e-4	1.219e-3	231
Apraxia	Niemann-Pick disease, type C1	1	1	NPC1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	231
Apraxia	developmental delay with variable intellectual disability and dysmorphic facies	1	1	JARID2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
asphyxiating thoracic dystrophy 3	Saldino-noonan syndrome	1	1	DYNC2H1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
atransferrinemia	Iron deficiency anemia	1	1	TF (2)	0.09091	1.00000	6.494e-4	1.219e-3	245
Atrophoderma vermiculata	Common migraine	1	1	LRP1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	247
Atrophy	Hyper-ige syndrome	1	1	STAT3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	167
Atrophy	Lymphoproliferative disorder of natural killer cells	1	1	STAT3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	167
Atrophy	STAT3-related early-onset multisystem autoimmune disease	1	1	STAT3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	167
Atrophy	hyper-IgE recurrent infection syndrome 1, autosomal dominant	1	1	STAT3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	167
Atypical absence epilepsy	Childhood absence epilepsy	1	0	NPY (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Atypical fanconi syndrome	monogenic diabetes	1	1	HNF4A (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Autoimmune uveitis	Delirium	1	0	CXCL8 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Autoimmune uveitis	Esotropia	1	1	CXCL8 (2)	0.09091	1.00000	6.494e-4	1.219e-3	43
autosomal dominant cerebellar ataxia, deafness and narcolepsy	Beckwith-wiedemann syndrome	1	1	DNMT1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
autosomal recessive osteopetrosis 2	Bone resorption	1	1	TNFSF11 (2)	0.09091	1.00000	6.494e-4	1.219e-3	259
Avoidant restrictive food intake disorder	Delirium	1	1	APOE (3)	0.09091	1.00000	6.494e-4	1.219e-3	
bartsocas-papas syndrome 2	Congenital skin anomaly	1	1	CHUK (2)	0.09091	1.00000	6.494e-4	1.219e-3	
bartsocas-papas syndrome 2	Skin abnormalities	1	1	CHUK (2)	0.09091	1.00000	6.494e-4	1.219e-3	
BBS10-related ciliopathy	Saldino-noonan syndrome	1	1	BBS10 (2)	0.09091	1.00000	6.494e-4	1.219e-3	19
Beckwith-wiedemann syndrome	Hemihyperplasia	1	1	IGF2 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Beckwith-Wiedemann syndrome due to CDKN1C mutation	Endometrial hyperplasia	1	1	CDKN1C (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Beckwith-wiedemann syndrome	Beckwith-Wiedemann syndrome due to CDKN1C mutation	1	1	CDKN1C (8)	0.09091	1.00000	6.494e-4	1.219e-3	
Cutaneous polyarteritis nodosa	Leiomyoma	1	1	SMAD3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Dermatopathia pigmentosa reticularis	Tongue neoplasms	1	1	KRT14 (6)	0.09091	1.00000	6.494e-4	1.219e-3	270
Desanto-shinawi syndrome	Facial dysmorphism syndrome	1	1	WAC (7)	0.09091	1.00000	6.494e-4	1.219e-3	169
desbuquois dysplasia 1	Epiphyseal dysplasia	1	1	CANT1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
developmental and epileptic encephalopathy, 50	Spherocytosis	1	1	CAD (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Developmental delay with immunodeficiency syndrome	Keratosis	1	1	NFE2L2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Developmental delay with immunodeficiency syndrome	Vascular system injury	1	1	NFE2L2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	monogenic diabetes	1	1	KCNJ11 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Atrophy	Dicarboxylic aminoaciduria	1	1	SLC1A1 (6)	0.09091	1.00000	6.494e-4	1.219e-3	
Atrophy	Dicarboxylicaminoaciduria	1	1	SLC1A1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Dna ligase iv deficiency	Omenn syndrome	1	1	LIG4 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum	Dwarfism	1	1	DONSON (2)	0.09091	1.00000	6.494e-4	1.219e-3	175
Delirium	Dopamine transporter deficiency syndrome	1	1	SLC6A3 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Dosage-sensitive sex reversal	Swyer syndrome	1	1	NR0B1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Beta-ketothiolase deficiency	Carbohydrate metabolism disease	1	1	ACAT1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Bilateral frontoparietal polymicrogyria	Perisylvian syndrome	1	1	ADGRG1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Bile duct neoplasms	Leiomyoma	1	0	EGFR (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Binocular vision disease	Brachycephaly	1	1	RPS23 (6)	0.09091	1.00000	6.494e-4	1.219e-3	250
Bohring-opitz syndrome	Myelomonocytic leukemia	1	1	ASXL1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Bone dysplasia with increased bone density	Craniodiaphyseal dysplasia	1	1	SOST (6)	0.09091	1.00000	6.494e-4	1.219e-3	
Bone resorption	Collagenopathy	1	1	COL2A1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Bone resorption	Coxa plana	1	1	COL2A1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Achondroplasia	Brachycephaly	1	1	FGFR3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	Camptodactyly, tall stature, and hearing loss syndrome	1	1	FGFR3 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	Catshl syndrome	1	1	FGFR3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Brain atrophy	optic atrophy 9	1	1	ACO2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Brain atrophy	Niemann-Pick disease, type C2	1	1	NPC2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
brain dopamine-serotonin vesicular transport disease	Brain edema	1	1	SLC18A2 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Angelman syndrome	Brown oculocutaneous albinism	1	1	OCA2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Burnett schwartz berberian syndrome	Common migraine	1	0	LRP1 (1)	0.09091	1.00000	6.494e-4	1.219e-3	247
Carbohydrate metabolism disease	Triose phosphate isomerase deficiency	1	1	TPI1 (6)	0.09091	1.00000	6.494e-4	1.219e-3	371
Carbohydrate metabolism disease	Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	1	1	COL4A1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
congenital generalized lipodystrophy type 3	Partial lipodystrophy	1	1	CAV1 (4)	0.09091	1.00000	6.494e-4	1.219e-3	79
Congenital hypoplasia of pancreas	monogenic diabetes	1	1	PDX1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital microtia	Headache	1	1	PRKRA (2)	0.09091	1.00000	6.494e-4	1.219e-3	248
Congenital muscular hypertrophy-cerebral syndrome	Cornelia de lange syndrome	1	1	SMC1A (5)	0.09091	1.00000	6.494e-4	1.219e-3	301
congenital myasthenic syndrome 17	Tooth abnormalities	1	1	LRP4 (2)	0.09091	1.00000	6.494e-4	1.219e-3	344
Acro-dermo-ungual-lacrimal-tooth syndrome	Congenital skin anomaly	1	1	TP63 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Contracture	Hyaline fibromatosis	1	1	ANTXR2 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Cortical dysgenesis with pontocerebellar hypoplasia	Martsolf syndrome	1	1	TUBB3 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Craniodiaphyseal dysplasia	cranioectodermal dysplasia 1	1	1	IFT122 (7)	0.09091	1.00000	6.494e-4	1.219e-3	19
Craniodiaphyseal dysplasia	cranioectodermal dysplasia 2	1	1	WDR35 (6)	0.09091	1.00000	6.494e-4	1.219e-3	
craniofacial dysplasia - osteopenia syndrome	Facial dysmorphism syndrome	1	1	IRX5 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Brachycephaly	craniosynostosis 6	1	1	ZIC1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Carotid intima-media thickness	Partial lipodystrophy	1	0	PPARG (1)	0.09091	1.00000	6.494e-4	1.219e-3	79
CBL-related disorder	Myelomonocytic leukemia	1	1	CBL (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Angelman syndrome	CDKL5 disorder	1	1	CDKL5 (4)	0.09091	1.00000	6.494e-4	1.219e-3	55
cenani-lenz syndactyly syndrome	Tooth abnormalities	1	1	LRP4 (2)	0.09091	1.00000	6.494e-4	1.219e-3	344
Central retinal vein occlusion	Deep vein thrombosis	1	0	PROC (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Beckwith-wiedemann syndrome	Cerebellar ataxia with deafness and narcolepsy	1	1	DNMT1 (5)	0.09091	1.00000	6.494e-4	1.219e-3	
Beckwith-wiedemann syndrome	Cerebellar ataxia, deafness, and narcolepsy	1	1	DNMT1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Cerebrofaciothoracic dysplasia	Tooth abnormalities	1	1	TMCO1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Cerebrovascular trauma	Common migraine	1	1	PHACTR1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Charcot-Marie-Tooth disease axonal type 2F	Tongue neoplasms	1	1	HSPB1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Childhood absence epilepsy	Conn syndrome	1	1	CACNA1H (4)	0.09091	1.00000	6.494e-4	1.219e-3	227
Chops syndrome	Cornelia de lange syndrome	1	1	AFF4 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Chromosome 15q24 deletion syndrome	Dwarfism	1	1	SIN3A (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Chromosome 19q13.11 deletion syndrome	Ectrodactyly	1	0	UBA2 (1)	0.09091	1.00000	6.494e-4	1.219e-3	
15q11q13 microduplication syndrome	Angelman syndrome	1	1	UBE3A (7)	0.09091	1.00000	6.494e-4	1.219e-3	
16q24.3 microdeletion syndrome	Esotropia	1	1	ANKRD11 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
46 XY differences of sex development	Swyer syndrome	1	1	DMRT1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Acatalasia	Keratosis	1	1	CAT (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Acces syndrome	Ectrodactyly	1	1	UBA2 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
acute intermittent porphyria	Porphyria	1	1	HMBS (4)	0.09091	1.00000	6.494e-4	1.219e-3	
AKT2-related familial partial lipodystrophy	Partial lipodystrophy	1	1	AKT2 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Alazami-yuan syndrome	Cornelia de lange syndrome	1	0	TAF6 (1)	0.09091	1.00000	6.494e-4	1.219e-3	301
ALPL-related autosomal dominant hypophosphatasia	Ureterolithiasis	1	1	ALPL (2)	0.09091	1.00000	6.494e-4	1.219e-3	
ALPL-related autosomal recessive hypophosphatasia	Ureterolithiasis	1	1	ALPL (2)	0.09091	1.00000	6.494e-4	1.219e-3	
amyotrophic lateral sclerosis type 1	Iron deficiency anemia	1	1	SOD1 (3)	0.09091	1.00000	6.494e-4	1.219e-3	
amyotrophic lateral sclerosis, susceptibility to, 24	Saldino-noonan syndrome	1	1	NEK1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	19
anemia, congenital dyserythropoietic, type 1a	Congenital dyserythropoietic anemia	1	1	CDAN1 (7)	0.09091	1.00000	6.494e-4	1.219e-3	120
Angelman syndrome	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	1	1	TPP1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	55
CIDEC-related familial partial lipodystrophy	Partial lipodystrophy	1	1	CIDEC (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Clouston syndrome	Deafness, x-linked	1	1	GJB6 (3)	0.09091	1.00000	6.494e-4	1.219e-3	68
Cocoon syndrome	Congenital skin anomaly	1	1	CHUK (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Cocoon syndrome	Skin abnormalities	1	1	CHUK (3)	0.09091	1.00000	6.494e-4	1.219e-3	
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	Cornelia de lange syndrome	1	1	AFF4 (4)	0.09091	1.00000	6.494e-4	1.219e-3	
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Congenital skin anomaly	1	1	CHUK (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Skin abnormalities	1	1	CHUK (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Common migraine	hypercholesterolemia, familial, 1	1	1	LDLR (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Common migraine	Tricuspid atresia	1	0	LRP1 (1)	0.09091	1.00000	6.494e-4	1.219e-3	247
Comp-related skeletal dysplasia	Epiphyseal dysplasia	1	1	COMP (5)	0.09091	1.00000	6.494e-4	1.219e-3	308
Complex partial epilepsy	Perisylvian syndrome	1	1	SCN3A (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital atransferrinemia	Iron deficiency anemia	1	1	TF (3)	0.09091	1.00000	6.494e-4	1.219e-3	245
Brachycephaly	Congenital central hypothyroidism	1	0	TRHR (1)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital cleft hand	Ectrodactyly	1	1	DLX5 (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Congenital dyserythropoietic anemia	congenital dyserythropoietic anemia type 2	1	1	SEC23B (7)	0.09091	1.00000	6.494e-4	1.219e-3	
Colchicine resistance	Congenital dyserythropoietic anemia	1	1	ABCB1 (2)	0.09091	1.00000	6.494e-4	1.219e-3	120
Congenital dyserythropoietic anemia	glutaryl-CoA dehydrogenase deficiency	1	1	GCDH (2)	0.09091	1.00000	6.494e-4	1.219e-3	
Uranostaphyloschisis	Uterine polyp	2	2	NFIA (2), SMARCA4 (2)	0.04255	0.08333	6.293e-4	1.219e-3	
Cardiac embolism	Periprosthetic osteolysis	2	0	GLIS3 (1), RGS5 (1)	0.03279	0.16667	6.680e-4	1.254e-3	
Ovarian cysts	Primary angle closure glaucoma	2	2	COL11A1 (2), SFRP4 (2)	0.03922	0.11765	6.682e-4	1.254e-3	
Generalized anxiety disorder	Renal agenesis	2	2	BLTP1 (2), FRAS1 (2)	0.03704	0.13333	6.763e-4	1.269e-3	
Retinopathy of prematurity	Spondylosis	2	1	PTPRD (1), HLA-B (2)	0.04082	0.10000	6.822e-4	1.280e-3	
Bell's palsy	Diffuse idiopathic skeletal hyperostosis	2	0	CDC5L (1), SUPT3H (1)	0.03030	0.18182	6.996e-4	1.313e-3	
Beta-ureidopropionase deficiency	Infantile spasms	1	1	UPB1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	337
Bisphosphoglycerate mutase deficiency	Hereditary hemolytic anemia	1	1	BPGM (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Bohring-opitz syndrome	Hypertrichosis	1	1	ASXL1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Bulbo-spinal atrophy, x-linked	Prostatic intraepithelial neoplasia	1	1	AR (2)	0.08333	1.00000	7.144e-4	1.314e-3	204
Cardiac anomalies - developmental delay - facial dysmorphism syndrome	Transposition of the great arteries	1	1	MED13L (3)	0.08333	1.00000	7.144e-4	1.314e-3	56
Cardiogenetic disease	Short qt syndrome	1	1	CACNB2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Carnitine deficiency	Short qt syndrome	1	1	SLC22A5 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Autoimmune lymphoproliferative disorder	Caspase 8 deficiency	1	1	CASP8 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Caspase 8 deficiency	Melanocytic nevus	1	1	CASP8 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
CDH1-related diffuse gastric and lobular breast cancer syndrome	Ductal carcinoma	1	1	CDH1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Central precocious puberty	Craniofacial deafness hand syndrome	1	1	PAX3 (7)	0.08333	1.00000	7.144e-4	1.314e-3	186
Central serous retinopathy	Intellectual developmental disorder seizures cerebellar	1	1	RORA (4)	0.08333	1.00000	7.144e-4	1.314e-3	32
Central serous retinopathy	Factor h deficiency	1	1	CFH (2)	0.08333	1.00000	7.144e-4	1.314e-3	32
Central serous retinopathy	Genetic hemolytic uremic syndrome	1	1	CFH (2)	0.08333	1.00000	7.144e-4	1.314e-3	32
Central serous retinopathy	neuropathy, hereditary sensory and autonomic, type 2A	1	1	WNK1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Central serous retinopathy	developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	1	1	ARFGEF1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Charcot-Marie-Tooth disease axonal type 2N	Trichothiodystrophy	1	1	AARS1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Charcot-Marie-Tooth disease type 1A	Demyelinating diseases	1	1	PMP22 (3)	0.08333	1.00000	7.144e-4	1.314e-3	382
Childhood apraxia of speech	Silver-russell syndrome	1	1	FOXP2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	323
Arthrogryposis	childhood-onset nemaline myopathy	1	1	TNNI1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	258
Arthrogryposis	CHRNG-associated hypo-akinesia disorder of prenatal onset	1	1	CHRNG (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Chromosome 16p13.3 deletion syndrome	Hypertrichosis	1	0	CREBBP (1)	0.08333	1.00000	7.144e-4	1.314e-3	
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	Leopard syndrome	1	1	PPP1R13L (2)	0.08333	1.00000	7.144e-4	1.314e-3	49
Arthrogryposis	Dilatation of left cardiac ventricle	1	1	ACTC1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Arthrogryposis	dilated cardiomyopathy 1R	1	1	ACTC1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Ataxia telangiectasia	Hairy cell leukemia	1	1	BRAF (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Ataxia telangiectasia	Middle ear cholesteatoma	1	0	IL2 (1)	0.08333	1.00000	7.144e-4	1.314e-3	
Ataxia telangiectasia	Conjunctival telangiectasis	1	1	ATM (7)	0.08333	1.00000	7.144e-4	1.314e-3	364
Ataxia telangiectasia	ATM-related cancer predisposition	1	1	ATM (7)	0.08333	1.00000	7.144e-4	1.314e-3	364
Autoimmune lymphoproliferative disorder	autoimmune lymphoproliferative syndrome type 1	1	1	FASLG (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Autoimmune lymphoproliferative disorder	autoimmune lymphoproliferative syndrome type 2A	1	1	CASP10 (7)	0.08333	1.00000	7.144e-4	1.314e-3	17
Autoimmune lymphoproliferative disorder	autoimmune lymphoproliferative syndrome type 2B	1	1	CASP8 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
autoimmune lymphoproliferative syndrome type 2B	Melanocytic nevus	1	1	CASP8 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	1	1	TUBA4A (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Avoidant restrictive food intake disorder	Sleep disorder	1	1	APOE (2)	0.08333	1.00000	7.144e-4	1.314e-3	125
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations	Prostatic intraepithelial neoplasia	1	1	TOP2B (2)	0.08333	1.00000	7.144e-4	1.314e-3	204
Beckwith-Wiedemann syndrome due to CDKN1C mutation	Silver-russell syndrome	1	1	CDKN1C (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Adrenocortical carcinoma	Cushing's disease	1	1	TP53 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Cardiovascular abnormalities	Deafness-lymphedema-leukemia syndrome	1	1	GATA2 (4)	0.08333	1.00000	7.144e-4	1.314e-3	126
Deglutition disorder	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	1	1	MEGF10 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Deglutition disorder	MEGF10-related myopathy	1	1	MEGF10 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Deglutition disorder	Dopamine transporter deficiency syndrome	1	1	SLC6A3 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Delayed sleep phase syndrome	Sleep disorder	1	1	CRY1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	125
Adrenocortical carcinoma	Demyelinating diseases	1	1	TP53 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Choroid plexus carcinoma	Demyelinating diseases	1	1	TP53 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Choroid plexus papilloma	Demyelinating diseases	1	1	TP53 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
developmental and epileptic encephalopathy, 29	Trichothiodystrophy	1	1	AARS1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
developmental and epileptic encephalopathy, 80	Hyperphosphatasia with intellectual disability syndrome	1	1	PIGB (2)	0.08333	1.00000	7.144e-4	1.314e-3	355
Developmental delay with facial dysmorphism syndrome	Transposition of the great arteries	1	1	MED13L (2)	0.08333	1.00000	7.144e-4	1.314e-3	56
diamond-blackfan anemia 6	Testicular hydrocele	1	1	RPL5 (2)	0.08333	1.00000	7.144e-4	1.314e-3	240
Diffuse idiopathic skeletal hyperostosis	Short syndrome	1	1	PIK3R1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	376
Diffuse idiopathic skeletal hyperostosis	PIK3R1-related immunodeficiency and SHORT syndrome	1	1	PIK3R1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	376
Diffuse idiopathic skeletal hyperostosis	immunodeficiency 122	1	1	POLD3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	376
dilated cardiomyopathy 1W	Short qt syndrome	1	1	VCL (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Cardiovascular abnormalities	Distichiasis-lymphedema syndrome	1	1	FOXC2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum	Meier-gorlin syndrome	1	0	DONSON (1)	0.08333	1.00000	7.144e-4	1.314e-3	175
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 3	1	1	DNAH5 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Arthrogryposis	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	1	1	ERCC6 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
17,20-lyase deficiency	Congenital adrenal hyperplasia	1	1	CYP17A1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital adrenal hyperplasia	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital adrenal hyperplasia	Dosage-sensitive sex reversal	1	1	NR0B1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital adrenal hyperplasia	X-linked adrenal hypoplasia congenita	1	1	NR0B1 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	1	1	CYP21A2 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital cataract anterior segment dysgenesis syndrome	Posterior subcapsular cataract	1	1	PITX3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital factor vii deficiency	Hematuria	1	1	F7 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital fiber type disproportion myopathy	Congenital generalized hypercontractile muscle stiffness syndrome	1	1	TPM3 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital hypoplasia of clavicle	Posterior subcapsular cataract	1	1	LEMD2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital adrenal hyperplasia	Congenital lipoid adrenal hyperplasia	1	1	STAR (4)	0.08333	1.00000	7.144e-4	1.314e-3	
congenital myasthenic syndrome 6	Presynaptic congenital myasthenic syndrome	1	1	CHAT (4)	0.08333	1.00000	7.144e-4	1.314e-3	5
congenital myasthenic syndrome 7	Presynaptic congenital myasthenic syndrome	1	1	SYT2 (4)	0.08333	1.00000	7.144e-4	1.314e-3	5
congenital myasthenic syndrome 8	Presynaptic congenital myasthenic syndrome	1	1	AGRN (4)	0.08333	1.00000	7.144e-4	1.314e-3	5
Autoimmune pulmonary alveolar proteinosis	Congenital pulmonary artery atresia	1	1	HLA-DRB1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	254
Congenital pulmonary artery atresia	Heerfordt syndrome	1	0	HLA-DRB1 (1)	0.08333	1.00000	7.144e-4	1.314e-3	254
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Sideroblastic anemia	1	1	TRNT1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenitally uncorrected transposition of the great arteries	Transposition of the great arteries	1	1	CFC1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	56
Arthrogryposis	Contractures, pterygia, and spondylocarpotarsal fusion syndrome	1	1	MYH3 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Arthrogryposis	Contractures, pterygia, and variable skeletal fusions syndrome	1	1	MYH3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Copper overload cirrhosis	Hyper-ige syndrome	1	1	STAT3 (3)	0.08333	1.00000	7.144e-4	1.314e-3	167
Copper overload cirrhosis	Lymphoproliferative disorder of natural killer cells	1	1	STAT3 (3)	0.08333	1.00000	7.144e-4	1.314e-3	167
Copper overload cirrhosis	STAT3-related early-onset multisystem autoimmune disease	1	1	STAT3 (3)	0.08333	1.00000	7.144e-4	1.314e-3	167
Copper overload cirrhosis	hyper-IgE recurrent infection syndrome 1, autosomal dominant	1	1	STAT3 (3)	0.08333	1.00000	7.144e-4	1.314e-3	167
Coralliform cataract	Lamellar cataract	1	1	CRYGD (3)	0.08333	1.00000	7.144e-4	1.314e-3	51
Coronary vessel anomalies	Hereditary hemolytic anemia	1	1	GCLC (2)	0.08333	1.00000	7.144e-4	1.314e-3	12
20p12.3 microdeletion syndrome	Transposition of the great arteries	1	1	BMP2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
22q11 deletion syndrome	Cardiovascular abnormalities	1	1	FGF8 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
2q37 microdeletion syndrome	Ataxia telangiectasia	1	0	HDAC4 (1)	0.08333	1.00000	7.144e-4	1.314e-3	
3-hydroxyacyl-coa dehydrogenase deficiency	Hyperinsulinemic hypoglycemia	1	1	HADH (6)	0.08333	1.00000	7.144e-4	1.314e-3	
AARS1-related leukoencephalopathy	Trichothiodystrophy	1	1	AARS1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
agammaglobulinemia 7, autosomal recessive	Diffuse idiopathic skeletal hyperostosis	1	1	PIK3R1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	376
Agnathia-otocephaly	Demyelinating diseases	1	1	PRRX1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Alpha-actinopathy	Congenital fiber type disproportion myopathy	1	1	ACTA1 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Amish brittle hair brain syndrome	Trichothiodystrophy	1	1	RNF113A (6)	0.08333	1.00000	7.144e-4	1.314e-3	113
amyotrophic lateral sclerosis type 22	Macrothrombocytopenia	1	1	TUBA4A (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Congenital adrenal hyperplasia	1	1	POR (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Growth retardation, developmental delay, and facial dysmorphism	Sarcopenia	1	1	FTO (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Growth retardation, developmental delay, coarse facies, and early death	Sarcopenia	1	1	FTO (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital fiber type disproportion myopathy	SELENON-related myopathy	1	1	SELENON (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Esophageal stenosis	Sideroblastic anemia	1	1	SOD2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Sideroblastic anemia	X-linked erythropoietic protoporphyria	1	1	ALAS2 (7)	0.08333	1.00000	7.144e-4	1.314e-3	
Sideroblastic anemia	Spasticity with hyperglycinemia	1	1	GLRX5 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Sideroblastic anemia	Sideroblastic anemia with b-cell immunodeficiency	1	1	TRNT1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Silver-russell syndrome	silver-russell syndrome 5	1	1	HMGA2 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Deglutition disorder	SLC6A3-related dopamine transporter deficiency syndrome	1	1	SLC6A3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Gastroparesis	spermatogenic failure 19	1	1	CFAP43 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital adrenal hyperplasia	Steroid 11-beta-monooxygenase deficiency	1	1	CYP11B1 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Bone marrow neoplasms	Stomatitis	1	1	CSF3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Short qt syndrome	Systemic primary carnitine deficiency	1	1	SLC22A5 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Melanocytic nevus	Temperature-sensitive oculocutaneous albinism	1	1	TYR (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Macrothrombocytopenia	Thrombasthenia-thrombocytopenia	1	1	GFI1B (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Short qt syndrome	Timothy syndrome	1	1	CACNA1C (7)	0.08333	1.00000	7.144e-4	1.314e-3	
Arthrogryposis	TPM2-related myopathy	1	1	TPM2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	258
Congenital fiber type disproportion myopathy	TPM2-related myopathy	1	1	TPM2 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital fiber type disproportion myopathy	TPM3-related myopathy	1	1	TPM3 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Macrothrombocytopenia	TPM4-related platelet disorder	1	1	TPM4 (3)	0.08333	1.00000	7.144e-4	1.314e-3	67
transcobalamin ii deficiency	Vitamin b12 deficiency	1	1	TCN2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	100
Cardiovascular abnormalities	Gata2 deficiency	1	1	GATA2 (4)	0.08333	1.00000	7.144e-4	1.314e-3	126
Cardiovascular abnormalities	GATA2 deficiency with susceptibility to MDS/AML	1	1	GATA2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	126
Genetic transient congenital hypothyroidism	Idiopathic basal ganglia calcification	1	1	DUOX2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Cushing's disease	Glucocorticoid receptor deficiency/resistance	1	1	NR3C1 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
H syndrome	Hypertrichosis	1	1	SLC29A3 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Ductal carcinoma	Hereditary diffuse gastric and lobular breast cancer syndrome	1	1	CDH1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Hereditary hemolytic anemia	inherited glutathione synthetase deficiency	1	1	GSS (2)	0.08333	1.00000	7.144e-4	1.314e-3	12
Demyelinating diseases	Hereditary neuropathy with liability to pressure palsies	1	1	PMP22 (4)	0.08333	1.00000	7.144e-4	1.314e-3	382
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 8	1	1	BLOC1S3 (7)	0.08333	1.00000	7.144e-4	1.314e-3	178
Hermansky-pudlak syndrome	Ocular albinism with sensorineural deafness	1	1	AP3D1 (7)	0.08333	1.00000	7.144e-4	1.314e-3	
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 10	1	1	AP3D1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 2	1	1	AP3B1 (7)	0.08333	1.00000	7.144e-4	1.314e-3	178
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 1	1	1	HPS1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	178
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 11	1	1	BLOC1S5 (6)	0.08333	1.00000	7.144e-4	1.314e-3	178
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 3	1	1	HPS3 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 4	1	1	HPS4 (7)	0.08333	1.00000	7.144e-4	1.314e-3	178
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 5	1	1	HPS5 (6)	0.08333	1.00000	7.144e-4	1.314e-3	178
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 6	1	1	HPS6 (6)	0.08333	1.00000	7.144e-4	1.314e-3	178
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 7	1	1	DTNBP1 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Hermansky-pudlak syndrome	hermansky-pudlak syndrome 9	1	1	BLOC1S6 (6)	0.08333	1.00000	7.144e-4	1.314e-3	178
Infantile spasms	medium chain acyl-coa dehydrogenase deficiency	1	1	ACADM (2)	0.08333	1.00000	7.144e-4	1.314e-3	337
Meier-gorlin syndrome	meier-gorlin syndrome 7	1	1	CDC45 (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Ankylosis	Meier-gorlin syndrome	1	1	FGFR2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Beare-stevenson cutis gyrata syndrome	Meier-gorlin syndrome	1	1	FGFR2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Meier-gorlin syndrome	meier-gorlin syndrome 2	1	1	ORC4 (6)	0.08333	1.00000	7.144e-4	1.314e-3	175
Meier-gorlin syndrome	meier-gorlin syndrome 3	1	1	ORC6 (6)	0.08333	1.00000	7.144e-4	1.314e-3	175
Meier-gorlin syndrome	meier-gorlin syndrome 4	1	1	CDT1 (7)	0.08333	1.00000	7.144e-4	1.314e-3	175
Meier-gorlin syndrome	meier-gorlin syndrome 5	1	1	CDC6 (6)	0.08333	1.00000	7.144e-4	1.314e-3	175
Meier-gorlin syndrome	meier-gorlin syndrome 6	1	1	GMNN (6)	0.08333	1.00000	7.144e-4	1.314e-3	175
Ductal carcinoma	Merkel cell carcinoma	1	0	MYC (1)	0.08333	1.00000	7.144e-4	1.314e-3	
Demyelinating diseases	Merkel cell carcinoma	1	1	MYC (2)	0.08333	1.00000	7.144e-4	1.314e-3	382
Demyelinating diseases	methionine adenosyltransferase deficiency	1	1	MAT1A (3)	0.08333	1.00000	7.144e-4	1.314e-3	
methylmalonic acidemia due to transcobalamin receptor defect	Vitamin b12 deficiency	1	1	CD320 (2)	0.08333	1.00000	7.144e-4	1.314e-3	100
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Vitamin b12 deficiency	1	1	MMUT (2)	0.08333	1.00000	7.144e-4	1.314e-3	
methylmalonic aciduria, cblA type	Vitamin b12 deficiency	1	1	MMAA (2)	0.08333	1.00000	7.144e-4	1.314e-3	100
Methylmalonyl-coa mutase deficiency	Vitamin b12 deficiency	1	1	MMUT (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Microstomia	Posterior subcapsular cataract	1	1	LEMD2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Mosaic variegated aneuploidy	mosaic variegated aneuploidy syndrome 2	1	1	CEP57 (7)	0.08333	1.00000	7.144e-4	1.314e-3	
Mosaic variegated aneuploidy	mosaic variegated aneuploidy syndrome 1	1	1	BUB1B (7)	0.08333	1.00000	7.144e-4	1.314e-3	
Hypertrichosis	mucopolysaccharidosis type 3B	1	1	NAGLU (2)	0.08333	1.00000	7.144e-4	1.314e-3	
multiple endocrine neoplasia type 4	Prostatic intraepithelial neoplasia	1	1	CDKN1B (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Autoimmune lymphoproliferative disorder	multisystemic smooth muscle dysfunction syndrome	1	1	ACTA2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	17
Copper overload cirrhosis	multisystemic smooth muscle dysfunction syndrome	1	1	ACTA2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital fiber type disproportion myopathy	myopathy, centronuclear, 6, with fiber-type disproportion	1	1	MAP3K20 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Hematuria	nail-patella syndrome	1	1	LMX1B (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Infantile spasms	nail-patella syndrome	1	1	LMX1B (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Cardiovascular abnormalities	nephronophthisis 16	1	1	ANKS6 (3)	0.08333	1.00000	7.144e-4	1.314e-3	126
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	Post-operative acute kidney injury	1	1	CAPRIN1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Ataxia telangiectasia	Intracranial germ cell tumor	1	1	BAK1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	364
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	Silver-russell syndrome	1	1	CDKN1C (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Kennedy disease	Prostatic intraepithelial neoplasia	1	1	AR (2)	0.08333	1.00000	7.144e-4	1.314e-3	204
LAMA5-related multisystemic syndrome	Presynaptic congenital myasthenic syndrome	1	1	LAMA5 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
leukodystrophy, hypomyelinating, 16	Sleep disorder	1	1	TMEM106B (2)	0.08333	1.00000	7.144e-4	1.314e-3	125
Leukoencephalopathy	Trichothiodystrophy	1	1	AARS1 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Copper overload cirrhosis	loeys-dietz syndrome 6	1	1	SMAD2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Cardiovascular abnormalities	lymphedema-distichiasis syndrome	1	1	FOXC2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Cardiovascular abnormalities	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	1	1	FOXC2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Autoimmune lymphoproliferative disorder	lymphoproliferative syndrome 1	1	1	ITK (2)	0.08333	1.00000	7.144e-4	1.314e-3	17
Macrothrombocytopenia	macrothrombocytopenia, isolated, 1, autosomal dominant	1	1	TUBB1 (4)	0.08333	1.00000	7.144e-4	1.314e-3	67
Dysbetalipoproteinemia	Sleep disorder	1	1	APOE (2)	0.08333	1.00000	7.144e-4	1.314e-3	125
Demyelinating diseases	Dysgnathia complex	1	1	PRRX1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Early-onset epilepsy-intellectual disability-brain anomalies syndrome	Hyperphosphatasia with intellectual disability syndrome	1	1	PIGG (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency	Hermansky-pudlak syndrome	1	1	AP3D1 (7)	0.08333	1.00000	7.144e-4	1.314e-3	
Erythrocyte lactate transporter defect	Hyperinsulinemic hypoglycemia	1	1	SLC16A1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Factor vii deficiency	Hematuria	1	1	F7 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Autoimmune lymphoproliferative disorder	FAS-related autoimmune lymphoproliferative immune disorder	1	1	FAS (7)	0.08333	1.00000	7.144e-4	1.314e-3	
Fatty acid and ketone body metabolism disorder	Hyperinsulinemic hypoglycemia	1	1	SLC16A1 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Fatty acid oxidation and ketone body metabolism disorder	Hyperinsulinemic hypoglycemia	1	1	SLC16A1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	Post-operative acute kidney injury	1	1	CAPRIN1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Ductal carcinoma	neurodevelopmental disorder with microcephaly and dysmorphic facies	1	1	SPOP (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Ductal carcinoma	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	1	1	SPOP (2)	0.08333	1.00000	7.144e-4	1.314e-3	
neuronopathy, distal hereditary motor, type 7A	Presynaptic congenital myasthenic syndrome	1	1	SLC5A7 (4)	0.08333	1.00000	7.144e-4	1.314e-3	5
nijmegen breakage syndrome	Stomatitis	1	1	NBN (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Hyperinsulinemic hypoglycemia	obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	1	1	HADH (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Melanocytic nevus	oculocutaneous albinism type 1	1	1	TYR (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Copper overload cirrhosis	Osteofibrous dysplasia	1	1	MET (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Congenital adrenal hyperplasia	P450 oxidoreductase deficiency	1	1	POR (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Copper overload cirrhosis	papillary renal cell carcinoma	1	1	MET (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Partial androgen insensitivity syndrome	Prostatic intraepithelial neoplasia	1	1	AR (4)	0.08333	1.00000	7.144e-4	1.314e-3	204
Partial deficiency of methylmalonyl-coenzyme a mutase	Vitamin b12 deficiency	1	1	MMUT (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Trichorrhexis nodosa syndrome	Trichothiodystrophy	1	1	MPLKIP (6)	0.08333	1.00000	7.144e-4	1.314e-3	113
Cardiovascular abnormalities	Urinary retention	1	1	EDN1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Retinitis pigmentosa-deafness syndrome	Usher syndrome type 2D	1	1	WHRN (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Retinitis pigmentosa-deafness syndrome	Usher syndrome type 3	1	1	CLRN1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Vitamin b12 deficiency	Vitamin b12-unresponsive methylmalonic acidemia	1	1	FUT2 (3)	0.08333	1.00000	7.144e-4	1.314e-3	100
Posterior subcapsular cataract	Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	1	1	LEMD2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Trichothiodystrophy	xeroderma pigmentosum group B	1	1	ERCC3 (8)	0.08333	1.00000	7.144e-4	1.314e-3	113
Trichothiodystrophy	xeroderma pigmentosum group D	1	1	ERCC2 (6)	0.08333	1.00000	7.144e-4	1.314e-3	113
Congenital fiber type disproportion myopathy	Zebra body myopathy	1	1	ACTA1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Melanocytic nevus	PLA2G6-associated neurodegeneration	1	1	PLA2G6 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Macrothrombocytopenia	platelet-type bleeding disorder 15	1	1	ACTN1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	67
Macrothrombocytopenia	platelet-type bleeding disorder 17	1	1	GFI1B (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Macrothrombocytopenia	platelet-type von Willebrand disease	1	1	GP1BA (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Hyperinsulinemic hypoglycemia	PMM2-congenital disorder of glycosylation	1	1	PMM2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Cutaneous lupus erythematosus	poirier-bienvenu neurodevelopmental syndrome	1	1	CSNK2B (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 1	1	1	DNAI1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 11	1	1	RSPH4A (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 15	1	1	CCDC40 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 17	1	1	DNAAF19 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 2	1	1	DNAAF3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 21	1	1	DRC1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 25	1	1	DNAAF4 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 30	1	1	ODAD3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Ciliary dyskinesia, with or without situs inversus	primary ciliary dyskinesia 7	1	1	DNAH11 (2)	0.08333	1.00000	7.144e-4	1.314e-3	9
Prostatic intraepithelial neoplasia	PTEN hamartoma tumor syndrome	1	1	PTEN (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Repolarization syndrome	Short qt syndrome	1	0	CACNB2 (1)	0.08333	1.00000	7.144e-4	1.314e-3	
Retinitis pigmentosa and erythrocytic microcytosis	Sideroblastic anemia	1	1	TRNT1 (5)	0.08333	1.00000	7.144e-4	1.314e-3	
Cushing's disease	Retractile testis	1	0	GNAI2 (1)	0.08333	1.00000	7.144e-4	1.314e-3	
Demyelinating diseases	Retrognathia	1	1	PRRX1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Anhydramnios	Rhyns syndrome	1	1	TMEM67 (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Right isomerism	Transposition of the great arteries	1	1	GDF1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	56
Right ventricle hypoplasia	Transposition of the great arteries	1	1	BMP2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Hyperinsulinemic hypoglycemia	hyperinsulinemic hypoglycemia with polycystic kidney disease	1	1	PMM2 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Hyperinsulinemic hypoglycemia	Hyperinsulinism-hyperammonemia syndrome	1	1	GLUD1 (7)	0.08333	1.00000	7.144e-4	1.314e-3	35
Hyperphosphatasia with intellectual disability syndrome	Zunich neuroectodermal syndrome	1	1	PIGL (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Hyperphosphatasia with intellectual disability syndrome	hyperphosphatasia with intellectual disability syndrome 4	1	1	PGAP3 (7)	0.08333	1.00000	7.144e-4	1.314e-3	355
Hyperphosphatasia with intellectual disability syndrome	hyperphosphatasia with intellectual disability syndrome 1	1	1	PIGV (7)	0.08333	1.00000	7.144e-4	1.314e-3	355
Hyperphosphatasia with intellectual disability syndrome	hyperphosphatasia with intellectual disability syndrome 6	1	1	PIGY (6)	0.08333	1.00000	7.144e-4	1.314e-3	355
Hereditary hemolytic anemia	Hyperthermia	1	1	GPX1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Hypertrichosis	X-linked congenital generalized hypertrichosis	1	1	SOX3 (3)	0.08333	1.00000	7.144e-4	1.314e-3	
Hypertrichosis	SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	1	1	SOX3 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
Acromegaloid facial appearance syndrome	Hypertrichosis	1	1	ABCC9 (3)	0.08333	1.00000	7.144e-4	1.314e-3	234
Arthrogryposis	Hypo-akinesia disorder of prenatal onset	1	1	CHRNG (4)	0.08333	1.00000	7.144e-4	1.314e-3	
Idiopathic basal ganglia calcification	Myeloproliferative disease, unclassifiable	1	1	PDGFRB (6)	0.08333	1.00000	7.144e-4	1.314e-3	
Idiopathic basal ganglia calcification	IFIH1-related type 1 interferonopathy	1	1	IFIH1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	
immunodeficiency 114, folate-responsive	Transposition of the great arteries	1	1	SLC19A1 (2)	0.08333	1.00000	7.144e-4	1.314e-3	56
Autoimmune lymphoproliferative disorder	immunodeficiency 64	1	1	RASGRP1 (3)	0.08333	1.00000	7.144e-4	1.314e-3	17
Ataxia	Duchenne muscular dystrophy	2	2	DMD (5), SNCA (2)	0.04082	0.09524	7.034e-4	1.314e-3	
Amblyopia	Night blindness, congenital stationary	2	1	CACNA1F (3), USH2A (1)	0.04082	0.08000	7.420e-4	1.364e-3	
Atrial flutter	Ileocolitis	2	0	PHLDB2 (1), PLCXD2 (1)	0.02273	0.25000	7.497e-4	1.378e-3	
Dopa-responsive dystonia	Hyperphenylalaninemia	1	1	SPR (4)	0.14286	0.33333	7.792e-4	1.386e-3	
Basal cell nevus syndrome	Hypoparathyroidism	1	1	PTH (3)	0.14286	0.33333	7.792e-4	1.386e-3	
Autoimmune polyendocrine syndrome	Hypoparathyroidism	1	1	AIRE (7)	0.14286	0.33333	7.792e-4	1.386e-3	
Insulin dependent diabetes mellitus secretory diarrhea syndrome	Ritscher-schinzler syndrome	1	1	CCDC22 (5)	0.14286	0.33333	7.792e-4	1.386e-3	
Intellectual developmental disorder dysmorphic behavioral	Muir-torre syndrome	1	1	MSH6 (2)	0.14286	0.33333	7.792e-4	1.386e-3	39
Intellectual developmental disorder dysmorphic behavioral	mismatch repair cancer syndrome 1	1	1	MSH6 (2)	0.14286	0.33333	7.792e-4	1.386e-3	39
Congenital kidney anomaly	Encephalocele	1	0	CEP290 (1)	0.14286	0.33333	7.792e-4	1.386e-3	48
Esophageal varices	Vipoma	1	1	SST (2)	0.14286	0.33333	7.792e-4	1.386e-3	340
Extrinsic allergic alveolitis	Spinal cord compression	1	0	TNF (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Fatty acid metabolism disorder	Peroxisomal disorder	1	1	HSD17B4 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Focal epilepsy	Roifman syndrome	1	1	CLASP1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Extrinsic allergic alveolitis	MHC class I deficiency	1	1	TAP1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Hereditary hemophagocytic lymphohistiocytosis	Microvillus inclusion disease	1	1	STXBP2 (3)	0.14286	0.33333	7.792e-4	1.386e-3	96
Mild cognitive impairment	Parkinsonism-dystonia	1	1	SLC6A3 (4)	0.14286	0.33333	7.792e-4	1.386e-3	336
Mirror movements	Partial agenesis of corpus callosum	1	1	DCC (6)	0.14286	0.33333	7.792e-4	1.386e-3	
Anti-glomerular basement membrane disease	Mycosis fungoides	1	1	CTLA4 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Neurogenic diabetes insipidus	Shy-drager syndrome	1	1	AVP (3)	0.14286	0.33333	7.792e-4	1.386e-3	
Diabetes insipidus	Shy-drager syndrome	1	1	AVP (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Nephrogenic diabetes insipidus	Shy-drager syndrome	1	1	AVP (4)	0.14286	0.33333	7.792e-4	1.386e-3	
Hyperkalemic periodic paralysis	Smith-lemli-opitz syndrome	1	0	CLCN1 (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Spinocerebellar ataxia, x-linked	X-linked sideroblastic anemia	1	1	ABCB7 (4)	0.14286	0.33333	7.792e-4	1.386e-3	
Esophageal achalasia	Glucocorticoid deficiency with achalasia	1	1	AAAS (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Hepatic fibrosis	Hypercholanemia	1	1	SLC10A1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Cortical dysplasia	Intellectual developmental disorder speech autism dysmorphic	1	0	TBR1 (1)	0.14286	0.33333	7.792e-4	1.386e-3	220
Pregnancy disorder	Spinal cord compression	1	0	TNF (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Resistant hypertension	Ventricular ectopy	1	1	NOS3 (2)	0.14286	0.33333	7.792e-4	1.386e-3	326
Discordant ventriculoarterial connection	Right atrial isomerism	1	1	GDF1 (3)	0.14286	0.33333	7.792e-4	1.386e-3	56
Greither disease	Olmsted syndrome	1	1	PERP (4)	0.14286	0.33333	7.792e-4	1.386e-3	
Ovarian diseases	Uterine cancer	1	1	CYP19A1 (3)	0.14286	0.33333	7.792e-4	1.386e-3	
Epidermolytic palmoplantar keratoderma	Pachyonychia congenita	1	1	KRT16 (6)	0.14286	0.33333	7.792e-4	1.386e-3	
Colorectal cancer susceptibility	Paraquat lung disease	1	1	SMAD7 (4)	0.14286	0.33333	7.792e-4	1.386e-3	356
Esophageal achalasia	Triple a syndrome	1	1	AAAS (3)	0.14286	0.33333	7.792e-4	1.386e-3	
Coronary artery vasospasm	Ventricular ectopy	1	1	NOS3 (2)	0.14286	0.33333	7.792e-4	1.386e-3	326
Intestinal perforation	Ventricular ectopy	1	1	NOS3 (2)	0.14286	0.33333	7.792e-4	1.386e-3	326
Au-kline syndrome	Von hippel-lindau syndrome	1	1	VHL (7)	0.14286	0.33333	7.792e-4	1.386e-3	
46, xy disorder of sex development	Testotoxicosis	1	1	LHCGR (2)	0.14286	0.33333	7.792e-4	1.386e-3	183
Advanced sleep phase syndrome	Homocystinuria with megaloblastic anemia	1	1	PER3 (2)	0.14286	0.33333	7.792e-4	1.386e-3	155
Anauxetic dysplasia	Metaphyseal dysplasia	1	0	CCDC107 (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Anterior polar cataract	Non-syndromic cataract	1	1	CRYBB3 (3)	0.14286	0.33333	7.792e-4	1.386e-3	51
Anti-nmda receptor encephalitis	Selective immunoglobulin a deficiency	1	1	IFIH1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Antisocial personality disorder	Orthostatic hypotension	1	1	ABCB1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	120
Apnea	Hyperexplexia hereditary	1	0	SLC6A5 (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Apolipoprotein b hypobetalipoproteinemia	Benign mucous membrane pemphigoid with ocular involvement	1	1	HLA-DQB1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	1
Apolipoprotein b hypobetalipoproteinemia	Bouillaud’s disease	1	1	HLA-DQB1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	1
Acute disseminated encephalomyelitis	Apolipoprotein b hypobetalipoproteinemia	1	1	HLA-DQB1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	1
Arteritis	Coronary artery vasospasm	1	1	PON1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Antithrombin deficiency	Bronchiolitis	1	0	MUC5B (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Brown tendon sheath syndrome	Parathyroid disease	1	1	MAFB (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Capillary infantile hemangioma	Endocrine neoplasms	1	1	KDR (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Cerebral artery occlusion	Overactive bladder	1	1	ADCYAP1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Dermatitis herpetiformis	Pregnancy disorder	1	0	TNF (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Congenital lactic acidosis	Microvillus inclusion disease	1	1	STXBP2 (2)	0.14286	0.33333	7.792e-4	1.386e-3	96
Congenital mirror movements	Partial agenesis of corpus callosum	1	1	DCC (3)	0.14286	0.33333	7.792e-4	1.386e-3	
Congenital vertebral-cardiac-renal anomalies syndrome	Smith-lemli-opitz syndrome	1	1	NADSYN1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Coronary vasospasm	Resistant hypertension	1	1	NOS3 (2)	0.14286	0.33333	7.792e-4	1.386e-3	326
Coronary vasospasm	Intestinal perforation	1	1	NOS3 (2)	0.14286	0.33333	7.792e-4	1.386e-3	326
Benign mucous membrane pemphigoid with ocular involvement	Churg-strauss syndrome	1	1	HLA-DQB1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	1
Bouillaud’s disease	Churg-strauss syndrome	1	1	HLA-DQB1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	1
Acute disseminated encephalomyelitis	Churg-strauss syndrome	1	1	HLA-DQB1 (2)	0.14286	0.33333	7.792e-4	1.386e-3	1
Asymmetric septal hypertrophy	Concentric hypertrophic cardiomyopathy	1	0	MYBPC3 (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Concentric hypertrophic cardiomyopathy	Paroxysmal atrial fibrillation	1	0	MYBPC3 (1)	0.14286	0.33333	7.792e-4	1.386e-3	
Activated pi3k-delta syndrome	Concussion	1	1	PTEN (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Concussion	Retinal vasculopathy with cerebral leukodystrophy	1	1	PTEN (2)	0.14286	0.33333	7.792e-4	1.386e-3	
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome	Trichohepatoenteric syndrome	1	1	AGK (2)	0.14286	0.33333	7.792e-4	1.386e-3	276
Congenital communicating hydrocephalus	Cryptospermia	1	1	TRIM71 (2)	0.14286	0.33333	7.792e-4	1.386e-3	298
Cardiac valvular dysplasia	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	1	1	MTHFD1 (5)	0.12500	0.50000	7.792e-4	1.386e-3	
Benign myoclonic epilepsy	Cri-du-chat syndrome	1	1	CTNND2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Bifid uvula	Van der woude syndrome	1	1	GRHL3 (6)	0.12500	0.50000	7.792e-4	1.386e-3	
Bile duct disease	Erythropoietic protoporphyria	1	1	FECH (8)	0.12500	0.50000	7.792e-4	1.386e-3	318
Blepharocheilodontic syndrome	Trigeminal nerve disease	1	1	CTNND1 (7)	0.12500	0.50000	7.792e-4	1.386e-3	165
Brachydactyly-elbow wrist dysplasia syndrome	Clubfoot	1	1	PITX1 (6)	0.12500	0.50000	7.792e-4	1.386e-3	
Axenfeld-rieger syndrome	Brittle cornea syndrome	1	1	PRDM5 (6)	0.12500	0.50000	7.792e-4	1.386e-3	
17 alpha-hydroxyprogesterone aldolase deficiency	Disorders of sex development	1	1	AKR1C2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	363
17p13.3 microduplication syndrome	Clear cell sarcoma of kidney	1	1	YWHAE (2)	0.12500	0.50000	7.792e-4	1.386e-3	225
Acid-base disorder	Laryngeal neoplasms	1	1	ADH1B (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Anal polyp	Dihydropyrimidine metabolism disorder	1	1	DPYD (2)	0.12500	0.50000	7.792e-4	1.386e-3	365
Anaptoglobinemia	Hemolysis	1	1	HP (4)	0.12500	0.50000	7.792e-4	1.386e-3	
Aortic valve stenosis	Major salivary gland carcinoma	1	0	HACE1 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Atrioventricular excitation abnormality	Bile duct disorder	1	1	PRKAG2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	328
Autoimmune interstitial lung disease-arthritis syndrome	Cold autoinflammatory syndrome	1	1	NLRP12 (4)	0.12500	0.50000	7.792e-4	1.386e-3	
Congenital hearing disorder	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome	1	0	COL4A3 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Congenital hearing disorder	Jervell and lange-nielsen syndrome	1	1	KCNE1 (6)	0.12500	0.50000	7.792e-4	1.386e-3	
Congenital isolated growth hormone deficiency	Pituitary neoplasms	1	1	GH1 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Congenital keratoglobus	Hydrophthalmos	1	0	LTBP2 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Congenital leukocyte adherence deficiency	Skin ulcer	1	1	ITGB2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	142
Congenital mesoblastic nephroma	Hypereosinophilic syndrome	1	1	ETV6 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Conjunctivitis	Laryngeal disease	1	1	PLG (2)	0.12500	0.50000	7.792e-4	1.386e-3	246
Congenital malformation syndromes associated with short stature	Corpus callosum agenesis	1	1	CDK5RAP2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Carey-fineman-ziter syndrome	Major salivary gland carcinoma	1	1	MYMK (5)	0.12500	0.50000	7.792e-4	1.386e-3	
Carotid atherosclerosis	Rhabdoid tumor predisposition syndrome	1	1	SMARCA4 (6)	0.12500	0.50000	7.792e-4	1.386e-3	261
Carotid atherosclerosis	Thoracic neoplasms	1	1	SMARCA4 (2)	0.12500	0.50000	7.792e-4	1.386e-3	261
Cerebellar ataxia, intellectual disability, and dysequilibrium	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	1	1	ATP8A2 (3)	0.12500	0.50000	7.792e-4	1.386e-3	260
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	Dysequilibrium syndrome	1	1	ATP8A2 (4)	0.12500	0.50000	7.792e-4	1.386e-3	260
Cerebellar ataxia, neuropathy, and vestibular areflexia	Hereditary sensory and motor neuropathy	1	1	RFC1 (4)	0.12500	0.50000	7.792e-4	1.386e-3	243
Cerebellar dysfunction with variable cognitive and behavioral abnormalities	Cervical dysplasia	1	0	POU4F1 (1)	0.12500	0.50000	7.792e-4	1.386e-3	60
Cerebellar dysfunction with variable cognitive and behavioral abnormalities	Uterine disease	1	1	POU4F1 (2)	0.12500	0.50000	7.792e-4	1.386e-3	60
Chromosome 1q21.1 deletion syndrome	Sutural cataract	1	1	GJA8 (5)	0.12500	0.50000	7.792e-4	1.386e-3	
Chronic progressive external ophthalmoplegia	Visceral neuropathy	1	1	RRM2B (2)	0.12500	0.50000	7.792e-4	1.386e-3	
De lange syndrome	Wilson-turner syndrome	1	1	HDAC8 (3)	0.12500	0.50000	7.792e-4	1.386e-3	301
Deafness, sensorineural, autosomal-mitochondrial type	Wolfram syndrome	1	0	ND1 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Demyelinating hereditary motor and sensory neuropathy	Proximal spinal muscular atrophy	1	1	FBLN5 (3)	0.12500	0.50000	7.792e-4	1.386e-3	
Collagen vi-related myopathy	Diffuse mesangial sclerosis	1	1	COL4A4 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Duane-radial ray syndrome	Laryngeal disease	1	1	IPO8 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Congenital malformation syndromes associated with short stature	Urethral syndrome	1	1	CDK5RAP2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Aortic arch syndrome	Vaginal neoplasms	1	1	IL2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Vascular remodeling	Whim syndrome	1	1	CXCR2 (5)	0.12500	0.50000	7.792e-4	1.386e-3	126
Osteogenic sarcoma	Woolly hair	1	1	RB1 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Cockayne syndrome	Xfe progeroid syndrome	1	1	ERCC4 (6)	0.12500	0.50000	7.792e-4	1.386e-3	
46,xx ovotesticular disorder of sex development	Genetic panhypopituitarism	1	1	SOX3 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Hepatic adenoma	Idiopathic diabetes	1	1	HNF1A (4)	0.12500	0.50000	7.792e-4	1.386e-3	
Exanthema	Mevalonate kinase deficiency	1	1	MVK (3)	0.12500	0.50000	7.792e-4	1.386e-3	
Idiopathic diabetes	Neonatal diabetes mellitus with congenital hypothyroidism	1	1	IL2RA (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Ductus arteriosus, patent	Hypercapnia	1	0	NPPA (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Dyschromatopsia	Retinitis punctata albescens	1	0	EYS (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Dyssegmental dysplasia	Stuve-wiedemann syndrome	1	1	HSPG2 (4)	0.12500	0.50000	7.792e-4	1.386e-3	146
Embryonal carcinoma	Hypereosinophilic syndrome	1	0	TNFSF8 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Cryoglobulinemia	Factor viii deficiency	1	0	IFNL4 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Congenital hyperinsulinism	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	1	1	HNF4A (6)	0.12500	0.50000	7.792e-4	1.386e-3	
Fanconi syndrome	Fanconi-bickel syndrome	1	1	SLC2A2 (5)	0.12500	0.50000	7.792e-4	1.386e-3	
17q12 microdeletion syndrome	Ovarian mucinous adenocarcinoma	1	1	HNF1B (2)	0.12500	0.50000	7.792e-4	1.386e-3	145
Aortic arch syndrome	Parapsoriasis	1	1	HLA-A (2)	0.12500	0.50000	7.792e-4	1.386e-3	179
Periapical periodontitis	Skin ulcer	1	1	FGF2 (2)	0.12500	0.50000	7.792e-4	1.386e-3	142
Intellectual disability with craniofacial anomalies and cardiac defects	Vein of galen aneurysm	1	1	KAT6A (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Collagen vi-related myopathy	Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome	1	1	COL4A3 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Intestinal vascular insufficiency	Paralytic strabismus	1	0	NEDD9 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Autoimmune pancreatitis	Intrahepatic bile duct cancer	1	1	HLA-DQB1 (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Intrahepatic bile duct cancer	Tongue cancer	1	0	HLA-DQB1 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Laryngeal neoplasms	Wernicke-korsakoff syndrome	1	1	ADH1B (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Blepharocheilodontic syndrome	Lobular carcinoma	1	1	CDH1 (6)	0.12500	0.50000	7.792e-4	1.386e-3	165
Contracture of multiple joints	Posterior column ataxia with retinitis pigmentosa	1	0	FLVCR2 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Cervical disc degenerative disorder	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	1	1	IL1B (2)	0.12500	0.50000	7.792e-4	1.386e-3	
Exanthema	Recurrent multifocal osteomyelitis	1	1	IL1RN (2)	0.12500	0.50000	7.792e-4	1.386e-3	219
Hallermanns syndrome	Right ventricular hypertrophy	1	0	GJA1 (1)	0.12500	0.50000	7.792e-4	1.386e-3	
Axenfeld-rieger syndrome	Saldino-mainzer syndrome	1	1	IFT140 (3)	0.12500	0.50000	7.792e-4	1.386e-3	
Periventricular heterotopia with microcephaly, autosomal recessive	Periventricular nodular heterotopia	1	1	ARFGEF2 (6)	0.07692	1.00000	7.793e-4	1.386e-3	
Periventricular laminar heterotopia	Periventricular nodular heterotopia	1	1	ARFGEF2 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Periventricular nodular heterotopia	periventricular nodular heterotopia 7	1	1	NEDD4L (6)	0.07692	1.00000	7.793e-4	1.386e-3	
Coronary thrombosis	platelet-type bleeding disorder 11	1	1	GP6 (2)	0.07692	1.00000	7.793e-4	1.386e-3	414
Hyperoxaluria	primary hyperoxaluria type 3	1	1	HOGA1 (7)	0.07692	1.00000	7.793e-4	1.386e-3	300
Prostatic disease	Tonic-clonic epilepsy	1	1	OXT (2)	0.07692	1.00000	7.793e-4	1.386e-3	
protein S deficiency	Thromboembolism	1	1	PROS1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital nonspherocytic hemolytic anemia	pyruvate kinase deficiency of red cells	1	1	PKLR (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital stationary night blindness	RHO-related retinopathy	1	1	RHO (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Hypophosphatemic rickets	Rickets, x-linked hypophosphatemic	1	1	PHEX (3)	0.07692	1.00000	7.793e-4	1.386e-3	
familial thoracic aortic aneurysm and aortic dissection	Rienhoff syndrome	1	1	TGFB3 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Rothmund-thomson syndrome	Rothmund-Thomson syndrome type 1	1	1	ANAPC1 (6)	0.07692	1.00000	7.793e-4	1.386e-3	94
MCM9-related gametogenic failure	Ovarian dysgenesis	1	1	MCM9 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
familial thoracic aortic aneurysm and aortic dissection	meester-loeys syndrome	1	0	BGN (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Ear, patella, short stature syndrome	meier-gorlin syndrome 2	1	1	ORC4 (3)	0.07692	1.00000	7.793e-4	1.386e-3	175
Ear, patella, short stature syndrome	meier-gorlin syndrome 3	1	1	ORC6 (3)	0.07692	1.00000	7.793e-4	1.386e-3	175
Ear, patella, short stature syndrome	meier-gorlin syndrome 4	1	1	CDT1 (3)	0.07692	1.00000	7.793e-4	1.386e-3	175
Ear, patella, short stature syndrome	meier-gorlin syndrome 6	1	1	GMNN (3)	0.07692	1.00000	7.793e-4	1.386e-3	175
MERTK-related retinopathy	Thromboembolism	1	1	MERTK (2)	0.07692	1.00000	7.793e-4	1.386e-3	36
methylmalonic acidemia due to transcobalamin receptor defect	Vitamin b deficiency	1	1	CD320 (2)	0.07692	1.00000	7.793e-4	1.386e-3	100
methylmalonic acidemia with homocystinuria, type cblJ	Vitamin b deficiency	1	1	ABCD4 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Vitamin b deficiency	1	1	MMUT (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Megaloblastic anemia	methylmalonic aciduria, cblA type	1	1	MMAA (2)	0.07692	1.00000	7.793e-4	1.386e-3	100
methylmalonic aciduria, cblA type	Vitamin b deficiency	1	1	MMAA (2)	0.07692	1.00000	7.793e-4	1.386e-3	100
Methylmalonyl-coa mutase deficiency	Vitamin b deficiency	1	1	MMUT (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Lennox-gastaut syndrome	Mowat-wilson syndrome	1	1	ZEB2 (7)	0.07692	1.00000	7.793e-4	1.386e-3	
Intestinal neoplasms	multiple endocrine neoplasia type 4	1	1	CDKN1B (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Frontotemporal dementia with or without amyotrophic lateral sclerosis	Multiple familial trichoepithelioma	1	1	CYLD (6)	0.07692	1.00000	7.793e-4	1.386e-3	
myasthenic syndrome, congenital, 1b, fast-channel	Postsynaptic congenital myasthenic syndrome	1	1	CHRNA1 (4)	0.07692	1.00000	7.793e-4	1.386e-3	5
Ductal carcinoma of breast	Myhre syndrome	1	1	SMAD4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Myofibrillar myopathy	myofibrillar myopathy 8	1	1	PYROXD1 (5)	0.07692	1.00000	7.793e-4	1.386e-3	3
Nanophthalmos	nanophthalmos 4	1	1	TMEM98 (7)	0.07692	1.00000	7.793e-4	1.386e-3	52
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome	Periprosthetic osteolysis	1	1	GLIS3 (3)	0.07692	1.00000	7.793e-4	1.386e-3	416
Majewski syndrome	nephronophthisis 12	1	1	TTC21B (2)	0.07692	1.00000	7.793e-4	1.386e-3	19
neurodegeneration with brain iron accumulation 4	Urinary system neoplasms	1	1	C19orf12 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	SQSTM1 (6)	0.07692	1.00000	7.793e-4	1.386e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	TBK1 (6)	0.07692	1.00000	7.793e-4	1.386e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 5	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	CCNF (5)	0.07692	1.00000	7.793e-4	1.386e-3	119
frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	CHMP2B (5)	0.07692	1.00000	7.793e-4	1.386e-3	119
frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	CYLD (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Frontotemporal dementia with or without amyotrophic lateral sclerosis	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	1	1	VCP (6)	0.07692	1.00000	7.793e-4	1.386e-3	119
Galloway-mowat syndrome	nephrotic syndrome, type 18	1	1	NUP133 (7)	0.07692	1.00000	7.793e-4	1.386e-3	20
generalized epilepsy-paroxysmal dyskinesia syndrome	Idiopathic generalized epilepsy	1	1	KCNMA1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Coronary thrombosis	Glycoprotein vi deficiency	1	0	GP6 (1)	0.07692	1.00000	7.793e-4	1.386e-3	414
Glycosylphosphatidylinositol biosynthesis defect	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	1	1	GPHN (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Glycosylphosphatidylinositol biosynthesis defect	glycosylphosphatidylinositol biosynthesis defect 21	1	1	PIGU (3)	0.07692	1.00000	7.793e-4	1.386e-3	427
Glycosylphosphatidylinositol biosynthesis defect	glycosylphosphatidylinositol biosynthesis defect 17	1	1	PIGH (4)	0.07692	1.00000	7.793e-4	1.386e-3	427
Glycosylphosphatidylinositol biosynthesis defect	glycosylphosphatidylinositol biosynthesis defect 18	1	1	PIGS (3)	0.07692	1.00000	7.793e-4	1.386e-3	427
Glycosylphosphatidylinositol biosynthesis defect	glycosylphosphatidylinositol biosynthesis defect 15	1	1	GPAA1 (4)	0.07692	1.00000	7.793e-4	1.386e-3	427
Congenital stationary night blindness	GPR179-related retinopathy	1	1	GPR179 (4)	0.07692	1.00000	7.793e-4	1.386e-3	160
Congenital stationary night blindness	GRM6-related retinopathy	1	1	GRM6 (4)	0.07692	1.00000	7.793e-4	1.386e-3	160
Groenouw corneal dystrophy	Hereditary corneal dystrophy	1	1	TGFBI (3)	0.07692	1.00000	7.793e-4	1.386e-3	
hereditary angioedema type 3	Thromboembolism	1	1	F12 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Atrioventricular septal defect	holt-oram syndrome	1	1	TBX5 (2)	0.07692	1.00000	7.793e-4	1.386e-3	106
17q23.1q23.2 microdeletion syndrome	Hydronephrosis	1	1	TBX4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Amelia	Hydronephrosis	1	1	TBX4 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Hyperoxaluria	mucopolysaccharidosis type 1	1	1	IDUA (2)	0.07692	1.00000	7.793e-4	1.386e-3	300
Angiofollicular ganglionic hyperplasia	Hyperoxaluria	1	1	IL6 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Eye neoplasms	Hypertension and brachydactyly syndrome	1	1	PDE3A (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Hypophosphatemic rickets	Peptic esophagitis	1	0	VDR (1)	0.07692	1.00000	7.793e-4	1.386e-3	
hypercalcemia, infantile, 2	Hypophosphatemic rickets	1	1	SLC34A1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Hypotrichosis simplex	Palmoplantar keratoderma and congenital alopecia	1	1	LSS (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Idiopathic generalized epilepsy	sick sinus syndrome 2, autosomal dominant	1	1	HCN4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
immunodeficiency 114, folate-responsive	Megaloblastic anemia	1	1	SLC19A1 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
immunodeficiency 60	Latent autoimmune diabetes in adults	1	1	BACH2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	1
Hyperoxaluria	immunodeficiency, common variable, 12	1	1	NFKB1 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital nonspherocytic hemolytic anemia	inherited glutathione synthetase deficiency	1	1	GSS (3)	0.07692	1.00000	7.793e-4	1.386e-3	12
Frontotemporal dementia with or without amyotrophic lateral sclerosis	inherited neurodegenerative disorder	1	1	KIF5A (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Hereditary corneal dystrophy	inherited prekallikrein deficiency	1	1	KLKB1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital nonspherocytic hemolytic anemia	Intellectual developmental disorder microcephaly cerebellar	1	1	CASK (4)	0.07692	1.00000	7.793e-4	1.386e-3	
trichohepatoenteric syndrome 1	Urinary system neoplasms	1	1	SKIC3 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Paralysis	Trismus	1	1	BCHE (2)	0.07692	1.00000	7.793e-4	1.386e-3	397
Congenital stationary night blindness	TRPM1-related retinopathy	1	1	TRPM1 (3)	0.07692	1.00000	7.793e-4	1.386e-3	160
Congenital nonspherocytic hemolytic anemia	Uridine monophosphate hydrolase deficiency	1	1	NT5C3A (3)	0.07692	1.00000	7.793e-4	1.386e-3	12
dyskeratosis congenita, autosomal dominant 2	Urinary system neoplasms	1	1	TERT (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Lipoma	Uterine benign neoplasm	1	0	BET1L (1)	0.07692	1.00000	7.793e-4	1.386e-3	138
Congenital aneurysm of ascending aorta	Vascular ehlers-danlos syndrome	1	1	COL3A1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Megaloblastic anemia	Vitamin b12-unresponsive methylmalonic acidemia	1	1	FUT2 (3)	0.07692	1.00000	7.793e-4	1.386e-3	100
Vitamin b deficiency	Vitamin b12-unresponsive methylmalonic acidemia	1	1	FUT2 (4)	0.07692	1.00000	7.793e-4	1.386e-3	100
Rothmund-thomson syndrome	Wrinkly skin syndrome	1	1	ATP6V0A2 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Hypophosphatemic rickets	X-linked dominant hypophosphatemic rickets	1	1	PHEX (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Hypophosphatemic rickets	X-linked hypophosphatemia	1	1	PHEX (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Hypophosphatemic rickets	X-linked nephrolithiasis	1	1	CLCN5 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
familial thoracic aortic aneurysm and aortic dissection	X-linked spondyloepimetaphyseal dysplasia	1	1	BGN (4)	0.07692	1.00000	7.793e-4	1.386e-3	
familial thoracic aortic aneurysm and aortic dissection	X-linked thoracic aortic aneurysm	1	1	BGN (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Hyperoxaluria	xanthinuria type II	1	1	MOCOS (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Intestinal neoplasms	xeroderma pigmentosum group A	1	1	XPA (2)	0.07692	1.00000	7.793e-4	1.386e-3	81
Xeroderma pigmentosum	xeroderma pigmentosum group A	1	1	XPA (7)	0.07692	1.00000	7.793e-4	1.386e-3	
Xeroderma pigmentosum	xeroderma pigmentosum group B	1	1	ERCC3 (7)	0.07692	1.00000	7.793e-4	1.386e-3	113
Xeroderma pigmentosum	xeroderma pigmentosum group C	1	1	XPC (8)	0.07692	1.00000	7.793e-4	1.386e-3	113
Xeroderma pigmentosum	xeroderma pigmentosum group E	1	1	DDB2 (7)	0.07692	1.00000	7.793e-4	1.386e-3	113
Xeroderma pigmentosum	xeroderma pigmentosum group F	1	1	ERCC4 (7)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital pes cavus	xeroderma pigmentosum group G	1	1	ERCC5 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Xeroderma pigmentosum	xeroderma pigmentosum group G	1	1	ERCC5 (6)	0.07692	1.00000	7.793e-4	1.386e-3	113
Xeroderma pigmentosum	xeroderma pigmentosum variant type	1	1	POLH (6)	0.07692	1.00000	7.793e-4	1.386e-3	113
Fetal akinesia deformation sequence	Schaaf-yang syndrome	1	1	MAGEL2 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Atrioventricular septal defect	schimke immuno-osseous dysplasia	1	1	SMARCAL1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Majewski syndrome	short-rib thoracic dysplasia 7 with or without polydactyly	1	1	WDR35 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Microcephalic dwarfism	Specific learning disability	1	1	DNMT3A (2)	0.07692	1.00000	7.793e-4	1.386e-3	338
heyn-sproul-jackson syndrome	Specific learning disability	1	1	DNMT3A (2)	0.07692	1.00000	7.793e-4	1.386e-3	338
Specific learning disability	Tatton-Brown-Rahman overgrowth syndrome	1	1	DNMT3A (2)	0.07692	1.00000	7.793e-4	1.386e-3	338
Osteochondroma	Specific learning disability	1	1	PTPN11 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Latent autoimmune diabetes in adults	spinocerebellar ataxia type 2	1	1	ATXN2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Eye neoplasms	Temperature-sensitive oculocutaneous albinism	1	1	TYR (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Megaloblastic anemia	Thiamine-responsive megaloblastic anemia	1	1	SLC19A2 (6)	0.07692	1.00000	7.793e-4	1.386e-3	
Lipoma	Thiamine-responsive megaloblastic anemia	1	1	SLC19A2 (7)	0.07692	1.00000	7.793e-4	1.386e-3	
Thyrotoxic periodic paralysis	X-linked epilepsy with or without intellectual disability and dysmorphic features	1	1	GABRA3 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Cachexia	TNF receptor 1-associated periodic fever syndrome	1	1	TNFRSF1A (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Tonic-clonic epilepsy	Trismus	1	1	BCHE (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital structural myopathy	TPM3-related myopathy	1	1	TPM3 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Megaloblastic anemia	transcobalamin ii deficiency	1	1	TCN2 (4)	0.07692	1.00000	7.793e-4	1.386e-3	100
transcobalamin ii deficiency	Vitamin b deficiency	1	1	TCN2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	100
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral	Intestinal neoplasms	1	1	CTNNB1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	81
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Intestinal neoplasms	1	1	CTNNB1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	81
Brain tumor-polyposis syndrome	Intestinal neoplasms	1	1	APC (2)	0.07692	1.00000	7.793e-4	1.386e-3	
hemochromatosis type 1	Intestinal obstruction	1	1	HFE (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital idiopathic intestinal pseudoobstruction	Intestinal obstruction	1	1	FLNA (5)	0.07692	1.00000	7.793e-4	1.386e-3	42
isolated microphthalmia 6	Nanophthalmos	1	1	PRSS56 (2)	0.07692	1.00000	7.793e-4	1.386e-3	52
Ductal carcinoma of breast	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	1	1	SMAD4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Hydronephrosis	Kidney atrophy	1	0	C12orf57 (1)	0.07692	1.00000	7.793e-4	1.386e-3	313
Cachexia	lymphoproliferative syndrome 2	1	1	CD27 (2)	0.07692	1.00000	7.793e-4	1.386e-3	43
Maleylacetoacetate isomerase deficiency	Vestibular disease	1	1	GSTZ1 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
malignant hyperthermia, susceptibility to, 5	Thyrotoxic periodic paralysis	1	1	CACNA1S (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Ductal carcinoma of breast	Esophageal stenosis	1	1	SOD2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Angina pectoris	Dysbiosis	1	0	TLR4 (1)	0.07692	1.00000	7.793e-4	1.386e-3	43
Ear, patella, short stature syndrome	meier-gorlin syndrome 7	1	1	CDC45 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Ear, patella, short stature syndrome	Trichiasis	1	0	MCM7 (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Ear, patella, short stature syndrome	meier-gorlin syndrome 5	1	1	CDC6 (3)	0.07692	1.00000	7.793e-4	1.386e-3	175
EEM syndrome	Hypotrichosis simplex	1	1	CDH3 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital aneurysm of ascending aorta	ehlers-danlos syndrome, vascular type	1	1	COL3A1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
ELOVL4-related maculopathy	Hereditary corneal dystrophy	1	1	ELOVL4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Erythrokeratodermia with ataxia	Hereditary corneal dystrophy	1	0	ELOVL4 (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Factor vii deficiency	Thromboembolism	1	1	F7 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Factor xii deficiency	Thromboembolism	1	1	F12 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Familial cylindromatosis	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	CYLD (5)	0.07692	1.00000	7.793e-4	1.386e-3	
fanconi anemia, complementation group s	Periventricular nodular heterotopia	1	1	BRCA1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
FAT4-related neurodevelopmental disorder	Periventricular nodular heterotopia	1	1	FAT4 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Folic acid deficiency	Megaloblastic anemia	1	1	DHFR (6)	0.07692	1.00000	7.793e-4	1.386e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	GRN (2)	0.07692	1.00000	7.793e-4	1.386e-3	119
frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	C9orf72 (5)	0.07692	1.00000	7.793e-4	1.386e-3	119
frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	CHCHD10 (6)	0.07692	1.00000	7.793e-4	1.386e-3	119
Atrioventricular septal defect	NR2F2 related multiple congenital anomalies/dysmorphic syndrome	1	1	NR2F2 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital stationary night blindness	NYX-related retinopathy	1	1	NYX (3)	0.07692	1.00000	7.793e-4	1.386e-3	160
Eye neoplasms	obsolete antenatal Bartter syndrome	1	1	SLC12A1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
obsolete Stüve-Wiedemann syndrome	Paranoia	1	1	LIFR (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Eye neoplasms	oculocutaneous albinism type 1	1	1	TYR (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Duane retraction syndrome	Osteolysis, hereditary, of carpal bones with or without nephropathy	1	1	MAFB (7)	0.07692	1.00000	7.793e-4	1.386e-3	
Duane retraction syndrome	Osteoma cutis	1	0	GNAS (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Ovarian dysgenesis	Ovarian teratoma	1	1	BMP15 (6)	0.07692	1.00000	7.793e-4	1.386e-3	149
Paralysis	Ventricular outflow obstruction	1	1	INS (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Paranoia	pitt-hopkins syndrome	1	1	TCF4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	283
Dopamine transporter deficiency syndrome	Paranoia	1	1	SLC6A3 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Paranoia	SLC6A3-related dopamine transporter deficiency syndrome	1	1	SLC6A3 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Paranoia	Tyrosine kinase 2 deficiency	1	1	TYK2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Paranoia	spermatogenic failure 46	1	1	DNAH8 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Partial deficiency of methylmalonyl-coenzyme a mutase	Vitamin b deficiency	1	1	MMUT (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Periodic paralysis with transient compartment-like syndrome	Thyrotoxic periodic paralysis	1	1	CACNA1S (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Periprosthetic osteolysis	Ulnar-mammary syndrome	1	1	TBX3 (7)	0.07692	1.00000	7.793e-4	1.386e-3	
Cyp2d6 deficiency	Tonic-clonic epilepsy	1	1	CYP2D6 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Dent disease type 1	Hypophosphatemic rickets	1	1	CLCN5 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Developmental coordination disorder	PTEN hamartoma tumor syndrome	1	1	PTEN (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Developmental coordination disorder	frontotemporal dementia and/or amyotrophic lateral sclerosis 3	1	1	SQSTM1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
amyotrophic lateral sclerosis type 1	Developmental coordination disorder	1	1	SOD1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Ankylosis	Developmental coordination disorder	1	1	FGFR2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Developmental delay with autism spectrum disorder	Eye neoplasms	1	1	HERC2 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Developmental delay with behavioral abnormalities	Specific learning disability	1	1	ADGRL1 (4)	0.07692	1.00000	7.793e-4	1.386e-3	338
dilated cardiomyopathy 1C	Myofibrillar myopathy	1	1	LDB3 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
dilated cardiomyopathy 1HH	Myofibrillar myopathy	1	1	BAG3 (6)	0.07692	1.00000	7.793e-4	1.386e-3	3
dilated cardiomyopathy 1I	Myofibrillar myopathy	1	1	DES (5)	0.07692	1.00000	7.793e-4	1.386e-3	3
Autoimmune musculoskeletal system disorder	Disabling pansclerotic morphea of childhood	1	1	STAT4 (4)	0.07692	1.00000	7.793e-4	1.386e-3	1
Distal myotilinopathy	Myofibrillar myopathy	1	1	MYOT (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum	Ear, patella, short stature syndrome	1	0	DONSON (1)	0.07692	1.00000	7.793e-4	1.386e-3	175
Dna2-related mitochondrial dna deletion syndrome	Rothmund-thomson syndrome	1	1	DNA2 (4)	0.07692	1.00000	7.793e-4	1.386e-3	94
Dominant dystrophic epidermolysis bullosa with absence of skin	Duane retraction syndrome	1	1	COL7A1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	252
Dominant dystrophic epidermolysis bullosa, albopapular type	Duane retraction syndrome	1	0	COL7A1 (1)	0.07692	1.00000	7.793e-4	1.386e-3	252
Duane retraction syndrome	recessive dystrophic epidermolysis bullosa	1	1	COL7A1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	252
Duane retraction syndrome	Osteochondroma	1	1	PTPN11 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Duane retraction syndrome	duane retraction syndrome 2	1	1	CHN1 (7)	0.07692	1.00000	7.793e-4	1.386e-3	
2q37 microdeletion syndrome	Diabetes complications	1	1	HDAC4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Acral self-healing collodion baby	Congenital nonbullous ichthyosiform erythroderma	1	1	TGM1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	232
acrofacial dysostosis, weyers type	Majewski syndrome	1	1	EVC2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Aland island eye disease	Congenital stationary night blindness	1	1	CACNA1F (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Alanine-glyoxylate aminotransferase deficiency	Hyperoxaluria	1	1	AGXT (8)	0.07692	1.00000	7.793e-4	1.386e-3	300
Alexander disease	Trigeminal neuralgia	1	1	GFAP (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Alstrom syndrome	Fetal akinesia deformation sequence	1	1	ALMS1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	5
amyotrophic lateral sclerosis type 22	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	TUBA4A (3)	0.07692	1.00000	7.793e-4	1.386e-3	
amyotrophic lateral sclerosis, susceptibility to, 24	Majewski syndrome	1	1	NEK1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	19
amyotrophic lateral sclerosis, susceptibility to, 25	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	KIF5A (2)	0.07692	1.00000	7.793e-4	1.386e-3	
ciliary dyskinesia, primary, 39	Hypophosphatemic rickets	1	1	LRRC56 (2)	0.07692	1.00000	7.793e-4	1.386e-3	17
ciliopathy-IFT74	Majewski syndrome	1	1	IFT74 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
cobblestone lissencephaly without muscular or ocular involvement	Corneal disease	1	1	LAMB1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Coenzyme q10 deficiency	primary coenzyme Q10 deficiency 8	1	1	COQ6 (4)	0.07692	1.00000	7.793e-4	1.386e-3	399
Coenzyme q10 deficiency	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	1	1	PDSS1 (5)	0.07692	1.00000	7.793e-4	1.386e-3	399
Coenzyme q10 deficiency	Coq7-related distal hereditary motor neuropathy	1	1	COQ7 (4)	0.07692	1.00000	7.793e-4	1.386e-3	399
coffin-lowry syndrome	Specific learning disability	1	1	RPS6KA3 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Colonic disease	Specific learning disability	1	0	GHR (1)	0.07692	1.00000	7.793e-4	1.386e-3	
combined immunodeficiency due to STIM1 deficiency	Congenital structural myopathy	1	1	STIM1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
complex cortical dysplasia with other brain malformations 2	Duane retraction syndrome	1	1	KIF5C (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital aneurysm of ascending aorta	Congenital aphakia	1	0	FOXE3 (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital aphakia	familial thoracic aortic aneurysm and aortic dissection	1	1	FOXE3 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital cornea plana	Hereditary corneal dystrophy	1	1	KERA (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Autoimmune musculoskeletal system disorder	Benign familial pemphigus	1	1	ATP2C1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Bile duct neoplasms	Papilloma	1	0	EGFR (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Bilirubin metabolism disease	Dihydropyrimidinase deficiency	1	1	DPYS (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Blepharophimosis-ptosis-epicanthus inversus syndrome	Duane retraction syndrome	1	1	FOXL2 (6)	0.07692	1.00000	7.793e-4	1.386e-3	
Bone remodeling disease	primary ciliary dyskinesia 7	1	1	DNAH11 (2)	0.07692	1.00000	7.793e-4	1.386e-3	9
Brachydactyly with hypertension	Eye neoplasms	1	1	PDE3A (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Atrioventricular septal defect	Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome	1	1	MEF2C (2)	0.07692	1.00000	7.793e-4	1.386e-3	106
BRCA1-related cancer predisposition	Periventricular nodular heterotopia	1	1	BRCA1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Brooke-spiegler syndrome	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	CYLD (6)	0.07692	1.00000	7.793e-4	1.386e-3	
Butyrylcholinesterase deficiency	Tonic-clonic epilepsy	1	1	BCHE (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Butyrylcholinesterase deficiency	Paralysis	1	1	BCHE (5)	0.07692	1.00000	7.793e-4	1.386e-3	397
CACNA1F-related retinopathy	Congenital stationary night blindness	1	1	CACNA1F (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Cardiac-urogenital syndrome	Nanophthalmos	1	1	MYRF (7)	0.07692	1.00000	7.793e-4	1.386e-3	
cardiomyopathy, dilated, 2l	Myofibrillar myopathy	1	1	LDB3 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
cataract 50 with or without glaucoma	Stomach disease	1	1	TRPM3 (2)	0.07692	1.00000	7.793e-4	1.386e-3	122
Cataract-alopecia-sclerodactyly syndrome	Hypotrichosis simplex	1	1	LSS (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Cerebral atherosclerosis	Rin2 syndrome	1	1	RIN2 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
cerebroretinal microangiopathy with calcifications and cysts 2	Lipoma	1	1	STN1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	138
Charcot-Marie-Tooth disease type 2D	Congenital pes cavus	1	1	GARS1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	13
Charcot-Marie-Tooth disease type 4C	Congenital pes cavus	1	1	SH3TC2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Charcot-Marie-Tooth disease X-linked dominant 1	Congenital pes cavus	1	1	GJB1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Charcot-Marie-tooth disease, axonal, type 2DD	Vestibular disease	1	1	ATP1A1 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Cholecystitis	Mucosulfatidosis	1	1	SUMF1 (3)	0.07692	1.00000	7.793e-4	1.386e-3	239
Choroidal neovascularization	Diabetes complications	1	1	VEGFA (2)	0.07692	1.00000	7.793e-4	1.386e-3	
arrhythmogenic right ventricular dysplasia 5	Xeroderma pigmentosum	1	1	TMEM43 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Asphyxia	Majewski syndrome	1	1	IFT80 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
asphyxiating thoracic dystrophy 2	Majewski syndrome	1	1	IFT80 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
asphyxiating thoracic dystrophy 3	Majewski syndrome	1	1	DYNC2H1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Ataxia with oculomotor apraxia and hypoalbuminemia	Coenzyme q10 deficiency	1	1	APTX (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Angina pectoris	Autoimmune uveitis	1	1	CXCL8 (2)	0.07692	1.00000	7.793e-4	1.386e-3	43
Autoimmune uveitis	Cachexia	1	1	CXCL8 (2)	0.07692	1.00000	7.793e-4	1.386e-3	43
Autoinflammation with arthritis and vasculitis	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	TBK1 (7)	0.07692	1.00000	7.793e-4	1.386e-3	
autosomal dominant macrothrombocytopenia	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	TUBA4A (3)	0.07692	1.00000	7.793e-4	1.386e-3	
autosomal recessive cutis laxa type 2A	Rothmund-thomson syndrome	1	1	ATP6V0A2 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
autosomal recessive cutis laxa type 2B	Rothmund-thomson syndrome	1	1	PYCR1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	94
autosomal recessive cutis laxa type 2C	Rothmund-thomson syndrome	1	1	ATP6V1E1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	94
autosomal recessive cutis laxa type 2D	Rothmund-thomson syndrome	1	1	ATP6V1A (2)	0.07692	1.00000	7.793e-4	1.386e-3	94
Avellino corneal dystrophy	Hereditary corneal dystrophy	1	1	TGFBI (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Beemer-langer syndrome	Majewski syndrome	1	0	IFT80 (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital factor vii deficiency	Thromboembolism	1	1	F7 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital factor xii deficiency	Thromboembolism	1	1	F12 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital generalized hypercontractile muscle stiffness syndrome	Congenital structural myopathy	1	1	TPM3 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital hypotrichosis with juvenile macular dystrophy	Hypotrichosis simplex	1	1	CDH3 (3)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Hereditary corneal dystrophy	1	1	ELOVL4 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital malformation of cornea	Hereditary corneal dystrophy	1	0	KERA (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital muscular hypertrophy-cerebral syndrome	Congenital pes cavus	1	1	SMC1A (2)	0.07692	1.00000	7.793e-4	1.386e-3	
congenital myasthenic syndrome 10	Fetal akinesia deformation sequence	1	1	DOK7 (6)	0.07692	1.00000	7.793e-4	1.386e-3	5
congenital myasthenic syndrome 10	Postsynaptic congenital myasthenic syndrome	1	1	DOK7 (3)	0.07692	1.00000	7.793e-4	1.386e-3	5
congenital myasthenic syndrome 2A	Postsynaptic congenital myasthenic syndrome	1	1	CHRNB1 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
congenital myasthenic syndrome 2C	Postsynaptic congenital myasthenic syndrome	1	1	CHRNB1 (4)	0.07692	1.00000	7.793e-4	1.386e-3	
congenital myasthenic syndrome 8	Postsynaptic congenital myasthenic syndrome	1	1	AGRN (4)	0.07692	1.00000	7.793e-4	1.386e-3	5
congenital myasthenic syndrome 9	Fetal akinesia deformation sequence	1	1	MUSK (5)	0.07692	1.00000	7.793e-4	1.386e-3	5
congenital myasthenic syndrome 9	Postsynaptic congenital myasthenic syndrome	1	1	MUSK (4)	0.07692	1.00000	7.793e-4	1.386e-3	5
Congenital prekallikrein deficiency	Hereditary corneal dystrophy	1	1	KLKB1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital aneurysm of ascending aorta	Congenital primary aphakia	1	1	FOXE3 (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital primary aphakia	familial thoracic aortic aneurysm and aortic dissection	1	1	FOXE3 (6)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital sensory neuropathy	Tonic-clonic epilepsy	1	1	NGF (3)	0.07692	1.00000	7.793e-4	1.386e-3	142
Congenital aneurysm of ascending aorta	Connective and soft tissue disorder	1	0	COL3A1 (1)	0.07692	1.00000	7.793e-4	1.386e-3	
Cornea plana	Hereditary corneal dystrophy	1	1	KERA (5)	0.07692	1.00000	7.793e-4	1.386e-3	
Corneal disease	Rupture, spontaneous	1	1	COL5A1 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Corneal disease	pitt-hopkins syndrome	1	1	TCF4 (2)	0.07692	1.00000	7.793e-4	1.386e-3	283
Coronary thrombosis	Intellectual developmental disorder with retinitis pigmentosa	1	1	SCAPER (4)	0.07692	1.00000	7.793e-4	1.386e-3	
Coronary thrombosis	intellectual developmental disorder and retinitis pigmentosa; IDDRP	1	1	SCAPER (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Congenital nonspherocytic hemolytic anemia	Coronary vessel anomalies	1	1	GCLC (3)	0.07692	1.00000	7.793e-4	1.386e-3	12
cranioectodermal dysplasia 2	Majewski syndrome	1	1	WDR35 (2)	0.07692	1.00000	7.793e-4	1.386e-3	
Craniofacial anomalies with anterior segment dysgenesis	Hereditary corneal dystrophy	1	1	VSX1 (5)	0.07692	1.00000	7.793e-4	1.386e-3	87
Kidney disease	Nephronophthisis-like nephropathy	2	2	XPNPEP3 (6), SLC41A1 (5)	0.00469	1.00000	7.601e-4	1.386e-3	
Giant cell arteritis	Proliferative diabetic retinopathy	2	1	CCL2 (1), HLA-B (3)	0.03774	0.11111	7.942e-4	1.413e-3	
Amblyopia	Leukodystrophy	2	0	GALC (1), SLC9A6 (1)	0.04000	0.08000	8.031e-4	1.428e-3	
12p12.1 microdeletion syndrome	Vertebral column disorder	1	1	SOX5 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
1p36 deletion syndrome	Schwartz-Jampel syndrome type 1	1	1	HSPG2 (3)	0.07143	1.00000	8.443e-4	1.478e-3	146
1p36 deletion syndrome	Silverman-Handmaker type dyssegmental dysplasia	1	1	HSPG2 (3)	0.07143	1.00000	8.443e-4	1.478e-3	146
1p36 deletion syndrome	radio-tartaglia syndrome	1	1	SPEN (3)	0.07143	1.00000	8.443e-4	1.478e-3	146
2-methylbutyryl-coa dehydrogenase deficiency	Rheumatic disease	1	1	ACADSB (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Abcd syndrome	Waardenburg syndrome	1	1	EDNRB (7)	0.07143	1.00000	8.443e-4	1.478e-3	
Acatalasia	Optic neuritis	1	1	CAT (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Acral self-healing collodion baby	Congenital ichthyosis	1	1	TGM1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	232
Agammaglobulinemia	immunodeficiency 14b, autosomal recessive	1	1	PIK3CD (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Agammaglobulinemia	immunodeficiency 14	1	1	PIK3CD (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Agammaglobulinemia	Short syndrome	1	1	PIK3R1 (6)	0.07143	1.00000	8.443e-4	1.478e-3	
Agammaglobulinemia	agammaglobulinemia 7, autosomal recessive	1	1	PIK3R1 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Agammaglobulinemia	agammaglobulinemia 10, autosomal dominant	1	1	SPI1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	184
Agammaglobulinemia	agammaglobulinemia 2, autosomal recessive	1	1	IGLL1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	184
Agammaglobulinemia	agammaglobulinemia 3, autosomal recessive	1	1	CD79A (3)	0.07143	1.00000	8.443e-4	1.478e-3	184
Agammaglobulinemia	agammaglobulinemia 4, autosomal recessive	1	1	BLNK (4)	0.07143	1.00000	8.443e-4	1.478e-3	184
Agammaglobulinemia	agammaglobulinemia 6, autosomal recessive	1	1	CD79B (3)	0.07143	1.00000	8.443e-4	1.478e-3	184
Antecubital pterygium syndrome	Malunion fracture	1	1	PSD3 (3)	0.07143	1.00000	8.443e-4	1.478e-3	394
Congenital folate absorption defect	Hyperhomocysteinemia	1	1	SLC46A1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
congenital heart defects, multiple types, 7	Lymphatic malformation	1	1	FLT4 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Byzanthine arch palate	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	1	1	NSDHL (3)	0.07143	1.00000	8.443e-4	1.478e-3	398
Congenital hypoplasia of pancreas	Maturity-onset diabetes of the young	1	1	PDX1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital ichthyosis	Congenital ichthyosis with hypotrichosis syndrome	1	1	ST14 (3)	0.07143	1.00000	8.443e-4	1.478e-3	232
Congenital microvillous atrophy	Progressive intrahepatic cholestasis	1	1	MYO5B (4)	0.07143	1.00000	8.443e-4	1.478e-3	
congenital myasthenic syndrome 7	Thyroid gland neoplasms	1	1	SYT2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital nephrotic syndrome	Hyperhomocysteinemia	1	1	NPHS1 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital nephrotic syndrome	Steroid-resistant nephrotic syndrome	1	1	NPHS1 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
congenital nephrotic syndrome, Finnish type	Hyperhomocysteinemia	1	1	NPHS1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
congenital nephrotic syndrome, Finnish type	Steroid-resistant nephrotic syndrome	1	1	NPHS1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital primary lymphedema of gordon	Lymphatic malformation	1	1	VEGFC (6)	0.07143	1.00000	8.443e-4	1.478e-3	
Craniofacial deafness hand syndrome	Waardenburg syndrome	1	1	PAX3 (7)	0.07143	1.00000	8.443e-4	1.478e-3	186
craniosynostosis 2	Posterior cortical atrophy	1	1	MSX2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	108
Cryptogenic multifocal ulcerous stenosing enteritis	Platelet disorder	1	1	PLA2G4A (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Basal ganglia disease	Cyp2d6 deficiency	1	1	CYP2D6 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Cyp2d6 deficiency	Occupational disease	1	1	CYP2D6 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Cystic kidney disease with ventriculomegaly	Steroid-resistant nephrotic syndrome	1	1	CRB2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	Platelet disorder	1	1	PLA2G4A (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Deaf blind hypopigmentation syndrome	Waardenburg syndrome	1	1	SOX10 (8)	0.07143	1.00000	8.443e-4	1.478e-3	
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Lymphatic malformation	1	1	PIEZO1 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Developmental delay with autism spectrum disorder	Macular and posterior pole degeneration	1	1	HERC2 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Costello syndrome	dilated cardiomyopathy 1D	1	1	TNNT2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
dilated cardiomyopathy 1I	Hyperhomocysteinemia	1	1	DES (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Dubin-johnson syndrome	Hyperbilirubinemia	1	1	ABCC2 (6)	0.07143	1.00000	8.443e-4	1.478e-3	
ciliary dyskinesia, primary, 39	Costello syndrome	1	1	LRRC56 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Byzanthine arch palate	Ck syndrome	1	1	NSDHL (7)	0.07143	1.00000	8.443e-4	1.478e-3	398
classic homocystinuria	Hyperhomocysteinemia	1	1	CBS (3)	0.07143	1.00000	8.443e-4	1.478e-3	
combined immunodeficiency due to ZAP70 deficiency	Posterior cortical atrophy	1	1	ZAP70 (2)	0.07143	1.00000	8.443e-4	1.478e-3	108
Congenital abnormalities	NOTCH1-related AOS spectrum disorder	1	1	NOTCH1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital abnormalities	Middle lobe syndrome	1	1	SALL1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital arthrogryposis with anterior horn cell disease	Lethal congenital contracture syndrome	1	1	GLE1 (6)	0.07143	1.00000	8.443e-4	1.478e-3	
Arginase deficiency	Hyperbilirubinemia	1	1	ARG1 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Arthrogryposis with anterior horn cell disease	Lethal congenital contracture syndrome	1	1	GLE1 (6)	0.07143	1.00000	8.443e-4	1.478e-3	
arthrogryposis, renal dysfunction, and cholestasis 1	Progressive intrahepatic cholestasis	1	1	VPS33B (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Ataxia with polyneuropathy	Neuropathy, ataxia, and retinitis pigmentosa	1	1	ATP6 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Atypical fanconi syndrome	Maturity-onset diabetes of the young	1	1	HNF4A (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Agammaglobulinemia	autosomal agammaglobulinemia	1	1	TCF3 (4)	0.07143	1.00000	8.443e-4	1.478e-3	184
autosomal dominant pseudohypoaldosteronism type 1	Pseudohypoparathyroidism	1	1	NR3C2 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
autosomal recessive osteopetrosis 2	Hypercalcemia	1	1	TNFSF11 (3)	0.07143	1.00000	8.443e-4	1.478e-3	259
bardet-biedl syndrome 16	Senior-loken syndrome	1	1	SDCCAG8 (6)	0.07143	1.00000	8.443e-4	1.478e-3	8
Beta-propeller protein-associated neurodegeneration	Oculocutaneous albinism	1	1	WDR45 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Bile duct neoplasms	Giant cell glioblastoma	1	1	EGFR (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Basal ganglia disease	Biotin-responsive basal ganglia disease	1	1	SLC19A3 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Basal ganglia disease	Biotin-thiamine-responsive basal ganglia disease	1	1	SLC19A3 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Bisphosphoglycerate mutase deficiency	Erythrocytosis	1	1	BPGM (4)	0.07143	1.00000	8.443e-4	1.478e-3	24
bleeding disorder, platelet-type, 21	Platelet disorder	1	1	FLI1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
bleeding disorder, platelet-type, 22	Platelet disorder	1	1	EPHB2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	67
Blomstrand lethal chondrodysplasia	Pseudohypoparathyroidism	1	1	PTH1R (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Brunet-wagner neurodevelopmental syndrome	Rheumatic disease	1	1	RBL2 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Byzanthine arch palate	Congenital pectus carinatum	1	0	FBN1 (1)	0.07143	1.00000	8.443e-4	1.478e-3	
Byzanthine arch palate	Coronary artery dissection	1	0	FBN1 (1)	0.07143	1.00000	8.443e-4	1.478e-3	
C9 deficiency	Macular and posterior pole degeneration	1	1	C9 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Café-au-lait macules	Giant cell glioblastoma	1	0	LZTR1 (1)	0.07143	1.00000	8.443e-4	1.478e-3	
Avoidant restrictive food intake disorder	Carotid artery stenosis	1	1	APOE (2)	0.07143	1.00000	8.443e-4	1.478e-3	
CEP164-related ciliopathy	Senior-loken syndrome	1	1	CEP164 (2)	0.07143	1.00000	8.443e-4	1.478e-3	8
CEP290-related ciliopathy	Senior-loken syndrome	1	1	CEP290 (7)	0.07143	1.00000	8.443e-4	1.478e-3	
Charcot-Marie-Tooth disease X-linked dominant 1	Sensory neuropathy	1	1	GJB1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Chromosome xq27.3-q28 duplication syndrome	Congenital abnormalities	1	1	FMR1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Lethal congenital contracture syndrome	PIP5K1C-related neurodevelopmental disorder	1	1	PIP5K1C (6)	0.07143	1.00000	8.443e-4	1.478e-3	61
Platelet disorder	platelet-type bleeding disorder 11	1	1	GP6 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Constitutional mismatch repair deficiency	POLE-related polyposis and colorectal cancer syndrome	1	1	POLE (2)	0.07143	1.00000	8.443e-4	1.478e-3	
progressive familial intrahepatic cholestasis type 3	Progressive intrahepatic cholestasis	1	1	ABCB4 (5)	0.07143	1.00000	8.443e-4	1.478e-3	135
Patent ductus venosus	Pruritus	1	1	AHR (2)	0.07143	1.00000	8.443e-4	1.478e-3	203
Pruritus	Ureteral neoplasms	1	0	AHR (1)	0.07143	1.00000	8.443e-4	1.478e-3	203
Pruritus	Urinary bladder calculi	1	0	AHR (1)	0.07143	1.00000	8.443e-4	1.478e-3	203
pseudohyperaldosteronism type 2	Pseudohypoparathyroidism	1	1	NR3C2 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Pseudohypoaldosteronism	Pseudohypoparathyroidism	1	1	NR3C2 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
pseudohypoaldosteronism type 2D	Pseudohypoparathyroidism	1	1	KLHL3 (7)	0.07143	1.00000	8.443e-4	1.478e-3	70
pseudohypoaldosteronism type 2E	Pseudohypoparathyroidism	1	1	CUL3 (7)	0.07143	1.00000	8.443e-4	1.478e-3	70
pseudohypoaldosteronism, type IB1, autosomal recessive	Pseudohypoparathyroidism	1	1	SCNN1A (6)	0.07143	1.00000	8.443e-4	1.478e-3	70
Macular and posterior pole degeneration	RDH5-related retinopathy	1	1	RDH5 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Retinopathy-sensory neuropathy syndrome	Sensory neuropathy	1	1	FLVCR1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Lethal congenital contracture syndrome	Rigidity and multifocal seizure syndrome, lethal neonatal	1	1	BRAT1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Progressive external ophthalmoplegia	Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	1	1	RRM2B (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Oculocutaneous albinism	Rufous oculocutaneous albinism	1	1	TYRP1 (4)	0.07143	1.00000	8.443e-4	1.478e-3	302
Maturity-onset diabetes of the young	maturity-onset diabetes of the young type 8	1	1	CEL (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Giant cell glioblastoma	Metaphyseal enchondromatosis	1	1	IDH1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Hyperhomocysteinemia	methylcobalamin deficiency type cblG	1	1	MTR (2)	0.07143	1.00000	8.443e-4	1.478e-3	155
Lymphatic malformation	microcephaly with intellectual disability	1	1	MCPH1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Progressive external ophthalmoplegia	1	1	SLC25A4 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Motor skills disorder	PTEN hamartoma tumor syndrome	1	1	PTEN (2)	0.07143	1.00000	8.443e-4	1.478e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Motor skills disorder	1	1	SQSTM1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
amyotrophic lateral sclerosis type 1	Motor skills disorder	1	1	SOD1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Ankylosis	Motor skills disorder	1	0	FGFR2 (1)	0.07143	1.00000	8.443e-4	1.478e-3	
mucopolysaccharidosis type 4B	Progressive intrahepatic cholestasis	1	1	GLB1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
myopathy caused by variation in POMT1	Sensory neuropathy	1	1	POMT1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Lethal congenital contracture syndrome	neonatal-onset encephalopathy with rigidity and seizures	1	1	BRAT1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
nephronophthisis 1	Senior-loken syndrome	1	1	NPHP1 (6)	0.07143	1.00000	8.443e-4	1.478e-3	8
nephronophthisis 2	Senior-loken syndrome	1	1	INVS (3)	0.07143	1.00000	8.443e-4	1.478e-3	8
nephronophthisis 4	Senior-loken syndrome	1	1	NPHP4 (7)	0.07143	1.00000	8.443e-4	1.478e-3	8
nephrotic syndrome, type 21	Steroid-resistant nephrotic syndrome	1	1	AVIL (2)	0.07143	1.00000	8.443e-4	1.478e-3	20
Congenital abnormalities	neurodegenerative syndrome due to cerebral folate transport deficiency	1	1	FOLR1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Lethal congenital contracture syndrome	neurodevelopmental disorder with cerebellar atrophy and with or without seizures	1	1	BRAT1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	Raynaud disease	1	1	HNRNPK (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Basal ganglia disease	neuroferritinopathy	1	1	FTL (2)	0.07143	1.00000	8.443e-4	1.478e-3	
neuropathy, hereditary sensory and autonomic, type 2A	Pseudohypoparathyroidism	1	1	WNK1 (7)	0.07143	1.00000	8.443e-4	1.478e-3	
neuropathy, hereditary sensory and autonomic, type 2A	Sensory neuropathy	1	1	WNK1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	173
obsolete Birt-Hogg-Dube syndrome	Omphalocele exstrophy imperforate anus	1	1	FLCN (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Lymphatic malformation	obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	1	1	PIEZO1 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Acro-dermo-ungual-lacrimal-tooth syndrome	Omphalocele exstrophy imperforate anus	1	1	TP63 (2)	0.07143	1.00000	8.443e-4	1.478e-3	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Omphalocele exstrophy imperforate anus	1	1	TP63 (5)	0.07143	1.00000	8.443e-4	1.478e-3	30
Limb-mammary syndrome	Omphalocele exstrophy imperforate anus	1	1	TP63 (5)	0.07143	1.00000	8.443e-4	1.478e-3	30
Omphalocele exstrophy imperforate anus	Rudiger syndrome	1	0	TP63 (1)	0.07143	1.00000	8.443e-4	1.478e-3	30
Maturity-onset diabetes of the young	pancreatic agenesis 1	1	1	PDX1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Erythrocytosis	Paraneoplastic syndrome	1	1	EPO (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Paris-trousseau thrombocytopenia	Platelet disorder	1	1	FLI1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Neuropathy, ataxia, and retinitis pigmentosa	Periodic paralysis with later-onset distal motor neuropathy	1	0	ATP8 (1)	0.07143	1.00000	8.443e-4	1.478e-3	26
Neuropathy, ataxia, and retinitis pigmentosa	Peripheral neuropathy with sensorineural hearing impairment syndrome	1	1	GJB3 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Peripheral primitive neuroectodermal tumor	Platelet disorder	1	1	FLI1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Macular and posterior pole degeneration	trichohepatoenteric syndrome 2	1	1	SKIC2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital abnormalities	Upper extremity deformity, congenital	1	1	EZH2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Steroid-resistant nephrotic syndrome	Ventriculomegaly with cystic kidney disease	1	1	CRB2 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Cutaneous polyarteritis nodosa	Vertebral column disorder	1	1	SMAD3 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Carbamazepine hypersensitivity	Vertebral column disorder	1	1	HLA-B (2)	0.07143	1.00000	8.443e-4	1.478e-3	179
Thrombophlebitis	Vertebral column disorder	1	1	HLA-B (2)	0.07143	1.00000	8.443e-4	1.478e-3	179
Hypercalcemia	vitamin D-dependent rickets, type 1A	1	1	CYP27B1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Waardenburg syndrome	Waardenburg syndrome type 4A	1	1	EDNRB (7)	0.07143	1.00000	8.443e-4	1.478e-3	
Waardenburg syndrome	Waardenburg syndrome type 4C	1	1	SOX10 (8)	0.07143	1.00000	8.443e-4	1.478e-3	
Optic neuritis	Wilson disease	1	1	ATP7B (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Oculocutaneous albinism	X-linked cerebral cerebellar coloboma syndrome	1	1	WDR45 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Oculocutaneous albinism	X-linked optic atrophy	1	1	WDR45 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Waardenburg syndrome	Yemenite deaf-blind hypopigmentation syndrome	1	1	SOX10 (8)	0.07143	1.00000	8.443e-4	1.478e-3	
Basal ganglia disease	Genetic hyperferritinemia without iron overload	1	1	FTL (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Achondroplasia	Giant cell glioblastoma	1	1	FGFR3 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Camptodactyly, tall stature, and hearing loss syndrome	Giant cell glioblastoma	1	1	FGFR3 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Glycine n-methyltransferase deficiency	Hyperhomocysteinemia	1	1	GNMT (6)	0.07143	1.00000	8.443e-4	1.478e-3	
Glycoprotein vi deficiency	Platelet disorder	1	0	GP6 (1)	0.07143	1.00000	8.443e-4	1.478e-3	
Hearing loss with hypertrophic cardiomyopathy	Waardenburg syndrome	1	0	MYO6 (1)	0.07143	1.00000	8.443e-4	1.478e-3	
Erythrocytosis	Hemoglobin high altitude adaptation	1	1	EGLN1 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Hengel maroofian schols syndrome	Malunion fracture	1	1	BCAS3 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Basal ganglia disease	hereditary hyperferritinemia with congenital cataracts	1	1	FTL (2)	0.07143	1.00000	8.443e-4	1.478e-3	
hereditary sensory and autonomic neuropathy type 4	Sensory neuropathy	1	1	NTRK1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	173
hereditary thrombocytopenia and hematologic cancer predisposition syndrome	Platelet disorder	1	1	RUNX1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Homocystinuria	Hyperhomocysteinemia	1	1	CBS (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Esophageal stenosis	Hyperbilirubinemia	1	1	SOD2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
hypomyelinating leukodystrophy 2	Lymphatic malformation	1	1	GJC2 (6)	0.07143	1.00000	8.443e-4	1.478e-3	
Hyperbilirubinemia	immunodeficiency 15a	1	1	IKBKB (3)	0.07143	1.00000	8.443e-4	1.478e-3	
intellectual developmental disorder and retinitis pigmentosa; IDDRP	Intracranial hemorrhage	1	1	SCAPER (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Intellectual developmental disorder dysmorphic brain	Malunion fracture	1	1	TRAPPC9 (4)	0.07143	1.00000	8.443e-4	1.478e-3	394
Byzanthine arch palate	Intellectual developmental disorder microcephaly strabismus behaviora	1	1	POGZ (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Early-onset hypertension with severe exacerbation in pregnancy	Pseudohypoparathyroidism	1	1	NR3C2 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
ectodermal dysplasia and immunodeficiency 2	Giant cell glioblastoma	1	1	NFKBIA (2)	0.07143	1.00000	8.443e-4	1.478e-3	
EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition	Erythrocytosis	1	1	EGLN1 (6)	0.07143	1.00000	8.443e-4	1.478e-3	
Eiken skeletal dysplasia	Pseudohypoparathyroidism	1	1	PTH1R (6)	0.07143	1.00000	8.443e-4	1.478e-3	
Byzanthine arch palate	Encephaloclastic proliferative vasculopathy	1	1	FLVCR2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
EPHB4-associated vascular malformation spectrum	Lymphatic malformation	1	1	EPHB4 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
epidermodysplasia verruciformis, susceptibility to, 4	Thyroid gland neoplasms	1	1	RHOH (2)	0.07143	1.00000	8.443e-4	1.478e-3	
fanconi anemia complementation group e	Omphalocele exstrophy imperforate anus	1	1	FANCE (2)	0.07143	1.00000	8.443e-4	1.478e-3	30
FLVCR1-related retinopathy with or without ataxia	Sensory neuropathy	1	1	FLVCR1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
focal segmental glomerulosclerosis 4, susceptibility to	Steroid-resistant nephrotic syndrome	1	1	APOL1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
focal segmental glomerulosclerosis 9	Steroid-resistant nephrotic syndrome	1	1	CRB2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Byzanthine arch palate	Fowler syndrome	1	1	FLVCR2 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital abnormalities	fragile x syndrome	1	1	FMR1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
schimke immuno-osseous dysplasia	Steroid-resistant nephrotic syndrome	1	1	SMARCAL1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	20
Hyperbilirubinemia	severe combined immunodeficiency due to IKK2 deficiency	1	1	IKBKB (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Spinocerebellar ataxia blindness deafness syndrome	Zellweger spectrum disorder	1	1	PEX6 (2)	0.07143	1.00000	8.443e-4	1.478e-3	141
spondyloepiphyseal dysplasia with congenital joint dislocations	Vertebral column disorder	1	1	CHST3 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Basal ganglia disease	Striatal neurodegeneration	1	1	PDE8B (5)	0.07143	1.00000	8.443e-4	1.478e-3	411
Basal ganglia disease	Thiamine-responsive encephalopathy	1	1	SLC19A3 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Platelet disorder	thrombocytopenia 2	1	1	ANKRD26 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Congenital abnormalities	townes-brocks syndrome 1	1	1	SALL1 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Platelet disorder	TPM4-related platelet disorder	1	1	TPM4 (2)	0.07143	1.00000	8.443e-4	1.478e-3	67
Intellectual developmental disorder with retinitis pigmentosa	Intracranial hemorrhage	1	1	SCAPER (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Byzanthine arch palate	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	1	1	POGZ (2)	0.07143	1.00000	8.443e-4	1.478e-3	
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Malunion fracture	1	1	TRAPPC9 (2)	0.07143	1.00000	8.443e-4	1.478e-3	394
Intestinal aganglionosis	Waardenburg syndrome	1	1	EDNRB (7)	0.07143	1.00000	8.443e-4	1.478e-3	
lamb-shaffer syndrome	Vertebral column disorder	1	1	SOX5 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Costello syndrome	legius syndrome	1	1	SPRED1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Lethal congenital contracture syndrome	Lethal neonatal rigidity and multifocal seizure syndrome	1	1	BRAT1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
leukocyte adhesion deficiency 3	Platelet disorder	1	1	FERMT3 (3)	0.07143	1.00000	8.443e-4	1.478e-3	
Lymphatic malformation	Yellow nail syndrome	1	1	CELSR1 (5)	0.07143	1.00000	8.443e-4	1.478e-3	
Lymphatic malformation	lymphatic malformation 1	1	1	FLT4 (4)	0.07143	1.00000	8.443e-4	1.478e-3	
Giant cell glioblastoma	LZTR1-related schwannomatosis	1	1	LZTR1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Hyperhomocysteinemia	Malabsorption syndrome	1	1	SLC46A1 (2)	0.07143	1.00000	8.443e-4	1.478e-3	
Atypical femoral fracture	Thoracic aortic aneurysm	2	0	CNTN4 (1), SMAD6 (1)	0.03704	0.11111	8.390e-4	1.478e-3	64
Aortic dissection	Atypical femoral fracture	2	2	IL18R1 (2), SLC9A4 (2)	0.03704	0.11111	8.390e-4	1.478e-3	64
Congenital disorder of glycosylation	Congenital myasthenic syndrome	3	3	ALG2 (7), ALG14 (6), DPAGT1 (8)	0.02381	0.10345	8.343e-4	1.478e-3	5
Hypertriglyceridemia	Williams syndrome	2	2	BAZ1B (4), TBL2 (3)	0.03922	0.08333	8.586e-4	1.503e-3	
Developmental regression	Vesicoureteral reflux	2	1	NDUFAF6 (2), EBF3 (1)	0.03636	0.11111	8.850e-4	1.549e-3	
Pendred syndrome	Usher syndrome type 1	1	1	MYO7A (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Gingival diseases	Ventricular tachycardia	1	1	ABCA5 (4)	0.11111	0.50000	9.090e-4	1.557e-3	
Congenital deformity of clavicle	X-linked centronuclear myopathy	1	0	DNM2 (1)	0.11111	0.50000	9.090e-4	1.557e-3	61
Congenital deformity of elbow	X-linked centronuclear myopathy	1	0	DNM2 (1)	0.11111	0.50000	9.090e-4	1.557e-3	61
Familial temporal lobe epilepsy	lissencephaly with cerebellar hypoplasia	1	1	RELN (5)	0.11111	0.50000	9.090e-4	1.557e-3	209
Central nervous system non-hodgkin lymphoma	Neutral lipid storage disease with ichthyosis	1	1	ANO10 (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Intellectual developmental disorder hypotonic x-linked	non-syndromic X-linked intellectual disability	1	1	HUWE1 (2)	0.11111	0.50000	9.090e-4	1.557e-3	117
Frontonasal dysplasia	Parietal foramina	1	1	ALX4 (6)	0.11111	0.50000	9.090e-4	1.557e-3	
Cardiac rhythm disease	Paroxysmal tachycardia	1	1	SCN5A (2)	0.11111	0.50000	9.090e-4	1.557e-3	140
Mayer-rokitansky-kuster-hauser syndrome	Peho syndrome	1	1	ZNHIT3 (6)	0.11111	0.50000	9.090e-4	1.557e-3	
Hereditary angioedema	Periodontal ehlers-danlos syndrome	1	1	C1S (3)	0.11111	0.50000	9.090e-4	1.557e-3	
Arthralgia	Porokeratosis	1	1	MVK (6)	0.11111	0.50000	9.090e-4	1.557e-3	
Hepatic veno occlusive disease	Porphyruria	1	0	HFE (1)	0.11111	0.50000	9.090e-4	1.557e-3	251
Dermatofibrosarcoma protuberans	Prostatic hyperplasia	1	1	PDGFB (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Deafness, sensorineural, autosomal-mitochondrial type	Renal hypertension	1	0	ND1 (1)	0.11111	0.50000	9.090e-4	1.557e-3	
Congenital omphalocele	Sacral defect	1	1	PCSK5 (2)	0.11111	0.50000	9.090e-4	1.557e-3	109
autosomal dominant polycystic kidney disease	Saldino-mainzer syndrome	1	1	IFT140 (3)	0.11111	0.50000	9.090e-4	1.557e-3	
17q12 microdeletion syndrome	Mayer-rokitansky-kuster-hauser syndrome	1	1	HNF1B (2)	0.11111	0.50000	9.090e-4	1.557e-3	145
Diabetes mellitus ketosis prone	Neonatal diabetes mellitus with congenital hypothyroidism	1	1	IL2RA (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Gallbladder disease	Xanthomatosis	1	1	ABCG5 (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Dermatofibrosarcoma protuberans	Gingival diseases	1	1	PDGFB (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Diabetes mellitus ketosis prone	Hepatic adenoma	1	1	HNF1A (4)	0.11111	0.50000	9.090e-4	1.557e-3	
Pendred syndrome	Seizures, tonic-clonic, photosensitive	1	1	KCNJ10 (6)	0.11111	0.50000	9.090e-4	1.557e-3	
Hypercapnia	Renal hypertension	1	1	NPPA (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Early onset alzheimers disease with behavioral disturbance	Hereditary hemorrhagic telangiectasia	1	0	PSEN1 (1)	0.11111	0.50000	9.090e-4	1.557e-3	
Early onset alzheimers disease with behavioral disturbance	Klippel-feil syndrome	1	0	LRRK2 (1)	0.11111	0.50000	9.090e-4	1.557e-3	
Congenital venous anomaly	ehlers-danlos syndrome, classic type	1	1	COL5A1 (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Embryonal carcinoma	Gingival diseases	1	1	TNFRSF8 (2)	0.11111	0.50000	9.090e-4	1.557e-3	334
Acroosteolysis	Fahr's disease	1	1	PDGFRB (3)	0.11111	0.50000	9.090e-4	1.557e-3	
Familial ventricular tachycardia	Gingival diseases	1	1	ABCA5 (4)	0.11111	0.50000	9.090e-4	1.557e-3	
Cerebral atrophy	Deoxyguanosine kinase deficiency	1	1	DGUOK (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Cobalamin c disease	Donnai-barrow syndrome	1	0	LMBRD1 (1)	0.11111	0.50000	9.090e-4	1.557e-3	
15q13.3 microdeletion syndrome	Congenital omphalocele	1	1	CHRNA7 (5)	0.11111	0.50000	9.090e-4	1.557e-3	109
Acrodysostosis	Carney complex	1	1	PRKAR1A (8)	0.11111	0.50000	9.090e-4	1.557e-3	
Anaptoglobinemia	Sensory peripheral neuropathy	1	1	ATP7B (2)	0.11111	0.50000	9.090e-4	1.557e-3	
congenital heart disease with heterotaxy syndrome	Dextrocardia	1	1	ZIC3 (3)	0.11111	0.50000	9.090e-4	1.557e-3	54
Bonnevie-ullrich syndrome	Congenital isolated growth hormone deficiency	1	0	GH1 (1)	0.11111	0.50000	9.090e-4	1.557e-3	
Conjunctivitis	Skin hair eye pigmentation variation	1	1	HERC2 (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Continuous spike and wave during slow wave sleep syndrome	Familial temporal lobe epilepsy	1	0	GRIN2A (1)	0.11111	0.50000	9.090e-4	1.557e-3	
Cortical occipital malformations	Focal cortical dysplasia	1	0	TBR1 (1)	0.11111	0.50000	9.090e-4	1.557e-3	
Congenital omphalocele	Currarino syndrome	1	1	PCSK5 (2)	0.11111	0.50000	9.090e-4	1.557e-3	109
Congenital septal defect of heart	Currarino syndrome	1	1	PCSK5 (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Cebalid syndrome	Focal cortical dysplasia	1	1	MTOR (3)	0.11111	0.50000	9.090e-4	1.557e-3	
Cebalid syndrome	Hemimegalencephaly	1	1	MTOR (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Childhood-onset spinal muscular atrophy	Distal muscular dystrophy	1	1	BICD2 (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Bilateral generalized polymicrogyria	Hemimegalencephaly	1	1	GRIN1 (2)	0.11111	0.50000	9.090e-4	1.557e-3	
Binge eating disorder	Isolated systolic hypertension	1	1	APOB (2)	0.11111	0.50000	9.090e-4	1.557e-3	201
Absence epilepsy	Birk-barel syndrome	1	1	KCNK9 (5)	0.11111	0.50000	9.090e-4	1.557e-3	
Bloom syndrome	Hyper-igm immunodeficiency syndrome	1	1	UNG (5)	0.11111	0.50000	9.090e-4	1.557e-3	
Bmpr1a-related juvenile polyposis	Hereditary hemorrhagic telangiectasia	1	1	SMAD4 (3)	0.11111	0.50000	9.090e-4	1.557e-3	
Benign concentric annular macular dystrophy	Distal myopathy	1	1	IMPG1 (4)	0.06667	1.00000	9.092e-4	1.557e-3	310
Benign fasciculation-cramp syndrome	Bronchial hyperreactivity	1	1	TRPA1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive limb-girdle muscular dystrophy	Beta-sarcoglycanopathy	1	1	SGCB (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior segment mesenchymal dysgenesis	Bilateral congenital mydriasis	1	0	ITPR1 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Blau syndrome	Intestinal disease	1	1	NOD2 (7)	0.06667	1.00000	9.092e-4	1.557e-3	401
Bmp4-related ocular growth disorder	Cartilage disease	1	1	BMP4 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Bmp4-related ocular growth disorder	Stickler syndrome	1	1	BMP4 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Brunner syndrome	Hepatic encephalopathy	1	1	MAOA (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Burnett schwartz berberian syndrome	Developmental dysplasia of the hip	1	1	LRP1 (4)	0.06667	1.00000	9.092e-4	1.557e-3	247
Camptodactyly	Esophageal ulcer	1	1	TLN2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	Esophageal ulcer	1	1	SASH1 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Capos syndrome	Congenital epicanthus	1	1	ATP1A3 (2)	0.06667	1.00000	9.092e-4	1.557e-3	196
Bicuspid aortic valve	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	1	1	TAB2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
20p12.3 microdeletion syndrome	Hemochromatosis	1	1	BMP2 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Aceruloplasminemia	Hemochromatosis	1	1	CP (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Acral self-healing collodion baby	Lamellar ichthyosis	1	1	TGM1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	232
Acrokeratosis verruciformis	Diabetic cardiomyopathy	1	1	ATP2A2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Aica-ribosiduria	Blindness	1	1	ATIC (3)	0.06667	1.00000	9.092e-4	1.557e-3	158
Aica-ribosiduria	Spondylometaphyseal dysplasia	1	1	ATIC (2)	0.06667	1.00000	9.092e-4	1.557e-3	
AIPL1-related retinopathy	Blindness	1	1	AIPL1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	158
Alstrom syndrome	Stickler syndrome	1	1	ALMS1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	Distal myopathy	1	1	TIA1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Angel-shaped phalangoepiphyseal dysplasia	Developmental dysplasia of the hip	1	1	GDF5 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior cruciate ligament injury	Hyperemia	1	1	CNR2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
anterior segment dysgenesis 7	Anterior segment mesenchymal dysgenesis	1	1	PXDN (3)	0.06667	1.00000	9.092e-4	1.557e-3	
anterior segment dysgenesis 8	Anterior segment mesenchymal dysgenesis	1	1	CPAMD8 (3)	0.06667	1.00000	9.092e-4	1.557e-3	82
aortic valve disease 3	Bicuspid aortic valve	1	1	ROBO4 (3)	0.06667	1.00000	9.092e-4	1.557e-3	26
Coasy protein-associated neurodegeneration	Neurodegeneration with brain iron accumulation	1	1	COASY (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Coenzyme a synthase protein associated neurodegeneration	Neurodegeneration with brain iron accumulation	1	1	COASY (4)	0.06667	1.00000	9.092e-4	1.557e-3	
combined immunodeficiency due to RELA haploinsufficiency	Endocrine system disease	1	1	RELA (3)	0.06667	1.00000	9.092e-4	1.557e-3	80
Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia	1	1	ACP5 (2)	0.06667	1.00000	9.092e-4	1.557e-3	23
Anterior segment mesenchymal dysgenesis	Congenital aphakia	1	0	FOXE3 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
congenital bile acid synthesis defect 2	Hemochromatosis	1	1	AKR1D1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital brain dysgenesis due to glutamine synthetase deficiency	Hepatic encephalopathy	1	1	GLUL (6)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior segment mesenchymal dysgenesis	Congenital cataract anterior segment dysgenesis syndrome	1	1	PITX3 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Bicuspid aortic valve	Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige	1	1	DSG1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior segment mesenchymal dysgenesis	CYP1B1-related glaucoma with or without anterior segment dysgenesis	1	1	CYP1B1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive limb-girdle muscular dystrophy	Delta-sarcoglycan-related limb-girdle muscular dystrophy r6	1	1	SGCD (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Developmental delay with immunodeficiency syndrome	Endocrine system disease	1	1	NFE2L2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Developmental dysplasia of the hip	Tricuspid atresia	1	1	LRP1 (4)	0.06667	1.00000	9.092e-4	1.557e-3	247
Developmental dysplasia of the hip	Hip dislocation-facial dysmorphism syndrome	1	1	TRIM33 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital hydrocephalus	dilated cardiomyopathy 1L	1	1	SGCD (2)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive limb-girdle muscular dystrophy	dilated cardiomyopathy 1L	1	0	SGCD (1)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive limb-girdle muscular dystrophy	Distal anoctaminopathy	1	1	ANO5 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Distal myopathy	distal myopathy with vocal cord weakness	1	1	MATR3 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Dorfman-chanarin disease	Lamellar ichthyosis	1	1	ABHD5 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
cataract 50 with or without glaucoma	Intestinal disease	1	1	TRPM3 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Caveolinopathy	Distal myopathy	1	1	CAV3 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	Congenital epicanthus	1	1	ATP1A3 (5)	0.06667	1.00000	9.092e-4	1.557e-3	196
Blindness	Cerebelloparenchymal disorder	1	1	PMPCA (2)	0.06667	1.00000	9.092e-4	1.557e-3	158
cerebroretinal microangiopathy with calcifications and cysts 1	Metabolic bone disorder	1	1	CTC1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Cerebrotendinous xanthomatosis	Metabolic bone disorder	1	1	CYP27A1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Childhood-onset sensorineural hearing impairment	Perrault syndrome	1	1	PRORP (2)	0.06667	1.00000	9.092e-4	1.557e-3	353
Caffey disease	Cholangitis	1	1	COL1A1 (6)	0.06667	1.00000	9.092e-4	1.557e-3	93
Cholangitis	Maternal hypertension	1	1	COL1A1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	93
Cholangitis	Rhizomelia	1	1	COL1A1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	93
Cholestanol storage disease	Metabolic bone disorder	1	1	CYP27A1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Bicuspid aortic valve	Chromosome 6q24-q25 deletion syndrome	1	0	TAB2 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Testicular disease	1	1	PPP3CA (4)	0.06667	1.00000	9.092e-4	1.557e-3	102
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome	autosomal recessive limb-girdle muscular dystrophy	1	1	ANO5 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Ataxia with polyneuropathy	Bicuspid aortic valve	1	0	ATP6 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
ATP1A3-associated neurological disorder	Congenital epicanthus	1	1	ATP1A3 (2)	0.06667	1.00000	9.092e-4	1.557e-3	196
Atrial and intestinal dysrhythmia	Intestinal disease	1	1	SGO1 (6)	0.06667	1.00000	9.092e-4	1.557e-3	
Atrophoderma vermiculata	Developmental dysplasia of the hip	1	1	LRP1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	247
autoimmune lymphoproliferative syndrome type 1	Testicular disease	1	1	FASLG (3)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal dominant cerebellar ataxia	Vascular brain injury	1	1	NPTX1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	109
autosomal recessive limb-girdle muscular dystrophy	Intellectual developmental disorder movement cerebellar	1	1	TRAPPC11 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive osteopetrosis 3	Cholangitis	1	1	CA2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Axial spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia	1	1	CFAP410 (4)	0.06667	1.00000	9.092e-4	1.557e-3	23
autosomal recessive limb-girdle muscular dystrophy	bardet-biedl syndrome 11	1	0	TRIM32 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Behavior disorders	Fatigue syndrome	1	0	SLC6A4 (1)	0.06667	1.00000	9.092e-4	1.557e-3	392
Congenital folate absorption defect	Pancytopenia	1	1	SLC46A1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	428
Bicuspid aortic valve	congenital heart defects, multiple types, 2	1	1	TAB2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital hydrocephalus	SMARCC1-associated developmental dysgenesis syndrome	1	1	SMARCC1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	298
Congenital hydrocephalus	scott syndrome	1	1	ANO6 (2)	0.06667	1.00000	9.092e-4	1.557e-3	298
Congenital hydrocephalus	Delta-sarcoglycan-related limb-girdle muscular dystrophy r6	1	1	SGCD (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital hypoplasia of pancreas	Permanent neonatal diabetes mellitus	1	1	PDX1 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Rosacea	1	1	ELOVL4 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital malabsorptive diarrhea	Permanent neonatal diabetes mellitus	1	1	NEUROG3 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency	Permanent neonatal diabetes mellitus	1	1	NEUROG3 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital microvillous atrophy	Intestinal disease	1	1	MYO5B (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Angle closure glaucoma	congenital myasthenic syndrome 6	1	1	CHAT (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior segment mesenchymal dysgenesis	Congenital primary aphakia	1	1	FOXE3 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior segment mesenchymal dysgenesis	Congenital sclerocornea	1	0	GJA8 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Connective and soft tissue disorder	Nephrosclerosis	1	1	COL3A1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	350
Corpus callosum agenesis with facial anomalies and robin sequence	Partington syndrome	1	0	DDX3X (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Bronchial hyperreactivity	Cramp-fasciculation syndrome	1	1	TRPA1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Creatine phosphokinase elevation	Distal myopathy	1	1	CAV3 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Dyschromatosis	Esophageal ulcer	1	1	SASH1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Distal myopathy	Dysferlinopathy	1	1	DYSF (3)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive limb-girdle muscular dystrophy	Dysferlinopathy	1	1	DYSF (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Early-onset combined immunodeficiency with low ig due to dominant-negative ikaros mutation	Pancytopenia	1	1	IKZF1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Early-onset combined immunodeficiency with low ig due to dominant-negative ikaros mutation	Rosacea	1	1	IKZF1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
ehlers-danlos syndrome, vascular type	Nephrosclerosis	1	1	COL3A1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	350
ELOVL4-related maculopathy	Rosacea	1	1	ELOVL4 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Endocrine system disease	immunodeficiency, developmental delay, and hypohomocysteinemia	1	1	NFE2L2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Endocrine system disease	Mucocutaneous ulceration	1	1	RELA (4)	0.06667	1.00000	9.092e-4	1.557e-3	80
Erythrokeratodermia with ataxia	Rosacea	1	1	ELOVL4 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Esophageal stenosis	Esophageal ulcer	1	1	SOD2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Fanconi anemia complementation group C	Pancytopenia	1	1	FANCC (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Collagenous colitis	Fatigue syndrome	1	1	HLA-DQA1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Fatigue syndrome	Right hypoplastic heart syndrome	1	1	TBX20 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital epicanthus	fibrodysplasia ossificans progressiva	1	1	ACVR1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	196
Bicuspid aortic valve	Focal palmoplantar keratoderma with joint keratoses	1	1	DSG1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Folic acid deficiency	Pancytopenia	1	1	DHFR (2)	0.06667	1.00000	9.092e-4	1.557e-3	
MECOM-associated syndrome	Pancytopenia	1	1	MECOM (3)	0.06667	1.00000	9.092e-4	1.557e-3	428
Congenital hydrocephalus	medium chain acyl-coa dehydrogenase deficiency	1	1	ACADM (2)	0.06667	1.00000	9.092e-4	1.557e-3	
16q24.3 microdeletion syndrome	Metabolic bone disorder	1	1	ANKRD11 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
kbg syndrome	Metabolic bone disorder	1	1	ANKRD11 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Hypophosphatasia	Metabolic bone disorder	1	1	ALPL (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Hemochromatosis	microcytic anemia with liver iron overload	1	1	SLC11A2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Anophthalmia	microphthalmia, syndromic 12	1	1	RARB (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Miles-carpenter syndrome	Partington syndrome	1	0	ZC4H2 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Diabetic cardiomyopathy	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	1	1	SLC25A4 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Mowat-wilson syndrome	Papillary thyroid cancer	1	1	ZEB2 (7)	0.06667	1.00000	9.092e-4	1.557e-3	
Endocrine system disease	multiple congenital anomalies-hypotonia-seizures syndrome 1	1	1	PIGN (2)	0.06667	1.00000	9.092e-4	1.557e-3	80
multisystemic smooth muscle dysfunction syndrome	Nephrosclerosis	1	1	ACTA2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Angle closure glaucoma	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome	1	1	GLIS3 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Neurodegeneration with brain iron accumulation	neurodegeneration with brain iron accumulation 4	1	1	C19orf12 (6)	0.06667	1.00000	9.092e-4	1.557e-3	107
Hemochromatosis	neurodegeneration with brain iron accumulation 9	1	1	FTH1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Neurodegeneration with brain iron accumulation	neuroferritinopathy	1	1	FTL (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Bicuspid aortic valve	NOTCH1-related AOS spectrum disorder	1	1	NOTCH1 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
NYX-related retinopathy	Oguchi disease	1	1	NYX (2)	0.06667	1.00000	9.092e-4	1.557e-3	160
Anophthalmia	Ocular dysgenesis	1	1	ELP4 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Anophthalmia	ocular dysgenesis caused by defects in PAX6 regulation	1	1	ELP4 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Aland island eye disease	Oguchi disease	1	0	CACNA1F (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Anophthalmia	Orbital disease	1	1	RARB (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Avascular necrosis of bone	Osteolysis, hereditary multicentric	1	1	MMP2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Metabolic bone disorder	Osteolysis, hereditary multicentric	1	1	MMP2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Osteolysis, hereditary multicentric	Osteonecrosis of medial femoral condyle	1	1	MMP2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
pancreatic agenesis 1	Permanent neonatal diabetes mellitus	1	1	PDX1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Pancreatic beta-cell agenesis with neonatal diabetes mellitus	Permanent neonatal diabetes mellitus	1	1	PTF1A (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Pancytopenia	pancytopenia due to IKZF1 mutations	1	1	IKZF1 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
pancytopenia due to IKZF1 mutations	Rosacea	1	1	IKZF1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Neurodegeneration with brain iron accumulation	Pantothenate kinase-associated neurodegeneration	1	1	PANK2 (5)	0.06667	1.00000	9.092e-4	1.557e-3	107
Hairy cell leukemia	Papillary thyroid cancer	1	1	BRAF (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital digestive system anomaly	Papillary thyroid cancer	1	1	RET (2)	0.06667	1.00000	9.092e-4	1.557e-3	161
Medullary thyroid cancer	Papillary thyroid cancer	1	0	RET (1)	0.06667	1.00000	9.092e-4	1.557e-3	161
multiple endocrine neoplasia type 2B	Papillary thyroid cancer	1	1	RET (2)	0.06667	1.00000	9.092e-4	1.557e-3	161
Bicuspid aortic valve	Periodic paralysis with later-onset distal motor neuropathy	1	0	ATP8 (1)	0.06667	1.00000	9.092e-4	1.557e-3	26
Cleft palate and bilateral cleft lip	Periodic paralysis with later-onset distal motor neuropathy	1	0	ATP8 (1)	0.06667	1.00000	9.092e-4	1.557e-3	26
Spondylometaphyseal dysplasia	TRIP11-related skeletal dysplasia	1	1	TRIP11 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Oguchi disease	TRPM1-related retinopathy	1	1	TRPM1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	160
Nephrosclerosis	Vascular ehlers-danlos syndrome	1	1	COL3A1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	350
Anophthalmia	Waardenburg anophthalmia syndrome	1	1	SMOC1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Stickler syndrome	Wagner disease	1	1	VCAN (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Stickler syndrome	Wagner syndrome	1	1	VCAN (6)	0.06667	1.00000	9.092e-4	1.557e-3	
Partington syndrome	Wieacker syndrome	1	1	ZC4H2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Partington syndrome	Wieacker-wolff syndrome	1	1	ZC4H2 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Testicular disease	Wilson disease	1	1	ATP7B (7)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital hypothyroidism	X-linked central congenital hypothyroidism with late-onset testicular enlargement	1	1	IGSF1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	102
Testicular disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement	1	1	IGSF1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	102
Hemochromatosis	X-linked erythropoietic protoporphyria	1	1	ALAS2 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Partington syndrome	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	1	1	USP9X (3)	0.06667	1.00000	9.092e-4	1.557e-3	329
Lymphoproliferative syndrome	X-linked lymphoproliferative disease due to SH2D1A deficiency	1	1	SH2D1A (4)	0.06667	1.00000	9.092e-4	1.557e-3	405
Lymphoproliferative syndrome	X-linked lymphoproliferative disease due to XIAP deficiency	1	1	XIAP (4)	0.06667	1.00000	9.092e-4	1.557e-3	405
Partington syndrome	X-linked myopathy with excessive autophagy	1	1	RPL10 (3)	0.06667	1.00000	9.092e-4	1.557e-3	329
Pancytopenia	xanthinuria type II	1	1	MOCOS (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Intestinal disease	Yao syndrome	1	1	NOD2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	401
Cleft palate and bilateral cleft lip	Zunich neuroectodermal syndrome	1	1	PIGL (2)	0.06667	1.00000	9.092e-4	1.557e-3	
intellectual disability, X-linked 107	Partington syndrome	1	1	STEEP1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	329
Intestinal disease	normophosphatemic familial tumoral calcinosis	1	1	SAMD9 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Intestinal disease	SAMD9-related spectrum and myeloid neoplasm risk	1	1	SAMD9 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital hypothyroidism	Iodide peroxidase deficiency	1	1	TPO (3)	0.06667	1.00000	9.092e-4	1.557e-3	102
Hemochromatosis	iron overload, susceptibility to	1	1	BMP6 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Angle closure glaucoma	isolated microphthalmia 6	1	1	PRSS56 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Bicuspid aortic valve	keutel syndrome	1	1	MGP (3)	0.06667	1.00000	9.092e-4	1.557e-3	
kufor-rakeb syndrome	Neurodegeneration with brain iron accumulation	1	1	ATP13A2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	107
Blindness	Lactic acidosis	1	0	PMPCA (1)	0.06667	1.00000	9.092e-4	1.557e-3	158
Blindness	LCA5-related retinopathy	1	1	LCA5 (2)	0.06667	1.00000	9.092e-4	1.557e-3	158
FAS-related autoimmune lymphoproliferative immune disorder	Lymphoproliferative syndrome	1	1	FAS (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Hyper-ige syndrome	Lymphoproliferative syndrome	1	1	STAT3 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Lymphoproliferative syndrome	lymphoproliferative syndrome 1	1	1	ITK (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Lymphoproliferative syndrome	lymphoproliferative syndrome 2	1	1	CD27 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital hypothyroidism	macrothrombocytopenia, isolated, 1, autosomal dominant	1	1	TUBB1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Malabsorption syndrome	Pancytopenia	1	1	SLC46A1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	428
Congenital pectus carinatum	Perrault syndrome	1	0	FBN1 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Coronary artery dissection	Perrault syndrome	1	0	FBN1 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Perrault syndrome	perrault syndrome 3	1	1	CLPP (7)	0.06667	1.00000	9.092e-4	1.557e-3	
Perrault syndrome	perrault syndrome 2	1	1	HARS2 (6)	0.06667	1.00000	9.092e-4	1.557e-3	353
Congenital epicanthus	pitt-hopkins syndrome	1	1	TCF4 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Neurodegeneration with brain iron accumulation	PLA2G6-associated neurodegeneration	1	1	PLA2G6 (6)	0.06667	1.00000	9.092e-4	1.557e-3	
Bronchial hyperreactivity	platelet-type bleeding disorder 12	1	1	PTGS1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Endocrine system disease	Prader-willi-like syndrome	1	1	CPE (3)	0.06667	1.00000	9.092e-4	1.557e-3	80
Cholangitis	progressive familial intrahepatic cholestasis type 3	1	1	ABCB4 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Anophthalmia	progressive retinal dystrophy due to retinol transport defect	1	1	RBP4 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior segment mesenchymal dysgenesis	progressive retinal dystrophy due to retinol transport defect	1	1	RBP4 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Nephrosclerosis	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	1	1	ALPK1 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Oguchi disease	retinitis pigmentosa 47	1	1	SAG (7)	0.06667	1.00000	9.092e-4	1.557e-3	160
Blindness	Retinitis pigmentosa with choroidal involvement	1	1	RPE65 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Blindness	RHO-related retinopathy	1	1	RHO (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Hemochromatosis	Right ventricle hypoplasia	1	1	BMP2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Blindness	RPE65-related dominant retinopathy	1	1	RPE65 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Blindness	RPE65-related recessive retinopathy	1	1	RPE65 (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Hydrops with lactic acidosis and sideroblastic anemia	Perrault syndrome	1	1	LARS2 (7)	0.06667	1.00000	9.092e-4	1.557e-3	353
Hemochromatosis	Hypochromic anemia	1	1	SLC11A2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Ichthyosis vulgaris	Sebaceous gland disease	1	1	FLG (3)	0.06667	1.00000	9.092e-4	1.557e-3	263
Distal myopathy	IMPG1-related dominant retinopathy	1	1	IMPG1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	310
Distal myopathy	IMPG1-related recessive retinopathy	1	1	IMPG1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	310
Distal myopathy	IMPG2-related recessive retinopathy	1	1	IMPG2 (2)	0.06667	1.00000	9.092e-4	1.557e-3	310
Distal myopathy	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	1	1	VCP (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Intellectual developmental disorder microcephaly cerebellar	Partington syndrome	1	1	CASK (2)	0.06667	1.00000	9.092e-4	1.557e-3	329
generalized epilepsy-paroxysmal dyskinesia syndrome	Metabolic bone disorder	1	1	KCNMA1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Genetic hyperferritinemia without iron overload	Neurodegeneration with brain iron accumulation	1	1	FTL (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Congenital hypothyroidism	Genetic transient congenital hypothyroidism	1	1	DUOX2 (3)	0.06667	1.00000	9.092e-4	1.557e-3	102
glomerulopathy with fibronectin deposits 2	Spondylometaphyseal dysplasia	1	1	FN1 (6)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive limb-girdle muscular dystrophy	gnathodiaphyseal dysplasia	1	0	ANO5 (1)	0.06667	1.00000	9.092e-4	1.557e-3	
Granulomatous inflammatory arthritis-dermatitis-uveitis, familial	Intestinal disease	1	0	NOD2 (1)	0.06667	1.00000	9.092e-4	1.557e-3	401
GRM6-related retinopathy	Oguchi disease	1	1	GRM6 (2)	0.06667	1.00000	9.092e-4	1.557e-3	160
Hemochromatosis	hemochromatosis type 2A	1	1	HJV (6)	0.06667	1.00000	9.092e-4	1.557e-3	148
Hemochromatosis	hemochromatosis type 2B	1	1	HAMP (6)	0.06667	1.00000	9.092e-4	1.557e-3	148
Hemochromatosis	hemochromatosis type 3	1	1	TFR2 (6)	0.06667	1.00000	9.092e-4	1.557e-3	148
Hemochromatosis	hemochromatosis type 5	1	1	FTH1 (5)	0.06667	1.00000	9.092e-4	1.557e-3	
Hemochromatosis	Hemosiderosis	1	1	CP (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Hepatic lipase deficiency	Hyperemia	1	1	LIPC (3)	0.06667	1.00000	9.092e-4	1.557e-3	
hereditary hyperferritinemia with congenital cataracts	Neurodegeneration with brain iron accumulation	1	1	FTL (3)	0.06667	1.00000	9.092e-4	1.557e-3	
hereditary spastic paraplegia 35	Neurodegeneration with brain iron accumulation	1	1	FA2H (3)	0.06667	1.00000	9.092e-4	1.557e-3	107
hereditary thrombocytopenia and hematologic cancer predisposition syndrome	Pancytopenia	1	1	RUNX1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
autosomal recessive limb-girdle muscular dystrophy	Sarcotubular myopathy	1	1	TRIM32 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Lymphoproliferative syndrome	severe combined immunodeficiency due to CD70 deficiency	1	1	CD70 (3)	0.06667	1.00000	9.092e-4	1.557e-3	405
Hepatic encephalopathy	severe combined immunodeficiency due to DNA-PKcs deficiency	1	1	PRKDC (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Hyperemia	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	1	1	ADA (3)	0.06667	1.00000	9.092e-4	1.557e-3	
Bronchial hyperreactivity	Sleep deprivation	1	1	PTGS1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Bicuspid aortic valve	SMAD6-related disease	1	1	SMAD6 (4)	0.06667	1.00000	9.092e-4	1.557e-3	
Anterior segment mesenchymal dysgenesis	spinocerebellar ataxia type 29	1	1	ITPR1 (2)	0.06667	1.00000	9.092e-4	1.557e-3	
Spondylometaphyseal dysplasia	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	1	1	PCYT1A (7)	0.06667	1.00000	9.092e-4	1.557e-3	
Spondylometaphyseal dysplasia	spondylometaphyseal dysplasia, 'corner fracture' type	1	1	FN1 (6)	0.06667	1.00000	9.092e-4	1.557e-3	
Stickler syndrome	Stickler syndrome, type 4	1	1	COL9A1 (8)	0.06667	1.00000	9.092e-4	1.557e-3	308
Endocrine system disease	syndromic multisystem autoimmune disease due to ITCH deficiency	1	1	ITCH (2)	0.06667	1.00000	9.092e-4	1.557e-3	80
Hyperopia	Seborrheic dermatitis	3	1	PRICKLE2 (1), MYRF (2), SGPL1 (1)	0.02632	0.08108	8.907e-4	1.557e-3	
Hemorrhoid	Ileocolitis	2	0	PHLDB2 (1), PLCXD2 (1)	0.02083	0.25000	9.043e-4	1.557e-3	
Bladder exstrophy and epispadias complex	Cystic kidney disease	2	0	PKD1 (1), LRRC37A2 (1)	0.03846	0.07692	9.377e-4	1.605e-3	
Benign adult familial myoclonic epilepsy	Cyanosis	1	1	ADRA2B (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Congenital respiratory system anomaly	Cyanosis	1	1	TGFB2 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Corticobasal syndrome	Dowling degos disease	1	1	ADAM10 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Aortic rupture	Coumarin resistance	1	1	VKORC1 (3)	0.12500	0.33333	9.739e-4	1.644e-3	
Aortic rupture	Combined deficiency of vitamin k-dependent clotting factors	1	1	VKORC1 (5)	0.12500	0.33333	9.739e-4	1.644e-3	
14q11.2 microduplication syndrome	Congenital ptosis	1	1	CHD8 (2)	0.12500	0.33333	9.739e-4	1.644e-3	280
46, xy disorder of sex development	46,xx sex reversal	1	1	NR5A1 (3)	0.12500	0.33333	9.739e-4	1.644e-3	183
Acne inversa	Dowling degos disease	1	1	PSENEN (4)	0.12500	0.33333	9.739e-4	1.644e-3	
Ataxia with oculomotor apraxia	Tay-sachs disease	1	0	SETX (1)	0.12500	0.33333	9.739e-4	1.644e-3	
Desbuquois dysplasia	Pseudoxanthoma elasticum	1	1	XYLT1 (4)	0.12500	0.33333	9.739e-4	1.644e-3	
Dias-logan syndrome	Hemoglobin e disease	1	1	BCL11A (4)	0.12500	0.33333	9.739e-4	1.644e-3	
Childhood-onset epilepsy syndrome	Frontal lobe epilepsy	1	1	KCNT1 (3)	0.12500	0.33333	9.739e-4	1.644e-3	423
Chromosome 3p25 monosomy	Disruptive impulse-control and conduct disorder	1	1	OXTR (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Blepharophimosis-intellectual disability syndrome	Intellectual developmental disorder speech dysmorphic	1	1	SMARCA2 (5)	0.12500	0.33333	9.739e-4	1.644e-3	
lissencephaly spectrum disorders	Sotos syndrome	1	1	APC2 (3)	0.12500	0.33333	9.739e-4	1.644e-3	
Littles disease	Selective immunoglobulin a deficiency	1	1	IFIH1 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Littles disease	Spastic paraplegia, x-linked	1	0	SPAST (1)	0.12500	0.33333	9.739e-4	1.644e-3	
Male breast carcinoma	Myelogenous leukemia	1	0	CCDC170 (1)	0.12500	0.33333	9.739e-4	1.644e-3	
Biliary tract neoplasms	Male breast carcinoma	1	1	PRKACB (2)	0.12500	0.33333	9.739e-4	1.644e-3	38
Bilateral microphthalmos	Non-syndromic cataract	1	1	EPHA2 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Constipation	Orthostatic hypotension	1	1	OPRM1 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Coronal craniosynostosis	Extraskeletal myxoid chondrosarcoma	1	1	TCF12 (2)	0.12500	0.33333	9.739e-4	1.644e-3	250
Bronchus cancer	familial sleep-related hypermotor epilepsy	1	1	CHRNA4 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
familial sleep-related hypermotor epilepsy	Respiratory system cancer	1	1	CHRNA4 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Autoimmune hemolytic anemia	Mycosis fungoides	1	1	CTLA4 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Clonal cytopenia of undetermined significance	Upper extremity fracture	1	1	ARID1A (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Intracranial thrombosis	Three-vessel coronary artery disease	1	1	ABO (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Aortic rupture	Torg-winchester syndrome	1	1	MMP2 (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Growth hormone-secreting pituitary adenoma	Primary bilateral macronodular adrenal hyperplasia	1	1	GNAS (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Disruptive impulse-control and conduct disorder	Rippling muscle disease	1	0	OXTR (1)	0.12500	0.33333	9.739e-4	1.644e-3	
Hemiplegia	Ovarian diseases	1	1	CGA (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Chilblain lupus erythematosus	hereditary breast carcinoma	1	1	ATRIP (2)	0.12500	0.33333	9.739e-4	1.644e-3	
Gastro-entero-pancreatic neuroendocrine tumor	Panniculitis	1	1	SERPINA1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	236
Goldmann-favre syndrome	inherited retinal dystrophy	1	1	NR2E3 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Dyskinesia, drug-induced	GTP cyclohydrolase I deficiency	1	1	GCH1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Hengel maroofian schols syndrome	Urinary system disease	1	1	BCAS3 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Coloboma	microphthalmia, isolated, with coloboma 7	1	1	ABCB6 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Mitochondrial myopathy	1	1	SLC25A4 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Cystitis	Mucocutaneous ulceration	1	1	RELA (4)	0.06250	1.00000	9.742e-4	1.644e-3	80
inherited retinal dystrophy	mucopolysaccharidosis type 3C	1	0	HGSNAT (1)	0.06250	1.00000	9.742e-4	1.644e-3	
Muscle eye brain disease	muscular dystrophy-dystroglycanopathy	1	1	LARGE1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	1	1	B3GALNT2 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Muscle eye brain disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	1	1	B4GAT1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in CRPPA	1	1	CRPPA (3)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in FKRP	1	1	FKRP (4)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in FKTN	1	1	FKTN (4)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in GMPPB	1	1	GMPPB (4)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in POMGNT1	1	1	POMGNT1 (4)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in POMGNT2	1	1	POMGNT2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in POMT1	1	1	POMT1 (4)	0.06250	1.00000	9.742e-4	1.644e-3	40
Muscle eye brain disease	myopathy caused by variation in POMT2	1	1	POMT2 (4)	0.06250	1.00000	9.742e-4	1.644e-3	40
Arrhythmogenic right ventricular dysplasia	Naxos disease	1	1	JUP (6)	0.06250	1.00000	9.742e-4	1.644e-3	
nephronophthisis 2	Urinary system disease	1	1	INVS (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Congenital pontocerebellar hypoplasia	neurodegeneration, childhood-onset, with cerebellar atrophy	1	1	AGTPBP1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Syntelencephaly	1	1	DLL1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	110
neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Septopreoptic holoprosencephaly	1	1	DLL1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	110
Muscle eye brain disease	neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan	1	1	DAG1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	40
Neurooculorenal syndrome	Renal agenesis	1	1	ROBO1 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Gastro-entero-pancreatic neuroendocrine tumor	Neutropenia, nonimmune chronic idiopathic, adult	1	1	GFI1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Hereditary breast and ovarian cancer syndrome	nijmegen breakage syndrome	1	1	NBN (2)	0.06250	1.00000	9.742e-4	1.644e-3	39
Dyskinesia, drug-induced	obsolete early infantile epileptic encephalopathy	1	1	GAD1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	118
Coloboma	Ocular dysgenesis	1	1	ELP4 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Coloboma	ocular dysgenesis caused by defects in PAX6 regulation	1	1	ELP4 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Craniofacial microsomia	Otodental dysplasia	1	1	FGF3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	278
Craniofacial microsomia	Otodental syndrome	1	1	FGF3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	278
46,xy gonadal dysgenesis	Ovarian teratoma	1	1	BMP15 (2)	0.06250	1.00000	9.742e-4	1.644e-3	149
Amenorrhea	P450 oxidoreductase deficiency	1	1	POR (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Hereditary breast and ovarian cancer syndrome	PALB2-related cancer predisposition	1	1	PALB2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Gastro-entero-pancreatic neuroendocrine tumor	pancytopenia due to IKZF1 mutations	1	1	IKZF1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Hydrops with lactic acidosis and sideroblastic anemia	Mitochondrial myopathy	1	1	LARS2 (5)	0.06250	1.00000	9.742e-4	1.644e-3	
Hyperpituitarism	MECOM-associated syndrome	1	1	MECOM (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Colchicine resistance	Hyperpituitarism	1	1	ABCB1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	120
Gastro-entero-pancreatic neuroendocrine tumor	hypoparathyroidism-deafness-renal disease syndrome	1	1	GATA3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
hypotonia, ataxia, and delayed development syndrome	Mobius syndrome	1	1	EBF3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
immunodeficiency 122	Uterine prolapse	1	1	POLD3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Gastro-entero-pancreatic neuroendocrine tumor	immunodeficiency 63 with lymphoproliferation and autoimmunity	1	1	IL2RB (2)	0.06250	1.00000	9.742e-4	1.644e-3	236
Gastro-entero-pancreatic neuroendocrine tumor	immunodeficiency 84	1	1	IKZF3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
immunodeficiency 92	Tremor	1	1	REL (2)	0.06250	1.00000	9.742e-4	1.644e-3	66
Interstitial systitis	Tremor	1	1	ADRB2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Amenorrhea	Isolated follicle-stimulating hormone deficiency	1	1	FSHB (2)	0.06250	1.00000	9.742e-4	1.644e-3	193
kufor-rakeb syndrome	Secondary parkinson disease	1	1	ATP13A2 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Macular telangiectasia	Phosphoserine phosphatase deficiency	1	1	PSPH (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Macular telangiectasia	Ocular dysgenesis	1	1	ELP4 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Dyschromatosis	Rotator cuff tear	1	1	SASH1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	378
Coloboma	dyschromatosis universalis hereditaria 3	1	1	ABCB6 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Early-onset combined immunodeficiency with low ig due to dominant-negative ikaros mutation	Gastro-entero-pancreatic neuroendocrine tumor	1	1	IKZF1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
enhanced s-cone syndrome	inherited retinal dystrophy	1	0	NR2E3 (1)	0.06250	1.00000	9.742e-4	1.644e-3	
Cor pulmonale	Factor xi deficiency	1	1	F11 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Congenital pontocerebellar hypoplasia	familial adenomatous polyposis 2	1	1	MUTYH (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Arrhythmogenic right ventricular dysplasia	familial isolated arrhythmogenic right ventricular dysplasia	1	1	DSC2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	3
familial ovarian cancer	Hereditary breast and ovarian cancer syndrome	1	1	BRIP1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
fanconi anemia complementation group j	Hereditary breast and ovarian cancer syndrome	1	1	BRIP1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
fanconi anemia complementation group n	Hereditary breast and ovarian cancer syndrome	1	1	PALB2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
fanconi anemia complementation group o	Hereditary breast and ovarian cancer syndrome	1	1	RAD51C (3)	0.06250	1.00000	9.742e-4	1.644e-3	
fanconi anemia, complementation group s	Hereditary breast and ovarian cancer syndrome	1	1	BRCA1 (5)	0.06250	1.00000	9.742e-4	1.644e-3	
Colobomatous microphthalmia	Focal dermal hypoplasia	1	1	PORCN (7)	0.06250	1.00000	9.742e-4	1.644e-3	52
PLA2G6-associated neurodegeneration	Uterine prolapse	1	1	PLA2G6 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Portal hypertension	renal tubular dysgenesis of genetic origin	1	1	REN (2)	0.06250	1.00000	9.742e-4	1.644e-3	70
familial juvenile hyperuricemic nephropathy type 2	Portal hypertension	1	1	REN (2)	0.06250	1.00000	9.742e-4	1.644e-3	70
Colobomatous microphthalmia	progressive retinal dystrophy due to retinol transport defect	1	1	RBP4 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Hereditary breast and ovarian cancer syndrome	RAD51C-related cancer predisposition	1	1	RAD51C (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Hereditary breast and ovarian cancer syndrome	RAD51D-related cancer predisposition	1	1	RAD51D (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Renal agenesis	Testicular regression syndrome	1	0	DHX37 (1)	0.06250	1.00000	9.742e-4	1.644e-3	
Renal agenesis	renal dysplasia, cystic, susceptibility to	1	1	BICC1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	161
Gouty arthritis	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	1	1	ALPK1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Arrhythmogenic right ventricular dysplasia	Rienhoff syndrome	1	1	TGFB3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Renal agenesis	Right aortic arch	1	0	BLTP1 (1)	0.06250	1.00000	9.742e-4	1.644e-3	
Mitochondrial myopathy	Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	1	1	RRM2B (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Systemic scleroderma	tumor predisposition syndrome 2	1	1	MBD4 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Dyskinesia, drug-induced	Tyrosine hydroxylase deficiency	1	1	TH (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Chuvash erythrocytosis	Urinary system disease	1	1	VHL (5)	0.06250	1.00000	9.742e-4	1.644e-3	
Urinary system disease	Urinary tract obstruction	1	0	RIOX2 (1)	0.06250	1.00000	9.742e-4	1.644e-3	117
Intracranial aneurysm	Wagner disease	1	1	VCAN (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Intracranial aneurysm	Wagner syndrome	1	1	VCAN (6)	0.06250	1.00000	9.742e-4	1.644e-3	
Secondary parkinson disease	Vesiculobullous skin disease	1	1	PRKN (3)	0.06250	1.00000	9.742e-4	1.644e-3	395
Butyrylcholinesterase deficiency	Secondary parkinson disease	1	1	BCHE (5)	0.06250	1.00000	9.742e-4	1.644e-3	
inherited retinal dystrophy	snowflake vitreoretinal degeneration	1	0	KCNJ13 (1)	0.06250	1.00000	9.742e-4	1.644e-3	
Macular telangiectasia	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	1	1	SLC1A4 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Craniofacial microsomia	T-cell immunodeficiency	1	1	FOXI3 (5)	0.06250	1.00000	9.742e-4	1.644e-3	
46,xy gonadal dysgenesis	Testicular regression syndrome	1	1	DHX37 (2)	0.06250	1.00000	9.742e-4	1.644e-3	149
Gastro-entero-pancreatic neuroendocrine tumor	Thiamine deficiency	1	1	SERPINA1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	236
Cor pulmonale	Thiamine-responsive megaloblastic anemia	1	1	SLC19A2 (7)	0.06250	1.00000	9.742e-4	1.644e-3	
Polymorphic catecholaminergic ventricular tachycardia	Timothy syndrome	1	1	CACNA1C (6)	0.06250	1.00000	9.742e-4	1.644e-3	
Myotonia	Tremor	1	1	SCN4A (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Arrhythmogenic right ventricular dysplasia	cardiomyopathy, dilated, 2l	1	1	LDB3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Catatonia	Tremor	1	1	CHRM4 (2)	0.06250	1.00000	9.742e-4	1.644e-3	66
Catifa syndrome	Cleft lip and palate	1	1	RIC1 (4)	0.06250	1.00000	9.742e-4	1.644e-3	136
Central hypothyroidism	Renal agenesis	1	0	ROBO1 (1)	0.06250	1.00000	9.742e-4	1.644e-3	
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism	Congenital pontocerebellar hypoplasia	1	1	PRDM13 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Choroidal neovascularization	Portal hypertension	1	1	VEGFA (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Chromosome 10q deletion syndrome	Mobius syndrome	1	1	EBF3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Chromosome 12p deletion syndrome	Urinary system disease	1	1	ERC1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Cleft lip and palate	Cleft lip/palate-ectodermal dysplasia syndrome	1	1	NECTIN1 (6)	0.06250	1.00000	9.742e-4	1.644e-3	
cobblestone lissencephaly without muscular or ocular involvement	Coloboma	1	1	LAMB1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Cognitive impairment with or without cerebellar ataxia	Tremor	1	1	SCN8A (5)	0.06250	1.00000	9.742e-4	1.644e-3	
Colobomatous microphthalmia	colobomatous microphthalmia-rhizomelic dysplasia syndrome	1	1	MAB21L2 (4)	0.06250	1.00000	9.742e-4	1.644e-3	52
Colorectal adenomatous polyposis	Congenital pontocerebellar hypoplasia	1	1	MUTYH (2)	0.06250	1.00000	9.742e-4	1.644e-3	
combined immunodeficiency due to RELA haploinsufficiency	Cystitis	1	1	RELA (3)	0.06250	1.00000	9.742e-4	1.644e-3	80
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency	Gastro-entero-pancreatic neuroendocrine tumor	1	1	IKZF3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Beriberi	Gastro-entero-pancreatic neuroendocrine tumor	1	1	SERPINA1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	236
Bmp4-related ocular growth disorder	Cleft lip and palate	1	1	BMP4 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
brain dopamine-serotonin vesicular transport disease	Secondary parkinson disease	1	1	SLC18A2 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
BRCA1-related cancer predisposition	Hereditary breast and ovarian cancer syndrome	1	1	BRCA1 (5)	0.06250	1.00000	9.742e-4	1.644e-3	
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	Rotator cuff tear	1	1	SASH1 (4)	0.06250	1.00000	9.742e-4	1.644e-3	378
carbamoyl phosphate synthetase I deficiency disease	Macular telangiectasia	1	1	CPS1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Congenital factor xi deficiency	Cor pulmonale	1	1	F11 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Congenital hyperammonemia	Macular telangiectasia	1	1	CPS1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Congenital pontocerebellar hypoplasia	neuropathy, hereditary motor and sensory, type 6B	1	1	SLC25A46 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Corpus callosum agenesis with facial anomalies and cerebellar ataxia	Craniofacial microsomia	1	1	FRMD4A (3)	0.06250	1.00000	9.742e-4	1.644e-3	278
cranioectodermal dysplasia 1	Systemic scleroderma	1	1	IFT122 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Craniofacial microsomia	Intestinal dysmotility syndrome	1	1	ANO1 (4)	0.06250	1.00000	9.742e-4	1.644e-3	278
Craniofacial microsomia	Deafness with labyrinthine aplasia, microtia, and microdontia	1	1	FGF3 (4)	0.06250	1.00000	9.742e-4	1.644e-3	278
Cleft lip and palate	Craniofaciocardiohepatic syndrome	1	1	AMOTL1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Cyp2d6 deficiency	Tremor	1	1	CYP2D6 (2)	0.06250	1.00000	9.742e-4	1.644e-3	66
Cystitis	systemic lupus erythematosus, susceptibility to, 1	1	1	TLR5 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Craniofacial microsomia	Deafness with congenital inner ear agenesis, microtia, and microdontia	1	1	FGF3 (4)	0.06250	1.00000	9.742e-4	1.644e-3	278
Delpire-mcneill syndrome	Uterine prolapse	1	1	SLC12A2 (5)	0.06250	1.00000	9.742e-4	1.644e-3	
Developmental delay with ataxia, hypotonia, and facial dysmorphism	Mobius syndrome	1	1	EBF3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Arrhythmogenic right ventricular dysplasia	dilated cardiomyopathy 1BB	1	1	DSG2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	3
Arrhythmogenic right ventricular dysplasia	dilated cardiomyopathy 1C	1	1	LDB3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Arrhythmogenic right ventricular dysplasia	dilated cardiomyopathy 1HH	1	1	BAG3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	3
Disabling pansclerotic morphea of childhood	Systemic scleroderma	1	1	STAT4 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Dna2-related mitochondrial dna deletion syndrome	Mitochondrial myopathy	1	1	DNA2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
duane retraction syndrome 2	Mobius syndrome	1	1	CHN1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
22q11 deletion syndrome	Syntelencephaly	1	1	FGF8 (3)	0.06250	1.00000	9.742e-4	1.644e-3	110
22q11 deletion syndrome	Septopreoptic holoprosencephaly	1	1	FGF8 (3)	0.06250	1.00000	9.742e-4	1.644e-3	110
acroosteolysis dominant type	Gastro-entero-pancreatic neuroendocrine tumor	1	1	NOTCH2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Alkuraya-kucinskas syndrome	Renal agenesis	1	1	BLTP1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Alpha-1 antitrypsin deficiency	Gastro-entero-pancreatic neuroendocrine tumor	1	1	SERPINA1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	236
17,20-lyase deficiency	Amenorrhea	1	1	CYP17A1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Amenorrhea	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Amenorrhea	familial hypobetalipoproteinemia 1	1	1	APOB (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Amenorrhea	hypercholesterolemia, autosomal dominant, type B	1	1	APOB (2)	0.06250	1.00000	9.742e-4	1.644e-3	
amyotrophic lateral sclerosis type 6	Tremor	1	1	FUS (6)	0.06250	1.00000	9.742e-4	1.644e-3	
Anorectal malformation	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	1	1	RTEL1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Anorectal malformation	Urocanase deficiency	1	1	UROC1 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Anorectal malformation	Urocanate hydratase deficiency	1	1	UROC1 (5)	0.06250	1.00000	9.742e-4	1.644e-3	
Anorectal malformation	urocanic aciduria	1	1	UROC1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Anterior cruciate ligament injury	Secondary parkinson disease	1	1	CNR2 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Amenorrhea	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	1	1	POR (2)	0.06250	1.00000	9.742e-4	1.644e-3	
ARHGAP29-related non-syndromic orofacial cleft	Cleft lip and palate	1	1	ARHGAP29 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Arrhythmogenic right ventricular dysplasia	arrhythmogenic right ventricular dysplasia 5	1	1	TMEM43 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
Autoinflammation, antibody deficiency, and immune dysregulation	Cor pulmonale	1	1	PLCG2 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	Cor pulmonale	1	1	PLCG2 (4)	0.06250	1.00000	9.742e-4	1.644e-3	
baraitser-winter syndrome 2	Coloboma	1	1	ACTG1 (3)	0.06250	1.00000	9.742e-4	1.644e-3	
Barakat syndrome	Gastro-entero-pancreatic neuroendocrine tumor	1	1	GATA3 (2)	0.06250	1.00000	9.742e-4	1.644e-3	
BARD1-related cancer predisposition	Hereditary breast and ovarian cancer syndrome	1	1	BARD1 (2)	0.06250	1.00000	9.742e-4	1.644e-3	39
Hypertensive nephropathy	Proliferative diabetic retinopathy	2	0	PRKAG2 (1), WDR72 (1)	0.03636	0.10000	9.834e-4	1.659e-3	
Proliferative diabetic retinopathy	Retinopathy of prematurity	2	1	SERPINE1 (1), HLA-B (2)	0.03636	0.10000	9.834e-4	1.659e-3	
Genetic peripheral neuropathy	Salivary gland disease	1	1	ARHGEF10 (2)	0.12500	0.25000	1.039e-3	1.720e-3	
Discordant ventriculoarterial connection	Knobloch syndrome	1	0	SLC19A1 (1)	0.12500	0.25000	1.039e-3	1.720e-3	
Caroli disease	Mainzer-saldino disease	1	0	WDR19 (1)	0.12500	0.25000	1.039e-3	1.720e-3	
Anonychia	Pachyonychia congenita	1	1	KRT17 (6)	0.12500	0.25000	1.039e-3	1.720e-3	164
Galactokinase deficiency	Galactosemia	1	1	GALK1 (5)	0.12500	0.25000	1.039e-3	1.720e-3	
Micropenis	Xanthinuria	1	0	SRD5A2 (1)	0.12500	0.25000	1.039e-3	1.720e-3	
Gastrointestinal neoplasms	Hyperemesis gravidarum	1	1	GDF15 (3)	0.12500	0.25000	1.039e-3	1.720e-3	37
Central nervous system disease	Sengers syndrome	1	1	SOD2 (2)	0.12500	0.25000	1.039e-3	1.720e-3	
Carney-stratakis syndrome	Skeletal muscle disorder	1	1	SDHA (2)	0.12500	0.25000	1.039e-3	1.720e-3	78
Epilepsy with auditory features	Focal epilepsy	1	1	DEPDC5 (3)	0.12500	0.25000	1.039e-3	1.720e-3	
Focal epilepsy	Lateral temporal lobe epilepsy	1	1	DEPDC5 (2)	0.12500	0.25000	1.039e-3	1.720e-3	
Sengers syndrome	Trichohepatoenteric syndrome	1	1	AGK (4)	0.12500	0.25000	1.039e-3	1.720e-3	276
Digenic hemochromatosis	Variegate porphyria	1	1	HFE (2)	0.12500	0.25000	1.039e-3	1.720e-3	
Coronary vasospasm	Ventricular ectopy	1	0	NOS3 (1)	0.12500	0.25000	1.039e-3	1.720e-3	326
Smith-lemli-opitz syndrome	Vertebral, cardiac, renal, and limb defects syndrome	1	1	NADSYN1 (4)	0.12500	0.25000	1.039e-3	1.720e-3	
Aprosencephaly	Homocystinuria with megaloblastic anemia	1	1	MTRR (3)	0.12500	0.25000	1.039e-3	1.720e-3	155
Aprosencephaly	Neural tube defects, folate-sensitive	1	1	MTRR (2)	0.12500	0.25000	1.039e-3	1.720e-3	155
Auriculocondylar syndrome	Overactive bladder	1	1	EDN1 (7)	0.12500	0.25000	1.039e-3	1.720e-3	
Beta-mannosidosis	Hypertyrosinemia	1	0	FAH (1)	0.12500	0.25000	1.039e-3	1.720e-3	199
Bone marrow diseases	Ureteral calculi	1	1	GSTP1 (2)	0.12500	0.25000	1.039e-3	1.720e-3	
Bowen’s disease	Bundle branch block	1	1	PPARGC1A (2)	0.12500	0.25000	1.039e-3	1.720e-3	
Bowen’s disease	Cecal neoplasms	1	0	CCND1 (1)	0.12500	0.25000	1.039e-3	1.720e-3	81
Bowen’s disease	Von hippel-lindau syndrome	1	1	CCND1 (5)	0.12500	0.25000	1.039e-3	1.720e-3	
Bronchiolitis	Central nervous system disease	1	1	IL17A (2)	0.12500	0.25000	1.039e-3	1.720e-3	163
Bronchiolitis	Extrinsic allergic alveolitis	1	0	MUC5B (1)	0.12500	0.25000	1.039e-3	1.720e-3	163
Central nervous system demyelinating disease	Cerebral cortical atrophy	1	0	DARS2 (1)	0.12500	0.25000	1.039e-3	1.720e-3	
Clear cell papillary renal cell carcinoma	Waardenburg-shah syndrome	1	1	MITF (2)	0.12500	0.25000	1.039e-3	1.720e-3	
Congenital chloride diarrhea	Congenital secretory diarrhea	1	1	SLC26A3 (5)	0.12500	0.25000	1.039e-3	1.720e-3	275
Congenital fusion of ribs	Dysphoric mood	1	0	DLL3 (1)	0.12500	0.25000	1.039e-3	1.720e-3	
Congenital lactic acidosis	Hereditary hemophagocytic lymphohistiocytosis	1	1	STXBP2 (2)	0.12500	0.25000	1.039e-3	1.720e-3	96
Congenital secretory diarrhea	Pregnancy disorder	1	1	SPINT2 (3)	0.12500	0.25000	1.039e-3	1.720e-3	
Craniofrontonasal dysplasia	Dysphoric mood	1	1	EFNB1 (7)	0.12500	0.25000	1.039e-3	1.720e-3	
Continuous spike and wave during slow wave sleep syndrome	Pyridoxine dependent epilepsy	1	0	GRIN2A (1)	0.10000	0.50000	1.039e-3	1.720e-3	389
Charcot-marie-tooth disease, x-linked	Cowchock syndrome	1	1	AIFM1 (6)	0.10000	0.50000	1.039e-3	1.720e-3	
Cataract-glaucoma syndrome	Posterior polar cataract	1	1	PITX3 (4)	0.10000	0.50000	1.039e-3	1.720e-3	
Chediak-higashi syndrome	Facial nerve disorder	1	0	SMCHD1 (1)	0.10000	0.50000	1.039e-3	1.720e-3	
B-cell chronic lymphocytic leukemia	Childhood hypophosphatasia	1	1	P2RX7 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Chorioretinal atrophy	Prader-willi syndrome	1	0	- (1)	0.10000	0.50000	1.039e-3	1.720e-3	
Becker generalized myotonia	Metachromatic leukodystrophy	1	0	CLCN1 (1)	0.10000	0.50000	1.039e-3	1.720e-3	
Body mass index	Diastolic heart failure	1	1	FTO (3)	0.10000	0.50000	1.039e-3	1.720e-3	
Breast fibrocystic disease	Visual impairment	1	0	CSMD1 (1)	0.10000	0.50000	1.039e-3	1.720e-3	152
Canavan disease	Infertility	1	1	SPATA22 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Accessory skin tag	Complex spastic paraplegia	1	1	ALDH18A1 (4)	0.10000	0.50000	1.039e-3	1.720e-3	
Congenital bilateral absence of vas deferens	Hereditary chronic pancreatitis	1	1	CFTR (6)	0.10000	0.50000	1.039e-3	1.720e-3	
Congenital cataract facial dysmorphism neuropathy syndrome	Posterior polar cataract	1	1	GJA3 (2)	0.10000	0.50000	1.039e-3	1.720e-3	51
Adult myoclonic epilepsy	Cri-du-chat syndrome	1	1	CTNND2 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Amed syndrome	Occupational dermatitis	1	1	ALDH2 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Amelocerebrohypohidrotic syndrome	Pyridoxine dependent epilepsy	1	1	SLC13A5 (3)	0.10000	0.50000	1.039e-3	1.720e-3	389
Accessory skin tag	Demyelinating hereditary motor and sensory neuropathy	1	1	FBLN5 (3)	0.10000	0.50000	1.039e-3	1.720e-3	94
Congenital hand deformities	Dermatosparaxis ehlers-danlos syndrome	1	1	ADAMTSL2 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Digestive system neoplasms	Genitourinary disease	1	0	ARHGAP24 (1)	0.10000	0.50000	1.039e-3	1.720e-3	
Discoid lupus erythematosus	Urologic neoplasms	1	1	OGG1 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Dna repair-deficiency disorders	Pyridoxine dependent epilepsy	1	1	PNKP (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Congenital nystagmus	Usher syndrome type 1	1	1	MYO7A (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Congenital sensorineural hearing loss	Usher syndrome type 2	1	1	USH2A (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Pemphigus	Vaginal neoplasms	1	1	IL2 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Frontotemporal dementia with motor neuron disease	Welander distal myopathy	1	1	SQSTM1 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Wilson-turner syndrome	X-linked syndromic intellectual disability	1	1	LAS1L (4)	0.10000	0.50000	1.039e-3	1.720e-3	
Charcot-marie-tooth disease, x-linked	X-linked progressive cerebellar ataxia	1	1	GJB1 (8)	0.10000	0.50000	1.039e-3	1.720e-3	
Penile hypospadia	Yunis-varon syndrome	1	1	FIG4 (5)	0.10000	0.50000	1.039e-3	1.720e-3	
Frontotemporal dementia with motor neuron disease	Masp2 deficiency	1	1	TARDBP (3)	0.10000	0.50000	1.039e-3	1.720e-3	
Omodysplasia	Robinow syndrome	1	1	FZD2 (5)	0.10000	0.50000	1.039e-3	1.720e-3	
Niemann-pick disease	Ophthalmoplegia	1	1	NPC1 (8)	0.10000	0.50000	1.039e-3	1.720e-3	231
Hereditary chronic pancreatitis	Pancreatic trypsinogen deficiency	1	1	PRSS1 (3)	0.10000	0.50000	1.039e-3	1.720e-3	
Peeling skin syndrome with leukonychia and acral punctate keratoses	Pemphigus	1	1	CAST (6)	0.10000	0.50000	1.039e-3	1.720e-3	1
Post-operative myocardial infarction	Urologic neoplasms	1	1	FHIT (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Acroosteolysis	Primary familial brain calcification	1	1	PDGFRB (3)	0.10000	0.50000	1.039e-3	1.720e-3	
hereditary nonpolyposis colon cancer	Interstitial nephritis	1	1	FAN1 (4)	0.10000	0.50000	1.039e-3	1.720e-3	
Hereditary chronic pancreatitis	Intestinal hypomagnesemia	1	1	TRPV6 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
hereditary nonpolyposis colon cancer	Lig4 syndrome	1	1	XRCC4 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Autoimmune pancreatitis	Liver cancer	1	1	HLA-DQB1 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Liver cancer	Tongue cancer	1	0	HLA-DQB1 (1)	0.10000	0.50000	1.039e-3	1.720e-3	
Genetic recurrent myoglobinuria	Rhabdomyolysis	1	1	OBSCN (3)	0.10000	0.50000	1.039e-3	1.720e-3	
Digestive system neoplasms	Genetic recurrent myoglobinuria	1	1	LPIN1 (2)	0.10000	0.50000	1.039e-3	1.720e-3	
Digestive system neoplasms	Growth hormone insensitivity, partial	1	1	GHSR (3)	0.10000	0.50000	1.039e-3	1.720e-3	
Autoimmune pancreatitis	Duodenitis	1	1	HLA-DQB1 (2)	0.10000	0.50000	1.039e-3	1.720e-3	1
Duodenitis	Tongue cancer	1	0	HLA-DQB1 (1)	0.10000	0.50000	1.039e-3	1.720e-3	1
hereditary nonpolyposis colon cancer	Thoracic neoplasms	1	1	SMARCA4 (2)	0.10000	0.50000	1.039e-3	1.720e-3	261
Seasonal affective disorder	Separation anxiety disorder	1	0	DRD4 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Primary aldosteronism	sinoatrial node dysfunction and deafness	1	1	CACNA1D (3)	0.05882	1.00000	1.039e-3	1.720e-3	116
Loeys-dietz syndrome	SMAD6-related disease	1	1	SMAD6 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Male infertility spermatogenesis disorder	spermatogenic failure 38	1	1	ARMC2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	11
Male infertility spermatogenesis disorder	spermatogenic failure 39	1	1	DNAH17 (2)	0.05882	1.00000	1.039e-3	1.720e-3	11
Male infertility spermatogenesis disorder	spermatogenic failure 5	1	1	AURKC (2)	0.05882	1.00000	1.039e-3	1.720e-3	11
Hemophilia a	telangiectasia, hereditary hemorrhagic, type 2	1	1	ACVRL1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Body weight	TFAP2B-related congenital heart disease spectrum disorder	1	1	TFAP2B (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Patent ductus arteriosus	TFAP2B-related congenital heart disease spectrum disorder	1	1	TFAP2B (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Hemophilia a	thrombophilia, X-linked, due to factor 9 defect	1	1	F9 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital anomaly of limb	Timothy syndrome	1	1	CACNA1C (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital anomaly of limb	townes-brocks syndrome 1	1	1	SALL1 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
townes-brocks syndrome 1	Vacterl association	1	1	SALL1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Dentinogenesis imperfecta	Tricho-dento-osseous syndrome	1	1	DLX3 (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Dental enamel hypoplasia	Intellectual developmental disorder with retinitis pigmentosa	1	1	SCAPER (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Intermittent explosive disorder	Pheochromocytoma	1	1	COMT (2)	0.05882	1.00000	1.039e-3	1.720e-3	
interstitial lung disease due to ABCA3 deficiency	Loeys-dietz syndrome	1	1	ABCA3 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
legius syndrome	Male infertility spermatogenesis disorder	1	1	SPRED1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Dental enamel hypoplasia	loeys-dietz syndrome 6	1	1	SMAD2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Loeys-dietz syndrome	loeys-dietz syndrome 6	1	1	SMAD2 (7)	0.05882	1.00000	1.039e-3	1.720e-3	50
lymphatic malformation 1	Lymphedema	1	1	FLT4 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Male infertility motility disorder	Male infertility spermatogenesis disorder	1	0	CCDC146 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Microform holoprosencephaly	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	1	1	DLL1 (3)	0.05882	1.00000	1.039e-3	1.720e-3	110
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan	Walker-warburg syndrome	1	1	DAG1 (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
norrie disease	Primary aldosteronism	1	1	NDP (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Hydrops fetalis	obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	1	1	PIEZO1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Distal arthrogryposis	Osteofibrous dysplasia	1	1	MET (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Lymphedema	Osteofibrous dysplasia	1	1	MET (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital total cataract	Palmoplantar keratoderma and congenital alopecia	1	1	LSS (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Distal arthrogryposis	papillary renal cell carcinoma	1	1	MET (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Lymphedema	papillary renal cell carcinoma	1	1	MET (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Distal arthrogryposis	Perching syndrome	1	1	KLHL7 (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Dental enamel hypoplasia	Peripheral neuropathy myopathy hoarseness hearing loss syndrome	1	1	MYH14 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Dental enamel hypoplasia	Peripheral neuropathy, myopathy, hoarseness, and hearing	1	1	MYH14 (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Distal arthrogryposis	Trismus-pseudocamptodactyly syndrome	1	1	MYH8 (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Catalepsy	Tyrosine hydroxylase deficiency	1	1	TH (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Pheochromocytoma	Tyrosine hydroxylase deficiency	1	1	TH (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital anomaly of limb	Ulnar-mammary syndrome	1	1	TBX3 (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Vacterl association	Vacterl-hydrocephalus syndrome	1	1	FANCB (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Vacterl association	Waardenburg anophthalmia syndrome	1	0	SMOC1 (1)	0.05882	1.00000	1.039e-3	1.720e-3	195
Congenital total cataract	Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	1	1	LEMD2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Rett syndrome	X-linked retinoschisis	1	1	RS1 (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Hydrops fetalis	Yellow nail syndrome	1	1	CELSR1 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Walker-warburg syndrome	Yellow nail syndrome	1	1	CELSR1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Breast neoplasms 	meier-gorlin syndrome 4	1	1	CDT1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Lymphedema	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	1	1	KIF11 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital total cataract	Microstomia	1	0	LEMD2 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital anomaly of limb	Middle lobe syndrome	1	1	SALL1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Middle lobe syndrome	Vacterl association	1	0	SALL1 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Minor epilepsy	Seasonal affective disorder	1	0	NPY (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Mitochondrial encephalocardiomyopathy	Mitochondrial encephalomyopathy	1	1	TMEM70 (2)	0.05882	1.00000	1.039e-3	1.720e-3	62
Childhood myocerebrohepatopathy spectrum	Mitochondrial encephalomyopathy	1	0	POLG (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Loeys-dietz syndrome	multiple self-healing squamous epithelioma	1	1	TGFBR1 (6)	0.05882	1.00000	1.039e-3	1.720e-3	
muscular dystrophy-dystroglycanopathy	Walker-warburg syndrome	1	1	LARGE1 (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	Walker-warburg syndrome	1	1	B3GALNT2 (4)	0.05882	1.00000	1.039e-3	1.720e-3	
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	Walker-warburg syndrome	1	1	B4GAT1 (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
Hydrops fetalis	myasthenic syndrome, congenital, 1b, fast-channel	1	1	CHRNA1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
myopathy caused by variation in CRPPA	Walker-warburg syndrome	1	1	CRPPA (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
myopathy caused by variation in FKRP	Walker-warburg syndrome	1	1	FKRP (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
myopathy caused by variation in FKTN	Walker-warburg syndrome	1	1	FKTN (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
myopathy caused by variation in GMPPB	Walker-warburg syndrome	1	1	GMPPB (3)	0.05882	1.00000	1.039e-3	1.720e-3	40
myopathy caused by variation in POMGNT1	Walker-warburg syndrome	1	1	POMGNT1 (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
myopathy caused by variation in POMGNT2	Walker-warburg syndrome	1	1	POMGNT2 (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
myopathy caused by variation in POMT1	Walker-warburg syndrome	1	1	POMT1 (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
myopathy caused by variation in POMT2	Walker-warburg syndrome	1	1	POMT2 (4)	0.05882	1.00000	1.039e-3	1.720e-3	40
Nasal obstruction	Seasonal affective disorder	1	1	NPY (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Peters plus syndrome	Primary aldosteronism	1	1	B3GLCT (2)	0.05882	1.00000	1.039e-3	1.720e-3	116
Distal arthrogryposis	peutz-jeghers syndrome	1	1	STK11 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Coronary stenosis	PLD1-related congenital heart disease	1	1	PLD1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Pheochromocytoma	Polydactyly-macrocephaly syndrome	1	1	MAX (5)	0.05882	1.00000	1.039e-3	1.720e-3	78
Primary aldosteronism	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	1	1	CACNA1D (3)	0.05882	1.00000	1.039e-3	1.720e-3	116
progressive pseudorheumatoid arthropathy of childhood	Pulmonary edema	1	1	CCN6 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Dental enamel hypoplasia	Proximal renal tubular acidosis	1	1	SLC4A4 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Dental enamel hypoplasia	pycnodysostosis	1	1	CTSK (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Pyoderma gangrenosum	Vacterl association	1	1	PTPN6 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital anomaly of limb	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	1	1	HOXA11 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Loeys-dietz syndrome	Rienhoff syndrome	1	1	TGFB3 (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Patent ductus arteriosus	Right ventricle hypoplasia	1	1	BMP2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Loeys-dietz syndrome	Rupture, spontaneous	1	1	COL5A1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Body weight	dyskeratosis congenita, autosomal recessive 3	1	1	WRAP53 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Dyskinesia, limb and orofacial, infantile-onset	Thyroiditis	1	1	PDE10A (4)	0.05882	1.00000	1.039e-3	1.720e-3	
ectodermal dysplasia and immunodeficiency 2	Gliosarcoma	1	1	NFKBIA (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Dentinogenesis imperfecta	Enamel-renal syndrome	1	1	FAM20A (2)	0.05882	1.00000	1.039e-3	1.720e-3	390
Encephaloclastic proliferative vasculopathy	Hydrops fetalis	1	1	FLVCR2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
factor V and factor VIII, combined deficiency of, type 1	Hemophilia a	1	1	LMAN1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
FANCM Fanconi-like genomic instability disorder	Male infertility spermatogenesis disorder	1	1	FANCM (2)	0.05882	1.00000	1.039e-3	1.720e-3	
fanconi anemia complementation group b	Vacterl association	1	1	FANCB (7)	0.05882	1.00000	1.039e-3	1.720e-3	
fanconi anemia complementation group l	Vacterl association	1	1	FANCL (2)	0.05882	1.00000	1.039e-3	1.720e-3	195
Fowler syndrome	Hydrops fetalis	1	1	FLVCR2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
FOXG1 disorder	Rett syndrome	1	1	FOXG1 (6)	0.05882	1.00000	1.039e-3	1.720e-3	
hypogonadotropic hypogonadism 3 with or without anosmia	Male infertility spermatogenesis disorder	1	1	PROKR2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
hypogonadotropic hypogonadism 4 with or without anosmia	Male infertility spermatogenesis disorder	1	1	PROK2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
hypomyelinating leukodystrophy 2	Lymphedema	1	1	GJC2 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Ichthyosis	Ichthyosis vulgaris	1	1	FLG (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Hydrops fetalis	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	1	1	FOXP3 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Ichthyosis	immunodeficiency 63 with lymphoproliferation and autoimmunity	1	1	IL2RB (2)	0.05882	1.00000	1.039e-3	1.720e-3	
IMPDH1-related retinopathy	Thyroiditis	1	1	IMPDH1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	1
Dental enamel hypoplasia	intellectual developmental disorder and retinitis pigmentosa; IDDRP	1	1	SCAPER (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Intellectual developmental disorder seizures cerebellar	Seasonal affective disorder	1	1	RORA (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Growth hormone deficiency with pituitary anomalies	Male infertility spermatogenesis disorder	1	0	HESX1 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Distal arthrogryposis	Hecht syndrome	1	1	MYH8 (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Hemophilia a	Hemophilia a carriers	1	1	F8 (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Hemophilia a	Hemophilia b carriers	1	1	F9 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Deafness with cataract, intellectual disability, and polyneuropathy	Patent ductus arteriosus	1	1	PSMC3 (4)	0.05882	1.00000	1.039e-3	1.720e-3	
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Hydrops fetalis	1	1	PIEZO1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Delayed sleep phase syndrome	Seasonal affective disorder	1	1	CRY1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Dental enamel hypoplasia	Testicular regression syndrome	1	1	DHX37 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Central hypothyroidism	Dental enamel hypoplasia	1	1	ROBO1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Developmental disorder	familial hemophagocytic lymphohistiocytosis 4	1	1	STX11 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Developmental disorder	Riddle syndrome	1	1	RNF168 (7)	0.05882	1.00000	1.039e-3	1.720e-3	
Developmental disorder	immunodeficiency, common variable, 10	1	1	NFKB2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Diffuse gastric adenocarcinoma	severe combined immunodeficiency due to LAT deficiency	1	1	LAT (2)	0.05882	1.00000	1.039e-3	1.720e-3	215
Congenital fibrosis of extraocular muscles	Diffuse gastric and lobular breast cancer syndrome	1	1	CTNNA1 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Disorder of sex development	Primary aldosteronism	1	1	RXFP2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	116
aromatic l-amino acid decarboxylase deficiency	Pheochromocytoma	1	1	DDC (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Aromatic l-amino-acid decarboxylase deficiency	Pheochromocytoma	1	1	DDC (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Arthrogryposis with oculomotor limitation and retinal anomalies	Distal arthrogryposis	1	1	PIEZO2 (6)	0.05882	1.00000	1.039e-3	1.720e-3	
Arthrogryposis with oculomotor limitation and retinal anomalies	Pulmonary edema	1	1	PIEZO2 (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Atrophia bulborum heritaria	Primary aldosteronism	1	1	NDP (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Atypical absence epilepsy	Seasonal affective disorder	1	0	NPY (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Autoimmune neurological syndrome	Axonal hereditary motor and sensory neuropathy	1	1	MFN2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	168
Autoimmune neurological syndrome	multiple symmetric lipomatosis with partial lipodystrophy	1	1	MFN2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	168
Autoimmune neurological syndrome	Charcot-Marie-Tooth disease type 2A2	1	1	MFN2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	168
Autoimmune neurological syndrome	Delta-sarcoglycan-related limb-girdle muscular dystrophy r6	1	1	SGCD (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Autoimmune neurological syndrome	dilated cardiomyopathy 1L	1	1	SGCD (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Behavior disorders	Seasonal affective disorder	1	0	SLC6A4 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital finger flexion contractures	Distal arthrogryposis	1	1	TNNI2 (5)	0.05882	1.00000	1.039e-3	1.720e-3	258
congenital heart defects, multiple types, 7	Lymphedema	1	1	FLT4 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital hypoplasia of clavicle	Congenital total cataract	1	0	LEMD2 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital ichthyosis with hypotrichosis syndrome	Ichthyosis	1	0	ST14 (1)	0.05882	1.00000	1.039e-3	1.720e-3	232
Congenital limbs-face contractures-hypotonia-developmental delay syndrome	Distal arthrogryposis	1	1	NALCN (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital muscular hypertrophy-cerebral syndrome	Rett syndrome	1	1	SMC1A (4)	0.05882	1.00000	1.039e-3	1.720e-3	
congenital myasthenic syndrome 10	Rett syndrome	1	1	DOK7 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
congenital myopathy with myasthenic-like onset	Lymphedema	1	1	PAX7 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital retinal aneurysm	Rett syndrome	1	0	RS1 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital retinal anomaly	Rett syndrome	1	0	RS1 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital sclerocornea	Congenital total cataract	1	0	GJA8 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Contractures, pterygia, and spondylocarpotarsal fusion syndrome	Distal arthrogryposis	1	1	MYH3 (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Contractures, pterygia, and variable skeletal fusions syndrome	Distal arthrogryposis	1	1	MYH3 (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Coronary stenosis	Urinary retention	1	1	EDN1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Coronary stenosis	Myosin storage myopathy	1	1	MYH7 (3)	0.05882	1.00000	1.039e-3	1.720e-3	104
Biventricular noncompaction cardiomyopathy	Coronary stenosis	1	1	MYH7 (2)	0.05882	1.00000	1.039e-3	1.720e-3	104
Coronary stenosis	MYH7-related skeletal myopathy	1	1	MYH7 (3)	0.05882	1.00000	1.039e-3	1.720e-3	104
Coronary stenosis	dilated cardiomyopathy 1S	1	1	MYH7 (3)	0.05882	1.00000	1.039e-3	1.720e-3	104
craniosynostosis 2	Dental enamel hypoplasia	1	1	MSX2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital fibrosis of extraocular muscles	CTNNA1-related diffuse gastric and lobular breast cancer syndrome	1	1	CTNNA1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Cataract-alopecia-sclerodactyly syndrome	Congenital total cataract	1	0	LSS (1)	0.05882	1.00000	1.039e-3	1.720e-3	
CDKL5 disorder	Rett syndrome	1	1	CDKL5 (5)	0.05882	1.00000	1.039e-3	1.720e-3	55
Cerebrovascular trauma	Coronary stenosis	1	1	PHACTR1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Charcot-Marie-Tooth disease type 2A1	Pheochromocytoma	1	1	KIF1B (4)	0.05882	1.00000	1.039e-3	1.720e-3	
Childhood-onset benign chorea with striatal involvement	Thyroiditis	1	1	PDE10A (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Choroidal neovascularization	Gliosarcoma	1	0	VEGFA (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Chromosome 22q11.2 deletion syndrome	Loeys-dietz syndrome	1	0	ABCA3 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
20p12.3 microdeletion syndrome	Patent ductus arteriosus	1	1	BMP2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
22q11 deletion syndrome	Microform holoprosencephaly	1	1	FGF8 (3)	0.05882	1.00000	1.039e-3	1.720e-3	110
acroosteolysis dominant type	Vacterl association	1	1	NOTCH2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Aldosterone-producing adenoma	Primary aldosteronism	1	1	CACNA1D (2)	0.05882	1.00000	1.039e-3	1.720e-3	116
Alveolar capillary dysplasia	Vacterl association	1	1	FOXF1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Anomalous pulmonary venous 	Patent ductus arteriosus	1	0	PSMC3 (1)	0.05882	1.00000	1.039e-3	1.720e-3	
Anterior cruciate ligament injury	Catalepsy	1	1	CNR2 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Anterior pituitary function deficiency with variable immunodeficiency	Developmental disorder	1	1	NFKB2 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Benign mesial temporal lobe epilepsy	Generalized epilepsy with febrile seizures plus	1	1	CPA6 (3)	0.05882	1.00000	1.039e-3	1.720e-3	
Bile duct neoplasms	Gliosarcoma	1	1	EGFR (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Bohring-opitz-like syndrome	Distal arthrogryposis	1	1	KLHL7 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Breast cyst	Primary aldosteronism	1	1	CACNA1D (3)	0.05882	1.00000	1.039e-3	1.720e-3	116
Breast neoplasms 	Coloboma, cleft lip-palate and mental retardation syndrome	1	1	YAP1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	419
Breast neoplasms 	Uveal coloboma-cleft lip and palate-intellectual disability	1	1	YAP1 (5)	0.05882	1.00000	1.039e-3	1.720e-3	419
Autoimmune uveitis	Breast neoplasms 	1	1	CXCL8 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Breast neoplasms 	melanoma, cutaneous malignant, susceptibility to, 3	1	1	CDK4 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Brunner syndrome	Pheochromocytoma	1	1	MAOA (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Bullous pyoderma gangrenosum	Vacterl association	1	1	PTPN6 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
ciliary dyskinesia, primary, 39	Congenital fibrosis of extraocular muscles	1	1	LRRC56 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Coats disease	Primary aldosteronism	1	1	NDP (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Codas syndrome	Mitochondrial encephalomyopathy	1	1	LONP1 (7)	0.05882	1.00000	1.039e-3	1.720e-3	62
Congenital alveolar capillary dysplasia	Vacterl association	1	1	FOXF1 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
congenital bile acid synthesis defect 1	Generalized epilepsy with febrile seizures plus	1	1	HSD3B7 (2)	0.05882	1.00000	1.039e-3	1.720e-3	
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Distal arthrogryposis	1	1	NALCN (5)	0.05882	1.00000	1.039e-3	1.720e-3	
Hereditary motor and sensory neuropathies	Spinocerebellar ataxia	4	3	MME (6), SETX (6), PLD3 (5), PRX (1)	0.02395	0.06061	1.026e-3	1.720e-3	
Aortic disease	Osteonecrosis	2	1	NTM (1), MMP2 (2)	0.03509	0.10526	1.040e-3	1.721e-3	
Coffin-siris syndrome	Salivary gland neoplasms	2	2	SOX4 (6), SOX11 (4)	0.03333	0.11765	1.056e-3	1.748e-3	
Congenital left-sided heart lesions	Spondylosis	2	0	DACH1 (1), SUMF1 (1)	0.03704	0.08000	1.071e-3	1.771e-3	
Micrognathism	SATB2 associated disorder	1	1	SATB2 (2)	0.05556	1.00000	1.104e-3	1.805e-3	197
Micrognathism	Satb2 associated syndrome	1	1	SATB2 (3)	0.05556	1.00000	1.104e-3	1.805e-3	197
Congenital neutropenia	SEC61A1 deficiency	1	1	SEC61A1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Cutaneous mastocytosis	short-rib thoracic dysplasia 8 with or without polydactyly	1	1	DYNC2I1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Larsen syndrome	skeletal dysplasia, mild, with joint laxity and advanced bone age	1	1	CSGALNACT1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	127
Coffin-siris syndrome	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies	1	1	SOX11 (5)	0.05556	1.00000	1.104e-3	1.805e-3	
Larsen syndrome	spondyloepiphyseal dysplasia with congenital joint dislocations	1	1	CHST3 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
Cutaneous mastocytosis	Telangiectasia macularis eruptiva perstans	1	1	KIT (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Cutaneous mastocytosis	Testicular seminoma	1	1	KIT (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Asbestosis	Thiamine deficiency	1	1	SERPINA1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	236
Asbestosis	TPM4-related platelet disorder	1	1	TPM4 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Osteopetrosis	platelet-type bleeding disorder 18	1	1	RASGRP2 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Micrognathism	POLD1-related polyposis and colorectal cancer syndrome	1	1	POLD1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Developmental delay with autism spectrum disorder	Primary angle closure glaucoma	1	1	HERC2 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
Primary angle closure glaucoma	primary angle-closure glaucoma	1	1	SPATA13 (3)	0.05556	1.00000	1.104e-3	1.805e-3	23
amyotrophic lateral sclerosis type 1	Prion disease	1	1	SOD1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Prion disease	1	1	COL4A1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	33
Colpocephaly	Prion disease	1	1	COL4A1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	33
Prion disease	Retinal arterial tortuosity	1	1	COL4A1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	33
Bronchiectasis	pseudohypoaldosteronism, type IB1, autosomal recessive	1	1	SCNN1A (7)	0.05556	1.00000	1.104e-3	1.805e-3	70
Gaucher disease	pyruvate kinase deficiency of red cells	1	1	PKLR (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Atrioventricular block	Retractile testis	1	1	GNAI2 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Coffin-siris syndrome	rhabdoid tumor predisposition syndrome 1	1	1	SMARCB1 (6)	0.05556	1.00000	1.104e-3	1.805e-3	299
Micrognathism	Right aortic arch	1	0	BLTP1 (1)	0.05556	1.00000	1.104e-3	1.805e-3	
Gaucher disease	Riley-day syndrome	1	1	ELP1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Gaucher disease	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	1	1	GBA1 (7)	0.05556	1.00000	1.104e-3	1.805e-3	114
Asbestosis	Genetic lipodystrophy	1	0	EPHX1 (1)	0.05556	1.00000	1.104e-3	1.805e-3	
geroderma osteodysplastica	Larsen syndrome	1	1	GORAB (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Gingivitis	Hodgkin disease	1	1	TNFRSF8 (2)	0.05556	1.00000	1.104e-3	1.805e-3	334
Glass syndrome	Micrognathism	1	1	SATB2 (2)	0.05556	1.00000	1.104e-3	1.805e-3	197
Chondrodysplasia	glyceronephosphate O-acyltransferase deficiency	1	1	GNPAT (2)	0.05556	1.00000	1.104e-3	1.805e-3	305
hearing impairment and infertile male syndrome	Male reproductive organ cancer	1	1	CDC14A (2)	0.05556	1.00000	1.104e-3	1.805e-3	170
Cutaneous mastocytosis	Hemoglobin high altitude adaptation	1	1	EGLN1 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
Hengel maroofian schols syndrome	Toxic nodular goiter	1	1	BCAS3 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
Eye abnormalities	Hepatic ductular hypoplasia	1	1	JAG1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Complement component deficiency	hereditary angioedema with C1Inh deficiency	1	1	SERPING1 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
Complement component deficiency	Hereditary c1 esterase inhibitor deficiency	1	1	SERPING1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
mandibular hypoplasia-deafness-progeroid syndrome	Micrognathism	1	1	POLD1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
mandibuloacral dysplasia progeroid syndrome	Micrognathism	1	1	MTX2 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Cutaneous mastocytosis	Mast cell leukemia	1	1	KIT (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Chondrodysplasia	mend syndrome	1	1	EBP (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Micrognathism	Microstomia	1	0	LEMD2 (1)	0.05556	1.00000	1.104e-3	1.805e-3	
Gaucher disease	Myoclonus-renal failure syndrome	1	1	SCARB2 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Eye abnormalities	myopathy caused by variation in CRPPA	1	1	CRPPA (3)	0.05556	1.00000	1.104e-3	1.805e-3	40
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome	Primary angle closure glaucoma	1	1	GLIS3 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
nephrotic syndrome, type 19	Osteopetrosis	1	1	NUP160 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Congenital brain malformation	joubert syndrome 14	1	1	TMEM237 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
Congenital hypoplasia of part of brain	joubert syndrome 14	1	1	TMEM237 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
joubert syndrome 14	Microgyria	1	1	TMEM237 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
Congenital brain malformation	joubert syndrome 36	1	1	FAM149B1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
Congenital hypoplasia of part of brain	joubert syndrome 36	1	1	FAM149B1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
joubert syndrome 36	Microgyria	1	1	FAM149B1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
knobloch syndrome 1	Primary angle closure glaucoma	1	1	COL18A1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
leukocyte adhesion deficiency 3	Osteopetrosis	1	1	FERMT3 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Male reproductive organ cancer	Myotonia	1	0	SCN4A (1)	0.05556	1.00000	1.104e-3	1.805e-3	170
Male reproductive organ cancer	Potassium-aggravated myotonia	1	1	SCN4A (2)	0.05556	1.00000	1.104e-3	1.805e-3	170
Male reproductive organ cancer	SCN4A-related myopathy, autosomal recessive	1	1	SCN4A (2)	0.05556	1.00000	1.104e-3	1.805e-3	170
Cutaneous mastocytosis	Urticaria pigmentosa	1	1	KIT (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Gaucher disease	Visceral acid sphingomyelinase deficiency	1	1	SMPD1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Micrognathism	Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	1	1	LEMD2 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Chondrodysplasia	X-linked chondrodysplasia punctata 1	1	1	ARSL (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Coffin-siris syndrome	X-linked chondrodysplasia punctata 1	1	1	ARSL (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Chondrodysplasia	X-linked dominant chondrodysplasia chassaing-lacombe type	1	1	HDAC6 (6)	0.05556	1.00000	1.104e-3	1.805e-3	305
Chondrodysplasia	X-linked dominant chondrodysplasia punctata	1	1	EBP (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Hodgkin disease	X-linked hyper-igm syndrome	1	1	CD40LG (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Osteopetrosis	osteopetrosis, autosomal dominant 3	1	1	PLEKHM1 (8)	0.05556	1.00000	1.104e-3	1.805e-3	
Asbestosis	Panniculitis	1	1	SERPINA1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	236
Atrioventricular block	holt-oram syndrome	1	1	TBX5 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Hodgkin disease	hyper-IgM syndrome type 1	1	1	CD40LG (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Hodgkin disease	hyper-IgM syndrome type 3	1	1	CD40 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Hodgkin disease	hypoparathyroidism-deafness-renal disease syndrome	1	1	GATA3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
hypopigmentation, organomegaly, and delayed myelination and development	Osteopetrosis	1	1	CLCN7 (7)	0.05556	1.00000	1.104e-3	1.805e-3	265
Hypotrichosis	Palmoplantar keratoderma and congenital alopecia	1	1	LSS (5)	0.05556	1.00000	1.104e-3	1.805e-3	
Congenital neutropenia	immunodeficiency 76	1	1	FCHO1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	211
Hodgkin disease	immunodeficiency 92	1	1	REL (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Cutaneous mastocytosis	Intellectual developmental disorder growth seizures	1	1	ABCA2 (4)	0.05556	1.00000	1.104e-3	1.805e-3	237
Intellectual developmental disorder hypotonia spastic sleep	Prion disease	1	1	ANK3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	33
Congenital brain malformation	Intellectual developmental disorder microcephaly cerebellar	1	1	CASK (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Coffin-siris syndrome	Intellectual developmental disorder microcephaly ocular	1	1	SOX11 (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Congenital neutropenia	Dursun syndrome	1	1	G6PC3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
dysosteosclerosis	Osteopetrosis	1	1	TCIRG1 (8)	0.05556	1.00000	1.104e-3	1.805e-3	
Congenital neutropenia	dysosteosclerosis	1	1	TCIRG1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
ectodermal dysplasia and immunodeficiency 2	Hodgkin disease	1	1	NFKBIA (2)	0.05556	1.00000	1.104e-3	1.805e-3	
EEM syndrome	Hypotrichosis	1	1	CDH3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Cutaneous mastocytosis	EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition	1	1	EGLN1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
ehlers-danlos syndrome, spondylodysplastic type, 1	Larsen syndrome	1	1	B4GALT7 (2)	0.05556	1.00000	1.104e-3	1.805e-3	127
Chondrodysplasia	Eiken skeletal dysplasia	1	1	PTH1R (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Coffin-siris syndrome	familial meningioma	1	1	SMARCE1 (7)	0.05556	1.00000	1.104e-3	1.805e-3	
fibrodysplasia ossificans progressiva	Primary angle closure glaucoma	1	1	ACVR1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
FLNB-associated autosomal dominant filamin related bone disorder	Larsen syndrome	1	1	FLNB (7)	0.05556	1.00000	1.104e-3	1.805e-3	
Eye abnormalities	frank-ter haar syndrome	1	1	SH3PXD2B (2)	0.05556	1.00000	1.104e-3	1.805e-3	40
ciliopathy-IFT74	Congenital brain malformation	1	1	IFT74 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
ciliopathy-IFT74	Congenital hypoplasia of part of brain	1	1	IFT74 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
ciliopathy-IFT74	Microgyria	1	1	IFT74 (2)	0.05556	1.00000	1.104e-3	1.805e-3	124
coffin-lowry syndrome	Coffin-siris syndrome	1	1	RPS6KA3 (6)	0.05556	1.00000	1.104e-3	1.805e-3	
coffin-lowry syndrome	Micrognathism	1	1	RPS6KA3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	197
Coffin-siris syndrome	intellectual disability-sparse hair-brachydactyly syndrome	1	1	SMARCA2 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
complex cortical dysplasia with other brain malformations 2	Cortical dysplasia with other brain malformations	1	1	KIF5C (4)	0.05556	1.00000	1.104e-3	1.805e-3	144
Bronchiectasis	congenital disorder of glycosylation, type 2v	1	1	EDEM3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	70
Congenital hypoplasia of clavicle	Micrognathism	1	0	LEMD2 (1)	0.05556	1.00000	1.104e-3	1.805e-3	
Congenital hypotrichosis with juvenile macular dystrophy	Hypotrichosis	1	1	CDH3 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
congenital muscular dystrophy with intellectual disability and severe epilepsy	Primary angle closure glaucoma	1	1	DPM2 (2)	0.05556	1.00000	1.104e-3	1.805e-3	23
Congenital myelofibrosis with anemia	Congenital neutropenia	1	1	RBSN (3)	0.05556	1.00000	1.104e-3	1.805e-3	211
Congenital neutropenia	Neutrophilic leukemia	1	1	CSF3R (2)	0.05556	1.00000	1.104e-3	1.805e-3	211
Congenital neutropenia	Neutropenia, nonimmune chronic idiopathic, adult	1	1	GFI1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	211
cowden syndrome 6	Substance-induced psychosis	1	1	AKT1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
cranioectodermal dysplasia 1	Eye abnormalities	1	1	IFT122 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Craniofacial anomalies with anterior segment dysgenesis	Eye abnormalities	1	1	VSX1 (5)	0.05556	1.00000	1.104e-3	1.805e-3	
Cutaneous mastocytosis	Hemoglobinopathy toms river	1	1	HBG2 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Congenital neutropenia	Cyclic hematopoiesis	1	1	ELANE (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Deafness with congenital heart defects and posterior embryotoxon	Eye abnormalities	1	1	JAG1 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
Dentin dysplasia	Tricho-dento-osseous syndrome	1	1	DLX3 (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Dentin dysplasia	Enamel-renal syndrome	1	1	FAM20A (2)	0.05556	1.00000	1.104e-3	1.805e-3	390
desbuquois dysplasia 1	Larsen syndrome	1	1	CANT1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Atrioventricular block	dilated cardiomyopathy 1HH	1	1	BAG3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	3
Atrioventricular block	dilated cardiomyopathy 1I	1	1	DES (2)	0.05556	1.00000	1.104e-3	1.805e-3	3
Arginase deficiency	Asbestosis	1	1	ARG1 (5)	0.05556	1.00000	1.104e-3	1.805e-3	
arthrogryposis multiplex congenita 3, myogenic type	Atrioventricular block	1	1	SYNE1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Arthrogryposis with oculomotor limitation and retinal anomalies	Larsen syndrome	1	1	PIEZO2 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
asphyxiating thoracic dystrophy 3	Micrognathism	1	1	DYNC2H1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Asbestosis	ATF6-related retinopathy	1	1	ATF6 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
atypical hemolytic-uremic syndrome with B factor anomaly	Complement component deficiency	1	1	CFB (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Atypical teratoid rhabdoid tumor	Coffin-siris syndrome	1	1	SMARCB1 (6)	0.05556	1.00000	1.104e-3	1.805e-3	299
autosomal dominant osteopetrosis 2	Osteopetrosis	1	1	CLCN7 (7)	0.05556	1.00000	1.104e-3	1.805e-3	265
Atrioventricular block	autosomal recessive ataxia, Beauce type	1	1	SYNE1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
autosomal recessive osteopetrosis 1	Osteopetrosis	1	1	TCIRG1 (8)	0.05556	1.00000	1.104e-3	1.805e-3	
autosomal recessive osteopetrosis 1	Congenital neutropenia	1	1	TCIRG1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
autosomal recessive osteopetrosis 2	Osteopetrosis	1	1	TNFSF11 (5)	0.05556	1.00000	1.104e-3	1.805e-3	
autosomal recessive osteopetrosis 3	Osteopetrosis	1	1	CA2 (6)	0.05556	1.00000	1.104e-3	1.805e-3	
autosomal recessive osteopetrosis 4	Osteopetrosis	1	1	CLCN7 (7)	0.05556	1.00000	1.104e-3	1.805e-3	265
autosomal recessive osteopetrosis 5	Osteopetrosis	1	1	OSTM1 (5)	0.05556	1.00000	1.104e-3	1.805e-3	265
autosomal recessive osteopetrosis 6	Osteopetrosis	1	1	PLEKHM1 (8)	0.05556	1.00000	1.104e-3	1.805e-3	
autosomal recessive osteopetrosis 8	Osteopetrosis	1	1	SNX10 (5)	0.05556	1.00000	1.104e-3	1.805e-3	265
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Congenital neutropenia	1	1	G6PC3 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
B3GALT6-congenital disorder of glycosylation	Larsen syndrome	1	1	B3GALT6 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Barakat syndrome	Hodgkin disease	1	1	GATA3 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Asbestosis	Beriberi	1	1	SERPINA1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	236
Bilateral frontoparietal polymicrogyria	Cortical dysplasia with other brain malformations	1	1	ADGRG1 (5)	0.05556	1.00000	1.104e-3	1.805e-3	
Blomstrand lethal chondrodysplasia	Chondrodysplasia	1	1	PTH1R (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Bnar syndrome	Eye abnormalities	1	1	FREM1 (5)	0.05556	1.00000	1.104e-3	1.805e-3	
Boomerang dysplasia	Larsen syndrome	1	1	FLNB (6)	0.05556	1.00000	1.104e-3	1.805e-3	
Brachytelephalangic chondrodysplasia punctata	Chondrodysplasia	1	1	ARSL (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Brachytelephalangic chondrodysplasia punctata	Coffin-siris syndrome	1	1	ARSL (2)	0.05556	1.00000	1.104e-3	1.805e-3	
brain malformations with or without urinary tract defects	Toxic nodular goiter	1	1	NFIA (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Bullous diffuse cutaneous mastocytosis	Cutaneous mastocytosis	1	1	KIT (3)	0.05556	1.00000	1.104e-3	1.805e-3	
C9 deficiency	Complement component deficiency	1	1	C9 (5)	0.05556	1.00000	1.104e-3	1.805e-3	
Cardiac-urogenital syndrome	Primary angle closure glaucoma	1	1	MYRF (6)	0.05556	1.00000	1.104e-3	1.805e-3	
cerebroretinal microangiopathy with calcifications and cysts 2	Toxic nodular goiter	1	1	STN1 (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Charcot-Marie-Tooth disease type 4	Gaucher disease	1	1	PRX (2)	0.05556	1.00000	1.104e-3	1.805e-3	
Chondrodysplasia	chondrodysplasia with joint dislocations, gpapp type	1	1	BPNT2 (7)	0.05556	1.00000	1.104e-3	1.805e-3	305
Chromosome 1p32-p31 deletion syndrome	Toxic nodular goiter	1	1	NFIA (2)	0.05556	1.00000	1.104e-3	1.805e-3	
1p31p32 microdeletion syndrome	Toxic nodular goiter	1	1	NFIA (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Acid sphingomyelinase deficiency	Gaucher disease	1	1	SMPD1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
Alkuraya-kucinskas syndrome	Micrognathism	1	1	BLTP1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	
alkylglycerone-phosphate synthase deficiency	Chondrodysplasia	1	1	AGPS (2)	0.05556	1.00000	1.104e-3	1.805e-3	305
Alopecia universalis	Hypotrichosis	1	0	HR (1)	0.05556	1.00000	1.104e-3	1.805e-3	
Alpha-1 antitrypsin deficiency	Asbestosis	1	1	SERPINA1 (3)	0.05556	1.00000	1.104e-3	1.805e-3	236
Angel-shaped phalangoepiphyseal dysplasia	Chondrodysplasia	1	1	GDF5 (4)	0.05556	1.00000	1.104e-3	1.805e-3	
Congenital diaphragmatic hernia	Vesicoureteral reflux	2	1	ZFPM2 (2), NIPBL (1)	0.03509	0.10000	1.096e-3	1.805e-3	
Cryptorchidism	Vesicoureteral reflux	2	0	KAT6B (1), NIPBL (1)	0.03509	0.10000	1.096e-3	1.805e-3	
De lange syndrome	Trichorhinophalangeal syndrome	1	1	RAD21 (3)	0.11111	0.33333	1.169e-3	1.876e-3	
Rickets	Trifunctional protein deficiency	1	0	HADHB (1)	0.11111	0.33333	1.169e-3	1.876e-3	
Deafness, aminoglycoside-induced	Wolfram syndrome	1	0	ND1 (1)	0.11111	0.33333	1.169e-3	1.876e-3	
Bone osteosarcoma	Woolly hair	1	1	RB1 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Benign mucous membrane pemphigoid with ocular involvement	Intrahepatic bile duct cancer	1	1	HLA-DQB1 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Bouillaud’s disease	Intrahepatic bile duct cancer	1	1	HLA-DQB1 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Laryngeal disease	Leukocyte disorders	1	1	PLG (3)	0.11111	0.33333	1.169e-3	1.876e-3	246
Laryngeal disease	Vissers-bodmer syndrome	1	1	IPO8 (5)	0.11111	0.33333	1.169e-3	1.876e-3	
Leukocyte adhesion deficiency	Skin ulcer	1	1	ITGB2 (6)	0.11111	0.33333	1.169e-3	1.876e-3	142
Congenital malformation syndromes associated with short stature	Male infertility testicular dysgenesis	1	0	SOS2 (1)	0.11111	0.33333	1.169e-3	1.876e-3	
Cryoglobulinemia	Hepatic fibrosis	1	1	IFNL3 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Hepatic fibrosis	Intrahepatic bile duct cancer	1	1	IFNL3 (3)	0.11111	0.33333	1.169e-3	1.876e-3	
Hepatic fibrosis	Ovarian mucinous adenocarcinoma	1	1	IFNL3 (3)	0.11111	0.33333	1.169e-3	1.876e-3	
Cadasil	hereditary breast carcinoma	1	1	ATRIP (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Curling ulcer	Three-vessel coronary artery disease	1	0	ABO (1)	0.11111	0.33333	1.169e-3	1.876e-3	
Gitelman syndrome	Pfaundler-hurler syndrome	1	0	IDUA (1)	0.11111	0.33333	1.169e-3	1.876e-3	
Clubfoot	Pfaundler-hurler syndrome	1	1	PITX1 (6)	0.11111	0.33333	1.169e-3	1.876e-3	
Proximal spinal muscular atrophy	Tay-sachs disease	1	0	SETX (1)	0.11111	0.33333	1.169e-3	1.876e-3	
Carotid artery thrombosis	Microvillus inclusion disease	1	1	STXBP2 (3)	0.11111	0.33333	1.169e-3	1.876e-3	
Congenital musculoskeletal anomalies	Myelogenous leukemia	1	1	ABL1 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Atrial standstill	Ductus arteriosus, patent	1	1	NPPA (4)	0.11111	0.33333	1.169e-3	1.876e-3	
Benign infantile epilepsy	familial sleep-related hypermotor epilepsy	1	1	CHRNA2 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
familial sleep-related hypermotor epilepsy	Focal onset epileptic seizure	1	1	CHRNB2 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Hypocalcemia	Hypoparathyroidism	1	1	PTH (3)	0.11111	0.33333	1.169e-3	1.876e-3	
Hypoparathyroidism	Rickets	1	1	PTH (3)	0.11111	0.33333	1.169e-3	1.876e-3	
Non-syndromic cataract	Sutural cataract	1	1	BFSP2 (3)	0.11111	0.33333	1.169e-3	1.876e-3	51
Embryonal nuclear cataract	Non-syndromic cataract	1	1	CRYBB3 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
46, xy disorder of sex development	46,xx ovotesticular disorder of sex development	1	1	NR5A1 (2)	0.11111	0.33333	1.169e-3	1.876e-3	183
46, xy disorder of sex development	Disorders of sex development	1	1	LHCGR (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Angiokeratoma	Cerebral cavernous malformation	1	1	KRIT1 (6)	0.11111	0.33333	1.169e-3	1.876e-3	249
Congenital hypoplasia of lung	De lange syndrome	1	1	NIPBL (3)	0.11111	0.33333	1.169e-3	1.876e-3	
Congenital hearing disorder	Digenic alport syndrome	1	1	COL4A3 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Congenital musculoskeletal anomalies	Shprintzen-goldberg syndrome	1	1	SKI (6)	0.11111	0.33333	1.169e-3	1.876e-3	
Congenital musculoskeletal anomalies	Congenital respiratory system anomaly	1	0	TGFB2 (1)	0.11111	0.33333	1.169e-3	1.876e-3	
Congenital musculoskeletal anomalies	Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome	1	1	TMCO1 (4)	0.11111	0.33333	1.169e-3	1.876e-3	
Cerebrooculofacioskeletal syndrome	Cholestasis	1	1	ERCC1 (5)	0.11111	0.33333	1.169e-3	1.876e-3	
Cholestasis	Cockayne syndrome	1	1	ERCC1 (2)	0.11111	0.33333	1.169e-3	1.876e-3	
Autism, x-linked	Bruxism	1	1	MECP2 (2)	0.11111	0.33333	1.169e-3	1.876e-3	55
Autism, x-linked	Bulbar palsy	1	1	MECP2 (2)	0.11111	0.33333	1.169e-3	1.876e-3	55
Benign myoclonic epilepsy	Early onset epilepsy with developmental delay	1	1	CNTN2 (4)	0.11111	0.33333	1.169e-3	1.876e-3	284
C1q deficiency	Exanthema	1	1	C1QA (5)	0.11111	0.33333	1.169e-3	1.876e-3	
Bombay phenotype	Vitamin deficiency disorder	1	1	FUT2 (3)	0.09091	0.50000	1.169e-3	1.876e-3	100
Benign pemphigus	Demyelinating hereditary motor and sensory neuropathy	1	1	FBLN5 (3)	0.09091	0.50000	1.169e-3	1.876e-3	94
Darier disease	Demyelinating hereditary motor and sensory neuropathy	1	1	FBLN5 (3)	0.09091	0.50000	1.169e-3	1.876e-3	94
Cryohydrocytosis	Distal renal tubular acidosis	1	1	SLC4A1 (7)	0.09091	0.50000	1.169e-3	1.876e-3	
Donnai-barrow syndrome	Intracellular cobalamin metabolism disorder	1	1	LMBRD1 (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Benign pemphigus	Complex spastic paraplegia	1	1	ALDH18A1 (4)	0.09091	0.50000	1.169e-3	1.876e-3	
Complex spastic paraplegia	Darier disease	1	1	ALDH18A1 (4)	0.09091	0.50000	1.169e-3	1.876e-3	
Cone-rod synaptic disorder	Nocturnal frontal lobe epilepsy	1	1	CABP4 (4)	0.09091	0.50000	1.169e-3	1.876e-3	
22q11.2 deletion syndrome	Dysphonia	1	1	COMT (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Anaplasia	Maffucci syndrome	1	1	HIF1A (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Aortic atherosclerosis	Diabetic polyneuropathy	1	0	NYAP2 (1)	0.09091	0.50000	1.169e-3	1.876e-3	
Asperger syndrome	Post-operative myocardial infarction	1	0	FHIT (1)	0.09091	0.50000	1.169e-3	1.876e-3	
Autoinflammatory disease, familial, behcet-like 3	Hepatic insufficiency	1	1	RELA (3)	0.09091	0.50000	1.169e-3	1.876e-3	80
Corneal ulcer	Ovarian hyperstimulation syndrome	1	1	SERPINF1 (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Cebalid syndrome	Small cell carcinoma	1	1	MTOR (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Cataract-microcornea syndrome	Chromosome 1q21.1 deletion syndrome	1	1	GJA8 (6)	0.09091	0.50000	1.169e-3	1.876e-3	
Normal pressure hydrocephalus	primary ciliary dyskinesia	1	1	CFAP43 (4)	0.09091	0.50000	1.169e-3	1.876e-3	
Imperforate anus	Peripheral pulmonary artery stenosis	1	0	CUL9 (1)	0.09091	0.50000	1.169e-3	1.876e-3	
Peritoneal disease	Soft tissue neoplasms	1	0	ERBB4 (1)	0.09091	0.50000	1.169e-3	1.876e-3	312
Bone marrow failure syndromes	Primary cutaneous anaplastic large cell lymphoma	1	1	NPM1 (3)	0.09091	0.50000	1.169e-3	1.876e-3	
Combined pituitary hormone deficiency	Genetic panhypopituitarism	1	1	PROP1 (3)	0.09091	0.50000	1.169e-3	1.876e-3	
Dysphonia	Glucocorticoid deficiency	1	0	COMT (1)	0.09091	0.50000	1.169e-3	1.876e-3	
Glucocorticoid deficiency	Toe syndactyly-telecanthus-anogenital and renal malformations syndrome	1	1	STAR (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Glycoprotein ia deficiency	Von willebrand disorder	1	0	ITGA2 (1)	0.09091	0.50000	1.169e-3	1.876e-3	
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema	Granulomatous disease	1	1	G6PD (2)	0.09091	0.50000	1.169e-3	1.876e-3	12
Autoinflammatory disease, systemic, x-linked	Granulomatous disease	1	1	G6PD (2)	0.09091	0.50000	1.169e-3	1.876e-3	12
Bone marrow failure syndromes	Growth hormone insensitivity syndrome with immune dysregulation	1	1	ERCC6L2 (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Charge syndrome	Uinary system neoplasms	1	1	WDR11 (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Congenital arteriovenous malformation	Usher syndrome type 2	1	1	ADGRV1 (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Disseminated intravascular coagulation	Water intoxication	1	1	OXT (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Tubulointerstitial kidney disease	Xanthomatosis	1	1	ABCG5 (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Charge syndrome	Intermittent hydrarthrosis	1	1	TNFRSF1A (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Cardiac conduction disease	Keppen-lubinsky syndrome	1	1	MYH6 (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Imperforate anus	Syndactyly of the toes	1	0	CUL9 (1)	0.09091	0.50000	1.169e-3	1.876e-3	
Hypercapnia	Small cell carcinoma	1	0	NPPA (1)	0.09091	0.50000	1.169e-3	1.876e-3	
Chondrosarcoma	Eosinophilic leukemia	1	1	PDGFRA (2)	0.09091	0.50000	1.169e-3	1.876e-3	
Fabry disease	Mitral valve disease	1	0	ACE (1)	0.09091	0.50000	1.169e-3	1.876e-3	60
Fanconi-bickel syndrome	Transient neonatal diabetes mellitus	1	1	SLC2A2 (5)	0.09091	0.50000	1.169e-3	1.876e-3	35
Follicular lymphoma	Thromboangiitis obliterans	1	1	HLA-DRB1 (2)	0.09091	0.50000	1.169e-3	1.876e-3	254
Dysbiosis	Giant cell arteritis	1	1	TLR4 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Chorea	Dyskinesia with orofacial involvement	1	1	ADCY5 (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Chorea	Dyskinesia, familial, with facial myokymia	1	1	ADCY5 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Dyskinesia, limb and orofacial, infantile-onset	Tooth disease	1	1	PDE10A (4)	0.05263	1.00000	1.169e-3	1.876e-3	413
Dyslipidemias	dysosteosclerosis	1	1	TCIRG1 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
Clinodactyly	Dystrophinopathy	1	0	DMD (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Chorea	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	1	1	AFG3L2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Junctional epidermolysis bullosa	1	1	PLEC (4)	0.05263	1.00000	1.169e-3	1.876e-3	229
Epidermolysis bullosa simplex	Junctional epidermolysis bullosa	1	1	KRT14 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Junctional epidermolysis bullosa	1	1	ITGA3 (7)	0.05263	1.00000	1.169e-3	1.876e-3	
Esophageal and gastric varices	Potassium deficiency	1	1	SST (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Expressive language delay	Gross motor development delay	1	0	KLF7 (1)	0.05263	1.00000	1.169e-3	1.876e-3	55
familial hyperaldosteronism type III	Sick sinus syndrome	1	1	KCNJ5 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Familial partial lipodystrophy	Lipodystrophy	1	1	CIDEC (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Familial telangiectasia cancer syndrome	Seckel syndrome	1	1	ATR (6)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental regression	intellectual disability, autosomal dominant 42	1	1	GNB1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	424
Interstitial systitis	Potassium deficiency	1	0	ADRB2 (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Gross motor development delay	Iodide peroxidase deficiency	1	1	TPO (2)	0.05263	1.00000	1.169e-3	1.876e-3	
keutel syndrome	Spondyloepiphyseal dysplasia	1	1	MGP (2)	0.05263	1.00000	1.169e-3	1.876e-3	
keutel syndrome	Uremia	1	1	MGP (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	Nemaline myopathy	1	1	MYO18B (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Hemangiosarcoma	knobloch syndrome 1	1	1	COL18A1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental regression	krabbe disease	1	1	GALC (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Lafora body disease	Potassium deficiency	1	1	PRDM8 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Junctional epidermolysis bullosa	Laryngo-onycho-cutaneous syndrome	1	1	LAMA3 (7)	0.05263	1.00000	1.169e-3	1.876e-3	
LIPE-related familial partial lipodystrophy	Lipodystrophy	1	1	LIPE (3)	0.05263	1.00000	1.169e-3	1.876e-3	79
Diabetic nephropathy type 2	lissencephaly spectrum disorder with complex brainstem malformation	1	1	MACF1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Carcinogenesis	Gestational trophoblastic disease	1	0	POU5F1 (1)	0.05263	1.00000	1.169e-3	1.876e-3	45
Clinodactyly	Glass syndrome	1	1	SATB2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	197
Glucocorticoid receptor deficiency/resistance	Potassium deficiency	1	1	NR3C1 (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Graves ophthalmopathy	gray platelet syndrome	1	1	NBEAL2 (7)	0.05263	1.00000	1.169e-3	1.876e-3	153
Dyslipidemias	H syndrome	1	1	SLC29A3 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
Hearing loss with hypertrophic cardiomyopathy	Junctional epidermolysis bullosa	1	0	MYO6 (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental regression	Hepatoencephalopathy due to combined oxidative phosphorylation defect	1	1	GFM1 (4)	0.05263	1.00000	1.169e-3	1.876e-3	424
Developmental regression	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	1	1	UNC13A (2)	0.05263	1.00000	1.169e-3	1.876e-3	
neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Semilobar holoprosencephaly	1	1	DLL1 (3)	0.05263	1.00000	1.169e-3	1.876e-3	110
Developmental regression	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	1	1	UNC13A (2)	0.05263	1.00000	1.169e-3	1.876e-3	
neuropathy, hereditary sensory, type 1D	Potassium deficiency	1	1	ATL1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	116
Developmental regression	NMNAT1-related retinopathy	1	1	NMNAT1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
NMNAT1-related retinopathy	Spondyloepiphyseal dysplasia	1	1	NMNAT1 (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Hypoplastic left heart syndrome	NOTCH1-related AOS spectrum disorder	1	1	NOTCH1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental regression	obsolete Stüve-Wiedemann syndrome	1	1	LIFR (2)	0.05263	1.00000	1.169e-3	1.876e-3	
OFD1-related ciliopathy	Spondyloepiphyseal dysplasia	1	1	OFD1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Chorea	optic atrophy 10 with or without ataxia, intellectual disability, and seizures	1	1	RTN4IP1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	1
Carcinogenesis	Osteofibrous dysplasia	1	1	MET (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Nuclear cataract	Other specified diabetes mellitus with unspecified complications	1	1	WFS1 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Carcinogenesis	papillary renal cell carcinoma	1	1	MET (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Melas syndrome	Periodic paralysis with later-onset distal motor neuropathy	1	0	ATP8 (1)	0.05263	1.00000	1.169e-3	1.876e-3	26
Peters plus syndrome	Potassium deficiency	1	1	B3GLCT (2)	0.05263	1.00000	1.169e-3	1.876e-3	116
Corneal neovascularization	peutz-jeghers syndrome	1	1	STK11 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Graves ophthalmopathy	platelet-type bleeding disorder 17	1	1	GFI1B (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Graves ophthalmopathy	platelet-type bleeding disorder 18	1	1	RASGRP2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Junctional epidermolysis bullosa	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (4)	0.05263	1.00000	1.169e-3	1.876e-3	229
Lipodystrophy	PLIN1-related familial partial lipodystrophy	1	1	PLIN1 (3)	0.05263	1.00000	1.169e-3	1.876e-3	79
Clinodactyly	poirier-bienvenu neurodevelopmental syndrome	1	1	CSNK2B (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Lipodystrophy	POLD1-related polyposis and colorectal cancer syndrome	1	1	POLD1 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Hematologic disease	porphyria due to ALA dehydratase deficiency	1	1	ALAD (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Giant cell arteritis	Primary immunodeficiency with defective natural killer cell cytotoxicity	1	1	FCGR3A (4)	0.05263	1.00000	1.169e-3	1.876e-3	
primordial dwarfism-immunodeficiency-lipodystrophy syndrome	Seckel syndrome	1	1	PRIM1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	137
Clinodactyly	primrose syndrome	1	1	ZBTB20 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Clinodactyly	progressive muscular dystrophy	1	1	DMD (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Potassium deficiency	Progressive myoclonic epilepsy with intracellular inclusions	1	1	PRDM8 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
progressive pseudorheumatoid arthropathy of childhood	Spondyloepiphyseal dysplasia	1	1	CCN6 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital heart septal defect	renpenning syndrome	1	1	PQBP1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	41
Amnesia	Retrograde amnesia	1	1	PREP (2)	0.05263	1.00000	1.169e-3	1.876e-3	66
Hypoplastic left heart syndrome	Right hypoplastic heart syndrome	1	0	TBX20 (1)	0.05263	1.00000	1.169e-3	1.876e-3	41
Right ventricle hypoplasia	Uremia	1	1	BMP2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Potassium deficiency	Trichomegaly	1	1	FGF5 (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Nuclear cataract	Wolfram-like syndrome	1	1	WFS1 (8)	0.05263	1.00000	1.169e-3	1.876e-3	
Gross motor development delay	X-linked intellectual disability-cerebellar hypoplasia syndrome	1	1	OPHN1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Clinodactyly	X-linked Opitz G/BBB syndrome	1	1	MID1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Clinodactyly	X-linked opitz syndrome	1	1	MID1 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
Semilobar holoprosencephaly	Xq25 microduplication syndrome	1	1	STAG2 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Chorea	hsd10 mitochondrial disease	1	1	HSD17B10 (2)	0.05263	1.00000	1.169e-3	1.876e-3	1
Dyslipidemias	hypercholesterolemia, familial, 1	1	1	LDLR (3)	0.05263	1.00000	1.169e-3	1.876e-3	57
hypoinsulinemic hypoglycemia and body hemihypertrophy	Lipodystrophy	1	1	AKT2 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Carcinogenesis	hypoparathyroidism-deafness-renal disease syndrome	1	1	GATA3 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental regression	hypotonia, ataxia, and delayed development syndrome	1	1	EBF3 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Hemangiosarcoma	immune dysregulation, autoimmunity, and autoinflammation	1	1	PLCG1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	4
Clinodactyly	Intellectual developmental disorder cataracts myopathy	1	1	ZBTB20 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Chorea	Intellectual developmental disorder seizures movement	1	1	PDE2A (4)	0.05263	1.00000	1.169e-3	1.876e-3	1
Lipodystrophy	mandibular hypoplasia-deafness-progeroid syndrome	1	1	POLD1 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
maple syrup urine disease, mild variant	Tooth disease	1	1	PPM1K (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Hemangiosarcoma	Merkel cell carcinoma	1	0	MYC (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Gross motor development delay	microcephalic osteodysplastic dysplasia, Saul-Wilson type	1	1	COG4 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
microcephalic osteodysplastic primordial dwarfism type II	Seckel syndrome	1	1	PCNT (4)	0.05263	1.00000	1.169e-3	1.876e-3	137
microcephaly with or without short stature	Seckel syndrome	1	1	CEP152 (6)	0.05263	1.00000	1.169e-3	1.876e-3	137
Anorexia	Minor epilepsy	1	1	NPY (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental regression	mucopolysaccharidosis type 3A	1	1	SGSH (2)	0.05263	1.00000	1.169e-3	1.876e-3	
mucopolysaccharidosis type 4B	Spondyloepiphyseal dysplasia	1	1	GLB1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Aortic dissection	multiple self-healing squamous epithelioma	1	1	TGFBR1 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
multiple self-healing squamous epithelioma	Uremia	1	1	TGFBR1 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
MYH-6 related congenital heart defects	Sick sinus syndrome	1	1	MYH6 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
MYPN-related myopathy	Nemaline myopathy	1	1	MYPN (4)	0.05263	1.00000	1.169e-3	1.876e-3	
nance-horan syndrome	Nuclear cataract	1	1	NHS (3)	0.05263	1.00000	1.169e-3	1.876e-3	51
Anorexia	Nasal obstruction	1	1	NPY (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Junctional epidermolysis bullosa	Naxos disease	1	1	JUP (6)	0.05263	1.00000	1.169e-3	1.876e-3	
Nemaline myopathy	nemaline myopathy 10	1	1	LMOD3 (7)	0.05263	1.00000	1.169e-3	1.876e-3	162
Nemaline myopathy	nemaline myopathy 5	1	1	TNNT1 (6)	0.05263	1.00000	1.169e-3	1.876e-3	
Nemaline myopathy	nemaline myopathy 6	1	1	KBTBD13 (7)	0.05263	1.00000	1.169e-3	1.876e-3	162
Nemaline myopathy	nemaline myopathy 7	1	1	CFL2 (7)	0.05263	1.00000	1.169e-3	1.876e-3	162
Nemaline myopathy	nemaline myopathy 8	1	1	KLHL40 (5)	0.05263	1.00000	1.169e-3	1.876e-3	162
Nemaline myopathy	nemaline myopathy 9	1	1	KLHL41 (7)	0.05263	1.00000	1.169e-3	1.876e-3	162
Clinodactyly	SATB2 associated disorder	1	1	SATB2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	197
Clinodactyly	Satb2 associated syndrome	1	1	SATB2 (3)	0.05263	1.00000	1.169e-3	1.876e-3	197
Gross motor development delay	Saul-wilson syndrome	1	1	COG4 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Potassium deficiency	Sebaceous gland neoplasms	1	1	LEF1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Seckel syndrome	seckel syndrome 10	1	1	NSMCE2 (6)	0.05263	1.00000	1.169e-3	1.876e-3	137
Short stature spectrum	Spondyloepiphyseal dysplasia	1	1	ACAN (6)	0.05263	1.00000	1.169e-3	1.876e-3	
Sick sinus syndrome	sick sinus syndrome 2, autosomal dominant	1	1	HCN4 (6)	0.05263	1.00000	1.169e-3	1.876e-3	3
SMAD6-related disease	Thoracic aortic aneurysm	1	1	SMAD6 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Spondyloepiphyseal dysplasia	spondyloepiphyseal dysplasia with congenital joint dislocations	1	1	CHST3 (6)	0.05263	1.00000	1.169e-3	1.876e-3	
Spondyloepiphyseal dysplasia	spondyloepiphyseal dysplasia, kondo-fu type	1	1	MBTPS1 (5)	0.05263	1.00000	1.169e-3	1.876e-3	44
Lipodystrophy	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	1	1	PCYT1A (4)	0.05263	1.00000	1.169e-3	1.876e-3	79
cataract 50 with or without glaucoma	syndromic complex neurodevelopmental disorder	1	0	TRPM3 (1)	0.05263	1.00000	1.169e-3	1.876e-3	122
Henoch schoenlein purpura	Thiopurine immunosuppressant-induced pancreatitis	1	0	HLA-DQB3 (1)	0.05263	1.00000	1.169e-3	1.876e-3	1
Graves ophthalmopathy	Thrombasthenia-thrombocytopenia	1	1	GFI1B (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Clinodactyly	thrombocytopenia-absent radius syndrome	1	1	RBM8A (2)	0.05263	1.00000	1.169e-3	1.876e-3	197
Anorexia	TNF receptor 1-associated periodic fever syndrome	1	1	TNFRSF1A (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital hypoplasia of aortic arch	Tooth disease	1	1	PKHD1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Periportal fibrosis	Tooth disease	1	1	PKHD1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Temperature-sensitive oculocutaneous albinism	Tooth disease	1	1	TYR (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Nemaline myopathy	TPM3-related myopathy	1	1	TPM3 (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Childhood-onset benign chorea with striatal involvement	Tooth disease	1	1	PDE10A (3)	0.05263	1.00000	1.169e-3	1.876e-3	413
childhood-onset nemaline myopathy	Nemaline myopathy	1	0	TNNI1 (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Chopra-amiel-gordon syndrome	syndromic complex neurodevelopmental disorder	1	1	ANKRD17 (5)	0.05263	1.00000	1.169e-3	1.876e-3	122
Chorea	Choreoacanthocytosis	1	1	VPS13A (5)	0.05263	1.00000	1.169e-3	1.876e-3	1
Chromosome 10q deletion syndrome	Developmental regression	1	1	EBF3 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Chromosome xq25 duplication syndrome	Semilobar holoprosencephaly	1	1	STAG2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
CIDEC-related familial partial lipodystrophy	Lipodystrophy	1	1	CIDEC (3)	0.05263	1.00000	1.169e-3	1.876e-3	
16q24.3 microdeletion syndrome	Clinodactyly	1	1	ANKRD11 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Clinodactyly	kbg syndrome	1	1	ANKRD11 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Clinodactyly	coffin-lowry syndrome	1	1	RPS6KA3 (2)	0.05263	1.00000	1.169e-3	1.876e-3	197
COG4-congenital disorder of glycosylation	Gross motor development delay	1	1	COG4 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Cognitive impairment with or without cerebellar ataxia	Developmental regression	1	1	SCN8A (5)	0.05263	1.00000	1.169e-3	1.876e-3	424
Aortic dissection	Congenital aphakia	1	0	FOXE3 (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital central hypothyroidism	Corneal neovascularization	1	1	TRHR (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital corneal opacity	syndromic complex neurodevelopmental disorder	1	1	ZFHX4 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Benign congenital myopathy	Clinodactyly	1	0	DMD (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Bifid nail	Spondyloepiphyseal dysplasia	1	0	OFD1 (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Bleeding esophageal varices	Potassium deficiency	1	0	SST (1)	0.05263	1.00000	1.169e-3	1.876e-3	
Bohring-opitz syndrome	Gross motor development delay	1	1	ASXL1 (6)	0.05263	1.00000	1.169e-3	1.876e-3	
Bronchial disease	Vici syndrome	1	1	EPG5 (5)	0.05263	1.00000	1.169e-3	1.876e-3	3
Bronchial disease	Woolly hair-palmoplantar keratoderma syndrome	1	1	KANK2 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
Dermatopathia pigmentosa reticularis	Junctional epidermolysis bullosa	1	1	KRT14 (6)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental delay with ataxia, hypotonia, and facial dysmorphism	Developmental regression	1	1	EBF3 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Developmental regression	IFIH1-related type 1 interferonopathy	1	1	IFIH1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
dilated cardiomyopathy 1EE	Sick sinus syndrome	1	1	MYH6 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
dilated cardiomyopathy 1KK	Nemaline myopathy	1	1	MYPN (4)	0.05263	1.00000	1.169e-3	1.876e-3	
Disorder of sex development	Potassium deficiency	1	1	RXFP2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	116
Dna2-related mitochondrial dna deletion syndrome	Seckel syndrome	1	1	DNA2 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital generalized hypercontractile muscle stiffness syndrome	Nemaline myopathy	1	1	TPM3 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
congenital myasthenic syndrome 9	Gross motor development delay	1	1	MUSK (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	Junctional epidermolysis bullosa	1	1	ITGA3 (7)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital phimosis	Junctional epidermolysis bullosa	1	1	ITGA3 (7)	0.05263	1.00000	1.169e-3	1.876e-3	
Aortic dissection	Congenital primary aphakia	1	1	FOXE3 (5)	0.05263	1.00000	1.169e-3	1.876e-3	
Congenital primary lymphedema of gordon	Hemangiosarcoma	1	1	VEGFC (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Coralliform cataract	Nuclear cataract	1	1	CRYGD (3)	0.05263	1.00000	1.169e-3	1.876e-3	51
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Corneal neovascularization	1	1	NLRP1 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
Choroidal neovascularization	Corneal neovascularization	1	1	VEGFA (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Carcinogenesis	cowden syndrome 6	1	1	AKT1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
20p12.3 microdeletion syndrome	Uremia	1	1	BMP2 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
ACAN-related short stature spectrum	Spondyloepiphyseal dysplasia	1	1	ACAN (7)	0.05263	1.00000	1.169e-3	1.876e-3	
AFG3L2-related optic atrophy and/or spastic ataxia spectrum	Chorea	1	1	AFG3L2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
AKT2-related familial partial lipodystrophy	Lipodystrophy	1	1	AKT2 (3)	0.05263	1.00000	1.169e-3	1.876e-3	
Amish nemaline myopathy	Nemaline myopathy	1	1	TNNT1 (7)	0.05263	1.00000	1.169e-3	1.876e-3	
Anovulation	Dyslipidemias	1	1	NR5A2 (2)	0.05263	1.00000	1.169e-3	1.876e-3	57
asphyxiating thoracic dystrophy 3	Clinodactyly	1	1	DYNC2H1 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Atrial tachyarrhythmia, infra-hisian cardiac conduction disease	Bronchial disease	1	1	TNNI3K (2)	0.05263	1.00000	1.169e-3	1.876e-3	3
Anorexia	Atypical absence epilepsy	1	1	NPY (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Autoinflammation with arthritis and dyskeratosis	Corneal neovascularization	1	1	NLRP1 (5)	0.05263	1.00000	1.169e-3	1.876e-3	
autosomal recessive osteopetrosis 1	Dyslipidemias	1	1	TCIRG1 (4)	0.05263	1.00000	1.169e-3	1.876e-3	
B3GALT6-congenital disorder of glycosylation	Spondyloepiphyseal dysplasia	1	1	B3GALT6 (2)	0.05263	1.00000	1.169e-3	1.876e-3	44
Barakat syndrome	Carcinogenesis	1	1	GATA3 (2)	0.05263	1.00000	1.169e-3	1.876e-3	
Junctional epidermolysis bullosa	Salivary gland neoplasms	2	2	KRT5 (2), ITGB4 (6)	0.03279	0.11111	1.186e-3	1.903e-3	
Hereditary sensory and autonomic neuropathy	Retinopathy-sensory neuropathy syndrome	1	1	FLVCR1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Hereditary sensory and autonomic neuropathy	Riley-day syndrome	1	1	ELP1 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Marshall syndrome	snowflake vitreoretinal degeneration	1	1	KCNJ13 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Marshall syndrome	Stickler syndrome, type 4	1	1	COL9A1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	308
Hemoglobin high altitude adaptation	Polycythemia	1	1	EGLN1 (4)	0.05000	1.00000	1.234e-3	1.966e-3	
Hemoglobinopathy toms river	Secondary malignant neoplasm	1	1	HBG2 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Hepatic lipase deficiency	Pericarditis	1	1	LIPC (4)	0.05000	1.00000	1.234e-3	1.966e-3	
Blepharoptosis	hereditary peripheral neuropathy	1	1	IGHMBP2 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Hereditary sensory and autonomic neuropathy	hereditary sensory and autonomic neuropathy type 4	1	1	NTRK1 (4)	0.05000	1.00000	1.234e-3	1.966e-3	173
Hereditary sensory and autonomic neuropathy	hereditary sensory and autonomic neuropathy type 6	1	1	DST (7)	0.05000	1.00000	1.234e-3	1.966e-3	
Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy with spastic paraplegia	1	1	CCT5 (5)	0.05000	1.00000	1.234e-3	1.966e-3	173
Burkitt lymphoma	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	1	1	RUNX1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	Early-onset combined immunodeficiency with low ig due to dominant-negative ikaros mutation	1	0	IKZF1 (1)	0.05000	1.00000	1.234e-3	1.966e-3	
EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition	Polycythemia	1	1	EGLN1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
familial meningioma	Periodontal disease	1	1	SMARCE1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
fanconi anemia complementation group g	Mouth disease	1	1	FANCG (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Farber disease	Lipidoses	1	1	ASAH1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Farber disease	Lipoidosis	1	1	ASAH1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
FLVCR1-related retinopathy with or without ataxia	Hereditary sensory and autonomic neuropathy	1	1	FLVCR1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
focal segmental glomerulosclerosis 4, susceptibility to	Hyperparathyroidism	1	1	APOL1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
IRIDA syndrome	Polycythemia	1	1	TMPRSS6 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
isovaleric acidemia	Secondary malignant neoplasm	1	1	IVD (2)	0.05000	1.00000	1.234e-3	1.966e-3	237
Aortic disease	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	1	1	SMAD4 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
lethal occipital encephalocele-skeletal dysplasia syndrome	Mouth disease	1	1	CYP26B1 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	leukemia, acute lymphoblastic, susceptibility to, 3	1	1	PAX5 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	leukemia, acute myeloid, susceptibility to	1	1	FLT3 (2)	0.05000	1.00000	1.234e-3	1.966e-3	45
Lipidoses	Palmoplantar keratoderma and congenital alopecia	1	1	LSS (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Cataract-alopecia-sclerodactyly syndrome	Lipidoses	1	1	LSS (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Carotid intima-media thickness	Lipidoses	1	1	PPARG (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Lipoidosis	Palmoplantar keratoderma and congenital alopecia	1	1	LSS (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Cataract-alopecia-sclerodactyly syndrome	Lipoidosis	1	0	LSS (1)	0.05000	1.00000	1.234e-3	1.966e-3	
Carotid intima-media thickness	Lipoidosis	1	0	PPARG (1)	0.05000	1.00000	1.234e-3	1.966e-3	
Hereditary sensory and autonomic neuropathy	neuropathy, hereditary sensory and autonomic, type 1A	1	1	SPTLC1 (7)	0.05000	1.00000	1.234e-3	1.966e-3	173
Hereditary sensory and autonomic neuropathy	neuropathy, hereditary sensory and autonomic, type 1C	1	1	SPTLC2 (7)	0.05000	1.00000	1.234e-3	1.966e-3	173
Hereditary sensory and autonomic neuropathy	neuropathy, hereditary sensory and autonomic, type 2A	1	1	WNK1 (7)	0.05000	1.00000	1.234e-3	1.966e-3	173
Hereditary sensory and autonomic neuropathy	neuropathy, hereditary sensory, type 1D	1	1	ATL1 (7)	0.05000	1.00000	1.234e-3	1.966e-3	
Hereditary sensory and autonomic neuropathy	neuropathy, hereditary sensory, type 1F	1	1	ATL3 (7)	0.05000	1.00000	1.234e-3	1.966e-3	173
Blepharoptosis	OPA1-related optic atrophy with or without extraocular features	1	1	OPA1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Hyperparathyroidism	Osteolysis, hereditary, of carpal bones with or without nephropathy	1	1	MAFB (2)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	pancytopenia due to IKZF1 mutations	1	1	IKZF1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Papillon-lefevre syndrome	Periodontal disease	1	1	CTSC (6)	0.05000	1.00000	1.234e-3	1.966e-3	
Hereditary sensory and autonomic neuropathy	Paraparesis	1	1	TECPR2 (4)	0.05000	1.00000	1.234e-3	1.966e-3	
Hyperparathyroidism	Parathyroid carcinoma	1	1	CDC73 (8)	0.05000	1.00000	1.234e-3	1.966e-3	
Hyperparathyroidism	Parathyroid neoplasm	1	1	CDC73 (8)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	PAX5-related B lymphopenia and autism spectrum disorder	1	1	PAX5 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Myosin storage myopathy	Pericarditis	1	1	MYH7 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Biventricular noncompaction cardiomyopathy	Pericarditis	1	0	MYH7 (1)	0.05000	1.00000	1.234e-3	1.966e-3	
Carotid intima-media thickness	Periodontal disease	1	1	PPARG (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Angiofollicular ganglionic hyperplasia	Periodontal disease	1	0	IL6 (1)	0.05000	1.00000	1.234e-3	1.966e-3	
Angiolymphoid hyperplasia	Periodontal disease	1	0	IL6 (1)	0.05000	1.00000	1.234e-3	1.966e-3	
Castleman disease	Periodontal disease	1	1	IL6 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Lipidoses	mednik syndrome	1	1	AP1S1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Lipoidosis	mednik syndrome	1	1	AP1S1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Burkitt lymphoma	Merkel cell carcinoma	1	1	MYC (4)	0.05000	1.00000	1.234e-3	1.966e-3	
Carcinoma in situ	Mouth disease	1	1	PTGS2 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Mouth disease	Urinary bladder neck obstruction	1	1	PTGS2 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Mouth disease	Tongue disorder	1	0	ESRRG (1)	0.05000	1.00000	1.234e-3	1.966e-3	
Hyperparathyroidism	multiple endocrine neoplasia type 1	1	1	MEN1 (6)	0.05000	1.00000	1.234e-3	1.966e-3	
Hyperparathyroidism	multiple endocrine neoplasia type 4	1	1	CDKN1B (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Aortic disease	Myhre syndrome	1	1	SMAD4 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Neuropathy	Wilson disease	1	1	ATP7B (5)	0.05000	1.00000	1.234e-3	1.966e-3	
high myopia-sensorineural deafness syndrome	Marshall syndrome	1	1	SLITRK6 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
holocarboxylase synthetase deficiency	Specific language disorder	1	1	HLCS (2)	0.05000	1.00000	1.234e-3	1.966e-3	272
Hyperparathyroidism	hyperparathyroidism 2 with jaw tumors	1	1	CDC73 (8)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	hypoparathyroidism-deafness-renal disease syndrome	1	1	GATA3 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Down syndrome	immunodeficiency 114, folate-responsive	1	1	SLC19A1 (3)	0.05000	1.00000	1.234e-3	1.966e-3	56
Inflammatory demyelinating polyneuropathy	Neuropathy	1	0	CNBD1 (1)	0.05000	1.00000	1.234e-3	1.966e-3	152
inherited glutathione synthetase deficiency	Mouth disease	1	1	GSS (3)	0.05000	1.00000	1.234e-3	1.966e-3	
ASAH1-related sphingolipidosis	Lipidoses	1	1	ASAH1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
ASAH1-related sphingolipidosis	Lipoidosis	1	1	ASAH1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
autosomal agammaglobulinemia	B-lymphoblastic leukemia/lymphoma	1	1	TCF3 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
autosomal agammaglobulinemia	Burkitt lymphoma	1	1	TCF3 (2)	0.05000	1.00000	1.234e-3	1.966e-3	184
autosomal dominant macrothrombocytopenia	Blepharoptosis	1	1	TUBA4A (2)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	Barakat syndrome	1	1	GATA3 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Childhood apraxia of speech	Specific language disorder	1	1	FOXP2 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
ciliary dyskinesia, primary, 44	Pericarditis	1	1	NEK10 (2)	0.05000	1.00000	1.234e-3	1.966e-3	279
Cirrhosis dystonia polycythemia hypermanganesemia syndrome	Polycythemia	1	1	SLC30A10 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	Polycythemia	1	1	SLC30A10 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	Hyperparathyroidism	1	1	ACP5 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	Down syndrome	1	1	MTHFD1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
B-lymphoblastic leukemia/lymphoma	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	1	1	PBX1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Burkitt lymphoma	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	1	1	PBX1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
A4GALT-congenital disorder of glycosylation	Burkitt lymphoma	1	1	A4GALT (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Alstrom syndrome	Down syndrome	1	1	ALMS1 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Alys amyloidosis	Amyloidosis	1	1	LYZ (4)	0.05000	1.00000	1.234e-3	1.966e-3	128
amyotrophic lateral sclerosis type 22	Blepharoptosis	1	1	TUBA4A (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Antecubital pterygium syndrome	Neuropathy	1	1	PSD3 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Deafness and myopia	Marshall syndrome	1	1	SLITRK6 (3)	0.05000	1.00000	1.234e-3	1.966e-3	
Blepharoptosis	developmental delay with variable intellectual impairment and behavioral abnormalities	1	1	TCF20 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
22q11 deletion syndrome	Digeorge syndrome	1	1	FGF8 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Digeorge syndrome	Intermittent explosive disorder	1	1	COMT (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Chromosome 22q11.2 microduplication syndrome	Digeorge syndrome	1	1	TBX1 (5)	0.05000	1.00000	1.234e-3	1.966e-3	
Blepharoptosis	Dominant hereditary optic atrophy	1	0	OPA1 (1)	0.05000	1.00000	1.234e-3	1.966e-3	
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	Lipidoses	1	1	ASNS (2)	0.05000	1.00000	1.234e-3	1.966e-3	
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	Lipoidosis	1	1	ASNS (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Amyloidosis	Congenital plasminogen activator inhibitor deficiency type 1	1	1	SERPINE1 (4)	0.05000	1.00000	1.234e-3	1.966e-3	
Amyloidosis	congenital plasminogen activator inhibitor type 1 deficiency	1	1	SERPINE1 (2)	0.05000	1.00000	1.234e-3	1.966e-3	
Cortical dysplasia-focal epilepsy syndrome	Specific language disorder	1	1	CNTNAP2 (4)	0.05000	1.00000	1.234e-3	1.966e-3	272
Crystal arthropathy	Pseudoxanthoma elasticum	1	1	ENPP1 (2)	0.11111	0.25000	1.298e-3	2.044e-3	207
Cerebellar atrophy with seizures and variable developmental delay	Paroxysmal nonkinesigenic dyskinesia	1	1	KCNMA1 (4)	0.11111	0.25000	1.298e-3	2.044e-3	85
Bundle branch block	Intellectual developmental disorder speech dysmorphic	1	1	SETBP1 (2)	0.11111	0.25000	1.298e-3	2.044e-3	341
Carcinoid tumor	Sapho syndrome	1	1	CDKAL1 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Aprosencephaly	Coach syndrome	1	1	RPGRIP1L (3)	0.11111	0.25000	1.298e-3	2.044e-3	
Auriculocondylar syndrome	Bronchiolitis obliterans	1	1	EDN1 (7)	0.11111	0.25000	1.298e-3	2.044e-3	
Disseminated superficial actinic porokeratosis	Hyper-immunoglobulin d syndrome	1	1	MVK (3)	0.11111	0.25000	1.298e-3	2.044e-3	
Dowling degos disease	Weber-cockayne syndrome	1	1	KRT5 (6)	0.11111	0.25000	1.298e-3	2.044e-3	
complex neurodevelopmental disorder with or without congenital anomalies	Congenital ptosis	1	1	MYH10 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Congenital chloride diarrhea	Congenital diarrhea	1	1	GRWD1 (2)	0.11111	0.25000	1.298e-3	2.044e-3	275
Anti-nmda receptor encephalitis	Littles disease	1	1	IFIH1 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Male breast carcinoma	Male breast neoplasms	1	1	RAD51B (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Aplasia cutis congenita	Galactokinase deficiency	1	1	ITGB4 (3)	0.11111	0.25000	1.298e-3	2.044e-3	
Glycogen phosphorylase kinase deficiency	Ocular albinism	1	1	PHKA2 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Benign neonatal epilepsy	Hemiplegia	1	1	SCN2A (2)	0.11111	0.25000	1.298e-3	2.044e-3	213
Beta-mannosidosis	Post-operative atrial fibrillation	1	1	ADGRV1 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Post-operative atrial fibrillation	Testotoxicosis	1	1	STON1-GTF2A1L (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Coach syndrome	Encephalocele	1	1	CC2D2A (3)	0.11111	0.25000	1.298e-3	2.044e-3	
Endocrine neoplasms	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	1	1	PRICKLE2 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Ewing sarcoma	Extraskeletal ewing sarcoma	1	1	EWSR1 (3)	0.11111	0.25000	1.298e-3	2.044e-3	
Ewing sarcoma	Visceral heterotaxy	1	1	CIROZ (2)	0.11111	0.25000	1.298e-3	2.044e-3	
22q13.3 deletion syndrome	Urinary bladder diseases	1	1	INS (2)	0.11111	0.25000	1.298e-3	2.044e-3	224
Sacral agenesis	Vitamin a deficiency	1	1	BMP4 (2)	0.11111	0.25000	1.298e-3	2.044e-3	27
Respiratory system neoplasm	Waldenstrom macroglobulinemia	1	0	IRF4 (1)	0.11111	0.25000	1.298e-3	2.044e-3	1
Craniofacial ulnar renal syndrome	Wiedemann-steiner syndrome	1	0	CHD7 (1)	0.11111	0.25000	1.298e-3	2.044e-3	
Cerebral cortical atrophy	Paraplegia	1	1	SPG7 (2)	0.11111	0.25000	1.298e-3	2.044e-3	348
Gastrointestinal neoplasms	Miller-dieker syndrome	1	1	HIC1 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
muscular dystrophy, limb-girdle, autosomal dominant	Paresthesia	1	1	CAPN3 (2)	0.11111	0.25000	1.298e-3	2.044e-3	
Disruptive impulse-control and conduct disorder	Myoclonic dystonia	1	1	DRD2 (2)	0.11111	0.25000	1.298e-3	2.044e-3	118
Myoclonic encephalopathy	Tubulinopathy	1	1	TUBA1A (3)	0.11111	0.25000	1.298e-3	2.044e-3	
Neural tube defects, susceptibility to	Sacral agenesis	1	1	TBXT (5)	0.11111	0.25000	1.298e-3	2.044e-3	
Mountain sickness	Tricuspid valve disease	1	0	AEBP2 (1)	0.08333	0.50000	1.298e-3	2.044e-3	
Craniodiaphyseal dysplasia	Saldino-mainzer syndrome	1	1	IFT140 (3)	0.08333	0.50000	1.298e-3	2.044e-3	
Iron deficiency anemia	Iron-refractory iron deficiency anemia	1	1	TMPRSS6 (4)	0.08333	0.50000	1.298e-3	2.044e-3	
Lig4 syndrome	Omenn syndrome	1	1	LIG4 (5)	0.08333	0.50000	1.298e-3	2.044e-3	
immunodeficiency 104	Omenn syndrome	1	1	IL7R (4)	0.08333	0.50000	1.298e-3	2.044e-3	
Sjogren-larsson syndrome	Tongue neoplasms	1	1	KRT14 (2)	0.08333	0.50000	1.298e-3	2.044e-3	270
Brachycephaly	Thyroid hormone resistance	1	1	TRHR (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Genitourinary disease	Ureterolithiasis	1	0	BCAS3 (1)	0.08333	0.50000	1.298e-3	2.044e-3	
Glycoprotein ia deficiency	Iron deficiency anemia	1	0	ITGA2 (1)	0.08333	0.50000	1.298e-3	2.044e-3	
Apraxia	Ophthalmoplegia	1	0	NPC1 (1)	0.08333	0.50000	1.298e-3	2.044e-3	231
Omenn syndrome	Partial adenosine deaminase deficiency	1	1	ADA (3)	0.08333	0.50000	1.298e-3	2.044e-3	
Angelman syndrome	Duplication 15q11-q13 syndrome	1	1	UBE3A (7)	0.08333	0.50000	1.298e-3	2.044e-3	
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	monogenic diabetes	1	1	HNF4A (6)	0.08333	0.50000	1.298e-3	2.044e-3	
Delirium	Tyrosine hydroxylase–deficient dopa-responsive dystonia	1	1	TH (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Headache	Water intoxication	1	1	OXT (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Cornelia de lange syndrome	Wilson-turner syndrome	1	1	HDAC8 (7)	0.08333	0.50000	1.298e-3	2.044e-3	301
Dwarfism	Witteveen-kolk syndrome	1	1	SIN3A (3)	0.08333	0.50000	1.298e-3	2.044e-3	
Acetyl-coa acetyltransferase deficiency	Carbohydrate metabolism disease	1	1	ACAT1 (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Adrenoleukodystrophy	Eye disorder	1	1	SCD (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Amed syndrome	Head and neck cancer	1	1	ALDH2 (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Bilateral generalized polymicrogyria	Laryngeal carcinoma	1	1	RTTN (3)	0.08333	0.50000	1.298e-3	2.044e-3	
Bile duct disease	Porphyria	1	1	FECH (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Brain atrophy	Early onset alzheimers disease with behavioral disturbance	1	0	LRRK2 (1)	0.08333	0.50000	1.298e-3	2.044e-3	
Brittle cornea syndrome	Congenital skin anomaly	1	1	ZNF469 (6)	0.08333	0.50000	1.298e-3	2.044e-3	396
Brittle cornea syndrome	Skin abnormalities	1	1	ZNF469 (5)	0.08333	0.50000	1.298e-3	2.044e-3	396
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Contracture	1	1	PRG4 (6)	0.08333	0.50000	1.298e-3	2.044e-3	28
Congenital mesoblastic nephroma	Myelomonocytic leukemia	1	0	ETV6 (1)	0.08333	0.50000	1.298e-3	2.044e-3	
Contracture	Soft tissue neoplasms	1	0	EPHB1 (1)	0.08333	0.50000	1.298e-3	2.044e-3	
Contracture	Dermatosparaxis ehlers-danlos syndrome	1	1	ADAMTSL2 (2)	0.08333	0.50000	1.298e-3	2.044e-3	28
Cavitary optic disk anomaly	Delirium	1	1	APOE (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Cebalid syndrome	Facial dysmorphism syndrome	1	1	MN1 (6)	0.08333	0.50000	1.298e-3	2.044e-3	
Central nervous system malformation	Partial lipodystrophy	1	1	LMNB2 (2)	0.08333	0.50000	1.298e-3	2.044e-3	79
Childhood-onset spinal muscular atrophy	Saldino-noonan syndrome	1	1	DYNC1H1 (3)	0.08333	0.50000	1.298e-3	2.044e-3	
Beckwith-wiedemann syndrome	Chorioretinal atrophy	1	0	- (1)	0.08333	0.50000	1.298e-3	2.044e-3	323
Combined immunodeficiency, x-linked	Omenn syndrome	1	1	IL2RG (5)	0.08333	0.50000	1.298e-3	2.044e-3	
Congenital dyserythropoietic anemia	Familial mediterranean fever	1	0	ABCB1 (1)	0.08333	0.50000	1.298e-3	2.044e-3	120
autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Hypertensive heart disease	1	1	UMOD (2)	0.08333	0.50000	1.298e-3	2.044e-3	
Bartsocas-papas syndrome	Congenital skin anomaly	1	1	CHUK (5)	0.08333	0.50000	1.298e-3	2.044e-3	
Apraxia	Developmental delay with variable intellectual disability	1	1	JARID2 (5)	0.08333	0.50000	1.298e-3	2.044e-3	
Diaphragm disease	Leiomyoma	1	1	WNT5B (2)	0.08333	0.50000	1.298e-3	2.044e-3	91
Dubowitz syndrome	Omenn syndrome	1	1	LIG4 (3)	0.08333	0.50000	1.298e-3	2.044e-3	
Dandy-walker syndrome	developmental delay with short stature, dysmorphic facial features, and sparse hair	1	1	DPH1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Catecholaminergic polymorphic ventricular tachycardia	dilated cardiomyopathy 1BB	1	1	DSG2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	3
Catecholaminergic polymorphic ventricular tachycardia	dilated cardiomyopathy 1JJ	1	1	LAMA4 (2)	0.04762	1.00000	1.299e-3	2.044e-3	3
Cryptorchidism	Disorder of sex development	1	1	RXFP2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Distal anoctaminopathy	Visual disorder	1	1	ANO5 (2)	0.04762	1.00000	1.299e-3	2.044e-3	191
Congenital plasminogen activator inhibitor deficiency type 1	Retinopathy of prematurity	1	1	SERPINE1 (4)	0.04762	1.00000	1.299e-3	2.044e-3	
congenital plasminogen activator inhibitor type 1 deficiency	Retinopathy of prematurity	1	1	SERPINE1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Catecholaminergic polymorphic ventricular tachycardia	Congenital-onset steinert myotonic dystrophy	1	1	DMPK (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Antiphospholipid syndrome	Corpus callosum agenesis with facial anomalies and cerebellar ataxia	1	1	FRMD4A (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Congenital diaphragmatic hernia	Craniofacial deafness hand syndrome	1	1	PAX3 (6)	0.04762	1.00000	1.299e-3	2.044e-3	
craniosynostosis 6	Dandy-walker syndrome	1	1	ZIC1 (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Congenital diaphragmatic hernia	Cryptophthalmia	1	1	FREM2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Cryptophthalmia	Fraser syndrome	1	1	FREM2 (6)	0.04762	1.00000	1.299e-3	2.044e-3	
16q24.3 microdeletion syndrome	Cryptorchidism	1	1	ANKRD11 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Congenital diaphragmatic hernia	Cryptotria	1	0	FREM2 (1)	0.04762	1.00000	1.299e-3	2.044e-3	
Cryptotria	Fraser syndrome	1	1	FREM2 (6)	0.04762	1.00000	1.299e-3	2.044e-3	
12p12.1 microdeletion syndrome	Hoarding disorder	1	1	SOX5 (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Acrocapitofemoral dysplasia	Retinopathy of prematurity	1	1	IHH (2)	0.04762	1.00000	1.299e-3	2.044e-3	189
acute myeloid leukemia	Hoarding disorder	1	1	CEBPA (2)	0.04762	1.00000	1.299e-3	2.044e-3	279
Acys amyloidosis	Oral submucous fibrosis	1	1	CST3 (4)	0.04762	1.00000	1.299e-3	2.044e-3	
Adult polyglucosan body disease	Cutis laxa	1	1	GBE1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
AIPL1-related retinopathy	Fraser syndrome	1	1	AIPL1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Alkuraya-kucinskas syndrome	Dandy-walker syndrome	1	1	BLTP1 (3)	0.04762	1.00000	1.299e-3	2.044e-3	
anterior segment dysgenesis 7	Visual disorder	1	1	PXDN (2)	0.04762	1.00000	1.299e-3	2.044e-3	
aortic valve disease 3	Congenital diaphragmatic hernia	1	1	ROBO4 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Biotinidase deficiency	Cryptorchidism	1	1	BTD (7)	0.04762	1.00000	1.299e-3	2.044e-3	111
bleeding disorder, platelet-type, 22	Platelet-type bleeding disorder	1	1	EPHB2 (5)	0.04762	1.00000	1.299e-3	2.044e-3	67
Bnar syndrome	Congenital diaphragmatic hernia	1	1	FREM1 (4)	0.04762	1.00000	1.299e-3	2.044e-3	
Bulimia	Intermittent explosive disorder	1	0	COMT (1)	0.04762	1.00000	1.299e-3	2.044e-3	181
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome	Visual disorder	1	1	ANO5 (2)	0.04762	1.00000	1.299e-3	2.044e-3	191
Atypical fanconi syndrome	Intrahepatic cholestasis of pregnancy	1	1	HNF4A (3)	0.04762	1.00000	1.299e-3	2.044e-3	
autosomal recessive cutis laxa type 2B	Cutis laxa	1	1	PYCR1 (7)	0.04762	1.00000	1.299e-3	2.044e-3	94
autosomal recessive cutis laxa type 2C	Cutis laxa	1	1	ATP6V1E1 (7)	0.04762	1.00000	1.299e-3	2.044e-3	94
Bartter disease type 5	Dandy-walker syndrome	1	1	MAGED2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
CBL-related disorder	Cryptorchidism	1	1	CBL (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Childhood apraxia of speech	Hoarding disorder	1	1	FOXP2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Chromosome 15q24 deletion syndrome	Congenital diaphragmatic hernia	1	1	SIN3A (3)	0.04762	1.00000	1.299e-3	2.044e-3	362
Chylothorax	Situs inversus	1	0	PKD1L1 (1)	0.04762	1.00000	1.299e-3	2.044e-3	54
ciliary dyskinesia, primary, 40	Situs inversus	1	1	DNAH9 (3)	0.04762	1.00000	1.299e-3	2.044e-3	54
ciliary dyskinesia, primary, 44	Hoarding disorder	1	1	NEK10 (2)	0.04762	1.00000	1.299e-3	2.044e-3	279
Codas syndrome	Congenital diaphragmatic hernia	1	1	LONP1 (6)	0.04762	1.00000	1.299e-3	2.044e-3	
Common atrium	Congenital diaphragmatic hernia	1	0	CDK8 (1)	0.04762	1.00000	1.299e-3	2.044e-3	
Congenital cerebral hernia	Dandy-walker syndrome	1	0	PIBF1 (1)	0.04762	1.00000	1.299e-3	2.044e-3	8
Dandy-walker syndrome	Turricephaly	1	1	ZIC1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Visual disorder	Vitamin e deficiency	1	1	TTPA (4)	0.04762	1.00000	1.299e-3	2.044e-3	
Dandy-walker syndrome	X-linked Opitz G/BBB syndrome	1	1	MID1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Dandy-walker syndrome	X-linked opitz syndrome	1	1	MID1 (4)	0.04762	1.00000	1.299e-3	2.044e-3	
Congenital diaphragmatic hernia	X-linked osteoporosis	1	1	PLS3 (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Hypertensive nephropathy	Sebastian syndrome	1	1	MYH9 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Dandy-walker syndrome	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	1	1	SETD2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Dandy-walker syndrome	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	1	1	SETD2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Congenital diaphragmatic hernia	SIN3A-related intellectual disability syndrome	1	1	SIN3A (3)	0.04762	1.00000	1.299e-3	2.044e-3	362
Platelet-type bleeding disorder	Sleep deprivation	1	1	PTGS1 (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	Thrombasthenia-thrombocytopenia	1	1	GFI1B (6)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	Thrombocytopenia with platelet secretion defect	1	1	SLFN14 (7)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	TPM4-related platelet disorder	1	1	TPM4 (5)	0.04762	1.00000	1.299e-3	2.044e-3	67
Dandy-walker syndrome	joubert syndrome 21	1	1	CSPP1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	8
Dandy-walker syndrome	joubert syndrome 30	1	1	ARMC9 (2)	0.04762	1.00000	1.299e-3	2.044e-3	8
Fraser syndrome	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	1	1	MYO18B (2)	0.04762	1.00000	1.299e-3	2.044e-3	
leukemia, acute myeloid, susceptibility to	Splenomegaly	1	1	FLT3 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	Oral submucous fibrosis	1	1	CST3 (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Hypertensive nephropathy	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	1	1	MYH9 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
MECOM-associated syndrome	Splenomegaly	1	1	MECOM (2)	0.04762	1.00000	1.299e-3	2.044e-3	
nephronophthisis 16	Situs inversus	1	1	ANKS6 (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	platelet-type bleeding disorder 11	1	1	GP6 (6)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	platelet-type bleeding disorder 12	1	1	PTGS1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	platelet-type bleeding disorder 15	1	1	ACTN1 (6)	0.04762	1.00000	1.299e-3	2.044e-3	67
Platelet-type bleeding disorder	platelet-type bleeding disorder 17	1	1	GFI1B (4)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	platelet-type bleeding disorder 18	1	1	RASGRP2 (7)	0.04762	1.00000	1.299e-3	2.044e-3	67
Platelet-type bleeding disorder	platelet-type bleeding disorder 20	1	1	SLFN14 (6)	0.04762	1.00000	1.299e-3	2.044e-3	
Platelet-type bleeding disorder	platelet-type bleeding disorder 8	1	1	P2RY12 (6)	0.04762	1.00000	1.299e-3	2.044e-3	
primary ciliary dyskinesia 17	Situs inversus	1	1	DNAAF19 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Fraser syndrome	primary ciliary dyskinesia 20	1	1	ODAD1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	90
primary ciliary dyskinesia 3	Situs inversus	1	1	DNAH5 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
primary ciliary dyskinesia 7	Situs inversus	1	1	DNAH11 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Hypertensive nephropathy	PRKAG2-related cardiomyopathy	1	1	PRKAG2 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Intrahepatic cholestasis of pregnancy	progressive familial intrahepatic cholestasis type 3	1	1	ABCB4 (4)	0.04762	1.00000	1.299e-3	2.044e-3	135
Prolidase deficiency	Splenomegaly	1	1	PEPD (3)	0.04762	1.00000	1.299e-3	2.044e-3	
Dandy-walker syndrome	Right aortic arch	1	0	BLTP1 (1)	0.04762	1.00000	1.299e-3	2.044e-3	
Hoarding disorder	lamb-shaffer syndrome	1	1	SOX5 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
immunodeficiency, common variable, 12	Upper respiratory tract disorder	1	1	NFKB1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	103
immunodeficiency, common variable, 2	Upper respiratory tract disorder	1	1	TNFRSF13B (2)	0.04762	1.00000	1.299e-3	2.044e-3	
inherited blood coagulation disorder	Platelet-type bleeding disorder	1	1	APOLD1 (4)	0.04762	1.00000	1.299e-3	2.044e-3	67
Cutis laxa	inherited pseudoxanthoma elasticum	1	1	ABCC6 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Intellectual developmental disorder dysmorphic macrocephaly	Upper respiratory tract disorder	1	1	ZBTB7A (2)	0.04762	1.00000	1.299e-3	2.044e-3	103
Congenital diaphragmatic hernia	Intellectual developmental disorder hypotonia behavioral	1	1	CDK8 (4)	0.04762	1.00000	1.299e-3	2.044e-3	
Cutis laxa	Ehlers-Danlos syndrome, spondylocheirodysplastic type	1	1	SLC39A13 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
focal segmental glomerulosclerosis 4, susceptibility to	Hypertensive nephropathy	1	1	APOL1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	313
Fraser syndrome	fraser syndrome 3	1	1	GRIP1 (6)	0.04762	1.00000	1.299e-3	2.044e-3	90
FZD4-related exudative vitreoretinopathy	Retinopathy of prematurity	1	1	FZD4 (3)	0.04762	1.00000	1.299e-3	2.044e-3	189
Fraser syndrome	Genetic infertility	1	1	SPATA22 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Cutis laxa	glycogen storage disease due to glycogen branching enzyme deficiency	1	1	GBE1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Glycoprotein vi deficiency	Platelet-type bleeding disorder	1	1	GP6 (7)	0.04762	1.00000	1.299e-3	2.044e-3	
gnathodiaphyseal dysplasia	Visual disorder	1	1	ANO5 (2)	0.04762	1.00000	1.299e-3	2.044e-3	191
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Splenomegaly	1	1	STAT5B (2)	0.04762	1.00000	1.299e-3	2.044e-3	
growth hormone insensitivity with immune dysregulation 1, autosomal recessive	Splenomegaly	1	1	STAT5B (2)	0.04762	1.00000	1.299e-3	2.044e-3	
nizon-isidor syndrome	Platelet-type bleeding disorder	1	1	MED12L (2)	0.04762	1.00000	1.299e-3	2.044e-3	67
NOTCH1-related AOS spectrum disorder	Splenomegaly	1	1	NOTCH1 (2)	0.04762	1.00000	1.299e-3	2.044e-3	
Parkinson-dementia syndrome	Splenomegaly	1	1	MAPT (2)	0.04762	1.00000	1.299e-3	2.044e-3	17
Eye abnormalities	Ocular hypertension	2	1	CRPPA (3), SH3PXD2B (1)	0.03077	0.11765	1.309e-3	2.059e-3	
Anhedonia	Esophageal atresia	2	0	ATP1A3 (1), CACNA1C (1)	0.03509	0.07692	1.318e-3	2.074e-3	196
Cardiac arrest	Coronary aneurysm	2	2	KCNN2 (2), NEBL (2)	0.03509	0.07692	1.318e-3	2.074e-3	
Congenital bone marrow failure syndrome	Shwachman-diamond syndrome	1	1	DNAJC21 (6)	0.10000	0.33333	1.363e-3	2.129e-3	319
Desbuquois dysplasia	Graft versus host disease	1	1	XYLT1 (4)	0.10000	0.33333	1.363e-3	2.129e-3	
14q11.2 microduplication syndrome	Dextrocardia	1	1	SUPT16H (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Acne inversa	Hereditary hemorrhagic telangiectasia	1	1	PSEN1 (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Caudal regression syndrome	Congenital omphalocele	1	0	PCSK5 (1)	0.10000	0.33333	1.363e-3	2.129e-3	109
Cholestasis	Testicular neoplasms	1	1	ERCC1 (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Chudley-mccullough syndrome	Hereditary elliptocytosis	1	1	SPTB (4)	0.10000	0.33333	1.363e-3	2.129e-3	271
Ataxia with vitamin e deficiency	Binge eating disorder	1	1	APOB (3)	0.10000	0.33333	1.363e-3	2.129e-3	
Binge eating disorder	Hypobetalipoproteinemia	1	1	APOB (4)	0.10000	0.33333	1.363e-3	2.129e-3	201
Bladder disease	Epilepsy with myoclonic atonic seizures	1	1	SLC6A1 (3)	0.10000	0.33333	1.363e-3	2.129e-3	99
Bladder disease	Extravasation of diagnostic and therapeutic materials	1	1	HRH1 (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Brown tendon sheath syndrome	Torsion dystonia	1	1	TUBB4A (3)	0.10000	0.33333	1.363e-3	2.129e-3	
Becker muscular dystrophy	Leiomyosarcoma	1	1	DMD (5)	0.10000	0.33333	1.363e-3	2.129e-3	212
Emery-dreifuss muscular dystrophy	Estrogen resistance	1	1	ESR1 (5)	0.10000	0.33333	1.363e-3	2.129e-3	
Hepatic veno occlusive disease	Pseudo-torch syndrome	1	1	OCLN (6)	0.10000	0.33333	1.363e-3	2.129e-3	
Leiomyosarcoma	Pseudo-torch syndrome	1	1	USP18 (6)	0.10000	0.33333	1.363e-3	2.129e-3	212
Anuria	Renal hypertension	1	1	AGT (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Focal cortical dysplasia	Intellectual developmental disorder speech autism dysmorphic	1	0	TBR1 (1)	0.10000	0.33333	1.363e-3	2.129e-3	
Hypohidrotic ectodermal dysplasia	Unverricht-lundborg syndrome	1	1	CSTB (6)	0.10000	0.33333	1.363e-3	2.129e-3	
Hereditary elliptocytosis	Xerocytosis	1	1	SLC4A1 (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Rhegmatogenous retinal detachment	Synovial sarcoma	1	1	SS18 (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Follicular thyroid cancer	Ovarian diseases	1	1	CGA (2)	0.10000	0.33333	1.363e-3	2.129e-3	
Focal cortical dysplasia	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	1	1	MTOR (4)	0.10000	0.33333	1.363e-3	2.129e-3	
Binge eating disorder	Imerslund-grasbeck syndrome	1	1	CUBN (6)	0.10000	0.33333	1.363e-3	2.129e-3	
Extravasation of diagnostic and therapeutic materials	Imerslund-grasbeck syndrome	1	1	AMN (6)	0.10000	0.33333	1.363e-3	2.129e-3	
Griscelli syndrome	Hereditary elliptocytosis	1	1	MYO5A (7)	0.10000	0.33333	1.363e-3	2.129e-3	
hearing loss, autosomal recessive	Pericardium disorder	1	1	PTPRQ (2)	0.10000	0.33333	1.363e-3	2.129e-3	279
Hepatitis c induced liver cirrhosis	Pemphigus vulgaris	1	0	HLA-DRA (1)	0.10000	0.33333	1.363e-3	2.129e-3	1
Hereditary elliptocytosis	Hereditary xerocytosis	1	1	SLC4A1 (3)	0.10000	0.33333	1.363e-3	2.129e-3	
Gingivitis	Graft-versus-host disease	1	1	TNFRSF8 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Cushing syndrome	Glucocorticoid receptor deficiency/resistance	1	1	NR3C1 (6)	0.04545	1.00000	1.364e-3	2.129e-3	
Graft-versus-host disease	Granulomatous inflammatory arthritis-dermatitis-uveitis, familial	1	0	NOD2 (1)	0.04545	1.00000	1.364e-3	2.129e-3	
Beta thalassemia	hemochromatosis type 2B	1	1	HAMP (3)	0.04545	1.00000	1.364e-3	2.129e-3	148
Beta thalassemia	hemochromatosis type 3	1	1	TFR2 (3)	0.04545	1.00000	1.364e-3	2.129e-3	148
Epidermolysis bullosa	hereditary sensory and autonomic neuropathy type 6	1	1	DST (7)	0.04545	1.00000	1.364e-3	2.129e-3	
Crest syndrome	TTC8-related ciliopathy	1	1	TTC8 (2)	0.04545	1.00000	1.364e-3	2.129e-3	22
Epidermolysis bullosa	Ulnar-fibular ray defect and brachydactyly	1	0	RP1L1 (1)	0.04545	1.00000	1.364e-3	2.129e-3	
Ataxia	Urocanase deficiency	1	1	UROC1 (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Ataxia	Urocanate hydratase deficiency	1	1	UROC1 (5)	0.04545	1.00000	1.364e-3	2.129e-3	
Ataxia	urocanic aciduria	1	1	UROC1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Cushing syndrome	X-linked non progressive cerebellar ataxia	1	1	ATP2B3 (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Graft-versus-host disease	Yao syndrome	1	1	NOD2 (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Bladder exstrophy	Yellow nail syndrome	1	1	CELSR1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Congenital anomalies of kidney and urinary tract	zttk syndrome	1	1	SON (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Postaxial polydactyly	Zunich neuroectodermal syndrome	1	1	PIGL (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Brachydactyly	Intellectual developmental disorder with retinitis pigmentosa	1	1	SCAPER (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Hemorrhagic disease	Intracranial germ cell tumor	1	0	BAK1 (1)	0.04545	1.00000	1.364e-3	2.129e-3	
Brachydactyly	leber congenital amaurosis 15	1	1	TULP1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Hemorrhagic disease	macrothrombocytopenia, isolated, 1, autosomal dominant	1	1	TUBB1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysis bullosa	1	1	PLEC (8)	0.04545	1.00000	1.364e-3	2.129e-3	229
Cushing syndrome	familial hyperaldosteronism type III	1	1	KCNJ5 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
free sialic acid storage disease	Intracerebral hemorrhage	1	1	SLC17A5 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Epidermolysis bullosa	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	1	1	PLEC (8)	0.04545	1.00000	1.364e-3	2.129e-3	229
Beta thalassemia	Postaxial acrofacial dysostosis	1	1	DHODH (5)	0.04545	1.00000	1.364e-3	2.129e-3	
primary ciliary dyskinesia 13	Situs ambiguus	1	1	DNAAF1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	54
primary ciliary dyskinesia 14	Situs ambiguus	1	1	CCDC39 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
primary ciliary dyskinesia 15	Situs ambiguus	1	1	CCDC40 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
primary ciliary dyskinesia 19	Situs ambiguus	1	1	DNAAF11 (2)	0.04545	1.00000	1.364e-3	2.129e-3	54
primary ciliary dyskinesia 26	Situs ambiguus	1	1	CFAP298 (2)	0.04545	1.00000	1.364e-3	2.129e-3	54
primary ciliary dyskinesia 3	Situs ambiguus	1	1	DNAH5 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
primary ciliary dyskinesia 35	Situs ambiguus	1	1	ODAD4 (2)	0.04545	1.00000	1.364e-3	2.129e-3	54
Graft-versus-host disease	Primary immunodeficiency with defective natural killer cell cytotoxicity	1	1	FCGR3A (4)	0.04545	1.00000	1.364e-3	2.129e-3	
Brachydactyly	Proximal symphalangism	1	1	NOG (5)	0.04545	1.00000	1.364e-3	2.129e-3	
Right isomerism	Situs ambiguus	1	1	GDF1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Epidermolysis bullosa	mucopolysaccharidosis type 2	1	1	IDS (2)	0.04545	1.00000	1.364e-3	2.129e-3	229
Epidermolysis bullosa	Nephropathy with pretibial epidermolysis bullosa and deafness	1	1	CD151 (5)	0.04545	1.00000	1.364e-3	2.129e-3	
Epidermolysis bullosa	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	1	1	CD151 (5)	0.04545	1.00000	1.364e-3	2.129e-3	
Epidermolysis bullosa	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	1	1	CD151 (4)	0.04545	1.00000	1.364e-3	2.129e-3	
Brachydactyly	Hypertension and brachydactyly syndrome	1	1	PDE3A (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Graft-versus-host disease	inflammatory bowel disease 25	1	1	IL10RB (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Brachydactyly	intellectual developmental disorder and retinitis pigmentosa; IDDRP	1	1	SCAPER (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Beta thalassemia	Intellectual developmental disorder hemoglobin persistence	1	1	BCL11A (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Crest syndrome	spinocerebellar ataxia, autosomal recessive 25	1	1	ATG5 (2)	0.04545	1.00000	1.364e-3	2.129e-3	22
Cushing syndrome	Steroid 11-beta-monooxygenase deficiency	1	1	CYP11B1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Beta thalassemia	TFRC-related combined immunodeficiency	1	1	TFRC (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Hemorrhagic disease	TPM4-related platelet disorder	1	1	TPM4 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Ataxia	Niemann-Pick disease, type C1	1	1	NPC1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Brachydactyly	NOG-related symphalangism spectrum disorder	1	1	NOG (6)	0.04545	1.00000	1.364e-3	2.129e-3	
Epidermolysis bullosa	occult macular dystrophy	1	1	RP1L1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Cushing syndrome	Oropharyngeal dysphagia	1	0	ATP2B3 (1)	0.04545	1.00000	1.364e-3	2.129e-3	
Ataxia	Parkinson-dementia syndrome	1	1	MAPT (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Atrial myxoma	Cushing syndrome	1	1	PRKAR1A (5)	0.04545	1.00000	1.364e-3	2.129e-3	
autosomal systemic lupus erythematosus type 16	Crest syndrome	1	1	DNASE1L3 (2)	0.04545	1.00000	1.364e-3	2.129e-3	22
BBS10-related ciliopathy	Postaxial polydactyly	1	1	BBS10 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
developmental delay with short stature, dysmorphic facial features, and sparse hair	Intracerebral hemorrhage	1	1	DPH1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Crest syndrome	Disabling pansclerotic morphea of childhood	1	1	STAT4 (4)	0.04545	1.00000	1.364e-3	2.129e-3	
Beta thalassemia	Conn syndrome	1	1	CACNA1H (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Conn syndrome	Cushing syndrome	1	0	CACNA1H (1)	0.04545	1.00000	1.364e-3	2.129e-3	
Chylothorax	Situs ambiguus	1	0	PKD1L1 (1)	0.04545	1.00000	1.364e-3	2.129e-3	54
ciliary dyskinesia, primary, 38	Situs ambiguus	1	1	CFAP300 (2)	0.04545	1.00000	1.364e-3	2.129e-3	54
ciliary dyskinesia, primary, 40	Situs ambiguus	1	1	DNAH9 (2)	0.04545	1.00000	1.364e-3	2.129e-3	54
Congenital anomalies of kidney and urinary tract	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	1	1	PBX1 (5)	0.04545	1.00000	1.364e-3	2.129e-3	
Bmp4-related ocular growth disorder	Congenital anomalies of kidney and urinary tract	1	1	BMP4 (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Congenital anomalies of kidney and urinary tract	Yuksel-vogel-bauer syndrome	1	1	DLG5 (4)	0.04545	1.00000	1.364e-3	2.129e-3	
Congenital anomalies of kidney and urinary tract	Zhu-tokita-takenouchi-kim syndrome	1	1	SON (7)	0.04545	1.00000	1.364e-3	2.129e-3	
Congenital anomalies of kidney and urinary tract	congenital anomaly of kidney and urinary tract	1	1	CHD1L (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Bilateral frontoparietal polymicrogyria	Intracerebral hemorrhage	1	1	ADGRG1 (5)	0.04545	1.00000	1.364e-3	2.129e-3	
Acro-dermo-ungual-lacrimal-tooth syndrome	Bladder exstrophy	1	1	TP63 (2)	0.04545	1.00000	1.364e-3	2.129e-3	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Bladder exstrophy	1	1	TP63 (5)	0.04545	1.00000	1.364e-3	2.129e-3	30
Bladder exstrophy	Limb-mammary syndrome	1	1	TP63 (5)	0.04545	1.00000	1.364e-3	2.129e-3	30
Bladder exstrophy	Rudiger syndrome	1	1	TP63 (2)	0.04545	1.00000	1.364e-3	2.129e-3	30
Blau syndrome	Graft-versus-host disease	1	1	NOD2 (7)	0.04545	1.00000	1.364e-3	2.129e-3	
Brachydactyly	Brachydactyly with hypertension	1	1	PDE3A (5)	0.04545	1.00000	1.364e-3	2.129e-3	
2q37 microdeletion syndrome	Brachydactyly	1	1	HDAC4 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Acrocapitofemoral dysplasia	Brachydactyly	1	1	IHH (6)	0.04545	1.00000	1.364e-3	2.129e-3	
Angel-shaped phalangoepiphyseal dysplasia	Brachydactyly	1	1	GDF5 (7)	0.04545	1.00000	1.364e-3	2.129e-3	
Carney complex, type 1	Cushing syndrome	1	1	PRKAR1A (3)	0.04545	1.00000	1.364e-3	2.129e-3	
Ataxia	Cataplexy	1	1	NPC1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	
Charcot-Marie-tooth disease, axonal, type 2DD	Cushing syndrome	1	1	ATP1A1 (2)	0.04545	1.00000	1.364e-3	2.129e-3	296
Atypical femoral fracture	Skeletal dysplasia	2	2	CHST3 (3), GALNS (2)	0.03390	0.08696	1.377e-3	2.150e-3	
Ataxia, spastic, autosomal dominant	Presynaptic congenital myasthenic syndrome	1	1	VAMP1 (4)	0.07692	0.50000	1.428e-3	2.207e-3	5
Central precocious puberty	Temple syndrome	1	1	DLK1 (2)	0.07692	0.50000	1.428e-3	2.207e-3	186
Anhydramnios	Cerebellar malformation	1	0	TMEM67 (1)	0.07692	0.50000	1.428e-3	2.207e-3	
Chorioretinal atrophy	Silver-russell syndrome	1	0	- (1)	0.07692	0.50000	1.428e-3	2.207e-3	323
Congenital lamellar cataract	Lamellar cataract	1	1	HSF4 (3)	0.07692	0.50000	1.428e-3	2.207e-3	51
Congenital pulmonary artery atresia	Thromboangiitis obliterans	1	0	HLA-DRB1 (1)	0.07692	0.50000	1.428e-3	2.207e-3	254
Arthrogryposis	De sanctis-cacchione syndrome	1	1	ERCC6 (4)	0.07692	0.50000	1.428e-3	2.207e-3	
Diffuse mesangial sclerosis	Hematuria	1	1	COL4A4 (5)	0.07692	0.50000	1.428e-3	2.207e-3	91
Andersen-tawil syndrome	Short qt syndrome	1	1	KCNJ2 (6)	0.07692	0.50000	1.428e-3	2.207e-3	
Angiocentric glioma	Demyelinating diseases	1	1	QKI (3)	0.07692	0.50000	1.428e-3	2.207e-3	
Cochlear diseases	Retinitis pigmentosa-deafness syndrome	1	1	PCDH15 (2)	0.07692	0.50000	1.428e-3	2.207e-3	
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Hyperphosphatasia with intellectual disability syndrome	1	1	PIGL (3)	0.07692	0.50000	1.428e-3	2.207e-3	
Colonic polyps	Macrothrombocytopenia	1	1	TRPM7 (4)	0.07692	0.50000	1.428e-3	2.207e-3	
Congenital cataract facial dysmorphism neuropathy syndrome	Posterior subcapsular cataract	1	0	GJA3 (1)	0.07692	0.50000	1.428e-3	2.207e-3	51
Bombay phenotype	Vitamin b12 deficiency	1	1	FUT2 (3)	0.07692	0.50000	1.428e-3	2.207e-3	100
Macrothrombocytopenia	Parkinson-dementia complex of guam	1	1	TRPM7 (3)	0.07692	0.50000	1.428e-3	2.207e-3	
Congenital short bowel syndrome	Post-operative acute kidney injury	1	1	CLMP (4)	0.07692	0.50000	1.428e-3	2.207e-3	
Macrothrombocytopenia	macrothrombocytopenia, isolated	1	1	TRPM7 (4)	0.07692	0.50000	1.428e-3	2.207e-3	
Retinitis pigmentosa-deafness syndrome	Usher syndrome type 1	1	1	MYO7A (2)	0.07692	0.50000	1.428e-3	2.207e-3	31
Retinitis pigmentosa-deafness syndrome	Usher syndrome type 2	1	1	USH2A (2)	0.07692	0.50000	1.428e-3	2.207e-3	
Cushing's disease	Ventricular tachycardia	1	1	GNAI2 (2)	0.07692	0.50000	1.428e-3	2.207e-3	
Hypertrichosis	Ventricular tachycardia	1	1	ABCA5 (3)	0.07692	0.50000	1.428e-3	2.207e-3	
Congenital fiber type disproportion myopathy	X-linked myotubular myopathy	1	1	MTM1 (4)	0.07692	0.50000	1.428e-3	2.207e-3	
Cushing's disease	Familial ventricular tachycardia	1	1	GNAI2 (3)	0.07692	0.50000	1.428e-3	2.207e-3	
Familial ventricular tachycardia	Hypertrichosis	1	1	ABCA5 (3)	0.07692	0.50000	1.428e-3	2.207e-3	
Diastolic heart failure	Sarcopenia	1	0	FTO (1)	0.07692	0.50000	1.428e-3	2.207e-3	
Silver-russell syndrome	Temple syndrome	1	1	DLK1 (2)	0.07692	0.50000	1.428e-3	2.207e-3	
Congenital adrenal hyperplasia	Toe syndactyly-telecanthus-anogenital and renal malformations syndrome	1	0	STAR (1)	0.07692	0.50000	1.428e-3	2.207e-3	
SEC61A1 deficiency	Severe congenital neutropenia	1	1	SEC61A1 (4)	0.04348	1.00000	1.429e-3	2.207e-3	
Sialolithiasis	Vesiculobullous skin disease	1	0	PRKN (1)	0.04348	1.00000	1.429e-3	2.207e-3	
intellectual disability-sparse hair-brachydactyly syndrome	Sialolithiasis	1	1	SMARCA2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Sialolithiasis	TRAF3 haploinsufficiency	1	1	TRAF3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	357
Cerebral arteriovenous malformations	sorsby fundus dystrophy	1	1	TIMP3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Spontaneous coronary artery dissection	Venous thrombosis	1	1	F3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	36
Dysarthria	Striatal neurodegeneration	1	1	PDE8B (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Iron metabolism disorder	TFRC-related combined immunodeficiency	1	1	TFRC (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	TOR1AIP1-related multisystem disorder	1	1	TOR1AIP1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	TOR1AIP1-related myopathy	1	1	TOR1AIP1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Sialolithiasis	treacher collins syndrome 2	1	1	POLR1D (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Dysarthria	Troyer syndrome	1	1	SPART (4)	0.04348	1.00000	1.429e-3	2.207e-3	241
Erythematosquamous dermatosis	Tyrosine kinase 2 deficiency	1	1	TYK2 (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Polymyositis	vitamin D-dependent rickets, type 1A	1	1	CYP27B1 (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Sialolithiasis	Wolcott-rallison syndrome	1	1	EIF2AK3 (5)	0.04348	1.00000	1.429e-3	2.207e-3	357
Severe congenital neutropenia	X-linked severe congenital neutropenia	1	1	WAS (6)	0.04348	1.00000	1.429e-3	2.207e-3	
Severe congenital neutropenia	X-linked thrombocytopenia	1	1	WAS (4)	0.04348	1.00000	1.429e-3	2.207e-3	
Dysarthria	xeroderma pigmentosum group G	1	1	ERCC5 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
periventricular nodular heterotopia 7	Syndactyly	1	1	NEDD4L (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Keratitis	peutz-jeghers syndrome	1	1	STK11 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Gastritis	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	1	1	ARPC1B (2)	0.04348	1.00000	1.429e-3	2.207e-3	1
poirier-bienvenu neurodevelopmental syndrome	Syndactyly	1	1	CSNK2B (2)	0.04348	1.00000	1.429e-3	2.207e-3	
FZD4-related exudative vitreoretinopathy	Syndactyly	1	1	FZD4 (3)	0.04348	1.00000	1.429e-3	2.207e-3	189
Gingivitis	Nasopharyngeal carcinoma	1	1	TNFRSF8 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
glycogen storage disease due to glycogen branching enzyme deficiency	Synovitis, acne, pustulosis, hyperostosis, and osteitis	1	1	GBE1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
GNPTAB-mucolipidosis	Mucopolysaccharidosis	1	1	GNPTAB (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Gollop-wolfgang complex	Syndactyly	1	1	BHLHA9 (4)	0.04348	1.00000	1.429e-3	2.207e-3	
Hemophilia a carriers	Venous thrombosis	1	1	F8 (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Febrile convulsion	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	1	1	UNC13A (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Cerebral arteriovenous malformations	neurodevelopmental disorder with microcephaly, ataxia, and seizures	1	1	SARS1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	143
Febrile convulsion	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	1	1	UNC13A (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Neutropenia, nonimmune chronic idiopathic, adult	Severe congenital neutropenia	1	1	GFI1 (6)	0.04348	1.00000	1.429e-3	2.207e-3	211
Neutrophilic leukemia	Severe congenital neutropenia	1	1	CSF3R (6)	0.04348	1.00000	1.429e-3	2.207e-3	211
Oculocerebrofacial syndrome	Polymyositis	1	1	UBE3B (4)	0.04348	1.00000	1.429e-3	2.207e-3	
oculocerebrofacial syndrome, Kaufman type	Polymyositis	1	1	UBE3B (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	OPA1-related optic atrophy with or without extraocular features	1	1	OPA1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Cerebral arteriovenous malformations	Osteopoikilosis	1	0	LEMD3 (1)	0.04348	1.00000	1.429e-3	2.207e-3	143
Patterson stevenson fontaine syndrome	Syndactyly	1	1	LMBR1 (4)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	Periodic paralysis with transient compartment-like syndrome	1	1	CACNA1S (2)	0.04348	1.00000	1.429e-3	2.207e-3	
IRIDA syndrome	Iron metabolism disorder	1	1	TMPRSS6 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Hydranencephaly	joubert syndrome 14	1	1	TMEM237 (2)	0.04348	1.00000	1.429e-3	2.207e-3	124
Hydranencephaly	joubert syndrome 36	1	1	FAM149B1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	124
Congenital muscular dystrophy	LAMA2-related muscular dystrophy	1	1	LAMA2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
leber congenital amaurosis 15	Syndactyly	1	1	TULP1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Iron metabolism disorder	lessel-kreienkamp syndrome	1	1	AGO2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	148
leukodystrophy, hypomyelinating, 16	Polymyositis	1	1	TMEM106B (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	malignant hyperthermia, susceptibility to, 5	1	1	CACNA1S (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Dursun syndrome	Severe congenital neutropenia	1	1	G6PC3 (6)	0.04348	1.00000	1.429e-3	2.207e-3	
Dysbiosis	Keratitis	1	1	TLR4 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Congenital muscular dystrophy	Dysferlinopathy	1	1	DYSF (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Dysferlinopathy	Synovitis, acne, pustulosis, hyperostosis, and osteitis	1	1	DYSF (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Dysarthria	Dyskinesia with orofacial involvement	1	1	ADCY5 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Dysarthria	Dyskinesia, familial, with facial myokymia	1	1	ADCY5 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
ectodermal dysplasia and immunodeficiency 2	Nasopharyngeal carcinoma	1	1	NFKBIA (2)	0.04348	1.00000	1.429e-3	2.207e-3	
factor XIII, A subunit, deficiency of	Venous thrombosis	1	1	F13A1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
factor XIII, b subunit, deficiency of	Venous thrombosis	1	1	F13B (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Dysarthria	Focal dystonia	1	1	GNAL (2)	0.04348	1.00000	1.429e-3	2.207e-3	
methylmalonic aciduria, cblb type	Polymyositis	1	1	MMAB (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Keratitis	mirror movements 1 and/or agenesis of the corpus callosum	1	1	DCC (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Mucopolysaccharidosis	mucopolysaccharidosis type 1	1	1	IDUA (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Mucopolysaccharidosis	mucopolysaccharidosis type 2	1	1	IDS (7)	0.04348	1.00000	1.429e-3	2.207e-3	
Mucopolysaccharidosis	mucopolysaccharidosis type 3A	1	1	SGSH (6)	0.04348	1.00000	1.429e-3	2.207e-3	147
Mucopolysaccharidosis	mucopolysaccharidosis type 3B	1	1	NAGLU (6)	0.04348	1.00000	1.429e-3	2.207e-3	147
Mucopolysaccharidosis	mucopolysaccharidosis type 3C	1	1	HGSNAT (6)	0.04348	1.00000	1.429e-3	2.207e-3	147
Mucopolysaccharidosis	mucopolysaccharidosis type 3D	1	1	GNS (5)	0.04348	1.00000	1.429e-3	2.207e-3	147
Mucopolysaccharidosis	mucopolysaccharidosis type 4A	1	1	GALNS (7)	0.04348	1.00000	1.429e-3	2.207e-3	147
Mucopolysaccharidosis	mucopolysaccharidosis type 4B	1	1	GLB1 (6)	0.04348	1.00000	1.429e-3	2.207e-3	
Mucopolysaccharidosis	mucopolysaccharidosis type 6	1	1	ARSB (7)	0.04348	1.00000	1.429e-3	2.207e-3	
Mucopolysaccharidosis	mucopolysaccharidosis type 7	1	1	GUSB (7)	0.04348	1.00000	1.429e-3	2.207e-3	147
Mucopolysaccharidosis	mucopolysaccharidosis type 9	1	1	HYAL1 (4)	0.04348	1.00000	1.429e-3	2.207e-3	
Mucopolysaccharidosis	mucopolysaccharidosis-plus syndrome	1	1	VPS33A (6)	0.04348	1.00000	1.429e-3	2.207e-3	147
Multiple epiphyseal dysplasia with early-onset diabetes mellitus	Sialolithiasis	1	1	EIF2AK3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	357
Centronuclear myopathy	Multisystem disorder	1	1	TOR1AIP1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Congenital muscular dystrophy	muscular dystrophy-dystroglycanopathy	1	1	LARGE1 (3)	0.04348	1.00000	1.429e-3	2.207e-3	40
Centronuclear myopathy	myasthenic syndrome, congenital, 1b, fast-channel	1	1	CHRNA1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Congenital muscular dystrophy	myopathy caused by variation in CRPPA	1	1	CRPPA (4)	0.04348	1.00000	1.429e-3	2.207e-3	40
Congenital muscular dystrophy	myopathy caused by variation in FKRP	1	1	FKRP (5)	0.04348	1.00000	1.429e-3	2.207e-3	40
Congenital muscular dystrophy	myopathy caused by variation in FKTN	1	1	FKTN (4)	0.04348	1.00000	1.429e-3	2.207e-3	40
Congenital muscular dystrophy	myopathy caused by variation in GMPPB	1	1	GMPPB (4)	0.04348	1.00000	1.429e-3	2.207e-3	40
Congenital muscular dystrophy	myopathy caused by variation in POMGNT1	1	1	POMGNT1 (4)	0.04348	1.00000	1.429e-3	2.207e-3	40
Congenital muscular dystrophy	myopathy caused by variation in POMT1	1	1	POMT1 (4)	0.04348	1.00000	1.429e-3	2.207e-3	40
Congenital muscular dystrophy	myopathy caused by variation in POMT2	1	1	POMT2 (4)	0.04348	1.00000	1.429e-3	2.207e-3	40
Centronuclear myopathy	myopathy, centronuclear, 5	1	1	SPEG (4)	0.04348	1.00000	1.429e-3	2.207e-3	377
Centronuclear myopathy	myopathy, centronuclear, 6, with fiber-type disproportion	1	1	MAP3K20 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	nemaline myopathy 7	1	1	CFL2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Erythematosquamous dermatosis	netherton syndrome	1	1	SPINK5 (2)	0.04348	1.00000	1.429e-3	2.207e-3	263
Hyaluronoglucosaminidase deficiency	Mucopolysaccharidosis	1	1	HYAL1 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
hypoinsulinemic hypoglycemia and body hemihypertrophy	Nasopharyngeal carcinoma	1	1	AKT2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	1	1	FOXP3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Hydranencephaly	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	1	1	FOXP3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Erythematosquamous dermatosis	Intellectual developmental disorder dysmorphic macrocephaly	1	1	ZBTB7A (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Benign mesial temporal lobe epilepsy	Febrile convulsion	1	1	CPA6 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Bile duct neoplasms	Cerebral arteriovenous malformations	1	1	EGFR (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Buschke-ollendorff syndrome	Cerebral arteriovenous malformations	1	1	LEMD3 (4)	0.04348	1.00000	1.429e-3	2.207e-3	143
Camptosynpolydactyly	Syndactyly	1	1	BHLHA9 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Congenital merosin-deficient muscular dystrophy	Congenital muscular dystrophy	1	1	LAMA2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Congenital muscular dystrophy	congenital muscular dystrophy with intellectual disability and severe epilepsy	1	1	DPM2 (4)	0.04348	1.00000	1.429e-3	2.207e-3	
congenital myasthenic syndrome 6	Febrile convulsion	1	1	CHAT (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Congenital myelofibrosis with anemia	Severe congenital neutropenia	1	1	RBSN (3)	0.04348	1.00000	1.429e-3	2.207e-3	211
Congenitally uncorrected transposition of the great arteries	Heterotaxy syndrome	1	1	CFC1 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Keratitis	1	1	NLRP1 (4)	0.04348	1.00000	1.429e-3	2.207e-3	
Cranio-cervical dystonia	Febrile convulsion	1	1	ANO3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	228
arthrogryposis multiplex congenita 3, myogenic type	Nasopharyngeal carcinoma	1	1	SYNE1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Autoimmune gastritis	Gastritis	1	0	ATP4B (1)	0.04348	1.00000	1.429e-3	2.207e-3	1
Autoinflammation with arthritis and dyskeratosis	Keratitis	1	1	NLRP1 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
autosomal recessive ataxia, Beauce type	Nasopharyngeal carcinoma	1	1	SYNE1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Severe congenital neutropenia	1	1	G6PC3 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Cerebellar vermis atrophy	Cerebral arteriovenous malformations	1	0	SYN3 (1)	0.04348	1.00000	1.429e-3	2.207e-3	143
Cernunnos-XLF deficiency	Syndactyly	1	1	NHEJ1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	189
Chylothorax	Heterotaxy syndrome	1	1	PKD1L1 (4)	0.04348	1.00000	1.429e-3	2.207e-3	54
Coasy protein-associated neurodegeneration	Mucopolysaccharidosis	1	1	COASY (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Coenzyme a synthase protein associated neurodegeneration	Mucopolysaccharidosis	1	0	COASY (1)	0.04348	1.00000	1.429e-3	2.207e-3	
Combined oxidative phosphorylation defect	Sialolithiasis	1	1	WARS2 (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Congenital central hypothyroidism	Keratitis	1	1	TRHR (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Cyclic hematopoiesis	Severe congenital neutropenia	1	1	ELANE (7)	0.04348	1.00000	1.429e-3	2.207e-3	
Cerebral arteriovenous malformations	Dermatofibrosis lenticularis disseminata	1	1	LEMD3 (2)	0.04348	1.00000	1.429e-3	2.207e-3	143
Disabling pansclerotic morphea of childhood	Polymyositis	1	1	STAT4 (3)	0.04348	1.00000	1.429e-3	2.207e-3	
Centronuclear myopathy	Dominant hereditary optic atrophy	1	0	OPA1 (1)	0.04348	1.00000	1.429e-3	2.207e-3	
2,8-dihydroxyadenine urolithiasis	Mucopolysaccharidosis	1	0	APRT (1)	0.04348	1.00000	1.429e-3	2.207e-3	
Acheiropody	Syndactyly	1	1	LMBR1 (5)	0.04348	1.00000	1.429e-3	2.207e-3	
Acrocapitofemoral dysplasia	Syndactyly	1	1	IHH (2)	0.04348	1.00000	1.429e-3	2.207e-3	189
Adenine phosphoribosyltransferase deficiency	Mucopolysaccharidosis	1	1	APRT (2)	0.04348	1.00000	1.429e-3	2.207e-3	
Adult polyglucosan body disease	Synovitis, acne, pustulosis, hyperostosis, and osteitis	1	1	GBE1 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Cerebral arteriovenous malformations	1	1	CDH2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
AKT2-related familial partial lipodystrophy	Nasopharyngeal carcinoma	1	1	AKT2 (2)	0.04348	1.00000	1.429e-3	2.207e-3	
AARS1-related leukoencephalopathy	Congenital clubfoot	1	1	AARS1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
ALG9-associated autosomal dominant polycystic kidney disease	Polycystic liver disease	1	1	ALG9 (2)	0.04167	1.00000	1.494e-3	2.294e-3	97
amyotrophic lateral sclerosis, susceptibility to, 24	Short-rib thoracic dysplasia	1	1	NEK1 (5)	0.04167	1.00000	1.494e-3	2.294e-3	19
Anterior segment dysgenesis	anterior segment dysgenesis 7	1	1	PXDN (4)	0.04167	1.00000	1.494e-3	2.294e-3	
Anterior segment dysgenesis	anterior segment dysgenesis 8	1	1	CPAMD8 (5)	0.04167	1.00000	1.494e-3	2.294e-3	82
Asphyxia	Short-rib thoracic dysplasia	1	1	IFT80 (3)	0.04167	1.00000	1.494e-3	2.294e-3	
asphyxiating thoracic dystrophy 2	Short-rib thoracic dysplasia	1	1	IFT80 (3)	0.04167	1.00000	1.494e-3	2.294e-3	
Anterior segment dysgenesis	Axonal neuropathy	1	1	GBF1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	82
Baralle-macken syndrome	Skeletal dysplasia	1	1	COPB1 (4)	0.04167	1.00000	1.494e-3	2.294e-3	
Beemer-langer syndrome	Short-rib thoracic dysplasia	1	1	IFT80 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Boomerang dysplasia	Bullous pemphigoid	1	1	FLNB (6)	0.04167	1.00000	1.494e-3	2.294e-3	
Boomerang dysplasia	Congenital clubfoot	1	1	FLNB (5)	0.04167	1.00000	1.494e-3	2.294e-3	
Anterior segment dysgenesis	Congenital malformation of cornea	1	0	KERA (1)	0.04167	1.00000	1.494e-3	2.294e-3	
Anterior segment dysgenesis	Cornea plana	1	1	KERA (5)	0.04167	1.00000	1.494e-3	2.294e-3	
cranioectodermal dysplasia 2	Short-rib thoracic dysplasia	1	1	WDR35 (5)	0.04167	1.00000	1.494e-3	2.294e-3	
Craniotubular dysplasia	Skeletal dysplasia	1	1	TMEM53 (4)	0.04167	1.00000	1.494e-3	2.294e-3	93
Anterior segment dysgenesis	CYP1B1-related glaucoma with or without anterior segment dysgenesis	1	1	CYP1B1 (4)	0.04167	1.00000	1.494e-3	2.294e-3	
Congenital clubfoot	developmental and epileptic encephalopathy, 29	1	1	AARS1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Developmental delay with or without epilepsy	Short-rib thoracic dysplasia	1	1	SPTAN1 (3)	0.04167	1.00000	1.494e-3	2.294e-3	19
Dilatation of left cardiac ventricle	Restrictive cardiomyopathy	1	0	ACTC1 (1)	0.04167	1.00000	1.494e-3	2.294e-3	
dilated cardiomyopathy 1D	Restrictive cardiomyopathy	1	1	TNNT2 (4)	0.04167	1.00000	1.494e-3	2.294e-3	
dilated cardiomyopathy 1FF	Restrictive cardiomyopathy	1	1	TNNI3 (4)	0.04167	1.00000	1.494e-3	2.294e-3	
dilated cardiomyopathy 1I	Restrictive cardiomyopathy	1	1	DES (2)	0.04167	1.00000	1.494e-3	2.294e-3	3
dilated cardiomyopathy 1KK	Restrictive cardiomyopathy	1	1	MYPN (4)	0.04167	1.00000	1.494e-3	2.294e-3	
dilated cardiomyopathy 1R	Restrictive cardiomyopathy	1	1	ACTC1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
dilated cardiomyopathy 2A	Restrictive cardiomyopathy	1	1	TNNI3 (4)	0.04167	1.00000	1.494e-3	2.294e-3	
Charcot-Marie-Tooth disease axonal type 2N	Congenital clubfoot	1	1	AARS1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Childhood-onset basal ganglia degeneration syndrome	Diffuse cutaneous systemic sclerosis	1	1	VAC14 (3)	0.04167	1.00000	1.494e-3	2.294e-3	
Anti-neutrophil antibody associated vasculitis	Chromosome xq27.3-q28 duplication syndrome	1	1	FMR1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
ciliary dyskinesia, primary, 41	Nasal disorder	1	1	GAS2L2 (2)	0.04167	1.00000	1.494e-3	2.294e-3	103
cobblestone lissencephaly without muscular or ocular involvement	Fuchs endothelial dystrophy	1	1	LAMB1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency	Nasal disorder	1	1	IKZF3 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Anterior segment dysgenesis	Congenital cataract anterior segment dysgenesis syndrome	1	1	PITX3 (5)	0.04167	1.00000	1.494e-3	2.294e-3	
Anterior segment dysgenesis	Congenital cornea plana	1	1	KERA (2)	0.04167	1.00000	1.494e-3	2.294e-3	
immunodeficiency 84	Nasal disorder	1	1	IKZF3 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
immunoskeletal dysplasia with neurodevelopmental abnormalities	Skeletal dysplasia	1	1	EXTL3 (3)	0.04167	1.00000	1.494e-3	2.294e-3	93
Intellectual developmental disorder growth seizures	Systemic mastocytosis	1	1	ABCA2 (4)	0.04167	1.00000	1.494e-3	2.294e-3	237
Fuchs endothelial dystrophy	Intellectual developmental disorder seizures cerebellar	1	1	RORA (4)	0.04167	1.00000	1.494e-3	2.294e-3	
Fuchs endothelial dystrophy	neutral lipid storage myopathy	1	1	PNPLA2 (2)	0.04167	1.00000	1.494e-3	2.294e-3	87
Congenital impairment of spermatozoa motility	Nonobstructive azoospermia	1	1	SLC26A8 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Maturity-onset diabetes of the young (mody)	Pancreatic beta-cell agenesis with neonatal diabetes mellitus	1	0	PTF1A (1)	0.04167	1.00000	1.494e-3	2.294e-3	
polycystic kidney disease 3 with or without polycystic liver disease	Polycystic liver disease	1	1	GANAB (2)	0.04167	1.00000	1.494e-3	2.294e-3	97
Polycystic liver disease	polycystic liver disease 1	1	1	PRKCSH (6)	0.04167	1.00000	1.494e-3	2.294e-3	97
Polycystic liver disease	polycystic liver disease 2	1	1	SEC63 (6)	0.04167	1.00000	1.494e-3	2.294e-3	97
Congenital impairment of spermatozoa motility	primary ciliary dyskinesia 21	1	1	DRC1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
pycnodysostosis	Skeletal dysplasia	1	1	CTSK (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Polycystic liver disease	SEC61A1 deficiency	1	1	SEC61A1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	97
Polycystic liver disease	SEC61B-related polycystic liver disease	1	1	SEC61B (3)	0.04167	1.00000	1.494e-3	2.294e-3	97
Short-rib thoracic dysplasia	short-rib thoracic dysplasia 11 with or without polydactyly	1	1	DYNC2I2 (5)	0.04167	1.00000	1.494e-3	2.294e-3	19
Short-rib thoracic dysplasia	short-rib thoracic dysplasia 16 with or without polydactyly	1	1	IFT52 (5)	0.04167	1.00000	1.494e-3	2.294e-3	19
Short-rib thoracic dysplasia	short-rib thoracic dysplasia 17 with or without polydactyly	1	1	DYNLT2B (5)	0.04167	1.00000	1.494e-3	2.294e-3	19
Short-rib thoracic dysplasia	short-rib thoracic dysplasia 19 with or without polydactyly	1	1	IFT81 (5)	0.04167	1.00000	1.494e-3	2.294e-3	19
Short-rib thoracic dysplasia	short-rib thoracic dysplasia 7 with or without polydactyly	1	1	WDR35 (5)	0.04167	1.00000	1.494e-3	2.294e-3	
Short-rib thoracic dysplasia	short-rib thoracic dysplasia 8 with or without polydactyly	1	1	DYNC2I1 (4)	0.04167	1.00000	1.494e-3	2.294e-3	19
Skeletal dysplasia	skeletal dysplasia, mild, with joint laxity and advanced bone age	1	1	CSGALNACT1 (4)	0.04167	1.00000	1.494e-3	2.294e-3	
Congenital impairment of spermatozoa motility	spermatogenic failure 18	1	1	DNAH1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	11
Congenital impairment of spermatozoa motility	spermatogenic failure 19	1	1	CFAP43 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Congenital impairment of spermatozoa motility	spermatogenic failure 38	1	1	ARMC2 (2)	0.04167	1.00000	1.494e-3	2.294e-3	11
Congenital impairment of spermatozoa motility	spermatogenic failure 39	1	1	DNAH17 (2)	0.04167	1.00000	1.494e-3	2.294e-3	11
Skeletal dysplasia	spondyloepiphyseal dysplasia with congenital joint dislocations	1	1	CHST3 (3)	0.04167	1.00000	1.494e-3	2.294e-3	
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Systemic mastocytosis	1	1	MOCS1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Anti-neutrophil antibody associated vasculitis	Thiopurine immunosuppressant-induced pancreatitis	1	0	HLA-DQB3 (1)	0.04167	1.00000	1.494e-3	2.294e-3	1
Short-rib thoracic dysplasia	Thoracic malformation	1	1	FGF4 (3)	0.04167	1.00000	1.494e-3	2.294e-3	19
Restrictive cardiomyopathy	Timothy syndrome	1	1	CACNA1C (6)	0.04167	1.00000	1.494e-3	2.294e-3	
Anti-neutrophil antibody associated vasculitis	Hemophilia a carriers	1	1	F8 (3)	0.04167	1.00000	1.494e-3	2.294e-3	
Maturity-onset diabetes of the young (mody)	maturity-onset diabetes of the young type 8	1	1	CEL (7)	0.04167	1.00000	1.494e-3	2.294e-3	
mucopolysaccharidosis type 4A	Skeletal dysplasia	1	1	GALNS (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Diffuse cutaneous systemic sclerosis	multiple self-healing squamous epithelioma	1	1	TGFBR1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	22
MYPN-related myopathy	Restrictive cardiomyopathy	1	1	MYPN (4)	0.04167	1.00000	1.494e-3	2.294e-3	
Congenital clubfoot	nail-patella syndrome	1	1	LMX1B (2)	0.04167	1.00000	1.494e-3	2.294e-3	27
nephronophthisis 12	Short-rib thoracic dysplasia	1	1	TTC21B (3)	0.04167	1.00000	1.494e-3	2.294e-3	19
Fuchs endothelial dystrophy	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	1	1	PIDD1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	87
INTU-related skeletal ciliopathy	Short-rib thoracic dysplasia	1	1	INTU (4)	0.04167	1.00000	1.494e-3	2.294e-3	19
Fuchs endothelial dystrophy	knobloch syndrome 1	1	1	COL18A1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Fuchs endothelial dystrophy	LAMA5-related multisystemic syndrome	1	1	LAMA5 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
LCA5-related retinopathy	Polycystic liver disease	1	1	LCA5 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Congenital clubfoot	Leukoencephalopathy	1	1	AARS1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Bullous pemphigoid	Majeed syndrome	1	1	LPIN2 (7)	0.04167	1.00000	1.494e-3	2.294e-3	
Congenital clubfoot	ehlers-danlos syndrome, musculocontractural type 1	1	1	CHST14 (2)	0.04167	1.00000	1.494e-3	2.294e-3	27
EYS-related retinopathy	Systemic mastocytosis	1	1	EYS (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Bullous pemphigoid	FLNB-associated autosomal dominant filamin related bone disorder	1	1	FLNB (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Congenital clubfoot	FLNB-associated autosomal dominant filamin related bone disorder	1	1	FLNB (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Anti-neutrophil antibody associated vasculitis	fragile x syndrome	1	1	FMR1 (2)	0.04167	1.00000	1.494e-3	2.294e-3	
Ductus arteriosus, patent	Intestinal pseudo-obstruction	1	1	TFAP2B (2)	0.10000	0.25000	1.558e-3	2.360e-3	
Erythropoietic protoporphyria	X-linked sideroblastic anemia	1	1	ALAS2 (6)	0.10000	0.25000	1.558e-3	2.360e-3	
Contracture of multiple joints	Skeletal muscle disorder	1	0	KIF5B (1)	0.10000	0.25000	1.558e-3	2.360e-3	
Ovarian mucinous adenocarcinoma	Testotoxicosis	1	1	INHBB (3)	0.10000	0.25000	1.558e-3	2.360e-3	
Disorders of sex development	Testotoxicosis	1	1	LHCGR (2)	0.10000	0.25000	1.558e-3	2.360e-3	
Cleft lip and cleft of alveolar process of maxilla	Van der woude syndrome	1	1	IRF6 (7)	0.10000	0.25000	1.558e-3	2.360e-3	
Gastrointestinal hemorrhage	Waldenstrom macroglobulinemia	1	1	IRF4 (2)	0.10000	0.25000	1.558e-3	2.360e-3	
Adenomatous polyposis	Xanthinuria	1	0	TSC2 (1)	0.10000	0.25000	1.558e-3	2.360e-3	48
Cerebral cortical atrophy	Proximal spinal muscular atrophy	1	0	SPG7 (1)	0.10000	0.25000	1.558e-3	2.360e-3	348
Congenital hyperinsulinism	Intestinal disaccharide malabsorption	1	1	GCK (3)	0.10000	0.25000	1.558e-3	2.360e-3	
Laryngeal neoplasms	Male reproductive system disease	1	0	WNT7B (1)	0.10000	0.25000	1.558e-3	2.360e-3	
Encephalocele	Monomelic amyotrophy	1	0	CPLANE1 (1)	0.10000	0.25000	1.558e-3	2.360e-3	
Congenital cystic eyeball	Multiple synostoses syndrome	1	1	GDF6 (5)	0.10000	0.25000	1.558e-3	2.360e-3	
Myoclonic dystonia	Pituitary neoplasms	1	1	DRD2 (2)	0.10000	0.25000	1.558e-3	2.360e-3	118
Bowen’s disease	Intestinal polyps	1	0	CCND1 (1)	0.10000	0.25000	1.558e-3	2.360e-3	
Anterior polar cataract	Embryonal nuclear cataract	1	1	CRYBB3 (3)	0.10000	0.25000	1.558e-3	2.360e-3	
autosomal recessive primary microcephaly	Congenital malformation syndromes associated with short stature	1	1	CDK5RAP2 (2)	0.10000	0.25000	1.558e-3	2.360e-3	
Carotid artery thrombosis	Congenital lactic acidosis	1	1	STXBP2 (2)	0.10000	0.25000	1.558e-3	2.360e-3	
Congenital lactic acidosis	Lobular carcinoma	1	1	PPP1R12B (2)	0.10000	0.25000	1.558e-3	2.360e-3	
Corneal edema	Laryngeal disease	1	0	ARHGAP21 (1)	0.10000	0.25000	1.558e-3	2.360e-3	
Coronary syndrome	Paralytic strabismus	1	0	PHACTR1 (1)	0.10000	0.25000	1.558e-3	2.360e-3	
Disorders of sex development	Male pseudohypopituitarism	1	1	AKR1C2 (2)	0.10000	0.25000	1.558e-3	2.360e-3	363
15q11.2 microdeletion syndrome	Complex cortical dysplasia with other brain malformations	1	1	TUBG1 (3)	0.09091	0.33333	1.558e-3	2.360e-3	144
Circadian rhythm sleep disorder	Pernicious anemia	1	0	CNTN5 (1)	0.09091	0.33333	1.558e-3	2.360e-3	
Cleidocranial dysplasia	Facial nerve disorder	1	1	SUPT3H (2)	0.09091	0.33333	1.558e-3	2.360e-3	
Corticobasal syndrome	Frontotemporal dementia with motor neuron disease	1	1	TBK1 (2)	0.09091	0.33333	1.558e-3	2.360e-3	
Cataract-multisystem syndrome	Hoyeraal hreidarsson syndrome	1	1	DKC1 (5)	0.09091	0.33333	1.558e-3	2.360e-3	
Cholestasis	Metachromatic leukodystrophy	1	0	YARS1 (1)	0.09091	0.33333	1.558e-3	2.360e-3	
Chromosome 22q11.2 microdeletion syndrome	Liver cancer	1	1	MAPK1 (3)	0.09091	0.33333	1.558e-3	2.360e-3	
Accessory skin tag	Arterial tortuosity syndrome	1	0	EFEMP2 (1)	0.09091	0.33333	1.558e-3	2.360e-3	
Arterial tortuosity syndrome	Ruptured abdominal aortic aneurysm	1	0	EFEMP2 (1)	0.09091	0.33333	1.558e-3	2.360e-3	64
Metaphyseal chondrodysplasia	Metaphyseal dysplasia	1	1	MMP13 (6)	0.09091	0.33333	1.558e-3	2.360e-3	
3-methylglutaconic aciduria	Mitochondrial encephalopathy	1	1	TIMM50 (2)	0.09091	0.33333	1.558e-3	2.360e-3	
Metaphyseal chondrodysplasia	Trichorhinophalangeal syndrome	1	1	TRPS1 (7)	0.09091	0.33333	1.558e-3	2.360e-3	
Duodenitis	Sitosterolemia	1	1	ABCG8 (7)	0.09091	0.33333	1.558e-3	2.360e-3	
Benign mucous membrane pemphigoid with ocular involvement	Duodenitis	1	1	HLA-DQB1 (2)	0.09091	0.33333	1.558e-3	2.360e-3	1
Early onset epilepsy with developmental delay	Familial adult myoclonic epilepsy	1	1	CNTN2 (5)	0.09091	0.33333	1.558e-3	2.360e-3	284
Adult myoclonic epilepsy	Early onset epilepsy with developmental delay	1	1	CNTN2 (4)	0.09091	0.33333	1.558e-3	2.360e-3	284
Insulin dependent diabetes mellitus secretory diarrhea syndrome	Occupational dermatitis	1	1	FOXP3 (3)	0.09091	0.33333	1.558e-3	2.360e-3	
Infertility	Olmsted syndrome	1	1	SPATA22 (2)	0.09091	0.33333	1.558e-3	2.360e-3	
Spermatogenic failure, x-linked	Synovial sarcoma	1	1	SSX1 (5)	0.09091	0.33333	1.558e-3	2.360e-3	11
Penile hypospadia	Synpolydactyly	1	1	HOXD13 (5)	0.09091	0.33333	1.558e-3	2.360e-3	111
Complex cortical dysplasia with other brain malformations	lissencephaly spectrum disorders	1	1	TUBG1 (3)	0.09091	0.33333	1.558e-3	2.360e-3	144
Benign mucous membrane pemphigoid with ocular involvement	Liver cancer	1	1	HLA-DQB1 (2)	0.09091	0.33333	1.558e-3	2.360e-3	
Cardiofaciocutaneous syndrome	Noonan syndrome-like disorder with loose anagen hair	1	1	SHOC2 (2)	0.07143	0.50000	1.558e-3	2.360e-3	49
Ovarian dysgenesis	Ovarian hyperstimulation syndrome	1	1	FSHR (6)	0.07143	0.50000	1.558e-3	2.360e-3	149
Paranoia	Parapsoriasis	1	1	HLA-A (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Paralysis	Parkinson-dementia complex of guam	1	1	TRPM7 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Periapical periodontitis	Tonic-clonic epilepsy	1	1	FGF2 (2)	0.07143	0.50000	1.558e-3	2.360e-3	142
Neonatal diabetes mellitus with congenital hypothyroidism	Periprosthetic osteolysis	1	1	GLIS3 (6)	0.07143	0.50000	1.558e-3	2.360e-3	416
Renovascular hypertension	Vestibular disease	1	1	NOS3 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Tonic-clonic epilepsy	Water intoxication	1	1	OXT (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Corneal disease	White spongue nevus	1	1	KRT4 (5)	0.07143	0.50000	1.558e-3	2.360e-3	283
Congenital structural myopathy	X-linked myotubular myopathy	1	1	MTM1 (4)	0.07143	0.50000	1.558e-3	2.360e-3	
Cataract-glaucoma syndrome	Stomach disease	1	1	TRPM3 (3)	0.07143	0.50000	1.558e-3	2.360e-3	122
Autoimmune pancreatitis	Stomach disease	1	0	HLA-DQB1 (1)	0.07143	0.50000	1.558e-3	2.360e-3	
Hereditary corneal dystrophy	Thiel-behnke corneal dystrophy	1	1	TGFBI (4)	0.07143	0.50000	1.558e-3	2.360e-3	
Autoimmune pancreatitis	Thyrotoxic periodic paralysis	1	1	HLA-DQB1 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Growth hormone insensitivity, partial	Specific learning disability	1	1	GHR (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Duane retraction syndrome	Primary adrenal insufficiency	1	1	CUX1 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Paranoia	Primary cutaneous anaplastic large cell lymphoma	1	1	TYK2 (3)	0.07143	0.50000	1.558e-3	2.360e-3	
Congenital nonspherocytic hemolytic anemia	Pyruvate kinase deficiency	1	1	PKLR (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Diabetes complications	qualitative platelet defect	1	1	ABCC4 (3)	0.07143	0.50000	1.558e-3	2.360e-3	
autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Hydronephrosis	1	1	UMOD (2)	0.07143	0.50000	1.558e-3	2.360e-3	
17 alpha-hydroxyprogesterone aldolase deficiency	Paranoia	1	1	AKR1C4 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Alopecia-intellectual disability syndrome	Hypotrichosis simplex	1	1	LSS (3)	0.07143	0.50000	1.558e-3	2.360e-3	
Amed syndrome	Diabetes complications	1	1	ALDH2 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Amish infantile epilepsy syndrome	Latent autoimmune diabetes in adults	1	1	ATXN2 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Anaplasia	Diabetes complications	1	1	HIF1A (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Anaptoglobinemia	Diabetes complications	1	1	HP (4)	0.07143	0.50000	1.558e-3	2.360e-3	
Demyelinating hereditary motor and sensory neuropathy	Rothmund-thomson syndrome	1	1	FBLN5 (3)	0.07143	0.50000	1.558e-3	2.360e-3	94
Bilirubin metabolism disease	Dihydropyrimidine metabolism disorder	1	1	DPYS (4)	0.07143	0.50000	1.558e-3	2.360e-3	
Developmental coordination disorder	Discoid lupus erythematosus	1	0	OGG1 (1)	0.07143	0.50000	1.558e-3	2.360e-3	
Distal amyotrophy	Myofibrillar myopathy	1	1	MYOT (3)	0.07143	0.50000	1.558e-3	2.360e-3	
Dopamine beta-hydroxy­lase deficiency	Paranoia	1	1	DBH (3)	0.07143	0.50000	1.558e-3	2.360e-3	
Duane retraction syndrome	Duane-radial ray syndrome	1	1	SALL4 (6)	0.07143	0.50000	1.558e-3	2.360e-3	
Bilateral generalized polymicrogyria	Trigeminal neuralgia	1	1	GRIN1 (3)	0.07143	0.50000	1.558e-3	2.360e-3	
Birk-barel syndrome	Stomach disease	1	1	TRPM3 (2)	0.07143	0.50000	1.558e-3	2.360e-3	122
Bmpr1a-related juvenile polyposis	Ductal carcinoma of breast	1	1	SMAD4 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Bombay phenotype	Megaloblastic anemia	1	1	FUT2 (3)	0.07143	0.50000	1.558e-3	2.360e-3	100
Bombay phenotype	Vitamin b deficiency	1	1	FUT2 (4)	0.07143	0.50000	1.558e-3	2.360e-3	100
Bone remodeling disease	Breast fibrocystic disease	1	0	CSMD1 (1)	0.07143	0.50000	1.558e-3	2.360e-3	
Brittle cornea syndrome	Corneal disease	1	1	ZNF469 (6)	0.07143	0.50000	1.558e-3	2.360e-3	
Charcot-Marie-Tooth disease type 2	Congenital pes cavus	1	1	NEFL (2)	0.07143	0.50000	1.558e-3	2.360e-3	13
Cholecystitis	Keppen-lubinsky syndrome	1	1	KCNJ6 (6)	0.07143	0.50000	1.558e-3	2.360e-3	
Coats plus syndrome	Lipoma	1	1	STN1 (2)	0.07143	0.50000	1.558e-3	2.360e-3	138
Cobblestone lissencephaly	Corneal disease	1	1	LAMB1 (6)	0.07143	0.50000	1.558e-3	2.360e-3	
Cobblestone lissencephaly	Periventricular nodular heterotopia	1	1	TMTC3 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Colobomatous optic disc macular atrophy chorioretinopathy syndrome	Nanophthalmos	1	1	SIX6 (4)	0.07143	0.50000	1.558e-3	2.360e-3	52
Cone-rod synaptic disorder	Congenital stationary night blindness	1	1	CABP4 (4)	0.07143	0.50000	1.558e-3	2.360e-3	
Congenital sodium diarrhea	Intestinal obstruction	1	1	SLC9A3 (3)	0.07143	0.50000	1.558e-3	2.360e-3	
Corneal disease	ehlers-danlos syndrome, classic type	1	1	COL5A1 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Corneal endothelial dystrophy	Hereditary corneal dystrophy	1	1	SLC4A11 (3)	0.07143	0.50000	1.558e-3	2.360e-3	87
Corneal disease	Corneal endothelial dystrophy	1	1	KRT3 (2)	0.07143	0.50000	1.558e-3	2.360e-3	
Blood coagulation disorder	Congenital factor x deficiency	1	1	F10 (5)	0.04000	1.00000	1.559e-3	2.360e-3	
Congenital hypothalamic hamartoma syndrome	Meningioma	1	1	SMO (3)	0.04000	1.00000	1.559e-3	2.360e-3	297
cowden syndrome 6	Meningioma	1	1	AKT1 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
cranioectodermal dysplasia 1	Short rib dysplasia-polydactyly syndrome	1	1	IFT122 (2)	0.04000	1.00000	1.559e-3	2.360e-3	19
Curry-jones syndrome	Meningioma	1	1	SMO (5)	0.04000	1.00000	1.559e-3	2.360e-3	297
Den hoed-de boer-voisin syndrome	Hyperaldosteronism	1	1	SATB1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Developmental delay with dysmorphic facies and dental anomalies	Hyperaldosteronism	1	1	SATB1 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Conduction disorder of the heart	dilated cardiomyopathy 1BB	1	1	DSG2 (2)	0.04000	1.00000	1.559e-3	2.360e-3	3
dilated cardiomyopathy 2B	Peroxisome biogenesis disorder	1	1	GATAD1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	141
Disorder of sex development	Hyperaldosteronism	1	1	RXFP2 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
ARHGAP29-related non-syndromic orofacial cleft	Uranostaphyloschisis	1	1	ARHGAP29 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Autoimmune thrombocytopenic purpura	fraser syndrome 3	1	1	GRIP1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Autoimmune thrombocytopenic purpura	Cerebellar hypoplasia	1	1	VLDLR (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Autoimmune thrombocytopenic purpura	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	1	1	VLDLR (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Autoimmune thrombocytopenic purpura	Autoinflammatory syndrome with immunodeficiency	1	1	SOCS1 (4)	0.04000	1.00000	1.559e-3	2.360e-3	330
Autoimmune thrombocytopenic purpura	Autoinflammatory syndrome, familial, with or without immunodeficiency	1	1	SOCS1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	330
Autoimmune thrombocytopenic purpura	Autoimmunity-autoinflammation-immunodeficiency syndrome	1	1	SOCS1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	330
17-beta-hydroxysteroid dehydrogenase deficiency	Myoclonic epilepsy	1	1	HSD17B3 (4)	0.04000	1.00000	1.559e-3	2.360e-3	
1p31p32 microdeletion syndrome	Uranostaphyloschisis	1	1	NFIA (2)	0.04000	1.00000	1.559e-3	2.360e-3	
2q37 microdeletion syndrome	Mixed connective tissue disease	1	1	HDAC4 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
3-methylglutaconic aciduria type 8	Transient ischemic attack	1	1	HTRA2 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Abruzzo-erickson syndrome	Uranostaphyloschisis	1	1	TBX22 (2)	0.04000	1.00000	1.559e-3	2.360e-3	226
Acys amyloidosis	Meningioma	1	1	CST3 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Adult polyglucosan body disease	Polyneuropathy	1	1	GBE1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
amyotrophic lateral sclerosis, susceptibility to, 24	Short rib dysplasia-polydactyly syndrome	1	1	NEK1 (4)	0.04000	1.00000	1.559e-3	2.360e-3	19
Cleft palate cardiac defects impaired intellectual development	Uranostaphyloschisis	1	1	MEIS2 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	Uranostaphyloschisis	1	1	MEIS2 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Cleft palate proliferative retinopathy developmental delay	Uranostaphyloschisis	1	1	LRRC32 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Cleft palate with ankyloglossia	Uranostaphyloschisis	1	1	TBX22 (5)	0.04000	1.00000	1.559e-3	2.360e-3	226
cleft palate with or without ankyloglossia, x-linked	Uranostaphyloschisis	1	1	TBX22 (2)	0.04000	1.00000	1.559e-3	2.360e-3	226
Cleft palate x-linked	Uranostaphyloschisis	1	1	TBX22 (2)	0.04000	1.00000	1.559e-3	2.360e-3	226
Congenital cataract microcephaly intellectual disability syndrome	Polyneuropathy	1	1	MED25 (2)	0.04000	1.00000	1.559e-3	2.360e-3	241
Blood coagulation disorder	Body skin hyperlaxity	1	1	GGCX (5)	0.04000	1.00000	1.559e-3	2.360e-3	
brain malformations with or without urinary tract defects	Uranostaphyloschisis	1	1	NFIA (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Cerebrocostomandibular syndrome	Mixed connective tissue disease	1	1	SNRPB (6)	0.04000	1.00000	1.559e-3	2.360e-3	44
Charcot-Marie-Tooth disease type 1A	Myoclonic epilepsy	1	1	PMP22 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Charcot-Marie-tooth disease, axonal, type 2DD	Hyperaldosteronism	1	1	ATP1A1 (3)	0.04000	1.00000	1.559e-3	2.360e-3	296
Chromosome 1p32-p31 deletion syndrome	Uranostaphyloschisis	1	1	NFIA (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Hyperaldosteronism	Peters plus syndrome	1	1	B3GLCT (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Hemorrhage	platelet-type bleeding disorder 8	1	1	P2RY12 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Meningioma	porphyria due to ALA dehydratase deficiency	1	1	ALAD (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Polyneuropathy	Primary immunodeficiency with defective natural killer cell cytotoxicity	1	1	FCGR3A (4)	0.04000	1.00000	1.559e-3	2.360e-3	
primordial dwarfism-immunodeficiency-lipodystrophy syndrome	Uterine polyp	1	1	PRIM1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Progressive myoclonic epilepsy	Progressive myoclonic epilepsy with renal failure	1	1	SEMA6B (5)	0.04000	1.00000	1.559e-3	2.360e-3	339
Retinopathy-sensory neuropathy syndrome	Short rib dysplasia-polydactyly syndrome	1	1	FLVCR1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Myoclonic epilepsy	neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	1	1	CAPRIN1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Mixed connective tissue disease	neurodevelopmental disorder with microcephaly and dysmorphic facies	1	1	SPOP (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Mixed connective tissue disease	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	1	1	SPOP (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Meningioma	NF2-related schwannomatosis	1	1	NF2 (6)	0.04000	1.00000	1.559e-3	2.360e-3	
Meningioma	NTHL1-deficiency tumor predisposition syndrome	1	1	NTHL1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Hyperaldosteronism	Oropharyngeal dysphagia	1	1	ATP2B3 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Deficiency anemia	Partial deficiency of methylmalonyl-coenzyme a mutase	1	1	MMUT (2)	0.04000	1.00000	1.559e-3	2.360e-3	
intellectual disability, autosomal dominant 42	Uranostaphyloschisis	1	1	GNB1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Intracranial hypertension	Mixed connective tissue disease	1	1	SLC4A10 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
INTU-related skeletal ciliopathy	Short rib dysplasia-polydactyly syndrome	1	1	INTU (2)	0.04000	1.00000	1.559e-3	2.360e-3	19
joubert syndrome 17	Uranostaphyloschisis	1	1	CPLANE1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Juvenile absence epilepsy	Myoclonic epilepsy	1	1	EFHC1 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Juvenile myoclonic epilepsy	Myoclonic epilepsy	1	1	CILK1 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Juvenile myoclonic epilepsy	Short rib dysplasia-polydactyly syndrome	1	1	CILK1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
leber-like hereditary optic neuropathy, autosomal recessive 1	Williams syndrome	1	1	DNAJC30 (3)	0.04000	1.00000	1.559e-3	2.360e-3	12
Hemorrhage	leukocyte adhesion deficiency 3	1	1	FERMT3 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	Meningioma	1	1	CST3 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Hereditary atrial fibrillation	long qt syndrome 5	1	1	KCNE1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Deficiency anemia	methylmalonic acidemia due to transcobalamin receptor defect	1	1	CD320 (2)	0.04000	1.00000	1.559e-3	2.360e-3	100
Deficiency anemia	methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	1	1	MMUT (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Deficiency anemia	methylmalonic aciduria, cblA type	1	1	MMAA (2)	0.04000	1.00000	1.559e-3	2.360e-3	100
Deficiency anemia	Methylmalonyl-coa mutase deficiency	1	1	MMUT (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Congenital pectus carinatum	Mixed connective tissue disease	1	0	FBN1 (1)	0.04000	1.00000	1.559e-3	2.360e-3	
Meningioma	mosaic SMO syndrome	1	1	SMO (3)	0.04000	1.00000	1.559e-3	2.360e-3	297
myasthenic syndrome, congenital, 1b, fast-channel	Myoclonic epilepsy	1	1	CHRNA1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Myoclonus-renal failure syndrome	Progressive myoclonic epilepsy	1	1	SCARB2 (6)	0.04000	1.00000	1.559e-3	2.360e-3	339
Conduction disorder of the heart	Naxos disease	1	1	JUP (6)	0.04000	1.00000	1.559e-3	2.360e-3	
nephronophthisis 12	Short rib dysplasia-polydactyly syndrome	1	1	TTC21B (3)	0.04000	1.00000	1.559e-3	2.360e-3	19
Myoclonic epilepsy	neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	1	1	CAPRIN1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Blood coagulation disorder	Factor x deficiency	1	1	F10 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
familial hyperaldosteronism type III	Hyperaldosteronism	1	1	KCNJ5 (6)	0.04000	1.00000	1.559e-3	2.360e-3	
familial hyperaldosteronism type III	Hereditary atrial fibrillation	1	1	KCNJ5 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
familial meningioma	Meningioma	1	1	SMARCE1 (6)	0.04000	1.00000	1.559e-3	2.360e-3	
fanconi anemia complementation group d2	Uranostaphyloschisis	1	1	FANCD2 (2)	0.04000	1.00000	1.559e-3	2.360e-3	226
FLVCR1-related retinopathy with or without ataxia	Short rib dysplasia-polydactyly syndrome	1	1	FLVCR1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Progressive myoclonic epilepsy	1	1	C9orf72 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Blood coagulation disorder	inherited blood coagulation disorder	1	1	APOLD1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 5	Polyneuropathy	1	1	CCNF (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Glycine n-methyltransferase deficiency	Peroxisome biogenesis disorder	1	1	GNMT (5)	0.04000	1.00000	1.559e-3	2.360e-3	
glycogen storage disease due to glycogen branching enzyme deficiency	Polyneuropathy	1	1	GBE1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Hereditary neuropathy with liability to pressure palsies	Myoclonic epilepsy	1	1	PMP22 (4)	0.04000	1.00000	1.559e-3	2.360e-3	
Conduction disorder of the heart	hereditary spherocytosis	1	1	ANK1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Blood coagulation disorder	vitamin K-dependent clotting factors, combined deficiency of, type 1	1	1	GGCX (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Blood coagulation disorder	vitamin K-dependent clotting factors, combined deficiency of, type 2	1	1	VKORC1 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Hemorrhage	vitamin K-dependent clotting factors, combined deficiency of, type 2	1	1	VKORC1 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
cutis laxa, autosomal dominant 1	Williams syndrome	1	1	ELN (6)	0.04000	1.00000	1.559e-3	2.360e-3	
Meningioma	Winter shortland temple syndrome	1	1	SMO (3)	0.04000	1.00000	1.559e-3	2.360e-3	297
Peroxisome biogenesis disorder	X-linked cerebral adrenoleukodystrophy	1	1	ABCD1 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Uranostaphyloschisis	X-linked cleft palate and ankloglossia	1	1	TBX22 (2)	0.04000	1.00000	1.559e-3	2.360e-3	226
Hyperaldosteronism	X-linked non progressive cerebellar ataxia	1	1	ATP2B3 (4)	0.04000	1.00000	1.559e-3	2.360e-3	
Myoclonic epilepsy	self-limited familial neonatal epilepsy	1	1	KCNQ3 (3)	0.04000	1.00000	1.559e-3	2.360e-3	
Short rib dysplasia-polydactyly syndrome	short-rib thoracic dysplasia 11 with or without polydactyly	1	1	DYNC2I2 (5)	0.04000	1.00000	1.559e-3	2.360e-3	19
Short rib dysplasia-polydactyly syndrome	short-rib thoracic dysplasia 16 with or without polydactyly	1	1	IFT52 (3)	0.04000	1.00000	1.559e-3	2.360e-3	19
Short rib dysplasia-polydactyly syndrome	short-rib thoracic dysplasia 17 with or without polydactyly	1	1	DYNLT2B (3)	0.04000	1.00000	1.559e-3	2.360e-3	19
Short rib dysplasia-polydactyly syndrome	short-rib thoracic dysplasia 19 with or without polydactyly	1	1	IFT81 (2)	0.04000	1.00000	1.559e-3	2.360e-3	19
Short rib dysplasia-polydactyly syndrome	short-rib thoracic dysplasia 8 with or without polydactyly	1	1	DYNC2I1 (5)	0.04000	1.00000	1.559e-3	2.360e-3	19
spermatogenic failure 38	Uterine polyp	1	1	ARMC2 (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Hyperaldosteronism	Steroid 11-beta-monooxygenase deficiency	1	1	CYP11B1 (5)	0.04000	1.00000	1.559e-3	2.360e-3	
Polyneuropathy	Sterol carrier protein 2 deficiency	1	1	SCP2 (5)	0.04000	1.00000	1.559e-3	2.360e-3	241
thrombocytopenia 4	Transient ischemic attack	1	1	CYCS (2)	0.04000	1.00000	1.559e-3	2.360e-3	
Biliary atresia	Heart valve prolapse	2	0	SPP1 (1), IL18 (1)	0.03390	0.06897	1.540e-3	2.360e-3	
Endometrial stromal sarcoma	Miller-dieker syndrome	1	1	YWHAE (2)	0.10000	0.20000	1.623e-3	2.445e-3	225
Endometrial stromal sarcoma	Weaver syndrome	1	1	SUZ12 (3)	0.10000	0.20000	1.623e-3	2.445e-3	
Ewing sarcoma	Neuropathy, congenital hypomyelinating	1	1	EGR2 (3)	0.10000	0.20000	1.623e-3	2.445e-3	
Bronchus cancer	Frontal lobe epilepsy	1	1	CHRNA4 (3)	0.10000	0.20000	1.623e-3	2.445e-3	
Bilateral microphthalmos	Vitamin a deficiency	1	1	RBP4 (2)	0.10000	0.20000	1.623e-3	2.445e-3	
Choanal atresia syndrome	Wiedemann-steiner syndrome	1	0	CHD7 (1)	0.10000	0.20000	1.623e-3	2.445e-3	
Night blindness, congenital stationary	TRPM1-related retinopathy	1	1	TRPM1 (4)	0.03846	1.00000	1.624e-3	2.445e-3	160
Spondyloepimetaphyseal dysplasia	Warburg-cinotti syndrome	1	1	DDR2 (6)	0.03846	1.00000	1.624e-3	2.445e-3	
Spondyloepimetaphyseal dysplasia	X-linked cerebral adrenoleukodystrophy	1	1	ABCD1 (3)	0.03846	1.00000	1.624e-3	2.445e-3	
Spondyloepimetaphyseal dysplasia	X-linked spondyloepimetaphyseal dysplasia	1	1	BGN (6)	0.03846	1.00000	1.624e-3	2.445e-3	
Spondyloepimetaphyseal dysplasia	X-linked thoracic aortic aneurysm	1	1	BGN (4)	0.03846	1.00000	1.624e-3	2.445e-3	
Short stature spectrum	Spondyloepimetaphyseal dysplasia	1	1	ACAN (6)	0.03846	1.00000	1.624e-3	2.445e-3	
Spondyloepimetaphyseal dysplasia	spondyloepimetaphyseal dysplasia with joint laxity, type 3	1	1	EXOC6B (5)	0.03846	1.00000	1.624e-3	2.445e-3	44
Spondyloepimetaphyseal dysplasia	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	1	1	DDR2 (5)	0.03846	1.00000	1.624e-3	2.445e-3	
Spondyloepimetaphyseal dysplasia	spondyloepimetaphyseal dysplasia, genevieve type	1	1	NANS (6)	0.03846	1.00000	1.624e-3	2.445e-3	44
Amelogenesis imperfecta	Tricho-dento-osseous syndrome	1	1	DLX3 (6)	0.03846	1.00000	1.624e-3	2.445e-3	
Chagas cardiomyopathy	Intracranial germ cell tumor	1	0	BAK1 (1)	0.03846	1.00000	1.624e-3	2.445e-3	
Amblyopia	krabbe disease	1	1	GALC (2)	0.03846	1.00000	1.624e-3	2.445e-3	
LAMA2-related muscular dystrophy	Polymicrogyria	1	1	LAMA2 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
LAMA5-related multisystemic syndrome	Polymicrogyria	1	1	LAMA5 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Amelogenesis imperfecta	lethal osteosclerotic bone dysplasia	1	1	FAM20C (2)	0.03846	1.00000	1.624e-3	2.445e-3	
lichtenstein-knorr syndrome	Ventricular remodeling	1	1	SLC9A1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
loeys-dietz syndrome 6	Ventricular remodeling	1	1	SMAD2 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Gallbladder neoplasms	Peters plus syndrome	1	1	B3GLCT (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Night blindness, congenital stationary	RDH5-related retinopathy	1	1	RDH5 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Night blindness, congenital stationary	retinitis pigmentosa 47	1	1	SAG (2)	0.03846	1.00000	1.624e-3	2.445e-3	160
Right hypoplastic heart syndrome	Ventricular remodeling	1	1	TBX20 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Night blindness, congenital stationary	RLBP1-related retinopathy	1	1	RLBP1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Night blindness, congenital stationary	NYX-related retinopathy	1	1	NYX (4)	0.03846	1.00000	1.624e-3	2.445e-3	160
oligodontia-cancer predisposition syndrome	Ventricular remodeling	1	1	AXIN2 (2)	0.03846	1.00000	1.624e-3	2.445e-3	372
Oocyte maturation defect	Partial corpus callosum agenesis	1	1	KPNA7 (5)	0.03846	1.00000	1.624e-3	2.445e-3	
OPA1-related optic atrophy with or without extraocular features	Ventricular remodeling	1	1	OPA1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Amblyopia	maple syrup urine disease type 1B	1	1	BCKDHB (2)	0.03846	1.00000	1.624e-3	2.445e-3	
meester-loeys syndrome	Spondyloepimetaphyseal dysplasia	1	1	BGN (4)	0.03846	1.00000	1.624e-3	2.445e-3	
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Polymicrogyria	1	1	CCND2 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Polymicrogyria	1	1	WDR62 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Anophthalmia/microphthalmia-esophageal atresia syndrome	nance-horan syndrome	1	1	NHS (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Amblyopia	Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment	1	1	SLC9A6 (3)	0.03846	1.00000	1.624e-3	2.445e-3	282
Amblyopia	Dysbiosis	1	1	TLR4 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Gallbladder neoplasms	1	1	UCHL1 (4)	0.03846	1.00000	1.624e-3	2.445e-3	312
Ehlers-Danlos syndrome, spondylocheirodysplastic type	Spondyloepimetaphyseal dysplasia	1	1	SLC39A13 (3)	0.03846	1.00000	1.624e-3	2.445e-3	
Amelogenesis imperfecta	Enamel-renal syndrome	1	1	FAM20A (6)	0.03846	1.00000	1.624e-3	2.445e-3	390
Anophthalmia/microphthalmia-esophageal atresia syndrome	Focal dermal hypoplasia	1	1	PORCN (7)	0.03846	1.00000	1.624e-3	2.445e-3	52
Hoxha-aliu syndrome	Spondyloepimetaphyseal dysplasia	1	1	ERI1 (3)	0.03846	1.00000	1.624e-3	2.445e-3	44
GPR179-related retinopathy	Night blindness, congenital stationary	1	1	GPR179 (4)	0.03846	1.00000	1.624e-3	2.445e-3	160
GRM6-related retinopathy	Night blindness, congenital stationary	1	1	GRM6 (4)	0.03846	1.00000	1.624e-3	2.445e-3	160
Anophthalmia/microphthalmia-esophageal atresia syndrome	Growth hormone deficiency with pituitary anomalies	1	1	HESX1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
HAND2 related congenital heart defect	Ventricular remodeling	1	1	HAND2 (2)	0.03846	1.00000	1.624e-3	2.445e-3	372
Beukes hip dysplasia	Spondyloepimetaphyseal dysplasia	1	1	UFSP2 (3)	0.03846	1.00000	1.624e-3	2.445e-3	
Bilateral frontoparietal polymicrogyria	Polymicrogyria	1	1	ADGRG1 (6)	0.03846	1.00000	1.624e-3	2.445e-3	
Bilateral parasagittal parieto-occipital polymicrogyria	Polymicrogyria	1	1	FIG4 (6)	0.03846	1.00000	1.624e-3	2.445e-3	
Bothnia retinal dystrophy	Night blindness, congenital stationary	1	1	RLBP1 (6)	0.03846	1.00000	1.624e-3	2.445e-3	
Boudin-mortier syndrome	Chagas cardiomyopathy	1	1	NPR3 (4)	0.03846	1.00000	1.624e-3	2.445e-3	
Amelogenesis imperfecta	Atrial myxoma	1	1	PRKAR1A (4)	0.03846	1.00000	1.624e-3	2.445e-3	
autosomal dominant macrothrombocytopenia	Oocyte maturation defect	1	1	TUBA4A (2)	0.03846	1.00000	1.624e-3	2.445e-3	
B3GALT6-congenital disorder of glycosylation	Spondyloepimetaphyseal dysplasia	1	1	B3GALT6 (7)	0.03846	1.00000	1.624e-3	2.445e-3	44
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Polymicrogyria	1	1	NSDHL (3)	0.03846	1.00000	1.624e-3	2.445e-3	
Congenital left-sided heart lesions	Mucosulfatidosis	1	1	SUMF1 (3)	0.03846	1.00000	1.624e-3	2.445e-3	
Congenital left-sided heart lesions	spermatogenic failure 19	1	1	CFAP43 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Congenital left-sided heart lesions	Paris-trousseau thrombocytopenia	1	1	FLI1 (3)	0.03846	1.00000	1.624e-3	2.445e-3	
Congenital left-sided heart lesions	Peripheral primitive neuroectodermal tumor	1	1	FLI1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
bleeding disorder, platelet-type, 21	Congenital left-sided heart lesions	1	1	FLI1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Congenital merosin-deficient muscular dystrophy	Polymicrogyria	1	1	LAMA2 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
cowden syndrome 6	Ventricular remodeling	1	1	AKT1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Deafness with cataract, intellectual disability, and polyneuropathy	Polymicrogyria	1	1	PSMC3 (4)	0.03846	1.00000	1.624e-3	2.445e-3	
Disorder of sex development	Gallbladder neoplasms	1	1	RXFP2 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Dominant hereditary optic atrophy	Ventricular remodeling	1	1	OPA1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Amelogenesis imperfecta	Carney complex, type 1	1	1	PRKAR1A (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Cerebellar ataxia with hearing loss	Ventricular remodeling	1	1	SLC9A1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Chagas cardiomyopathy	Cousin syndrome	1	1	TBX15 (3)	0.03846	1.00000	1.624e-3	2.445e-3	
Chagas cardiomyopathy	Pelviscapular dysplasia	1	1	TBX15 (5)	0.03846	1.00000	1.624e-3	2.445e-3	
Chagas cardiomyopathy	Neonatal anemia	1	1	SPTB (3)	0.03846	1.00000	1.624e-3	2.445e-3	271
Chagas cardiomyopathy	Perinatal hemolytic anemia	1	1	SPTB (2)	0.03846	1.00000	1.624e-3	2.445e-3	271
Amblyopia	Christianon syndrome	1	1	SLC9A6 (5)	0.03846	1.00000	1.624e-3	2.445e-3	282
Amblyopia	Christianson syndrome	1	1	SLC9A6 (2)	0.03846	1.00000	1.624e-3	2.445e-3	282
Chromosome 5q12 deletion syndrome	Gallbladder neoplasms	1	1	PDE4D (2)	0.03846	1.00000	1.624e-3	2.445e-3	
ACAN-related short stature spectrum	Spondyloepimetaphyseal dysplasia	1	1	ACAN (7)	0.03846	1.00000	1.624e-3	2.445e-3	
20p12.3 microdeletion syndrome	Amblyopia	1	1	BMP2 (3)	0.03846	1.00000	1.624e-3	2.445e-3	
amyotrophic lateral sclerosis type 11	Polymicrogyria	1	1	FIG4 (4)	0.03846	1.00000	1.624e-3	2.445e-3	
amyotrophic lateral sclerosis type 19	Gallbladder neoplasms	1	1	ERBB4 (2)	0.03846	1.00000	1.624e-3	2.445e-3	312
amyotrophic lateral sclerosis type 22	Oocyte maturation defect	1	1	TUBA4A (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Anomalous pulmonary venous 	Polymicrogyria	1	0	PSMC3 (1)	0.03846	1.00000	1.624e-3	2.445e-3	
Ck syndrome	Polymicrogyria	1	1	NSDHL (7)	0.03846	1.00000	1.624e-3	2.445e-3	
Amblyopia	CNGB1-related retinopathy	1	1	CNGB1 (2)	0.03846	1.00000	1.624e-3	2.445e-3	282
Complex partial epilepsy	Polymicrogyria	1	1	SCN3A (2)	0.03846	1.00000	1.624e-3	2.445e-3	
Auditory neuropathy	Hypomyelinating leukodystrophy	2	2	TUBB4A (4), ATP11A (4)	0.03333	0.06667	1.647e-3	2.480e-3	
Osteonecrosis	Williams syndrome	2	2	CLIP2 (3), GTF2IRD1 (4)	0.03226	0.08333	1.666e-3	2.507e-3	
Costello syndrome	Noonan syndrome-like disorder with loose anagen hair	1	1	SHOC2 (2)	0.06667	0.50000	1.688e-3	2.514e-3	49
Peho syndrome	Sensory neuropathy	1	1	KIF1A (2)	0.06667	0.50000	1.688e-3	2.514e-3	173
Essential thrombocythemia	Periapical periodontitis	1	1	FGF2 (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Byzanthine arch palate	Perisylvian polymicrogyria	1	0	NSDHL (1)	0.06667	0.50000	1.688e-3	2.514e-3	398
Basal ganglia disease	Hyperferritinemia	1	1	FTL (3)	0.06667	0.50000	1.688e-3	2.514e-3	
Hyperhomocysteinemia	Large cell carcinoma	1	1	PYCARD (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Congenital abnormalities	Xq27.3 q28 duplication syndrome	1	1	FMR1 (3)	0.06667	0.50000	1.688e-3	2.514e-3	
Congenital abnormalities	Townes-brocks syndrome	1	1	SALL1 (6)	0.06667	0.50000	1.688e-3	2.514e-3	
Post-operative myocardial infarction	Rheumatic disease	1	0	FHIT (1)	0.06667	0.50000	1.688e-3	2.514e-3	
Apolipoprotein a-i deficiency	Posterior cortical atrophy	1	1	ABCA1 (3)	0.06667	0.50000	1.688e-3	2.514e-3	
Parietal foramina	Posterior cortical atrophy	1	1	MSX2 (7)	0.06667	0.50000	1.688e-3	2.514e-3	108
Omphalocele exstrophy imperforate anus	Potocki-lupski syndrome	1	1	FLCN (3)	0.06667	0.50000	1.688e-3	2.514e-3	
Platelet disorder	qualitative platelet defect	1	1	TBXA2R (3)	0.06667	0.50000	1.688e-3	2.514e-3	
Genitourinary disease	Malunion fracture	1	0	BCAS3 (1)	0.06667	0.50000	1.688e-3	2.514e-3	
Gm1 gangliosidosis	Progressive intrahepatic cholestasis	1	1	GLB1 (6)	0.06667	0.50000	1.688e-3	2.514e-3	
Growth hormone insensitivity, partial	Pseudohypoparathyroidism	1	1	GHSR (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Essential thrombocythemia	Hemorrhagic stroke	1	1	PDGFA (3)	0.06667	0.50000	1.688e-3	2.514e-3	
Hereditary folate malabsorption	Hyperhomocysteinemia	1	1	SLC46A1 (4)	0.06667	0.50000	1.688e-3	2.514e-3	
Giant cell glioblastoma	Mountain sickness	1	1	TACC1 (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Dysautonomia	Pruritus	1	1	TPSAB1 (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Eosinophilic leukemia	Thyroid gland neoplasms	1	1	PDGFRA (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Maturity-onset diabetes of the young	1	1	HNF4A (6)	0.06667	0.50000	1.688e-3	2.514e-3	
Agammaglobulinemia	Combined immunodeficiency with facio-oculo-skeletal anomalies	1	1	PIK3CD (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Congenital leukocyte adherence deficiency	Platelet disorder	1	1	FERMT3 (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Cortisone reductase deficiency	Omphalocele exstrophy imperforate anus	1	1	HSD11B1 (5)	0.06667	0.50000	1.688e-3	2.514e-3	
Benign recurrent intrahepatic cholestasis	Pruritus	1	1	ABCB11 (4)	0.06667	0.50000	1.688e-3	2.514e-3	
Birt-hogg-dube syndrome	Omphalocele exstrophy imperforate anus	1	1	FLCN (6)	0.06667	0.50000	1.688e-3	2.514e-3	
Blepharitis	Oculocutaneous albinism	1	1	MC1R (5)	0.06667	0.50000	1.688e-3	2.514e-3	
Breast fibrocystic disease	Vertebral column disorder	1	0	CSMD1 (1)	0.06667	0.50000	1.688e-3	2.514e-3	
17p11.2 microduplication syndrome	Omphalocele exstrophy imperforate anus	1	1	FLCN (2)	0.06667	0.50000	1.688e-3	2.514e-3	
1p36 deletion syndrome	Dyssegmental dysplasia	1	1	HSPG2 (4)	0.06667	0.50000	1.688e-3	2.514e-3	146
Adrenoleukodystrophy	Congestive ophthalmopathy	1	1	SCD (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Anaptoglobinemia	Optic neuritis	1	1	ATP7B (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Constitutional mismatch repair deficiency	Cystic leukoencephalopathy	1	1	RNASET2 (4)	0.06667	0.50000	1.688e-3	2.514e-3	39
Discoid lupus erythematosus	Motor skills disorder	1	1	OGG1 (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Discoid lupus erythematosus	Senile cataract	1	0	OGG1 (1)	0.06667	0.50000	1.688e-3	2.514e-3	
Dna repair-deficiency disorders	Senile cataract	1	1	WRN (2)	0.06667	0.50000	1.688e-3	2.514e-3	
Cerebral folate deficiency	Congenital abnormalities	1	1	FOLR1 (3)	0.06667	0.50000	1.688e-3	2.514e-3	
Chronic progressive external ophthalmoplegia	Progressive external ophthalmoplegia	1	1	RRM2B (4)	0.06667	0.50000	1.688e-3	2.514e-3	
Cardiac arrest	Cardiogenetic disease	1	1	CACNB2 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cataract-microcornea-metabolic syndrome	Congenital ocular coloboma	1	1	SLC16A12 (2)	0.03704	1.00000	1.689e-3	2.514e-3	25
Anhedonia	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	1	1	ATP1A3 (5)	0.03704	1.00000	1.689e-3	2.514e-3	196
cerebroretinal microangiopathy with calcifications and cysts 1	Dyskeratosis congenita	1	1	CTC1 (4)	0.03704	1.00000	1.689e-3	2.514e-3	
Christianon syndrome	Leukodystrophy	1	1	SLC9A6 (5)	0.03704	1.00000	1.689e-3	2.514e-3	
Christianson syndrome	Leukodystrophy	1	1	SLC9A6 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Chromosome 2p16.3 deletion syndrome	Language development disorders	1	1	NRXN1 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Congenital plasminogen activator inhibitor deficiency type 1	Urethral obstruction	1	1	SERPINE1 (5)	0.03704	1.00000	1.689e-3	2.514e-3	
congenital plasminogen activator inhibitor type 1 deficiency	Urethral obstruction	1	1	SERPINE1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Continuous spike and wave during sleep syndrome	Language development disorders	1	1	GRIN2A (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Coronary vessel anomalies	1	1	GCLC (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cortical dysplasia-focal epilepsy syndrome	Language development disorders	1	1	CNTNAP2 (4)	0.03704	1.00000	1.689e-3	2.514e-3	
cranioectodermal dysplasia 1	Hydrocephalus	1	1	IFT122 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
craniosynostosis 4	Language development disorders	1	1	ERF (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Creutzfeldt-jakob disease	SRD5A3-congenital disorder of glycosylation	1	1	SRD5A3 (3)	0.03704	1.00000	1.689e-3	2.514e-3	318
ciliary dyskinesia, primary, 40	Hydrocephalus	1	1	DNAH9 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
cobblestone lissencephaly without muscular or ocular involvement	Congenital ocular coloboma	1	1	LAMB1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Coloboma, cleft lip-palate and mental retardation syndrome	Congenital ocular coloboma	1	0	YAP1 (1)	0.03704	1.00000	1.689e-3	2.514e-3	
colobomatous microphthalmia-rhizomelic dysplasia syndrome	Congenital ocular coloboma	1	1	MAB21L2 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Arginase deficiency	1	1	ARG1 (5)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Argininosuccinic aciduria	1	1	ASL (7)	0.03704	1.00000	1.689e-3	2.514e-3	
ATF6-related retinopathy	Creutzfeldt-jakob disease	1	1	ATF6 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Anhedonia	ATP1A3-associated neurological disorder	1	1	ATP1A3 (2)	0.03704	1.00000	1.689e-3	2.514e-3	196
Arthritis	Autoinflammation and autoimmunity, systemic, with immune dysregulation 1	1	1	COPA (2)	0.03704	1.00000	1.689e-3	2.514e-3	
baraitser-winter syndrome 2	Congenital ocular coloboma	1	1	ACTG1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
bardet-biedl syndrome 16	Cystic kidney disease	1	1	SDCCAG8 (2)	0.03704	1.00000	1.689e-3	2.514e-3	8
Anhedonia	Behavior disorders	1	0	SLC6A4 (1)	0.03704	1.00000	1.689e-3	2.514e-3	
Bradycardia	Cyp2d6 deficiency	1	1	CYP2D6 (2)	0.03704	1.00000	1.689e-3	2.514e-3	66
Amino acid metabolism disorder	Cystathioninuria	1	1	CTH (6)	0.03704	1.00000	1.689e-3	2.514e-3	112
Deafness with congenital and adult-onset progressive leukodystrophy	Leukodystrophy	1	1	KARS1 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Developmental delay due to metabolic enzyme deficiency	1	1	ALDH6A1 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Developmental delay with dysmorphic facies and brain anomalies	Leukodystrophy	1	1	U2AF2 (4)	0.03704	1.00000	1.689e-3	2.514e-3	59
developmental delay with short stature, dysmorphic facial features, and sparse hair	Hydrocephalus	1	1	DPH1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Dihydropyrimidine dehydrogenase deficiency	Language development disorders	1	1	DPYD (6)	0.03704	1.00000	1.689e-3	2.514e-3	
Cardiac arrest	dilated cardiomyopathy 1BB	1	1	DSG2 (2)	0.03704	1.00000	1.689e-3	2.514e-3	3
Dkc1-related disorder	Dyskeratosis congenita	1	1	DKC1 (7)	0.03704	1.00000	1.689e-3	2.514e-3	
Cardiac arrest	duane retraction syndrome 2	1	1	CHN1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Beta-hexosaminidase a deficiency	Leukodystrophy	1	0	HEXA (1)	0.03704	1.00000	1.689e-3	2.514e-3	
Biliary-renal-neuro-skeletal syndrome	Hydrocephalus	1	1	IFT56 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Anhedonia	Capos syndrome	1	1	ATP1A3 (2)	0.03704	1.00000	1.689e-3	2.514e-3	196
1p21.3 microdeletion syndrome	Language development disorders	1	1	DPYD (3)	0.03704	1.00000	1.689e-3	2.514e-3	
3-hydroxy-3-methylglutaric aciduria	Amino acid metabolism disorder	1	1	HMGCL (2)	0.03704	1.00000	1.689e-3	2.514e-3	
ACD-related short telomere syndrome	Dyskeratosis congenita	1	1	ACD (6)	0.03704	1.00000	1.689e-3	2.514e-3	
AIPL1-related retinopathy	Dyskinesia	1	1	AIPL1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
ALG6-congenital disorder of glycosylation 1C	Cystic kidney disease	1	1	ALG6 (2)	0.03704	1.00000	1.689e-3	2.514e-3	8
Alstrom syndrome	Leukodystrophy	1	1	ALMS1 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Aminoaciduria	Urethral obstruction	1	1	CLTRN (2)	0.03704	1.00000	1.689e-3	2.514e-3	80
amyotrophic lateral sclerosis type 19	Language development disorders	1	1	ERBB4 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
amyotrophic lateral sclerosis, susceptibility to, 25	Dyskinesia	1	1	KIF5A (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Arthritis	Dysbiosis	1	1	TLR4 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskeratosis congenita	dyskeratosis congenita, autosomal recessive 2	1	1	NHP2 (6)	0.03704	1.00000	1.689e-3	2.514e-3	77
Dyskeratosis congenita	dyskeratosis congenita, autosomal recessive 3	1	1	WRAP53 (8)	0.03704	1.00000	1.689e-3	2.514e-3	77
Dyskeratosis congenita	dyskeratosis congenita, x-linked	1	1	DKC1 (7)	0.03704	1.00000	1.689e-3	2.514e-3	
Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome	Leukodystrophy	1	0	KARS1 (1)	0.03704	1.00000	1.689e-3	2.514e-3	
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome	Leukodystrophy	1	1	KARS1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Anhedonia	episodic ataxia type 6	1	1	SLC1A3 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cystic kidney disease	FAT4-related neurodevelopmental disorder	1	1	FAT4 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Focal epilepsy with speech disorder and impaired intellectual development	Language development disorders	1	1	GRIN2A (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskeratosis congenita	Short telomere syndrome	1	1	ACD (5)	0.03704	1.00000	1.689e-3	2.514e-3	
Cardiac arrest	sick sinus syndrome 2, autosomal dominant	1	1	HCN4 (2)	0.03704	1.00000	1.689e-3	2.514e-3	3
Hydrocephalus	SMARCC1-associated developmental dysgenesis syndrome	1	1	SMARCC1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	298
spondylometaphyseal dysplasia, 'corner fracture' type	Urethral obstruction	1	1	FN1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Leukodystrophy	Sterol carrier protein 2 deficiency	1	1	SCP2 (4)	0.03704	1.00000	1.689e-3	2.514e-3	
Congenital ocular coloboma	Thauvin-robinet-faivre syndrome	1	1	FIBP (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskinesia	Intellectual developmental disorder speech dysmorphic t-cell	1	1	BCL11B (5)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskinesia	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	1	1	BCL11B (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cardiac arrest	intrinsic cardiomyopathy	1	1	PLN (2)	0.03704	1.00000	1.689e-3	2.514e-3	3
Amino acid metabolism disorder	isovaleric acidemia	1	1	IVD (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cystic kidney disease	joubert syndrome 24	1	1	TCTN2 (2)	0.03704	1.00000	1.689e-3	2.514e-3	8
Congenital ocular coloboma	Juvenile myoclonic epilepsy	1	1	CILK1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
krabbe disease	Leukodystrophy	1	1	GALC (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Leukodystrophy	leukodystrophy, hypomyelinating, 18	1	1	DEGS1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	59
Leukodystrophy	leukodystrophy, hypomyelinating, 25	1	1	TMEM163 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cardiac arrest	lissencephaly 10	1	1	CEP85L (2)	0.03704	1.00000	1.689e-3	2.514e-3	3
Amino acid metabolism disorder	lysinuric protein intolerance	1	1	SLC7A7 (3)	0.03704	1.00000	1.689e-3	2.514e-3	112
Bradycardia	Neurogenic bladder	1	0	CHRM2 (1)	0.03704	1.00000	1.689e-3	2.514e-3	66
Congenital ocular coloboma	Neurooculocardio-genitourinary syndrome	1	1	WDR37 (6)	0.03704	1.00000	1.689e-3	2.514e-3	25
Congenital ocular coloboma	Orbital disease	1	1	RARB (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	ornithine translocase deficiency	1	1	SLC25A15 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Hmg-coa lyase deficiency	1	1	HMGCL (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Hydroxymethylglutaryl-coa lyase deficiency	1	1	HMGCL (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	hyperammonemia due to N-acetylglutamate synthase deficiency	1	1	NAGS (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	1	1	AHCY (3)	0.03704	1.00000	1.689e-3	2.514e-3	112
Amino acid metabolism disorder	hyperprolinemia type 1	1	1	PRODH (3)	0.03704	1.00000	1.689e-3	2.514e-3	
hypomyelinating leukodystrophy 9	Leukodystrophy	1	1	RARS1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	59
Amino acid metabolism disorder	immunodeficiency, common variable, 2	1	1	TNFRSF13B (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskinesia	inherited neurodegenerative disorder	1	1	KIF5A (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskinesia	Intellectual developmental disorder dysmorphic skeletal hair	1	1	BCL11B (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Intellectual developmental disorder hemoglobin persistence	Language development disorders	1	1	BCL11A (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Anhedonia	Intellectual developmental disorder hypotonia spastic sleep	1	1	ANK3 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Congenital ocular coloboma	Uveal coloboma-cleft lip and palate-intellectual disability	1	1	YAP1 (4)	0.03704	1.00000	1.689e-3	2.514e-3	
Leukodystrophy	Wiedemann-rautenstrauch syndrome	1	1	POLR3A (3)	0.03704	1.00000	1.689e-3	2.514e-3	59
Amino acid metabolism disorder	xeroderma pigmentosum group C	1	1	XPC (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskeratosis congenita	MECOM-associated syndrome	1	1	MECOM (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Hydrocephalus	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	1	1	CCND2 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	methionine adenosyltransferase deficiency	1	1	MAT1A (3)	0.03704	1.00000	1.689e-3	2.514e-3	112
Amino acid metabolism disorder	methylmalonate semialdehyde dehydrogenase deficiency	1	1	ALDH6A1 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Congenital ocular coloboma	microphthalmia, syndromic 12	1	1	RARB (2)	0.03704	1.00000	1.689e-3	2.514e-3	
multisystemic smooth muscle dysfunction syndrome	Urethral obstruction	1	1	ACTA2 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Hydrocephalus	myopathy caused by variation in POMGNT1	1	1	POMGNT1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cystic kidney disease	nephronophthisis 16	1	1	ANKS6 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Cystic kidney disease	nephronophthisis 2	1	1	INVS (2)	0.03704	1.00000	1.689e-3	2.514e-3	8
Leukodystrophy	Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment	1	1	SLC9A6 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskinesia	Periventricular heterotopia with microcephaly, autosomal recessive	1	1	ARFGEF2 (5)	0.03704	1.00000	1.689e-3	2.514e-3	
Hydrocephalus	Periventricular heterotopia with microcephaly, autosomal recessive	1	1	ARFGEF2 (4)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskinesia	Periventricular laminar heterotopia	1	1	ARFGEF2 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Hydrocephalus	Periventricular laminar heterotopia	1	0	ARFGEF2 (1)	0.03704	1.00000	1.689e-3	2.514e-3	
Arthritis	phelan-mcdermid syndrome	1	1	SHANK3 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Language development disorders	phelan-mcdermid syndrome	1	1	SHANK3 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Phosphoserine phosphatase deficiency	1	1	PSPH (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Leukodystrophy	POLR3A-related disorder	1	1	POLR3A (2)	0.03704	1.00000	1.689e-3	2.514e-3	59
Leukodystrophy	POLR3B-related disorder	1	1	POLR3B (2)	0.03704	1.00000	1.689e-3	2.514e-3	59
Hydrocephalus	primary ciliary dyskinesia 5	1	1	HYDIN (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Arthritis	Primary immunodeficiency with defective natural killer cell cytotoxicity	1	1	FCGR3A (4)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskeratosis congenita	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	1	1	NOP10 (6)	0.03704	1.00000	1.689e-3	2.514e-3	
Dyskeratosis congenita	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	1	1	PARN (7)	0.03704	1.00000	1.689e-3	2.514e-3	77
Dyskeratosis congenita	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	1	1	ZCCHC8 (2)	0.03704	1.00000	1.689e-3	2.514e-3	77
Amino acid metabolism disorder	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	1	1	EIF2AK4 (3)	0.03704	1.00000	1.689e-3	2.514e-3	
Cardiac arrest	Repolarization syndrome	1	0	CACNB2 (1)	0.03704	1.00000	1.689e-3	2.514e-3	
Bradycardia	Retractile testis	1	1	GNAI2 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Arthritis	giant axonal neuropathy 1	1	1	GAN (2)	0.03704	1.00000	1.689e-3	2.514e-3	
glomerulopathy with fibronectin deposits 2	Urethral obstruction	1	1	FN1 (2)	0.03704	1.00000	1.689e-3	2.514e-3	
glutaric acidemia type 3	Language development disorders	1	1	SUGCT (2)	0.03704	1.00000	1.689e-3	2.514e-3	
Amino acid metabolism disorder	Guanidinoacetate methyltransferase deficiency	1	1	GAMT (4)	0.03704	1.00000	1.689e-3	2.514e-3	
Imerslund-grasbeck syndrome	Vitamin deficiency disorder	1	1	CUBN (6)	0.08333	0.33333	1.753e-3	2.593e-3	100
Dystonia musculorum deformans	Early-onset generalized limb-onset dystonia	1	1	TOR1A (5)	0.08333	0.33333	1.753e-3	2.593e-3	172
Early-onset generalized limb-onset dystonia	Genetic torsion dystonia	1	1	TOR1A (4)	0.08333	0.33333	1.753e-3	2.593e-3	172
Benign mucous membrane pemphigoid with ocular involvement	Follicular lymphoma	1	1	HLA-DRB1 (2)	0.08333	0.33333	1.753e-3	2.593e-3	
Bouillaud’s disease	Follicular lymphoma	1	1	HLA-DRB1 (2)	0.08333	0.33333	1.753e-3	2.593e-3	
Sitosterolemia	Tubulointerstitial kidney disease	1	1	ABCG5 (7)	0.08333	0.33333	1.753e-3	2.593e-3	
Ellis-van creveld syndrome	Sitosterolemia	1	1	DYNC2LI1 (3)	0.08333	0.33333	1.753e-3	2.593e-3	
Three-vessel coronary artery disease	Thromboembolic pulmonary hypertension	1	1	ABO (2)	0.08333	0.33333	1.753e-3	2.593e-3	
neurometabolic disorder due to serine deficiency	Osteomyelitis	1	1	PHGDH (2)	0.08333	0.33333	1.753e-3	2.593e-3	
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Small cell carcinoma	1	1	MTOR (2)	0.08333	0.33333	1.753e-3	2.593e-3	
progressive myoclonus epilepsy	Right atrial isomerism	1	1	CERS1 (2)	0.08333	0.33333	1.753e-3	2.593e-3	
Chondrosarcoma	Trichorhinophalangeal syndrome	1	1	EXT1 (5)	0.08333	0.33333	1.753e-3	2.593e-3	
Angiokeratoma	Fabry disease	1	1	GLA (7)	0.08333	0.33333	1.753e-3	2.593e-3	
Circadian rhythm sleep disorder	Splenic disease	1	0	CNTN5 (1)	0.08333	0.33333	1.753e-3	2.593e-3	
Childhood-onset epilepsy syndrome	Nocturnal frontal lobe epilepsy	1	1	KCNT1 (6)	0.08333	0.33333	1.753e-3	2.593e-3	423
Childhood-onset epilepsy syndrome	Epilepsy of infancy with migrating focal seizures	1	1	KCNT1 (3)	0.08333	0.33333	1.753e-3	2.593e-3	
Childhood-onset epilepsy syndrome	Malignant migrating partial seizures of infancy	1	1	KCNT1 (2)	0.08333	0.33333	1.753e-3	2.593e-3	
Corneal ulcer	Hennekam syndrome	1	1	CCBE1 (6)	0.08333	0.33333	1.753e-3	2.593e-3	
Distal renal tubular acidosis	Hereditary xerocytosis	1	1	SLC4A1 (6)	0.08333	0.33333	1.753e-3	2.593e-3	431
Distal renal tubular acidosis	Xerocytosis	1	1	SLC4A1 (6)	0.08333	0.33333	1.753e-3	2.593e-3	431
Distal renal tubular acidosis	Hennekam syndrome	1	1	CCBE1 (5)	0.08333	0.33333	1.753e-3	2.593e-3	
Cortical development malformation	Dicarboxylic aminoaciduria	1	1	SLC1A1 (6)	0.03571	1.00000	1.753e-3	2.593e-3	
Cortical development malformation	Dicarboxylicaminoaciduria	1	1	SLC1A1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Cervicitis	Sezary syndrome	1	1	IL32 (2)	0.03571	1.00000	1.753e-3	2.593e-3	214
Chromosome 16p13.3 deletion syndrome	Sezary syndrome	1	1	CREBBP (2)	0.03571	1.00000	1.753e-3	2.593e-3	
AKT2-related familial partial lipodystrophy	Hypoglycemia	1	1	AKT2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
ALG11-congenital disorder of glycosylation	Hepatolenticular degeneration	1	1	ALG11 (2)	0.03571	1.00000	1.753e-3	2.593e-3	43
Alpha-mannosidosis	Methylmalonic acidemia	1	1	MAN2B1 (4)	0.03571	1.00000	1.753e-3	2.593e-3	198
ciliary dyskinesia, primary, 45	Teratozoospermia	1	1	TTC12 (2)	0.03571	1.00000	1.753e-3	2.593e-3	11
ciliary dyskinesia, primary, 47, and lissencephaly	Rhabdomyosarcoma	1	1	TP73 (2)	0.03571	1.00000	1.753e-3	2.593e-3	39
Cobalamin metabolism disorder	Methylmalonic acidemia	1	1	MMADHC (6)	0.03571	1.00000	1.753e-3	2.593e-3	
Coloboma, cleft lip-palate and mental retardation syndrome	Rhabdomyosarcoma	1	1	YAP1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Combined malonic and methylmalonic acidemia	Methylmalonic acidemia	1	1	ACSF3 (6)	0.03571	1.00000	1.753e-3	2.593e-3	
Combined malonic and methylmalonic aciduria	Methylmalonic acidemia	1	1	ACSF3 (3)	0.03571	1.00000	1.753e-3	2.593e-3	
complex cortical dysplasia with other brain malformations 2	Cortical development malformation	1	1	KIF5C (2)	0.03571	1.00000	1.753e-3	2.593e-3	144
Congenital hypoplasia of penis	Cortical development malformation	1	0	PHF6 (1)	0.03571	1.00000	1.753e-3	2.593e-3	
congenital myopathy with myasthenic-like onset	Rhabdomyosarcoma	1	1	PAX7 (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Hepatolenticular degeneration	1	1	PPP3CA (4)	0.03571	1.00000	1.753e-3	2.593e-3	
Benta disease	Sezary syndrome	1	1	CARD11 (5)	0.03571	1.00000	1.753e-3	2.593e-3	
Acro-dermo-ungual-lacrimal-tooth syndrome	Bladder exstrophy and epispadias complex	1	1	TP63 (2)	0.03571	1.00000	1.753e-3	2.593e-3	30
Ankyloblepharon-ectodermal defects-cleft lip/palate	Bladder exstrophy and epispadias complex	1	1	TP63 (5)	0.03571	1.00000	1.753e-3	2.593e-3	30
Borjeson-forssman-lehmann syndrome	Cortical development malformation	1	1	PHF6 (7)	0.03571	1.00000	1.753e-3	2.593e-3	
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	Hepatolenticular degeneration	1	1	SASH1 (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Teratozoospermia	TTLL5-related retinopathy	1	1	TTLL5 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Rhabdomyosarcoma	Uveal coloboma-cleft lip and palate-intellectual disability	1	1	YAP1 (5)	0.03571	1.00000	1.753e-3	2.593e-3	
Cortical development malformation	X-linked dominant chondrodysplasia chassaing-lacombe type	1	1	HDAC6 (4)	0.03571	1.00000	1.753e-3	2.593e-3	
Teratozoospermia	X-linked intellectual disability, Cabezas type	1	1	CUL4B (2)	0.03571	1.00000	1.753e-3	2.593e-3	11
Sezary syndrome	X-linked severe combined immunodeficiency	1	1	IL2RG (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Bladder exstrophy and epispadias complex	Schopf-schulz-passarge syndrome	1	1	WNT10A (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Rhabdomyosarcoma	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	1	1	SETD2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Rhabdomyosarcoma	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	1	1	SETD2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
severe combined immunodeficiency due to CARD11 deficiency	Sezary syndrome	1	1	CARD11 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Sezary syndrome	snijders blok-campeau syndrome	1	1	CHD3 (2)	0.03571	1.00000	1.753e-3	2.593e-3	214
spermatogenic failure 18	Teratozoospermia	1	1	DNAH1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	11
spermatogenic failure 38	Teratozoospermia	1	1	ARMC2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	11
spermatogenic failure 56	Teratozoospermia	1	1	DNAH10 (2)	0.03571	1.00000	1.753e-3	2.593e-3	11
Cortical development malformation	spermatogenic failure, x-linked, 3	1	1	CFAP47 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Hashimoto disease	spinocerebellar ataxia type 2	1	1	ATXN2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
spinocerebellar ataxia, autosomal recessive 25	Teratozoospermia	1	1	ATG5 (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Hashimoto disease	Striatal neurodegeneration	1	1	PDE8B (4)	0.03571	1.00000	1.753e-3	2.593e-3	
Sezary syndrome	T-B+ severe combined immunodeficiency due to gamma chain deficiency	1	1	IL2RG (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Bladder exstrophy and epispadias complex	tetraamelia syndrome 1	1	1	WNT3 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Methylmalonic acidemia	thrombocytopenia 4	1	1	CYCS (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Hashimoto disease	hyper-IgE recurrent infection syndrome 5, autosomal recessive	1	1	IL6R (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Hyperinsulinism-hyperammonemia syndrome	Hypoglycemia	1	1	GLUD1 (5)	0.03571	1.00000	1.753e-3	2.593e-3	35
Hepatolenticular degeneration	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	1	1	AHCY (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Hypoglycemia	hypoinsulinemic hypoglycemia and body hemihypertrophy	1	1	AKT2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
IL21-related infantile inflammatory bowel disease	Progressive supranuclear palsy	1	1	IL21 (2)	0.03571	1.00000	1.753e-3	2.593e-3	357
immune dysregulation, autoimmunity, and autoinflammation	Sezary syndrome	1	1	PLCG1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
immunodeficiency 11b with atopic dermatitis	Sezary syndrome	1	1	CARD11 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
immunodeficiency 123 with hpv-related verrucosis	Sezary syndrome	1	1	CD28 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Hashimoto disease	immunodeficiency 60	1	1	BACH2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
inborn disorder of cobalamin metabolism and transport	Methylmalonic acidemia	1	1	MMADHC (7)	0.03571	1.00000	1.753e-3	2.593e-3	
Hashimoto disease	Interleukin 6 quantitative trait	1	1	IL6R (4)	0.03571	1.00000	1.753e-3	2.593e-3	
Bladder exstrophy and epispadias complex	gapo syndrome	1	1	ANTXR1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
glycogen storage disease I	Hypoglycemia	1	1	G6PC1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	35
Cortical development malformation	goldberg-shprintzen syndrome	1	1	KIFBP (2)	0.03571	1.00000	1.753e-3	2.593e-3	144
Aneurysm	Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	1	1	ZPR1 (4)	0.03571	1.00000	1.753e-3	2.593e-3	
Bladder exstrophy and epispadias complex	Growth retardation, alopecia, pseudoanodontia and optic atrophy	1	1	ANTXR1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Dyschromatosis	Hepatolenticular degeneration	1	0	SASH1 (1)	0.03571	1.00000	1.753e-3	2.593e-3	
Bladder exstrophy and epispadias complex	ectodermal dysplasia WNT10A related	1	1	WNT10A (2)	0.03571	1.00000	1.753e-3	2.593e-3	
primary ciliary dyskinesia 5	Teratozoospermia	1	1	HYDIN (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Middle ear cholesteatoma	Progressive supranuclear palsy	1	1	IL2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Progressive supranuclear palsy	Wolcott-rallison syndrome	1	1	EIF2AK3 (5)	0.03571	1.00000	1.753e-3	2.593e-3	357
Bladder exstrophy and epispadias complex	RAB23-related Carpenter syndrome	1	1	RAB23 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Ruijs-aalfs syndrome	Teratozoospermia	1	1	SPRTN (3)	0.03571	1.00000	1.753e-3	2.593e-3	11
nijmegen breakage syndrome	Rhabdomyosarcoma	1	1	NBN (2)	0.03571	1.00000	1.753e-3	2.593e-3	39
Parkinson-dementia syndrome	Progressive supranuclear palsy	1	1	MAPT (7)	0.03571	1.00000	1.753e-3	2.593e-3	
Methylmalonic acidemia	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	1	1	MCEE (5)	0.03571	1.00000	1.753e-3	2.593e-3	198
Methylmalonic acidemia	methylmalonic acidemia due to transcobalamin receptor defect	1	1	CD320 (7)	0.03571	1.00000	1.753e-3	2.593e-3	
Methylmalonic acidemia	methylmalonic acidemia with homocystinuria, type cblJ	1	1	ABCD4 (7)	0.03571	1.00000	1.753e-3	2.593e-3	198
Methylmalonic acidemia	methylmalonic aciduria and homocystinuria type cblC	1	1	MMACHC (3)	0.03571	1.00000	1.753e-3	2.593e-3	198
Methylmalonic acidemia	methylmalonic aciduria and homocystinuria type cblF	1	1	LMBRD1 (7)	0.03571	1.00000	1.753e-3	2.593e-3	
Methylmalonic acidemia	methylmalonic aciduria, cblA type	1	1	MMAA (7)	0.03571	1.00000	1.753e-3	2.593e-3	
Methylmalonic acidemia	methylmalonic aciduria, cblb type	1	1	MMAB (7)	0.03571	1.00000	1.753e-3	2.593e-3	
Cortical development malformation	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	1	1	WDR62 (3)	0.03571	1.00000	1.753e-3	2.593e-3	
microphthalmia, syndromic 2	Rhabdomyosarcoma	1	1	BCOR (2)	0.03571	1.00000	1.753e-3	2.593e-3	
mosaic variegated aneuploidy syndrome 1	Rhabdomyosarcoma	1	1	BUB1B (3)	0.03571	1.00000	1.753e-3	2.593e-3	
Multiple epiphyseal dysplasia with early-onset diabetes mellitus	Progressive supranuclear palsy	1	1	EIF2AK3 (3)	0.03571	1.00000	1.753e-3	2.593e-3	357
Aneurysm	multisystemic smooth muscle dysfunction syndrome	1	1	ACTA2 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Aneurysm	neonatal/infantile epilepsy syndrome	1	1	KCNH5 (2)	0.03571	1.00000	1.753e-3	2.593e-3	50
Aneurysm	nephrotic syndrome, type 3	1	1	PLCE1 (2)	0.03571	1.00000	1.753e-3	2.593e-3	
Chiari-frommel syndrome	Myoclonic dystonia	1	0	DRD2 (1)	0.09091	0.25000	1.817e-3	2.662e-3	118
Branchiootorenal syndrome	Hypercholanemia	1	1	TJP2 (3)	0.09091	0.25000	1.817e-3	2.662e-3	
Hepatic veno occlusive disease	Variegate porphyria	1	0	HFE (1)	0.09091	0.25000	1.817e-3	2.662e-3	251
Anodontia	Wolf-hirschhorn syndrome	1	1	MSX1 (2)	0.09091	0.25000	1.817e-3	2.662e-3	205
Carney complex	Skeletal muscle disorder	1	1	SDHA (2)	0.09091	0.25000	1.817e-3	2.662e-3	78
hereditary pheochromocytoma-paraganglioma	Skeletal muscle disorder	1	1	SDHA (2)	0.09091	0.25000	1.817e-3	2.662e-3	78
Chiari-frommel syndrome	Male pseudohypopituitarism	1	0	LHB (1)	0.09091	0.25000	1.817e-3	2.662e-3	
Micropenis	Prostatic hyperplasia	1	1	SRD5A2 (2)	0.09091	0.25000	1.817e-3	2.662e-3	
Prostatic hyperplasia	Xanthinuria	1	1	SRD5A2 (2)	0.09091	0.25000	1.817e-3	2.662e-3	
Bone marrow diseases	Cerebellar diseases	1	1	TINF2 (2)	0.09091	0.25000	1.817e-3	2.662e-3	345
Bundle branch block	Cerebral atrophy	1	1	SETBP1 (2)	0.09091	0.25000	1.817e-3	2.662e-3	
Adrenal gland neoplasms	Corneal edema	1	0	TCF4 (1)	0.09091	0.25000	1.817e-3	2.662e-3	283
Anaphylaxis	Bile duct calculus	1	1	ASPG (2)	0.09091	0.25000	1.817e-3	2.662e-3	
Arima syndrome	Congenital cystic kidney disease	1	0	TMEM231 (1)	0.09091	0.25000	1.817e-3	2.662e-3	8
Cholangitis	Chylomicron retention disease	1	0	DCDC2 (1)	0.06250	0.50000	1.818e-3	2.662e-3	
Coats plus syndrome	Metabolic bone disorder	1	1	CTC1 (3)	0.06250	0.50000	1.818e-3	2.662e-3	
Cleft palate and bilateral cleft lip	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	1	1	PIGL (2)	0.06250	0.50000	1.818e-3	2.662e-3	
Congenital bilateral absence of vas deferens	Spermatogenic failure, y-linked	1	1	CFTR (5)	0.06250	0.50000	1.818e-3	2.662e-3	
Anterior segment mesenchymal dysgenesis	Congenital cataract microcornea with corneal opacity	1	1	PXDN (3)	0.06250	0.50000	1.818e-3	2.662e-3	
Blepharitis	Rosacea	1	0	MC1R (1)	0.06250	0.50000	1.818e-3	2.662e-3	1
Blepharitis	Sebaceous gland disease	1	0	MC1R (1)	0.06250	0.50000	1.818e-3	2.662e-3	
Buruli ulcer	Lymphoproliferative syndrome	1	1	SLC11A1 (3)	0.06250	0.50000	1.818e-3	2.662e-3	
Bicuspid aortic valve	Diffuse palmoplantar keratoderma	1	1	DSG1 (2)	0.06250	0.50000	1.818e-3	2.662e-3	
Donnai-barrow syndrome	Metabolic bone disorder	1	1	LRP2 (5)	0.06250	0.50000	1.818e-3	2.662e-3	
Carnitine acetyltransferase deficiency	Neurodegeneration with brain iron accumulation	1	1	CRAT (4)	0.06250	0.50000	1.818e-3	2.662e-3	
Anterior segment mesenchymal dysgenesis	Chromosome 1q21.1 deletion syndrome	1	1	GJA8 (4)	0.06250	0.50000	1.818e-3	2.662e-3	
Anaplasia	Cholangitis	1	1	HIF1A (2)	0.06250	0.50000	1.818e-3	2.662e-3	
Autoinflammatory disease, familial, behcet-like 3	Endocrine system disease	1	1	RELA (3)	0.06250	0.50000	1.818e-3	2.662e-3	80
Bicuspid aortic valve	Congenital radioulnar synostosis	1	1	SMAD6 (4)	0.06250	0.50000	1.818e-3	2.662e-3	
Corpus callosum agenesis	Partington syndrome	1	1	PAK3 (2)	0.06250	0.50000	1.818e-3	2.662e-3	
Perrault syndrome	Progressive arterial occlusive disease with hypertension	1	1	DAP3 (3)	0.06250	0.50000	1.818e-3	2.662e-3	353
Metabolic bone disorder	Syndactyly of the toes	1	0	DHCR7 (1)	0.06250	0.50000	1.818e-3	2.662e-3	
Hyperferritinemia	Neurodegeneration with brain iron accumulation	1	1	FTL (4)	0.06250	0.50000	1.818e-3	2.662e-3	
Hereditary folate malabsorption	Pancytopenia	1	1	SLC46A1 (4)	0.06250	0.50000	1.818e-3	2.662e-3	428
Congenital exomphalos	Vascular brain injury	1	1	PCSK5 (2)	0.06250	0.50000	1.818e-3	2.662e-3	109
Currarino syndrome	Vascular brain injury	1	1	PCSK5 (3)	0.06250	0.50000	1.818e-3	2.662e-3	109
Sacral defect	Vascular brain injury	1	1	PCSK5 (2)	0.06250	0.50000	1.818e-3	2.662e-3	109
Nephrosclerosis	Whim syndrome	1	1	CXCR4 (8)	0.06250	0.50000	1.818e-3	2.662e-3	
Partington syndrome	Wilson-turner syndrome	1	1	LAS1L (4)	0.06250	0.50000	1.818e-3	2.662e-3	
Neurodegeneration with brain iron accumulation	Woodhouse sakati syndrome	1	1	DCAF17 (6)	0.06250	0.50000	1.818e-3	2.662e-3	
Fanconi-bickel syndrome	Permanent neonatal diabetes mellitus	1	1	SLC2A2 (5)	0.06250	0.50000	1.818e-3	2.662e-3	35
Lamellar ichthyosis	Neutral lipid storage disease with ichthyosis	1	1	ABHD5 (2)	0.06250	0.50000	1.818e-3	2.662e-3	
Hyperemia	Partial adenosine deaminase deficiency	1	1	ADA (2)	0.06250	0.50000	1.818e-3	2.662e-3	
Nephrosclerosis	Periapical periodontitis	1	1	FGF2 (2)	0.06250	0.50000	1.818e-3	2.662e-3	
OPA1-related optic atrophy with or without extraocular features	Stargardt disease	1	1	OPA1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Gonadal dysgenesis	Ovarian teratoma	1	1	BMP15 (2)	0.03448	1.00000	1.818e-3	2.662e-3	149
Hereditary parkinson disease	Parkinson-dementia syndrome	1	1	MAPT (5)	0.03448	1.00000	1.818e-3	2.662e-3	
PCARE-related retinopathy	Stargardt disease	1	1	PCARE (2)	0.03448	1.00000	1.818e-3	2.662e-3	7
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Hereditary parkinson disease	1	1	GBA1 (5)	0.03448	1.00000	1.818e-3	2.662e-3	114
Genetic lipodystrophy	Leber hereditary optic neuropathy	1	0	EPHX1 (1)	0.03448	1.00000	1.818e-3	2.662e-3	
Genetic renal tubular disease	Lymphoid leukemia	1	1	SLC12A3 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	Hypertriglyceridemia	1	1	ZPR1 (4)	0.03448	1.00000	1.818e-3	2.662e-3	57
Guanidinoacetate methyltransferase deficiency	Hereditary parkinson disease	1	1	GAMT (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Hepatic lipase deficiency	Lymphoid leukemia	1	1	LIPC (4)	0.03448	1.00000	1.818e-3	2.662e-3	
hereditary spherocytosis	Internet addiction disorder	1	1	ANK1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Internet addiction disorder	Separation anxiety disorder	1	1	DRD4 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
SNRNP200-related dominant retinopathy	Stargardt disease	1	1	SNRNP200 (2)	0.03448	1.00000	1.818e-3	2.662e-3	7
Hereditary parkinson disease	spinocerebellar ataxia type 2	1	1	ATXN2 (4)	0.03448	1.00000	1.818e-3	2.662e-3	
Mastocytosis	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	1	1	MOCS1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Gonadal dysgenesis	perrault syndrome 2	1	1	HARS2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Gonadal dysgenesis	perrault syndrome 3	1	1	CLPP (2)	0.03448	1.00000	1.818e-3	2.662e-3	
porphyria due to ALA dehydratase deficiency	Sickle cell anemia	1	1	ALAD (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Postaxial acrofacial dysostosis	Sickle cell anemia	1	1	DHODH (5)	0.03448	1.00000	1.818e-3	2.662e-3	
Multinodular goiter	progressive encephalopathy with leukodystrophy due to DECR deficiency	1	1	NADK2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
PROM1-related dominant retinopathy	Stargardt disease	1	1	PROM1 (6)	0.03448	1.00000	1.818e-3	2.662e-3	
PROM1-related recessive retinopathy	Stargardt disease	1	1	PROM1 (6)	0.03448	1.00000	1.818e-3	2.662e-3	
Leber hereditary optic neuropathy	RDH12-related dominant retinopathy	1	1	RDH12 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
RDH12-related dominant retinopathy	Stargardt disease	1	1	RDH12 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Leber hereditary optic neuropathy	RDH12-related recessive retinopathy	1	1	RDH12 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
RDH12-related recessive retinopathy	Stargardt disease	1	1	RDH12 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Diverticulitis	Retinitis pigmentosa with or without skeletal anomalies	1	1	CWC27 (2)	0.03448	1.00000	1.818e-3	2.662e-3	316
Leber hereditary optic neuropathy	RP1-related dominant retinopathy	1	1	RP1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Leber hereditary optic neuropathy	RP1-related recessive retinopathy	1	1	RP1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Diverticulitis	Metaphyseal chondrodysplasia with retinitis pigmentosa	1	1	CWC27 (4)	0.03448	1.00000	1.818e-3	2.662e-3	316
Diverticulitis	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	1	1	CWC27 (2)	0.03448	1.00000	1.818e-3	2.662e-3	316
1p31p32 microdeletion syndrome	Multinodular goiter	1	1	NFIA (3)	0.03448	1.00000	1.818e-3	2.662e-3	
multiple self-healing squamous epithelioma	Scleroderma	1	1	TGFBR1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	22
Idiopathic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 12	1	1	NUP93 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Idiopathic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 13	1	1	NUP205 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Idiopathic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 18	1	1	NUP133 (2)	0.03448	1.00000	1.818e-3	2.662e-3	20
Idiopathic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 19	1	0	NUP160 (1)	0.03448	1.00000	1.818e-3	2.662e-3	20
Idiopathic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 20	1	1	TBC1D8B (2)	0.03448	1.00000	1.818e-3	2.662e-3	20
Idiopathic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 3	1	1	PLCE1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	20
Idiopathic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 8	1	1	ARHGDIA (2)	0.03448	1.00000	1.818e-3	2.662e-3	20
Gonadal dysgenesis	Hydrops with lactic acidosis and sideroblastic anemia	1	1	LARS2 (5)	0.03448	1.00000	1.818e-3	2.662e-3	
Hyperthermia	Sickle cell anemia	1	1	GPX1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Hypokalemia-hypomagnesemia	Lymphoid leukemia	1	1	SLC12A3 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
immunodeficiency 25	Scleroderma	1	1	CD247 (2)	0.03448	1.00000	1.818e-3	2.662e-3	22
Idiopathic steroid-resistant nephrotic syndrome	inherited focal segmental glomerulosclerosis	1	1	CD2AP (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Epithelial ovarian carcinoma	Intellectual developmental disorder behavioral dysmorphic	1	1	PHF21A (5)	0.03448	1.00000	1.818e-3	2.662e-3	
Intellectual developmental disorder growth seizures	Mastocytosis	1	1	ABCA2 (4)	0.03448	1.00000	1.818e-3	2.662e-3	237
Hereditary parkinson disease	Intellectual developmental disorder language neurodegenerative	1	1	NR4A2 (5)	0.03448	1.00000	1.818e-3	2.662e-3	
Intellectual developmental disorder seizures movement	Oral cavity carcinoma	1	1	PDE2A (4)	0.03448	1.00000	1.818e-3	2.662e-3	1
Early-onset obesity-hyperphagia-severe developmental delay syndrome	Internet addiction disorder	1	1	NTRK2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Ehlers-Danlos syndrome, spondylocheirodysplastic type	Scleroderma	1	1	SLC39A13 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Culler-jones syndrome	Exostoses	1	1	GLI2 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Exostoses	Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome	1	1	GLI2 (4)	0.03448	1.00000	1.818e-3	2.662e-3	
Exostoses	Vesiculobullous skin disease	1	0	PRKN (1)	0.03448	1.00000	1.818e-3	2.662e-3	
Exostoses	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	1	1	EXT2 (7)	0.03448	1.00000	1.818e-3	2.662e-3	108
Exostoses	exostoses, multiple, type 2	1	1	EXT2 (5)	0.03448	1.00000	1.818e-3	2.662e-3	108
Exostoses	exostoses, multiple, type 1	1	1	EXT1 (6)	0.03448	1.00000	1.818e-3	2.662e-3	
focal segmental glomerulosclerosis 3, susceptibility to	Idiopathic steroid-resistant nephrotic syndrome	1	1	CD2AP (2)	0.03448	1.00000	1.818e-3	2.662e-3	
focal segmental glomerulosclerosis 9	Idiopathic steroid-resistant nephrotic syndrome	1	1	CRB2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
fragile x syndrome	Gonadal dysgenesis	1	1	FMR1 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
fraser syndrome 3	Lymphoid leukemia	1	1	GRIP1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Intermittent porphyria	Sickle cell anemia	1	1	HMBS (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Hypertriglyceridemia	karyomegalic interstitial nephritis	1	1	FAN1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
LCA5-related retinopathy	Stargardt disease	1	1	LCA5 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
leber congenital amaurosis 15	Stargardt disease	1	1	TULP1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	7
Leber hereditary optic neuropathy	leber-like hereditary optic neuropathy, autosomal recessive 1	1	1	DNAJC30 (7)	0.03448	1.00000	1.818e-3	2.662e-3	
Idiopathic steroid-resistant nephrotic syndrome	Ventriculomegaly with cystic kidney disease	1	1	CRB2 (4)	0.03448	1.00000	1.818e-3	2.662e-3	
Hereditary parkinson disease	Vesiculobullous skin disease	1	1	PRKN (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Internet addiction disorder	X-linked creatine transporter deficiency	1	1	SLC6A8 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
congenital heart defects, multiple types, 2	Diverticulitis	1	1	TAB2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Congenital nephrotic syndrome	Idiopathic steroid-resistant nephrotic syndrome	1	1	NPHS1 (4)	0.03448	1.00000	1.818e-3	2.662e-3	
congenital nephrotic syndrome, Finnish type	Idiopathic steroid-resistant nephrotic syndrome	1	1	NPHS1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Congenital primary lymphedema of gordon	Mastocytosis	1	1	VEGFC (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Corneal degeneration	Stargardt disease	1	1	RDH8 (2)	0.03448	1.00000	1.818e-3	2.662e-3	7
Creatine transporter deficiency	Internet addiction disorder	1	1	SLC6A8 (4)	0.03448	1.00000	1.818e-3	2.662e-3	
Cystic kidney disease with ventriculomegaly	Idiopathic steroid-resistant nephrotic syndrome	1	1	CRB2 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Dominant hereditary optic atrophy	Stargardt disease	1	0	OPA1 (1)	0.03448	1.00000	1.818e-3	2.662e-3	
citrullinemia type I	Diabetic angiopathies	1	1	ASS1 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
citrullinemia type I	Diabetic peripheral angiopathy	1	1	ASS1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
CNGB3-related retinopathy	Stargardt disease	1	1	CNGB3 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
cone-rod dystrophy 2	Stargardt disease	1	1	CRX (2)	0.03448	1.00000	1.818e-3	2.662e-3	7
Congenital alveolar capillary dysplasia	Mastocytosis	1	1	FOXF1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Bilateral vestibulopathy	Hereditary parkinson disease	1	1	RFC1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Brachydactyly-short stature-retinits pigmentosa syndrome	Diverticulitis	1	1	CWC27 (3)	0.03448	1.00000	1.818e-3	2.662e-3	316
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation	Diverticulitis	1	1	TAB2 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Apolipoprotein a5 deficiency	Hypertriglyceridemia	1	1	APOA5 (5)	0.03448	1.00000	1.818e-3	2.662e-3	57
aromatic l-amino acid decarboxylase deficiency	Exostoses	1	1	DDC (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Aromatic l-amino-acid decarboxylase deficiency	Exostoses	1	1	DDC (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Epithelial ovarian carcinoma	1	1	PPP3CA (4)	0.03448	1.00000	1.818e-3	2.662e-3	
atypical hemolytic-uremic syndrome with B factor anomaly	Sickle cell anemia	1	1	CFB (2)	0.03448	1.00000	1.818e-3	2.662e-3	
autoimmune lymphoproliferative syndrome type 1	Diabetic angiopathies	1	1	FASLG (3)	0.03448	1.00000	1.818e-3	2.662e-3	63
autoimmune lymphoproliferative syndrome type 1	Diabetic peripheral angiopathy	1	1	FASLG (2)	0.03448	1.00000	1.818e-3	2.662e-3	63
Cednik syndrome	Oral cavity carcinoma	1	1	SNAP29 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia	Hereditary parkinson disease	1	1	RFC1 (5)	0.03448	1.00000	1.818e-3	2.662e-3	
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	Oral cavity carcinoma	1	1	SNAP29 (4)	0.03448	1.00000	1.818e-3	2.662e-3	
cerebroretinal microangiopathy with calcifications and cysts 2	Epithelial ovarian carcinoma	1	1	STN1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
CERKL-related retinopathy	Stargardt disease	1	1	CERKL (2)	0.03448	1.00000	1.818e-3	2.662e-3	7
Charcot-Marie-Tooth disease dominant intermediate E	Idiopathic steroid-resistant nephrotic syndrome	1	1	INF2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
chondrodysplasia with joint dislocations, gpapp type	Diverticulitis	1	1	BPNT2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Chromosome 2p16.3 deletion syndrome	Internet addiction disorder	1	1	NRXN1 (3)	0.03448	1.00000	1.818e-3	2.662e-3	
Chromosome 6q24-q25 deletion syndrome	Diverticulitis	1	1	TAB2 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Chromosome xq27.3-q28 duplication syndrome	Gonadal dysgenesis	1	1	FMR1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
acute intermittent porphyria	Sickle cell anemia	1	1	HMBS (2)	0.03448	1.00000	1.818e-3	2.662e-3	
acute myeloid leukemia	Mastocytosis	1	1	CEBPA (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Alveolar capillary dysplasia	Mastocytosis	1	1	FOXF1 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
amyotrophic lateral sclerosis type 19	Internet addiction disorder	1	1	ERBB4 (2)	0.03448	1.00000	1.818e-3	2.662e-3	
Anterior cruciate ligament injury	Scleroderma	1	0	CNR2 (1)	0.03448	1.00000	1.818e-3	2.662e-3	
Hearing loss	Lipoyltransferase deficiency	2	1	LIPT1 (6), MITD1 (1)	0.00514	0.66667	1.859e-3	2.721e-3	
joubert syndrome 36	Macrogyria	1	1	FAM149B1 (2)	0.03333	1.00000	1.883e-3	2.746e-3	124
Heart valve prolapse	knobloch syndrome 1	1	1	COL18A1 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital contractural arachnodactyly	loeys-dietz syndrome 6	1	1	SMAD2 (2)	0.03333	1.00000	1.883e-3	2.746e-3	50
Congenital contractural arachnodactyly	meester-loeys syndrome	1	1	BGN (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital myasthenic syndrome	myasthenic syndrome, congenital, 1b, fast-channel	1	1	CHRNA1 (3)	0.03333	1.00000	1.883e-3	2.746e-3	5
Congenital myasthenic syndrome	myopathy caused by variation in GMPPB	1	1	GMPPB (6)	0.03333	1.00000	1.883e-3	2.746e-3	
Macrogyria	myopathy caused by variation in POMT2	1	1	POMT2 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Focal segmental glomerulosclerosis	nail-patella syndrome	1	1	LMX1B (3)	0.03333	1.00000	1.883e-3	2.746e-3	
Duchenne muscular dystrophy	nephrotic syndrome, type 12	1	1	NUP93 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Holoprosencephaly	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	1	1	DLL1 (4)	0.03333	1.00000	1.883e-3	2.746e-3	110
Congenital myasthenic syndrome	neuronopathy, distal hereditary motor, type 7A	1	1	SLC5A7 (3)	0.03333	1.00000	1.883e-3	2.746e-3	5
obsolete deficiency of adenosine deaminase 2	Vasculitis	1	1	ADA2 (5)	0.03333	1.00000	1.883e-3	2.746e-3	
Holoprosencephaly	Patterson stevenson fontaine syndrome	1	0	LMBR1 (1)	0.03333	1.00000	1.883e-3	2.746e-3	
Heart valve prolapse	Pyoderma gangrenosum	1	1	PTPN6 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Duchenne muscular dystrophy	Retrograde amnesia	1	1	PREP (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital contractural arachnodactyly	Rienhoff syndrome	1	1	TGFB3 (3)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital contractural arachnodactyly	Trident hand	1	1	NPR2 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Heart valve prolapse	Vitamin k deficiency	1	0	BGLAP (1)	0.03333	1.00000	1.883e-3	2.746e-3	391
Congenital contractural arachnodactyly	X-linked spondyloepimetaphyseal dysplasia	1	1	BGN (4)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital contractural arachnodactyly	X-linked thoracic aortic aneurysm	1	1	BGN (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Vasculitis	xanthinuria type II	1	1	MOCOS (3)	0.03333	1.00000	1.883e-3	2.746e-3	
Holoprosencephaly	Xq25 microduplication syndrome	1	1	STAG2 (5)	0.03333	1.00000	1.883e-3	2.746e-3	
Holoprosencephaly	holoprosencephaly 12 with or without pancreatic agenesis	1	1	CNOT1 (5)	0.03333	1.00000	1.883e-3	2.746e-3	
Holoprosencephaly	holoprosencephaly-hypokinesia-congenital contractures syndrome	1	1	GPKOW (3)	0.03333	1.00000	1.883e-3	2.746e-3	110
Congenital contractural arachnodactyly	Homocystinuria	1	1	CBS (4)	0.03333	1.00000	1.883e-3	2.746e-3	
Focal segmental glomerulosclerosis	inherited focal segmental glomerulosclerosis	1	1	CD2AP (5)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital myasthenic syndrome	Intellectual developmental disorder seizures behavioral	1	1	ALG14 (6)	0.03333	1.00000	1.883e-3	2.746e-3	5
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Mitochondrial dna depletion syndrome	1	1	EDAR (2)	0.03333	1.00000	1.883e-3	2.746e-3	
familial acute necrotizing encephalopathy	Mitochondrial dna depletion syndrome	1	1	RANBP2 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
fanconi anemia complementation group i	Mitochondrial dna depletion syndrome	1	1	FANCI (2)	0.03333	1.00000	1.883e-3	2.746e-3	181
Focal segmental glomerulosclerosis	focal segmental glomerulosclerosis 3, susceptibility to	1	1	CD2AP (5)	0.03333	1.00000	1.883e-3	2.746e-3	
Focal segmental glomerulosclerosis	focal segmental glomerulosclerosis and neurodevelopmental syndrome	1	1	TRIM8 (4)	0.03333	1.00000	1.883e-3	2.746e-3	20
Acheiropody	Holoprosencephaly	1	1	LMBR1 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Adenosine deaminase 2 deficiency	Vasculitis	1	1	ADA2 (7)	0.03333	1.00000	1.883e-3	2.746e-3	
ALG2-congenital disorder of glycosylation	Congenital myasthenic syndrome	1	1	ALG2 (6)	0.03333	1.00000	1.883e-3	2.746e-3	5
classic homocystinuria	Congenital contractural arachnodactyly	1	1	CBS (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital myasthenic syndrome	congenital myasthenic syndrome 10	1	1	DOK7 (5)	0.03333	1.00000	1.883e-3	2.746e-3	5
Congenital myasthenic syndrome	congenital myasthenic syndrome 12	1	1	GFPT1 (5)	0.03333	1.00000	1.883e-3	2.746e-3	5
Congenital myasthenic syndrome	congenital myasthenic syndrome 2A	1	1	CHRNB1 (4)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital myasthenic syndrome	congenital myasthenic syndrome 2C	1	1	CHRNB1 (4)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital myasthenic syndrome	congenital myasthenic syndrome 6	1	1	CHAT (4)	0.03333	1.00000	1.883e-3	2.746e-3	5
Congenital myasthenic syndrome	congenital myasthenic syndrome 7	1	1	SYT2 (3)	0.03333	1.00000	1.883e-3	2.746e-3	5
Congenital myasthenic syndrome	congenital myasthenic syndrome 8	1	1	AGRN (3)	0.03333	1.00000	1.883e-3	2.746e-3	5
Congenital myasthenic syndrome	congenital myasthenic syndrome 9	1	1	MUSK (3)	0.03333	1.00000	1.883e-3	2.746e-3	5
Den hoed-de boer-voisin syndrome	Duchenne muscular dystrophy	1	1	SATB1 (3)	0.03333	1.00000	1.883e-3	2.746e-3	
Developmental delay with dysmorphic facies and dental anomalies	Duchenne muscular dystrophy	1	1	SATB1 (4)	0.03333	1.00000	1.883e-3	2.746e-3	
Congenital myasthenic syndrome	DPAGT1-congenital disorder of glycosylation	1	1	DPAGT1 (6)	0.03333	1.00000	1.883e-3	2.746e-3	
Duchenne muscular dystrophy	methemoglobinemia type 4	1	1	CYB5A (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Benign congenital myopathy	Duchenne muscular dystrophy	1	1	DMD (4)	0.03333	1.00000	1.883e-3	2.746e-3	212
Duchenne muscular dystrophy	Dystrophinopathy	1	1	DMD (4)	0.03333	1.00000	1.883e-3	2.746e-3	212
Duchenne muscular dystrophy	progressive muscular dystrophy	1	1	DMD (5)	0.03333	1.00000	1.883e-3	2.746e-3	212
Caspase 8 deficiency	Cerebral hemorrhage	1	1	CASP8 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
CBL-related disorder	Vasculitis	1	1	CBL (3)	0.03333	1.00000	1.883e-3	2.746e-3	
Charcot-Marie-Tooth disease dominant intermediate E	Focal segmental glomerulosclerosis	1	1	INF2 (6)	0.03333	1.00000	1.883e-3	2.746e-3	
Chromodomain helicase dna binding protein 8 overgrowth syndrome	Congenital myasthenic syndrome	1	1	CHD8 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Chromosome xq25 duplication syndrome	Holoprosencephaly	1	1	STAG2 (3)	0.03333	1.00000	1.883e-3	2.746e-3	
Boudin-mortier syndrome	Congenital contractural arachnodactyly	1	1	NPR3 (5)	0.03333	1.00000	1.883e-3	2.746e-3	50
Bullous pyoderma gangrenosum	Heart valve prolapse	1	1	PTPN6 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
arterial tortuosity-bone fragility syndrome	Congenital contractural arachnodactyly	1	1	EMILIN1 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
autoimmune lymphoproliferative syndrome type 2B	Cerebral hemorrhage	1	1	CASP8 (2)	0.03333	1.00000	1.883e-3	2.746e-3	
Adams-oliver syndrome	Aplasia cutis congenita	1	1	DLL4 (4)	0.09091	0.20000	1.947e-3	2.813e-3	
Bile duct disorder	Congenital heart malformation	1	0	MAML3 (1)	0.09091	0.20000	1.947e-3	2.813e-3	
Bronchopneumonia	Erythropoietic protoporphyria	1	1	BTC (3)	0.09091	0.20000	1.947e-3	2.813e-3	318
Cerebellar atrophy with seizures and variable developmental delay	complex neurodevelopmental disorder with motor features	1	1	EMC1 (6)	0.09091	0.20000	1.947e-3	2.813e-3	85
Focal onset epileptic seizure	Frontal lobe epilepsy	1	1	CHRNB2 (2)	0.09091	0.20000	1.947e-3	2.813e-3	
Neuropathy, congenital hypomyelinating	Retinitis punctata albescens	1	1	RHO (2)	0.09091	0.20000	1.947e-3	2.813e-3	
Congenital bile acid synthesis defect	Oculopharyngodistal myopathy	1	1	ABCD3 (7)	0.09091	0.20000	1.947e-3	2.813e-3	
Paralytic strabismus	Telomere syndrome	1	1	PARN (2)	0.09091	0.20000	1.947e-3	2.813e-3	
Paraplegia	Proximal spinal muscular atrophy	1	1	SPG7 (2)	0.09091	0.20000	1.947e-3	2.813e-3	348
Laryngeal neoplasms	Respiratory system neoplasm	1	1	ADH1B (2)	0.09091	0.20000	1.947e-3	2.813e-3	
Ataxia with oculomotor apraxia	Proximal spinal muscular atrophy	1	0	SETX (1)	0.09091	0.20000	1.947e-3	2.813e-3	
Gilbert syndrome	Rotor syndrome	1	1	SLCO1B1 (4)	0.07692	0.33333	1.947e-3	2.813e-3	256
Bone resorption	Ovarian diseases	1	1	CYP19A1 (2)	0.07692	0.33333	1.947e-3	2.813e-3	
Early onset vitamin b6 dependent epilepsy	Myelomonocytic leukemia	1	1	CBL (5)	0.07692	0.33333	1.947e-3	2.813e-3	
Estrogen resistance	Leiomyoma	1	1	ESR1 (6)	0.07692	0.33333	1.947e-3	2.813e-3	
Berylliosis	Hepatitis c induced liver cirrhosis	1	1	BTNL2 (2)	0.07692	0.33333	1.947e-3	2.813e-3	
Apraxia	Marinesco-sjogren syndrome	1	1	SIL1 (6)	0.07692	0.33333	1.947e-3	2.813e-3	231
Metaphyseal dysplasia	Tooth abnormalities	1	1	RUNX2 (6)	0.07692	0.33333	1.947e-3	2.813e-3	
Hyperalphalipoproteinemia	Hypertensive heart disease	1	1	SCARB1 (2)	0.07692	0.33333	1.947e-3	2.813e-3	
Cornelia de lange syndrome	Trichorhinophalangeal syndrome	1	1	RAD21 (6)	0.07692	0.33333	1.947e-3	2.813e-3	
Omenn syndrome	X-linked combined immunodeficiency diseases	1	1	IL2RG (4)	0.07692	0.33333	1.947e-3	2.813e-3	
Cholesterol ester transfer protein deficiency	Hypertensive heart disease	1	1	SCARB1 (2)	0.07692	0.33333	1.947e-3	2.813e-3	
Chorioretinopathy with microcephaly	Dwarfism	1	1	PLK4 (3)	0.07692	0.33333	1.947e-3	2.813e-3	
Chudley-mccullough syndrome	Spherocytosis	1	1	SPTB (3)	0.07692	0.33333	1.947e-3	2.813e-3	271
Contracture	Geleophysic dysplasia	1	1	ADAMTSL2 (5)	0.07692	0.33333	1.947e-3	2.813e-3	28
Cleidocranial dysplasia	Tooth abnormalities	1	1	RUNX2 (6)	0.07692	0.33333	1.947e-3	2.813e-3	
Desbuquois dysplasia	Epiphyseal dysplasia	1	1	CANT1 (5)	0.07692	0.33333	1.947e-3	2.813e-3	
Apraxia	Dias-logan syndrome	1	1	BCL11A (5)	0.07692	0.33333	1.947e-3	2.813e-3	
Anorectal malformation	Diffuse panbronchiolitis	1	1	MUC5B (2)	0.05882	0.50000	1.947e-3	2.813e-3	
congenital heart disease with heterotaxy syndrome	Syntelencephaly	1	1	NODAL (3)	0.05882	0.50000	1.947e-3	2.813e-3	
congenital heart disease with heterotaxy syndrome	Septopreoptic holoprosencephaly	1	1	NODAL (2)	0.05882	0.50000	1.947e-3	2.813e-3	
Autoinflammatory disease, familial, behcet-like 3	Cystitis	1	1	RELA (3)	0.05882	0.50000	1.947e-3	2.813e-3	80
Chronic progressive external ophthalmoplegia	Mitochondrial myopathy	1	1	RRM2B (2)	0.05882	0.50000	1.947e-3	2.813e-3	
Cobblestone lissencephaly	Coloboma	1	1	LAMB1 (6)	0.05882	0.50000	1.947e-3	2.813e-3	
Colobomatous microphthalmia	Colobomatous optic disc macular atrophy chorioretinopathy syndrome	1	1	SIX6 (4)	0.05882	0.50000	1.947e-3	2.813e-3	52
Bradyopsia	Dyskinesia, drug-induced	1	1	RGS9 (4)	0.05882	0.50000	1.947e-3	2.813e-3	118
Arrhythmogenic right ventricular dysplasia	Brain compression	1	1	CTNNA3 (2)	0.05882	0.50000	1.947e-3	2.813e-3	
Andersen-tawil syndrome	Polymorphic catecholaminergic ventricular tachycardia	1	1	KCNJ2 (5)	0.05882	0.50000	1.947e-3	2.813e-3	
Anorectal malformation	X-linked dyskeratosis congenita	1	1	RTEL1 (2)	0.05882	0.50000	1.947e-3	2.813e-3	
Dyskinesia, drug-induced	Tyrosine hydroxylase–deficient dopa-responsive dystonia	1	1	TH (3)	0.05882	0.50000	1.947e-3	2.813e-3	
Genitourinary disease	Urinary system disease	1	0	BCAS3 (1)	0.05882	0.50000	1.947e-3	2.813e-3	
Omodysplasia	Secondary parkinson disease	1	1	GPC6 (6)	0.05882	0.50000	1.947e-3	2.813e-3	
46,xy gonadal dysgenesis	Ovarian hyperstimulation syndrome	1	1	FSHR (6)	0.05882	0.50000	1.947e-3	2.813e-3	149
Parkinsonian-pyramidal syndrome	Secondary parkinson disease	1	1	SNCA (3)	0.05882	0.50000	1.947e-3	2.813e-3	395
Cleft lip and palate	Eosinophilic leukemia	1	1	PDGFRA (2)	0.05882	0.50000	1.947e-3	2.813e-3	
Hyperpituitarism	Recurrent multifocal osteomyelitis	1	1	IL1R1 (4)	0.05882	0.50000	1.947e-3	2.813e-3	
Familial mediterranean fever	Hyperpituitarism	1	1	ABCB1 (2)	0.05882	0.50000	1.947e-3	2.813e-3	120
Gastro-entero-pancreatic neuroendocrine tumor	immunodeficiency 104	1	1	PTPRC (2)	0.05882	0.50000	1.947e-3	2.813e-3	
Intellectual developmental disorder dysmorphic cerebellar	Mitochondrial myopathy	1	0	CYTB (1)	0.05882	0.50000	1.947e-3	2.813e-3	
Lymphatic system disease	Uterine prolapse	1	0	SLC12A2 (1)	0.05882	0.50000	1.947e-3	2.813e-3	
inherited retinal dystrophy	Microphthalmia with retinitis pigmentosa and ocular anomalies	1	1	C1QTNF5 (2)	0.05882	0.50000	1.947e-3	2.813e-3	
Cerebellar atrophy	microcephaly, seizures, and developmental delay	1	1	PNKP (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Mucosulfatidosis	Spondylosis	1	1	SUMF1 (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Multiple system atrophy	tetraamelia syndrome 1	1	1	WNT3 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Axonal hereditary motor and sensory neuropathy	Multiple system atrophy	1	1	MFN2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	168
multiple symmetric lipomatosis with partial lipodystrophy	Multiple system atrophy	1	1	MFN2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	168
Charcot-Marie-Tooth disease type 2A2	Multiple system atrophy	1	1	MFN2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	168
Cerebellar atrophy	Nasu-hakola disease	1	1	TYROBP (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Appendicitis	nephronophthisis 1	1	1	NPHP1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Cerebellar atrophy	neurodegeneration, childhood-onset, with cerebellar atrophy	1	1	AGTPBP1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital cartilage disorder	obsolete Stüve-Wiedemann syndrome	1	1	LIFR (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	VPS11-related neurological disorder	1	1	VPS11 (7)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	Wiedemann-rautenstrauch syndrome	1	1	POLR3A (4)	0.03226	1.00000	1.948e-3	2.813e-3	59
Congenital cartilage disorder	Schmid metaphyseal chondrodysplasia	1	1	COL10A1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Esophageal disease	spinocerebellar ataxia type 2	1	1	ATXN2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital cartilage disorder	Stickler syndrome, type 4	1	1	COL9A1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	treacher collins syndrome 3	1	1	POLR1C (6)	0.03226	1.00000	1.948e-3	2.813e-3	
Appendicitis	periventricular nodular heterotopia 7	1	1	NEDD4L (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	POLR1C-related disorder	1	1	POLR1C (6)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	POLR3A-related disorder	1	1	POLR3A (5)	0.03226	1.00000	1.948e-3	2.813e-3	59
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 1	1	1	DNAI1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 10	1	1	DNAAF2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 11	1	1	RSPH4A (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 12	1	1	RSPH9 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 13	1	1	DNAAF1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 14	1	1	CCDC39 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 15	1	1	CCDC40 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 16	1	1	DNAL1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 17	1	1	DNAAF19 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 18	1	1	DNAAF5 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 19	1	1	DNAAF11 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 2	1	1	DNAAF3 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 20	1	1	ODAD1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 21	1	1	DRC1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 22	1	1	ZMYND10 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 23	1	1	ODAD2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 24	1	1	RSPH1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 25	1	1	DNAAF4 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 26	1	1	CFAP298 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 28	1	1	SPAG1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 29	1	1	CCNO (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 3	1	1	DNAH5 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 30	1	1	ODAD3 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 32	1	1	RSPH3 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 5	1	1	HYDIN (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 7	1	1	DNAH11 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital nasopharyngeal atresia	primary ciliary dyskinesia 9	1	1	DNAI2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	9
Congenital cartilage disorder	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	1	1	HOXA11 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
glutaryl-CoA dehydrogenase deficiency	Hypomyelinating leukodystrophy	1	1	GCDH (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	Lipoprotein lipase deficiency	1	1	ZPR1 (4)	0.03226	1.00000	1.948e-3	2.813e-3	57
Cerebellar atrophy	hereditary spastic paraplegia 35	1	1	FA2H (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Intellectual developmental disorder short stature behavioral	Spondylosis	1	1	IQSEC1 (5)	0.03226	1.00000	1.948e-3	2.813e-3	360
iron overload, susceptibility to	Spondylosis	1	1	BMP6 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
lamb-shaffer syndrome	Spondylosis	1	1	SOX5 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	leukodystrophy, hypomyelinating, 14	1	1	UFM1 (5)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	leukodystrophy, hypomyelinating, 16	1	1	TMEM106B (4)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	leukodystrophy, hypomyelinating, 17	1	1	AIMP2 (4)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	leukodystrophy, hypomyelinating, 18	1	1	DEGS1 (5)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	leukodystrophy, hypomyelinating, 21	1	1	POLR3K (5)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	leukodystrophy, hypomyelinating, 22	1	1	CLDN11 (4)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	leukodystrophy, hypomyelinating, 25	1	1	TMEM163 (5)	0.03226	1.00000	1.948e-3	2.813e-3	
Congenital cartilage disorder	Dyggve-melchior-clausen syndrome	1	1	DYM (5)	0.03226	1.00000	1.948e-3	2.813e-3	
Early-onset obesity-hyperphagia-severe developmental delay syndrome	West syndrome	1	1	NTRK2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Endometrioid carcinoma	Lymphatic metastasis	1	0	MSLN (1)	0.03226	1.00000	1.948e-3	2.813e-3	
Epilepsy due to perinatal stroke	West syndrome	1	0	ST3GAL3 (1)	0.03226	1.00000	1.948e-3	2.813e-3	337
Expressive language delay	Lymphatic metastasis	1	1	KLF7 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
hypercholesterolemia, autosomal dominant, 3	Lipoprotein lipase deficiency	1	1	PCSK9 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
hypercholesterolemia, familial, 1	Lipoprotein lipase deficiency	1	1	LDLR (2)	0.03226	1.00000	1.948e-3	2.813e-3	57
Hypomyelinating leukodystrophy	POLR3B-related disorder	1	1	POLR3B (6)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	hypomyelinating leukodystrophy 13	1	1	HIKESHI (6)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	hypomyelinating leukodystrophy 2	1	1	GJC2 (5)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	hypomyelinating leukodystrophy 3	1	1	AIMP1 (4)	0.03226	1.00000	1.948e-3	2.813e-3	
Hypomyelinating leukodystrophy	hypomyelinating leukodystrophy 5	1	1	HYCC1 (4)	0.03226	1.00000	1.948e-3	2.813e-3	59
Hypomyelinating leukodystrophy	hypomyelinating leukodystrophy 9	1	1	RARS1 (5)	0.03226	1.00000	1.948e-3	2.813e-3	59
12p12.1 microdeletion syndrome	Spondylosis	1	1	SOX5 (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Antecubital pterygium syndrome	Lipoprotein lipase deficiency	1	1	PSD3 (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Apolipoprotein a5 deficiency	Lipoprotein lipase deficiency	1	1	APOA5 (3)	0.03226	1.00000	1.948e-3	2.813e-3	57
Appendicitis	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	1	1	PPP3CA (4)	0.03226	1.00000	1.948e-3	2.813e-3	
Autosomal recessive hypomyelinating leukodystrophy	Hypomyelinating leukodystrophy	1	1	HIKESHI (7)	0.03226	1.00000	1.948e-3	2.813e-3	
Bartter disease type 5	Cerebellar atrophy	1	1	MAGED2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Developmental delay with or without epilepsy	West syndrome	1	1	SPTAN1 (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Dna ligase iv deficiency	Spondylosis	1	1	LIG4 (4)	0.03226	1.00000	1.948e-3	2.813e-3	360
Congenital lethal myopathy 	Spondylosis	1	1	CNTN1 (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Beta-ureidopropionase deficiency	West syndrome	1	1	UPB1 (6)	0.03226	1.00000	1.948e-3	2.813e-3	337
Bone dysplasia with increased bone density	Congenital cartilage disorder	1	0	SOST (1)	0.03226	1.00000	1.948e-3	2.813e-3	
Camptodactyly	Esophageal disease	1	1	TLN2 (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Caudate atrophy	Cerebellar atrophy	1	0	TYROBP (1)	0.03226	1.00000	1.948e-3	2.813e-3	
Cednik syndrome	Hypomyelinating leukodystrophy	1	1	SNAP29 (4)	0.03226	1.00000	1.948e-3	2.813e-3	
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	Hypomyelinating leukodystrophy	1	1	SNAP29 (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Cerebrovascular trauma	West syndrome	1	1	PHACTR1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Appendicitis	Chromosome 2p16.1-p15 deletion syndrome	1	1	USP34 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
CNGA1-related retinopathy	Spondylosis	1	1	CNGA1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Comp-related skeletal dysplasia	Congenital cartilage disorder	1	1	COMP (3)	0.03226	1.00000	1.948e-3	2.813e-3	
Compton-north congenital myopathy	Spondylosis	1	1	CNTN1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	
Cerebellar atrophy	Congenital cerebellar hypoplasia	1	1	OXR1 (2)	0.03226	1.00000	1.948e-3	2.813e-3	241
congenital disorder of glycosylation, type iit	Lipoprotein lipase deficiency	1	1	GALNT2 (2)	0.03226	1.00000	1.948e-3	2.813e-3	57
Aplastic anemia	Esophageal atresia	2	1	TERT (5), GSTM1 (1)	0.03175	0.06250	1.996e-3	2.882e-3	
Endometrioid carcinoma	Pancreatic ductal carcinoma	1	0	MSLN (1)	0.03125	1.00000	2.013e-3	2.885e-3	
Fanconi anemia complementation group A	Pituitary stalk interruption syndrome	1	1	FANCA (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Dermatomyositis	Fanconi anemia complementation group C	1	1	FANCC (2)	0.03125	1.00000	2.013e-3	2.885e-3	
fanconi anemia complementation group d2	Pituitary stalk interruption syndrome	1	1	FANCD2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
fanconi anemia complementation group g	Pituitary stalk interruption syndrome	1	1	FANCG (2)	0.03125	1.00000	2.013e-3	2.885e-3	
fanconi anemia complementation group p	Pituitary stalk interruption syndrome	1	1	SLX4 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	FDXR-related optic atrophy mitochondrial dysfunction syndrome	1	1	FDXR (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Feingold syndrome type 1	Hyperplasia	1	1	MYCN (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	FOXG1 disorder	1	1	FOXG1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
frontorhiny	Neural tube defects, x-linked	1	1	ALX3 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis	Neuronal ceroid lipofuscinosis	1	1	GRN (6)	0.03125	1.00000	2.013e-3	2.885e-3	
Hyperplasia	Peters plus syndrome	1	1	B3GLCT (2)	0.03125	1.00000	2.013e-3	2.885e-3	116
Pancreatic ductal carcinoma	peutz-jeghers syndrome	1	1	STK11 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Biliary atresia	Phenylketonuria	1	1	PAH (4)	0.03125	1.00000	2.013e-3	2.885e-3	
Pituitary stalk interruption syndrome	PMM2-congenital disorder of glycosylation	1	1	PMM2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	1	1	DIAPH1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	157
Biliary atresia	RP1-related dominant retinopathy	1	1	RP1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Biliary atresia	RP1-related recessive retinopathy	1	1	RP1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	1	1	EP300 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Neuronal ceroid lipofuscinosis	Visceral acid sphingomyelinase deficiency	1	1	SMPD1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Seborrheic keratosis	Woolly hair-skin fragility syndrome	1	1	TUFT1 (4)	0.03125	1.00000	2.013e-3	2.885e-3	16
Hyperplasia	megalencephaly-polydactyly syndrome	1	1	MYCN (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Hyperplasia	methionine adenosyltransferase deficiency	1	1	MAT1A (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	microcephalic primordial dwarfism due to RTTN deficiency	1	1	RTTN (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	1	1	WDR62 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	microcephaly with intellectual disability	1	1	MCPH1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	microcephaly with or without short stature	1	1	CEP152 (2)	0.03125	1.00000	2.013e-3	2.885e-3	137
Congenital microcephaly	microcephaly, seizures, and developmental delay	1	1	PNKP (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Neurodegeneration peripheral neuropathy syndrome	Neuronal ceroid lipofuscinosis	1	1	CLCN6 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
neurodegeneration, childhood-onset, with cerebellar atrophy	Pontocerebellar hypoplasia	1	1	AGTPBP1 (3)	0.03125	1.00000	2.013e-3	2.885e-3	
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	Neuronal ceroid lipofuscinosis	1	1	CLCN6 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Neural tube defects, x-linked	neurodegenerative syndrome due to cerebral folate transport deficiency	1	1	FOLR1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Distal spinal muscular atrophy	neuronopathy, distal hereditary motor, autosomal dominant	1	1	HSPB8 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Distal spinal muscular atrophy	neuronopathy, distal hereditary motor, type 7A	1	1	SLC5A7 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
neuropathy, hereditary motor and sensory, type 6B	Pontocerebellar hypoplasia	1	1	SLC25A46 (7)	0.03125	1.00000	2.013e-3	2.885e-3	
Hyperplasia	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	1	1	KDM1A (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	Pelizaeus-Merzbacher spectrum disorder	1	1	PLP1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	schimke immuno-osseous dysplasia	1	1	SMARCAL1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	Sensorineural hearing loss thrombocytopenia syndrome	1	1	DIAPH1 (3)	0.03125	1.00000	2.013e-3	2.885e-3	157
Pharyngeal disorder	severe combined immunodeficiency due to CARMIL2 deficiency	1	1	CARMIL2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Pituitary stalk interruption syndrome	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies	1	1	SOX11 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Pharyngeal disorder	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	1	1	FOXN1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Biliary atresia	Tetrahydrobiopterin-responsive phenylketonuria	1	1	PAH (2)	0.03125	1.00000	2.013e-3	2.885e-3	
hypercholesterolemia, familial, 1	Hyperplasia	1	1	LDLR (2)	0.03125	1.00000	2.013e-3	2.885e-3	
hyperinsulinemic hypoglycemia with polycystic kidney disease	Pituitary stalk interruption syndrome	1	1	PMM2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
hypogonadotropic hypogonadism 3 with or without anosmia	Pituitary stalk interruption syndrome	1	1	PROKR2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
IL21-related infantile inflammatory bowel disease	Selective iga deficiency disease	1	1	IL21 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
immunodeficiency 84	Selective iga deficiency disease	1	1	IKZF3 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
immunodeficiency, common variable, 12	Pharyngeal disorder	1	1	NFKB1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	103
immunodeficiency, common variable, 12	Membranous glomerulonephritis	1	1	NFKB1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
immunodeficiency, common variable, 2	Pharyngeal disorder	1	1	TNFRSF13B (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	inherited neurodegenerative disorder	1	1	KIF5A (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Intellectual developmental disorder dysmorphic macrocephaly	Pharyngeal disorder	1	1	ZBTB7A (2)	0.03125	1.00000	2.013e-3	2.885e-3	103
Intellectual developmental disorder microcephaly ocular	Pituitary stalk interruption syndrome	1	1	SOX11 (4)	0.03125	1.00000	2.013e-3	2.885e-3	
Gallbladder agenesis	Hyperplasia	1	1	MYCN (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Gestational trophoblastic disease	Membranous glomerulonephritis	1	1	POU5F1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
glycogen storage disease II	Membranous glomerulonephritis	1	1	GAA (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Glycoprotein storage disease	Membranous glomerulonephritis	1	0	GAA (1)	0.03125	1.00000	2.013e-3	2.885e-3	
GPR161-related medulloblastoma predisposition	Pituitary stalk interruption syndrome	1	1	GPR161 (3)	0.03125	1.00000	2.013e-3	2.885e-3	58
GRHL3-related orofacial clefting	Neural tube defects, x-linked	1	1	GRHL3 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital ear anomaly	hearing impairment and infertile male syndrome	1	1	CDC14A (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital ear anomaly	Hearing loss with hypertrophic cardiomyopathy	1	0	MYO6 (1)	0.03125	1.00000	2.013e-3	2.885e-3	
Distal spinal muscular atrophy	hereditary peripheral neuropathy	1	1	IGHMBP2 (4)	0.03125	1.00000	2.013e-3	2.885e-3	
Distal spinal muscular atrophy	hereditary sensory and autonomic neuropathy type 6	1	1	DST (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	Intellectual disability with craniofacial dysmorphism and macrocephaly	1	1	H1-4 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
joubert syndrome 3	Selective iga deficiency disease	1	1	AHI1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	369
kufor-rakeb syndrome	Neuronal ceroid lipofuscinosis	1	1	ATP13A2 (4)	0.03125	1.00000	2.013e-3	2.885e-3	
ciliary dyskinesia, primary, 41	Pharyngeal disorder	1	1	GAS2L2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	103
Cleft palate psychomotor retardation distinctive facial features	Hyperplasia	1	1	KDM1A (3)	0.03125	1.00000	2.013e-3	2.885e-3	
Coasy protein-associated neurodegeneration	Pontocerebellar hypoplasia	1	1	COASY (5)	0.03125	1.00000	2.013e-3	2.885e-3	
Coenzyme a synthase protein associated neurodegeneration	Pontocerebellar hypoplasia	1	1	COASY (4)	0.03125	1.00000	2.013e-3	2.885e-3	
Cohen syndrome	Pituitary stalk interruption syndrome	1	1	VPS13B (7)	0.03125	1.00000	2.013e-3	2.885e-3	58
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency	Selective iga deficiency disease	1	1	IKZF3 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	Neural tube defects, x-linked	1	1	MTHFD1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	Deafness dystonia syndrome	1	1	TIMM8A (3)	0.03125	1.00000	2.013e-3	2.885e-3	157
Developmental delay with or without epilepsy	Distal spinal muscular atrophy	1	1	SPTAN1 (3)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	1	1	DIAPH1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	157
dilated cardiomyopathy 1D	Seborrheic keratosis	1	1	TNNT2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
dilated cardiomyopathy 1HH	Distal spinal muscular atrophy	1	1	BAG3 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Distal axonal motor neuropathy-myofibrillar myopathy syndrome	Distal spinal muscular atrophy	1	1	HSPB8 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
46 XY differences of sex development	Selective iga deficiency disease	1	1	DMRT1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Acid sphingomyelinase deficiency	Neuronal ceroid lipofuscinosis	1	1	SMPD1 (3)	0.03125	1.00000	2.013e-3	2.885e-3	
agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Auditory neuropathy	1	1	CDH2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Alexander disease	Neuronal ceroid lipofuscinosis	1	1	GFAP (4)	0.03125	1.00000	2.013e-3	2.885e-3	
amyotrophic lateral sclerosis type 6	Distal spinal muscular atrophy	1	1	FUS (2)	0.03125	1.00000	2.013e-3	2.885e-3	
amyotrophic lateral sclerosis, susceptibility to, 25	Auditory neuropathy	1	1	KIF5A (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Anaphylatoxin inactivator deficiency	Dermatomyositis	1	1	CPN1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
anterior segment dysgenesis 8	Selective iga deficiency disease	1	1	CPAMD8 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
arrhythmogenic right ventricular dysplasia 5	Auditory neuropathy	1	1	TMEM43 (5)	0.03125	1.00000	2.013e-3	2.885e-3	
Arthrogryposis with ectodermal dysplasia	Auditory neuropathy	1	0	OTOF (1)	0.03125	1.00000	2.013e-3	2.885e-3	157
Arthrogryposis with ectodermal dysplasia	Congenital ear anomaly	1	0	OTOF (1)	0.03125	1.00000	2.013e-3	2.885e-3	
atypical hemolytic-uremic syndrome with B factor anomaly	Membranous glomerulonephritis	1	1	CFB (2)	0.03125	1.00000	2.013e-3	2.885e-3	
autoimmune lymphoproliferative syndrome type 2B	Seborrheic keratosis	1	1	CASP8 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Caspase 8 deficiency	Seborrheic keratosis	1	1	CASP8 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism	Pontocerebellar hypoplasia	1	1	PRDM13 (4)	0.03125	1.00000	2.013e-3	2.885e-3	
Cerebellar-facial-dental syndrome	Congenital microcephaly	1	1	BRF1 (5)	0.03125	1.00000	2.013e-3	2.885e-3	137
Charcot-Marie-Tooth disease axonal type 2F	Distal spinal muscular atrophy	1	1	HSPB1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Charcot-Marie-Tooth disease axonal type 2F	Hyperplasia	1	1	HSPB1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Charcot-Marie-Tooth disease axonal type 2Z	Distal spinal muscular atrophy	1	1	MORC2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Charcot-Marie-Tooth disease type 2D	Distal spinal muscular atrophy	1	1	GARS1 (2)	0.03125	1.00000	2.013e-3	2.885e-3	13
Charcot-Marie-Tooth disease type 2T	Membranous glomerulonephritis	1	1	MME (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Charcot-Marie-Tooth disease type 4	Distal spinal muscular atrophy	1	1	PRX (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Charcot-Marie-Tooth disease type 4C	Distal spinal muscular atrophy	1	1	SH3TC2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Neuronal ceroid lipofuscinosis	1	1	TPP1 (8)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital isolated acth deficiency	Pituitary stalk interruption syndrome	1	1	TBX19 (4)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital membranous nephropathy	Membranous glomerulonephritis	1	1	MME (3)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital microcephaly	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	1	1	ASNS (5)	0.03125	1.00000	2.013e-3	2.885e-3	
Congenital posterior urethral valves	Seborrheic keratosis	1	1	BNC2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	16
Biliary atresia	Congenitally uncorrected transposition of the great arteries	1	0	CFC1 (1)	0.03125	1.00000	2.013e-3	2.885e-3	
Biliary atresia	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome	1	1	GLIS3 (3)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	brown-vialetto-van laere syndrome 1	1	1	SLC52A3 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Auditory neuropathy	brown-vialetto-van laere syndrome 2	1	1	SLC52A2 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
C9 deficiency	Dermatomyositis	1	1	C9 (2)	0.03125	1.00000	2.013e-3	2.885e-3	
Carboxypeptidase n deficiency	Dermatomyositis	1	1	CPN1 (4)	0.03125	1.00000	2.013e-3	2.885e-3	
Cushing syndrome	Ocular hypertension	2	2	NR3C1 (3), CDH23 (2)	0.02899	0.09524	2.004e-3	2.885e-3	296
Hereditary chronic pancreatitis	Obstructive azoospermia	1	1	CFTR (2)	0.08333	0.25000	2.077e-3	2.954e-3	
Congenital fusion of ribs	Jarcho-levin syndrome	1	0	DLL3 (1)	0.08333	0.25000	2.077e-3	2.954e-3	
Dysphoric mood	Jarcho-levin syndrome	1	0	DLL3 (1)	0.08333	0.25000	2.077e-3	2.954e-3	
Epilepsy with auditory features	Familial focal epilepsy with variable foci	1	1	DEPDC5 (4)	0.08333	0.25000	2.077e-3	2.954e-3	
Paraganglioma	Skeletal muscle disorder	1	0	SDHA (1)	0.08333	0.25000	2.077e-3	2.954e-3	78
Congenital hypothyroidism due to absence of thyroid gland	Spermatocele	1	1	PAX8 (2)	0.08333	0.25000	2.077e-3	2.954e-3	102
Congenital fusion of ribs	Spondylocostal dysostosis	1	1	DLL3 (5)	0.08333	0.25000	2.077e-3	2.954e-3	
Dysphoric mood	Spondylocostal dysostosis	1	1	DLL3 (5)	0.08333	0.25000	2.077e-3	2.954e-3	
B-cell chronic lymphocytic leukemia	Bowen’s disease	1	1	CCND1 (2)	0.08333	0.25000	2.077e-3	2.954e-3	
Connective tissue neoplasm	Coronary syndrome	1	0	LPL (1)	0.08333	0.25000	2.077e-3	2.954e-3	
Chromosomal instability	Houge janssens syndrome	1	1	PPP2R5C (2)	0.08333	0.25000	2.077e-3	2.954e-3	
Cerebrofacioarticular syndrome	Lymphedema	1	1	DCHS1 (2)	0.05556	0.50000	2.077e-3	2.954e-3	
Diffuse gastric adenocarcinoma	Oculoauricular syndrome	1	1	HMX1 (7)	0.05556	0.50000	2.077e-3	2.954e-3	
Dopamine beta-hydroxy­lase deficiency	Pheochromocytoma	1	1	DBH (3)	0.05556	0.50000	2.077e-3	2.954e-3	
Duane-radial ray syndrome	Loeys-dietz syndrome	1	1	IPO8 (2)	0.05556	0.50000	2.077e-3	2.954e-3	
Congenital lamellar cataract	Congenital total cataract	1	0	HSF4 (1)	0.05556	0.50000	2.077e-3	2.954e-3	51
Congenital radioulnar synostosis	Loeys-dietz syndrome	1	1	SMAD6 (2)	0.05556	0.50000	2.077e-3	2.954e-3	
Sweet syndrome	Vacterl association	1	1	PTPN6 (2)	0.05556	0.50000	2.077e-3	2.954e-3	
Congenital anomaly of limb	Townes-brocks syndrome	1	1	SALL1 (6)	0.05556	0.50000	2.077e-3	2.954e-3	
Townes-brocks syndrome	Vacterl association	1	1	SALL1 (6)	0.05556	0.50000	2.077e-3	2.954e-3	
Distal arthrogryposis	Intestinal polyposis	1	1	STK11 (2)	0.05556	0.50000	2.077e-3	2.954e-3	
Congenital anomaly of limb	Omodysplasia	1	1	GPC6 (6)	0.05556	0.50000	2.077e-3	2.954e-3	
Autoimmune neurological syndrome	Periapical periodontitis	1	0	SLC8A1 (1)	0.05556	0.50000	2.077e-3	2.954e-3	
Congenital fibrosis of extraocular muscles	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	1	1	MCM3AP (5)	0.05556	0.50000	2.077e-3	2.954e-3	
Dentinogenesis imperfecta	Peripheral pulmonary artery stenosis	1	0	DLX3 (1)	0.05556	0.50000	2.077e-3	2.954e-3	
Catalepsy	Tyrosine hydroxylase–deficient dopa-responsive dystonia	1	1	TH (3)	0.05556	0.50000	2.077e-3	2.954e-3	
Lymphedema	Van maldergem syndrome	1	1	DCHS1 (6)	0.05556	0.50000	2.077e-3	2.954e-3	
Gliosarcoma	Mountain sickness	1	1	TACC1 (2)	0.05556	0.50000	2.077e-3	2.954e-3	
Factor viii deficiency	Hemophilia a	1	1	F8 (6)	0.05556	0.50000	2.077e-3	2.954e-3	
Fetal erythroblastosis	Hemophilia a	1	0	FCGR2A (1)	0.05556	0.50000	2.077e-3	2.954e-3	36
Intellectual developmental disorder dysmorphic cerebellar	Mitochondrial encephalomyopathy	1	0	CYTB (1)	0.05556	0.50000	2.077e-3	2.954e-3	
hyper-IgE recurrent infection syndrome 5, autosomal recessive	Polyarticular juvenile idiopathic arthritis	1	1	IL6R (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Esophageal atresia	hyperammonemia due to N-acetylglutamate synthase deficiency	1	1	NAGS (2)	0.03030	1.00000	2.078e-3	2.954e-3	
IL21-related infantile inflammatory bowel disease	Polyarticular juvenile idiopathic arthritis	1	1	IL21 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
immunodeficiency 25	Polyarticular juvenile idiopathic arthritis	1	1	CD247 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
immunodeficiency 31b	Polyarticular juvenile idiopathic arthritis	1	1	STAT1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
immunodeficiency 63 with lymphoproliferation and autoimmunity	Polyarticular juvenile idiopathic arthritis	1	1	IL2RB (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Corneal dystrophy	inherited prekallikrein deficiency	1	1	KLKB1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Polyarticular juvenile idiopathic arthritis	Tyrosine kinase 2 deficiency	1	1	TYK2 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	Van esch-o’driscoll syndrome	1	1	POLA1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	White blood cell count quantitative trait locus	1	1	ACKR1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	77
Aplastic anemia	X-linked reticulate pigmentary disorder	1	1	POLA1 (5)	0.03030	1.00000	2.078e-3	2.954e-3	
Interleukin 6 quantitative trait	Polyarticular juvenile idiopathic arthritis	1	1	IL6R (3)	0.03030	1.00000	2.078e-3	2.954e-3	
INTU-related skeletal ciliopathy	Orofaciodigital syndrome	1	1	INTU (5)	0.03030	1.00000	2.078e-3	2.954e-3	
joubert syndrome 17	Orofaciodigital syndrome	1	1	CPLANE1 (7)	0.03030	1.00000	2.078e-3	2.954e-3	
Azoospermia	lamb-shaffer syndrome	1	1	SOX5 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Ectodermal dysplasia	Schopf-schulz-passarge syndrome	1	1	WNT10A (4)	0.03030	1.00000	2.078e-3	2.954e-3	
Ectodermal dysplasia	Sebaceous gland neoplasms	1	1	LEF1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Ectodermal dysplasia	Sebocystomatosis	1	1	KRT17 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	Severe neonatal spondylometaphyseal dysplasia	1	1	SBDS (4)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	Short telomere syndrome	1	1	ACD (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Shukla-vernon syndrome	Wilms tumor	1	1	BCORL1 (5)	0.03030	1.00000	2.078e-3	2.954e-3	81
Thrombomodulin-related bleeding disorder	Thrombophilia	1	1	THBD (7)	0.03030	1.00000	2.078e-3	2.954e-3	36
Thrombophilia	thrombophilia, X-linked, due to factor 9 defect	1	1	F9 (6)	0.03030	1.00000	2.078e-3	2.954e-3	
Orofaciodigital syndrome	TOPORS-related retinopathy	1	1	TOPORS (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Polydactyly-macrocephaly syndrome	Wilms tumor	1	1	MAX (5)	0.03030	1.00000	2.078e-3	2.954e-3	
protein S deficiency	Thrombophilia	1	1	PROS1 (6)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	1	1	ZCCHC8 (2)	0.03030	1.00000	2.078e-3	2.954e-3	77
Aplastic anemia	nijmegen breakage syndrome	1	1	NBN (6)	0.03030	1.00000	2.078e-3	2.954e-3	
Hereditary breast cancer	nijmegen breakage syndrome	1	0	NBN (1)	0.03030	1.00000	2.078e-3	2.954e-3	39
Orofaciodigital syndrome	orofaciodigital syndrome type 14	1	1	C2CD3 (6)	0.03030	1.00000	2.078e-3	2.954e-3	8
Hereditary breast cancer	PALB2-related cancer predisposition	1	1	PALB2 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Ectodermal dysplasia	Papillon-lefevre syndrome	1	1	CTSC (7)	0.03030	1.00000	2.078e-3	2.954e-3	
Ectodermal dysplasia	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	1	1	EDAR (5)	0.03030	1.00000	2.078e-3	2.954e-3	76
Ectodermal dysplasia	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	1	1	KDF1 (6)	0.03030	1.00000	2.078e-3	2.954e-3	76
Ectodermal dysplasia	ectodermal dysplasia WNT10A related	1	1	WNT10A (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Ectodermal dysplasia	EEM syndrome	1	1	CDH3 (4)	0.03030	1.00000	2.078e-3	2.954e-3	
factor XIII, A subunit, deficiency of	Thrombophilia	1	1	F13A1 (4)	0.03030	1.00000	2.078e-3	2.954e-3	
Ectodermal dysplasia	familial acute necrotizing encephalopathy	1	1	RANBP2 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
familial adenomatous polyposis 2	Hereditary breast cancer	1	0	MUTYH (1)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	familial hemophagocytic lymphohistiocytosis 2	1	1	PRF1 (6)	0.03030	1.00000	2.078e-3	2.954e-3	
familial ovarian cancer	Hereditary breast cancer	1	1	BRIP1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	FANCM Fanconi-like genomic instability disorder	1	1	FANCM (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Azoospermia	FANCM Fanconi-like genomic instability disorder	1	1	FANCM (2)	0.03030	1.00000	2.078e-3	2.954e-3	
FANCM Fanconi-like genomic instability disorder	Hereditary breast cancer	1	1	FANCM (2)	0.03030	1.00000	2.078e-3	2.954e-3	
fanconi anemia complementation group j	Hereditary breast cancer	1	1	BRIP1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
fanconi anemia complementation group n	Hereditary breast cancer	1	1	PALB2 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
fanconi anemia complementation group p	Hereditary breast cancer	1	0	SLX4 (1)	0.03030	1.00000	2.078e-3	2.954e-3	39
Fanconi anemia complementation group U	Hereditary breast cancer	1	1	XRCC2 (2)	0.03030	1.00000	2.078e-3	2.954e-3	39
Corneal dystrophy	gapo syndrome	1	1	ANTXR1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	Genetic lipodystrophy	1	0	EPHX1 (1)	0.03030	1.00000	2.078e-3	2.954e-3	
Esophageal atresia	Genetic syndromic pierre robin syndrome	1	0	EFTUD2 (1)	0.03030	1.00000	2.078e-3	2.954e-3	
Corneal dystrophy	Groenouw corneal dystrophy	1	1	TGFBI (4)	0.03030	1.00000	2.078e-3	2.954e-3	
Corneal dystrophy	Growth retardation, alopecia, pseudoanodontia and optic atrophy	1	1	ANTXR1 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Heart defect, tongue hamartoma and polysyndactyly	Orofaciodigital syndrome	1	1	WDPCP (4)	0.03030	1.00000	2.078e-3	2.954e-3	8
Hemophilia a carriers	Thrombophilia	1	1	F8 (5)	0.03030	1.00000	2.078e-3	2.954e-3	
Hemophilia b carriers	Thrombophilia	1	1	F9 (7)	0.03030	1.00000	2.078e-3	2.954e-3	
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Thrombophilia	1	1	HRG (4)	0.03030	1.00000	2.078e-3	2.954e-3	36
Coronary aneurysm	MAN1B1-congenital disorder of glycosylation	1	1	MAN1B1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Esophageal atresia	mandibulofacial dysostosis-microcephaly syndrome	1	1	EFTUD2 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	Polyarticular juvenile idiopathic arthritis	1	1	STAT1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Hereditary breast cancer	microcephaly with intellectual disability	1	1	MCPH1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
microphthalmia, syndromic 2	Wilms tumor	1	1	BCOR (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Corneal dystrophy	mucolipidosis type IV	1	1	MCOLN1 (4)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	mucopolysaccharidosis type 2	1	1	IDS (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Nasodigitoacoustic syndrome	Wilms tumor	1	1	GPC4 (4)	0.03030	1.00000	2.078e-3	2.954e-3	
Congenital hypotrichosis with juvenile macular dystrophy	Ectodermal dysplasia	1	1	CDH3 (5)	0.03030	1.00000	2.078e-3	2.954e-3	
Congenital malformation of cornea	Corneal dystrophy	1	0	KERA (1)	0.03030	1.00000	2.078e-3	2.954e-3	
congenital myasthenic syndrome 2A	Corneal dystrophy	1	1	CHRNB1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
congenital myasthenic syndrome 2C	Corneal dystrophy	1	1	CHRNB1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Congenital prekallikrein deficiency	Corneal dystrophy	1	1	KLKB1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Congenital tufting enteropathy	Hereditary breast cancer	1	1	EPCAM (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Cornea plana	Corneal dystrophy	1	1	KERA (5)	0.03030	1.00000	2.078e-3	2.954e-3	
Coronary aneurysm	Intellectual developmental disorder expressive speech dysmorphic	1	1	SETBP1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	341
Coronary aneurysm	Schinzel-Giedion syndrome	1	1	SETBP1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	341
Coronary aneurysm	Palmoplantar keratoderma with congenital alopecia	1	1	GJA1 (5)	0.03030	1.00000	2.078e-3	2.954e-3	
Curly hair ankyloblepharon nail dysplasia syndrome	Ectodermal dysplasia	1	1	RIPK4 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Chromodomain helicase dna binding protein 8 overgrowth syndrome	Gastrointestinal disease	1	1	CHD8 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Chromosome 5q12 deletion syndrome	Esophageal atresia	1	0	PDE4D (1)	0.03030	1.00000	2.078e-3	2.954e-3	
Cleft lip/palate-ectodermal dysplasia syndrome	Ectodermal dysplasia	1	1	NECTIN1 (6)	0.03030	1.00000	2.078e-3	2.954e-3	
COG6-congenital disorder of glycosylation	Polyarticular juvenile idiopathic arthritis	1	1	COG6 (2)	0.03030	1.00000	2.078e-3	2.954e-3	320
Colorectal adenomatous polyposis	Hereditary breast cancer	1	1	MUTYH (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Congenital cornea plana	Corneal dystrophy	1	1	KERA (2)	0.03030	1.00000	2.078e-3	2.954e-3	
12p12.1 microdeletion syndrome	Azoospermia	1	1	SOX5 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Absence of fingerprints-congenital milia syndrome	Ectodermal dysplasia	1	1	SMARCAD1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	76
ACD-related short telomere syndrome	Aplastic anemia	1	1	ACD (4)	0.03030	1.00000	2.078e-3	2.954e-3	
amyotrophic lateral sclerosis, susceptibility to, 24	Orofaciodigital syndrome	1	1	NEK1 (4)	0.03030	1.00000	2.078e-3	2.954e-3	
Anhidrotic ectodermal dysplasia	Ectodermal dysplasia	1	1	EDA (3)	0.03030	1.00000	2.078e-3	2.954e-3	76
Aplastic anemia	DDX41-related hematologic malignancy predisposition syndrome	1	1	DDX41 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Aplastic anemia	diamond-blackfan anemia 6	1	1	RPL5 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Coronary aneurysm	Dock2 deficiency	1	1	DOCK2 (4)	0.03030	1.00000	2.078e-3	2.954e-3	341
Dubin-johnson syndrome	Gastrointestinal disease	1	1	ABCC2 (5)	0.03030	1.00000	2.078e-3	2.954e-3	
Autoimmune enteropathy and endocrinopathy	Polyarticular juvenile idiopathic arthritis	1	1	STAT1 (4)	0.03030	1.00000	2.078e-3	2.954e-3	
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	Polyarticular juvenile idiopathic arthritis	1	1	STAT1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	
Avellino corneal dystrophy	Corneal dystrophy	1	1	TGFBI (4)	0.03030	1.00000	2.078e-3	2.954e-3	
BARD1-related cancer predisposition	Hereditary breast cancer	1	1	BARD1 (2)	0.03030	1.00000	2.078e-3	2.954e-3	39
Brainstem atrophy	Corneal dystrophy	1	1	MCOLN1 (3)	0.03030	1.00000	2.078e-3	2.954e-3	
Cleidocranial dysplasia	Diffuse idiopathic skeletal hyperostosis	1	1	SUPT3H (2)	0.07143	0.33333	2.142e-3	3.028e-3	
Concentric hypertrophic cardiomyopathy	Short qt syndrome	1	1	CACNA1C (3)	0.07143	0.33333	2.142e-3	3.028e-3	
Benign mucous membrane pemphigoid with ocular involvement	Congenital pulmonary artery atresia	1	0	HLA-DRB1 (1)	0.07143	0.33333	2.142e-3	3.028e-3	
Bouillaud’s disease	Congenital pulmonary artery atresia	1	0	HLA-DRB1 (1)	0.07143	0.33333	2.142e-3	3.028e-3	
Central precocious puberty	Estrogen resistance	1	1	ESR1 (6)	0.07143	0.33333	2.142e-3	3.028e-3	
Arterial tortuosity syndrome	Auditory system disease	1	1	SLC2A10 (7)	0.07143	0.33333	2.142e-3	3.028e-3	
Heparin cofactor 2 deficiency	Post-operative acute kidney injury	1	1	EIF4G3 (2)	0.07143	0.33333	2.142e-3	3.028e-3	
Hyperphosphatasia with intellectual disability syndrome	Intellectual developmental disorder dysmorphic facial	1	1	SETD5 (3)	0.07143	0.33333	2.142e-3	3.028e-3	355
Central serous retinopathy	Throat disease	1	0	GATA5 (1)	0.07143	0.33333	2.142e-3	3.028e-3	32
Hypoxia	Sarcosine dehydrogenase deficiency	1	1	SARDH (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Hypoxia	Sarcosinemia	1	1	SARDH (5)	0.02941	1.00000	2.143e-3	3.028e-3	
Hemolytic uremic syndrome	schimke immuno-osseous dysplasia	1	1	SMARCAL1 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Osteochondrodysplasias	Schmid metaphyseal chondrodysplasia	1	1	COL10A1 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Chloracne	Sebocystomatosis	1	1	KRT17 (4)	0.02941	1.00000	2.143e-3	3.028e-3	
Colitis	severe combined immunodeficiency due to CARMIL2 deficiency	1	1	CARMIL2 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Jeune thoracic dystrophy	short-rib thoracic dysplasia 11 with or without polydactyly	1	1	DYNC2I2 (2)	0.02941	1.00000	2.143e-3	3.028e-3	19
Jeune thoracic dystrophy	short-rib thoracic dysplasia 16 with or without polydactyly	1	1	IFT52 (2)	0.02941	1.00000	2.143e-3	3.028e-3	19
Jeune thoracic dystrophy	short-rib thoracic dysplasia 17 with or without polydactyly	1	1	DYNLT2B (2)	0.02941	1.00000	2.143e-3	3.028e-3	19
Jeune thoracic dystrophy	short-rib thoracic dysplasia 19 with or without polydactyly	1	1	IFT81 (2)	0.02941	1.00000	2.143e-3	3.028e-3	19
Jeune thoracic dystrophy	short-rib thoracic dysplasia 8 with or without polydactyly	1	1	DYNC2I1 (2)	0.02941	1.00000	2.143e-3	3.028e-3	19
Rod-cone dystrophy	SNRNP200-related dominant retinopathy	1	1	SNRNP200 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Colitis	sorsby fundus dystrophy	1	1	TIMP3 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Osteochondrodysplasias	Stickler syndrome, type 4	1	1	COL9A1 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Chloracne	thrombocytopenia 4	1	1	CYCS (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Colitis	thrombocytopenia 6	1	1	SRC (3)	0.02941	1.00000	2.143e-3	3.028e-3	43
Hemolytic uremic syndrome	Thrombomodulin-related bleeding disorder	1	1	THBD (6)	0.02941	1.00000	2.143e-3	3.028e-3	
Hyperthermia	Transitional cell carcinoma	1	0	GPX1 (1)	0.02941	1.00000	2.143e-3	3.028e-3	
Chloracne	immunodeficiency 123 with hpv-related verrucosis	1	1	CD28 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Colitis	inflammatory skin and bowel disease, neonatal, 1	1	1	ADAM17 (3)	0.02941	1.00000	2.143e-3	3.028e-3	43
MCM9-related gametogenic failure	Testicular azoospermia	1	1	MCM9 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Hemolytic uremic syndrome	membranoproliferative glomerulonephritis	1	1	DGKE (5)	0.02941	1.00000	2.143e-3	3.028e-3	
Hemolytic uremic syndrome	methylmalonic aciduria and homocystinuria type cblC	1	1	MMACHC (2)	0.02941	1.00000	2.143e-3	3.028e-3	
microphthalmia, syndromic 2	Sarcoma	1	1	BCOR (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Jeune thoracic dystrophy	nephronophthisis 12	1	1	TTC21B (2)	0.02941	1.00000	2.143e-3	3.028e-3	19
INTU-related skeletal ciliopathy	Jeune thoracic dystrophy	1	1	INTU (2)	0.02941	1.00000	2.143e-3	3.028e-3	19
joubert syndrome 21	Meckel-gruber syndrome	1	1	CSPP1 (4)	0.02941	1.00000	2.143e-3	3.028e-3	8
joubert syndrome 24	Meckel-gruber syndrome	1	1	TCTN2 (6)	0.02941	1.00000	2.143e-3	3.028e-3	8
joubert syndrome 3	Rod-cone dystrophy	1	1	AHI1 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
kabuki syndrome 2	Transitional cell carcinoma	1	1	KDM6A (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Hemolytic uremic syndrome	Upshaw-schulman syndrome	1	1	ADAMTS13 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Chloracne	Uridine monophosphate hydrolase deficiency	1	1	NT5C3A (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Bronchitis	Urinary bladder dysfunction	1	1	CHRNA3 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Peripheral vascular disease	Urinary bladder dysfunction	1	1	CHRNA3 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Hypoxia	Wernicke encephalopathy	1	1	TKT (2)	0.02941	1.00000	2.143e-3	3.028e-3	23
Transitional cell carcinoma	Xq25 microduplication syndrome	1	1	STAG2 (4)	0.02941	1.00000	2.143e-3	3.028e-3	
Bronchitis	Young syndrome	1	1	CFAP221 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
PROM1-related dominant retinopathy	Transitional cell carcinoma	1	1	PROM1 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
PROM1-related recessive retinopathy	Transitional cell carcinoma	1	1	PROM1 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Hyperkinesia	Prostatic disease	1	1	OXT (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Osteochondrodysplasias	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	1	1	HOXA11 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
retinitis pigmentosa 47	Uveitis	1	1	SAG (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Osteochondrodysplasias	Rhizomelic dysplasia, ain-naz type	1	1	GNPNAT1 (3)	0.02941	1.00000	2.143e-3	3.028e-3	44
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Transitional cell carcinoma	1	1	EP300 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
GNPTG-mucolipidosis	Rod-cone dystrophy	1	1	GNPTG (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Hemolytic uremic syndrome	hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	1	1	C1GALT1C1 (5)	0.02941	1.00000	2.143e-3	3.028e-3	32
hereditary fructose intolerance	Hypoxia	1	1	ALDOB (2)	0.02941	1.00000	2.143e-3	3.028e-3	23
Bronchitis	Neurodevelopmental disorder with dilated cardiomyopathy	1	0	CAMK2D (1)	0.02941	1.00000	2.143e-3	3.028e-3	
Hyperkinesia	neurodevelopmental disorder with language impairment and behavioral abnormalities	1	1	GRIA2 (3)	0.02941	1.00000	2.143e-3	3.028e-3	66
obsolete Stüve-Wiedemann syndrome	Osteochondrodysplasias	1	1	LIFR (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Jeune thoracic dystrophy	orofaciodigital syndrome type 14	1	1	C2CD3 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Parkinson-dementia syndrome	Temporal lobe epilepsy	1	1	MAPT (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Dyggve-melchior-clausen syndrome	Osteochondrodysplasias	1	1	DYM (5)	0.02941	1.00000	2.143e-3	3.028e-3	
Chloracne	dyskeratosis congenita and related telomere biology disorder	1	1	RPA1 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Early-onset obesity-hyperphagia-severe developmental delay syndrome	Hyperkinesia	1	1	NTRK2 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	Hyperkinesia	1	1	AFG3L2 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Bronchitis	Expressive language delay	1	1	KLF7 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Familial telangiectasia cancer syndrome	Sarcoma	1	1	ATR (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Fanconi anemia complementation group C	Peripheral vascular disease	1	1	FANCC (2)	0.02941	1.00000	2.143e-3	3.028e-3	
atypical hemolytic-uremic syndrome with DGKE deficiency	Hemolytic uremic syndrome	1	1	DGKE (5)	0.02941	1.00000	2.143e-3	3.028e-3	
Congenital limbs-face contractures-hypotonia-developmental delay syndrome	Temporal lobe epilepsy	1	1	NALCN (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Cortical dysplasia-focal epilepsy syndrome	Hyperkinesia	1	1	CNTNAP2 (4)	0.02941	1.00000	2.143e-3	3.028e-3	
Benign mesial temporal lobe epilepsy	Temporal lobe epilepsy	1	1	CPA6 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Bladder dysfunction	Bronchitis	1	1	CHRNA3 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Bladder dysfunction	Peripheral vascular disease	1	1	CHRNA3 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Bone dysplasia with increased bone density	Osteochondrodysplasias	1	1	SOST (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome	Sarcoma	1	1	BPTF (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Bronchitis	CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy	1	1	CAMK2D (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Comp-related skeletal dysplasia	Osteochondrodysplasias	1	1	COMP (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Temporal lobe epilepsy	1	1	NALCN (4)	0.02941	1.00000	2.143e-3	3.028e-3	
Cervical dystonia	Sarcoma	1	0	CIZ1 (1)	0.02941	1.00000	2.143e-3	3.028e-3	
Chondromyxoid fibroma	Temporal lobe epilepsy	1	1	GRM1 (3)	0.02941	1.00000	2.143e-3	3.028e-3	
Chromosome 16p13.3 deletion syndrome	Transitional cell carcinoma	1	1	CREBBP (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Chromosome 5q deletion syndrome	Hypoxia	1	1	RPS14 (2)	0.02941	1.00000	2.143e-3	3.028e-3	23
Chromosome xq25 duplication syndrome	Transitional cell carcinoma	1	1	STAG2 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Adenosine kinase deficiency	Hypoxia	1	1	ADK (3)	0.02941	1.00000	2.143e-3	3.028e-3	
AFG3L2-related optic atrophy and/or spastic ataxia spectrum	Hyperkinesia	1	1	AFG3L2 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Anus neoplasms	Transitional cell carcinoma	1	0	IFNB1 (1)	0.02941	1.00000	2.143e-3	3.028e-3	4
Delpire-mcneill syndrome	Temporal lobe epilepsy	1	1	SLC12A2 (4)	0.02941	1.00000	2.143e-3	3.028e-3	
Developmental delay with or without epilepsy	Jeune thoracic dystrophy	1	1	SPTAN1 (3)	0.02941	1.00000	2.143e-3	3.028e-3	19
Dicarboxylic aminoaciduria	Temporal lobe epilepsy	1	1	SLC1A1 (7)	0.02941	1.00000	2.143e-3	3.028e-3	
Dicarboxylicaminoaciduria	Temporal lobe epilepsy	1	1	SLC1A1 (2)	0.02941	1.00000	2.143e-3	3.028e-3	
Congenital disorder of glycosylation	Myasthenic syndrome	3	3	ALG2 (4), ALG14 (4), DPAGT1 (6)	0.02190	0.07500	2.143e-3	3.029e-3	5
Cochlear diseases	Male reproductive organ cancer	1	1	PCDH15 (3)	0.05263	0.50000	2.207e-3	3.100e-3	
Bronchiectasis	Congenital bilateral absence of vas deferens	1	1	CFTR (6)	0.05263	0.50000	2.207e-3	3.100e-3	
Brachydactyly-elbow wrist dysplasia syndrome	Micrognathism	1	1	PITX1 (2)	0.05263	0.50000	2.207e-3	3.100e-3	
Bradyopsia	Substance-induced psychosis	1	1	RGS9 (4)	0.05263	0.50000	2.207e-3	3.100e-3	
Asbestosis	Cyclic neutropenia	1	1	CFD (2)	0.05263	0.50000	2.207e-3	3.100e-3	
Complement component deficiency	Cyclic neutropenia	1	1	CFD (3)	0.05263	0.50000	2.207e-3	3.100e-3	
Congenital neutropenia	Cyclic neutropenia	1	1	ELANE (5)	0.05263	0.50000	2.207e-3	3.100e-3	
Dementia in huntington’s disease	Prion disease	1	1	PRNP (3)	0.05263	0.50000	2.207e-3	3.100e-3	33
Asbestosis	Dopamine beta-hydroxy­lase deficiency	1	1	HSPA5 (2)	0.05263	0.50000	2.207e-3	3.100e-3	
Chromosome 2q32-q33 deletion syndrome	Micrognathism	1	1	SATB2 (3)	0.05263	0.50000	2.207e-3	3.100e-3	197
Dysautonomia	Gaucher disease	1	1	ELP1 (3)	0.05263	0.50000	2.207e-3	3.100e-3	
Fanconi-bickel syndrome	Neonatal diabetes mellitus	1	1	SLC2A2 (5)	0.05263	0.50000	2.207e-3	3.100e-3	35
Male reproductive organ cancer	Paramyotonia congenita	1	1	SCN4A (5)	0.05263	0.50000	2.207e-3	3.100e-3	170
Micrognathism	non-severe combined immunodeficiency due to polymerase delta deficiency	1	1	POLD1 (2)	0.05263	0.50000	2.207e-3	3.100e-3	
Gaucher disease	Parkinsonian-pyramidal syndrome	1	1	SNCA (3)	0.05263	0.50000	2.207e-3	3.100e-3	
Parkinsonian-pyramidal syndrome	Substance-induced psychosis	1	1	SNCA (2)	0.05263	0.50000	2.207e-3	3.100e-3	
Complement component deficiency	Periodontal ehlers-danlos syndrome	1	1	C1S (6)	0.05263	0.50000	2.207e-3	3.100e-3	
Dentin dysplasia	Peripheral pulmonary artery stenosis	1	0	DLX3 (1)	0.05263	0.50000	2.207e-3	3.100e-3	
Atrioventricular block	Post-operative myocardial infarction	1	0	FHIT (1)	0.05263	0.50000	2.207e-3	3.100e-3	
Gaucher disease	Pyruvate kinase deficiency	1	0	PKLR (1)	0.05263	0.50000	2.207e-3	3.100e-3	
Chondrodysplasia	Refsum disease	1	1	PEX7 (3)	0.05263	0.50000	2.207e-3	3.100e-3	
Coffin-siris syndrome	Rhabdoid tumor	1	1	SMARCB1 (6)	0.05263	0.50000	2.207e-3	3.100e-3	299
Female restricted epilepsy with intellectual disability	Strabismus	1	1	PCDH19 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
focal segmental glomerulosclerosis 3, susceptibility to	Genetic steroid-resistant nephrotic syndrome	1	1	CD2AP (2)	0.02857	1.00000	2.208e-3	3.100e-3	
focal segmental glomerulosclerosis 3, susceptibility to	Hereditary steroid-resistant nephrotic syndrome	1	1	CD2AP (2)	0.02857	1.00000	2.208e-3	3.100e-3	
FOXG1 disorder	Strabismus	1	1	FOXG1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Schizoaffective disorder	1	1	C9orf72 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
marshall-smith syndrome	Strabismus	1	1	NFIX (2)	0.02857	1.00000	2.208e-3	3.100e-3	287
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 12	1	1	NUP93 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 12	1	1	NUP93 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 13	1	1	NUP205 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 13	1	1	NUP205 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 18	1	1	NUP133 (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 18	1	1	NUP133 (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 19	1	1	NUP160 (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 19	1	1	NUP160 (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 20	1	1	TBC1D8B (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 20	1	1	TBC1D8B (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 21	1	1	AVIL (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 21	1	1	AVIL (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 3	1	1	PLCE1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 3	1	1	PLCE1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Genetic steroid-resistant nephrotic syndrome	nephrotic syndrome, type 8	1	1	ARHGDIA (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Hereditary steroid-resistant nephrotic syndrome	nephrotic syndrome, type 8	1	1	ARHGDIA (2)	0.02857	1.00000	2.208e-3	3.100e-3	20
Lymphocytic b-cell leukemia	Sebaceous gland neoplasms	1	0	LEF1 (1)	0.02857	1.00000	2.208e-3	3.100e-3	
Growth hormone deficiency	TCF12-related craniosynostosis	1	1	TCF12 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Pituitary short stature	TCF12-related craniosynostosis	1	1	TCF12 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Lymphocytic b-cell leukemia	TFRC-related combined immunodeficiency	1	1	TFRC (2)	0.02857	1.00000	2.208e-3	3.100e-3	
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome	Sepsis	1	1	HMGB1 (3)	0.02857	1.00000	2.208e-3	3.100e-3	
Growth hormone deficiency	hypogonadotropic hypogonadism 1 with or without anosmia	1	1	ANOS1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
hypogonadotropic hypogonadism 1 with or without anosmia	Pituitary short stature	1	1	ANOS1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
hypogonadotropic hypogonadism 1 with or without anosmia	Sheehan syndrome	1	1	ANOS1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Growth hormone deficiency	hypogonadotropic hypogonadism 3 with or without anosmia	1	1	PROKR2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
hypogonadotropic hypogonadism 3 with or without anosmia	Pituitary short stature	1	1	PROKR2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Growth hormone deficiency	hypogonadotropic hypogonadism 4 with or without anosmia	1	1	PROK2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	58
hypogonadotropic hypogonadism 4 with or without anosmia	Pituitary short stature	1	1	PROK2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	58
hypogonadotropic hypogonadism 4 with or without anosmia	Sheehan syndrome	1	1	PROK2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	58
Genetic steroid-resistant nephrotic syndrome	idiopathic multidrug-resistant nephrotic syndrome	1	1	DAAM2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Hereditary steroid-resistant nephrotic syndrome	idiopathic multidrug-resistant nephrotic syndrome	1	1	DAAM2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
immunodeficiency-centromeric instability-facial anomalies syndrome 3	Triple negative breast cancer	1	1	CDCA7 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Genetic steroid-resistant nephrotic syndrome	inherited focal segmental glomerulosclerosis	1	1	CD2AP (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Hereditary steroid-resistant nephrotic syndrome	inherited focal segmental glomerulosclerosis	1	1	CD2AP (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Strabismus	Troyer syndrome	1	1	SPART (4)	0.02857	1.00000	2.208e-3	3.100e-3	
Growth hormone deficiency	Waardenburg syndrome type 4C	1	1	SOX10 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Genetic steroid-resistant nephrotic syndrome	Woolly hair-palmoplantar keratoderma syndrome	1	1	KANK2 (3)	0.02857	1.00000	2.208e-3	3.100e-3	20
Hereditary steroid-resistant nephrotic syndrome	Woolly hair-palmoplantar keratoderma syndrome	1	1	KANK2 (3)	0.02857	1.00000	2.208e-3	3.100e-3	20
Growth hormone deficiency	X-linked agammaglobulinemia	1	1	BTK (3)	0.02857	1.00000	2.208e-3	3.100e-3	
Growth hormone deficiency	X-linked hypogammaglobulinemia	1	0	BTK (1)	0.02857	1.00000	2.208e-3	3.100e-3	
Sepsis	X-linked lymphoproliferative disease due to XIAP deficiency	1	1	XIAP (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Growth hormone deficiency	Yemenite deaf-blind hypopigmentation syndrome	1	0	SOX10 (1)	0.02857	1.00000	2.208e-3	3.100e-3	
neurodevelopmental disorder with severe motor impairment and absent language	Strabismus	1	1	DHX30 (2)	0.02857	1.00000	2.208e-3	3.100e-3	287
pediatric systemic lupus erythematosus	Schizoaffective disorder	1	1	SAT1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Panic disorder	Pemphigus foliaceus	1	0	RAN (1)	0.02857	1.00000	2.208e-3	3.100e-3	2
intellectual disability, autosomal dominant 42	Strabismus	1	1	GNB1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
krabbe disease	Strabismus	1	1	GALC (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Malan overgrowth syndrome	Strabismus	1	1	NFIX (2)	0.02857	1.00000	2.208e-3	3.100e-3	287
Malan syndrome	Strabismus	1	1	NFIX (6)	0.02857	1.00000	2.208e-3	3.100e-3	287
Groenouw corneal dystrophy	Sepsis	1	1	TGFBI (3)	0.02857	1.00000	2.208e-3	3.100e-3	
Charcot-Marie-Tooth disease dominant intermediate E	Genetic steroid-resistant nephrotic syndrome	1	1	INF2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Charcot-Marie-Tooth disease dominant intermediate E	Hereditary steroid-resistant nephrotic syndrome	1	1	INF2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Congenital cranial dysinnervation disorder	Schizoaffective disorder	1	1	NEUROG1 (3)	0.02857	1.00000	2.208e-3	3.100e-3	
Autoinflammation, antibody deficiency, and immune dysregulation	Lymphocytic b-cell leukemia	1	1	PLCG2 (3)	0.02857	1.00000	2.208e-3	3.100e-3	
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	Lymphocytic b-cell leukemia	1	1	PLCG2 (4)	0.02857	1.00000	2.208e-3	3.100e-3	
Avellino corneal dystrophy	Sepsis	1	1	TGFBI (3)	0.02857	1.00000	2.208e-3	3.100e-3	
bardet-biedl syndrome 16	Schizoaffective disorder	1	1	SDCCAG8 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Congenital nephrotic syndrome	Genetic steroid-resistant nephrotic syndrome	1	1	NPHS1 (4)	0.02857	1.00000	2.208e-3	3.100e-3	
congenital nephrotic syndrome, Finnish type	Genetic steroid-resistant nephrotic syndrome	1	1	NPHS1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Cryptogenic multifocal ulcerous stenosing enteritis	Schizoaffective disorder	1	1	PLA2G4A (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	Schizoaffective disorder	1	1	PLA2G4A (5)	0.02857	1.00000	2.208e-3	3.100e-3	
Deaf blind hypopigmentation syndrome	Growth hormone deficiency	1	1	SOX10 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Developmental delay with facial dysmorphism syndrome	Strabismus	1	1	MED13L (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Dna2-related mitochondrial dna deletion syndrome	Growth hormone deficiency	1	1	DNA2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Dna2-related mitochondrial dna deletion syndrome	Pituitary short stature	1	1	DNA2 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Dock2 deficiency	Triple negative breast cancer	1	1	DOCK2 (4)	0.02857	1.00000	2.208e-3	3.100e-3	
19p13.3 microduplication syndrome	Strabismus	1	1	NFIX (2)	0.02857	1.00000	2.208e-3	3.100e-3	287
bone marrow failure syndrome 6	Triple negative breast cancer	1	1	MDM4 (2)	0.02857	1.00000	2.208e-3	3.100e-3	38
Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome	Sepsis	1	1	HMGB1 (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Brunet-wagner neurodevelopmental syndrome	Lymphocytic b-cell leukemia	1	1	RBL2 (5)	0.02857	1.00000	2.208e-3	3.100e-3	
Brunner syndrome	Panic disorder	1	1	MAOA (5)	0.02857	1.00000	2.208e-3	3.100e-3	
Bruton type agammaglobulinemia	Growth hormone deficiency	1	1	BTK (4)	0.02857	1.00000	2.208e-3	3.100e-3	
Bruton-type agammaglobulinemia	Growth hormone deficiency	1	1	BTK (2)	0.02857	1.00000	2.208e-3	3.100e-3	
Cardiac anomalies - developmental delay - facial dysmorphism syndrome	Strabismus	1	1	MED13L (3)	0.02857	1.00000	2.208e-3	3.100e-3	
Coronary aneurysm	Schizoaffective disorder	2	0	CSMD1 (1), NRXN3 (1)	0.03077	0.06250	2.252e-3	3.161e-3	
Autosomal recessive ataxia	Emery-dreifuss muscular dystrophy	1	1	SYNE1 (7)	0.08333	0.20000	2.271e-3	3.177e-3	
Cerebellar atrophy with seizures and variable developmental delay	Gingival diseases	1	1	KCNMA1 (4)	0.08333	0.20000	2.271e-3	3.177e-3	
Benign hereditary chorea	Cerebellar atrophy with seizures and variable developmental delay	1	1	CACNA2D2 (4)	0.08333	0.20000	2.271e-3	3.177e-3	
complex hereditary spastic paraplegia	Paraplegia	1	1	VPS37A (2)	0.08333	0.20000	2.271e-3	3.177e-3	
Bronchopneumonia	Congenital cardiovascular anomaly	1	0	SERTM1 (1)	0.08333	0.20000	2.271e-3	3.177e-3	
Graft versus host disease	Pseudoxanthoma elasticum	1	1	XYLT1 (2)	0.08333	0.20000	2.271e-3	3.177e-3	
Congenital deformity of clavicle	Neuropathy, congenital hypomyelinating	1	1	CNTNAP1 (3)	0.08333	0.20000	2.271e-3	3.177e-3	
Osteolysis	Paget disease	1	1	TNFRSF11B (2)	0.08333	0.20000	2.271e-3	3.177e-3	
Bronchiolitis obliterans	Peritonitis	1	1	IFNG (2)	0.08333	0.20000	2.271e-3	3.177e-3	
Glucose-6-phosphate dehydrogenase deficiency	Peritonitis	1	1	IFNG (2)	0.08333	0.20000	2.271e-3	3.177e-3	12
Benign prostatic hyperplasia	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	1	1	UNC13A (2)	0.02778	1.00000	2.273e-3	3.177e-3	
neurodevelopmental disorder with microcephaly, ataxia, and seizures	Primary microcephaly	1	1	SARS1 (3)	0.02778	1.00000	2.273e-3	3.177e-3	
Benign prostatic hyperplasia	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	1	1	UNC13A (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Esophageal adenocarcinoma	occult macular dystrophy	1	1	RP1L1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
17,20-lyase deficiency	Ovarian cysts	1	1	CYP17A1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Ovarian cysts	Steroid 17-alpha-monooxygenase deficiency	1	1	CYP17A1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Growth disorder	Pelviscapular dysplasia	1	1	TBX15 (5)	0.02778	1.00000	2.273e-3	3.177e-3	
Atrial septal defect	holt-oram syndrome	1	1	TBX5 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Hyperekplexia epilepsy syndrome	X-linked complex neurodevelopmental disorder	1	1	ARHGEF9 (4)	0.02778	1.00000	2.273e-3	3.177e-3	129
immunodeficiency, common variable, 12	Ovarian cysts	1	1	NFKB1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
immunodeficiency, common variable, 5	Ovarian cysts	1	1	MS4A1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	193
microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Primary microcephaly	1	1	WDR62 (4)	0.02778	1.00000	2.273e-3	3.177e-3	
microcephaly 26, primary, autosomal dominant	Primary microcephaly	1	1	LMNB1 (4)	0.02778	1.00000	2.273e-3	3.177e-3	
microcephaly with intellectual disability	Primary microcephaly	1	1	MCPH1 (4)	0.02778	1.00000	2.273e-3	3.177e-3	
microcephaly with or without short stature	Primary microcephaly	1	1	CEP152 (4)	0.02778	1.00000	2.273e-3	3.177e-3	137
Growth disorder	mosaic variegated aneuploidy syndrome 1	1	1	BUB1B (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Ovarian cysts	platelet-type bleeding disorder 12	1	1	PTGS1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Atrial septal defect	renpenning syndrome	1	1	PQBP1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	41
Growth disorder	renpenning syndrome	1	1	PQBP1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	41
Atrial septal defect	Right hypoplastic heart syndrome	1	1	TBX20 (6)	0.02778	1.00000	2.273e-3	3.177e-3	41
Benign prostatic hyperplasia	RNASEH2B-related type 1 interferonopathy	1	1	RNASEH2B (2)	0.02778	1.00000	2.273e-3	3.177e-3	
EEM syndrome	Ovarian cysts	1	1	CDH3 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Female restricted epilepsy with intellectual disability	X-linked complex neurodevelopmental disorder	1	1	PCDH19 (3)	0.02778	1.00000	2.273e-3	3.177e-3	
frank-ter haar syndrome	Growth disorder	1	1	SH3PXD2B (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Atrial septal defect	Say meyer syndrome	1	0	HUWE1 (1)	0.02778	1.00000	2.273e-3	3.177e-3	
Ovarian cysts	Sleep deprivation	1	0	PTGS1 (1)	0.02778	1.00000	2.273e-3	3.177e-3	
Primary microcephaly	Trichiasis	1	1	MCM7 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Esophageal adenocarcinoma	Ulnar-fibular ray defect and brachydactyly	1	1	RP1L1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Benign prostatic hyperplasia	Ulnar-mammary syndrome	1	1	TBX3 (7)	0.02778	1.00000	2.273e-3	3.177e-3	
Benign prostatic hyperplasia	Uterine benign neoplasm	1	0	BET1L (1)	0.02778	1.00000	2.273e-3	3.177e-3	138
Atrial septal defect	vertebral anomalies and variable endocrine and t-cell dysfunction	1	1	TBX2 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Ovarian cysts	Vesiculobullous skin disease	1	1	PRKN (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Benign prostatic hyperplasia	vitamin K-dependent clotting factors, combined deficiency of, type 1	1	1	GGCX (2)	0.02778	1.00000	2.273e-3	3.177e-3	
X-linked complex neurodevelopmental disorder	X-linked epilepsy with learning disability and behavior disorder syndrome	1	1	SYN1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
X-linked complex neurodevelopmental disorder	X-linked epilepsy with variable learning disabilities and behavior disorders	1	1	SYN1 (5)	0.02778	1.00000	2.273e-3	3.177e-3	
X-linked complex neurodevelopmental disorder	X-linked epilepsy-learning disabilities-behavior disorders syndrome	1	1	SYN1 (3)	0.02778	1.00000	2.273e-3	3.177e-3	
Benign prostatic hyperplasia	Body skin hyperlaxity	1	1	GGCX (4)	0.02778	1.00000	2.273e-3	3.177e-3	
Bosch-boonstra-schaaf optic atrophy syndrome	Ovarian cysts	1	1	NR2F1 (5)	0.02778	1.00000	2.273e-3	3.177e-3	193
Cataract-growth hormone deficiency-skeletal dysplasia syndrome	Ovarian cysts	1	1	IARS2 (5)	0.02778	1.00000	2.273e-3	3.177e-3	193
CBL-related disorder	Growth disorder	1	1	CBL (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Benign prostatic hyperplasia	Cerebellar vermis atrophy	1	1	SYN3 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Chops syndrome	Growth disorder	1	1	AFF4 (3)	0.02778	1.00000	2.273e-3	3.177e-3	
Congenital hypotrichosis with juvenile macular dystrophy	Ovarian cysts	1	1	CDH3 (3)	0.02778	1.00000	2.273e-3	3.177e-3	
Benign prostatic hyperplasia	Coronary vessel anomalies	1	1	GCLC (3)	0.02778	1.00000	2.273e-3	3.177e-3	
Cousin syndrome	Growth disorder	1	1	TBX15 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Atrial septal defect	Bafopathy	1	1	ACTL6A (2)	0.02778	1.00000	2.273e-3	3.177e-3	
bamforth-lazarus syndrome	Thyroid cancer	1	1	FOXE1 (3)	0.02778	1.00000	2.273e-3	3.177e-3	
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	Growth disorder	1	1	AFF4 (4)	0.02778	1.00000	2.273e-3	3.177e-3	
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Diabetic ketoacidosis	1	1	PBX1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Aarskog-scott syndrome, x-linked	Growth disorder	1	1	FGD1 (3)	0.02778	1.00000	2.273e-3	3.177e-3	
Acrocapitofemoral dysplasia	Ovarian cysts	1	1	IHH (2)	0.02778	1.00000	2.273e-3	3.177e-3	
ACTL6A-related BAFopathy	Atrial septal defect	1	1	ACTL6A (2)	0.02778	1.00000	2.273e-3	3.177e-3	
amyotrophic lateral sclerosis type 9	Ovarian cysts	1	1	ANG (2)	0.02778	1.00000	2.273e-3	3.177e-3	193
Demyelinating leukodystrophy	Primary microcephaly	1	1	LMNB1 (4)	0.02778	1.00000	2.273e-3	3.177e-3	
Atrial septal defect	Dilatation of left cardiac ventricle	1	1	ACTC1 (5)	0.02778	1.00000	2.273e-3	3.177e-3	
Atrial septal defect	dilated cardiomyopathy 1R	1	1	ACTC1 (6)	0.02778	1.00000	2.273e-3	3.177e-3	
Atrial septal defect	dilated cardiomyopathy 1Y	1	1	TPM1 (2)	0.02778	1.00000	2.273e-3	3.177e-3	
Cleft lip with or without cleft palate	Trigeminal nerve disease	1	1	CTNND1 (2)	0.08333	0.16667	2.336e-3	3.233e-3	165
primary ciliary dyskinesia	Visceral heterotaxy	1	1	DAW1 (2)	0.07692	0.25000	2.336e-3	3.233e-3	
Mitochondrial myopathy with sideroblastic anemia	Optic neuropathy	1	0	ATP6 (1)	0.07692	0.25000	2.336e-3	3.233e-3	
Hyperproinsulinemia	Myoclonic dystonia	1	1	DRD2 (2)	0.07692	0.25000	2.336e-3	3.233e-3	118
Dystonia musculorum deformans	Myoclonic dystonia	1	1	SGCE (4)	0.07692	0.25000	2.336e-3	3.233e-3	
Anti-glomerular basement membrane disease	Irritant dermatitis	1	1	HLA-DPB1 (2)	0.07692	0.25000	2.336e-3	3.233e-3	
Hyperproinsulinemia	Male pseudohypopituitarism	1	1	LHB (2)	0.07692	0.25000	2.336e-3	3.233e-3	
Congenital pain insensitivity	Corneal ulcer	1	1	NGF (2)	0.07692	0.25000	2.336e-3	3.233e-3	
Carcinoid tumor	Congenital esophageal anomaly	1	1	CDKAL1 (2)	0.07692	0.25000	2.336e-3	3.233e-3	
Carcinoid tumor	Diabetic polyneuropathy	1	0	CDKAL1 (1)	0.07692	0.25000	2.336e-3	3.233e-3	
Asperger syndrome	Salivary gland disease	1	0	NTM (1)	0.07692	0.25000	2.336e-3	3.233e-3	
Charge syndrome	complex neurodevelopmental disorder with or without congenital anomalies	1	1	RERE (2)	0.07692	0.25000	2.336e-3	3.233e-3	
Corticobasal syndrome	Frontotemporal dementia with or without amyotrophic lateral sclerosis	1	1	TBK1 (6)	0.06667	0.33333	2.336e-3	3.233e-3	
Cystic fibrosis-related diabetes	Intestinal obstruction	1	1	SLC26A9 (3)	0.06667	0.33333	2.336e-3	3.233e-3	42
Dent disease	Hypophosphatemic rickets	1	1	CLCN5 (7)	0.06667	0.33333	2.336e-3	3.233e-3	
Cholecystitis	Sitosterolemia	1	1	ABCG8 (7)	0.06667	0.33333	2.336e-3	3.233e-3	
Chromosome 22q11.2 microdeletion syndrome	Specific learning disability	1	1	MAPK1 (2)	0.06667	0.33333	2.336e-3	3.233e-3	
Bile duct cancer	Specific learning disability	1	1	MAPK1 (2)	0.06667	0.33333	2.336e-3	3.233e-3	
Bone remodeling disease	Synpolydactyly	1	1	CHST11 (2)	0.06667	0.33333	2.336e-3	3.233e-3	
Bone remodeling disease	Hennekam syndrome	1	1	CCBE1 (6)	0.06667	0.33333	2.336e-3	3.233e-3	
Thyrotoxic periodic paralysis	Urethral disease	1	0	ZFHX3 (1)	0.06667	0.33333	2.336e-3	3.233e-3	
Congenital pes cavus	Pericardium disorder	1	1	PTPRQ (2)	0.06667	0.33333	2.336e-3	3.233e-3	
Developmental coordination disorder	Hypotonia-cystinuria syndrome	1	1	CAMKMT (2)	0.06667	0.33333	2.336e-3	3.233e-3	
Hypotrichosis simplex	Perniola krajewska carnevale syndrome	1	1	LSS (3)	0.06667	0.33333	2.336e-3	3.233e-3	
Bilirubin metabolism disease	Rotor syndrome	1	1	SLCO1B1 (4)	0.06667	0.33333	2.336e-3	3.233e-3	256
Frontotemporal dementia with or without amyotrophic lateral sclerosis	Genetic neurodegenerative disease	1	0	KIF5A (1)	0.06667	0.33333	2.336e-3	3.233e-3	
Smith-magenis syndrome	Specific learning disability	1	1	IQSEC2 (2)	0.06667	0.33333	2.336e-3	3.233e-3	
Junctional epidermolysis bullosa	Sjogren-larsson syndrome	1	0	KRT14 (1)	0.05000	0.50000	2.337e-3	3.233e-3	
Birk-barel syndrome	syndromic complex neurodevelopmental disorder	1	1	TRPM3 (2)	0.05000	0.50000	2.337e-3	3.233e-3	122
Cataract-glaucoma syndrome	syndromic complex neurodevelopmental disorder	1	1	TRPM3 (3)	0.05000	0.50000	2.337e-3	3.233e-3	122
Corneal neovascularization	Thyroid hormone resistance	1	1	TRHR (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Intellectual developmental disorder dysmorphic cerebellar	Melas syndrome	1	1	CYTB (2)	0.05000	0.50000	2.337e-3	3.233e-3	
Intellectual developmental disorder dysmorphic ptosis	syndromic complex neurodevelopmental disorder	1	1	BRPF1 (6)	0.05000	0.50000	2.337e-3	3.233e-3	122
Seckel syndrome	Urethral syndrome	1	1	CDK5RAP2 (2)	0.05000	0.50000	2.337e-3	3.233e-3	
syndromic complex neurodevelopmental disorder	Ververi-brady syndrome	1	1	QRICH1 (5)	0.05000	0.50000	2.337e-3	3.233e-3	122
Clinodactyly	Wilson-turner syndrome	1	1	HDAC8 (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Fetal erythroblastosis	Giant cell arteritis	1	0	FCGR2A (1)	0.05000	0.50000	2.337e-3	3.233e-3	
Corneal neovascularization	Intestinal polyposis	1	1	STK11 (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Lipodystrophy	non-severe combined immunodeficiency due to polymerase delta deficiency	1	1	POLD1 (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Corneal neovascularization	Ovarian hyperstimulation syndrome	1	0	SERPINF1 (1)	0.05000	0.50000	2.337e-3	3.233e-3	
Perisylvian polymicrogyria	Seckel syndrome	1	1	CPAP (6)	0.05000	0.50000	2.337e-3	3.233e-3	
Gm1 gangliosidosis	Spondyloepiphyseal dysplasia	1	1	GLB1 (6)	0.05000	0.50000	2.337e-3	3.233e-3	
Gross motor development delay	Hemorrhagic stroke	1	1	PDGFA (2)	0.05000	0.50000	2.337e-3	3.233e-3	
Carcinogenesis	Primary adrenal insufficiency	1	1	CUX1 (2)	0.05000	0.50000	2.337e-3	3.233e-3	
Bifid uvula	Clinodactyly	1	0	ARF3 (1)	0.05000	0.50000	2.337e-3	3.233e-3	
Congenital cataract facial dysmorphism neuropathy syndrome	Nuclear cataract	1	1	GJA3 (3)	0.05000	0.50000	2.337e-3	3.233e-3	51
Congenital nervous system disorder	Developmental regression	1	1	UNC13A (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Congenital radioulnar synostosis	Thoracic aortic aneurysm	1	1	SMAD6 (2)	0.05000	0.50000	2.337e-3	3.233e-3	
Chorea	Continuous spike and wave during slow wave sleep syndrome	1	0	FRRS1L (1)	0.05000	0.50000	2.337e-3	3.233e-3	
Corpus callosum agenesis	Seckel syndrome	1	1	CDK5RAP2 (2)	0.05000	0.50000	2.337e-3	3.233e-3	
Clinodactyly	Corpus callosum agenesis neuronopathy syndrome	1	1	SLC12A6 (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Cardiac, facial, and digital anomalies with developmental delay	syndromic complex neurodevelopmental disorder	1	1	TRAF7 (5)	0.05000	0.50000	2.337e-3	3.233e-3	
Central nervous system malformation	Lipodystrophy	1	1	LMNB2 (4)	0.05000	0.50000	2.337e-3	3.233e-3	79
Chromosome 2q32-q33 deletion syndrome	Clinodactyly	1	1	SATB2 (3)	0.05000	0.50000	2.337e-3	3.233e-3	197
17p13.3 microduplication syndrome	Carcinogenesis	1	1	PAFAH1B1 (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Acral peeling skin syndrome	Junctional epidermolysis bullosa	1	1	CSTA (3)	0.05000	0.50000	2.337e-3	3.233e-3	
Agenesis of corpus callosum	Clinodactyly	1	1	SLC12A6 (2)	0.05000	0.50000	2.337e-3	3.233e-3	
Aortic atherosclerosis	Diabetic nephropathy type 2	1	0	NYAP2 (1)	0.05000	0.50000	2.337e-3	3.233e-3	
8q24.3 microdeletion syndrome	syndromic intellectual disability	1	1	PUF60 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Acid sphingomyelinase deficiency	Smooth surface dental caries	1	1	SMPD1 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
ACTN2-related cardiac and skeletal myopathy	Ventricular fibrillation	1	1	ACTN2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
acute myeloid leukemia	Emphysema	1	1	CEBPA (2)	0.02703	1.00000	2.338e-3	3.233e-3	
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	1	1	AHDC1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Antecubital pterygium syndrome	Smooth surface dental caries	1	1	PSD3 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Anterior maxillary protrusion-strabismus-intellectual disability syndrome	syndromic intellectual disability	1	1	SOBP (3)	0.02703	1.00000	2.338e-3	3.233e-3	
ciliary dyskinesia, primary, 47, and lissencephaly	T-cell leukemia-lymphoma	1	1	TP73 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cleft lip/palate-ectodermal dysplasia syndrome	Complete unilateral cleft lip	1	1	NECTIN1 (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Cleft palate cardiac defects impaired intellectual development	Learning disorders	1	1	MEIS2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion	Learning disorders	1	1	MEIS2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Complex partial epilepsy	genetic developmental and epileptic encephalopathy	1	1	SCN3A (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Congenital brain dysgenesis due to glutamine synthetase deficiency	genetic developmental and epileptic encephalopathy	1	1	GLUL (5)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Congenital cerebellar hypoplasia	1	1	OXR1 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Congenital cerebral hernia	Emphysema	1	1	PIBF1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Developmental delay with or without epilepsy	1	1	SPTAN1 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Diabetic macular edema	Ocular hypotension	1	0	MRPL19 (1)	0.02703	1.00000	2.338e-3	3.233e-3	38
Diets-jongmans syndrome	syndromic intellectual disability	1	1	KDM3B (5)	0.02703	1.00000	2.338e-3	3.233e-3	286
dilated cardiomyopathy 1BB	Ventricular fibrillation	1	1	DSG2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	3
dilated cardiomyopathy 1HH	Distal hereditary motor neuropathy	1	1	BAG3 (4)	0.02703	1.00000	2.338e-3	3.233e-3	
dilated cardiomyopathy 1W	Ventricular fibrillation	1	1	VCL (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Distal axonal motor neuropathy-myofibrillar myopathy syndrome	Distal hereditary motor neuropathy	1	1	HSPB8 (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Bosley-salih-alorainy syndrome	syndromic intellectual disability	1	1	HOXA1 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome	syndromic intellectual disability	1	1	BPTF (2)	0.02703	1.00000	2.338e-3	3.233e-3	
C syndrome	Proliferative diabetic retinopathy	1	1	CD96 (7)	0.02703	1.00000	2.338e-3	3.233e-3	
Cardiac and skeletal myopathy	Ventricular fibrillation	1	1	ACTN2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
cardiomyopathy, dilated, 2e	Ventricular fibrillation	1	1	JPH2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	3
Brain infarction	Cerebral arterial disease	1	0	ADGRE3 (1)	0.02703	1.00000	2.338e-3	3.233e-3	
Charcot-Marie-Tooth disease axonal type 2F	Distal hereditary motor neuropathy	1	1	HSPB1 (7)	0.02703	1.00000	2.338e-3	3.233e-3	
Charcot-Marie-Tooth disease axonal type 2Z	Distal hereditary motor neuropathy	1	1	MORC2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Charcot-Marie-Tooth disease type 2D	Distal hereditary motor neuropathy	1	1	GARS1 (7)	0.02703	1.00000	2.338e-3	3.233e-3	13
Chopra-amiel-gordon syndrome	Smooth surface dental caries	1	1	ANKRD17 (5)	0.02703	1.00000	2.338e-3	3.233e-3	
Congenital heart defect, intellectual disability, facial dysmorphism syndrome	syndromic intellectual disability	1	1	CDK13 (2)	0.02703	1.00000	2.338e-3	3.233e-3	286
Congenital right-sided heart lesions	Ventricular fibrillation	1	0	SLC27A6 (1)	0.02703	1.00000	2.338e-3	3.233e-3	3
Coq7-related distal hereditary motor neuropathy	Distal hereditary motor neuropathy	1	1	COQ7 (5)	0.02703	1.00000	2.338e-3	3.233e-3	
Coronary vessel anomalies	Microphthalmos	1	1	GCLC (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Corpus callosum agenesis with facial anomalies and robin sequence	1	0	DDX3X (1)	0.02703	1.00000	2.338e-3	3.233e-3	
craniosynostosis 4	Ocular hypotension	1	1	ERF (2)	0.02703	1.00000	2.338e-3	3.233e-3	38
Aplasia of lacrimal and salivary glands	Complete unilateral cleft lip	1	1	FGF10 (5)	0.02703	1.00000	2.338e-3	3.233e-3	
Arboleda-tham syndrome	syndromic intellectual disability	1	1	KAT6A (3)	0.02703	1.00000	2.338e-3	3.233e-3	286
arterial tortuosity-bone fragility syndrome	Distal hereditary motor neuropathy	1	1	EMILIN1 (4)	0.02703	1.00000	2.338e-3	3.233e-3	
Athabaskan brainstem dysgenesis	syndromic intellectual disability	1	1	HOXA1 (5)	0.02703	1.00000	2.338e-3	3.233e-3	
BBS9-related ciliopathy	Smooth surface dental caries	1	1	BBS9 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	PMM2-congenital disorder of glycosylation	1	1	PMM2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
poirier-bienvenu neurodevelopmental syndrome	T-cell leukemia-lymphoma	1	1	CSNK2B (2)	0.02703	1.00000	2.338e-3	3.233e-3	
PRKAG2-related cardiomyopathy	Proliferative diabetic retinopathy	1	1	PRKAG2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Progressive myoclonic epilepsy with renal failure	1	1	SEMA6B (4)	0.02703	1.00000	2.338e-3	3.233e-3	
PROM1-related dominant retinopathy	Smooth surface dental caries	1	1	PROM1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
PROM1-related recessive retinopathy	Smooth surface dental caries	1	1	PROM1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Complete unilateral cleft lip	Proximal symphalangism	1	1	NOG (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Distal hereditary motor neuropathy	pyridoxal phosphate-responsive seizures	1	1	PNPO (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Distal hereditary motor neuropathy	Pyridoxamine 5'-phosphate oxidase deficiency	1	1	PNPO (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Brain infarction	recombinase activating gene 1 deficiency	1	1	RAG1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Complete unilateral cleft lip	Salivary gland agenesis	1	1	FGF10 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Intellectual disability with craniofacial dysmorphism and macrocephaly	syndromic intellectual disability	1	1	H1-4 (2)	0.02703	1.00000	2.338e-3	3.233e-3	286
Intellectual disability, anterior maxillary protrusion, and strabismus	syndromic intellectual disability	1	1	SOBP (3)	0.02703	1.00000	2.338e-3	3.233e-3	
iron overload, susceptibility to	T-cell leukemia-lymphoma	1	1	BMP6 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Isolated anhidrosis	Smooth surface dental caries	1	1	ITPR2 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
isolated microphthalmia 6	Microphthalmos	1	1	PRSS56 (3)	0.02703	1.00000	2.338e-3	3.233e-3	52
KCNH1 associated disorder	Smooth surface dental caries	1	1	KCNH1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Brain infarction	leukoencephalopathy with vanishing white matter 3	1	1	EIF2B3 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	lissencephaly spectrum disorder with complex brainstem malformation	1	1	MACF1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Brain infarction	Trichomegaly	1	1	FGF5 (5)	0.02703	1.00000	2.338e-3	3.233e-3	
syndromic intellectual disability	Verheij syndrome	1	1	PUF60 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	X-linked intellectual disability-cerebellar hypoplasia syndrome	1	1	OPHN1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Xia-gibbs syndrome	1	1	AHDC1 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
syndromic intellectual disability	Zunich neuroectodermal syndrome	1	1	PIGL (3)	0.02703	1.00000	2.338e-3	3.233e-3	
genetic developmental and epileptic encephalopathy	self-limited familial neonatal epilepsy	1	0	KCNQ3 (1)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	1	1	SETD2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	1	1	SETD2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Smooth surface dental caries	Visceral acid sphingomyelinase deficiency	1	1	SMPD1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Smooth surface dental caries	Temple-baraitser syndrome	1	1	KCNH1 (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Moyamoya angiopathy	Tetany	1	1	CNNM2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Learning disorders	Thauvin-robinet-faivre syndrome	1	1	FIBP (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Microphthalmos	Trichiasis	1	0	MCM7 (1)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	hyperinsulinemic hypoglycemia with polycystic kidney disease	1	1	PMM2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
hypomagnesemia, seizures, and intellectual disability 1	Moyamoya angiopathy	1	1	CNNM2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Ichthyosis vulgaris	1	1	FLG (2)	0.02703	1.00000	2.338e-3	3.233e-3	
immune dysregulation, autoimmunity, and autoinflammation	T-cell leukemia-lymphoma	1	1	PLCG1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Brain infarction	immunodeficiency 122	1	1	POLD3 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
immunodeficiency 123 with hpv-related verrucosis	T-cell leukemia-lymphoma	1	1	CD28 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	T-cell leukemia-lymphoma	1	1	HNRNPA2B1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Intellectual developmental disorder dysmorphic cardiac short stature	syndromic intellectual disability	1	1	PUF60 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Intellectual developmental disorder dysmorphic seizures	syndromic intellectual disability	1	1	OTUD6B (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Intellectual developmental disorder growth microcephaly	syndromic intellectual disability	1	1	CTCF (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Intellectual developmental disorder growth other organ	syndromic intellectual disability	1	1	PPM1D (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	syndromic intellectual disability	1	1	OTUD6B (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency	Emphysema	1	1	AP3D1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Focal dermal hypoplasia	Microphthalmos	1	1	PORCN (7)	0.02703	1.00000	2.338e-3	3.233e-3	52
HELIOS deficiency	T-cell leukemia-lymphoma	1	1	IKZF2 (2)	0.02703	1.00000	2.338e-3	3.233e-3	153
Distal hereditary motor neuropathy	Hereditary axonal motor and sensory neuropathy	1	0	BICD2 (1)	0.02703	1.00000	2.338e-3	3.233e-3	
Distal hereditary motor neuropathy	hereditary peripheral neuropathy	1	1	IGHMBP2 (3)	0.02703	1.00000	2.338e-3	3.233e-3	
Emphysema	hermansky-pudlak syndrome 10	1	1	AP3D1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Complete unilateral cleft lip	Merkel cell carcinoma	1	1	MYC (2)	0.02703	1.00000	2.338e-3	3.233e-3	
microphthalmia, syndromic 12	Microphthalmos	1	1	RARB (2)	0.02703	1.00000	2.338e-3	3.233e-3	
17q11.2 microduplication syndrome	Moyamoya angiopathy	1	1	NF1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	71
Cervical lymphadenopathy	Moyamoya angiopathy	1	0	NF1 (1)	0.02703	1.00000	2.338e-3	3.233e-3	71
Moyamoya angiopathy	Watson syndrome	1	1	NF1 (3)	0.02703	1.00000	2.338e-3	3.233e-3	71
Naxos disease	Ventricular fibrillation	1	1	JUP (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Brain infarction	neuroblastoma, susceptibility to, 3	1	1	ALK (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Moyamoya angiopathy	neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	1	1	CAPRIN1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Moyamoya angiopathy	neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	1	1	CAPRIN1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Distal hereditary motor neuropathy	neuronopathy, distal hereditary motor, autosomal dominant	1	1	HSPB8 (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Distal hereditary motor neuropathy	neuronopathy, distal hereditary motor, autosomal recessive 5	1	1	DNAJB2 (7)	0.02703	1.00000	2.338e-3	3.233e-3	13
Distal hereditary motor neuropathy	neuronopathy, distal hereditary motor, type 7A	1	1	SLC5A7 (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Neurooculocardio-genitourinary syndrome	1	1	WDR37 (6)	0.02703	1.00000	2.338e-3	3.233e-3	
Complete unilateral cleft lip	NOG-related symphalangism spectrum disorder	1	1	NOG (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Emphysema	Ocular albinism with sensorineural deafness	1	1	AP3D1 (2)	0.02703	1.00000	2.338e-3	3.233e-3	
mirror movements 1 and/or agenesis of the corpus callosum	Ocular hypotension	1	1	DCC (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Choroidal neovascularization	Ocular hypotension	1	1	VEGFA (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Ocular hypotension	Tongue disorder	1	0	ESRRG (1)	0.02703	1.00000	2.338e-3	3.233e-3	
Ocular hypotension	Usher syndrome type 2D	1	1	WHRN (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Microphthalmos	Orbital disease	1	1	RARB (2)	0.02703	1.00000	2.338e-3	3.233e-3	
Complete unilateral cleft lip	Osteolysis, hereditary, of carpal bones with or without nephropathy	1	0	MAFB (1)	0.02703	1.00000	2.338e-3	3.233e-3	
Esophageal adenocarcinoma	Gastrointestinal disease	2	0	CRTC1 (1), FOXP1 (1)	0.03030	0.06250	2.385e-3	3.298e-3	
Bronchitis	Schizoaffective disorder	2	1	CSMD1 (1), NPY (2)	0.03030	0.06061	2.394e-3	3.301e-3	
sick sinus syndrome 2, autosomal dominant	Toxic epidermal necrolysis	1	1	HCN4 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Atypical femoral fracture	SMAD6-related disease	1	1	SMAD6 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	Glycogen storage disease	1	1	AFG3L2 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	familial hemophagocytic lymphohistiocytosis 2	1	1	PRF1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	96
Autoinflammatory syndrome	familial hemophagocytic lymphohistiocytosis 3	1	1	UNC13D (2)	0.02632	1.00000	2.403e-3	3.301e-3	96
Autoinflammatory syndrome	familial hemophagocytic lymphohistiocytosis 4	1	1	STX11 (2)	0.02632	1.00000	2.403e-3	3.301e-3	96
Farber disease	Spinal muscular atrophy	1	1	ASAH1 (5)	0.02632	1.00000	2.403e-3	3.301e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Spinal muscular atrophy	1	1	CHCHD10 (4)	0.02632	1.00000	2.403e-3	3.301e-3	
Duodenal ulcer	tubulointerstitial kidney disease, autosomal dominant, 2	1	1	MUC1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Seborrheic dermatitis	Tyrosine kinase 2 deficiency	1	1	TYK2 (3)	0.02632	1.00000	2.403e-3	3.301e-3	
Retinal degeneration	Uridine-cytidineuria	1	1	SLC28A1 (3)	0.02632	1.00000	2.403e-3	3.301e-3	7
Spinal muscular atrophy	Vexas syndrome	1	1	UBA1 (4)	0.02632	1.00000	2.403e-3	3.301e-3	13
Autoinflammatory syndrome	Von zumbuzschs disease	1	0	IL36RN (1)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	X-linked lymphoproliferative disease due to SH2D1A deficiency	1	1	SH2D1A (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	X-linked lymphoproliferative disease due to XIAP deficiency	1	1	XIAP (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	PGM1-congenital disorder of glycosylation	1	1	PGM1 (3)	0.02632	1.00000	2.403e-3	3.301e-3	154
Duodenal ulcer	PLD1-related congenital heart disease	1	1	PLD1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	polyglucosan body myopathy 1 with or without immunodeficiency	1	1	RBCK1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	polyglucosan body myopathy type 2	1	1	GYG1 (7)	0.02632	1.00000	2.403e-3	3.301e-3	154
Glycogen storage disease	primary ciliary dyskinesia 15	1	1	CCDC40 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
primrose syndrome	Toxic epidermal necrolysis	1	1	ZBTB20 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	pseudohypoaldosteronism, type IB1, autosomal recessive	1	1	SCNN1A (2)	0.02632	1.00000	2.403e-3	3.301e-3	
RDH12-related dominant retinopathy	Retinal degeneration	1	1	RDH12 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
RDH12-related recessive retinopathy	Retinal degeneration	1	1	RDH12 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Retinal degeneration	retinitis pigmentosa 27	1	1	NRL (3)	0.02632	1.00000	2.403e-3	3.301e-3	7
Cleft lip	Salivary gland agenesis	1	1	FGF10 (3)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	SAMD9L-related spectrum and myeloid neoplasm risk	1	1	SAMD9L (3)	0.02632	1.00000	2.403e-3	3.301e-3	
joubert syndrome 3	Retinal degeneration	1	1	AHI1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
LAMA2-related muscular dystrophy	Toxic epidermal necrolysis	1	1	LAMA2 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Duodenal ulcer	leukemia, acute myeloid, susceptibility to	1	1	FLT3 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	lymphoproliferative syndrome 1	1	1	ITK (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	lymphoproliferative syndrome 2	1	1	CD27 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	lysinuric protein intolerance	1	1	SLC7A7 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	Majeed syndrome	1	1	LPIN2 (6)	0.02632	1.00000	2.403e-3	3.301e-3	
Intellectual developmental disorder cataracts myopathy	Toxic epidermal necrolysis	1	1	ZBTB20 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Intellectual developmental disorder dysmorphic macrocephaly	Seborrheic dermatitis	1	1	ZBTB7A (2)	0.02632	1.00000	2.403e-3	3.301e-3	
neuronopathy, distal hereditary motor, autosomal recessive 5	Spinal muscular atrophy	1	1	DNAJB2 (2)	0.02632	1.00000	2.403e-3	3.301e-3	13
NMNAT1-related retinopathy	Retinal degeneration	1	1	NMNAT1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Diamond-blackfan anemia	obsolete deficiency of adenosine deaminase 2	1	1	ADA2 (4)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	obsolete deficiency of adenosine deaminase 2	1	1	ADA2 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	Papa syndrome	1	1	PSTPIP1 (3)	0.02632	1.00000	2.403e-3	3.301e-3	
Duodenal ulcer	MECOM-associated syndrome	1	1	MECOM (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	methylmalonic aciduria, cblb type	1	1	MMAB (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	mucopolysaccharidosis type 3A	1	1	SGSH (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Atypical femoral fracture	mucopolysaccharidosis type 4A	1	1	GALNS (2)	0.02632	1.00000	2.403e-3	3.301e-3	
nephrotic syndrome 14	Seborrheic dermatitis	1	1	SGPL1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	263
nephrotic syndrome, type 3	Retinal degeneration	1	1	PLCE1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
netherton syndrome	Seborrheic dermatitis	1	1	SPINK5 (2)	0.02632	1.00000	2.403e-3	3.301e-3	263
Gestational trophoblastic disease	Toxic epidermal necrolysis	1	1	POU5F1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	glycogen storage disease due to glycogen branching enzyme deficiency	1	1	GBE1 (7)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	glycogen storage disease due to muscle and heart glycogen synthase deficiency	1	1	GYS1 (7)	0.02632	1.00000	2.403e-3	3.301e-3	154
Glycogen storage disease	glycogen storage disease I	1	1	G6PC1 (8)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	glycogen storage disease II	1	1	GAA (7)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	glycogen storage disease III	1	1	AGL (7)	0.02632	1.00000	2.403e-3	3.301e-3	154
Glycogen storage disease	glycogen storage disease IXb	1	1	PHKB (7)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	glycogen storage disease IXc	1	1	PHKG2 (8)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	glycogen storage disease IXd	1	1	PHKA1 (6)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	glycogen storage disease V	1	1	PYGM (7)	0.02632	1.00000	2.403e-3	3.301e-3	154
Glycogen storage disease	glycogen storage disease VI	1	1	PYGL (7)	0.02632	1.00000	2.403e-3	3.301e-3	154
Glycogen storage disease	glycogen storage disorder due to hepatic glycogen synthase deficiency	1	1	GYS2 (6)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	Glycoprotein storage disease	1	1	GAA (7)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	Griscelli syndrome type 2	1	1	RAB27A (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Glycogen storage disease	Hepatic glycogen synthase deficiency	1	1	GYS2 (6)	0.02632	1.00000	2.403e-3	3.301e-3	
Hereditary axonal motor and sensory neuropathy	Spinal muscular atrophy	1	1	BICD2 (4)	0.02632	1.00000	2.403e-3	3.301e-3	
hereditary peripheral neuropathy	Spinal muscular atrophy	1	1	IGHMBP2 (4)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	hermansky-pudlak syndrome 2	1	1	AP3B1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	hermansky-pudlak syndrome 9	1	1	BLOC1S6 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Aplasia of lacrimal and salivary glands	Cleft lip	1	1	FGF10 (5)	0.02632	1.00000	2.403e-3	3.301e-3	
ASAH1-related sphingolipidosis	Spinal muscular atrophy	1	1	ASAH1 (6)	0.02632	1.00000	2.403e-3	3.301e-3	
Ataxia-pancytopenia syndrome	Autoinflammatory syndrome	1	1	SAMD9L (5)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia	1	1	PSTPIP1 (3)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	Autoinflammatory syndrome, familial, behcet-like	1	1	TNFAIP3 (5)	0.02632	1.00000	2.403e-3	3.301e-3	
autosomal dominant slowed nerve conduction velocity	Spinal muscular atrophy	1	1	ARHGEF10 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Autoinflammatory syndrome	Cyclic hematopoiesis	1	1	ELANE (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	Duodenal ulcer	1	1	PLA2G4A (5)	0.02632	1.00000	2.403e-3	3.301e-3	
Danon disease	Glycogen storage disease	1	1	LAMP2 (6)	0.02632	1.00000	2.403e-3	3.301e-3	154
Degcags syndrome	Diamond-blackfan anemia	1	1	ZNF699 (3)	0.02632	1.00000	2.403e-3	3.301e-3	240
Dicarboxylic aminoaciduria	Retinal degeneration	1	1	SLC1A1 (6)	0.02632	1.00000	2.403e-3	3.301e-3	
Dicarboxylicaminoaciduria	Retinal degeneration	1	1	SLC1A1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
dilated cardiomyopathy 1D	Glycogen storage disease	1	1	TNNT2 (3)	0.02632	1.00000	2.403e-3	3.301e-3	
Dimauro disease	Glycogen storage disease	1	1	PGAM2 (6)	0.02632	1.00000	2.403e-3	3.301e-3	154
Autoinflammatory syndrome	Ditra syndrome	1	1	IL36RN (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Adenosine deaminase 2 deficiency	Diamond-blackfan anemia	1	1	ADA2 (4)	0.02632	1.00000	2.403e-3	3.301e-3	
Adenosine deaminase 2 deficiency	Autoinflammatory syndrome	1	1	ADA2 (4)	0.02632	1.00000	2.403e-3	3.301e-3	
Adult polyglucosan body disease	Glycogen storage disease	1	1	GBE1 (7)	0.02632	1.00000	2.403e-3	3.301e-3	
Adult-onset proximal spinal muscular atrophy	Spinal muscular atrophy	1	1	VAPB (4)	0.02632	1.00000	2.403e-3	3.301e-3	
AFG3L2-related optic atrophy and/or spastic ataxia spectrum	Glycogen storage disease	1	1	AFG3L2 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Albinism	Duodenal ulcer	1	1	TPCN2 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
amyotrophic lateral sclerosis type 8	Spinal muscular atrophy	1	1	VAPB (4)	0.02632	1.00000	2.403e-3	3.301e-3	
citrullinemia type I	Glycogen storage disease	1	1	ASS1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Cleft lip	Cleft lip/palate-ectodermal dysplasia syndrome	1	1	NECTIN1 (6)	0.02632	1.00000	2.403e-3	3.301e-3	
cone-rod dystrophy 2	Retinal degeneration	1	1	CRX (2)	0.02632	1.00000	2.403e-3	3.301e-3	7
Congenital merosin-deficient muscular dystrophy	Toxic epidermal necrolysis	1	1	LAMA2 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Congenital-onset steinert myotonic dystrophy	Noonan syndrome	1	1	DMPK (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Cryptogenic multifocal ulcerous stenosing enteritis	Duodenal ulcer	1	1	PLA2G4A (3)	0.02632	1.00000	2.403e-3	3.301e-3	
Boudin-mortier syndrome	Retinal degeneration	1	1	NPR3 (4)	0.02632	1.00000	2.403e-3	3.301e-3	
Cernunnos-XLF deficiency	Duodenal ulcer	1	1	NHEJ1 (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Charcot-Marie-Tooth disease type 2A1	Spinal muscular atrophy	1	1	KIF1B (2)	0.02632	1.00000	2.403e-3	3.301e-3	
Charcot-Marie-Tooth disease type 2D	Spinal muscular atrophy	1	1	GARS1 (5)	0.02632	1.00000	2.403e-3	3.301e-3	13
Alpha-1 antichymotrypsin deficiency	Lipidoses	1	1	SERPINA3 (2)	0.04762	0.50000	2.466e-3	3.358e-3	
Alpha-1 antichymotrypsin deficiency	Lipoidosis	1	0	SERPINA3 (1)	0.04762	0.50000	2.466e-3	3.358e-3	
Blepharoptosis	Developmental delay with variable intellectual disability	1	1	TCF20 (5)	0.04762	0.50000	2.466e-3	3.358e-3	
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Pericarditis	1	1	PRG4 (6)	0.04762	0.50000	2.466e-3	3.358e-3	
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Secondary malignant neoplasm	1	1	PRG4 (6)	0.04762	0.50000	2.466e-3	3.358e-3	
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Down syndrome	1	1	MTHFD1 (5)	0.04762	0.50000	2.466e-3	3.358e-3	
Hyperparathyroidism	Intestinal hypomagnesemia	1	1	TRPV6 (4)	0.04762	0.50000	2.466e-3	3.358e-3	
Iron-refractory iron deficiency anemia	Polycythemia	1	1	TMPRSS6 (5)	0.04762	0.50000	2.466e-3	3.358e-3	
Male infertility acephalic spermatozoa	Specific language disorder	1	1	PMFBP1 (2)	0.04762	0.50000	2.466e-3	3.358e-3	272
Diffuse mesangial sclerosis	Specific language disorder	1	0	COL4A4 (1)	0.04762	0.50000	2.466e-3	3.358e-3	
Specific language disorder	Temple syndrome	1	1	RTL1 (3)	0.04762	0.50000	2.466e-3	3.358e-3	
B-lymphoblastic leukemia/lymphoma	Duplication 15q11-q13 syndrome	1	1	AUTS2 (2)	0.04762	0.50000	2.466e-3	3.358e-3	
Dysautonomia	Hereditary sensory and autonomic neuropathy	1	1	ELP1 (4)	0.04762	0.50000	2.466e-3	3.358e-3	
Hereditary sensory and autonomic neuropathy	Peho syndrome	1	1	KIF1A (6)	0.04762	0.50000	2.466e-3	3.358e-3	173
Limb girdle muscular dystrophy	neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan	1	1	DAG1 (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Developmental delay	Neurooculocardio-genitourinary syndrome	1	1	WDR37 (6)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	NMNAT1-related retinopathy	1	1	NMNAT1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	occult macular dystrophy	1	1	RP1L1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Microphthalmia	Orbital disease	1	1	RARB (7)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	PDE6C-related retinopathy	1	1	PDE6C (8)	0.02564	1.00000	2.468e-3	3.358e-3	
Limb girdle muscular dystrophy	Sarcotubular myopathy	1	1	TRIM32 (6)	0.02564	1.00000	2.468e-3	3.358e-3	
Left ventricular noncompaction cardiomyopathy	Sensorineural deafness with dilated cardiomyopathy	1	1	EYA4 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cholangiocarcinoma	Serrated polyposis	1	1	RNF43 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cholangiocarcinoma	sessile serrated polyposis cancer syndrome	1	1	RNF43 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Dermatitis	severe combined immunodeficiency due to IKK2 deficiency	1	1	IKBKB (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Left ventricular noncompaction cardiomyopathy	sick sinus syndrome 2, autosomal dominant	1	1	HCN4 (2)	0.02564	1.00000	2.468e-3	3.358e-3	3
skeletal dysplasia, mild, with joint laxity and advanced bone age	Vesicoureteral reflux	1	1	CSGALNACT1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	SRD5A3-congenital disorder of glycosylation	1	1	SRD5A3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Dermatitis	surfactant metabolism dysfunction, pulmonary, 5	1	1	CSF2RB (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Dermatitis	Systemic primary carnitine deficiency	1	1	SLC22A5 (4)	0.02564	1.00000	2.468e-3	3.358e-3	
Limb girdle muscular dystrophy	TOR1AIP1-related multisystem disorder	1	1	TOR1AIP1 (5)	0.02564	1.00000	2.468e-3	3.358e-3	
Limb girdle muscular dystrophy	TOR1AIP1-related myopathy	1	1	TOR1AIP1 (5)	0.02564	1.00000	2.468e-3	3.358e-3	
Developmental delay	intellectual developmental disorder with autistic features and language delay, with or without seizures	1	1	TANC2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Dermatitis	Interstitial systitis	1	0	ADRB2 (1)	0.02564	1.00000	2.468e-3	3.358e-3	
Interstitial systitis	Myasthenia gravis	1	0	ADRB2 (1)	0.02564	1.00000	2.468e-3	3.358e-3	
isolated microphthalmia 6	Microphthalmia	1	1	PRSS56 (4)	0.02564	1.00000	2.468e-3	3.358e-3	52
Cholangiocarcinoma	KCND2-related neurodevelopmental disorder with or without seizures	1	1	KCND2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Kidney atrophy	Microphthalmia	1	0	C12orf57 (1)	0.02564	1.00000	2.468e-3	3.358e-3	
Kidney atrophy	Vesicoureteral reflux	1	0	C12orf57 (1)	0.02564	1.00000	2.468e-3	3.358e-3	
LAMA2-related muscular dystrophy	Limb girdle muscular dystrophy	1	1	LAMA2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Laryngeal hypoplasia	Vesicoureteral reflux	1	1	FOXP4 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Myasthenia gravis	TRPM1-related retinopathy	1	1	TRPM1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	Ulnar-fibular ray defect and brachydactyly	1	0	RP1L1 (1)	0.02564	1.00000	2.468e-3	3.358e-3	
Microphthalmia	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	1	1	HMGB3 (5)	0.02564	1.00000	2.468e-3	3.358e-3	52
Developmental delay	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	1	1	USP9X (3)	0.02564	1.00000	2.468e-3	3.358e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Uterine neoplasms	1	1	CYLD (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	GNAT2-related retinopathy	1	1	GNAT2 (4)	0.02564	1.00000	2.468e-3	3.358e-3	
Heart defect, tongue hamartoma and polysyndactyly	Vesicoureteral reflux	1	1	WDPCP (5)	0.02564	1.00000	2.468e-3	3.358e-3	
Cholangiocarcinoma	hepatic veno-occlusive disease-immunodeficiency syndrome	1	1	SP110 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Autoimmune hepatitis	hereditary fructose intolerance	1	1	ALDOB (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	PHARC syndrome	1	1	ABHD12 (2)	0.02564	1.00000	2.468e-3	3.358e-3	7
PROM1-related dominant retinopathy	Uterine neoplasms	1	1	PROM1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
PROM1-related recessive retinopathy	Uterine neoplasms	1	1	PROM1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	RAB28-related retinopathy	1	1	RAB28 (2)	0.02564	1.00000	2.468e-3	3.358e-3	7
Dermatitis	renal hypomagnesemia 4	1	1	EGF (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	retinitis pigmentosa 47	1	1	SAG (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	retinitis pigmentosa 65	1	1	CDHR1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	7
Cholangiocarcinoma	Endometrioid carcinoma	1	0	MSLN (1)	0.02564	1.00000	2.468e-3	3.358e-3	
Familial cylindromatosis	Uterine neoplasms	1	1	CYLD (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Dermatitis	familial meningioma	1	1	SMARCE1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Developmental delay	floating-harbor syndrome	1	1	SRCAP (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Focal dermal hypoplasia	Microphthalmia	1	1	PORCN (8)	0.02564	1.00000	2.468e-3	3.358e-3	52
Dermatitis	Focal palmoplantar keratoderma with joint keratoses	1	1	DSG1 (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Cutaneous squamous cell carcinoma	histidinemia	1	1	HAL (2)	0.02564	1.00000	2.468e-3	3.358e-3	16
Hypo-akinesia disorder of prenatal onset	Myasthenia gravis	1	1	CHRNG (4)	0.02564	1.00000	2.468e-3	3.358e-3	
hypogonadotropic hypogonadism 4 with or without anosmia	Kallmann syndrome	1	1	PROK2 (5)	0.02564	1.00000	2.468e-3	3.358e-3	58
hypotonia, ataxia, and delayed development syndrome	Vesicoureteral reflux	1	1	EBF3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Dermatitis	Ichthyosis vulgaris	1	1	FLG (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Dermatitis	immunodeficiency 15a	1	1	IKBKB (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cutaneous squamous cell carcinoma	immunodeficiency 60	1	1	BACH2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
immunodeficiency 63 with lymphoproliferation and autoimmunity	Myasthenia gravis	1	1	IL2RB (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Dejerine-sottas disease	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	1	1	VCP (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Hypertrophic neuropathy	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	1	1	VCP (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Intellectual developmental disorder movement cerebellar	Limb girdle muscular dystrophy	1	1	TRAPPC11 (6)	0.02564	1.00000	2.468e-3	3.358e-3	
Developmental delay	Intellectual developmental disorder seizures language	1	1	SETD1B (3)	0.02564	1.00000	2.468e-3	3.358e-3	26
Brain neoplasms	melanoma, cutaneous malignant, susceptibility to, 3	1	1	CDK4 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Microphthalmia	microphthalmia, syndromic 12	1	1	RARB (7)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	MKKS-related ciliopathy	1	1	MKKS (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Multiple familial trichoepithelioma	Uterine neoplasms	1	1	CYLD (5)	0.02564	1.00000	2.468e-3	3.358e-3	
Limb girdle muscular dystrophy	Multisystem disorder	1	1	TOR1AIP1 (5)	0.02564	1.00000	2.468e-3	3.358e-3	
Limb girdle muscular dystrophy	myopathy caused by variation in FKTN	1	1	FKTN (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Limb girdle muscular dystrophy	myopathy caused by variation in POMT2	1	1	POMT2 (4)	0.02564	1.00000	2.468e-3	3.358e-3	
Left ventricular noncompaction cardiomyopathy	MYPN-related myopathy	1	1	MYPN (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Microphthalmia	NAA10-related syndrome	1	1	NAA10 (7)	0.02564	1.00000	2.468e-3	3.358e-3	
Brain neoplasms	neuroblastoma, susceptibility to, 3	1	1	ALK (2)	0.02564	1.00000	2.468e-3	3.358e-3	
CNGA3-related retinopathy	Cone dystrophy	1	1	CNGA3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
CNGB3-related retinopathy	Cone dystrophy	1	1	CNGB3 (4)	0.02564	1.00000	2.468e-3	3.358e-3	
colobomatous microphthalmia-rhizomelic dysplasia syndrome	Microphthalmia	1	1	MAB21L2 (4)	0.02564	1.00000	2.468e-3	3.358e-3	52
combined immunodeficiency due to LRBA deficiency	Microphthalmia	1	1	LRBA (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Complex partial epilepsy	Developmental delay	1	1	SCN3A (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cone dystrophy	cone dystrophy 3	1	1	GUCA1A (7)	0.02564	1.00000	2.468e-3	3.358e-3	
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige	Dermatitis	1	1	DSG1 (3)	0.02564	1.00000	2.468e-3	3.358e-3	
15q11q13 microduplication syndrome	Developmental delay	1	1	UBE3A (2)	0.02564	1.00000	2.468e-3	3.358e-3	
2-aminoadipic 2-oxoadipic aciduria	Dejerine-sottas disease	1	1	DHTKD1 (6)	0.02564	1.00000	2.468e-3	3.358e-3	
2-aminoadipic 2-oxoadipic aciduria	Hypertrophic neuropathy	1	1	DHTKD1 (6)	0.02564	1.00000	2.468e-3	3.358e-3	
2-aminoadipic 2-oxoadipic aciduria	Roussy-levy syndrome	1	1	DHTKD1 (6)	0.02564	1.00000	2.468e-3	3.358e-3	
ACTN2-related cardiac and skeletal myopathy	Left ventricular noncompaction cardiomyopathy	1	1	ACTN2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Arboleda-tham syndrome	Developmental delay	1	1	KAT6A (3)	0.02564	1.00000	2.468e-3	3.358e-3	
arrhythmogenic right ventricular dysplasia 5	Left ventricular noncompaction cardiomyopathy	1	1	TMEM43 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Ataxia with intention tremor and hypotonia	Uterine neoplasms	1	1	POU4F1 (4)	0.02564	1.00000	2.468e-3	3.358e-3	
Autoinflammation with episodic fever and immune dysregulation	Dermatitis	1	1	SHARPIN (5)	0.02564	1.00000	2.468e-3	3.358e-3	46
autosomal dominant Robinow syndrome	Uterine neoplasms	1	1	WNT5A (2)	0.02564	1.00000	2.468e-3	3.358e-3	
autosomal dominant Robinow syndrome	Vesicoureteral reflux	1	1	WNT5A (2)	0.02564	1.00000	2.468e-3	3.358e-3	
autosomal dominant slowed nerve conduction velocity	Vesicoureteral reflux	1	1	ARHGEF10 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Axial spondylometaphyseal dysplasia	Cone dystrophy	1	1	CFAP410 (3)	0.02564	1.00000	2.468e-3	3.358e-3	
bardet-biedl syndrome 11	Limb girdle muscular dystrophy	1	1	TRIM32 (5)	0.02564	1.00000	2.468e-3	3.358e-3	
Barth syndrome	Left ventricular noncompaction cardiomyopathy	1	1	TAFAZZIN (5)	0.02564	1.00000	2.468e-3	3.358e-3	3
BBS5-related ciliopathy	Cone dystrophy	1	1	BBS5 (2)	0.02564	1.00000	2.468e-3	3.358e-3	7
cardiomyopathy, dilated, 2e	Left ventricular noncompaction cardiomyopathy	1	1	JPH2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	3
cardiomyopathy, dilated, 2l	Left ventricular noncompaction cardiomyopathy	1	1	LDB3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Carnitine deficiency	Dermatitis	1	1	SLC22A5 (3)	0.02564	1.00000	2.468e-3	3.358e-3	
CERKL-related retinopathy	Cone dystrophy	1	1	CERKL (2)	0.02564	1.00000	2.468e-3	3.358e-3	7
Cernunnos-XLF deficiency	Microphthalmia	1	1	NHEJ1 (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Charcot-Marie-Tooth disease axonal type 2P	Dejerine-sottas disease	1	1	LRSAM1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease axonal type 2P	Hypertrophic neuropathy	1	1	LRSAM1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease axonal type 2P	Roussy-levy syndrome	1	1	LRSAM1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease type 2A1	Dejerine-sottas disease	1	1	KIF1B (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Charcot-Marie-Tooth disease type 2D	Dejerine-sottas disease	1	1	GARS1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease type 2T	Dejerine-sottas disease	1	1	MME (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Charcot-Marie-Tooth disease type 2T	Hypertrophic neuropathy	1	1	MME (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Charcot-Marie-Tooth disease type 4	Dejerine-sottas disease	1	1	PRX (4)	0.02564	1.00000	2.468e-3	3.358e-3	
Charcot-Marie-Tooth disease type 4	Hypertrophic neuropathy	1	1	PRX (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Charcot-Marie-Tooth disease type 4B3	Dejerine-sottas disease	1	1	SBF1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease type 4B3	Hypertrophic neuropathy	1	1	SBF1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease type 4B3	Roussy-levy syndrome	1	1	SBF1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease type 4C	Dejerine-sottas disease	1	1	SH3TC2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Charcot-Marie-Tooth disease X-linked dominant 6	Dejerine-sottas disease	1	1	PDK3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease X-linked dominant 6	Hypertrophic neuropathy	1	1	PDK3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
Charcot-Marie-Tooth disease X-linked dominant 6	Roussy-levy syndrome	1	1	PDK3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	13
CHRNG-associated hypo-akinesia disorder of prenatal onset	Myasthenia gravis	1	1	CHRNG (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Chromosome 10q deletion syndrome	Vesicoureteral reflux	1	1	EBF3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Chromosome 1q deletion syndrome	Developmental delay	1	1	ZBTB18 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Chromosome 1q43-q44 deletion syndrome	Developmental delay	1	0	ZBTB18 (1)	0.02564	1.00000	2.468e-3	3.358e-3	
Chromosome 20q11-q12 deletion syndrome	Cutaneous squamous cell carcinoma	1	1	EPB41L1 (3)	0.02564	1.00000	2.468e-3	3.358e-3	16
Beta-sarcoglycanopathy	Limb girdle muscular dystrophy	1	1	SGCB (7)	0.02564	1.00000	2.468e-3	3.358e-3	
Brooke-spiegler syndrome	Uterine neoplasms	1	1	CYLD (6)	0.02564	1.00000	2.468e-3	3.358e-3	
CACNA2D4-related retinopathy	Cone dystrophy	1	1	CACNA2D4 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Cardiac and skeletal myopathy	Left ventricular noncompaction cardiomyopathy	1	1	ACTN2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Developmental delay with ataxia, hypotonia, and facial dysmorphism	Vesicoureteral reflux	1	1	EBF3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Developmental delay	Developmental delay with hypotonia and behavioral abnormalities	1	1	SRCAP (4)	0.02564	1.00000	2.468e-3	3.358e-3	
Developmental delay	Developmental delay with hypotonia and impaired language	1	1	FBXW7 (4)	0.02564	1.00000	2.468e-3	3.358e-3	26
Developmental delay	Developmental delay with variable neurological abnormalities	1	1	LMBRD2 (4)	0.02564	1.00000	2.468e-3	3.358e-3	26
Dilatation of left cardiac ventricle	Left ventricular noncompaction cardiomyopathy	1	0	ACTC1 (1)	0.02564	1.00000	2.468e-3	3.358e-3	
dilated cardiomyopathy 1C	Left ventricular noncompaction cardiomyopathy	1	1	LDB3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
dilated cardiomyopathy 1CC	Left ventricular noncompaction cardiomyopathy	1	1	NEXN (2)	0.02564	1.00000	2.468e-3	3.358e-3	3
dilated cardiomyopathy 1FF	Left ventricular noncompaction cardiomyopathy	1	1	TNNI3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
dilated cardiomyopathy 1J	Left ventricular noncompaction cardiomyopathy	1	1	EYA4 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
dilated cardiomyopathy 1JJ	Left ventricular noncompaction cardiomyopathy	1	1	LAMA4 (2)	0.02564	1.00000	2.468e-3	3.358e-3	3
dilated cardiomyopathy 1KK	Left ventricular noncompaction cardiomyopathy	1	1	MYPN (2)	0.02564	1.00000	2.468e-3	3.358e-3	
dilated cardiomyopathy 1R	Left ventricular noncompaction cardiomyopathy	1	1	ACTC1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
dilated cardiomyopathy 1Y	Left ventricular noncompaction cardiomyopathy	1	1	TPM1 (2)	0.02564	1.00000	2.468e-3	3.358e-3	3
dilated cardiomyopathy 2A	Left ventricular noncompaction cardiomyopathy	1	1	TNNI3 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Congenital membranous nephropathy	Dejerine-sottas disease	1	1	MME (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Congenital membranous nephropathy	Hypertrophic neuropathy	1	1	MME (3)	0.02564	1.00000	2.468e-3	3.358e-3	
Congenital merosin-deficient muscular dystrophy	Limb girdle muscular dystrophy	1	1	LAMA2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	
Congenital posterior urethral valves	Cutaneous squamous cell carcinoma	1	1	BNC2 (2)	0.02564	1.00000	2.468e-3	3.358e-3	16
Glycogen storage disease	Seborrheic keratosis	2	2	TNNT2 (3), PIK3CA (2)	0.02985	0.06452	2.500e-3	3.402e-3	
Mitochondrial encephalopathy	Neuropathy, ataxia, and retinitis pigmentosa	1	0	COX3 (1)	0.06250	0.33333	2.531e-3	3.435e-3	
Congenital respiratory system anomaly	Thyroid gland neoplasms	1	1	PDGFRA (2)	0.06250	0.33333	2.531e-3	3.435e-3	
Raynaud disease	Urethral disease	1	0	ZFHX3 (1)	0.06250	0.33333	2.531e-3	3.435e-3	
Hyperalphalipoproteinemia	Malunion fracture	1	1	SCARB1 (2)	0.06250	0.33333	2.531e-3	3.435e-3	
Hypotonia-cystinuria syndrome	Motor skills disorder	1	1	CAMKMT (3)	0.06250	0.33333	2.531e-3	3.435e-3	
Constitutional mismatch repair deficiency	Intellectual developmental disorder dysmorphic behavioral	1	1	MSH6 (7)	0.06250	0.33333	2.531e-3	3.435e-3	39
Intellectual developmental disorder dysmorphic behavioral	Intracranial hemorrhage	1	1	MSH6 (2)	0.06250	0.33333	2.531e-3	3.435e-3	
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome	Progressive external ophthalmoplegia	1	1	SLC25A4 (3)	0.06250	0.33333	2.531e-3	3.435e-3	
1p36 deletion syndrome	Schwartz-jampel syndrome	1	1	HSPG2 (6)	0.06250	0.33333	2.531e-3	3.435e-3	146
Cholesterol ester transfer protein deficiency	Malunion fracture	1	1	SCARB1 (2)	0.06250	0.33333	2.531e-3	3.435e-3	
Bladder disease	Pruritus	1	1	HRH1 (2)	0.06250	0.33333	2.531e-3	3.435e-3	
Brachydactyly-short stature-retinits pigmentosa syndrome	Osteonecrosis	1	1	CWC27 (3)	0.02500	1.00000	2.533e-3	3.435e-3	316
BBS10-related ciliopathy	Polydactyly	1	1	BBS10 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
BBS12-related ciliopathy	Polydactyly	1	1	BBS12 (2)	0.02500	1.00000	2.533e-3	3.435e-3	8
Charcot-Marie-Tooth disease axonal type 2P	Peroneal muscle atrophy	1	1	LRSAM1 (2)	0.02500	1.00000	2.533e-3	3.435e-3	13
Charcot-Marie-Tooth disease type 4B3	Peroneal muscle atrophy	1	1	SBF1 (2)	0.02500	1.00000	2.533e-3	3.435e-3	13
Charcot-Marie-Tooth disease X-linked dominant 6	Peroneal muscle atrophy	1	1	PDK3 (2)	0.02500	1.00000	2.533e-3	3.435e-3	13
Acheiropody	Polydactyly	1	1	LMBR1 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
immunodeficiency 60	Nasal polyp	1	1	BACH2 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
Osteogenesis imperfecta	SFTPC-related interstitial lung disease	1	1	SFTPC (2)	0.02500	1.00000	2.533e-3	3.435e-3	
Osteonecrosis	skeletal dysplasia, mild, with joint laxity and advanced bone age	1	1	CSGALNACT1 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
Patterson stevenson fontaine syndrome	Polydactyly	1	0	LMBR1 (1)	0.02500	1.00000	2.533e-3	3.435e-3	
isolated sulfite oxidase deficiency	Nasal polyp	1	1	SUOX (2)	0.02500	1.00000	2.533e-3	3.435e-3	
joubert syndrome 17	Polydactyly	1	1	CPLANE1 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
leber congenital amaurosis 15	Polydactyly	1	1	TULP1 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
leukoencephalopathy with vanishing white matter 2	Osteogenesis imperfecta	1	1	EIF2B2 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Polydactyly	1	1	CCND2 (3)	0.02500	1.00000	2.533e-3	3.435e-3	
MEGF8-related Carpenter syndrome	Polydactyly	1	1	MEGF8 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
Metaphyseal chondrodysplasia with retinitis pigmentosa	Osteonecrosis	1	1	CWC27 (4)	0.02500	1.00000	2.533e-3	3.435e-3	316
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	Osteonecrosis	1	1	CWC27 (2)	0.02500	1.00000	2.533e-3	3.435e-3	316
Polydactyly	TTC8-related ciliopathy	1	1	TTC8 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	Vacterl-hydrocephalus syndrome	1	1	FANCB (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Osteogenesis imperfecta	X-linked osteoporosis	1	1	PLS3 (3)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	RAD51C-related cancer predisposition	1	1	RAD51C (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Polydactyly	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	1	1	ATP6V1B1 (2)	0.02500	1.00000	2.533e-3	3.435e-3	
Osteogenesis imperfecta	Respiratory distress with surfactant metabolism deficiency	1	1	SFTPC (3)	0.02500	1.00000	2.533e-3	3.435e-3	
Osteonecrosis	Retinitis pigmentosa with or without skeletal anomalies	1	1	CWC27 (2)	0.02500	1.00000	2.533e-3	3.435e-3	316
familial ovarian cancer	Fanconi anemia	1	1	BRIP1 (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	Fanconi anemia complementation group A	1	1	FANCA (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group b	1	1	FANCB (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	Fanconi anemia complementation group C	1	1	FANCC (8)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group d2	1	1	FANCD2 (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group e	1	1	FANCE (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group f	1	1	FANCF (7)	0.02500	1.00000	2.533e-3	3.435e-3	39
Fanconi anemia	fanconi anemia complementation group g	1	1	FANCG (6)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group i	1	1	FANCI (6)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group j	1	1	BRIP1 (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group l	1	1	FANCL (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group o	1	1	RAD51C (7)	0.02500	1.00000	2.533e-3	3.435e-3	
Fanconi anemia	fanconi anemia complementation group p	1	1	SLX4 (8)	0.02500	1.00000	2.533e-3	3.435e-3	39
Fanconi anemia	Fanconi anemia complementation group U	1	1	XRCC2 (7)	0.02500	1.00000	2.533e-3	3.435e-3	39
Frontonasal dysplasia with alopecia and genital anomaly	Polydactyly	1	1	ALX4 (6)	0.02500	1.00000	2.533e-3	3.435e-3	
Congenital hemivertebra	Jarcho-levin syndrome	1	0	DLL3 (1)	0.07692	0.20000	2.595e-3	3.501e-3	
Congenital hemivertebra	Spondylocostal dysostosis	1	1	DLL3 (5)	0.07692	0.20000	2.595e-3	3.501e-3	
Frontotemporal dementia with motor neuron disease	Paget disease	1	1	SQSTM1 (5)	0.07692	0.20000	2.595e-3	3.501e-3	
Alcoholic hepatitis	Chondromalacia	1	1	SULT1E1 (2)	0.07692	0.20000	2.595e-3	3.501e-3	43
Brain edema	Congenital mirror movements	1	1	NTN1 (3)	0.07143	0.25000	2.595e-3	3.501e-3	
Coronary syndrome	Endometrial hyperplasia	1	1	CELSR2 (3)	0.07143	0.25000	2.595e-3	3.501e-3	
Common migraine	Coronary syndrome	1	1	PHACTR1 (2)	0.07143	0.25000	2.595e-3	3.501e-3	
Ap-4 deficiency syndrome	Brain atrophy	1	1	AP4M1 (3)	0.07143	0.25000	2.595e-3	3.501e-3	
Ap4-related intellectual disability and spastic paraplegia	Brain atrophy	1	1	AP4M1 (2)	0.07143	0.25000	2.595e-3	3.501e-3	
Autoimmune nervous system disorder	Peritoneal neoplasms	1	1	MCAM (2)	0.07143	0.25000	2.595e-3	3.501e-3	86
Contracture	Male reproductive system disease	1	0	WNT7B (1)	0.07143	0.25000	2.595e-3	3.501e-3	
Laryngeal carcinoma	Male reproductive system disease	1	0	WNT7B (1)	0.07143	0.25000	2.595e-3	3.501e-3	
Brain edema	Mirror movements	1	1	NTN1 (4)	0.07143	0.25000	2.595e-3	3.501e-3	
monogenic diabetes	Wallerian degeneration	1	1	SIRT1 (2)	0.07143	0.25000	2.595e-3	3.501e-3	
Porphyria	X-linked sideroblastic anemia	1	1	ALAS2 (5)	0.07143	0.25000	2.595e-3	3.501e-3	
Urethral syndrome	Visual disorder	1	0	MAGI2 (1)	0.04545	0.50000	2.596e-3	3.501e-3	
Congenital diaphragmatic hernia	Witteveen-kolk syndrome	1	1	SIN3A (4)	0.04545	0.50000	2.596e-3	3.501e-3	362
Dandy-walker syndrome	Noonan syndrome-like disorder with loose anagen hair	1	1	PPP1CB (2)	0.04545	0.50000	2.596e-3	3.501e-3	
Hereditary folate malabsorption	Visual disorder	1	1	SARM1 (2)	0.04545	0.50000	2.596e-3	3.501e-3	
immunodeficiency 104	Upper respiratory tract disorder	1	1	IL7R (2)	0.04545	0.50000	2.596e-3	3.501e-3	103
Platelet-type bleeding disorder	qualitative platelet defect	1	1	TBXA2R (5)	0.04545	0.50000	2.596e-3	3.501e-3	
Congenital cataract microcornea with corneal opacity	Visual disorder	1	1	PXDN (3)	0.04545	0.50000	2.596e-3	3.501e-3	
Bulimia	Dysphonia	1	0	COMT (1)	0.04545	0.50000	2.596e-3	3.501e-3	181
Aortic atherosclerosis	Hypertensive nephropathy	1	0	NYAP2 (1)	0.04545	0.50000	2.596e-3	3.501e-3	
Dandy-walker syndrome	Developmental delay with short stature and dysmorphic facial features	1	1	DPH1 (7)	0.04545	0.50000	2.596e-3	3.501e-3	
Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome	Dandy-walker syndrome	1	1	DPH1 (3)	0.04545	0.50000	2.596e-3	3.501e-3	
congenital myasthenic syndrome 12	Myasthenic syndrome	1	1	GFPT1 (4)	0.02439	1.00000	2.598e-3	3.501e-3	5
congenital myasthenic syndrome 2A	Myasthenic syndrome	1	1	CHRNB1 (4)	0.02439	1.00000	2.598e-3	3.501e-3	
congenital myasthenic syndrome 2C	Myasthenic syndrome	1	1	CHRNB1 (4)	0.02439	1.00000	2.598e-3	3.501e-3	
congenital myasthenic syndrome 6	Myasthenic syndrome	1	1	CHAT (3)	0.02439	1.00000	2.598e-3	3.501e-3	5
congenital myasthenic syndrome 7	Myasthenic syndrome	1	1	SYT2 (6)	0.02439	1.00000	2.598e-3	3.501e-3	5
congenital myasthenic syndrome 8	Myasthenic syndrome	1	1	AGRN (4)	0.02439	1.00000	2.598e-3	3.501e-3	5
Congenital thrombotic disease	Generalized anxiety disorder	1	1	SI (2)	0.02439	1.00000	2.598e-3	3.501e-3	75
CTNNA1-related diffuse gastric and lobular breast cancer syndrome	Generalized anxiety disorder	1	1	CTNNA1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Bladder calculus	Cirrhosis dystonia polycythemia hypermanganesemia syndrome	1	1	SLC30A10 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Bladder calculus	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	1	1	SLC30A10 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Cleft lip/palate with abnormal thumbs and microcephaly	Kidney neoplasms	1	1	ESCO2 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Colonic disease	Hyperlipoproteinemia	1	0	GHR (1)	0.02439	1.00000	2.598e-3	3.501e-3	
Carnitine deficiency	Myasthenic syndrome	1	1	SLC22A5 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
CEP164-related ciliopathy	Nephronophthisis	1	1	CEP164 (5)	0.02439	1.00000	2.598e-3	3.501e-3	8
Cervicitis	Kidney neoplasms	1	1	IL32 (2)	0.02439	1.00000	2.598e-3	3.501e-3	214
Charcot-Marie-tooth disease, axonal, type 2DD	Neuromuscular disease	1	1	ATP1A1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
CHRNG-associated hypo-akinesia disorder of prenatal onset	Myasthenic syndrome	1	1	CHRNG (3)	0.02439	1.00000	2.598e-3	3.501e-3	
Apolipoprotein a-ii amyloidosis	Hyperlipoproteinemia	1	1	APOA2 (3)	0.02439	1.00000	2.598e-3	3.501e-3	
Apolipoprotein a-ii deficiency	Hyperlipoproteinemia	1	1	APOA2 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Apolipoprotein a5 deficiency	Hyperlipoproteinemia	1	1	APOA5 (6)	0.02439	1.00000	2.598e-3	3.501e-3	57
Apolipoprotein c-ii deficiency	Hyperlipoproteinemia	1	1	APOC2 (3)	0.02439	1.00000	2.598e-3	3.501e-3	
Apolipoprotein c-iii deficiency	Hyperlipoproteinemia	1	1	APOC3 (4)	0.02439	1.00000	2.598e-3	3.501e-3	
Apolipoprotein c2 deficiency	Hyperlipoproteinemia	1	1	APOC2 (5)	0.02439	1.00000	2.598e-3	3.501e-3	
Argininosuccinic aciduria	Myasthenic syndrome	1	1	ASL (7)	0.02439	1.00000	2.598e-3	3.501e-3	
auriculocondylar syndrome 2	Uveal melanoma	1	1	PLCB4 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
bardet-biedl syndrome 16	Nephronophthisis	1	1	SDCCAG8 (2)	0.02439	1.00000	2.598e-3	3.501e-3	8
BBS9-related ciliopathy	Nephronophthisis	1	1	BBS9 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Developmental delay with hypotonia, myopathy, and brain abnormalities	Neuromuscular disease	1	1	GOLGA2 (3)	0.02439	1.00000	2.598e-3	3.501e-3	131
Diffuse gastric and lobular breast cancer syndrome	Generalized anxiety disorder	1	1	CTNNA1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
DPAGT1-congenital disorder of glycosylation	Myasthenic syndrome	1	1	DPAGT1 (4)	0.02439	1.00000	2.598e-3	3.501e-3	
Bjornstad syndrome	Neuromuscular disease	1	1	BCS1L (6)	0.02439	1.00000	2.598e-3	3.501e-3	131
Borderline personality disorder	Kidney neoplasms	1	1	TPH1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	214
Cardiac and skeletal myopathy	Neuromuscular disease	1	1	ACTN2 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
17q21.31 microdeletion syndrome	Bladder calculus	1	1	KANSL1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
ACTN2-related cardiac and skeletal myopathy	Neuromuscular disease	1	1	ACTN2 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
ALG2-congenital disorder of glycosylation	Myasthenic syndrome	1	1	ALG2 (4)	0.02439	1.00000	2.598e-3	3.501e-3	5
amyotrophic lateral sclerosis type 10	Degenerative disorder	1	1	TARDBP (2)	0.02439	1.00000	2.598e-3	3.501e-3	
amyotrophic lateral sclerosis type 6	Degenerative disorder	1	1	FUS (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Nephronophthisis	renal-hepatic-pancreatic dysplasia 2	1	1	NEK8 (6)	0.02439	1.00000	2.598e-3	3.501e-3	
Kidney neoplasms	Roberts syndrome	1	1	ESCO2 (3)	0.02439	1.00000	2.598e-3	3.501e-3	
Kidney neoplasms	Roberts-sc phocomelia syndrome	1	1	ESCO2 (5)	0.02439	1.00000	2.598e-3	3.501e-3	
Hecht syndrome	Neuromuscular disease	1	1	MYH8 (3)	0.02439	1.00000	2.598e-3	3.501e-3	
Hepatic lipase deficiency	Hyperlipoproteinemia	1	1	LIPC (3)	0.02439	1.00000	2.598e-3	3.501e-3	
Interstitial cystitis	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	1	1	VARS1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	1
Myasthenic syndrome	neuronopathy, distal hereditary motor, type 7A	1	1	SLC5A7 (4)	0.02439	1.00000	2.598e-3	3.501e-3	5
Degenerative disorder	Pantothenate kinase-associated neurodegeneration	1	1	PANK2 (4)	0.02439	1.00000	2.598e-3	3.501e-3	
Neuromuscular disease	Triose phosphate isomerase deficiency	1	1	TPI1 (6)	0.02439	1.00000	2.598e-3	3.501e-3	
Neuromuscular disease	Trismus-pseudocamptodactyly syndrome	1	1	MYH8 (3)	0.02439	1.00000	2.598e-3	3.501e-3	
tumor predisposition syndrome 2	Uveal melanoma	1	1	MBD4 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Degenerative disorder	vertebral, cardiac, renal, and limb defects syndrome 2	1	1	KYNU (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Degenerative disorder	Striatal neurodegeneration	1	1	PDE8B (4)	0.02439	1.00000	2.598e-3	3.501e-3	
Myasthenic syndrome	Systemic primary carnitine deficiency	1	1	SLC22A5 (4)	0.02439	1.00000	2.598e-3	3.501e-3	
Interstitial cystitis	Thiopurine immunosuppressant-induced pancreatitis	1	0	HLA-DQB3 (1)	0.02439	1.00000	2.598e-3	3.501e-3	1
Generalized anxiety disorder	Tolchin-le caignec syndrome	1	1	SOX6 (4)	0.02439	1.00000	2.598e-3	3.501e-3	75
hypercholesterolemia, autosomal dominant, 3	Hyperlipoproteinemia	1	1	PCSK9 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
hypercholesterolemia, familial, 1	Hyperlipoproteinemia	1	1	LDLR (3)	0.02439	1.00000	2.598e-3	3.501e-3	57
hypercholesterolemia, familial, 4	Hyperlipoproteinemia	1	1	LDLRAP1 (3)	0.02439	1.00000	2.598e-3	3.501e-3	57
Hypo-akinesia disorder of prenatal onset	Myasthenic syndrome	1	1	CHRNG (4)	0.02439	1.00000	2.598e-3	3.501e-3	
immunodeficiency 109 with lymphoproliferation	Kidney neoplasms	1	1	TNFRSF9 (2)	0.02439	1.00000	2.598e-3	3.501e-3	214
Bladder calculus	inherited pseudoxanthoma elasticum	1	1	ABCC6 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Intellectual developmental disorder seizures behavioral	Myasthenic syndrome	1	1	ALG14 (4)	0.02439	1.00000	2.598e-3	3.501e-3	5
MKKS-related ciliopathy	Nephronophthisis	1	1	MKKS (2)	0.02439	1.00000	2.598e-3	3.501e-3	8
Nephronophthisis	nephronophthisis 1	1	1	NPHP1 (6)	0.02439	1.00000	2.598e-3	3.501e-3	8
Nephronophthisis	nephronophthisis 12	1	1	TTC21B (5)	0.02439	1.00000	2.598e-3	3.501e-3	
Nephronophthisis	nephronophthisis 16	1	1	ANKS6 (7)	0.02439	1.00000	2.598e-3	3.501e-3	
Nephronophthisis	nephronophthisis 2	1	1	INVS (6)	0.02439	1.00000	2.598e-3	3.501e-3	8
Nephronophthisis	nephronophthisis 20	1	1	MAPKBP1 (6)	0.02439	1.00000	2.598e-3	3.501e-3	8
Nephronophthisis	nephronophthisis 4	1	1	NPHP4 (7)	0.02439	1.00000	2.598e-3	3.501e-3	8
Nephronophthisis	nephronophthisis 7	1	1	GLIS2 (6)	0.02439	1.00000	2.598e-3	3.501e-3	8
Nephronophthisis	nephronophthisis-like nephropathy 1	1	1	XPNPEP3 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
nephrotic syndrome 14	Uveal melanoma	1	1	SGPL1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	263
INTU-related skeletal ciliopathy	Nephronophthisis	1	1	INTU (2)	0.02439	1.00000	2.598e-3	3.501e-3	
kidney disorder	Nephronophthisis	1	1	SLC41A1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Bladder calculus	koolen-de vries syndrome	1	1	KANSL1 (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Generalized anxiety disorder	leukodystrophy, hypomyelinating, 16	1	1	TMEM106B (2)	0.02439	1.00000	2.598e-3	3.501e-3	
Congenital disorder of glycosylation	Intellectual developmental disorder, x-linked	4	4	ALG13 (2), MAGT1 (4), ATP6AP1 (3), ATP6AP2 (5)	0.02162	0.04494	2.585e-3	3.501e-3	
amyotrophic lateral sclerosis type 10	Neurodegenerative disorder	1	1	TARDBP (3)	0.02381	1.00000	2.663e-3	3.584e-3	
Anhidrotic ectodermal dysplasia	Tooth agenesis	1	1	EDA (6)	0.02381	1.00000	2.663e-3	3.584e-3	76
aortic valve disease 3	Thoracic aortic aneurysm and aortic dissection	1	1	ROBO4 (2)	0.02381	1.00000	2.663e-3	3.584e-3	
Arteriosclerosis	Corneal injury	1	1	ALDH3A1 (2)	0.02381	1.00000	2.663e-3	3.584e-3	57
craniofacial dysplasia - osteopenia syndrome	Tooth agenesis	1	1	IRX5 (4)	0.02381	1.00000	2.663e-3	3.584e-3	
craniosynostosis 2	Tooth agenesis	1	1	MSX2 (2)	0.02381	1.00000	2.663e-3	3.584e-3	
Bullous pyoderma gangrenosum	Heart valve disease	1	1	PTPN6 (3)	0.02381	1.00000	2.663e-3	3.584e-3	
Heart valve disease	lissencephaly 10	1	1	CEP85L (2)	0.02381	1.00000	2.663e-3	3.584e-3	
Neurodegenerative disorder	vertebral, cardiac, renal, and limb defects syndrome 2	1	1	KYNU (3)	0.02381	1.00000	2.663e-3	3.584e-3	
Heart valve disease	Vitamin k deficiency	1	1	BGLAP (2)	0.02381	1.00000	2.663e-3	3.584e-3	391
ectodermal dysplasia WNT10A related	Tooth agenesis	1	1	WNT10A (8)	0.02381	1.00000	2.663e-3	3.584e-3	
Heart valve disease	Pyoderma gangrenosum	1	1	PTPN6 (3)	0.02381	1.00000	2.663e-3	3.584e-3	
Neurodegenerative disorder	Regressive neurodevelopmental disorder dystonia seizures	1	1	IRF2BPL (3)	0.02381	1.00000	2.663e-3	3.584e-3	
oligodontia-cancer predisposition syndrome	Tooth agenesis	1	1	AXIN2 (3)	0.02381	1.00000	2.663e-3	3.584e-3	
Neurodegenerative disorder	Pantothenate kinase-associated neurodegeneration	1	1	PANK2 (4)	0.02381	1.00000	2.663e-3	3.584e-3	
neurodegenerative disease	Neurodegenerative disorder	1	1	IRF2BPL (2)	0.02381	1.00000	2.663e-3	3.584e-3	
Schopf-schulz-passarge syndrome	Tooth agenesis	1	1	WNT10A (7)	0.02381	1.00000	2.663e-3	3.584e-3	
Neurodegenerative disorder	Striatal neurodegeneration	1	1	PDE8B (5)	0.02381	1.00000	2.663e-3	3.584e-3	
T-cell immunodeficiency	Tooth agenesis	1	1	FOXI3 (2)	0.02381	1.00000	2.663e-3	3.584e-3	
Tooth agenesis	tooth agenesis, selective, 3	1	1	PAX9 (6)	0.02381	1.00000	2.663e-3	3.584e-3	76
Tooth agenesis	tooth agenesis, selective, 9	1	1	GREM2 (5)	0.02381	1.00000	2.663e-3	3.584e-3	76
Absence epilepsy	Synovial disorder	1	1	GABRB3 (2)	0.07692	0.16667	2.725e-3	3.652e-3	227
Cold paroxysmal hemoglobinuria	Terminal complement component deficiency	1	0	C5 (1)	0.07692	0.16667	2.725e-3	3.652e-3	
Hemoglobinuria paroxysmal	Terminal complement component deficiency	1	0	C5 (1)	0.07692	0.16667	2.725e-3	3.652e-3	
Congenital hearing disorder	hearing loss, autosomal recessive	1	1	SLC22A4 (2)	0.07692	0.16667	2.725e-3	3.652e-3	
Eyelid disease	Peritonitis	1	1	IFNG (2)	0.07692	0.16667	2.725e-3	3.652e-3	
Peritonitis	Tuberous sclerosis complex	1	1	IFNG (4)	0.07692	0.16667	2.725e-3	3.652e-3	
Cold paroxysmal hemoglobinuria	Peritonitis	1	1	C5 (2)	0.07692	0.16667	2.725e-3	3.652e-3	
Carotid atherosclerosis	Mandibulofacial dysostosis	1	1	EDNRA (6)	0.07692	0.16667	2.725e-3	3.652e-3	
Cafe-au-lait spots	Corticobasal degeneration	1	1	SOS1 (2)	0.07692	0.16667	2.725e-3	3.652e-3	
Crisponi syndrome	Esophageal ulcer	1	1	CRLF1 (5)	0.05882	0.33333	2.725e-3	3.652e-3	
Bile acid malabsorption	Intestinal disease	1	1	SLC10A2 (5)	0.05882	0.33333	2.725e-3	3.652e-3	
Cold-induced sweating syndrome	Esophageal ulcer	1	1	CRLF1 (5)	0.05882	0.33333	2.725e-3	3.652e-3	
Cerebral artery occlusion	Hyperemia	1	1	ADCYAP1 (3)	0.05882	0.33333	2.725e-3	3.652e-3	
Bicuspid aortic valve	Throat disease	1	1	GATA5 (3)	0.05882	0.33333	2.725e-3	3.652e-3	
Avascular necrosis of bone	Torg-winchester syndrome	1	0	MMP2 (1)	0.05882	0.33333	2.725e-3	3.652e-3	
Metabolic bone disorder	Torg-winchester syndrome	1	0	MMP2 (1)	0.05882	0.33333	2.725e-3	3.652e-3	
Partington syndrome	X-linked syndromic complex neurodevelopmental disorder	1	1	AP1S2 (2)	0.05882	0.33333	2.725e-3	3.652e-3	
Male infertility y chromosome microdeletion	Spermatogenic failure, y-linked	1	1	USP9Y (4)	0.05882	0.33333	2.725e-3	3.652e-3	
Bouillaud’s disease	Fatigue syndrome	1	0	HLA-DQA1 (1)	0.05882	0.33333	2.725e-3	3.652e-3	
Lymphoproliferative syndrome	MHC class I deficiency	1	1	TAP2 (2)	0.05882	0.33333	2.725e-3	3.652e-3	
Cleft palate and bilateral cleft lip	Mitochondrial encephalopathy	1	0	COX3 (1)	0.05882	0.33333	2.725e-3	3.652e-3	
Hemorrhagic disease	qualitative platelet defect	1	1	TBXA2R (3)	0.04348	0.50000	2.726e-3	3.652e-3	
Ataxia	Ophthalmoplegia	1	1	NPC1 (2)	0.04348	0.50000	2.726e-3	3.652e-3	
Ataxia	Parkinsonian-pyramidal syndrome	1	1	SNCA (2)	0.04348	0.50000	2.726e-3	3.652e-3	
Bladder exstrophy	Vitreous body disease	1	0	NCKAP5 (1)	0.04348	0.50000	2.726e-3	3.652e-3	
Cardiofacial dysplasia	Cushing syndrome	1	1	PRKACB (5)	0.04348	0.50000	2.726e-3	3.652e-3	
Beta thalassemia	Chorioretinal atrophy	1	0	- (1)	0.04348	0.50000	2.726e-3	3.652e-3	
Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome	Intracerebral hemorrhage	1	1	DPH1 (4)	0.04348	0.50000	2.726e-3	3.652e-3	
Acrodysostosis	Cushing syndrome	1	1	PRKAR1A (3)	0.04348	0.50000	2.726e-3	3.652e-3	
Developmental delay with short stature and dysmorphic facial features	Intracerebral hemorrhage	1	1	DPH1 (6)	0.04348	0.50000	2.726e-3	3.652e-3	
Dent disease type 1	Proteinuria	1	1	CLCN5 (4)	0.02326	1.00000	2.728e-3	3.652e-3	
diencephalic-mesencephalic junction dysplasia syndrome 2	Lupus nephritis	1	1	GSX2 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
dilated cardiomyopathy 1V	Jeune syndrome	1	1	PSEN2 (3)	0.02326	1.00000	2.728e-3	3.652e-3	19
Breast/nipple aplasia or hypoplasia	Hyperinsulinism	1	1	PTPRF (5)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	carnitine palmitoyltransferase II deficiency	1	1	CPT2 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	cerebroretinal microangiopathy with calcifications and cysts 1	1	1	CTC1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
3-hydroxyacyl-coa dehydrogenase deficiency	Hyperinsulinism	1	1	HADH (6)	0.02326	1.00000	2.728e-3	3.652e-3	
Abetalipoproteinemia	Hyperinsulinism	1	1	MTTP (2)	0.02326	1.00000	2.728e-3	3.652e-3	35
Adenosine kinase deficiency	Hypospadias	1	1	ADK (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Alveolar capillary dysplasia	Ventricular septal defect	1	1	FOXF1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Anus neoplasms	Brain disease	1	1	IFNB1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Autoimmune enteropathy and endocrinopathy	Lupus nephritis	1	1	STAT1 (5)	0.02326	1.00000	2.728e-3	3.652e-3	
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	Lupus nephritis	1	1	STAT1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Autoinflammation with arthritis and vasculitis	Brain disease	1	1	TBK1 (4)	0.02326	1.00000	2.728e-3	3.652e-3	
Autoinflammation, immune dysregulation, and eosinophilia	Lupus nephritis	1	1	JAK1 (5)	0.02326	1.00000	2.728e-3	3.652e-3	
coffin-lowry syndrome	Ventricular septal defect	1	1	RPS6KA3 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Congenital absence of breast with absent nipple	Hyperinsulinism	1	0	PTPRF (1)	0.02326	1.00000	2.728e-3	3.652e-3	
Congenital alveolar capillary dysplasia	Ventricular septal defect	1	1	FOXF1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	Congenital brain dysgenesis due to glutamine synthetase deficiency	1	1	GLUL (6)	0.02326	1.00000	2.728e-3	3.652e-3	
Hypospadias	vertebral, cardiac, renal, and limb defects syndrome 1	1	1	HAAO (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Chronic obstructive pulmonary disease	Winchester syndrome	1	1	MMP14 (5)	0.02326	1.00000	2.728e-3	3.652e-3	
Proteinuria	X-linked nephrolithiasis	1	1	CLCN5 (4)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	Xerosis with immune and pulmonary dysfunction syndrome	1	1	DBR1 (4)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	Xgip syndrome	1	0	DBR1 (1)	0.02326	1.00000	2.728e-3	3.652e-3	
Jeune syndrome	NIK deficiency	1	1	MAP3K14 (2)	0.02326	1.00000	2.728e-3	3.652e-3	19
Hyperinsulinism	obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	1	1	HADH (4)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	ornithine carbamoyltransferase deficiency	1	1	OTC (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Lupus nephritis	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	1	1	STAT1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
mucopolysaccharidosis type 7	Proteinuria	1	1	GUSB (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	neurodegenerative syndrome due to cerebral folate transport deficiency	1	1	FOLR1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Say meyer syndrome	Ventricular septal defect	1	0	HUWE1 (1)	0.02326	1.00000	2.728e-3	3.652e-3	
Hypospadias	schuurs-hoeijmakers syndrome	1	1	PACS1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	23
Jeune syndrome	short-rib thoracic dysplasia 11 with or without polydactyly	1	1	DYNC2I2 (4)	0.02326	1.00000	2.728e-3	3.652e-3	19
Jeune syndrome	short-rib thoracic dysplasia 16 with or without polydactyly	1	1	IFT52 (2)	0.02326	1.00000	2.728e-3	3.652e-3	19
Jeune syndrome	short-rib thoracic dysplasia 17 with or without polydactyly	1	1	DYNLT2B (2)	0.02326	1.00000	2.728e-3	3.652e-3	19
Brain disease	succinic semialdehyde dehydrogenase deficiency	1	1	ALDH5A1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Chronic obstructive pulmonary disease	susceptibility to respiratory infections associated with CD8alpha chain mutation	1	1	CD8A (2)	0.02326	1.00000	2.728e-3	3.652e-3	133
KIZ-related retinopathy	Lupus nephritis	1	1	KIZ (2)	0.02326	1.00000	2.728e-3	3.652e-3	1
Laryngeal hypoplasia	Ventricular septal defect	1	0	FOXP4 (1)	0.02326	1.00000	2.728e-3	3.652e-3	
Proteinuria	pseudohypoaldosteronism, type IB1, autosomal recessive	1	1	SCNN1A (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Hypospadias	Rhizomelic limb shortening with dysmorphic features	1	1	PKDCC (5)	0.02326	1.00000	2.728e-3	3.652e-3	23
Right hypoplastic heart syndrome	Ventricular septal defect	1	0	TBX20 (1)	0.02326	1.00000	2.728e-3	3.652e-3	41
Erythrocyte lactate transporter defect	Hyperinsulinism	1	1	SLC16A1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Fanconi anemia complementation group A	Hyperinsulinism	1	1	FANCA (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Fatty acid and ketone body metabolism disorder	Hyperinsulinism	1	1	SLC16A1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Fatty acid oxidation and ketone body metabolism disorder	Hyperinsulinism	1	0	SLC16A1 (1)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	1	1	TBK1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
hereditary angioedema with C1Inh deficiency	Lupus nephritis	1	1	SERPING1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Hereditary c1 esterase inhibitor deficiency	Lupus nephritis	1	1	SERPING1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
hereditary mixed polyposis syndrome	Hypospadias	1	1	GREM1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
holt-oram syndrome	Ventricular septal defect	1	1	TBX5 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Brain disease	hyperekplexia 3	1	1	SLC6A5 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Hyperinsulinism	Hyperinsulinism-hyperammonemia syndrome	1	1	GLUD1 (6)	0.02326	1.00000	2.728e-3	3.652e-3	35
Hyperinsulinism	Hyperthermia	1	1	GPX1 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
Hypospadias	idiopathic multidrug-resistant nephrotic syndrome	1	1	DAAM2 (2)	0.02326	1.00000	2.728e-3	3.652e-3	
immunodeficiency 31b	Lupus nephritis	1	1	STAT1 (3)	0.02326	1.00000	2.728e-3	3.652e-3	
Hurthle cell thyroid cancer	Nystagmus	1	1	NDUFA13 (2)	0.02273	1.00000	2.793e-3	3.736e-3	
intellectual disability, autosomal dominant 42	Nystagmus	1	1	GNB1 (2)	0.02273	1.00000	2.793e-3	3.736e-3	
mucopolysaccharidosis type 3A	Nystagmus	1	1	SGSH (2)	0.02273	1.00000	2.793e-3	3.736e-3	
Panhypopituitarism	Winkelman bethge pfeiffer syndrome	1	1	LHX3 (2)	0.02273	1.00000	2.793e-3	3.736e-3	
Nystagmus	X-linked intellectual disability-cerebellar hypoplasia syndrome	1	1	OPHN1 (2)	0.02273	1.00000	2.793e-3	3.736e-3	
Leukemia	SYNCRIP-related neurodevelopmental disorder	1	1	SYNCRIP (2)	0.02273	1.00000	2.793e-3	3.736e-3	89
frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Panhypopituitarism	1	1	CHMP2B (2)	0.02273	1.00000	2.793e-3	3.736e-3	
GPR143-related foveal hypoplasia	Nystagmus	1	1	GPR143 (6)	0.02273	1.00000	2.793e-3	3.736e-3	
Griscelli syndrome type 1	Nystagmus	1	1	MYO5A (2)	0.02273	1.00000	2.793e-3	3.736e-3	
Nasopharyngeal neoplasms	pyruvate dehydrogenase E3 deficiency	1	1	DLD (2)	0.02273	1.00000	2.793e-3	3.736e-3	
Early-onset obesity-hyperphagia-severe developmental delay syndrome	Nasopharyngeal neoplasms	1	1	NTRK2 (2)	0.02273	1.00000	2.793e-3	3.736e-3	
CNGB3-related retinopathy	Nystagmus	1	1	CNGB3 (2)	0.02273	1.00000	2.793e-3	3.736e-3	
Boudin-mortier syndrome	Marfan syndrome	1	1	NPR3 (5)	0.02273	1.00000	2.793e-3	3.736e-3	50
Dna ligase iv deficiency	Nasopharyngeal neoplasms	1	1	LIG4 (4)	0.02273	1.00000	2.793e-3	3.736e-3	
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	Leukemia	1	1	PPP1R13L (2)	0.02273	1.00000	2.793e-3	3.736e-3	
ATF6-related retinopathy	Nystagmus	1	1	ATF6 (2)	0.02273	1.00000	2.793e-3	3.736e-3	
Cerebellar cortical atrophy	Nystagmus	1	0	MYO5A (1)	0.02273	1.00000	2.793e-3	3.736e-3	
Chromosomal disorder	Silver-russell syndrome	1	1	GRB10 (2)	0.06667	0.25000	2.855e-3	3.796e-3	323
Ataxia telangiectasia	Chromosome 2q37 deletion syndrome	1	1	HDAC4 (4)	0.06667	0.25000	2.855e-3	3.796e-3	
Central serous retinopathy	Developmental delay with impaired growth and dysmorphic facies	1	1	ARFGEF1 (4)	0.06667	0.25000	2.855e-3	3.796e-3	
Demyelinating diseases	Wallerian degeneration	1	1	SIRT1 (2)	0.06667	0.25000	2.855e-3	3.796e-3	
Knobloch syndrome	Transposition of the great arteries	1	0	SLC19A1 (1)	0.06667	0.25000	2.855e-3	3.796e-3	
Hyperemesis gravidarum	Sideroblastic anemia	1	1	GDF15 (4)	0.06667	0.25000	2.855e-3	3.796e-3	
Sarcopenia	Xeroderma	1	1	SUPV3L1 (2)	0.06667	0.25000	2.855e-3	3.796e-3	
Testicular hydrocele	Testotoxicosis	1	1	INHBB (3)	0.06667	0.25000	2.855e-3	3.796e-3	
Sialolithiasis	Soft tissue neoplasms	1	0	EPHB1 (1)	0.04167	0.50000	2.856e-3	3.796e-3	
Severe congenital neutropenia	Specific granule deficiency	1	1	SMARCD2 (5)	0.04167	0.50000	2.856e-3	3.796e-3	
Sweat gland disease	Synovitis, acne, pustulosis, hyperostosis, and osteitis	1	0	TCERG1L (1)	0.04167	0.50000	2.856e-3	3.796e-3	
Keratitis	Thyroid hormone resistance	1	1	TRHR (3)	0.04167	0.50000	2.856e-3	3.796e-3	
Intestinal polyposis	Keratitis	1	1	STK11 (3)	0.04167	0.50000	2.856e-3	3.796e-3	
Iron metabolism disorder	Iron-refractory iron deficiency anemia	1	1	TMPRSS6 (5)	0.04167	0.50000	2.856e-3	3.796e-3	
Gastritis	Keratosis palmoplantaris papulosa	1	1	COL14A1 (2)	0.04167	0.50000	2.856e-3	3.796e-3	1
Severe congenital neutropenia	Whim syndrome	1	1	CXCR2 (6)	0.04167	0.50000	2.856e-3	3.796e-3	
Severe congenital neutropenia	Wiskott-aldrich syndrome	1	1	WAS (7)	0.04167	0.50000	2.856e-3	3.796e-3	
Centronuclear myopathy	X-linked myotubular myopathy	1	1	MTM1 (4)	0.04167	0.50000	2.856e-3	3.796e-3	
Factor viii deficiency	Venous thrombosis	1	1	F8 (2)	0.04167	0.50000	2.856e-3	3.796e-3	
Erythematosquamous dermatosis	Primary cutaneous anaplastic large cell lymphoma	1	1	TYK2 (2)	0.04167	0.50000	2.856e-3	3.796e-3	
Blepharitis	Erythematosquamous dermatosis	1	0	MC1R (1)	0.04167	0.50000	2.856e-3	3.796e-3	
Congenital nervous system disorder	Febrile convulsion	1	1	UNC13A (3)	0.04167	0.50000	2.856e-3	3.796e-3	
Congenital bilateral absence of vas deferens	Sinusitis	1	1	CFTR (5)	0.04167	0.50000	2.856e-3	3.796e-3	
Acral peeling skin syndrome	Nasopharyngeal carcinoma	1	1	CSTA (2)	0.04167	0.50000	2.856e-3	3.796e-3	
Agenesis of corpus callosum	Cerebral arteriovenous malformations	1	1	CDH2 (2)	0.04167	0.50000	2.856e-3	3.796e-3	
Congenital microtia	Dystonia	1	1	PRKRA (6)	0.02222	1.00000	2.858e-3	3.796e-3	
Cranio-cervical dystonia	Dystonia	1	1	ANO3 (6)	0.02222	1.00000	2.858e-3	3.796e-3	
Deafness dystonia syndrome	Dystonia	1	1	TIMM8A (3)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	Dock2 deficiency	1	1	DOCK2 (5)	0.02222	1.00000	2.858e-3	3.796e-3	
dopa-responsive dystonia due to sepiapterin reductase deficiency	Dystonia	1	1	SPR (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Benign concentric annular macular dystrophy	Macular dystrophy	1	1	IMPG1 (5)	0.02222	1.00000	2.858e-3	3.796e-3	
Cirrhosis dystonia polycythemia hypermanganesemia syndrome	Dystonia	1	1	SLC30A10 (3)	0.02222	1.00000	2.858e-3	3.796e-3	
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	Dystonia	1	1	SLC30A10 (3)	0.02222	1.00000	2.858e-3	3.796e-3	
CNGA1-related retinopathy	Macular dystrophy	1	1	CNGA1 (2)	0.02222	1.00000	2.858e-3	3.796e-3	7
CNGA3-related retinopathy	Macular dystrophy	1	1	CNGA3 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
CNGB3-related retinopathy	Macular dystrophy	1	1	CNGB3 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Colonic disease	Pituitary dwarfism	1	0	GHR (1)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	combined immunodeficiency due to CD3gamma deficiency	1	1	CD3G (5)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	combined immunodeficiency due to DOCK8 deficiency	1	1	DOCK8 (5)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	combined immunodeficiency due to GINS1 deficiency	1	1	GINS1 (5)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	combined immunodeficiency due to LRBA deficiency	1	1	LRBA (3)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	combined immunodeficiency due to MALT1 deficiency	1	1	MALT1 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	combined immunodeficiency due to moesin deficiency	1	1	MSN (5)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	combined immunodeficiency due to OX40 deficiency	1	1	TNFRSF4 (5)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	combined immunodeficiency due to STIM1 deficiency	1	1	STIM1 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	combined immunodeficiency due to STK4 deficiency	1	1	STK4 (5)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	combined immunodeficiency due to ZAP70 deficiency	1	1	ZAP70 (5)	0.02222	1.00000	2.858e-3	3.796e-3	
complex movement disorder with or without neurodevelopmental features	Dystonia	1	1	HPCA (4)	0.02222	1.00000	2.858e-3	3.796e-3	172
cone dystrophy 3	Macular dystrophy	1	1	GUCA1A (2)	0.02222	1.00000	2.858e-3	3.796e-3	
cone dystrophy 3	Usher syndrome	1	1	GUCA1A (2)	0.02222	1.00000	2.858e-3	3.796e-3	
cone-rod dystrophy 2	Macular dystrophy	1	1	CRX (2)	0.02222	1.00000	2.858e-3	3.796e-3	7
cone-rod dystrophy 2	Usher syndrome	1	1	CRX (2)	0.02222	1.00000	2.858e-3	3.796e-3	
cone-rod dystrophy and hearing loss 2	Usher syndrome	1	1	CEP250 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Ehlers-danlos syndrome	1	1	CYP21A2 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
autosomal dominant combined immunodeficiency due to ERBIN deficiency	Combined immunodeficiency disease	1	1	ERBIN (4)	0.02222	1.00000	2.858e-3	3.796e-3	10
Axonal neuropathy	Partial epilepsy	1	0	GBF1 (1)	0.02222	1.00000	2.858e-3	3.796e-3	
B3GALT6-congenital disorder of glycosylation	Ehlers-danlos syndrome	1	1	B3GALT6 (5)	0.02222	1.00000	2.858e-3	3.796e-3	
BBS1-related ciliopathy	Usher syndrome	1	1	BBS1 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
CERKL-related retinopathy	Macular dystrophy	1	1	CERKL (2)	0.02222	1.00000	2.858e-3	3.796e-3	7
Cervical dystonia	Dystonia	1	1	CIZ1 (3)	0.02222	1.00000	2.858e-3	3.796e-3	172
perrault syndrome 2	Usher syndrome	1	1	HARS2 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	1	1	ARPC1B (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Macular dystrophy	RDH12-related dominant retinopathy	1	1	RDH12 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Macular dystrophy	RDH12-related recessive retinopathy	1	1	RDH12 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	Usher syndrome	1	1	ATP6V1B1 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Macular dystrophy	retinitis pigmentosa 65	1	1	CDHR1 (2)	0.02222	1.00000	2.858e-3	3.796e-3	7
Macular dystrophy	RP2-related retinopathy	1	1	RP2 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Macular dystrophy	TTC8-related ciliopathy	1	1	TTC8 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Usher syndrome	Usher syndrome type 2D	1	1	WHRN (6)	0.02222	1.00000	2.858e-3	3.796e-3	
Usher syndrome	Usher syndrome type 3	1	1	CLRN1 (7)	0.02222	1.00000	2.858e-3	3.796e-3	
Dystonia	VPS11-related neurological disorder	1	1	VPS11 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
Usher syndrome	X-linked dominant chondrodysplasia chassaing-lacombe type	1	1	HDAC6 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
Dystonia	X-linked dystonia-parkinsonism	1	1	TAF1 (6)	0.02222	1.00000	2.858e-3	3.796e-3	172
Macular dystrophy	X-linked retinitis pigmentosa	1	0	RP2 (1)	0.02222	1.00000	2.858e-3	3.796e-3	
Salivary gland neoplasms	Zhu-tokita-takenouchi-kim syndrome	1	1	SON (6)	0.02222	1.00000	2.858e-3	3.796e-3	
Salivary gland neoplasms	zttk syndrome	1	1	SON (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	Intellectual developmental disorder speech dysmorphic t-cell	1	1	BCL11B (5)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	1	1	BCL11B (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	Interleukin 6 quantitative trait	1	1	IL6R (4)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	lymphoproliferative syndrome 1	1	1	ITK (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	lymphoproliferative syndrome 2	1	1	CD27 (3)	0.02222	1.00000	2.858e-3	3.796e-3	
macular corneal dystrophy	Macular dystrophy	1	1	CHST6 (4)	0.02222	1.00000	2.858e-3	3.796e-3	7
Combined immunodeficiency disease	severe combined immunodeficiency due to CARMIL2 deficiency	1	1	CARMIL2 (2)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	severe combined immunodeficiency due to CD70 deficiency	1	1	CD70 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	severe combined immunodeficiency due to CTPS1 deficiency	1	1	CTPS1 (2)	0.02222	1.00000	2.858e-3	3.796e-3	10
Ehlers-danlos syndrome	severe combined immunodeficiency due to DCLRE1C deficiency	1	1	DCLRE1C (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	severe combined immunodeficiency due to IKK2 deficiency	1	1	IKBKB (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	severe combined immunodeficiency due to LCK deficiency	1	1	LCK (2)	0.02222	1.00000	2.858e-3	3.796e-3	10
Salivary gland neoplasms	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies	1	1	SOX11 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Dystonia	Sterol carrier protein 2 deficiency	1	1	SCP2 (5)	0.02222	1.00000	2.858e-3	3.796e-3	
Dystonia	succinic semialdehyde dehydrogenase deficiency	1	1	ALDH5A1 (3)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	1	1	FOXN1 (3)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	TFRC-related combined immunodeficiency	1	1	TFRC (3)	0.02222	1.00000	2.858e-3	3.796e-3	
Macular dystrophy	TOPORS-related retinopathy	1	1	TOPORS (2)	0.02222	1.00000	2.858e-3	3.796e-3	
PDE6A-related retinopathy	Usher syndrome	1	1	PDE6A (2)	0.02222	1.00000	2.858e-3	3.796e-3	31
megalencephalic leukoencephalopathy with subcortical cysts 1	Salivary gland neoplasms	1	1	MLC1 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	Usher syndrome	1	1	KIF11 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Ehlers-danlos syndrome	ehlers-danlos syndrome, musculocontractural type 1	1	1	CHST14 (6)	0.02222	1.00000	2.858e-3	3.796e-3	
Ehlers-danlos syndrome	ehlers-danlos syndrome, musculocontractural type 2	1	1	DSE (5)	0.02222	1.00000	2.858e-3	3.796e-3	50
Ehlers-danlos syndrome	Ehlers-Danlos syndrome, spondylocheirodysplastic type	1	1	SLC39A13 (5)	0.02222	1.00000	2.858e-3	3.796e-3	
Ehlers-danlos syndrome	ehlers-danlos syndrome, spondylodysplastic type, 1	1	1	B4GALT7 (6)	0.02222	1.00000	2.858e-3	3.796e-3	
exostoses, multiple, type 1	Partial epilepsy	1	1	EXT1 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Fanconi anemia complementation group A	Salivary gland neoplasms	1	1	FANCA (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Dystonia	Focal dystonia	1	1	GNAL (6)	0.02222	1.00000	2.858e-3	3.796e-3	172
Combined immunodeficiency disease	hyper-IgE recurrent infection syndrome 5, autosomal recessive	1	1	IL6R (3)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	immunodeficiency 15a	1	1	IKBKB (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	immunodeficiency 53	1	1	RELB (2)	0.02222	1.00000	2.858e-3	3.796e-3	10
Combined immunodeficiency disease	immunodeficiency 76	1	1	FCHO1 (3)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	immunodeficiency 92	1	1	REL (2)	0.02222	1.00000	2.858e-3	3.796e-3	
IMPG1-related dominant retinopathy	Macular dystrophy	1	1	IMPG1 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
IMPG1-related recessive retinopathy	Macular dystrophy	1	1	IMPG1 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
IMPG2-related recessive retinopathy	Macular dystrophy	1	1	IMPG2 (3)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	Intellectual developmental disorder dysmorphic skeletal hair	1	1	BCL11B (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Intellectual developmental disorder microcephaly ocular	Salivary gland neoplasms	1	1	SOX11 (4)	0.02222	1.00000	2.858e-3	3.796e-3	
Combined immunodeficiency disease	HELIOS deficiency	1	1	IKZF2 (2)	0.02222	1.00000	2.858e-3	3.796e-3	
Intervertebral disc displacement	Peritoneal disease	1	1	COL11A1 (3)	0.07143	0.20000	2.919e-3	3.867e-3	
22q11.2 deletion syndrome	Myoclonic encephalopathy	1	1	JMJD1C (3)	0.07143	0.20000	2.919e-3	3.867e-3	
Epilepsy of infancy with migrating focal seizures	Myoclonic encephalopathy	1	1	SLC25A22 (3)	0.07143	0.20000	2.919e-3	3.867e-3	
Malignant migrating partial seizures of infancy	Myoclonic encephalopathy	1	1	SLC25A22 (2)	0.07143	0.20000	2.919e-3	3.867e-3	
Diabetic foot	Hepatic insufficiency	1	1	MAPK14 (2)	0.07143	0.20000	2.919e-3	3.867e-3	
Aneuploidy	Splenic disease	1	1	TLX1 (2)	0.07143	0.20000	2.919e-3	3.867e-3	
Asperger syndrome	Urinary bladder diseases	1	1	VIP (3)	0.07143	0.20000	2.919e-3	3.867e-3	
autosomal dominant nonsyndromic hearing loss	Intervertebral disc displacement	1	1	COL11A1 (3)	0.07143	0.20000	2.919e-3	3.867e-3	
Hemiparkinsonism	Secondary parkinson disease	1	1	SNCA (2)	0.05556	0.33333	2.920e-3	3.867e-3	395
Dyschromatosis symmetrica hereditaria	Rotator cuff tear	1	1	SASH1 (6)	0.05556	0.33333	2.920e-3	3.867e-3	378
Urethral disease	Urinary system disease	1	0	ERC1 (1)	0.05556	0.33333	2.920e-3	3.867e-3	
Hyperglycinuria	Macular telangiectasia	1	1	SLC6A20 (2)	0.05556	0.33333	2.920e-3	3.867e-3	
Hyperpituitarism	Orthostatic hypotension	1	1	ABCB1 (3)	0.05556	0.33333	2.920e-3	3.867e-3	120
Hypotonia-cystinuria syndrome	Mitochondrial myopathy	1	1	CAMKMT (3)	0.05556	0.33333	2.920e-3	3.867e-3	
Coloboma	Early onset vitamin b6 dependent epilepsy	1	1	ALDH7A1 (2)	0.05556	0.33333	2.920e-3	3.867e-3	
Congenital myopathy	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	1	1	MEGF10 (4)	0.02174	1.00000	2.922e-3	3.867e-3	
Bronchopulmonary dysplasia	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Factor x deficiency	Thrombosis	1	1	F10 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Bronchopulmonary dysplasia	familial isolated arrhythmogenic right ventricular dysplasia	1	1	DSC2 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
platelet-type bleeding disorder 8	Thrombosis	1	1	P2RY12 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
platelet-type von Willebrand disease	Thrombosis	1	1	GP1BA (2)	0.02174	1.00000	2.922e-3	3.867e-3	
protein S deficiency	Thrombosis	1	1	PROS1 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Pulmonary arterial hypertension	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	1	1	EIF2AK4 (4)	0.02174	1.00000	2.922e-3	3.867e-3	
Bronchopulmonary dysplasia	Genetic generalized epilepsy	1	0	TNK2 (1)	0.02174	1.00000	2.922e-3	3.867e-3	133
Bronchopulmonary dysplasia	neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan	1	1	DAG1 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital myopathy	MEGF10-related myopathy	1	1	MEGF10 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
MERTK-related retinopathy	Thrombosis	1	1	MERTK (2)	0.02174	1.00000	2.922e-3	3.867e-3	36
mucopolysaccharidosis type 7	Non-immune hydrops fetalis	1	1	GUSB (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital myopathy	muscular dystrophy-dystroglycanopathy	1	1	LARGE1 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital myopathy	myopathy, proximal, and ophthalmoplegia	1	1	MYH2 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital myopathy	Native american myopathy	1	1	STAC3 (4)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital myopathy	SELENON-related myopathy	1	1	SELENON (4)	0.02174	1.00000	2.922e-3	3.867e-3	
Non-immune hydrops fetalis	Sialidosis	1	1	NEU1 (5)	0.02174	1.00000	2.922e-3	3.867e-3	
Spontaneous coronary artery dissection	Thrombosis	1	1	F3 (2)	0.02174	1.00000	2.922e-3	3.867e-3	36
Non-immune hydrops fetalis	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2	1	1	MOCS3 (2)	0.02174	1.00000	2.922e-3	3.867e-3	49
Bronchopulmonary dysplasia	surfactant metabolism dysfunction, pulmonary, 1	1	1	SFTPB (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Pulmonary arterial hypertension	telangiectasia, hereditary hemorrhagic, type 2	1	1	ACVRL1 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Pulmonary arterial hypertension	telangiectasia, hereditary hemorrhagic, type 5	1	1	GDF2 (4)	0.02174	1.00000	2.922e-3	3.867e-3	
Thrombomodulin-related bleeding disorder	Thrombosis	1	1	THBD (5)	0.02174	1.00000	2.922e-3	3.867e-3	36
Hypertension and brachydactyly syndrome	Thrombosis	1	1	PDE3A (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital myopathy	Intellectual developmental disorder seizures behavioral	1	1	ALG14 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Bronchopulmonary dysplasia	interstitial lung disease 1	1	1	SFTPA1 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
leukemia, acute myeloid, susceptibility to	Thrombosis	1	1	FLT3 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
lymphatic malformation 1	Non-immune hydrops fetalis	1	1	FLT4 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Pulmonary arterial hypertension	vitamin K-dependent clotting factors, combined deficiency of, type 1	1	1	GGCX (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Bailey-Bloch congenital myopathy	Congenital myopathy	1	1	STAC3 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Desmosterolosis	Non-immune hydrops fetalis	1	1	DHCR24 (7)	0.02174	1.00000	2.922e-3	3.867e-3	49
Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy	Non-immune hydrops fetalis	1	1	CTSA (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Congenital myopathy	1	1	MYH2 (4)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital factor x deficiency	Thrombosis	1	1	F10 (4)	0.02174	1.00000	2.922e-3	3.867e-3	
congenital heart defects, multiple types, 7	Non-immune hydrops fetalis	1	1	FLT4 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital hypoplasia of penis	Pulmonary arterial hypertension	1	0	PHF6 (1)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital lethal myopathy 	Congenital myopathy	1	1	CNTN1 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital malrotation of intestine	Non-immune hydrops fetalis	1	0	GALNT14 (1)	0.02174	1.00000	2.922e-3	3.867e-3	49
Congenital myopathy	congenital myopathy with myasthenic-like onset	1	1	PAX7 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Bronchopulmonary dysplasia	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	1	0	ITGA3 (1)	0.02174	1.00000	2.922e-3	3.867e-3	
Bronchopulmonary dysplasia	Congenital phimosis	1	0	ITGA3 (1)	0.02174	1.00000	2.922e-3	3.867e-3	
Congenital sialidosis	Non-immune hydrops fetalis	1	1	NEU1 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
ACTN2-related cardiac and skeletal myopathy	Congenital myopathy	1	1	ACTN2 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Body skin hyperlaxity	Pulmonary arterial hypertension	1	1	GGCX (6)	0.02174	1.00000	2.922e-3	3.867e-3	
Borjeson-forssman-lehmann syndrome	Pulmonary arterial hypertension	1	1	PHF6 (7)	0.02174	1.00000	2.922e-3	3.867e-3	
Brachydactyly with hypertension	Thrombosis	1	1	PDE3A (4)	0.02174	1.00000	2.922e-3	3.867e-3	
Cardiac and skeletal myopathy	Congenital myopathy	1	1	ACTN2 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
ciliary dyskinesia, primary, 40	Non-immune hydrops fetalis	1	1	DNAH9 (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Combined deficiency of sialidase and beta galactosidase	Non-immune hydrops fetalis	1	1	CTSA (2)	0.02174	1.00000	2.922e-3	3.867e-3	
Compton-north congenital myopathy	Congenital myopathy	1	1	CNTN1 (3)	0.02174	1.00000	2.922e-3	3.867e-3	
Brachydactyly-elbow wrist dysplasia syndrome	Congenital clubfoot	1	1	PITX1 (2)	0.04000	0.50000	2.985e-3	3.939e-3	
Corneal endothelial dystrophy	Fuchs endothelial dystrophy	1	1	SLC4A11 (5)	0.04000	0.50000	2.985e-3	3.939e-3	87
Microscopic colitis	Nasal disorder	1	0	CLEC16A (1)	0.04000	0.50000	2.985e-3	3.939e-3	
Dysautonomia	Systemic mastocytosis	1	1	TPSAB1 (3)	0.04000	0.50000	2.985e-3	3.939e-3	
Dyschromatopsia	Systemic mastocytosis	1	1	EYS (2)	0.04000	0.50000	2.985e-3	3.939e-3	
Anti-neutrophil antibody associated vasculitis	Factor viii deficiency	1	1	F8 (3)	0.04000	0.50000	2.985e-3	3.939e-3	
Diffuse cutaneous systemic sclerosis	Fetal erythroblastosis	1	0	FCGR2A (1)	0.04000	0.50000	2.985e-3	3.939e-3	
Congenital impairment of spermatozoa motility	Male infertility teratozoospermia	1	0	CFAP251 (1)	0.04000	0.50000	2.985e-3	3.939e-3	11
Bullous pemphigoid	Syndactyly of the toes	1	1	DHCR7 (2)	0.04000	0.50000	2.985e-3	3.939e-3	
immunodeficiency 104	Nasal disorder	1	1	IL7R (2)	0.04000	0.50000	2.985e-3	3.939e-3	103
Intellectual developmental disorder dysmorphic microcephaly	Skeletal dysplasia	1	1	COPB1 (2)	0.04000	0.50000	2.985e-3	3.939e-3	
hyper-ige syndrome 6, autosomal dominant, with recurrent infections	Urticaria	1	1	STAT6 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Hypercholesterolemia	hypercholesterolemia, autosomal dominant, 3	1	1	PCSK9 (6)	0.02128	1.00000	2.987e-3	3.939e-3	
Hypercholesterolemia	hypercholesterolemia, familial, 4	1	1	LDLRAP1 (5)	0.02128	1.00000	2.987e-3	3.939e-3	57
Immune system disease	immunodeficiency 25	1	1	CD247 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
immunodeficiency-centromeric instability-facial anomalies syndrome 1	Myelodysplastic syndrome	1	1	DNMT3B (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	mosaic variegated aneuploidy syndrome 1	1	1	BUB1B (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Immune system disease	TRPM1-related retinopathy	1	1	TRPM1 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Calcinosis	tumoral calcinosis, hyperphosphatemic, familial, 1	1	1	GALNT3 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Myelodysplastic syndrome	Upper extremity deformity, congenital	1	1	EZH2 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	ventriculomegaly and arthrogryposis	1	1	KIDINS220 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	Ventriculomegaly with arthrogryposis	1	1	KIDINS220 (4)	0.02128	1.00000	2.987e-3	3.939e-3	
Calcinosis	Vitamin k deficiency	1	1	BGLAP (2)	0.02128	1.00000	2.987e-3	3.939e-3	391
Myelodysplastic syndrome	Xq25 microduplication syndrome	1	1	STAG2 (4)	0.02128	1.00000	2.987e-3	3.939e-3	
Retinal detachment	Yuksel-vogel-bauer syndrome	1	1	DLG5 (4)	0.02128	1.00000	2.987e-3	3.939e-3	
glycogen storage disease II	Ventricular dysfunction	1	1	GAA (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Glycoprotein storage disease	Ventricular dysfunction	1	1	GAA (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Calcinosis	Hereditary arterial and articular multiple calcification syndrome	1	1	NT5E (6)	0.02128	1.00000	2.987e-3	3.939e-3	391
primary ciliary dyskinesia 23	Retinal detachment	1	1	ODAD2 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
pseudohyperaldosteronism type 2	Ventricular dysfunction	1	1	NR3C2 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Pseudohypoaldosteronism	Ventricular dysfunction	1	1	NR3C2 (4)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	pseudohypoaldosteronism type 2D	1	1	KLHL3 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Immune system disease	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	1	1	EIF2AK4 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
RDH5-related retinopathy	Retinal detachment	1	1	RDH5 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	RNASEH2B-related type 1 interferonopathy	1	1	RNASEH2B (2)	0.02128	1.00000	2.987e-3	3.939e-3	
neutral lipid storage myopathy	Ventricular dysfunction	1	1	PNPLA2 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	obsolete early infantile epileptic encephalopathy	1	1	GAD1 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	spastic paraplegia, intellectual disability, nystagmus, and obesity	1	1	KIDINS220 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Immune system disease	temtamy preaxial brachydactyly syndrome	1	1	CHSY1 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Early-onset hypertension with severe exacerbation in pregnancy	Ventricular dysfunction	1	1	NR3C2 (3)	0.02128	1.00000	2.987e-3	3.939e-3	
Cerebral palsy	Ectopic thyroid tissue	1	1	FBXO31 (2)	0.02128	1.00000	2.987e-3	3.939e-3	33
intrinsic cardiomyopathy	Ventricular dysfunction	1	1	PLN (2)	0.02128	1.00000	2.987e-3	3.939e-3	
ITPKB deficiency	Urticaria	1	1	ITPKB (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Cranioosteoarthropathy	Thyroid neoplasms	1	1	HPGD (4)	0.02128	1.00000	2.987e-3	3.939e-3	
Chromosome 5q deletion syndrome	Myelodysplastic syndrome	1	1	RPS14 (4)	0.02128	1.00000	2.987e-3	3.939e-3	
Chromosome xq25 duplication syndrome	Myelodysplastic syndrome	1	1	STAG2 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Apolipoprotein a-ii amyloidosis	Hypercholesterolemia	1	1	APOA2 (4)	0.02128	1.00000	2.987e-3	3.939e-3	
Apolipoprotein a-ii deficiency	Hypercholesterolemia	1	1	APOA2 (3)	0.02128	1.00000	2.987e-3	3.939e-3	
Apolipoprotein c-iii deficiency	Hypercholesterolemia	1	1	APOC3 (4)	0.02128	1.00000	2.987e-3	3.939e-3	
autosomal dominant pseudohypoaldosteronism type 1	Ventricular dysfunction	1	1	NR3C2 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Digital clubbing, isolated congenital	Thyroid neoplasms	1	1	HPGD (2)	0.02128	1.00000	2.987e-3	3.939e-3	
bile acid CoA:amino acid N-acyltransferase deficiency	Hypercholesterolemia	1	1	BAAT (4)	0.02128	1.00000	2.987e-3	3.939e-3	
Bile acid conjugation defect	Hypercholesterolemia	1	1	BAAT (6)	0.02128	1.00000	2.987e-3	3.939e-3	
combined immunodeficiency due to STIM1 deficiency	Urticaria	1	1	STIM1 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Abetalipoproteinemia	Hypercholesterolemia	1	1	MTTP (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Acrokeratosis verruciformis	Ventricular dysfunction	1	1	ATP2A2 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
Amr syndrome	Calcinosis	1	0	AHSG (1)	0.02128	1.00000	2.987e-3	3.939e-3	
anterior segment dysgenesis 8	Retinal detachment	1	1	CPAMD8 (2)	0.02128	1.00000	2.987e-3	3.939e-3	
1p21.3 microdeletion syndrome	Head and neck neoplasms	1	1	DPYD (3)	0.02083	1.00000	3.052e-3	4.015e-3	
Acrocapitofemoral dysplasia	Gastrointestinal stromal tumor	1	1	IHH (2)	0.02083	1.00000	3.052e-3	4.015e-3	
acute myeloid leukemia	Head and neck neoplasms	1	1	CEBPA (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Alveolar capillary dysplasia	Gastrointestinal stromal tumor	1	1	FOXF1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
ASAH1-related sphingolipidosis	Rolandic epilepsy	1	1	ASAH1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Congenital insufficiency of mitral valve	Mitral valve prolapse	1	1	LMCD1 (3)	0.02083	1.00000	3.052e-3	4.015e-3	
congenital myasthenic syndrome 7	Mitral valve prolapse	1	1	SYT2 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Cortical dysplasia-focal epilepsy syndrome	Rolandic epilepsy	1	1	CNTNAP2 (4)	0.02083	1.00000	3.052e-3	4.015e-3	
Chondrodysplasia-difference of sex development syndrome	Gastrointestinal stromal tumor	1	1	HHAT (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Chondrodysplasia-pseudohypohermaphroditism syndrome	Gastrointestinal stromal tumor	1	1	HHAT (3)	0.02083	1.00000	3.052e-3	4.015e-3	
ciliary dyskinesia, primary, 46	Gastrointestinal stromal tumor	1	1	STK36 (2)	0.02083	1.00000	3.052e-3	4.015e-3	110
Congenital alveolar capillary dysplasia	Gastrointestinal stromal tumor	1	1	FOXF1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
congenital disorder of deglycosylation 2	Hypogonadotropic hypogonadism	1	1	MAN2C1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
developmental delay, impaired speech, and behavioral abnormalities	Mitral valve prolapse	1	1	SPTBN1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Dihydropyrimidine dehydrogenase deficiency	Head and neck neoplasms	1	1	DPYD (6)	0.02083	1.00000	3.052e-3	4.015e-3	
bone marrow failure syndrome 6	Neoplasms	1	1	MDM4 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Hypogonadotropic hypogonadism	Isolated follicle-stimulating hormone deficiency	1	1	FSHB (5)	0.02083	1.00000	3.052e-3	4.015e-3	
male infertility due to globozoospermia	Rolandic epilepsy	1	1	DPY19L2 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Hypogonadotropic hypogonadism	POLR3B-related disorder	1	1	POLR3B (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Gastrointestinal stromal tumor	RAB23-related Carpenter syndrome	1	1	RAB23 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Head and neck neoplasms	UROD-related inherited porphyria	1	1	UROD (2)	0.02083	1.00000	3.052e-3	4.015e-3	
holt-oram syndrome	Mitral valve prolapse	1	1	TBX5 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Head and neck neoplasms	hyper-ige syndrome 6, autosomal dominant, with recurrent infections	1	1	STAT6 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Head and neck neoplasms	hypercholesterolemia, familial, 4	1	1	LDLRAP1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Gastrointestinal stromal tumor	immunodeficiency 18	1	1	CD3E (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Hypogonadotropic hypogonadism	Intellectual developmental disorder microcephaly ocular	1	1	SOX11 (4)	0.02083	1.00000	3.052e-3	4.015e-3	
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Neoplasms	1	1	CCND2 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Myoclonus-renal failure syndrome	Rolandic epilepsy	1	1	SCARB2 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
myoglobinuria, acute recurrent, autosomal recessive	Neoplasms	1	1	LPIN1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Gastrointestinal stromal tumor	nephronophthisis 7	1	1	GLIS2 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Head and neck neoplasms	Hepatoerythropoietic porphyria	1	1	UROD (4)	0.02083	1.00000	3.052e-3	4.015e-3	
hereditary mixed polyposis syndrome	Neoplasms	1	1	GREM1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	21
Duplication of pituitary gland	Gastrointestinal stromal tumor	1	1	PTCH2 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Farber disease	Rolandic epilepsy	1	1	ASAH1 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Female restricted epilepsy with intellectual disability	Rolandic epilepsy	1	1	PCDH19 (2)	0.02083	1.00000	3.052e-3	4.015e-3	228
Gastrointestinal stromal tumor	orofaciodigital syndrome type 14	1	1	C2CD3 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Rolandic epilepsy	self-limited familial neonatal epilepsy	1	1	KCNQ3 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Hypogonadotropic hypogonadism	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies	1	1	SOX11 (2)	0.02083	1.00000	3.052e-3	4.015e-3	
Cervical intraepithelial neoplasia	Spermatocele	1	0	PAX8 (1)	0.07143	0.16667	3.114e-3	4.088e-3	
Congenital thyroid atrophy	Spermatocele	1	1	PAX8 (2)	0.07143	0.16667	3.114e-3	4.088e-3	102
Congenital hypothyroidism without goiter	Spermatocele	1	1	PAX8 (2)	0.07143	0.16667	3.114e-3	4.088e-3	102
Ovarian mucinous adenocarcinoma	Spermatocele	1	0	PAX8 (1)	0.07143	0.16667	3.114e-3	4.088e-3	
Mulibrey nanism	Stomach disease	1	1	TRPM3 (2)	0.06250	0.25000	3.114e-3	4.088e-3	122
Autoimmune musculoskeletal system disorder	muscular dystrophy, limb-girdle, autosomal dominant	1	1	TNPO3 (2)	0.06250	0.25000	3.114e-3	4.088e-3	
muscular dystrophy, limb-girdle, autosomal dominant	Myofibrillar myopathy	1	1	DNAJB6 (2)	0.06250	0.25000	3.114e-3	4.088e-3	
Trichohepatoenteric syndrome	Urinary system neoplasms	1	1	SKIC3 (7)	0.06250	0.25000	3.114e-3	4.088e-3	
Paralysis	Wallerian degeneration	1	0	SIRT1 (1)	0.06250	0.25000	3.114e-3	4.088e-3	
Cachexia	Hyperemesis gravidarum	1	1	GDF15 (3)	0.06250	0.25000	3.114e-3	4.088e-3	
Duane retraction syndrome	Parathyroid disease	1	1	MAFB (7)	0.06250	0.25000	3.114e-3	4.088e-3	
Endocrine neoplasms	Eye neoplasms	1	1	KDR (2)	0.06250	0.25000	3.114e-3	4.088e-3	
Corneal disease	Corneal edema	1	0	TCF4 (1)	0.06250	0.25000	3.114e-3	4.088e-3	283
Corneal edema	Paranoia	1	1	TCF4 (2)	0.06250	0.25000	3.114e-3	4.088e-3	283
Chromosome 2q37 deletion syndrome	Diabetes complications	1	1	HDAC4 (4)	0.06250	0.25000	3.114e-3	4.088e-3	
Congenital chloride diarrhea	Intestinal obstruction	1	1	SLC26A3 (3)	0.06250	0.25000	3.114e-3	4.088e-3	
Advanced sleep phase syndrome	Seasonal affective disorder	1	1	PER3 (2)	0.05263	0.33333	3.114e-3	4.088e-3	
Developmental disorder	Wheat allergic reaction	1	0	RBFOX1 (1)	0.05263	0.33333	3.114e-3	4.088e-3	
Lymphedema	Malignant glioma	1	0	PAX7 (1)	0.05263	0.33333	3.114e-3	4.088e-3	
Mitochondrial encephalomyopathy	Mitochondrial encephalopathy	1	1	FOXRED1 (2)	0.05263	0.33333	3.114e-3	4.088e-3	
Lafora disease	Progressive myoclonic epilepsy	1	1	NHLRC1 (4)	0.03846	0.50000	3.115e-3	4.088e-3	339
Vulto-van silfhout-de vries syndrome	Williams syndrome	1	1	DLG4 (2)	0.03846	0.50000	3.115e-3	4.088e-3	
Periventricular leukomalacia	Uterine polyp	1	1	PLEKHG1 (2)	0.03846	0.50000	3.115e-3	4.088e-3	138
Peroxisome biogenesis disorder	Refsum disease	1	1	PEX7 (6)	0.03846	0.50000	3.115e-3	4.088e-3	
Ovarian hyperstimulation syndrome	Transient ischemic attack	1	0	SERPINF1 (1)	0.03846	0.50000	3.115e-3	4.088e-3	
Blood coagulation disorder	Peeling skin syndrome with leukonychia and acral punctate keratoses	1	1	CAST (7)	0.03846	0.50000	3.115e-3	4.088e-3	
Hyperaldosteronism	Intellectual developmental disorder seizures extrapyramidal	1	1	SATB1 (2)	0.03846	0.50000	3.115e-3	4.088e-3	
Angiocentric glioma	Deficiency anemia	1	1	MYB (2)	0.03846	0.50000	3.115e-3	4.088e-3	
Cardiac, facial, and digital anomalies with developmental delay	Uranostaphyloschisis	1	1	MEIS2 (3)	0.03846	0.50000	3.115e-3	4.088e-3	
Central nervous system malformation	Progressive myoclonic epilepsy	1	1	LMNB2 (5)	0.03846	0.50000	3.115e-3	4.088e-3	
ALG9-associated autosomal dominant polycystic kidney disease	Polycystic kidney disease	1	1	ALG9 (6)	0.02041	1.00000	3.117e-3	4.088e-3	97
Intellectual developmental disorder dysmorphic hypotonia	Neural tube defect	1	1	KMT5B (2)	0.02041	1.00000	3.117e-3	4.088e-3	
Genetic predisposition to disease	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	1	1	MYO18B (2)	0.02041	1.00000	3.117e-3	4.088e-3	
Diabetic eye disease	lissencephaly spectrum disorder with complex brainstem malformation	1	1	MACF1 (2)	0.02041	1.00000	3.117e-3	4.088e-3	
Diabetic eye disease	Male infertility motility disorder	1	1	CCDC146 (2)	0.02041	1.00000	3.117e-3	4.088e-3	
Polycystic kidney disease	spermatogenic failure, x-linked, 3	1	1	CFAP47 (3)	0.02041	1.00000	3.117e-3	4.088e-3	
Diabetic eye disease	Thiopurine immunosuppressant-induced pancreatitis	1	0	HLA-DQB3 (1)	0.02041	1.00000	3.117e-3	4.088e-3	
Polycystic kidney disease	thrombocytopenia 6	1	1	SRC (3)	0.02041	1.00000	3.117e-3	4.088e-3	
MKKS-related ciliopathy	Polycystic kidney disease	1	1	MKKS (2)	0.02041	1.00000	3.117e-3	4.088e-3	
nephronophthisis 16	Polycystic kidney disease	1	1	ANKS6 (3)	0.02041	1.00000	3.117e-3	4.088e-3	
Neural tube defect	neurodegenerative syndrome due to cerebral folate transport deficiency	1	1	FOLR1 (3)	0.02041	1.00000	3.117e-3	4.088e-3	
Endometrioid carcinoma	Genetic predisposition to disease	1	0	MSLN (1)	0.02041	1.00000	3.117e-3	4.088e-3	
frontorhiny	Neural tube defect	1	1	ALX3 (3)	0.02041	1.00000	3.117e-3	4.088e-3	
GRHL3-related orofacial clefting	Neural tube defect	1	1	GRHL3 (3)	0.02041	1.00000	3.117e-3	4.088e-3	
Diabetic eye disease	hereditary spherocytosis	1	1	ANK1 (2)	0.02041	1.00000	3.117e-3	4.088e-3	
Polycystic kidney disease	polycystic kidney disease 3 with or without polycystic liver disease	1	1	GANAB (7)	0.02041	1.00000	3.117e-3	4.088e-3	97
Polycystic kidney disease	polycystic liver disease 1	1	1	PRKCSH (3)	0.02041	1.00000	3.117e-3	4.088e-3	97
Polycystic kidney disease	polycystic liver disease 2	1	1	SEC63 (3)	0.02041	1.00000	3.117e-3	4.088e-3	97
Polycystic kidney disease	renal dysplasia, cystic, susceptibility to	1	1	BICC1 (2)	0.02041	1.00000	3.117e-3	4.088e-3	
Genetic predisposition to disease	renal hypomagnesemia 4	1	1	EGF (2)	0.02041	1.00000	3.117e-3	4.088e-3	
Polycystic kidney disease	renal-hepatic-pancreatic dysplasia 2	1	1	NEK8 (7)	0.02041	1.00000	3.117e-3	4.088e-3	
Hypomaturation amelogenesis imperfecta	Skin hair eye pigmentation variation	1	1	SLC24A4 (2)	0.07143	0.14286	3.179e-3	4.160e-3	
Differentiated thyroid carcinoma	Hip dislocation-facial dysmorphism syndrome	1	1	TRIM33 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Differentiated thyroid carcinoma	Hurthle cell thyroid cancer	1	1	NDUFA13 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Edema	hyper-ige syndrome 6, autosomal dominant, with recurrent infections	1	1	STAT6 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
immunodeficiency 97 with autoinflammation	Medulloblastoma	1	1	PIK3CG (2)	0.02000	1.00000	3.182e-3	4.160e-3	37
Lynch syndrome	RAD51D-related cancer predisposition	1	1	RAD51D (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Medulloblastoma	Riley-day syndrome	1	1	ELP1 (5)	0.02000	1.00000	3.182e-3	4.160e-3	
Differentiated thyroid carcinoma	neuroblastoma, susceptibility to, 3	1	1	ALK (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Bone fragility with contractures, arterial rupture, and deafness	X-linked osteoporosis	1	1	PLS3 (4)	0.02000	1.00000	3.182e-3	4.160e-3	
Sleep apnea	Xia-gibbs syndrome	1	1	AHDC1 (3)	0.02000	1.00000	3.182e-3	4.160e-3	
intellectual developmental disorder, autosomal dominant 65	Medulloblastoma	1	1	KDM4B (2)	0.02000	1.00000	3.182e-3	4.160e-3	37
karyomegalic interstitial nephritis	Lynch syndrome	1	1	FAN1 (3)	0.02000	1.00000	3.182e-3	4.160e-3	
Edema	lichtenstein-knorr syndrome	1	1	SLC9A1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
lissencephaly spectrum disorder with complex brainstem malformation	Sleep apnea	1	1	MACF1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Bone fragility with contractures, arterial rupture, and deafness	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	1	1	SLC10A7 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Osteoporosis-pseudoglioma syndrome	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	1	1	SLC10A7 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Hypertrophy	spondylometaphyseal dysplasia, 'corner fracture' type	1	1	FN1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Lynch syndrome	thrombocytopenia 10	1	1	PTPRJ (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Bone fragility with contractures, arterial rupture, and deafness	geroderma osteodysplastica	1	1	GORAB (2)	0.02000	1.00000	3.182e-3	4.160e-3	
geroderma osteodysplastica	Osteoporosis-pseudoglioma syndrome	1	1	GORAB (2)	0.02000	1.00000	3.182e-3	4.160e-3	
glomerulopathy with fibronectin deposits 2	Hypertrophy	1	1	FN1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Glucocorticoid receptor deficiency/resistance	Ocular hypertension	1	1	NR3C1 (5)	0.02000	1.00000	3.182e-3	4.160e-3	
glycogen storage disease II	Hypertrophy	1	1	GAA (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Glycoprotein storage disease	Hypertrophy	1	1	GAA (2)	0.02000	1.00000	3.182e-3	4.160e-3	
GPR161-related medulloblastoma predisposition	Medulloblastoma	1	1	GPR161 (3)	0.02000	1.00000	3.182e-3	4.160e-3	
Differentiated thyroid carcinoma	hereditary sensory and autonomic neuropathy type 4	1	1	NTRK1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	Ocular hypertension	1	1	VARS1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Hypertrophy	neutral lipid storage myopathy	1	1	PNPLA2 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Bone fragility with contractures, arterial rupture, and deafness	ehlers-danlos syndrome, spondylodysplastic type, 1	1	1	B4GALT7 (2)	0.02000	1.00000	3.182e-3	4.160e-3	127
ehlers-danlos syndrome, spondylodysplastic type, 1	Osteoporosis-pseudoglioma syndrome	1	1	B4GALT7 (2)	0.02000	1.00000	3.182e-3	4.160e-3	127
familial adenomatous polyposis 2	Lynch syndrome	1	1	MUTYH (2)	0.02000	1.00000	3.182e-3	4.160e-3	
familial adenomatous polyposis 4	Lynch syndrome	1	1	MSH3 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
frank-ter haar syndrome	Ocular hypertension	1	1	SH3PXD2B (2)	0.02000	1.00000	3.182e-3	4.160e-3	
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	Sleep apnea	1	1	AHDC1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Colorectal adenomatous polyposis	Lynch syndrome	1	1	MUTYH (2)	0.02000	1.00000	3.182e-3	4.160e-3	
colorectal cancer, hereditary nonpolyposis, type 7	Lynch syndrome	1	1	MLH3 (6)	0.02000	1.00000	3.182e-3	4.160e-3	
Congenital absence of breast with absent nipple	Hypertrophy	1	1	PTPRF (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Breast/nipple aplasia or hypoplasia	Hypertrophy	1	1	PTPRF (5)	0.02000	1.00000	3.182e-3	4.160e-3	
Bone fragility with contractures, arterial rupture, and deafness	Calvarial doughnut lesions with bone fragility	1	1	SGMS2 (4)	0.02000	1.00000	3.182e-3	4.160e-3	
Calvarial doughnut lesions with bone fragility	Osteoporosis-pseudoglioma syndrome	1	1	SGMS2 (4)	0.02000	1.00000	3.182e-3	4.160e-3	
Arboleda-tham syndrome	Medulloblastoma	1	1	KAT6A (2)	0.02000	1.00000	3.182e-3	4.160e-3	
arterial tortuosity-bone fragility syndrome	Bone fragility with contractures, arterial rupture, and deafness	1	1	EMILIN1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
arterial tortuosity-bone fragility syndrome	Osteoporosis-pseudoglioma syndrome	1	1	EMILIN1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Hypertrophy	1	1	PPP3CA (4)	0.02000	1.00000	3.182e-3	4.160e-3	
B3GALT6-congenital disorder of glycosylation	Bone fragility with contractures, arterial rupture, and deafness	1	1	B3GALT6 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
bamforth-lazarus syndrome	Differentiated thyroid carcinoma	1	1	FOXE1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Cerebellar ataxia with hearing loss	Edema	1	1	SLC9A1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Chondromyxoid fibroma	Differentiated thyroid carcinoma	1	1	GRM1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Chromosome 12p deletion syndrome	Differentiated thyroid carcinoma	1	1	ERC1 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
DDOST-congenital disorder of glycosylation	Ocular hypertension	1	1	DDOST (2)	0.02000	1.00000	3.182e-3	4.160e-3	296
Bone fragility with contractures, arterial rupture, and deafness	Doughnut lesion of calvaria and bone fragility syndrome	1	1	SGMS2 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Doughnut lesion of calvaria and bone fragility syndrome	Osteoporosis-pseudoglioma syndrome	1	1	SGMS2 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Congenital posterior urethral valves	Sleep apnea	1	1	BNC2 (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Congenital tufting enteropathy	Lynch syndrome	1	1	EPCAM (8)	0.02000	1.00000	3.182e-3	4.160e-3	
Corpus callosum agenesis with facial anomalies and robin sequence	Medulloblastoma	1	1	DDX3X (2)	0.02000	1.00000	3.182e-3	4.160e-3	
Lymphoblastic leukemia	Skeletal dysplasia	2	2	TP63 (2), CSGALNACT1 (4)	0.02532	0.08696	3.240e-3	4.236e-3	
Septo-optic dysplasia	Upper extremity fracture	1	1	ARID1A (2)	0.06667	0.20000	3.243e-3	4.237e-3	
Polymicrogyria	Skraban-deardorff syndrome	1	0	WDR62 (1)	0.03704	0.50000	3.245e-3	4.237e-3	
Conjunctival disease	Gallbladder neoplasms	1	1	DAPK1 (3)	0.03704	0.50000	3.245e-3	4.237e-3	312
Cone-rod synaptic disorder	Night blindness, congenital stationary	1	1	CABP4 (4)	0.03704	0.50000	3.245e-3	4.237e-3	
congenital myasthenic syndrome 12	Small vessel stroke	1	1	GFPT1 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
acute myeloid leukemia	Promyelocytic leukemia	1	1	CEBPA (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Agnathia-otocephaly	Cardiac embolism	1	0	PRRX1 (1)	0.01961	1.00000	3.247e-3	4.237e-3	
CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy	Small vessel stroke	1	1	CAMK2D (2)	0.01961	1.00000	3.247e-3	4.237e-3	
dilated cardiomyopathy 1J	Hereditary hearing loss	1	1	EYA4 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Arthrogryposis with ectodermal dysplasia	Hereditary hearing loss	1	1	OTOF (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome	Promyelocytic leukemia	1	1	CEBPE (3)	0.01961	1.00000	3.247e-3	4.237e-3	
autosomal recessive nonsyndromic hearing loss 63	Hereditary hearing loss	1	1	LRTOMT (2)	0.01961	1.00000	3.247e-3	4.237e-3	31
baraitser-winter syndrome 2	Hereditary hearing loss	1	1	ACTG1 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Hereditary hearing loss	Sensorineural deafness with dilated cardiomyopathy	1	1	EYA4 (3)	0.01961	1.00000	3.247e-3	4.237e-3	
Small vessel stroke	spinocerebellar ataxia, autosomal recessive 31	1	1	ATG7 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Promyelocytic leukemia	Spontaneous coronary artery dissection	1	1	F3 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
leukemia, acute myeloid, susceptibility to	Promyelocytic leukemia	1	1	FLT3 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Lissencephaly	lissencephaly 10	1	1	CEP85L (5)	0.01961	1.00000	3.247e-3	4.237e-3	
Lissencephaly	lissencephaly spectrum disorder with complex brainstem malformation	1	1	MACF1 (5)	0.01961	1.00000	3.247e-3	4.237e-3	
immunodeficiency, common variable, 14	Promyelocytic leukemia	1	1	IRF2BP2 (2)	0.01961	1.00000	3.247e-3	4.237e-3	89
Cardiac embolism	Retrognathia	1	1	PRRX1 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Cardiac embolism	Dysgnathia complex	1	1	PRRX1 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
FOXG1 disorder	Lissencephaly	1	1	FOXG1 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Hereditary hearing loss	Usher syndrome type 2D	1	1	WHRN (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Neurodevelopmental disorder with dilated cardiomyopathy	Small vessel stroke	1	0	CAMK2D (1)	0.01961	1.00000	3.247e-3	4.237e-3	
Hereditary hearing loss	Peripheral neuropathy myopathy hoarseness hearing loss syndrome	1	1	MYH14 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Hereditary hearing loss	Peripheral neuropathy, myopathy, hoarseness, and hearing	1	1	MYH14 (4)	0.01961	1.00000	3.247e-3	4.237e-3	
gapo syndrome	Small vessel stroke	1	1	ANTXR1 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Growth retardation, alopecia, pseudoanodontia and optic atrophy	Small vessel stroke	1	1	ANTXR1 (3)	0.01961	1.00000	3.247e-3	4.237e-3	
Hearing loss with hypertrophic cardiomyopathy	Hereditary hearing loss	1	1	MYO6 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Cardiac embolism	hereditary spherocytosis	1	1	ANK1 (2)	0.01961	1.00000	3.247e-3	4.237e-3	
Advanced sleep phase syndrome	Substance abuse	2	2	PER2 (4), PER3 (3)	0.00386	0.66667	3.288e-3	4.290e-3	
15q11.2 microdeletion syndrome	Cortical dysplasia with other brain malformations	1	1	TUBG1 (4)	0.05000	0.33333	3.309e-3	4.303e-3	144
Bladder disease	Male reproductive organ cancer	1	0	ZNF385B (1)	0.05000	0.33333	3.309e-3	4.303e-3	
Bronchiectasis	MHC class I deficiency	1	1	TAP1 (2)	0.05000	0.33333	3.309e-3	4.303e-3	
Gaucher disease	Intellectual developmental disorder dysmorphic behavioral	1	0	MSH6 (1)	0.05000	0.33333	3.309e-3	4.303e-3	
Aneurysm	Ocular hypertension	2	2	CDKN1A (2), MMP1 (2)	0.02667	0.07407	3.310e-3	4.303e-3	
Muscular dystrophy	neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan	1	1	DAG1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Narcolepsy	Papillon-lefevre syndrome	1	1	CTSC (7)	0.01923	1.00000	3.312e-3	4.303e-3	
Multiple intestinal atresia	Severe combined immunodeficiency	1	1	TTC7A (3)	0.01923	1.00000	3.312e-3	4.303e-3	
Multisystem disorder	Muscular dystrophy	1	1	TOR1AIP1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Muscular dystrophy	myopathy caused by variation in FKTN	1	1	FKTN (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Muscular dystrophy	myopathy, proximal, and ophthalmoplegia	1	1	MYH2 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Memory disorders	Nasu-hakola disease	1	1	TYROBP (2)	0.01923	1.00000	3.312e-3	4.303e-3	
purine nucleoside phosphorylase deficiency	Severe combined immunodeficiency	1	1	PNP (2)	0.01923	1.00000	3.312e-3	4.303e-3	10
reticular dysgenesis	Severe combined immunodeficiency	1	1	AK2 (3)	0.01923	1.00000	3.312e-3	4.303e-3	10
Otosclerosis	Retrognathia	1	1	PRRX1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	381
Otosclerosis	Rothmund-Thomson syndrome type 1	1	1	ANAPC1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Mak-related retinopathy	Otosclerosis	1	1	MAK (3)	0.01923	1.00000	3.312e-3	4.303e-3	381
Muscular dystrophy	Sarcotubular myopathy	1	1	TRIM32 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	severe combined immunodeficiency due to CARMIL2 deficiency	1	1	CARMIL2 (2)	0.01923	1.00000	3.312e-3	4.303e-3	10
Severe combined immunodeficiency	severe combined immunodeficiency due to CD70 deficiency	1	1	CD70 (3)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	severe combined immunodeficiency due to CORO1A deficiency	1	1	CORO1A (5)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	severe combined immunodeficiency due to CTPS1 deficiency	1	1	CTPS1 (4)	0.01923	1.00000	3.312e-3	4.303e-3	10
Severe combined immunodeficiency	severe combined immunodeficiency due to DCLRE1C deficiency	1	1	DCLRE1C (7)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	severe combined immunodeficiency due to DNA-PKcs deficiency	1	1	PRKDC (5)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	severe combined immunodeficiency due to IKK2 deficiency	1	1	IKBKB (4)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	severe combined immunodeficiency due to LAT deficiency	1	1	LAT (4)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	severe combined immunodeficiency due to LCK deficiency	1	1	LCK (4)	0.01923	1.00000	3.312e-3	4.303e-3	10
Severe combined immunodeficiency	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	1	1	ADA (7)	0.01923	1.00000	3.312e-3	4.303e-3	
Severe combined immunodeficiency	T-B+ severe combined immunodeficiency due to JAK3 deficiency	1	1	JAK3 (4)	0.01923	1.00000	3.312e-3	4.303e-3	10
Severe combined immunodeficiency	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	1	1	FOXN1 (3)	0.01923	1.00000	3.312e-3	4.303e-3	10
Muscular dystrophy	TOR1AIP1-related multisystem disorder	1	1	TOR1AIP1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Muscular dystrophy	TOR1AIP1-related myopathy	1	1	TOR1AIP1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Ghosal hematodiaphyseal dysplasia	Ischemic stroke	1	1	TBXAS1 (7)	0.01923	1.00000	3.312e-3	4.303e-3	
immunodeficiency 106, susceptibility to viral infections	Narcolepsy	1	1	IFNAR1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	1
immunodeficiency 15a	Severe combined immunodeficiency	1	1	IKBKB (4)	0.01923	1.00000	3.312e-3	4.303e-3	
immunodeficiency 18	Severe combined immunodeficiency	1	1	CD3E (3)	0.01923	1.00000	3.312e-3	4.303e-3	10
immunodeficiency 19	Severe combined immunodeficiency	1	1	CD3D (3)	0.01923	1.00000	3.312e-3	4.303e-3	10
immunodeficiency 23	Severe combined immunodeficiency	1	1	PGM3 (2)	0.01923	1.00000	3.312e-3	4.303e-3	10
immunodeficiency 25	Severe combined immunodeficiency	1	1	CD247 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
immunodeficiency 92	Memory disorders	1	1	REL (3)	0.01923	1.00000	3.312e-3	4.303e-3	
inflammatory bowel disease 25	Narcolepsy	1	1	IL10RB (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Intellectual developmental disorder autism speech dysmorphic	Memory disorders	1	1	CHD1 (3)	0.01923	1.00000	3.312e-3	4.303e-3	
Intellectual developmental disorder movement cerebellar	Muscular dystrophy	1	1	TRAPPC11 (3)	0.01923	1.00000	3.312e-3	4.303e-3	
Dysgnathia complex	Otosclerosis	1	1	PRRX1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	381
factor 5 and Factor VIII, combined deficiency of, 2	Severe combined immunodeficiency	1	1	MCFD2 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
FNIP1-associated syndrome	Wolff-parkinson-white syndrome	1	1	FNIP1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	3
Narcolepsy	Uric acid urolithiasis	1	1	ZNF365 (2)	0.01923	1.00000	3.312e-3	4.303e-3	1
Beta-aminoisobutyric aciduria	Ischemic stroke	1	1	AGXT2 (3)	0.01923	1.00000	3.312e-3	4.303e-3	
Beta-sarcoglycanopathy	Muscular dystrophy	1	1	SGCB (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Birbeck granule deficiency	Narcolepsy	1	1	CD207 (4)	0.01923	1.00000	3.312e-3	4.303e-3	1
Apolipoprotein a5 deficiency	Ischemic stroke	1	1	APOA5 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
bardet-biedl syndrome 11	Muscular dystrophy	1	1	TRIM32 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Claudication	Ischemic stroke	1	0	AGXT2 (1)	0.01923	1.00000	3.312e-3	4.303e-3	
combined immunodeficiency due to CD3gamma deficiency	Severe combined immunodeficiency	1	1	CD3G (2)	0.01923	1.00000	3.312e-3	4.303e-3	10
combined immunodeficiency due to DOCK8 deficiency	Severe combined immunodeficiency	1	1	DOCK8 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
combined immunodeficiency due to LRBA deficiency	Severe combined immunodeficiency	1	1	LRBA (2)	0.01923	1.00000	3.312e-3	4.303e-3	10
combined immunodeficiency due to MALT1 deficiency	Severe combined immunodeficiency	1	1	MALT1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
combined immunodeficiency due to STK4 deficiency	Severe combined immunodeficiency	1	1	STK4 (2)	0.01923	1.00000	3.312e-3	4.303e-3	10
combined immunodeficiency due to ZAP70 deficiency	Severe combined immunodeficiency	1	1	ZAP70 (3)	0.01923	1.00000	3.312e-3	4.303e-3	
congenital disorder of deglycosylation 2	Otosclerosis	1	1	MAN2C1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Congenital insufficiency of mitral valve	Narcolepsy	1	1	LMCD1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Agnathia-otocephaly	Otosclerosis	1	0	PRRX1 (1)	0.01923	1.00000	3.312e-3	4.303e-3	381
Amr syndrome	Otosclerosis	1	1	AHSG (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Anus neoplasms	Ischemic stroke	1	1	IFNB1 (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Dihydropyrimidinase deficiency	Otosclerosis	1	1	DPYS (5)	0.01923	1.00000	3.312e-3	4.303e-3	
dilated cardiomyopathy 1I	Muscular dystrophy	1	1	DES (2)	0.01923	1.00000	3.312e-3	4.303e-3	
dilated cardiomyopathy 1JJ	Wolff-parkinson-white syndrome	1	1	LAMA4 (2)	0.01923	1.00000	3.312e-3	4.303e-3	3
dilated cardiomyopathy 1W	Wolff-parkinson-white syndrome	1	1	VCL (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Distal myotilinopathy	Muscular dystrophy	1	1	MYOT (2)	0.01923	1.00000	3.312e-3	4.303e-3	
Caudate atrophy	Memory disorders	1	0	TYROBP (1)	0.01923	1.00000	3.312e-3	4.303e-3	
Cernunnos-XLF deficiency	Severe combined immunodeficiency	1	1	NHEJ1 (3)	0.01923	1.00000	3.312e-3	4.303e-3	
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Muscular dystrophy	1	1	MYH2 (3)	0.01923	1.00000	3.312e-3	4.303e-3	
1p36 deletion syndrome	complex neurodevelopmental disorder with or without congenital anomalies	1	1	RERE (3)	0.05882	0.25000	3.373e-3	4.368e-3	
1p36 deletion syndrome	Wallerian degeneration	1	1	UBE4B (3)	0.05882	0.25000	3.373e-3	4.368e-3	
Chronobiology disorder	Thyroid gland neoplasms	1	1	NPAS2 (3)	0.05882	0.25000	3.373e-3	4.368e-3	
Mitochondrial myopathy with sideroblastic anemia	Posterior cortical atrophy	1	1	PUS1 (6)	0.05882	0.25000	3.373e-3	4.368e-3	
Amino acid metabolism disorder	Thyroid hormone metabolism disorder	1	1	SECISBP2 (5)	0.03571	0.50000	3.374e-3	4.368e-3	
Bradycardia	Water intoxication	1	1	UTS2 (2)	0.03571	0.50000	3.374e-3	4.368e-3	
Dyskeratosis congenita	Primary cutaneous anaplastic large cell lymphoma	1	1	NPM1 (4)	0.03571	0.50000	3.374e-3	4.368e-3	
Duplication 15q11-q13 syndrome	Dyskinesia	1	1	AUTS2 (2)	0.03571	0.50000	3.374e-3	4.368e-3	
Arthritis	Giant axonal neuropathy	1	1	GAN (7)	0.03571	0.50000	3.374e-3	4.368e-3	
Gm2 gangliosidosis	Leukodystrophy	1	0	HEXA (1)	0.03571	0.50000	3.374e-3	4.368e-3	
Amino acid metabolism disorder	Hyperprolinemia	1	1	PRODH (6)	0.03571	0.50000	3.374e-3	4.368e-3	
Camos syndrome	Dyskinesia	1	1	WDR73 (3)	0.03571	0.50000	3.374e-3	4.368e-3	
Arthritis	Autoimmune interstitial lung disease-arthritis syndrome	1	1	COPA (5)	0.03571	0.50000	3.374e-3	4.368e-3	
Developmental delay with short stature and dysmorphic facial features	Hydrocephalus	1	1	DPH1 (7)	0.03571	0.50000	3.374e-3	4.368e-3	
Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome	Hydrocephalus	1	1	DPH1 (3)	0.03571	0.50000	3.374e-3	4.368e-3	
Amino acid metabolism disorder	Creatine deficiency	1	1	GAMT (2)	0.03571	0.50000	3.374e-3	4.368e-3	
Creutzfeldt-jakob disease	Dementia in huntington’s disease	1	1	PRNP (4)	0.03571	0.50000	3.374e-3	4.368e-3	
Autoimmune pancreatitis	Creutzfeldt-jakob disease	1	1	HLA-DQB1 (2)	0.03571	0.50000	3.374e-3	4.368e-3	
Ankle fracture	Creutzfeldt-jakob disease	1	1	CPED1 (3)	0.03571	0.50000	3.374e-3	4.368e-3	
ADAM9-related retinopathy	Retinopathy	1	1	ADAM9 (2)	0.01887	1.00000	3.377e-3	4.368e-3	238
agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Arrhythmogenic right ventricular cardiomyopathy	1	1	CDH2 (5)	0.01887	1.00000	3.377e-3	4.368e-3	
AIPL1-related retinopathy	Retinopathy	1	1	AIPL1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Alpha-n-acetylgalactosaminidase deficiency	Pena-shokeir syndrome 	1	1	NAGA (4)	0.01887	1.00000	3.377e-3	4.368e-3	
Aminoglycoside-induced deafness	Liver failure	1	1	TRMU (4)	0.01887	1.00000	3.377e-3	4.368e-3	
Bladder dysfunction	Vascular disease	1	1	CHRNA3 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Breast/nipple aplasia or hypoplasia	Conduct disorder	1	1	PTPRF (5)	0.01887	1.00000	3.377e-3	4.368e-3	
Childhood-onset benign chorea with striatal involvement	Conduct disorder	1	1	PDE10A (3)	0.01887	1.00000	3.377e-3	4.368e-3	413
CHRNG-associated hypo-akinesia disorder of prenatal onset	Pena-shokeir syndrome 	1	1	CHRNG (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Conduct disorder	Congenital absence of breast with absent nipple	1	1	PTPRF (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Conduct disorder	Congenital hypogonadotropic hypogonadism	1	1	EMX2 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Corpus callosum agenesis with facial anomalies and cerebellar ataxia	Osteonecrosis of the femoral head	1	1	FRMD4A (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Corpus callosum agenesis with facial anomalies and cerebellar ataxia	Vascular disease	1	1	FRMD4A (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Cria syndrome	Osteonecrosis of the femoral head	1	1	RIPK1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Apolipoprotein c-ii deficiency	Liver failure	1	1	APOC2 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Apolipoprotein c2 deficiency	Liver failure	1	1	APOC2 (5)	0.01887	1.00000	3.377e-3	4.368e-3	
Arrhythmogenic right ventricular cardiomyopathy	Atrial tachyarrhythmia, infra-hisian cardiac conduction disease	1	0	TNNI3K (1)	0.01887	1.00000	3.377e-3	4.368e-3	3
autoimmune lymphoproliferative syndrome type 1	Liver failure	1	1	FASLG (3)	0.01887	1.00000	3.377e-3	4.368e-3	63
CYP7B1-related disorder of oxysterol accumulation	Retinopathy	1	1	CYP7B1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Dihydropteridine reductase deficiency	Liver failure	1	1	QDPR (5)	0.01887	1.00000	3.377e-3	4.368e-3	63
Arrhythmogenic right ventricular cardiomyopathy	dilated cardiomyopathy 1CC	1	1	NEXN (2)	0.01887	1.00000	3.377e-3	4.368e-3	3
Arrhythmogenic right ventricular cardiomyopathy	dilated cardiomyopathy 1FF	1	1	TNNI3 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Arrhythmogenic right ventricular cardiomyopathy	dilated cardiomyopathy 1JJ	1	1	LAMA4 (2)	0.01887	1.00000	3.377e-3	4.368e-3	3
Arrhythmogenic right ventricular cardiomyopathy	dilated cardiomyopathy 1Y	1	1	TPM1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	3
Arrhythmogenic right ventricular cardiomyopathy	dilated cardiomyopathy 1Z	1	1	TNNC1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	3
Arrhythmogenic right ventricular cardiomyopathy	dilated cardiomyopathy 2A	1	1	TNNI3 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Hypo-akinesia disorder of prenatal onset	Pena-shokeir syndrome 	1	1	CHRNG (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Hypokalemia-hypomagnesemia	Vascular disease	1	1	SLC12A3 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection-lymphopenia syndrome	Osteonecrosis of the femoral head	1	1	RIPK1 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
immunodeficiency 57	Osteonecrosis of the femoral head	1	1	RIPK1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Urinary bladder dysfunction	Vascular disease	1	1	CHRNA3 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Retinopathy	X-linked retinitis pigmentosa	1	1	RP2 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Pena-shokeir syndrome 	Schaaf-yang syndrome	1	1	MAGEL2 (5)	0.01887	1.00000	3.377e-3	4.368e-3	
Pena-shokeir syndrome 	Schindler disease	1	1	NAGA (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Conduct disorder	Separation anxiety disorder	1	0	DRD4 (1)	0.01887	1.00000	3.377e-3	4.368e-3	
Conduct disorder	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	1	1	GATAD2B (2)	0.01887	1.00000	3.377e-3	4.368e-3	413
Liver failure	spinocerebellar ataxia, autosomal recessive 31	1	1	ATG7 (3)	0.01887	1.00000	3.377e-3	4.368e-3	63
Pena-shokeir syndrome 	succinic semialdehyde dehydrogenase deficiency	1	1	ALDH5A1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Retinopathy	thrombocytopenia 6	1	1	SRC (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Oxysterol accumulation disorder	Retinopathy	1	1	CYP7B1 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Conduct disorder	maple syrup urine disease, mild variant	1	1	PPM1K (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Liver failure	medium chain acyl-coa dehydrogenase deficiency	1	1	ACADM (3)	0.01887	1.00000	3.377e-3	4.368e-3	
Mowat-wilson syndrome	Pena-shokeir syndrome 	1	1	ZEB2 (7)	0.01887	1.00000	3.377e-3	4.368e-3	
Arrhythmogenic right ventricular cardiomyopathy	intrinsic cardiomyopathy	1	1	PLN (3)	0.01887	1.00000	3.377e-3	4.368e-3	3
Arrhythmogenic right ventricular cardiomyopathy	lissencephaly 10	1	1	CEP85L (2)	0.01887	1.00000	3.377e-3	4.368e-3	3
Arrhythmogenic right ventricular cardiomyopathy	long qt syndrome 5	1	1	KCNE1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
fructose-1,6-bisphosphatase deficiency	Liver failure	1	1	FBP1 (3)	0.01887	1.00000	3.377e-3	4.368e-3	
gaze palsy, familial horizontal, with progressive scoliosis 1	Retinopathy	1	1	ROBO3 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Genetic renal tubular disease	Vascular disease	1	1	SLC12A3 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
RD3-related retinopathy	Retinopathy	1	1	RD3 (2)	0.01887	1.00000	3.377e-3	4.368e-3	238
RDH5-related retinopathy	Retinopathy	1	1	RDH5 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Retinopathy	RP1-related dominant retinopathy	1	1	RP1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Retinopathy	RP1-related recessive retinopathy	1	1	RP1 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Retinopathy	RP2-related retinopathy	1	1	RP2 (2)	0.01887	1.00000	3.377e-3	4.368e-3	
Conduct disorder	Dyskinesia, limb and orofacial, infantile-onset	1	1	PDE10A (4)	0.01887	1.00000	3.377e-3	4.368e-3	413
Arrhythmogenic right ventricular cardiomyopathy	familial isolated arrhythmogenic right ventricular dysplasia	1	1	DSC2 (6)	0.01887	1.00000	3.377e-3	4.368e-3	3
Dyskinesia, limb and orofacial, infantile-onset	Hyperthyroidism	1	1	PDE10A (4)	0.01852	1.00000	3.442e-3	4.441e-3	
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Peripheral nervous system disease	1	1	UCHL1 (4)	0.01852	1.00000	3.442e-3	4.441e-3	
erythrokeratodermia variabilis et progressiva 4	Lymphoma	1	1	KDSR (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Lymphoma	Mucosa-associated lymphoma	1	1	BCL10 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Congenital anomalies of the kidney and urinary tract	nephronophthisis 1	1	1	NPHP1 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Congenital anomalies of the kidney and urinary tract	nephronophthisis 4	1	1	NPHP4 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Gastric ulcer	neuroblastoma, susceptibility to, 3	1	1	ALK (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Lymphoma	T-B+ severe combined immunodeficiency due to JAK3 deficiency	1	1	JAK3 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Myeloproliferative disorder	Thrombasthenia-thrombocytopenia	1	1	GFI1B (3)	0.01852	1.00000	3.442e-3	4.441e-3	
Hyperprolactinemia	Hyperthyroidism	1	1	PRLR (4)	0.01852	1.00000	3.442e-3	4.441e-3	
immunodeficiency 37	Lymphoma	1	1	BCL10 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Hyperthyroidism	immunodeficiency 64	1	1	RASGRP1 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Lymphoma	1	1	RAC2 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Lymphoma	1	1	RAC2 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Intellectual developmental disorder dysmorphic skeletal hair	Lymphoma	1	1	BCL11B (3)	0.01852	1.00000	3.442e-3	4.441e-3	
Gastric ulcer	tubulointerstitial kidney disease, autosomal dominant, 2	1	1	MUC1 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Thyroid disease	Ulnar-mammary syndrome	1	1	TBX3 (6)	0.01852	1.00000	3.442e-3	4.441e-3	
Lymphoma	Upper extremity deformity, congenital	1	1	EZH2 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Peripheral nervous system disease	xeroderma pigmentosum group B	1	1	ERCC3 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Congenital anomalies of the kidney and urinary tract	Yuksel-vogel-bauer syndrome	1	1	DLG5 (3)	0.01852	1.00000	3.442e-3	4.441e-3	
Lymphoma	neutrophil immunodeficiency syndrome	1	1	RAC2 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Myeloproliferative disorder	platelet-type bleeding disorder 17	1	1	GFI1B (2)	0.01852	1.00000	3.442e-3	4.441e-3	
primary angle-closure glaucoma	Thyroid disease	1	1	SPATA13 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Myeloproliferative disorder	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	1	1	NAF1 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Congenital anomalies of the kidney and urinary tract	renal dysplasia, cystic, susceptibility to	1	1	BICC1 (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Gastric ulcer	renal hypomagnesemia 4	1	1	EGF (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Intellectual developmental disorder speech dysmorphic t-cell	Lymphoma	1	1	BCL11B (6)	0.01852	1.00000	3.442e-3	4.441e-3	
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	Lymphoma	1	1	BCL11B (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Iodide peroxidase deficiency	Thyroid disease	1	1	TPO (3)	0.01852	1.00000	3.442e-3	4.441e-3	
giant axonal neuropathy 1	Peripheral nervous system disease	1	1	GAN (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Griscelli syndrome type 1	Peripheral nervous system disease	1	1	MYO5A (2)	0.01852	1.00000	3.442e-3	4.441e-3	
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Lymphoma	1	1	STAT5B (2)	0.01852	1.00000	3.442e-3	4.441e-3	
growth hormone insensitivity with immune dysregulation 1, autosomal recessive	Lymphoma	1	1	STAT5B (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Deafness-onychodystrophy syndrome	Lymphoma	1	1	ATP6V1B2 (4)	0.01852	1.00000	3.442e-3	4.441e-3	
Dimethylglycine dehydrogenase deficiency	Gastric ulcer	1	1	DMGDH (7)	0.01852	1.00000	3.442e-3	4.441e-3	
Distal myotilinopathy	Peripheral nervous system disease	1	1	MYOT (3)	0.01852	1.00000	3.442e-3	4.441e-3	
Cerebellar cortical atrophy	Peripheral nervous system disease	1	1	MYO5A (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Charcot-Marie-Tooth disease axonal type 2CC	Peripheral nervous system disease	1	1	NEFH (2)	0.01852	1.00000	3.442e-3	4.441e-3	304
Childhood-onset benign chorea with striatal involvement	Hyperthyroidism	1	1	PDE10A (3)	0.01852	1.00000	3.442e-3	4.441e-3	
Chromosome 16p13.3 deletion syndrome	Lymphoma	1	1	CREBBP (2)	0.01852	1.00000	3.442e-3	4.441e-3	
Alexander disease	Peripheral nervous system disease	1	1	GFAP (4)	0.01852	1.00000	3.442e-3	4.441e-3	
Autoinflammatory syndrome, familial, behcet-like	Lymphoma	1	1	TNFAIP3 (4)	0.01852	1.00000	3.442e-3	4.441e-3	
Congenital anomalies of the kidney and urinary tract	congenital anomaly of kidney and urinary tract	1	1	CHD1L (2)	0.01852	1.00000	3.442e-3	4.441e-3	
congenital disorder of glycosylation type II	Lymphoma	1	1	ATP6AP1 (2)	0.01852	1.00000	3.442e-3	4.441e-3	1
complex neurodevelopmental disorder with motor features	Kabuki syndrome	1	1	KMT2B (2)	0.06667	0.16667	3.502e-3	4.511e-3	
autosomal dominant nonsyndromic hearing loss	Congenital hearing disorder	1	1	PLS1 (2)	0.06667	0.16667	3.502e-3	4.511e-3	
Synovial disorder	Synovitis	1	0	WWP2 (1)	0.06667	0.16667	3.502e-3	4.511e-3	
C1 esterase inhibitor deficiency	Irritant dermatitis	1	1	C2 (2)	0.06667	0.16667	3.502e-3	4.511e-3	
Osteomyelitis	Parenchymal hematoma	1	1	ZBTB46 (2)	0.06667	0.16667	3.502e-3	4.511e-3	1
Dyslipidemias	Galactosialidosis	1	1	PLTP (2)	0.04762	0.33333	3.503e-3	4.511e-3	
Henoch schoenlein purpura	Hepatitis c induced liver cirrhosis	1	0	HLA-DRA (1)	0.04762	0.33333	3.503e-3	4.511e-3	1
Bronchial disease	Urethral disease	1	0	ZFHX3 (1)	0.04762	0.33333	3.503e-3	4.511e-3	
Developmental regression	Early-onset generalized limb-onset dystonia	1	1	EIF2AK2 (3)	0.04762	0.33333	3.503e-3	4.511e-3	
Intellectual developmental disorder dysmorphic facial	syndromic complex neurodevelopmental disorder	1	1	SETD5 (3)	0.04762	0.33333	3.503e-3	4.511e-3	
Chorioretinopathy with microcephaly	Seckel syndrome	1	1	PLK4 (3)	0.04762	0.33333	3.503e-3	4.511e-3	
Cirrhosis	Sick sinus syndrome	1	1	KRT8 (3)	0.04762	0.33333	3.503e-3	4.511e-3	
Congenital disorder of deglycosylation	Dyslipidemias	1	1	NEIL1 (2)	0.04762	0.33333	3.503e-3	4.511e-3	
Combined immunodeficiency, x-linked	Sezary syndrome	1	1	IL2RG (3)	0.03448	0.50000	3.504e-3	4.511e-3	
Dementia in huntington’s disease	Hepatolenticular degeneration	1	1	PRNP (2)	0.03448	0.50000	3.504e-3	4.511e-3	
Aneurysm	Breast fibrocystic disease	1	0	CSMD1 (1)	0.03448	0.50000	3.504e-3	4.511e-3	
Amish infantile epilepsy syndrome	Hashimoto disease	1	1	ATXN2 (2)	0.03448	0.50000	3.504e-3	4.511e-3	
Aneurysm	Peeling skin syndrome with leukonychia and acral punctate keratoses	1	1	CAST (7)	0.03448	0.50000	3.504e-3	4.511e-3	
Hashimoto disease	Periodontal ehlers-danlos syndrome	1	1	C1S (3)	0.03448	0.50000	3.504e-3	4.511e-3	
Malonic aciduria	Methylmalonic acidemia	1	1	ACSF3 (2)	0.03448	0.50000	3.504e-3	4.511e-3	
Progressive supranuclear palsy	Uinary system neoplasms	1	0	SLC2A13 (1)	0.03448	0.50000	3.504e-3	4.511e-3	
Aneurysm	Vitreous body disease	1	0	NCKAP5 (1)	0.03448	0.50000	3.504e-3	4.511e-3	50
Male infertility acephalic spermatozoa	Teratozoospermia	1	1	PMFBP1 (2)	0.03448	0.50000	3.504e-3	4.511e-3	
Cortical development malformation	Seborrhea-like dermatitis with psoriasiform elements	1	1	TBCD (2)	0.03448	0.50000	3.504e-3	4.511e-3	
Cortical development malformation	Skraban-deardorff syndrome	1	1	WDR62 (2)	0.03448	0.50000	3.504e-3	4.511e-3	
Aplasia of the vermis	nephronophthisis 1	1	1	NPHP1 (2)	0.01818	1.00000	3.507e-3	4.511e-3	8
intellectual developmental disorder 59	Psoriasis vulgaris	1	1	CAMK2G (2)	0.01818	1.00000	3.507e-3	4.511e-3	14
giant axonal neuropathy 1	Non-neoplastic peripheral nervous system disease	1	1	GAN (2)	0.01818	1.00000	3.507e-3	4.511e-3	
GRHL3-related orofacial clefting	Psoriasis vulgaris	1	1	GRHL3 (2)	0.01818	1.00000	3.507e-3	4.511e-3	
Aplasia of the vermis	Heart defect, tongue hamartoma and polysyndactyly	1	1	WDPCP (4)	0.01818	1.00000	3.507e-3	4.511e-3	8
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Non-neoplastic peripheral nervous system disease	1	1	UCHL1 (3)	0.01818	1.00000	3.507e-3	4.511e-3	
Cognition disorder	ornithine carbamoyltransferase deficiency	1	1	OTC (2)	0.01818	1.00000	3.507e-3	4.511e-3	
Aplasia of the vermis	orofaciodigital syndrome type 14	1	1	C2CD3 (2)	0.01818	1.00000	3.507e-3	4.511e-3	8
Cognition disorder	Intracranial hypertension	1	0	SLC4A10 (1)	0.01818	1.00000	3.507e-3	4.511e-3	
Aplasia of the vermis	joubert syndrome 21	1	1	CSPP1 (2)	0.01818	1.00000	3.507e-3	4.511e-3	8
Aplasia of the vermis	joubert syndrome 24	1	1	TCTN2 (2)	0.01818	1.00000	3.507e-3	4.511e-3	8
Aplasia of the vermis	joubert syndrome 30	1	1	ARMC9 (2)	0.01818	1.00000	3.507e-3	4.511e-3	8
Non-neoplastic peripheral nervous system disease	xeroderma pigmentosum group B	1	1	ERCC3 (2)	0.01818	1.00000	3.507e-3	4.511e-3	
Aplasia of the vermis	Ziegler-huang syndrome	1	1	SLC30A7 (2)	0.01818	1.00000	3.507e-3	4.511e-3	
Alexander disease	Non-neoplastic peripheral nervous system disease	1	1	GFAP (3)	0.01818	1.00000	3.507e-3	4.511e-3	
Distal myotilinopathy	Non-neoplastic peripheral nervous system disease	1	1	MYOT (2)	0.01818	1.00000	3.507e-3	4.511e-3	
Autoimmunity-autoinflammation-immunodeficiency syndrome	Psoriasis vulgaris	1	1	SOCS1 (2)	0.01818	1.00000	3.507e-3	4.511e-3	
Autoinflammatory syndrome with immunodeficiency	Psoriasis vulgaris	1	1	SOCS1 (3)	0.01818	1.00000	3.507e-3	4.511e-3	
Autoinflammatory syndrome, familial, behcet-like	Psoriasis vulgaris	1	1	TNFAIP3 (5)	0.01818	1.00000	3.507e-3	4.511e-3	
Autoinflammatory syndrome, familial, with or without immunodeficiency	Psoriasis vulgaris	1	1	SOCS1 (3)	0.01818	1.00000	3.507e-3	4.511e-3	
Cognition disorder	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	1	1	AFF4 (4)	0.01818	1.00000	3.507e-3	4.511e-3	
Aplasia of the vermis	Congenital cerebral hernia	1	0	PIBF1 (1)	0.01818	1.00000	3.507e-3	4.511e-3	8
Charcot-Marie-Tooth disease axonal type 2CC	Non-neoplastic peripheral nervous system disease	1	1	NEFH (2)	0.01818	1.00000	3.507e-3	4.511e-3	304
Chops syndrome	Cognition disorder	1	1	AFF4 (3)	0.01818	1.00000	3.507e-3	4.511e-3	
Lymphoblastic leukemia	Mixed connective tissue disease	2	0	MYRIP (1), KCNMB2 (1)	0.02500	0.08333	3.527e-3	4.536e-3	
Dyshidrosis	Periodic limb movement disorder	1	0	PTPRD (1)	0.06250	0.20000	3.567e-3	4.587e-3	
Dyshidrosis	Sarcopenia	1	0	PTPRD (1)	0.06250	0.20000	3.567e-3	4.587e-3	
Cutaneous lupus erythematosus	Malocclusion	1	1	CSNK2B (2)	0.06250	0.20000	3.567e-3	4.587e-3	
Central precocious puberty	Kleins syndrome	1	1	PAX3 (2)	0.06250	0.20000	3.567e-3	4.587e-3	186
Aneuploidy	Mosaic variegated aneuploidy	1	1	TRIP13 (5)	0.06250	0.20000	3.567e-3	4.587e-3	
8q24.3 microdeletion syndrome	Necrosis	1	1	PUF60 (2)	0.01786	1.00000	3.572e-3	4.589e-3	
Charcot-Marie-Tooth disease type 4B2	Hemolytic anemia	1	1	SBF2 (2)	0.01786	1.00000	3.572e-3	4.589e-3	12
Bisphosphoglycerate mutase deficiency	Hemolytic anemia	1	1	BPGM (4)	0.01786	1.00000	3.572e-3	4.589e-3	
Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome	Necrosis	1	1	HMGB1 (2)	0.01786	1.00000	3.572e-3	4.589e-3	
Camptodactyly	Clear cell renal cell carcinoma	1	1	TLN2 (3)	0.01786	1.00000	3.572e-3	4.589e-3	
Clear cell renal cell carcinoma	fanconi anemia complementation group d2	1	1	FANCD2 (2)	0.01786	1.00000	3.572e-3	4.589e-3	
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	Necrosis	1	1	CDC42 (2)	0.01786	1.00000	3.572e-3	4.589e-3	63
Necrosis	spinocerebellar ataxia, autosomal recessive 25	1	1	ATG5 (2)	0.01786	1.00000	3.572e-3	4.589e-3	
Necrosis	spinocerebellar ataxia, autosomal recessive 31	1	1	ATG7 (2)	0.01786	1.00000	3.572e-3	4.589e-3	63
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome	Necrosis	1	1	HMGB1 (2)	0.01786	1.00000	3.572e-3	4.589e-3	
Intellectual developmental disorder dysmorphic cardiac short stature	Necrosis	1	1	PUF60 (3)	0.01786	1.00000	3.572e-3	4.589e-3	
Hemolytic anemia	Triose phosphate isomerase deficiency	1	1	TPI1 (6)	0.01786	1.00000	3.572e-3	4.589e-3	
Hemolytic anemia	Uridine monophosphate hydrolase deficiency	1	1	NT5C3A (5)	0.01786	1.00000	3.572e-3	4.589e-3	12
Necrosis	Verheij syndrome	1	1	PUF60 (2)	0.01786	1.00000	3.572e-3	4.589e-3	
Hemolytic anemia	pyruvate kinase deficiency of red cells	1	1	PKLR (3)	0.01786	1.00000	3.572e-3	4.589e-3	
Hemolytic anemia	Rh-null, amorph type	1	1	RHCE (3)	0.01786	1.00000	3.572e-3	4.589e-3	
Hemolytic anemia	Rh-null, regulator type	1	1	RHAG (3)	0.01786	1.00000	3.572e-3	4.589e-3	
Carotid artery disease	Rh-null, regulator type	1	1	RHAG (4)	0.01786	1.00000	3.572e-3	4.589e-3	
Jarcho-levin syndrome	Mayer-rokitansky-kuster-hauser syndrome	1	1	TBX6 (2)	0.06667	0.14286	3.632e-3	4.662e-3	
Machado-joseph disease	Pemphigus vulgaris	1	0	THSD7B (1)	0.06667	0.14286	3.632e-3	4.662e-3	
Duodenitis	Gallbladder disease	1	1	ABCG8 (4)	0.06667	0.14286	3.632e-3	4.662e-3	
Chondromalacia	Peritonitis	1	0	ARHGAP15 (1)	0.06667	0.14286	3.632e-3	4.662e-3	
Connective tissue neoplasm	Pemphigus vulgaris	1	0	THSD7B (1)	0.06667	0.14286	3.632e-3	4.662e-3	
Congenital hydrocephalus	Cryptospermia	1	1	TRIM71 (4)	0.05556	0.25000	3.632e-3	4.662e-3	298
Anophthalmia	Male reproductive system disease	1	1	WNT7B (2)	0.05556	0.25000	3.632e-3	4.662e-3	
Obstructive azoospermia	Spermatogenic failure, y-linked	1	0	CFTR (1)	0.05556	0.25000	3.632e-3	4.662e-3	
Endocrine system disease	Parathyroid disease	1	1	EBF2 (3)	0.05556	0.25000	3.632e-3	4.662e-3	
Houge janssens syndrome	Papillary thyroid cancer	1	1	PPP2R5C (2)	0.05556	0.25000	3.632e-3	4.662e-3	
Intellectual developmental disorder dysmorphic cerebellar	Leber hereditary optic neuropathy	1	1	CYTB (2)	0.03333	0.50000	3.634e-3	4.662e-3	
Hepatic veno occlusive disease with immunodeficiency	Lymphoid leukemia	1	1	SP140 (2)	0.03333	0.50000	3.634e-3	4.662e-3	
Idiopathic steroid-resistant nephrotic syndrome	Nephrotic syndrome, steroid-resistant, autosomal recessive	1	1	NPHS2 (2)	0.03333	0.50000	3.634e-3	4.662e-3	20
Encephalopathy due to mitochondrial and peroxisomal fission defect	Exostoses	1	1	MFF (2)	0.03333	0.50000	3.634e-3	4.662e-3	
Multinodular goiter	Ochoa syndrome	1	1	HPSE2 (2)	0.03333	0.50000	3.634e-3	4.662e-3	
Parapsoriasis	Scleroderma	1	1	HLA-A (2)	0.03333	0.50000	3.634e-3	4.662e-3	
Multinodular goiter	Urofacial syndrome	1	1	HPSE2 (5)	0.03333	0.50000	3.634e-3	4.662e-3	
Hypertriglyceridemia	Interstitial nephritis	1	1	FAN1 (4)	0.03333	0.50000	3.634e-3	4.662e-3	
Intestinal hypomagnesemia	Mastocytosis	1	0	TRPV6 (1)	0.03333	0.50000	3.634e-3	4.662e-3	
2,4-dienoyl-coa reductase deficiency	Multinodular goiter	1	1	NADK2 (4)	0.03333	0.50000	3.634e-3	4.662e-3	
Acid-base disorder	Oral cavity carcinoma	1	0	ADH1B (1)	0.03333	0.50000	3.634e-3	4.662e-3	
Cerebellar ataxia, neuropathy, and vestibular areflexia	Hereditary parkinson disease	1	1	RFC1 (3)	0.03333	0.50000	3.634e-3	4.662e-3	
Cerebellar, ocular, craniofacial, and genital syndrome	Diverticulitis	1	1	NBEA (2)	0.03333	0.50000	3.634e-3	4.662e-3	
Atrophic macular degeneration	Cerebellar vermis atrophy	1	1	SYN3 (2)	0.01754	1.00000	3.637e-3	4.663e-3	
Chops syndrome	Delirium, dementia, and cognitive disorders	1	1	AFF4 (3)	0.01754	1.00000	3.637e-3	4.663e-3	
Apolipoprotein c-iii deficiency	Delirium, dementia, and cognitive disorders	1	1	APOC3 (4)	0.01754	1.00000	3.637e-3	4.663e-3	
Atrophic macular degeneration	BARD1-related cancer predisposition	1	1	BARD1 (2)	0.01754	1.00000	3.637e-3	4.663e-3	
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	Delirium, dementia, and cognitive disorders	1	1	AFF4 (4)	0.01754	1.00000	3.637e-3	4.663e-3	
Delirium, dementia, and cognitive disorders	Intracranial hypertension	1	1	SLC4A10 (2)	0.01754	1.00000	3.637e-3	4.663e-3	
Clonal hematopoiesis	Isolated anhidrosis	1	1	ITPR2 (3)	0.01754	1.00000	3.637e-3	4.663e-3	
Clonal hematopoiesis	skeletal dysplasia, mild, with joint laxity and advanced bone age	1	1	CSGALNACT1 (2)	0.01754	1.00000	3.637e-3	4.663e-3	
Bell's palsy	spermatogenic failure 46	1	1	DNAH8 (2)	0.01754	1.00000	3.637e-3	4.663e-3	
Atrophic macular degeneration	trichohepatoenteric syndrome 2	1	1	SKIC2 (2)	0.01754	1.00000	3.637e-3	4.663e-3	
Delirium, dementia, and cognitive disorders	ornithine carbamoyltransferase deficiency	1	1	OTC (2)	0.01754	1.00000	3.637e-3	4.663e-3	
neurometabolic disorder due to serine deficiency	Neuropathy	1	1	PHGDH (2)	0.04545	0.33333	3.697e-3	4.730e-3	
Blepharoptosis	Marinesco-sjogren syndrome	1	1	SIL1 (6)	0.04545	0.33333	3.697e-3	4.730e-3	
maturity-onset diabetes of the young type 8	Pancreatitis	1	1	CEL (3)	0.01724	1.00000	3.702e-3	4.730e-3	
nephrotic syndrome, type 20	Pancreatitis	1	1	TBC1D8B (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Movement disorder	Neurodegeneration peripheral neuropathy syndrome	1	1	CLCN6 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Movement disorder	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	1	1	CLCN6 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Neutropenia	Neutrophilic leukemia	1	1	CSF3R (2)	0.01724	1.00000	3.702e-3	4.730e-3	211
Lymphoblastic leukemia	PAX5-related B lymphopenia and autism spectrum disorder	1	1	PAX5 (3)	0.01724	1.00000	3.702e-3	4.730e-3	
KCNH1 associated disorder	Osteosarcoma	1	1	KCNH1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
leukemia, acute lymphoblastic, susceptibility to, 3	Lymphoblastic leukemia	1	1	PAX5 (3)	0.01724	1.00000	3.702e-3	4.730e-3	
Angioedema	leukodystrophy, hypomyelinating, 16	1	1	TMEM106B (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Movement disorder	1	1	GBA1 (4)	0.01724	1.00000	3.702e-3	4.730e-3	
Ghosal hematodiaphyseal dysplasia	Lymphoblastic leukemia	1	1	TBXAS1 (8)	0.01724	1.00000	3.702e-3	4.730e-3	
Focal glomerulosclerosis	glomerulopathy with fibronectin deposits 2	1	1	FN1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
glycogen storage disease VI	Lymphoblastic leukemia	1	1	PYGL (2)	0.01724	1.00000	3.702e-3	4.730e-3	
hermansky-pudlak syndrome 2	Neutropenia	1	1	AP3B1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Diffuse large b-cell lymphoma	immunodeficiency 97 with autoinflammation	1	1	PIK3CG (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Movement disorder	POLR3A-related disorder	1	1	POLR3A (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Dry eye syndrome	tubulointerstitial kidney disease, autosomal dominant, 2	1	1	MUC1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Diffuse large b-cell lymphoma	Upper extremity deformity, congenital	1	1	EZH2 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Neutropenia	White blood cell count quantitative trait locus	1	1	ACKR1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Movement disorder	Wiedemann-rautenstrauch syndrome	1	1	POLR3A (3)	0.01724	1.00000	3.702e-3	4.730e-3	
Osteosarcoma	X-linked dominant chondrodysplasia chassaing-lacombe type	1	1	HDAC6 (5)	0.01724	1.00000	3.702e-3	4.730e-3	
Focal glomerulosclerosis	focal segmental glomerulosclerosis and neurodevelopmental syndrome	1	1	TRIM8 (2)	0.01724	1.00000	3.702e-3	4.730e-3	20
Folic acid deficiency	Osteosarcoma	1	0	DHFR (1)	0.01724	1.00000	3.702e-3	4.730e-3	
Focal glomerulosclerosis	free sialic acid storage disease	1	1	SLC17A5 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Focal glomerulosclerosis	schimke immuno-osseous dysplasia	1	1	SMARCAL1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	20
Movement disorder	spinocerebellar ataxia type 29	1	1	ITPR1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Focal glomerulosclerosis	spondylometaphyseal dysplasia, 'corner fracture' type	1	1	FN1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Osteosarcoma	Temple-baraitser syndrome	1	1	KCNH1 (5)	0.01724	1.00000	3.702e-3	4.730e-3	
Neutropenia	Thiopurine s-methyltransferase deficiency	1	1	TPMT (3)	0.01724	1.00000	3.702e-3	4.730e-3	211
Lymphoblastic leukemia	thrombocytopenia 10	1	1	PTPRJ (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Osteosarcoma	TOPORS-related retinopathy	1	1	TOPORS (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Diffuse large b-cell lymphoma	treacher collins syndrome 2	1	1	POLR1D (2)	0.01724	1.00000	3.702e-3	4.730e-3	
combined immunodeficiency due to MALT1 deficiency	Diffuse large b-cell lymphoma	1	1	MALT1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
complex movement disorder with or without neurodevelopmental features	Movement disorder	1	1	HPCA (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Compton-north congenital myopathy	Dry eye syndrome	1	1	CNTN1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Congenital ectodermal dysplasia of face	Dry eye syndrome	1	1	TWIST2 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia	Osteosarcoma	1	1	RFC1 (5)	0.01724	1.00000	3.702e-3	4.730e-3	
Chromosome 2p16.3 deletion syndrome	Dry eye syndrome	1	1	NRXN1 (3)	0.01724	1.00000	3.702e-3	4.730e-3	
Chromosome 5q deletion syndrome	Neutropenia	1	1	RPS14 (3)	0.01724	1.00000	3.702e-3	4.730e-3	
Angioedema	Chromosome 5q12 deletion syndrome	1	1	PDE4D (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Congenital lethal myopathy 	Dry eye syndrome	1	1	CNTN1 (3)	0.01724	1.00000	3.702e-3	4.730e-3	
Corpus callosum agenesis with facial anomalies and cerebellar ataxia	Dry eye syndrome	1	1	FRMD4A (3)	0.01724	1.00000	3.702e-3	4.730e-3	
Cyclic hematopoiesis	Neutropenia	1	1	ELANE (4)	0.01724	1.00000	3.702e-3	4.730e-3	
Delpire-mcneill syndrome	Movement disorder	1	1	SLC12A2 (4)	0.01724	1.00000	3.702e-3	4.730e-3	
dilated cardiomyopathy 1Y	Neutropenia	1	1	TPM1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
aromatic l-amino acid decarboxylase deficiency	Lymphoblastic leukemia	1	1	DDC (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Aromatic l-amino-acid decarboxylase deficiency	Lymphoblastic leukemia	1	1	DDC (3)	0.01724	1.00000	3.702e-3	4.730e-3	
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome	Lymphoblastic leukemia	1	1	CEBPE (3)	0.01724	1.00000	3.702e-3	4.730e-3	
autosomal recessive osteopetrosis 3	Pancreatitis	1	1	CA2 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Barber-say syndrome	Dry eye syndrome	1	1	TWIST2 (7)	0.01724	1.00000	3.702e-3	4.730e-3	
bardet-biedl syndrome 16	Focal glomerulosclerosis	1	1	SDCCAG8 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Ablepharon macrostomia syndrome	Dry eye syndrome	1	1	TWIST2 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
agammaglobulinemia 3, autosomal recessive	Diffuse large b-cell lymphoma	1	1	CD79A (2)	0.01724	1.00000	3.702e-3	4.730e-3	
agammaglobulinemia 6, autosomal recessive	Diffuse large b-cell lymphoma	1	1	CD79B (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Bilateral congenital mydriasis	Movement disorder	1	0	ITPR1 (1)	0.01724	1.00000	3.702e-3	4.730e-3	
Bilateral vestibulopathy	Osteosarcoma	1	1	RFC1 (2)	0.01724	1.00000	3.702e-3	4.730e-3	
Bjornstad syndrome	Movement disorder	1	1	BCS1L (6)	0.01724	1.00000	3.702e-3	4.730e-3	
Birk-aharoni syndrome	Neurodevelopmental disorder	2	1	PSMC1 (5), NRDE2 (1)	0.00213	1.00000	3.707e-3	4.736e-3	
Buratti-harel syndrome	Neurodevelopmental disorder	2	1	LONP2 (1), SIAH1 (5)	0.00213	1.00000	3.707e-3	4.736e-3	6
Cochlear diseases	Mitochondrial dna depletion syndrome	1	1	MPV17 (4)	0.03226	0.50000	3.763e-3	4.804e-3	
Dermatosparaxis ehlers-danlos syndrome	Heart valve prolapse	1	1	ADAMTSL2 (2)	0.03226	0.50000	3.763e-3	4.804e-3	
Congenital myasthenic syndrome	Intellectual developmental disorder autism dysmorphic	1	1	CHD8 (5)	0.03226	0.50000	3.763e-3	4.804e-3	
Duchenne muscular dystrophy	Intellectual developmental disorder seizures extrapyramidal	1	1	SATB1 (2)	0.03226	0.50000	3.763e-3	4.804e-3	
Peeling skin syndrome with leukonychia and acral punctate keratoses	Vasculitis	1	1	CAST (6)	0.03226	0.50000	3.763e-3	4.804e-3	
immunodeficiency 126, susceptibility to	Ocular sarcoidosis	1	1	PTCRA (2)	0.01695	1.00000	3.767e-3	4.804e-3	1
Ocular sarcoidosis	scalp-ear-nipple syndrome	1	1	KCTD1 (2)	0.01695	1.00000	3.767e-3	4.804e-3	1
Ocular sarcoidosis	severe combined immunodeficiency due to CORO1A deficiency	1	1	CORO1A (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Hepatomegaly	spinocerebellar ataxia, autosomal recessive 25	1	1	ATG5 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Hepatomegaly	spinocerebellar ataxia, autosomal recessive 31	1	1	ATG7 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Hepatomegaly	megalencephalic leukoencephalopathy with subcortical cysts 1	1	1	MLC1 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
methylmalonic acidemia with homocystinuria, type cblJ	Ocular sarcoidosis	1	1	ABCD4 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Hepatomegaly	Native american myopathy	1	1	STAC3 (3)	0.01695	1.00000	3.767e-3	4.804e-3	
Joubert syndrome	nemaline myopathy 10	1	1	LMOD3 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
nephronophthisis 2	Ocular sarcoidosis	1	1	INVS (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Joubert syndrome	nephronophthisis 4	1	1	NPHP4 (2)	0.01695	1.00000	3.767e-3	4.804e-3	8
Joubert syndrome	joubert syndrome 21	1	1	CSPP1 (6)	0.01695	1.00000	3.767e-3	4.804e-3	8
Joubert syndrome	joubert syndrome 24	1	1	TCTN2 (6)	0.01695	1.00000	3.767e-3	4.804e-3	8
Joubert syndrome	joubert syndrome 30	1	1	ARMC9 (6)	0.01695	1.00000	3.767e-3	4.804e-3	8
H syndrome	Hepatomegaly	1	1	SLC29A3 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Hepatomegaly	Prolidase deficiency	1	1	PEPD (3)	0.01695	1.00000	3.767e-3	4.804e-3	
Joubert syndrome	Ziegler-huang syndrome	1	1	SLC30A7 (3)	0.01695	1.00000	3.767e-3	4.804e-3	
developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	Joubert syndrome	1	1	ARFGEF1 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Congenital right-sided heart lesions	Ocular sarcoidosis	1	0	SLC27A6 (1)	0.01695	1.00000	3.767e-3	4.804e-3	
Coralliform cataract	Hepatomegaly	1	1	CRYGD (4)	0.01695	1.00000	3.767e-3	4.804e-3	
COG6-congenital disorder of glycosylation	Ocular sarcoidosis	1	1	COG6 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Congenital cerebral hernia	Joubert syndrome	1	1	PIBF1 (5)	0.01695	1.00000	3.767e-3	4.804e-3	8
Anovulation	Hepatomegaly	1	1	NR5A2 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Bailey-Bloch congenital myopathy	Hepatomegaly	1	1	STAC3 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
BBS5-related ciliopathy	Ocular sarcoidosis	1	1	BBS5 (2)	0.01695	1.00000	3.767e-3	4.804e-3	
Bardet-biedl syndrome	bardet-biedl syndrome 11	1	1	TRIM32 (7)	0.01667	1.00000	3.832e-3	4.878e-3	
Bardet-biedl syndrome	BBS1-related ciliopathy	1	1	BBS1 (8)	0.01667	1.00000	3.832e-3	4.878e-3	8
Bardet-biedl syndrome	BBS10-related ciliopathy	1	1	BBS10 (8)	0.01667	1.00000	3.832e-3	4.878e-3	
Bardet-biedl syndrome	BBS12-related ciliopathy	1	1	BBS12 (7)	0.01667	1.00000	3.832e-3	4.878e-3	8
Bardet-biedl syndrome	BBS2-related ciliopathy	1	1	BBS2 (8)	0.01667	1.00000	3.832e-3	4.878e-3	8
Bardet-biedl syndrome	BBS4-related ciliopathy	1	1	BBS4 (7)	0.01667	1.00000	3.832e-3	4.878e-3	8
Bardet-biedl syndrome	BBS5-related ciliopathy	1	1	BBS5 (7)	0.01667	1.00000	3.832e-3	4.878e-3	
Bardet-biedl syndrome	BBS7-related ciliopathy	1	1	BBS7 (6)	0.01667	1.00000	3.832e-3	4.878e-3	8
Bardet-biedl syndrome	BBS9-related ciliopathy	1	1	BBS9 (6)	0.01667	1.00000	3.832e-3	4.878e-3	
BBS9-related ciliopathy	Craniosynostosis	1	1	BBS9 (3)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	developmental delay with variable intellectual impairment and behavioral abnormalities	1	1	TCF20 (2)	0.01667	1.00000	3.832e-3	4.878e-3	
Alpha-mannosidosis	Craniosynostosis	1	1	MAN2B1 (4)	0.01667	1.00000	3.832e-3	4.878e-3	
Alstrom syndrome	Bardet-biedl syndrome	1	1	ALMS1 (3)	0.01667	1.00000	3.832e-3	4.878e-3	
craniofrontonasal syndrome	Craniosynostosis	1	1	EFNB1 (3)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	craniosynostosis 2	1	1	MSX2 (7)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	craniosynostosis 6	1	1	ZIC1 (6)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	craniosynostosis and dental anomalies	1	1	IL11RA (7)	0.01667	1.00000	3.832e-3	4.878e-3	136
Craniosynostosis	Trident hand	1	0	NPR2 (1)	0.01667	1.00000	3.832e-3	4.878e-3	
Bardet-biedl syndrome	TTC8-related ciliopathy	1	1	TTC8 (8)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	Turricephaly	1	1	ZIC1 (6)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	Weiss-kruszka syndrome	1	1	ZNF462 (6)	0.01667	1.00000	3.832e-3	4.878e-3	136
Craniosynostosis	lethal occipital encephalocele-skeletal dysplasia syndrome	1	1	CYP26B1 (2)	0.01667	1.00000	3.832e-3	4.878e-3	
Bardet-biedl syndrome	LZTFL1-related ciliopathy	1	1	LZTFL1 (7)	0.01667	1.00000	3.832e-3	4.878e-3	8
Bardet-biedl syndrome	Sarcotubular myopathy	1	1	TRIM32 (7)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	oligodontia-cancer predisposition syndrome	1	1	AXIN2 (3)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	Opitz g/bbb syndrome	1	1	SPECC1L (2)	0.01667	1.00000	3.832e-3	4.878e-3	
Craniosynostosis	MEGF8-related Carpenter syndrome	1	1	MEGF8 (2)	0.01667	1.00000	3.832e-3	4.878e-3	
Bardet-biedl syndrome	MKKS-related ciliopathy	1	1	MKKS (8)	0.01667	1.00000	3.832e-3	4.878e-3	8
Craniosynostosis	Nasodigitoacoustic syndrome	1	0	GPC4 (1)	0.01667	1.00000	3.832e-3	4.878e-3	
Bardet-biedl syndrome	nephronophthisis 4	1	1	NPHP4 (2)	0.01667	1.00000	3.832e-3	4.878e-3	8
Bardet-biedl syndrome	Heart defect, tongue hamartoma and polysyndactyly	1	1	WDPCP (7)	0.01667	1.00000	3.832e-3	4.878e-3	8
Martsolf syndrome	Parenchymal hematoma	1	1	SEMA3A (2)	0.06250	0.16667	3.891e-3	4.937e-3	
Tricuspid valve disease	Trigeminal nerve disease	1	0	KIF26B (1)	0.06250	0.16667	3.891e-3	4.937e-3	
Angelman syndrome	Synovial disorder	1	1	GABRB3 (3)	0.06250	0.16667	3.891e-3	4.937e-3	
Childhood absence epilepsy	Synovial disorder	1	1	GABRB3 (4)	0.06250	0.16667	3.891e-3	4.937e-3	227
Bile duct disorder	Hypertensive heart disease	1	0	PRKAG2 (1)	0.06250	0.16667	3.891e-3	4.937e-3	
Cholecystitis	Upper extremity fracture	1	0	TMEM132C (1)	0.05882	0.20000	3.891e-3	4.937e-3	
Frontotemporal dementia with or without amyotrophic lateral sclerosis	Paraplegia	1	1	SPG7 (2)	0.05882	0.20000	3.891e-3	4.937e-3	
Glycinuria with/without oxalate urolithiasis	Macular telangiectasia	1	1	SLC6A20 (2)	0.05263	0.25000	3.891e-3	4.937e-3	
Gastro-entero-pancreatic neuroendocrine tumor	MHC class II deficiency	1	1	CIITA (2)	0.05263	0.25000	3.891e-3	4.937e-3	
Autoimmune nervous system disorder	Gastro-entero-pancreatic neuroendocrine tumor	1	1	EOMES (2)	0.05263	0.25000	3.891e-3	4.937e-3	
Coloboma	complex neurodevelopmental disorder with or without congenital anomalies	1	1	MYH10 (2)	0.05263	0.25000	3.891e-3	4.937e-3	
Bulimia	Congenital palmoplantar and perioral keratoderma of olmsted	1	1	PERP (2)	0.04348	0.33333	3.892e-3	4.937e-3	
Bulimia	Olmsted syndrome	1	1	PERP (5)	0.04348	0.33333	3.892e-3	4.937e-3	
Antiphospholipid syndrome	Hepatitis c induced liver cirrhosis	1	0	HLA-DRA (1)	0.04348	0.33333	3.892e-3	4.937e-3	1
Pseudo-torch syndrome	Splenomegaly	1	1	OCLN (6)	0.04348	0.33333	3.892e-3	4.937e-3	
Cerebellar atrophy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	1	1	TYROBP (5)	0.03125	0.50000	3.893e-3	4.937e-3	
Multiple system atrophy	Rib fracture	1	0	TENM2 (1)	0.03125	0.50000	3.893e-3	4.937e-3	168
Congenital cartilage disorder	Smith-mccort dysplasia	1	1	DYM (6)	0.03125	0.50000	3.893e-3	4.937e-3	
Lig4 syndrome	Spondylosis	1	1	LIG4 (5)	0.03125	0.50000	3.893e-3	4.937e-3	360
Burn-mckeown syndrome	Hypomyelinating leukodystrophy	1	1	POLR1A (5)	0.03125	0.50000	3.893e-3	4.937e-3	
Dubowitz syndrome	Spondylosis	1	1	LIG4 (3)	0.03125	0.50000	3.893e-3	4.937e-3	360
Congenital cataract	Deafness with cataract, intellectual disability, and polyneuropathy	1	1	PSMC3 (4)	0.01639	1.00000	3.897e-3	4.937e-3	
ciliary dyskinesia, primary, 54	Frontotemporal dementia	1	1	CFAP54 (2)	0.01639	1.00000	3.897e-3	4.937e-3	119
Cleft palate	cleidocranial dysplasia 2	1	1	CBFB (3)	0.01639	1.00000	3.897e-3	4.937e-3	
Codas syndrome	Congenital cataract	1	1	LONP1 (6)	0.01639	1.00000	3.897e-3	4.937e-3	
Congenital cataract	Congenital cataract severe neonatal hepatopathy developmental delay syndrome	1	1	CYP51A1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	51
B-cell acute lymphoblastic leukemia	Casgid syndrome	1	1	GLS (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Cataract-growth hormone deficiency-skeletal dysplasia syndrome	Congenital cataract	1	1	IARS2 (5)	0.01639	1.00000	3.897e-3	4.937e-3	
Cataract-microcornea-metabolic syndrome	Congenital cataract	1	1	SLC16A12 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Cerebrofaciothoracic dysplasia	Oropharyngeal cancer	1	1	TMCO1 (3)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	Congenital hypogonadotropic hypogonadism	1	1	EMX2 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Congenital malrotation of intestine	Oropharyngeal cancer	1	1	GALNT14 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Cleft palate	Congenital posterior urethral valves	1	1	BNC2 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome	1	1	MYSM1 (3)	0.01639	1.00000	3.897e-3	4.937e-3	
Congenital cataract	Coralliform cataract	1	1	CRYGD (3)	0.01639	1.00000	3.897e-3	4.937e-3	51
Aortic stenosis	bone marrow failure syndrome 4	1	1	MYSM1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome	1	1	HMGB1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome	Frontotemporal dementia	1	1	MEF2C (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Brain abnormalities neurodegeneration dysosteosclerosis	Frontotemporal dementia	1	1	CSF1R (4)	0.01639	1.00000	3.897e-3	4.937e-3	
brain abnormalities, neurodegeneration, and dysosteosclerosis	Frontotemporal dementia	1	1	CSF1R (2)	0.01639	1.00000	3.897e-3	4.937e-3	
ARHGAP29-related non-syndromic orofacial cleft	Cleft palate	1	1	ARHGAP29 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Asplenia	Frontotemporal dementia	1	1	RPSA (3)	0.01639	1.00000	3.897e-3	4.937e-3	
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome	B-cell acute lymphoblastic leukemia	1	1	CEBPE (3)	0.01639	1.00000	3.897e-3	4.937e-3	
Axonal neuropathy	Congenital cataract	1	1	GBF1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
ACAN-related short stature spectrum	Aortic stenosis	1	1	ACAN (2)	0.01639	1.00000	3.897e-3	4.937e-3	
amyotrophic lateral sclerosis type 10	Frontotemporal dementia	1	1	TARDBP (2)	0.01639	1.00000	3.897e-3	4.937e-3	
amyotrophic lateral sclerosis type 12	Frontotemporal dementia	1	1	OPTN (2)	0.01639	1.00000	3.897e-3	4.937e-3	
amyotrophic lateral sclerosis type 9	Frontotemporal dementia	1	1	ANG (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Anomalous pulmonary venous 	Congenital cataract	1	0	PSMC3 (1)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	1	1	PIDD1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
B-cell acute lymphoblastic leukemia	Intracranial germ cell tumor	1	0	BAK1 (1)	0.01639	1.00000	3.897e-3	4.937e-3	
Intracranial germ cell tumor	Testicular carcinoma	1	0	BAK1 (1)	0.01639	1.00000	3.897e-3	4.937e-3	
khan-khan-katsanis syndrome	Testicular carcinoma	1	1	NCAPG2 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
khan-khan-katsanis syndrome	Testicular germ cell tumor	1	1	NCAPG2 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Frontotemporal dementia	leukoencephalopathy, diffuse hereditary, with spheroids 1	1	1	CSF1R (2)	0.01639	1.00000	3.897e-3	4.937e-3	
lysinuric protein intolerance	Oropharyngeal cancer	1	1	SLC7A7 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	Short stature spectrum	1	0	ACAN (1)	0.01639	1.00000	3.897e-3	4.937e-3	
Cleft palate	periventricular nodular heterotopia 7	1	1	NEDD4L (3)	0.01639	1.00000	3.897e-3	4.937e-3	
B-cell acute lymphoblastic leukemia	primary angle-closure glaucoma	1	1	SPATA13 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
B-cell acute lymphoblastic leukemia	pyruvate dehydrogenase E3 deficiency	1	1	DLD (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Cleft palate	renal hypomagnesemia 4	1	1	EGF (3)	0.01639	1.00000	3.897e-3	4.937e-3	
Frontotemporal dementia	ritscher-schinzel syndrome 1	1	1	WASHC5 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	obsolete Carey-Fineman-Ziter syndrome	1	1	MYMK (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Congenital cataract	Oculocerebrorenal syndrome	1	1	OCRL (5)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome	1	1	HMGB1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
B-cell acute lymphoblastic leukemia	hyper-ige syndrome 6, autosomal dominant, with recurrent infections	1	1	STAT6 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
hypercholesterolemia, familial, 4	Oropharyngeal cancer	1	1	LDLRAP1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
immunodeficiency 37	Testicular germ cell tumor	1	1	BCL10 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Frontotemporal dementia	inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	1	1	HNRNPA2B1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
B-cell acute lymphoblastic leukemia	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	1	1	GLS (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Aortic stenosis	Uterine benign neoplasm	1	0	BET1L (1)	0.01639	1.00000	3.897e-3	4.937e-3	
Frontotemporal dementia	frontotemporal dementia and/or amyotrophic lateral sclerosis 5	1	1	CCNF (2)	0.01639	1.00000	3.897e-3	4.937e-3	119
Frontotemporal dementia	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	1	1	CHMP2B (3)	0.01639	1.00000	3.897e-3	4.937e-3	119
Frontotemporal dementia	glaucoma, normal tension, susceptibility to	1	1	OPTN (2)	0.01639	1.00000	3.897e-3	4.937e-3	
B-cell acute lymphoblastic leukemia	Glutaminase deficiency	1	1	GLS (4)	0.01639	1.00000	3.897e-3	4.937e-3	
glutaric acidemia type 3	Testicular carcinoma	1	1	SUGCT (2)	0.01639	1.00000	3.897e-3	4.937e-3	
glutaric acidemia type 3	Testicular germ cell tumor	1	1	SUGCT (2)	0.01639	1.00000	3.897e-3	4.937e-3	
B-cell acute lymphoblastic leukemia	granulocytopenia with immunoglobulin abnormality	1	1	HYOU1 (2)	0.01639	1.00000	3.897e-3	4.937e-3	45
Frontotemporal dementia	hereditary spastic paraplegia 8	1	1	WASHC5 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Frontotemporal dementia	1	1	CSF1R (3)	0.01639	1.00000	3.897e-3	4.937e-3	
Frontotemporal dementia	frontotemporal dementia and/or amyotrophic lateral sclerosis	1	1	GRN (4)	0.01639	1.00000	3.897e-3	4.937e-3	119
Mucosa-associated lymphoma	Testicular germ cell tumor	1	1	BCL10 (2)	0.01639	1.00000	3.897e-3	4.937e-3	
Congenital cataract	nance-horan syndrome	1	1	NHS (2)	0.01639	1.00000	3.897e-3	4.937e-3	51
Color vision deficiency	Ear disorder	2	0	SCML4 (1), COL26A1 (1)	0.00207	1.00000	3.932e-3	4.981e-3	2
Atypical femoral fracture	Nasal polyp	2	0	IL18R1 (1), SLC9A4 (1)	0.02667	0.05405	3.937e-3	4.987e-3	
Autoinflammatory syndrome, familial, behcet-like	Myositis	1	1	TNFAIP3 (5)	0.01613	1.00000	3.962e-3	5.011e-3	22
autosomal systemic lupus erythematosus type 16	Myositis	1	1	DNASE1L3 (2)	0.01613	1.00000	3.962e-3	5.011e-3	22
Casgid syndrome	Myositis	1	1	GLS (2)	0.01613	1.00000	3.962e-3	5.011e-3	
Cerebellar-facial-dental syndrome	Huntington disease	1	1	BRF1 (6)	0.01613	1.00000	3.962e-3	5.011e-3	
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Myositis	1	1	MYH2 (3)	0.01613	1.00000	3.962e-3	5.011e-3	
Chromosome 5q12 deletion syndrome	Myositis	1	1	PDE4D (2)	0.01613	1.00000	3.962e-3	5.011e-3	
developmental and epileptic encephalopathy, 41	Myositis	1	1	SLC1A2 (2)	0.01613	1.00000	3.962e-3	5.011e-3	22
dilated cardiomyopathy 1V	Huntington disease	1	1	PSEN2 (2)	0.01613	1.00000	3.962e-3	5.011e-3	
Congenital brain dysgenesis due to glutamine synthetase deficiency	Huntington disease	1	1	GLUL (5)	0.01613	1.00000	3.962e-3	5.011e-3	
Acetyl-coa carboxylase deficiency	Erectile dysfunction	1	1	ACACA (2)	0.01613	1.00000	3.962e-3	5.011e-3	73
Borderline personality disorder	Pulmonary hypertension	1	1	TPH1 (2)	0.01613	1.00000	3.962e-3	5.011e-3	
familial adenomatous polyposis 4	Huntington disease	1	1	MSH3 (2)	0.01613	1.00000	3.962e-3	5.011e-3	
fibrodysplasia ossificans progressiva	Myositis	1	1	ACVR1 (3)	0.01613	1.00000	3.962e-3	5.011e-3	
Huntington disease	hyper-IgE recurrent infection syndrome 5, autosomal recessive	1	1	IL6R (2)	0.01613	1.00000	3.962e-3	5.011e-3	
infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	Myositis	1	1	GLS (2)	0.01613	1.00000	3.962e-3	5.011e-3	
Pulmonary hypertension	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	1	1	EIF2AK4 (3)	0.01613	1.00000	3.962e-3	5.011e-3	
Huntington disease	Interleukin 6 quantitative trait	1	1	IL6R (3)	0.01613	1.00000	3.962e-3	5.011e-3	
Huntington disease	karyomegalic interstitial nephritis	1	1	FAN1 (2)	0.01613	1.00000	3.962e-3	5.011e-3	
Myositis	Separation anxiety disorder	1	1	DRD4 (2)	0.01613	1.00000	3.962e-3	5.011e-3	
Myositis	spinocerebellar ataxia, autosomal recessive 25	1	1	ATG5 (2)	0.01613	1.00000	3.962e-3	5.011e-3	22
Pulmonary hypertension	telangiectasia, hereditary hemorrhagic, type 2	1	1	ACVRL1 (3)	0.01613	1.00000	3.962e-3	5.011e-3	
Pulmonary hypertension	telangiectasia, hereditary hemorrhagic, type 5	1	1	GDF2 (3)	0.01613	1.00000	3.962e-3	5.011e-3	
Erectile dysfunction	Multiple intestinal atresia	1	1	TTC7A (3)	0.01613	1.00000	3.962e-3	5.011e-3	
myopathy, proximal, and ophthalmoplegia	Myositis	1	1	MYH2 (2)	0.01613	1.00000	3.962e-3	5.011e-3	
Gastroschisis	Huntington disease	1	1	ADD1 (2)	0.01613	1.00000	3.962e-3	5.011e-3	
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Pulmonary hypertension	1	1	GBA1 (4)	0.01613	1.00000	3.962e-3	5.011e-3	
Glutaminase deficiency	Myositis	1	1	GLS (4)	0.01613	1.00000	3.962e-3	5.011e-3	
Auditory neuropathy	Intellectual disability with craniofacial anomalies and cardiac defects	1	0	H1-4 (1)	0.03030	0.50000	4.023e-3	5.082e-3	
Pontocerebellar hypoplasia	propionic acidemia	1	1	PCCA (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Ocular anomalies with axonal neuropathy and developmental delay	Pontocerebellar hypoplasia	1	1	ATAD3A (5)	0.03030	0.50000	4.023e-3	5.082e-3	
Distal spinal muscular atrophy	Odontochondrodysplasia 2 with hearing loss and diabetes	1	1	PLEKHG5 (3)	0.03030	0.50000	4.023e-3	5.082e-3	
Microscopic colitis	Selective iga deficiency disease	1	0	CLEC16A (1)	0.03030	0.50000	4.023e-3	5.082e-3	369
Pituitary stalk interruption syndrome	Uinary system neoplasms	1	1	WDR11 (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Selective iga deficiency disease	Vitreous body disease	1	0	NCKAP5 (1)	0.03030	0.50000	4.023e-3	5.082e-3	
Seborrhea-like dermatitis with psoriasiform elements	Seborrheic keratosis	1	1	TBCD (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Congenital microcephaly	Skraban-deardorff syndrome	1	0	WDR62 (1)	0.03030	0.50000	4.023e-3	5.082e-3	
Distal spinal muscular atrophy	Testis atrophy	1	0	PLEKHG5 (1)	0.03030	0.50000	4.023e-3	5.082e-3	
Bifid uvula	Neural tube defects, x-linked	1	0	GRHL3 (1)	0.03030	0.50000	4.023e-3	5.082e-3	
Bilateral generalized polymicrogyria	Congenital microcephaly	1	1	RTTN (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Hyperplasia	1	1	PRG4 (6)	0.03030	0.50000	4.023e-3	5.082e-3	
Diffuse panbronchiolitis	Membranous glomerulonephritis	1	1	MUCL3 (4)	0.03030	0.50000	4.023e-3	5.082e-3	
Discoid lupus erythematosus	Hyperplasia	1	1	OGG1 (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Auditory neuropathy	Auditory neuropathy with optic atrophy	1	1	FDXR (5)	0.03030	0.50000	4.023e-3	5.082e-3	
Cerebral folate deficiency	Neural tube defects, x-linked	1	1	FOLR1 (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Auditory neuropathy	Charcot-Marie-Tooth disease type 2	1	1	NEFL (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Charcot-Marie-Tooth disease type 2	Distal spinal muscular atrophy	1	1	NEFL (2)	0.03030	0.50000	4.023e-3	5.082e-3	13
Agenesis of corpus callosum	Auditory neuropathy	1	1	CDH2 (2)	0.03030	0.50000	4.023e-3	5.082e-3	
Cochlear diseases	Congenital ear anomaly	1	1	PCDH15 (2)	0.03030	0.50000	4.023e-3	5.082e-3	
autosomal dominant cerebellar ataxia	Moyamoya disease	1	1	NPTX1 (2)	0.01587	1.00000	4.026e-3	5.083e-3	
Aortic aneurysm	Bladder dysfunction	1	1	CHRNA3 (3)	0.01587	1.00000	4.026e-3	5.083e-3	
Aortic aneurysm	aortic valve disease 3	1	1	ROBO4 (2)	0.01587	1.00000	4.026e-3	5.083e-3	
Charcot-Marie-Tooth disease type 4B2	Moyamoya disease	1	1	SBF2 (2)	0.01587	1.00000	4.026e-3	5.083e-3	
Cystic fibrosis	systemic lupus erythematosus, susceptibility to, 1	1	1	TLR5 (2)	0.01587	1.00000	4.026e-3	5.083e-3	
Cystic fibrosis	POLE-related polyposis and colorectal cancer syndrome	1	1	POLE (2)	0.01587	1.00000	4.026e-3	5.083e-3	
glutaric acidemia type 3	Moyamoya disease	1	1	SUGCT (2)	0.01587	1.00000	4.026e-3	5.083e-3	
Aortic aneurysm	Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	1	1	ZPR1 (4)	0.01587	1.00000	4.026e-3	5.083e-3	
Cystic fibrosis	immunodeficiency 97 with autoinflammation	1	1	PIK3CG (2)	0.01587	1.00000	4.026e-3	5.083e-3	
Intestinal dysmotility syndrome	Moyamoya disease	1	1	ANO1 (5)	0.01587	1.00000	4.026e-3	5.083e-3	
Aortic aneurysm	Urinary bladder dysfunction	1	1	CHRNA3 (3)	0.01587	1.00000	4.026e-3	5.083e-3	
Aortic aneurysm	Winchester syndrome	1	1	MMP14 (5)	0.01587	1.00000	4.026e-3	5.083e-3	
microcephalic osteodysplastic primordial dwarfism type II	Moyamoya disease	1	1	PCNT (3)	0.01587	1.00000	4.026e-3	5.083e-3	
Aortic aneurysm	neonatal/infantile epilepsy syndrome	1	1	KCNH5 (2)	0.01587	1.00000	4.026e-3	5.083e-3	50
Androgenetic alopecia	Appendiceal disorder	2	0	MND1 (1), TMEM131L (1)	0.00487	0.50000	4.056e-3	5.120e-3	
Distal renal tubular acidosis	Hypomaturation amelogenesis imperfecta	1	1	WDR72 (2)	0.06250	0.14286	4.085e-3	5.156e-3	
Male infertility testicular dysgenesis	Postaxial polydactyly	1	0	KIF7 (1)	0.04167	0.33333	4.086e-3	5.157e-3	
Beta thalassemia	Dias-logan syndrome	1	1	BCL11A (4)	0.04167	0.33333	4.086e-3	5.157e-3	
Brugada syndrome	dilated cardiomyopathy 1JJ	1	1	LAMA4 (2)	0.01563	1.00000	4.091e-3	5.158e-3	3
Carpal tunnel syndrome	Comp-related skeletal dysplasia	1	1	COMP (5)	0.01563	1.00000	4.091e-3	5.158e-3	
Brugada syndrome	Chromosome 2p16.1-p15 deletion syndrome	1	1	USP34 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	Mouth neoplasms	1	1	HMGCS2 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Carpal tunnel syndrome	Copper metabolism disorder	1	1	CCS (2)	0.01563	1.00000	4.091e-3	5.158e-3	44
Bilateral congenital vertical talus	Mouth neoplasms	1	1	HOXD10 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Brugada syndrome	CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy	1	1	CAMK2D (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Conotruncal cardiac defect	Intellectual developmental disorder short stature behavioral	1	1	IQSEC1 (5)	0.01563	1.00000	4.091e-3	5.158e-3	
Brugada syndrome	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	1	1	MYO18B (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Conotruncal cardiac defect	neonatal/infantile epilepsy syndrome	1	1	KCNH5 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Carpal tunnel syndrome	Schmid metaphyseal chondrodysplasia	1	1	COL10A1 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Hmg-coa synthase deficiency	Mouth neoplasms	1	1	HMGCS2 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Brugada syndrome	hypokalemic alkalosis, familial, with specific renal tubulopathy	1	1	KCNJ16 (2)	0.01563	1.00000	4.091e-3	5.158e-3	3
Intellectual developmental disorder seizures movement	Mouth neoplasms	1	1	PDE2A (4)	0.01563	1.00000	4.091e-3	5.158e-3	
Brugada syndrome	Neurodevelopmental disorder with dilated cardiomyopathy	1	0	CAMK2D (1)	0.01563	1.00000	4.091e-3	5.158e-3	
Mouth neoplasms	trichohepatoenteric syndrome 2	1	1	SKIC2 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Mouth neoplasms	Triose phosphate isomerase deficiency	1	1	TPI1 (6)	0.01563	1.00000	4.091e-3	5.158e-3	
Carpal tunnel syndrome	TTLL5-related retinopathy	1	1	TTLL5 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Mouth neoplasms	Vertical talus	1	1	HOXD10 (2)	0.01563	1.00000	4.091e-3	5.158e-3	
Carpal tunnel syndrome	Woolly hair-palmoplantar keratoderma syndrome	1	1	KANK2 (4)	0.01563	1.00000	4.091e-3	5.158e-3	
Connective tissue neoplasm	Machado-joseph disease	1	0	THSD7B (1)	0.06250	0.12500	4.150e-3	5.231e-3	
Congenital chloride diarrhea	Hydrops fetalis	1	1	SLC26A3 (3)	0.05000	0.25000	4.150e-3	5.231e-3	
Male reproductive system disease	Pulmonary edema	1	0	MYRIP (1)	0.05000	0.25000	4.150e-3	5.231e-3	
Hyperemesis gravidarum	Thyroiditis	1	0	PPM1H (1)	0.05000	0.25000	4.150e-3	5.231e-3	
Gastrointestinal disease	Intellectual developmental disorder autism dysmorphic	1	1	CHD8 (5)	0.02941	0.50000	4.152e-3	5.231e-3	
Ectodermal dysplasia	X-linked hypohidrotic ectodermal dysplasia	1	1	EDA (4)	0.02941	0.50000	4.152e-3	5.231e-3	76
Esophageal atresia	Rib fracture	1	1	TENM2 (2)	0.02941	0.50000	4.152e-3	5.231e-3	
Congenital epithelial dysplasia of intestine	Hereditary breast cancer	1	1	EPCAM (2)	0.02941	0.50000	4.152e-3	5.231e-3	
Congenital nervous system disorder	Esophageal atresia	1	1	DROSHA (2)	0.02941	0.50000	4.152e-3	5.231e-3	
Breast fibrocystic disease	Coronary aneurysm	1	0	CSMD1 (1)	0.02941	0.50000	4.152e-3	5.231e-3	
Carbohydrate deficient glycoprotein syndrome	Coronary aneurysm	1	1	MAN1B1 (2)	0.02941	0.50000	4.152e-3	5.231e-3	
Childhood kidney wilms tumor	Wilms tumor	1	1	TRIM28 (2)	0.02941	0.50000	4.152e-3	5.231e-3	
Dalmatian hypouricemia	Hyperuricemia	1	1	SLC22A12 (2)	0.01538	1.00000	4.156e-3	5.233e-3	180
Hyperuricemia	renal dysplasia, cystic, susceptibility to	1	1	BICC1 (2)	0.01538	1.00000	4.156e-3	5.233e-3	
Kawasaki disease	Vici syndrome	1	1	EPG5 (5)	0.01538	1.00000	4.156e-3	5.233e-3	
Hyperuricemia	maple syrup urine disease, mild variant	1	1	PPM1K (2)	0.01538	1.00000	4.156e-3	5.233e-3	
Hyperuricemia	lesch-nyhan syndrome	1	1	HPRT1 (4)	0.01538	1.00000	4.156e-3	5.233e-3	
Kawasaki disease	thrombocytopenia 10	1	1	PTPRJ (2)	0.01538	1.00000	4.156e-3	5.233e-3	
Kawasaki disease	Opitz g/bbb syndrome	1	1	SPECC1L (2)	0.01538	1.00000	4.156e-3	5.233e-3	
Hyperuricemia	Osteomalacia	1	1	MEPE (3)	0.01538	1.00000	4.156e-3	5.233e-3	180
Hyperuricemia	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	1	1	HPRT1 (4)	0.01538	1.00000	4.156e-3	5.233e-3	
Byzanthine arch palate	Malocclusion	1	0	PTK2 (1)	0.05556	0.20000	4.215e-3	5.306e-3	
exostoses, multiple, type 1	Generalized epilepsy	1	1	EXT1 (2)	0.01515	1.00000	4.221e-3	5.313e-3	
Generalized epilepsy	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	1	1	GLS (2)	0.01515	1.00000	4.221e-3	5.313e-3	
Generalized epilepsy	Glutaminase deficiency	1	1	GLS (4)	0.01515	1.00000	4.221e-3	5.313e-3	
Generalized epilepsy	hermansky-pudlak syndrome 4	1	1	HPS4 (2)	0.01515	1.00000	4.221e-3	5.313e-3	
neurodevelopmental disorder with language impairment and behavioral abnormalities	Rhinitis	1	1	GRIA2 (3)	0.01515	1.00000	4.221e-3	5.313e-3	
Casgid syndrome	Generalized epilepsy	1	1	GLS (2)	0.01515	1.00000	4.221e-3	5.313e-3	
Axonal neuropathy	Generalized epilepsy	1	0	GBF1 (1)	0.01515	1.00000	4.221e-3	5.313e-3	
Auditory system disease	Trigeminal nerve disease	1	0	DCHS2 (1)	0.05882	0.16667	4.279e-3	5.381e-3	
Bladder disease	Gastritis	1	0	ZNF385B (1)	0.04000	0.33333	4.280e-3	5.381e-3	
Congenital muscular dystrophy	Marinesco-sjogren syndrome	1	1	INPP5K (4)	0.04000	0.33333	4.280e-3	5.381e-3	
Osteochondrodysplasias	Smith-mccort dysplasia	1	1	DYM (6)	0.02857	0.50000	4.282e-3	5.381e-3	
Intestinal hypomagnesemia	Rod-cone dystrophy	1	1	TRPM6 (3)	0.02857	0.50000	4.282e-3	5.381e-3	
Lymphatic system disease	Temporal lobe epilepsy	1	1	SLC12A2 (3)	0.02857	0.50000	4.282e-3	5.381e-3	
Bronchitis	Male infertility acephalic spermatozoa	1	1	PMFBP1 (2)	0.02857	0.50000	4.282e-3	5.381e-3	
Congenital cerebellar ataxia	Temporal lobe epilepsy	1	1	GRM1 (3)	0.02857	0.50000	4.282e-3	5.381e-3	
Conjunctival disease	Transitional cell carcinoma	1	1	DAPK1 (2)	0.02857	0.50000	4.282e-3	5.381e-3	
17q24.2 microdeletion syndrome	Sarcoma	1	1	BPTF (3)	0.02857	0.50000	4.282e-3	5.381e-3	
Alpha-methylacyl-coa racemase deficiency	Hereditary motor and sensory neuropathies	1	1	AMACR (3)	0.01493	1.00000	4.286e-3	5.381e-3	
Antecubital pterygium syndrome	Urinary bladder cancer	1	1	PSD3 (3)	0.01493	1.00000	4.286e-3	5.381e-3	
Brachial plexus neuritis	Hereditary motor and sensory neuropathies	1	1	SEPTIN9 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Brain calcification	Interstitial lung disease	1	1	FARSB (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Breast/nipple aplasia or hypoplasia	Left ventricular disease	1	1	PTPRF (5)	0.01493	1.00000	4.286e-3	5.381e-3	
dilated cardiomyopathy 1CC	Left ventricular disease	1	1	NEXN (2)	0.01493	1.00000	4.286e-3	5.381e-3	3
dilated cardiomyopathy 1Y	Left ventricular disease	1	1	TPM1 (4)	0.01493	1.00000	4.286e-3	5.381e-3	3
cardiomyopathy, dilated, 2e	Left ventricular disease	1	1	JPH2 (2)	0.01493	1.00000	4.286e-3	5.381e-3	3
Cavitary optic disc anomalies	Interstitial lung disease	1	1	MMP19 (3)	0.01493	1.00000	4.286e-3	5.381e-3	
Charcot-Marie-Tooth disease axonal type 2CC	Hereditary motor and sensory neuropathies	1	1	NEFH (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Charcot-Marie-Tooth disease axonal type 2P	Hereditary motor and sensory neuropathies	1	1	LRSAM1 (2)	0.01493	1.00000	4.286e-3	5.381e-3	13
Charcot-Marie-Tooth disease axonal type 2Z	Hereditary motor and sensory neuropathies	1	1	MORC2 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Barth syndrome	Left ventricular disease	1	1	TAFAZZIN (5)	0.01493	1.00000	4.286e-3	5.381e-3	3
Atopic dermatitis	combined immunodeficiency due to DOCK8 deficiency	1	1	DOCK8 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Congenital absence of breast with absent nipple	Left ventricular disease	1	0	PTPRF (1)	0.01493	1.00000	4.286e-3	5.381e-3	
Congenital cataract microcephaly intellectual disability syndrome	Hereditary motor and sensory neuropathies	1	1	MED25 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Interstitial lung disease	interstitial lung disease 1	1	1	SFTPA1 (5)	0.01493	1.00000	4.286e-3	5.381e-3	
Interstitial lung disease	interstitial lung disease 2	1	1	SFTPA2 (5)	0.01493	1.00000	4.286e-3	5.381e-3	
Interstitial lung disease	isovaleric acidemia	1	1	IVD (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Interstitial lung disease	Laryngo-onycho-cutaneous syndrome	1	1	LAMA3 (5)	0.01493	1.00000	4.286e-3	5.381e-3	
Hereditary motor and sensory neuropathies	neuropathy, hereditary motor and sensory, type 6B	1	1	SLC25A46 (3)	0.01493	1.00000	4.286e-3	5.381e-3	
Hereditary motor and sensory neuropathies	neuropathy, hereditary sensory and autonomic, type 2A	1	1	WNK1 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Left ventricular disease	neutral lipid storage myopathy	1	1	PNPLA2 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Atopic dermatitis	hyper-ige syndrome 6, autosomal dominant, with recurrent infections	1	1	STAT6 (3)	0.01493	1.00000	4.286e-3	5.381e-3	
Atopic dermatitis	Ichthyosis vulgaris	1	1	FLG (4)	0.01493	1.00000	4.286e-3	5.381e-3	
Interstitial lung disease	primary ciliary dyskinesia 28	1	1	SPAG1 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Interstitial lung disease	Respiratory distress with surfactant metabolism deficiency	1	1	SFTPC (5)	0.01493	1.00000	4.286e-3	5.381e-3	
Atopic dermatitis	Uric acid urolithiasis	1	1	ZNF365 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Hereditary motor and sensory neuropathies	X-linked hereditary motor and sensory neuropathy	1	0	DRP2 (1)	0.01493	1.00000	4.286e-3	5.381e-3	13
familial isolated arrhythmogenic right ventricular dysplasia	Left ventricular disease	1	1	DSC2 (2)	0.01493	1.00000	4.286e-3	5.381e-3	3
Interstitial lung disease	SFTPC-related interstitial lung disease	1	1	SFTPC (5)	0.01493	1.00000	4.286e-3	5.381e-3	
hermansky-pudlak syndrome 4	Interstitial lung disease	1	1	HPS4 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
hermansky-pudlak syndrome 7	Interstitial lung disease	1	1	DTNBP1 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Hereditary motor and sensory neuropathies	Neuralgic amyotrophy	1	1	SEPTIN9 (3)	0.01493	1.00000	4.286e-3	5.381e-3	
neurodegeneration with brain iron accumulation 4	Urinary bladder cancer	1	1	C19orf12 (2)	0.01493	1.00000	4.286e-3	5.381e-3	
Hirschsprung disease	Mowat-wilson syndrome	1	1	ZEB2 (7)	0.01471	1.00000	4.351e-3	5.453e-3	
Hirschsprung disease	Mucoepithelial dysplasia	1	1	SREBF1 (4)	0.01471	1.00000	4.351e-3	5.453e-3	
Macular degeneration	trichohepatoenteric syndrome 2	1	1	SKIC2 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Hirschsprung disease	Urban-schosser-spohr syndrome	1	1	SREBF1 (3)	0.01471	1.00000	4.351e-3	5.453e-3	
macrothrombocytopenia, isolated, 1, autosomal dominant	Meniere disease	1	1	TUBB1 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Hirschsprung disease	oligodontia-cancer predisposition syndrome	1	1	AXIN2 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Meniere disease	Peripheral neuropathy myopathy hoarseness hearing loss syndrome	1	1	MYH14 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Meniere disease	Peripheral neuropathy, myopathy, hoarseness, and hearing	1	1	MYH14 (4)	0.01471	1.00000	4.351e-3	5.453e-3	
Macular degeneration	RLBP1-related retinopathy	1	1	RLBP1 (3)	0.01471	1.00000	4.351e-3	5.453e-3	
glycogen storage disease III	Meniere disease	1	1	AGL (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Macular degeneration	Schmid metaphyseal chondrodysplasia	1	1	COL10A1 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Hirschsprung disease	schuurs-hoeijmakers syndrome	1	1	PACS1 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Meniere disease	Short stature spectrum	1	1	ACAN (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Macular degeneration	sorsby fundus dystrophy	1	1	TIMP3 (3)	0.01471	1.00000	4.351e-3	5.453e-3	
Hirschsprung disease	TMEM165-congenital disorder of glycosylation	1	1	TMEM165 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Macular degeneration	TOPORS-related retinopathy	1	1	TOPORS (2)	0.01471	1.00000	4.351e-3	5.453e-3	
CNGA3-related retinopathy	Macular degeneration	1	1	CNGA3 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Cohen syndrome	Meniere disease	1	1	VPS13B (8)	0.01471	1.00000	4.351e-3	5.453e-3	
combined immunodeficiency due to LRBA deficiency	Meniere disease	1	1	LRBA (2)	0.01471	1.00000	4.351e-3	5.453e-3	
dilated cardiomyopathy 1W	Hirschsprung disease	1	1	VCL (2)	0.01471	1.00000	4.351e-3	5.453e-3	
ACAN-related short stature spectrum	Meniere disease	1	1	ACAN (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Bothnia retinal dystrophy	Macular degeneration	1	1	RLBP1 (6)	0.01471	1.00000	4.351e-3	5.453e-3	
Atrial tachyarrhythmia, infra-hisian cardiac conduction disease	Meniere disease	1	0	TNNI3K (1)	0.01471	1.00000	4.351e-3	5.453e-3	
Autoinflammation with arthritis and dyskeratosis	Hypotension	1	1	NLRP1 (5)	0.01471	1.00000	4.351e-3	5.453e-3	
BBS10-related ciliopathy	Macular degeneration	1	1	BBS10 (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Hypotension	1	1	NLRP1 (4)	0.01471	1.00000	4.351e-3	5.453e-3	
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	Hirschsprung disease	1	1	PHOX2B (4)	0.01471	1.00000	4.351e-3	5.453e-3	331
Chromosome 17p13.3 microdeletion syndrome	Hirschsprung disease	1	1	YWHAE (2)	0.01471	1.00000	4.351e-3	5.453e-3	
Anauxetic dysplasia	Prion disease	1	1	POP1 (6)	0.04762	0.25000	4.409e-3	5.525e-3	
Bronchiectasis	Obstructive azoospermia	1	1	CFTR (4)	0.04762	0.25000	4.409e-3	5.525e-3	
Growth hormone deficiency	Uinary system neoplasms	1	1	WDR11 (2)	0.02778	0.50000	4.411e-3	5.525e-3	
Sepsis	Whim syndrome	1	1	CXCR2 (5)	0.02778	0.50000	4.411e-3	5.525e-3	
Sepsis	X-linked lymphoproliferative syndrome	1	1	XIAP (4)	0.02778	0.50000	4.411e-3	5.525e-3	
Hepatic veno occlusive disease with immunodeficiency	Lymphocytic b-cell leukemia	1	1	SP140 (2)	0.02778	0.50000	4.411e-3	5.525e-3	
Panic disorder	Periventricular leukomalacia	1	1	PLEKHG1 (2)	0.02778	0.50000	4.411e-3	5.525e-3	
Congenital chronic diarrhea with protein-losing enteropathy	Triple negative breast cancer	1	1	PLVAP (3)	0.02778	0.50000	4.411e-3	5.525e-3	
Albinism	Bone fracture	1	1	TPCN2 (2)	0.01449	1.00000	4.416e-3	5.525e-3	
Bone fracture	Caudal duplication anomaly	1	1	AXIN1 (6)	0.01449	1.00000	4.416e-3	5.525e-3	
Childhood-onset sensorineural hearing impairment	Combined oxidative phosphorylation deficiency	1	1	PRORP (4)	0.01449	1.00000	4.416e-3	5.525e-3	
Chondrodysplasia-difference of sex development syndrome	Nervous system disease	1	1	HHAT (2)	0.01449	1.00000	4.416e-3	5.525e-3	
Chondrodysplasia-pseudohypohermaphroditism syndrome	Nervous system disease	1	1	HHAT (2)	0.01449	1.00000	4.416e-3	5.525e-3	
Bone fracture	developmental delay, impaired speech, and behavioral abnormalities	1	1	SPTBN1 (2)	0.01449	1.00000	4.416e-3	5.525e-3	
Dubin-johnson syndrome	Nervous system disease	1	1	ABCC2 (6)	0.01449	1.00000	4.416e-3	5.525e-3	
Bone fracture	Craniometadiaphyseal osteosclerosis with hip dysplasia	1	1	AXIN1 (4)	0.01449	1.00000	4.416e-3	5.525e-3	
brain dopamine-serotonin vesicular transport disease	Nervous system disease	1	1	SLC18A2 (3)	0.01449	1.00000	4.416e-3	5.525e-3	
Combined oxidative phosphorylation deficiency	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	1	1	VARS1 (3)	0.01449	1.00000	4.416e-3	5.525e-3	
Dermatologic disorder	optic atrophy 13 with retinal and foveal abnormalities	1	1	SSBP1 (2)	0.01449	1.00000	4.416e-3	5.525e-3	16
Bone fracture	Parkinsonism with polyneuropathy	1	1	UQCRC1 (4)	0.01449	1.00000	4.416e-3	5.525e-3	303
Combined oxidative phosphorylation deficiency	Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay	1	1	TRMT5 (6)	0.01449	1.00000	4.416e-3	5.525e-3	62
Combined oxidative phosphorylation deficiency	Spastic ataxia with leukoencephalopathy	1	1	MARS2 (6)	0.01449	1.00000	4.416e-3	5.525e-3	
Bone fracture	temtamy preaxial brachydactyly syndrome	1	1	CHSY1 (2)	0.01449	1.00000	4.416e-3	5.525e-3	303
Bone fracture	Tolchin-le caignec syndrome	1	1	SOX6 (4)	0.01449	1.00000	4.416e-3	5.525e-3	
hyperprolinemia type 1	Nervous system disease	1	1	PRODH (3)	0.01449	1.00000	4.416e-3	5.525e-3	
Dermatologic disorder	Intellectual developmental disorder language neurodegenerative	1	1	NR4A2 (4)	0.01449	1.00000	4.416e-3	5.525e-3	
mucopolysaccharidosis type 7	Nervous system disease	1	1	GUSB (3)	0.01449	1.00000	4.416e-3	5.525e-3	
Bone fracture	Mucosulfatidosis	1	1	SUMF1 (3)	0.01449	1.00000	4.416e-3	5.525e-3	
Combined oxidative phosphorylation deficiency	nephrotic syndrome, type 21	1	1	AVIL (2)	0.01449	1.00000	4.416e-3	5.525e-3	
Combined oxidative phosphorylation deficiency	Hepatoencephalopathy due to combined oxidative phosphorylation defect	1	1	GFM1 (6)	0.01449	1.00000	4.416e-3	5.525e-3	
Folic acid deficiency	Nervous system disease	1	1	DHFR (2)	0.01449	1.00000	4.416e-3	5.525e-3	
Nervous system disease	Vitamin e deficiency	1	1	TTPA (4)	0.01449	1.00000	4.416e-3	5.525e-3	
Congenital impairment of spermatozoa motility	Synovial sarcoma	1	1	SSX1 (2)	0.03846	0.33333	4.475e-3	5.598e-3	11
Hypertryptophanemia	Non-organic psychosis	1	1	TDO2 (6)	0.01429	1.00000	4.481e-3	5.601e-3	
inherited pseudoxanthoma elasticum	Urolithiasis	1	1	ABCC6 (2)	0.01429	1.00000	4.481e-3	5.601e-3	
Intellectual developmental disorder hypotonia spastic sleep	Non-organic psychosis	1	1	ANK3 (3)	0.01429	1.00000	4.481e-3	5.601e-3	
Non-organic psychosis	pediatric systemic lupus erythematosus	1	1	SAT1 (2)	0.01429	1.00000	4.481e-3	5.601e-3	
Intellectual disability, anterior maxillary protrusion, and strabismus	Non-organic psychosis	1	1	SOBP (2)	0.01429	1.00000	4.481e-3	5.601e-3	
familial hypertryptophanemia	Non-organic psychosis	1	1	TDO2 (2)	0.01429	1.00000	4.481e-3	5.601e-3	
microcephalic osteodysplastic primordial dwarfism type II	Non-organic psychosis	1	1	PCNT (2)	0.01429	1.00000	4.481e-3	5.601e-3	
cardiomyopathy, dilated, 2g	Non-organic psychosis	1	1	LMOD2 (2)	0.01429	1.00000	4.481e-3	5.601e-3	
Cirrhosis dystonia polycythemia hypermanganesemia syndrome	Urolithiasis	1	1	SLC30A10 (2)	0.01429	1.00000	4.481e-3	5.601e-3	
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	Urolithiasis	1	1	SLC30A10 (2)	0.01429	1.00000	4.481e-3	5.601e-3	
Cohen syndrome	Urolithiasis	1	1	VPS13B (8)	0.01429	1.00000	4.481e-3	5.601e-3	
2,8-dihydroxyadenine urolithiasis	Urolithiasis	1	1	APRT (2)	0.01429	1.00000	4.481e-3	5.601e-3	
3-hydroxyisobutyric aciduria	Urolithiasis	1	1	HIBADH (3)	0.01429	1.00000	4.481e-3	5.601e-3	180
Adenine phosphoribosyltransferase deficiency	Urolithiasis	1	1	APRT (3)	0.01429	1.00000	4.481e-3	5.601e-3	
Anterior maxillary protrusion-strabismus-intellectual disability syndrome	Non-organic psychosis	1	1	SOBP (2)	0.01429	1.00000	4.481e-3	5.601e-3	
atypical glycine encephalopathy	Non-organic psychosis	1	1	SLC6A9 (2)	0.01429	1.00000	4.481e-3	5.601e-3	
Dwarfism	Thyroid dyshormonogenesis	1	1	TG (5)	0.05882	0.14286	4.538e-3	5.665e-3	
Omenn syndrome	Proteasome associated autoinflammatory syndrome	1	1	PSMB10 (5)	0.05882	0.14286	4.538e-3	5.665e-3	
Congenital epicanthus	Malocclusion	1	0	PTK2 (1)	0.05263	0.20000	4.538e-3	5.665e-3	
Diabetic foot	Intestinal disease	1	0	MAPK14 (1)	0.05263	0.20000	4.538e-3	5.665e-3	
autosomal recessive limb-girdle muscular dystrophy	Dowling degos disease	1	1	POGLUT1 (7)	0.05263	0.20000	4.538e-3	5.665e-3	
Arginine vasopressin resistance	Growth disorder	1	1	AVPR2 (2)	0.02703	0.50000	4.541e-3	5.665e-3	
Congenital stromal corneal dystrophy	Esophageal adenocarcinoma	1	1	SPARCL1 (2)	0.02703	0.50000	4.541e-3	5.665e-3	
Growth disorder	Thyroid hormone metabolism disorder	1	1	SECISBP2 (4)	0.02703	0.50000	4.541e-3	5.665e-3	
Spastic ataxia	Spastic ataxia of charlevoix-saguenay	1	1	SACS (4)	0.01408	1.00000	4.546e-3	5.665e-3	
Spastic ataxia	Spastic ataxia optic atrophy dysarthria syndrome	1	1	MTPAP (6)	0.01408	1.00000	4.546e-3	5.665e-3	92
Spastic ataxia	Spastic ataxia with leukoencephalopathy	1	1	MARS2 (4)	0.01408	1.00000	4.546e-3	5.665e-3	
Spastic ataxia	spinocerebellar ataxia type 42	1	1	CACNA1G (2)	0.01408	1.00000	4.546e-3	5.665e-3	92
Brain ischemia	thrombocytopenia 4	1	1	CYCS (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Status epilepticus	thrombocytopenia 6	1	1	SRC (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Congenital heart defects	MKKS-related ciliopathy	1	1	MKKS (2)	0.01408	1.00000	4.546e-3	5.665e-3	
mucopolysaccharidosis type 3B	Spastic ataxia	1	1	NAGLU (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Multiple epiphyseal dysplasia with early-onset diabetes mellitus	Status epilepticus	1	1	EIF2AK3 (3)	0.01408	1.00000	4.546e-3	5.665e-3	
neurodegeneration with brain iron accumulation 4	Spastic ataxia	1	1	C19orf12 (2)	0.01408	1.00000	4.546e-3	5.665e-3	
pyridoxal phosphate-responsive seizures	Status epilepticus	1	1	PNPO (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Pyridoxamine 5'-phosphate oxidase deficiency	Status epilepticus	1	1	PNPO (3)	0.01408	1.00000	4.546e-3	5.665e-3	
neurodevelopmental disorder with language impairment and behavioral abnormalities	Status epilepticus	1	1	GRIA2 (3)	0.01408	1.00000	4.546e-3	5.665e-3	
neuropathy, hereditary motor and sensory, type 6B	Spastic ataxia	1	1	SLC25A46 (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Oxysterol accumulation disorder	Spastic ataxia	1	1	CYP7B1 (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Congenital heart defects	White-kernohan syndrome	1	1	DDB1 (4)	0.01408	1.00000	4.546e-3	5.665e-3	41
Status epilepticus	Wolcott-rallison syndrome	1	1	EIF2AK3 (4)	0.01408	1.00000	4.546e-3	5.665e-3	
hypomyelinating leukodystrophy 2	Spastic ataxia	1	1	GJC2 (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Hypersensitivity	immunodeficiency 63 with lymphoproliferation and autoimmunity	1	1	IL2RB (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Brain ischemia	inflammatory bowel disease 25	1	1	IL10RB (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Congenital heart defects	Intellectual developmental disorder hypotonia behavioral	1	1	CDK8 (4)	0.01408	1.00000	4.546e-3	5.665e-3	
Intellectual developmental disorder hypotonia spastic sleep	Status epilepticus	1	1	ANK3 (4)	0.01408	1.00000	4.546e-3	5.665e-3	
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	Spastic ataxia	1	1	AFG3L2 (6)	0.01408	1.00000	4.546e-3	5.665e-3	
Congenital heart defects	Gestational trophoblastic disease	1	0	POU5F1 (1)	0.01408	1.00000	4.546e-3	5.665e-3	
Congenital heart defects	H syndrome	1	1	SLC29A3 (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Congenital heart defects	HAND2 related congenital heart defect	1	1	HAND2 (3)	0.01408	1.00000	4.546e-3	5.665e-3	
hereditary spastic paraplegia 11	Spastic ataxia	1	1	SPG11 (2)	0.01408	1.00000	4.546e-3	5.665e-3	
hereditary spastic paraplegia 35	Spastic ataxia	1	1	FA2H (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Congenital heart defect, intellectual disability, facial dysmorphism syndrome	Congenital heart defects	1	0	CDK13 (1)	0.01408	1.00000	4.546e-3	5.665e-3	
cleidocranial dysplasia 2	Congenital heart defects	1	1	CBFB (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Common atrium	Congenital heart defects	1	0	CDK8 (1)	0.01408	1.00000	4.546e-3	5.665e-3	
Bosley-salih-alorainy syndrome	Congenital heart defects	1	1	HOXA1 (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome	Status epilepticus	1	1	MEF2C (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Cerebellar-facial-dental syndrome	Congenital heart defects	1	1	BRF1 (5)	0.01408	1.00000	4.546e-3	5.665e-3	
Chondromyxoid fibroma	Status epilepticus	1	1	GRM1 (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect	Spastic ataxia	1	1	SACS (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Athabaskan brainstem dysgenesis	Congenital heart defects	1	1	HOXA1 (4)	0.01408	1.00000	4.546e-3	5.665e-3	
Acrokeratosis verruciformis	Status epilepticus	1	1	ATP2A2 (3)	0.01408	1.00000	4.546e-3	5.665e-3	
AFG3L2-related optic atrophy and/or spastic ataxia spectrum	Spastic ataxia	1	1	AFG3L2 (6)	0.01408	1.00000	4.546e-3	5.665e-3	
agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Status epilepticus	1	1	CDH2 (3)	0.01408	1.00000	4.546e-3	5.665e-3	
Alpha-methylacyl-coa racemase deficiency	Spastic ataxia	1	1	AMACR (3)	0.01408	1.00000	4.546e-3	5.665e-3	
CYP7B1-related disorder of oxysterol accumulation	Spastic ataxia	1	1	CYP7B1 (2)	0.01408	1.00000	4.546e-3	5.665e-3	
Danon disease	Status epilepticus	1	1	LAMP2 (6)	0.01408	1.00000	4.546e-3	5.665e-3	
Developmental delay with overweight and facial dysmorphism	Status epilepticus	1	1	SRRM2 (2)	0.01408	1.00000	4.546e-3	5.665e-3	63
Dubin-johnson syndrome	Status epilepticus	1	1	ABCC2 (6)	0.01408	1.00000	4.546e-3	5.665e-3	
Corneal astigmatism	Deeah syndrome	1	1	MADD (4)	0.01389	1.00000	4.611e-3	5.730e-3	16
Developmental delay with intellectual disability and obesity	Sjogren syndrome	1	1	PHIP (4)	0.01389	1.00000	4.611e-3	5.730e-3	
Corneal astigmatism	Diaphanospondylodysostosis	1	1	BMPER (6)	0.01389	1.00000	4.611e-3	5.730e-3	16
diencephalic-mesencephalic junction dysplasia syndrome 2	Motor neuron disease	1	1	GSX2 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Congenital posterior urethral valves	Corneal astigmatism	1	1	BNC2 (2)	0.01389	1.00000	4.611e-3	5.730e-3	16
Ciliopathy	cone-rod dystrophy 20	1	1	POC1B (3)	0.01389	1.00000	4.611e-3	5.730e-3	
Ciliopathy	Congenital cerebral hernia	1	1	PIBF1 (3)	0.01389	1.00000	4.611e-3	5.730e-3	8
Congenital ectodermal dysplasia of face	Sjogren syndrome	1	1	TWIST2 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
3-methylglutaconic aciduria type 8	Motor neuron disease	1	1	HTRA2 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Ablepharon macrostomia syndrome	Sjogren syndrome	1	1	TWIST2 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Abri amyloidosis	Cerebral amyloid angiopathy	1	1	ITM2B (3)	0.01389	1.00000	4.611e-3	5.730e-3	
Acys amyloidosis	Cerebral amyloid angiopathy	1	1	CST3 (4)	0.01389	1.00000	4.611e-3	5.730e-3	
Acys amyloidosis	Motor neuron disease	1	1	CST3 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
ALS2-related motor neuron disease	Motor neuron disease	1	1	ALS2 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
amyotrophic lateral sclerosis type 12	Motor neuron disease	1	1	OPTN (2)	0.01389	1.00000	4.611e-3	5.730e-3	
CEP164-related ciliopathy	Ciliopathy	1	1	CEP164 (2)	0.01389	1.00000	4.611e-3	5.730e-3	8
Charcot-Marie-Tooth disease axonal type 2CC	Motor neuron disease	1	1	NEFH (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Chung-jansen syndrome	Sjogren syndrome	1	1	PHIP (4)	0.01389	1.00000	4.611e-3	5.730e-3	
Autoinflammatory syndrome, familial, behcet-like	Sjogren syndrome	1	1	TNFAIP3 (5)	0.01389	1.00000	4.611e-3	5.730e-3	22
autosomal recessive osteopetrosis 3	Sjogren syndrome	1	1	CA2 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Axial spondylometaphyseal dysplasia	Ciliopathy	1	1	CFAP410 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
Barber-say syndrome	Sjogren syndrome	1	1	TWIST2 (7)	0.01389	1.00000	4.611e-3	5.730e-3	
BBS1-related ciliopathy	Ciliopathy	1	1	BBS1 (2)	0.01389	1.00000	4.611e-3	5.730e-3	8
BBS12-related ciliopathy	Ciliopathy	1	1	BBS12 (2)	0.01389	1.00000	4.611e-3	5.730e-3	8
BBS2-related ciliopathy	Ciliopathy	1	1	BBS2 (2)	0.01389	1.00000	4.611e-3	5.730e-3	8
BBS4-related ciliopathy	Ciliopathy	1	1	BBS4 (2)	0.01389	1.00000	4.611e-3	5.730e-3	8
BBS7-related ciliopathy	Ciliopathy	1	1	BBS7 (2)	0.01389	1.00000	4.611e-3	5.730e-3	8
glaucoma, normal tension, susceptibility to	Motor neuron disease	1	1	OPTN (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Ciliopathy	Heart defect, tongue hamartoma and polysyndactyly	1	1	WDPCP (6)	0.01389	1.00000	4.611e-3	5.730e-3	8
Corneal astigmatism	hermansky-pudlak syndrome 7	1	1	DTNBP1 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Cerebral amyloid angiopathy	Uridine-cytidineuria	1	1	SLC28A1 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
Motor neuron disease	X-linked lymphoproliferative disease due to XIAP deficiency	1	1	XIAP (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Ciliopathy	Yuksel-vogel-bauer syndrome	1	1	DLG5 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	Sjogren syndrome	1	1	PHIP (4)	0.01389	1.00000	4.611e-3	5.730e-3	
Corneal astigmatism	renal dysplasia, cystic, susceptibility to	1	1	BICC1 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Ciliopathy	Retinitis pigmentosa with or without situs inversus	1	1	ARL2BP (5)	0.01389	1.00000	4.611e-3	5.730e-3	8
Motor neuron disease	severe combined immunodeficiency due to LAT deficiency	1	1	LAT (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Ciliopathy	short-rib thoracic dysplasia 19 with or without polydactyly	1	1	IFT81 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
Motor neuron disease	T-B+ severe combined immunodeficiency due to JAK3 deficiency	1	1	JAK3 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Corneal astigmatism	temtamy preaxial brachydactyly syndrome	1	1	CHSY1 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Ciliopathy	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	1	1	KIF11 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
Corneal astigmatism	neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	1	1	TNR (2)	0.01389	1.00000	4.611e-3	5.730e-3	16
Cerebral amyloid angiopathy	Familial danish dementia	1	1	ITM2B (3)	0.01389	1.00000	4.611e-3	5.730e-3	
Cerebral amyloid angiopathy	leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	1	1	CST3 (3)	0.01389	1.00000	4.611e-3	5.730e-3	
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	Motor neuron disease	1	1	CST3 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Ciliopathy	LZTFL1-related ciliopathy	1	1	LZTFL1 (2)	0.01389	1.00000	4.611e-3	5.730e-3	8
Cerebral amyloid angiopathy	immunodeficiency 122	1	1	POLD3 (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Cerebral amyloid angiopathy	immunodeficiency 53	1	1	RELB (2)	0.01389	1.00000	4.611e-3	5.730e-3	
Pernicious anemia	Splenic disease	1	0	CNTN5 (1)	0.05882	0.12500	4.667e-3	5.784e-3	
Male infertility large polyploid spermatozoa	Spermatogenic failure, x-linked	1	1	CFAP47 (6)	0.05882	0.12500	4.667e-3	5.784e-3	11
autosomal dominant nonsyndromic hearing loss	Machado-joseph disease	1	1	ATP11A (2)	0.05882	0.12500	4.667e-3	5.784e-3	
Body mass index	Venous insufficiency	1	1	FTO (3)	0.05882	0.12500	4.667e-3	5.784e-3	
Complex regional pain syndrome	Nocturnal frontal lobe epilepsy	1	1	SPAG1 (2)	0.05882	0.12500	4.667e-3	5.784e-3	
complex neurodevelopmental disorder with motor features	Specific learning disability	1	1	KMT2B (2)	0.05556	0.16667	4.668e-3	5.784e-3	
Bone remodeling disease	Parenchymal hematoma	1	0	PDZRN4 (1)	0.05556	0.16667	4.668e-3	5.784e-3	
Anal polyp	Hydronephrosis	1	1	PTGES (3)	0.05556	0.16667	4.668e-3	5.784e-3	
Lennox-gastaut syndrome	Synovial disorder	1	1	GABRB3 (3)	0.05556	0.16667	4.668e-3	5.784e-3	
Hereditary atrial fibrillation	Throat disease	1	1	GATA5 (2)	0.03704	0.33333	4.669e-3	5.784e-3	
Intellectual developmental disorder dysmorphic facial	Uranostaphyloschisis	1	1	SETD5 (3)	0.03704	0.33333	4.669e-3	5.784e-3	
Autoimmune thrombocytopenic purpura	Juvenile parkinsonism	1	1	DNAJC6 (3)	0.03704	0.33333	4.669e-3	5.784e-3	
Hemorrhage	Juvenile parkinsonism	1	1	PODXL (4)	0.03704	0.33333	4.669e-3	5.784e-3	
Autoimmune thrombocytopenic purpura	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	1	1	DNAJC6 (2)	0.03704	0.33333	4.669e-3	5.784e-3	
Encephalitis	Peroxisome biogenesis disorder	1	0	ABCD1 (1)	0.03704	0.33333	4.669e-3	5.784e-3	
Benign adult familial myoclonic epilepsy	Myoclonic epilepsy	1	1	SAMD12 (2)	0.03704	0.33333	4.669e-3	5.784e-3	284
Cystic leukoencephalopathy	Smooth surface dental caries	1	1	RNASET2 (4)	0.02632	0.50000	4.671e-3	5.784e-3	
Developmental delay with or without intellectual or behavioral abnormalities	syndromic intellectual disability	1	1	TAOK1 (4)	0.02632	0.50000	4.671e-3	5.784e-3	
Dubowitz syndrome	syndromic intellectual disability	1	1	NSUN2 (3)	0.02632	0.50000	4.671e-3	5.784e-3	
17q24.2 microdeletion syndrome	syndromic intellectual disability	1	1	BPTF (3)	0.02632	0.50000	4.671e-3	5.784e-3	
Anosmia	Moyamoya angiopathy	1	1	TENM1 (2)	0.02632	0.50000	4.671e-3	5.784e-3	
Cerebral folate deficiency	Ocular hypotension	1	0	CIC (1)	0.02632	0.50000	4.671e-3	5.784e-3	
Charcot-Marie-Tooth disease type 2	Distal hereditary motor neuropathy	1	1	NEFL (2)	0.02632	0.50000	4.671e-3	5.784e-3	13
Cone rod dystrophy and hearing loss	Moyamoya angiopathy	1	1	CEP78 (5)	0.02632	0.50000	4.671e-3	5.784e-3	
Congenital anosmia	Moyamoya angiopathy	1	0	TENM1 (1)	0.02632	0.50000	4.671e-3	5.784e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Duplication 15q11-q13 syndrome	1	0	AUTS2 (1)	0.02632	0.50000	4.671e-3	5.784e-3	
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Ventricular fibrillation	1	0	LIPT2 (1)	0.02632	0.50000	4.671e-3	5.784e-3	
Proliferative diabetic retinopathy	Temple syndrome	1	1	DLK1 (3)	0.02632	0.50000	4.671e-3	5.784e-3	
Distal hereditary motor neuropathy	Testis atrophy	1	1	PLEKHG5 (3)	0.02632	0.50000	4.671e-3	5.784e-3	
Microphthalmia with retinitis pigmentosa and ocular anomalies	Microphthalmos	1	1	MFRP (2)	0.02632	0.50000	4.671e-3	5.784e-3	52
Distal hereditary motor neuropathy	Primary coenzyme q10 deficiency	1	1	COQ7 (5)	0.02632	0.50000	4.671e-3	5.784e-3	
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Ocular anomalies with axonal neuropathy and developmental delay	1	1	ATAD3A (2)	0.02632	0.50000	4.671e-3	5.784e-3	
Microphthalmos	Oculoauricular syndrome	1	1	HMX1 (7)	0.02632	0.50000	4.671e-3	5.784e-3	
Oculopharyngeal muscular dystrophy	T-cell leukemia-lymphoma	1	1	HNRNPA2B1 (5)	0.02632	0.50000	4.671e-3	5.784e-3	
Distal hereditary motor neuropathy	Odontochondrodysplasia 2 with hearing loss and diabetes	1	1	PLEKHG5 (5)	0.02632	0.50000	4.671e-3	5.784e-3	
Peho syndrome	syndromic intellectual disability	1	1	KIF1A (3)	0.02632	0.50000	4.671e-3	5.784e-3	
Intellectual developmental disorder dysmorphic microcephaly	syndromic intellectual disability	1	1	CTCF (3)	0.02632	0.50000	4.671e-3	5.784e-3	
Eating disorder	hyperprolinemia type 2	1	1	ALDH4A1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
IMPDH1-related retinopathy	Leber congenital amaurosis	1	1	IMPDH1 (7)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	microcornea-myopic chorioretinal atrophy	1	1	ADAMTS18 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Miles-carpenter syndrome	1	1	ZC4H2 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Eating disorder	Mucosulfatidosis	1	1	SUMF1 (3)	0.01370	1.00000	4.676e-3	5.784e-3	
enhanced s-cone syndrome	Leber congenital amaurosis	1	1	NR2E3 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	Leber congenital amaurosis	1	1	SLC38A8 (2)	0.01370	1.00000	4.676e-3	5.784e-3	7
Goldmann-favre syndrome	Leber congenital amaurosis	1	1	NR2E3 (3)	0.01370	1.00000	4.676e-3	5.784e-3	
GRM6-related retinopathy	Leber congenital amaurosis	1	1	GRM6 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Hecht syndrome	1	1	MYH8 (3)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Trismus-pseudocamptodactyly syndrome	1	1	MYH8 (3)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	TTC8-related ciliopathy	1	1	TTC8 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	TUBB4B-related ciliopathy	1	1	TUBB4B (5)	0.01370	1.00000	4.676e-3	5.784e-3	7
Barrett esophagus	Ulnar-fibular ray defect and brachydactyly	1	1	RP1L1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Vexas syndrome	1	1	UBA1 (5)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Wieacker syndrome	1	1	ZC4H2 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Wieacker-wolff syndrome	1	1	ZC4H2 (6)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	X-linked retinitis pigmentosa	1	0	RP2 (1)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Schindler disease	1	1	NAGA (3)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	snowflake vitreoretinal degeneration	1	1	KCNJ13 (7)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	1	1	PCYT1A (4)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	succinic semialdehyde dehydrogenase deficiency	1	1	ALDH5A1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Barrett esophagus	occult macular dystrophy	1	1	RP1L1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	PDE6A-related retinopathy	1	1	PDE6A (2)	0.01370	1.00000	4.676e-3	5.784e-3	
LCA5-related retinopathy	Leber congenital amaurosis	1	1	LCA5 (8)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	leber congenital amaurosis 15	1	1	TULP1 (6)	0.01370	1.00000	4.676e-3	5.784e-3	7
Barrett esophagus	lichtenstein-knorr syndrome	1	1	SLC9A1 (3)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	PRPF31-related retinopathy	1	1	PRPF31 (2)	0.01370	1.00000	4.676e-3	5.784e-3	7
Leber congenital amaurosis	RD3-related retinopathy	1	1	RD3 (7)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	retinitis pigmentosa 65	1	1	CDHR1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	7
Leber congenital amaurosis	RP1-related dominant retinopathy	1	1	RP1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	RP1-related recessive retinopathy	1	1	RP1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Leber congenital amaurosis	RP2-related retinopathy	1	1	RP2 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
cone-rod dystrophy 2	Leber congenital amaurosis	1	1	CRX (7)	0.01370	1.00000	4.676e-3	5.784e-3	7
Congenital external auditory canal atresia	Eating disorder	1	1	TSHZ1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Congenital finger flexion contractures	1	0	TNNI2 (1)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	Arthrogryposis with neurodevelopmental impairment and seizures	1	1	SLC35A3 (3)	0.01370	1.00000	4.676e-3	5.784e-3	
Arthrogryposis multiplex congenita	arthrogryposis, renal dysfunction, and cholestasis 1	1	1	VPS33B (2)	0.01370	1.00000	4.676e-3	5.784e-3	
aural atresia, congenital	Eating disorder	1	1	TSHZ1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Axial spondylometaphyseal dysplasia	Leber congenital amaurosis	1	1	CFAP410 (3)	0.01370	1.00000	4.676e-3	5.784e-3	
Barrett esophagus	Cerebellar ataxia with hearing loss	1	1	SLC9A1 (2)	0.01370	1.00000	4.676e-3	5.784e-3	
Charcot-Marie-Tooth disease, axonal, type 2FF	Eating disorder	1	1	CADM3 (2)	0.01370	1.00000	4.676e-3	5.784e-3	75
AIPL1-related retinopathy	Leber congenital amaurosis	1	1	AIPL1 (7)	0.01370	1.00000	4.676e-3	5.784e-3	
Alpha-n-acetylgalactosaminidase deficiency	Arthrogryposis multiplex congenita	1	1	NAGA (4)	0.01370	1.00000	4.676e-3	5.784e-3	
Congenital factor x deficiency	Psoriatic arthritis	1	1	F10 (4)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	Congenital small-platelet thrombocytopenia	1	1	FYB1 (3)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	CIDEC-related familial partial lipodystrophy	1	1	CIDEC (3)	0.01351	1.00000	4.741e-3	5.859e-3	
Carnitine deficiency	Psoriatic arthritis	1	1	SLC22A5 (3)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	Cervicitis	1	1	IL32 (2)	0.01351	1.00000	4.741e-3	5.859e-3	
Factor x deficiency	Psoriatic arthritis	1	1	F10 (4)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	Familial partial lipodystrophy	1	1	CIDEC (4)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	immunodeficiency 19	1	1	CD3D (3)	0.01351	1.00000	4.741e-3	5.859e-3	
Intellectual developmental disorder language neurodegenerative	Psoriatic arthritis	1	1	NR4A2 (5)	0.01351	1.00000	4.741e-3	5.859e-3	
Gestational trophoblastic disease	Psoriatic arthritis	1	1	POU5F1 (2)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	iron overload, susceptibility to	1	1	BMP6 (3)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	systemic lupus erythematosus 17	1	1	TLR7 (3)	0.01351	1.00000	4.741e-3	5.859e-3	46
Psoriatic arthritis	Systemic primary carnitine deficiency	1	1	SLC22A5 (4)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	thrombocytopenia 3	1	1	FYB1 (3)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	Papillon-lefevre syndrome	1	1	CTSC (6)	0.01351	1.00000	4.741e-3	5.859e-3	
Allergic contact dermatitis	pediatric systemic lupus erythematosus	1	1	SAT1 (3)	0.01351	1.00000	4.741e-3	5.859e-3	
Odontochondrodysplasia 2 with hearing loss and diabetes	Spinal muscular atrophy	1	1	PLEKHG5 (3)	0.02564	0.50000	4.800e-3	5.919e-3	
Sandhoff disease	Spinal muscular atrophy	1	1	HEXB (7)	0.02564	0.50000	4.800e-3	5.919e-3	
Microscopic colitis	Toxic epidermal necrolysis	1	0	MICB (1)	0.02564	0.50000	4.800e-3	5.919e-3	
Spinal muscular atrophy	Testis atrophy	1	1	PLEKHG5 (2)	0.02564	0.50000	4.800e-3	5.919e-3	
Atypical femoral fracture	Congenital radioulnar synostosis	1	1	SMAD6 (2)	0.02564	0.50000	4.800e-3	5.919e-3	
Autoinflammatory syndrome	Candle syndrome	1	0	PSMB8 (1)	0.02564	0.50000	4.800e-3	5.919e-3	
Autoimmune interstitial lung disease-arthritis syndrome	Autoinflammatory syndrome	1	0	NLRP12 (1)	0.02564	0.50000	4.800e-3	5.919e-3	
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Glycogen storage disease	1	1	RBCK1 (3)	0.02564	0.50000	4.800e-3	5.919e-3	
ATP6AP2-related disorder	X-linked intellectual disability	1	1	ATP6AP2 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Axial spondylometaphyseal dysplasia	Cone-rod dystrophy	1	1	CFAP410 (4)	0.01333	1.00000	4.806e-3	5.919e-3	
Creatine transporter deficiency	X-linked intellectual disability	1	1	SLC6A8 (3)	0.01333	1.00000	4.806e-3	5.919e-3	
CERKL-related retinopathy	Cone-rod dystrophy	1	1	CERKL (2)	0.01333	1.00000	4.806e-3	5.919e-3	7
Aarskog-scott syndrome, x-linked	X-linked intellectual disability	1	1	FGD1 (3)	0.01333	1.00000	4.806e-3	5.919e-3	
acyl-CoA binding domain containing protein 5 deficiency	Cone-rod dystrophy	1	1	ACBD5 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Acyl-coa binding domain containing protein deficiency	Cone-rod dystrophy	1	0	ACBD5 (1)	0.01333	1.00000	4.806e-3	5.919e-3	
ADAM9-related retinopathy	Cone-rod dystrophy	1	1	ADAM9 (6)	0.01333	1.00000	4.806e-3	5.919e-3	
CACNA2D4-related retinopathy	Cone-rod dystrophy	1	1	CACNA2D4 (4)	0.01333	1.00000	4.806e-3	5.919e-3	
CNGA1-related retinopathy	Cone-rod dystrophy	1	1	CNGA1 (2)	0.01333	1.00000	4.806e-3	5.919e-3	7
CNGA3-related retinopathy	Cone-rod dystrophy	1	1	CNGA3 (4)	0.01333	1.00000	4.806e-3	5.919e-3	
colorectal cancer, hereditary nonpolyposis, type 7	Esophageal neoplasms	1	1	MLH3 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
cone dystrophy 3	Cone-rod dystrophy	1	1	GUCA1A (5)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	cone-rod dystrophy 20	1	1	POC1B (7)	0.01333	1.00000	4.806e-3	5.919e-3	
Say meyer syndrome	X-linked intellectual disability	1	1	HUWE1 (3)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	short-rib thoracic dysplasia 19 with or without polydactyly	1	1	IFT81 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
syndromic X-linked intellectual disability Nascimento type	X-linked intellectual disability	1	1	UBE2A (3)	0.01333	1.00000	4.806e-3	5.919e-3	129
syndromic X-linked intellectual disability Raymond type	X-linked intellectual disability	1	1	ZDHHC9 (2)	0.01333	1.00000	4.806e-3	5.919e-3	129
syndromic X-linked intellectual disability Siderius type	X-linked intellectual disability	1	1	PHF8 (3)	0.01333	1.00000	4.806e-3	5.919e-3	129
syndromic X-linked intellectual disability Snyder type	X-linked intellectual disability	1	1	SMS (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	RAB28-related retinopathy	1	1	RAB28 (7)	0.01333	1.00000	4.806e-3	5.919e-3	7
Cone-rod dystrophy	red color blindness	1	1	OPN1LW (4)	0.01333	1.00000	4.806e-3	5.919e-3	
renpenning syndrome	X-linked intellectual disability	1	1	PQBP1 (5)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	retinitis pigmentosa 65	1	1	CDHR1 (8)	0.01333	1.00000	4.806e-3	5.919e-3	7
Cone-rod dystrophy	RP2-related retinopathy	1	1	RP2 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	optic atrophy 13 with retinal and foveal abnormalities	1	1	SSBP1 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Parkinsonism with cognitive impairment	X-linked intellectual disability	1	1	RAB39B (3)	0.01333	1.00000	4.806e-3	5.919e-3	
Parkinsonism with spasticity, x-linked	X-linked intellectual disability	1	1	ATP6AP2 (4)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	PCARE-related retinopathy	1	1	PCARE (2)	0.01333	1.00000	4.806e-3	5.919e-3	7
Cone-rod dystrophy	PDE6C-related retinopathy	1	1	PDE6C (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	TTLL5-related retinopathy	1	1	TTLL5 (6)	0.01333	1.00000	4.806e-3	5.919e-3	
Van esch-o’driscoll syndrome	X-linked intellectual disability	1	1	POLA1 (5)	0.01333	1.00000	4.806e-3	5.919e-3	
Waisman syndrome	X-linked intellectual disability	1	1	RAB39B (5)	0.01333	1.00000	4.806e-3	5.919e-3	
Esophageal neoplasms	Winchester syndrome	1	1	MMP14 (5)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked creatine transporter deficiency	X-linked intellectual disability	1	1	SLC6A8 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked dystonia-parkinsonism	X-linked intellectual disability	1	1	TAF1 (4)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	X-linked intellectual disability	1	1	USP9X (5)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia	X-linked intellectual disability	1	1	MAGT1 (5)	0.01333	1.00000	4.806e-3	5.919e-3	129
X-linked intellectual disability	X-linked intellectual disability-cerebellar hypoplasia syndrome	1	1	OPHN1 (6)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked intellectual disability	X-linked intellectual disability, Cabezas type	1	1	CUL4B (4)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked intellectual disability	X-linked myopathy with excessive autophagy	1	1	RPL10 (4)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked intellectual disability	X-linked parkinsonism-spasticity syndrome	1	1	ATP6AP2 (3)	0.01333	1.00000	4.806e-3	5.919e-3	
X-linked intellectual disability	X-linked reticulate pigmentary disorder	1	1	POLA1 (5)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	X-linked retinitis pigmentosa	1	0	RP2 (1)	0.01333	1.00000	4.806e-3	5.919e-3	
Esophageal neoplasms	Ziegler-huang syndrome	1	1	SLC30A7 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Hyperekplexia epilepsy syndrome	X-linked intellectual disability	1	1	ARHGEF9 (3)	0.01333	1.00000	4.806e-3	5.919e-3	129
Cone-rod dystrophy	IMPG2-related recessive retinopathy	1	1	IMPG2 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Early-onset parkinsonism-intellectual disability syndrome	X-linked intellectual disability	1	1	RAB39B (5)	0.01333	1.00000	4.806e-3	5.919e-3	
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Esophageal neoplasms	1	1	UCHL1 (4)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	enhanced s-cone syndrome	1	1	NR2E3 (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Female restricted epilepsy with intellectual disability	X-linked intellectual disability	1	0	PCDH19 (1)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	MERTK-related retinopathy	1	1	MERTK (2)	0.01333	1.00000	4.806e-3	5.919e-3	
Cone-rod dystrophy	Goldmann-favre syndrome	1	1	NR2E3 (3)	0.01333	1.00000	4.806e-3	5.919e-3	
intellectual disability, X-linked 107	X-linked intellectual disability	1	1	STEEP1 (3)	0.01333	1.00000	4.806e-3	5.919e-3	
Iminoglycinuria	Macular telangiectasia	1	1	SLC6A20 (4)	0.05000	0.20000	4.862e-3	5.985e-3	
Oculopharyngodistal myopathy	Tremor	1	1	NOTCH2NLC (4)	0.05000	0.20000	4.862e-3	5.985e-3	
Paraplegia	Rotator cuff tear	1	0	SAP30BP (1)	0.05000	0.20000	4.862e-3	5.985e-3	
Congenital heart malformation	Syntelencephaly	1	1	FOXH1 (3)	0.05000	0.20000	4.862e-3	5.985e-3	110
Congenital heart malformation	Septopreoptic holoprosencephaly	1	1	FOXH1 (3)	0.05000	0.20000	4.862e-3	5.985e-3	110
Diabetic foot	Polymorphic catecholaminergic ventricular tachycardia	1	1	TRDN (2)	0.05000	0.20000	4.862e-3	5.985e-3	
Chagas cardiomyopathy	Chudley-mccullough syndrome	1	1	SPTB (2)	0.03571	0.33333	4.863e-3	5.985e-3	271
Aplasia cutis congenita with epibulbar dermoids	Oocyte maturation defect	1	1	NLRP5 (4)	0.03571	0.33333	4.863e-3	5.985e-3	
Intellectual developmental disorder dysmorphic facial	Polymicrogyria	1	1	SETD5 (3)	0.03571	0.33333	4.863e-3	5.985e-3	
Male infertility testicular dysgenesis	Oocyte maturation defect	1	1	CHEK1 (3)	0.03571	0.33333	4.863e-3	5.985e-3	
Amblyopia	Thiamine-responsive maple syrup urine disease	1	1	BCKDHB (2)	0.03571	0.33333	4.863e-3	5.985e-3	
Chagas cardiomyopathy	Rotor syndrome	1	1	SLCO1B1 (4)	0.03571	0.33333	4.863e-3	5.985e-3	
Encephalitis	Spondyloepimetaphyseal dysplasia	1	0	ABCD1 (1)	0.03571	0.33333	4.863e-3	5.985e-3	
Common variable immunodeficiency	severe combined immunodeficiency due to DCLRE1C deficiency	1	1	DCLRE1C (2)	0.01316	1.00000	4.871e-3	5.990e-3	
Contact dermatitis	stankiewicz-isidor syndrome	1	1	PSMD12 (3)	0.01316	1.00000	4.871e-3	5.990e-3	
Common variable immunodeficiency	isolated sulfite oxidase deficiency	1	1	SUOX (2)	0.01316	1.00000	4.871e-3	5.990e-3	47
Common variable immunodeficiency	IL21-related infantile inflammatory bowel disease	1	1	IL21 (4)	0.01316	1.00000	4.871e-3	5.990e-3	
Common variable immunodeficiency	immunodeficiency, common variable, 10	1	1	NFKB2 (3)	0.01316	1.00000	4.871e-3	5.990e-3	
Common variable immunodeficiency	immunodeficiency, common variable, 14	1	1	IRF2BP2 (2)	0.01316	1.00000	4.871e-3	5.990e-3	
Common variable immunodeficiency	immunodeficiency, common variable, 2	1	1	TNFRSF13B (5)	0.01316	1.00000	4.871e-3	5.990e-3	
Common variable immunodeficiency	immunodeficiency, common variable, 3	1	1	CD19 (5)	0.01316	1.00000	4.871e-3	5.990e-3	
Common variable immunodeficiency	immunodeficiency, common variable, 4	1	1	TNFRSF13C (4)	0.01316	1.00000	4.871e-3	5.990e-3	47
Common variable immunodeficiency	immunodeficiency, common variable, 5	1	1	MS4A1 (4)	0.01316	1.00000	4.871e-3	5.990e-3	
Common variable immunodeficiency	immunodeficiency, common variable, 6	1	1	CD81 (5)	0.01316	1.00000	4.871e-3	5.990e-3	47
Common variable immunodeficiency	immunodeficiency, common variable, 7	1	1	CR2 (5)	0.01316	1.00000	4.871e-3	5.990e-3	47
Contact dermatitis	inherited glutathione synthetase deficiency	1	1	GSS (3)	0.01316	1.00000	4.871e-3	5.990e-3	
Anterior pituitary function deficiency with variable immunodeficiency	Common variable immunodeficiency	1	1	NFKB2 (4)	0.01316	1.00000	4.871e-3	5.990e-3	
Antibody deficiency	Common variable immunodeficiency	1	1	CD19 (4)	0.01316	1.00000	4.871e-3	5.990e-3	
Hyperemesis gravidarum	Mouth disease	1	1	GDF15 (4)	0.04348	0.25000	4.927e-3	6.052e-3	
Dejerine-sottas disease	Lysine metabolism disorder	1	0	DHTKD1 (1)	0.02500	0.50000	4.930e-3	6.052e-3	
Hypertrophic neuropathy	Lysine metabolism disorder	1	0	DHTKD1 (1)	0.02500	0.50000	4.930e-3	6.052e-3	
Lysine metabolism disorder	Roussy-levy syndrome	1	0	DHTKD1 (1)	0.02500	0.50000	4.930e-3	6.052e-3	
Microphthalmia	Oculoauricular syndrome	1	1	HMX1 (7)	0.02500	0.50000	4.930e-3	6.052e-3	
Dejerine-sottas disease	Odontochondrodysplasia 2 with hearing loss and diabetes	1	1	PLEKHG5 (3)	0.02500	0.50000	4.930e-3	6.052e-3	
Cutaneous squamous cell carcinoma	methylmalonic aciduria and homocystinuria	1	1	ZNF143 (2)	0.02500	0.50000	4.930e-3	6.052e-3	
Dermatitis	Microscopic colitis	1	0	CLEC16A (1)	0.02500	0.50000	4.930e-3	6.052e-3	
Dermatitis	Diffuse palmoplantar keratoderma	1	1	DSG1 (3)	0.02500	0.50000	4.930e-3	6.052e-3	
Dejerine-sottas disease	Distal amyotrophy	1	0	DHTKD1 (1)	0.02500	0.50000	4.930e-3	6.052e-3	
Cone dystrophy	Cone-rod synaptic disorder	1	1	CABP4 (4)	0.02500	0.50000	4.930e-3	6.052e-3	
Brain neoplasms	Conjunctival disease	1	1	DAPK1 (2)	0.02500	0.50000	4.930e-3	6.052e-3	
Corpus callosum agenesis neuronopathy syndrome	Dejerine-sottas disease	1	1	SLC12A6 (3)	0.02500	0.50000	4.930e-3	6.052e-3	
Corpus callosum agenesis neuronopathy syndrome	Hypertrophic neuropathy	1	1	SLC12A6 (3)	0.02500	0.50000	4.930e-3	6.052e-3	
Corpus callosum agenesis neuronopathy syndrome	Roussy-levy syndrome	1	1	SLC12A6 (3)	0.02500	0.50000	4.930e-3	6.052e-3	
Congenital microtia	Inflammatory skin disease	1	1	PRKRA (3)	0.01299	1.00000	4.936e-3	6.052e-3	
Congenital plasmin inhibitor deficiency	Hypogonadism	1	1	SERPINF2 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Cranio-cervical dystonia	Inflammatory skin disease	1	1	ANO3 (3)	0.01299	1.00000	4.936e-3	6.052e-3	
developmental delay with variable intellectual disability and dysmorphic facies	Intellectual disability	1	1	JARID2 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
developmental delay with variable intellectual impairment and behavioral abnormalities	Intellectual disability	1	1	TCF20 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Dorfman-chanarin disease	Inflammatory skin disease	1	1	ABHD5 (3)	0.01299	1.00000	4.936e-3	6.052e-3	
Dosage-sensitive sex reversal	Hypogonadism	1	1	NR0B1 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Baralle-macken syndrome	Intellectual disability	1	1	COPB1 (4)	0.01299	1.00000	4.936e-3	6.052e-3	
Alpha-2-plasmin inhibitor deficiency	Hypogonadism	1	1	SERPINF2 (3)	0.01299	1.00000	4.936e-3	6.052e-3	
amyotrophic lateral sclerosis type 15	Hypogonadism	1	1	UBQLN2 (2)	0.01299	1.00000	4.936e-3	6.052e-3	58
Congenital alpha-2-antiplasmin deficiency	Hypogonadism	1	1	SERPINF2 (3)	0.01299	1.00000	4.936e-3	6.052e-3	
Congenital central hypothyroidism	Intellectual disability	1	0	TRHR (1)	0.01299	1.00000	4.936e-3	6.052e-3	
Biotinidase deficiency	Inflammatory skin disease	1	1	BTD (8)	0.01299	1.00000	4.936e-3	6.052e-3	
Bjornstad syndrome	Intellectual disability	1	1	BCS1L (6)	0.01299	1.00000	4.936e-3	6.052e-3	
Brachydactyly with hypertension	Hypogonadism	1	1	PDE3A (3)	0.01299	1.00000	4.936e-3	6.052e-3	
Chromosome 2p16.3 deletion syndrome	Intellectual disability	1	1	NRXN1 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual disability	mucopolysaccharidosis type 3B	1	1	NAGLU (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual disability	NAA10-related syndrome	1	1	NAA10 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual disability	Iodide peroxidase deficiency	1	1	TPO (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Hypogonadism	Isolated follicle-stimulating hormone deficiency	1	1	FSHB (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual disability	KCNH1 associated disorder	1	1	KCNH1 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Hydrops with lactic acidosis and sideroblastic anemia	Inflammatory skin disease	1	1	LARS2 (6)	0.01299	1.00000	4.936e-3	6.052e-3	
Hyperekplexia epilepsy syndrome	Hypogonadism	1	1	ARHGEF9 (3)	0.01299	1.00000	4.936e-3	6.052e-3	
Hypertension and brachydactyly syndrome	Hypogonadism	1	1	PDE3A (2)	0.01299	1.00000	4.936e-3	6.052e-3	
immunodeficiency 92	Inflammatory skin disease	1	1	REL (2)	0.01299	1.00000	4.936e-3	6.052e-3	
intellectual developmental disorder 59	Intellectual disability	1	1	CAMK2G (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual developmental disorder hypotonia spastic sleep	Intellectual disability	1	1	ANK3 (3)	0.01299	1.00000	4.936e-3	6.052e-3	
Inflammatory skin disease	Intellectual developmental disorder neuropsychiatric	1	1	SLC45A1 (4)	0.01299	1.00000	4.936e-3	6.052e-3	14
Intellectual disability	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	1	1	GATAD2B (5)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual disability	spinocerebellar ataxia type 42	1	1	CACNA1G (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual disability	Temple-baraitser syndrome	1	1	KCNH1 (5)	0.01299	1.00000	4.936e-3	6.052e-3	
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Hypogonadism	1	1	KDF1 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
Epilepsy due to perinatal stroke	Intellectual disability	1	0	ST3GAL3 (1)	0.01299	1.00000	4.936e-3	6.052e-3	
Hypogonadism	X-linked adrenal hypoplasia congenita	1	1	NR0B1 (4)	0.01299	1.00000	4.936e-3	6.052e-3	
Intellectual disability	Partial corpus callosum agenesis	1	1	KPNA7 (2)	0.01299	1.00000	4.936e-3	6.052e-3	
glutamate pyruvate transaminase 2 deficiency	Intellectual disability	1	1	GPT2 (2)	0.01299	1.00000	4.936e-3	6.052e-3	6
Hermansky-pudlak syndrome	Sensory peripheral neuropathy	1	1	DTNBP1 (7)	0.05556	0.14286	4.991e-3	6.119e-3	
Cutaneous lupus erythematosus	Peeling skin syndrome	1	1	PSORS1C1 (2)	0.05556	0.14286	4.991e-3	6.119e-3	
Post-operative acute kidney injury	Renal hypertension	1	1	HSPA8 (2)	0.05556	0.14286	4.991e-3	6.119e-3	
Keratinocyte carcinoma	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	1	1	SLC6A17 (2)	0.01282	1.00000	5.001e-3	6.129e-3	16
histidinemia	Keratinocyte carcinoma	1	1	HAL (2)	0.01282	1.00000	5.001e-3	6.129e-3	16
Amphetamine or sympathomimetic abuse	PDE6C-related retinopathy	1	1	PDE6C (3)	0.01282	1.00000	5.001e-3	6.129e-3	
Chromosome 20q11-q12 deletion syndrome	Keratinocyte carcinoma	1	1	EPB41L1 (3)	0.01282	1.00000	5.001e-3	6.129e-3	16
Amphetamine or sympathomimetic abuse	atypical glycine encephalopathy	1	1	SLC6A9 (3)	0.01282	1.00000	5.001e-3	6.129e-3	
Amphetamine or sympathomimetic abuse	Congenital microvillous atrophy	1	1	MYO5B (3)	0.01282	1.00000	5.001e-3	6.129e-3	
Choroidal melanoma	Neuropathy, ataxia, and retinitis pigmentosa	1	1	TDP1 (2)	0.05263	0.16667	5.056e-3	6.195e-3	
Adams-oliver syndrome	Congenital abnormalities	1	1	NOTCH1 (4)	0.05263	0.16667	5.056e-3	6.195e-3	
1p36 deletion syndrome	Anal polyp	1	1	CASZ1 (3)	0.05263	0.16667	5.056e-3	6.195e-3	
Amino acid metabolism disorder	Citrullinemia	1	0	SLC25A15 (1)	0.03448	0.33333	5.057e-3	6.197e-3	
Dyskinesia	Genetic neurodegenerative disease	1	0	KIF5A (1)	0.03448	0.33333	5.057e-3	6.197e-3	
Angiocentric glioma	Osteonecrosis	1	1	QKI (2)	0.02439	0.50000	5.059e-3	6.199e-3	
Cholesterol ester storage disease	Large artery stroke	1	1	LIPA (6)	0.01266	1.00000	5.066e-3	6.201e-3	
Chondrodysplasia-difference of sex development syndrome	Large artery stroke	1	1	HHAT (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Chondrodysplasia-pseudohypohermaphroditism syndrome	Large artery stroke	1	1	HHAT (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	Large artery stroke	1	1	ZPR1 (4)	0.01266	1.00000	5.066e-3	6.201e-3	
primrose syndrome	Stevens-johnson syndrome	1	1	ZBTB20 (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Stevens-johnson syndrome	1	1	EP300 (3)	0.01266	1.00000	5.066e-3	6.201e-3	
Large artery stroke	leukodystrophy, hypomyelinating, 25	1	1	TMEM163 (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Large artery stroke	lysosomal acid lipase deficiency	1	1	LIPA (2)	0.01266	1.00000	5.066e-3	6.201e-3	
hypomagnesemia, seizures, and intellectual disability 1	Large artery stroke	1	1	CNNM2 (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Intellectual developmental disorder cataracts myopathy	Stevens-johnson syndrome	1	1	ZBTB20 (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Large artery stroke	TTLL5-related retinopathy	1	1	TTLL5 (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Large artery stroke	Wolman disease	1	1	LIPA (5)	0.01266	1.00000	5.066e-3	6.201e-3	
Large artery stroke	spondyloepiphyseal dysplasia, kondo-fu type	1	1	MBTPS1 (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Stevens-johnson syndrome	systemic lupus erythematosus related to C1QA	1	1	C1QA (3)	0.01266	1.00000	5.066e-3	6.201e-3	
Large artery stroke	Tetany	1	1	CNNM2 (2)	0.01266	1.00000	5.066e-3	6.201e-3	
Hyperopia	Primary hypomagnesemia with hypocalciuria	1	1	FXYD2 (2)	0.01250	1.00000	5.131e-3	6.277e-3	
Hyperopia	renal hypomagnesemia 2	1	1	FXYD2 (2)	0.01250	1.00000	5.131e-3	6.277e-3	
hermansky-pudlak syndrome 8	Hyperopia	1	1	BLOC1S3 (2)	0.01250	1.00000	5.131e-3	6.277e-3	
Hyperopia	nephrotic syndrome 14	1	1	SGPL1 (2)	0.01250	1.00000	5.131e-3	6.277e-3	
Hyperopia	Neuralgic amyotrophy	1	1	SEPTIN9 (4)	0.01250	1.00000	5.131e-3	6.277e-3	
Hyperopia	ITPKB deficiency	1	1	ITPKB (2)	0.01250	1.00000	5.131e-3	6.277e-3	
Hyperopia	Hypochromic sideroblastic anemia	1	1	STEAP3 (6)	0.01250	1.00000	5.131e-3	6.277e-3	
Chondrodysplasia-difference of sex development syndrome	Hyperopia	1	1	HHAT (2)	0.01250	1.00000	5.131e-3	6.277e-3	
Chondrodysplasia-pseudohypohermaphroditism syndrome	Hyperopia	1	1	HHAT (2)	0.01250	1.00000	5.131e-3	6.277e-3	
congenital myasthenic syndrome 8	Hyperopia	1	1	AGRN (2)	0.01250	1.00000	5.131e-3	6.277e-3	
diaphyseal medullary stenosis-bone malignancy syndrome	Hyperopia	1	1	MTAP (2)	0.01250	1.00000	5.131e-3	6.277e-3	
Brachial plexus neuritis	Hyperopia	1	1	SEPTIN9 (3)	0.01250	1.00000	5.131e-3	6.277e-3	
Machado-joseph disease	Omenn syndrome	1	1	IFTAP (2)	0.05556	0.12500	5.185e-3	6.341e-3	
Developmental disorder	Dyshidrosis	1	0	DLG2 (1)	0.04762	0.20000	5.185e-3	6.341e-3	
Dental enamel hypoplasia	Dyshidrosis	1	0	PTPRD (1)	0.04762	0.20000	5.185e-3	6.341e-3	
Congenital heart malformation	Microform holoprosencephaly	1	1	FOXH1 (3)	0.04762	0.20000	5.185e-3	6.341e-3	110
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	Mitochondrial encephalomyopathy	1	1	SCO2 (3)	0.04762	0.20000	5.185e-3	6.341e-3	62
Aneuploidy	Lymphedema	1	1	KIF11 (2)	0.04762	0.20000	5.185e-3	6.341e-3	
Bulimia	Greither disease	1	1	PERP (2)	0.04167	0.25000	5.186e-3	6.341e-3	
Situs inversus	Visceral heterotaxy	1	1	CFAP52 (3)	0.04167	0.25000	5.186e-3	6.341e-3	54
Degenerative disorder	Seborrhea-like dermatitis with psoriasiform elements	1	0	TBCD (1)	0.02381	0.50000	5.189e-3	6.343e-3	
Degenerative disorder	Masp2 deficiency	1	0	TARDBP (1)	0.02381	0.50000	5.189e-3	6.343e-3	
Hyperlipoproteinemia	Myoadenylate deaminase deficiency	1	1	AMPD1 (2)	0.02381	0.50000	5.189e-3	6.343e-3	
Catel-manzke syndrome	Degenerative disorder	1	0	KYNU (1)	0.02381	0.50000	5.189e-3	6.343e-3	
Chylomicron retention disease	Nephronophthisis	1	1	DCDC2 (5)	0.02381	0.50000	5.189e-3	6.343e-3	
Brain injuries	Neurogenic bladder	1	0	CHRM2 (1)	0.01235	1.00000	5.195e-3	6.351e-3	
Brain injuries	immunodeficiency, common variable, 4	1	1	TNFRSF13C (2)	0.01235	1.00000	5.195e-3	6.351e-3	
autosomal dominant nonsyndromic hearing loss	Peritoneal disease	1	1	COL11A1 (2)	0.05556	0.11111	5.250e-3	6.416e-3	
Asperger syndrome	Peritoneal disease	1	1	DISC1 (3)	0.05556	0.11111	5.250e-3	6.416e-3	
Sezary syndrome	X-linked combined immunodeficiency diseases	1	1	IL2RG (2)	0.03333	0.33333	5.252e-3	6.417e-3	
Malignant glioma	Rhabdomyosarcoma	1	1	PAX7 (3)	0.03333	0.33333	5.252e-3	6.417e-3	
15q11.2 microdeletion syndrome	Cortical development malformation	1	1	TUBG1 (3)	0.03333	0.33333	5.252e-3	6.417e-3	144
Bladder exstrophy and epispadias complex	Carpenter syndrome	1	1	RAB23 (4)	0.03333	0.33333	5.252e-3	6.417e-3	
Combined oxidative phosphorylation defect	Obstructive sleep apnea syndrome	1	1	WARS2 (3)	0.01220	1.00000	5.260e-3	6.419e-3	
Aortic valve disease	Congenital hypogonadotropic hypogonadism	1	1	EMX2 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Aortic valve disease	Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome	1	1	MYSM1 (3)	0.01220	1.00000	5.260e-3	6.419e-3	
Cousin syndrome	Obstructive sleep apnea syndrome	1	1	TBX15 (3)	0.01220	1.00000	5.260e-3	6.419e-3	
5-oxoprolinase deficiency	Atrial flutter	1	0	OPLAH (1)	0.01220	1.00000	5.260e-3	6.419e-3	3
Aortic valve disease	aortic valve disease 3	1	1	ROBO4 (5)	0.01220	1.00000	5.260e-3	6.419e-3	
Aortic valve disease	bone marrow failure syndrome 4	1	1	MYSM1 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
brown-vialetto-van laere syndrome 1	Obstructive sleep apnea syndrome	1	1	SLC52A3 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Camptodactyly	Kidney cancer	1	1	TLN2 (3)	0.01220	1.00000	5.260e-3	6.419e-3	
Aortic valve disease	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	1	1	PIDD1 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Isolated anhidrosis	Kidney cancer	1	1	ITPR2 (3)	0.01220	1.00000	5.260e-3	6.419e-3	
Atrial flutter	Lafora body disease	1	1	PRDM8 (3)	0.01220	1.00000	5.260e-3	6.419e-3	
Kidney cancer	leukodystrophy, hypomyelinating, 25	1	1	TMEM163 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Aortic valve disease	lissencephaly 10	1	1	CEP85L (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Atrial flutter	Trichomegaly	1	1	FGF5 (5)	0.01220	1.00000	5.260e-3	6.419e-3	
Atrial flutter	wiskott-aldrich syndrome 2	1	1	WIPF1 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Neutropenia, nonimmune chronic idiopathic, adult	Obstructive sleep apnea syndrome	1	1	GFI1 (4)	0.01220	1.00000	5.260e-3	6.419e-3	
Aortic valve disease	obsolete Carey-Fineman-Ziter syndrome	1	1	MYMK (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Obstructive sleep apnea syndrome	Pelviscapular dysplasia	1	1	TBX15 (5)	0.01220	1.00000	5.260e-3	6.419e-3	
Obstructive sleep apnea syndrome	primordial dwarfism-immunodeficiency-lipodystrophy syndrome	1	1	PRIM1 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Atrial flutter	Progressive myoclonic epilepsy with intracellular inclusions	1	1	PRDM8 (3)	0.01220	1.00000	5.260e-3	6.419e-3	
hartnup disease	Kidney cancer	1	1	SLC6A19 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
hypomagnesemia, seizures, and intellectual disability 1	Obstructive sleep apnea syndrome	1	1	CNNM2 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Intellectual developmental disorder seizures cerebellar	Kidney cancer	1	1	RORA (4)	0.01220	1.00000	5.260e-3	6.419e-3	
Obstructive sleep apnea syndrome	Tetany	1	1	CNNM2 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
fanconi anemia complementation group d2	Kidney cancer	1	1	FANCD2 (2)	0.01220	1.00000	5.260e-3	6.419e-3	
Tooth agenesis	X-linked hypohidrotic ectodermal dysplasia	1	1	EDA (7)	0.02326	0.50000	5.318e-3	6.488e-3	76
Masp2 deficiency	Neurodegenerative disorder	1	1	TARDBP (2)	0.02326	0.50000	5.318e-3	6.488e-3	
Catel-manzke syndrome	Neurodegenerative disorder	1	1	KYNU (2)	0.02326	0.50000	5.318e-3	6.488e-3	
Bone disease	Caudal duplication anomaly	1	1	AXIN1 (6)	0.01205	1.00000	5.325e-3	6.489e-3	
Bone disease	Cerebrofaciothoracic dysplasia	1	1	TMCO1 (3)	0.01205	1.00000	5.325e-3	6.489e-3	
Bone disease	Cerebrotendinous xanthomatosis	1	1	CYP27A1 (5)	0.01205	1.00000	5.325e-3	6.489e-3	
Bone disease	Cholestanol storage disease	1	1	CYP27A1 (2)	0.01205	1.00000	5.325e-3	6.489e-3	
Braddock-carey syndrome	Idiopathic pulmonary fibrosis	1	1	KIF15 (4)	0.01205	1.00000	5.325e-3	6.489e-3	
Arthrogryposis with ectodermal dysplasia	nonsyndromic genetic hearing loss	1	1	OTOF (2)	0.01205	1.00000	5.325e-3	6.489e-3	
autosomal dominant Robinow syndrome	Idiopathic pulmonary fibrosis	1	1	WNT5A (3)	0.01205	1.00000	5.325e-3	6.489e-3	
Bone disease	cleidocranial dysplasia 2	1	1	CBFB (2)	0.01205	1.00000	5.325e-3	6.489e-3	
21q22.11q22.12 microdeletion syndrome	Idiopathic pulmonary fibrosis	1	1	KIF15 (3)	0.01205	1.00000	5.325e-3	6.489e-3	
dilated cardiomyopathy 1J	nonsyndromic genetic hearing loss	1	0	EYA4 (1)	0.01205	1.00000	5.325e-3	6.489e-3	
Congenital ichthyosis with hypotrichosis syndrome	Idiopathic pulmonary fibrosis	1	1	ST14 (2)	0.01205	1.00000	5.325e-3	6.489e-3	
Cortical dysplasia-focal epilepsy syndrome	Idiopathic pulmonary fibrosis	1	1	CNTNAP2 (4)	0.01205	1.00000	5.325e-3	6.489e-3	
Bone disease	Craniometadiaphyseal osteosclerosis with hip dysplasia	1	1	AXIN1 (4)	0.01205	1.00000	5.325e-3	6.489e-3	
Bone disease	frank-ter haar syndrome	1	1	SH3PXD2B (2)	0.01205	1.00000	5.325e-3	6.489e-3	
Idiopathic pulmonary fibrosis	interstitial lung disease 1	1	1	SFTPA1 (3)	0.01205	1.00000	5.325e-3	6.489e-3	
Idiopathic pulmonary fibrosis	interstitial lung disease 2	1	1	SFTPA2 (5)	0.01205	1.00000	5.325e-3	6.489e-3	
Idiopathic pulmonary fibrosis	isovaleric acidemia	1	1	IVD (2)	0.01205	1.00000	5.325e-3	6.489e-3	
nonsyndromic genetic hearing loss	Peripheral neuropathy myopathy hoarseness hearing loss syndrome	1	1	MYH14 (2)	0.01205	1.00000	5.325e-3	6.489e-3	
nonsyndromic genetic hearing loss	Peripheral neuropathy, myopathy, hoarseness, and hearing	1	1	MYH14 (5)	0.01205	1.00000	5.325e-3	6.489e-3	
nonsyndromic genetic hearing loss	Sensorineural deafness with dilated cardiomyopathy	1	1	EYA4 (3)	0.01205	1.00000	5.325e-3	6.489e-3	
Bone disease	spondyloepimetaphyseal dysplasia, genevieve type	1	1	NANS (2)	0.01205	1.00000	5.325e-3	6.489e-3	
hearing impairment and infertile male syndrome	nonsyndromic genetic hearing loss	1	0	CDC14A (1)	0.01205	1.00000	5.325e-3	6.489e-3	
Age-related macular degeneration	primary angle-closure glaucoma	1	1	SPATA13 (2)	0.01190	1.00000	5.390e-3	6.566e-3	
Age-related macular degeneration	neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	1	1	TNR (2)	0.01190	1.00000	5.390e-3	6.566e-3	
Age-related macular degeneration	Cerebellar vermis atrophy	1	1	SYN3 (2)	0.01190	1.00000	5.390e-3	6.566e-3	
Age-related macular degeneration	diaphyseal medullary stenosis-bone malignancy syndrome	1	1	MTAP (2)	0.01190	1.00000	5.390e-3	6.566e-3	
Age-related macular degeneration	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	1	1	CYP21A2 (5)	0.01190	1.00000	5.390e-3	6.566e-3	
Cardiofaciocutaneous syndrome	Corticobasal degeneration	1	1	SOS1 (3)	0.05263	0.14286	5.444e-3	6.629e-3	49
Adrenal gland neoplasms	Corneal disease	1	0	TCF4 (1)	0.05263	0.14286	5.444e-3	6.629e-3	283
Adrenal gland neoplasms	Paranoia	1	1	TCF4 (2)	0.05263	0.14286	5.444e-3	6.629e-3	283
Congenital pes cavus	hearing loss, autosomal recessive	1	1	PTPRQ (2)	0.05263	0.14286	5.444e-3	6.629e-3	
Bilirubin metabolism disease	Kleine-levin syndrome	1	1	TRANK1 (3)	0.05263	0.14286	5.444e-3	6.629e-3	
Adams-oliver syndrome	Congenital hydrocephalus	1	1	DOCK6 (3)	0.05000	0.16667	5.444e-3	6.629e-3	
Brachydactyly	Chromosome 2q37 deletion syndrome	1	1	HDAC4 (4)	0.04000	0.25000	5.445e-3	6.630e-3	
Hereditary parkinson disease	Juvenile parkinsonism	1	1	PODXL (3)	0.03226	0.33333	5.446e-3	6.630e-3	
Hypertriglyceridemia	Malignant glioma	1	1	LMF1 (2)	0.03226	0.33333	5.446e-3	6.630e-3	
Galactosialidosis	Hypertriglyceridemia	1	1	PLTP (2)	0.03226	0.33333	5.446e-3	6.630e-3	
Intellectual developmental disorder seizures speech	Proteinuria	1	1	PAK1 (4)	0.02273	0.50000	5.448e-3	6.631e-3	20
Brain disease	Whim syndrome	1	1	CXCR2 (5)	0.02273	0.50000	5.448e-3	6.631e-3	
Hypospadias	X-linked myotubular myopathy	1	1	MAMLD1 (6)	0.02273	0.50000	5.448e-3	6.631e-3	
Fetal erythroblastosis	Lupus nephritis	1	0	FCGR2A (1)	0.02273	0.50000	5.448e-3	6.631e-3	
Brain disease	Cystic leukoencephalopathy	1	1	RNASET2 (5)	0.02273	0.50000	5.448e-3	6.631e-3	
Anemia	Congenital folate absorption defect	1	1	SLC46A1 (3)	0.01176	1.00000	5.455e-3	6.633e-3	
Anemia	Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	1	0	ITGA3 (1)	0.01176	1.00000	5.455e-3	6.633e-3	
Anemia	Congenital phimosis	1	0	ITGA3 (1)	0.01176	1.00000	5.455e-3	6.633e-3	
Albinism	Skin cancer	1	1	TPCN2 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Anemia	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	1	1	ITGA3 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Cardiomegaly	HAND2 related congenital heart defect	1	1	HAND2 (2)	0.01176	1.00000	5.455e-3	6.633e-3	372
obsolete antenatal Bartter syndrome	Skin cancer	1	1	SLC12A1 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Cardiomegaly	Isolated anhidrosis	1	1	ITPR2 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Anemia	Malabsorption syndrome	1	1	SLC46A1 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Cerebrovascular disorder	platelet-type bleeding disorder 8	1	1	P2RY12 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Cardiomegaly	PLD1-related congenital heart disease	1	1	PLD1 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Cardiomegaly	polyglucosan body myopathy 1 with or without immunodeficiency	1	1	RBCK1 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Cerebrovascular disorder	PRPF8-related retinopathy	1	1	PRPF8 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Anemia	Serrated polyposis	1	1	RNF43 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Anemia	sessile serrated polyposis cancer syndrome	1	1	RNF43 (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Anemia	spinocerebellar ataxia, autosomal recessive 31	1	1	ATG7 (3)	0.01176	1.00000	5.455e-3	6.633e-3	
Cardiomegaly	thrombocytopenia 6	1	1	SRC (2)	0.01176	1.00000	5.455e-3	6.633e-3	
histidinemia	Skin cancer	1	1	HAL (2)	0.01176	1.00000	5.455e-3	6.633e-3	16
Cardiomegaly	immunodeficiency 97 with autoinflammation	1	1	PIK3CG (2)	0.01176	1.00000	5.455e-3	6.633e-3	
Coffin-siris syndrome	Upper extremity fracture	1	1	ARID1A (6)	0.04545	0.20000	5.509e-3	6.698e-3	
Hepatic veno occlusive disease with immunodeficiency	Leukemia	1	1	SP140 (2)	0.02222	0.50000	5.578e-3	6.780e-3	
Nasopharyngeal neoplasms	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	1	1	TREM2 (7)	0.02222	0.50000	5.578e-3	6.780e-3	
Marfan syndrome	Progressive arterial occlusive disease with hypertension	1	1	YY1AP1 (2)	0.02222	0.50000	5.578e-3	6.780e-3	
Fatty liver, alcoholic	Urban-schosser-spohr syndrome	1	0	SREBF1 (1)	0.01149	1.00000	5.585e-3	6.786e-3	
Fatty liver, alcoholic	X-linked ichthyosis with steryl-sulfatase deficiency	1	1	STS (2)	0.01149	1.00000	5.585e-3	6.786e-3	
Fatty liver, alcoholic	Oxysterol accumulation disorder	1	1	CYP7B1 (2)	0.01149	1.00000	5.585e-3	6.786e-3	
Fatty liver, alcoholic	mitochondrial trifunctional protein deficiency	1	1	HADHB (2)	0.01149	1.00000	5.585e-3	6.786e-3	
Fatty liver, alcoholic	Mucoepithelial dysplasia	1	1	SREBF1 (2)	0.01149	1.00000	5.585e-3	6.786e-3	
Fatty liver, alcoholic	long chain 3-hydroxyacyl-coa dehydrogenase deficiency	1	1	HADHA (2)	0.01149	1.00000	5.585e-3	6.786e-3	
Abetalipoproteinemia	Fatty liver, alcoholic	1	1	MTTP (2)	0.01149	1.00000	5.585e-3	6.786e-3	
Corticosteroid-binding globulin deficiency	Fatty liver, alcoholic	1	1	SERPINA6 (6)	0.01149	1.00000	5.585e-3	6.786e-3	
CYP7B1-related disorder of oxysterol accumulation	Fatty liver, alcoholic	1	1	CYP7B1 (2)	0.01149	1.00000	5.585e-3	6.786e-3	
Congenital myasthenic syndrome	Cystine urolithiasis	1	1	PREPL (2)	0.03125	0.33333	5.640e-3	6.852e-3	
Mitochondrial dna depletion syndrome	Navajo neurohepatopathy	1	1	MPV17 (5)	0.03125	0.33333	5.640e-3	6.852e-3	
Brain aneurysm	Uterine benign neoplasm	1	0	BET1L (1)	0.01136	1.00000	5.650e-3	6.862e-3	
Brain aneurysm	primary ciliary dyskinesia 12	1	1	RSPH9 (2)	0.01136	1.00000	5.650e-3	6.862e-3	
Brain aneurysm	holocarboxylase synthetase deficiency	1	1	HLCS (2)	0.01136	1.00000	5.650e-3	6.862e-3	272
Brain aneurysm	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	1	1	GBA1 (4)	0.01136	1.00000	5.650e-3	6.862e-3	
Brain aneurysm	Tongue disorder	1	0	ESRRG (1)	0.01136	1.00000	5.650e-3	6.862e-3	
Brain aneurysm	Cerebellar vermis atrophy	1	1	SYN3 (2)	0.01136	1.00000	5.650e-3	6.862e-3	
Congenital chloride diarrhea	Iron metabolism disorder	1	1	MON1A (2)	0.03846	0.25000	5.703e-3	6.926e-3	
Obstructive azoospermia	Sinusitis	1	1	CFTR (2)	0.03846	0.25000	5.703e-3	6.926e-3	
Macular dystrophy	Thyroid hormone resistance	1	1	THRB (5)	0.02174	0.50000	5.707e-3	6.929e-3	
Congenital cataract hearing loss developmental delay syndrome	Partial epilepsy	1	1	SLC33A1 (3)	0.02174	0.50000	5.707e-3	6.929e-3	223
Diaphragm disease	Salivary gland neoplasms	1	1	WNT5B (2)	0.02174	0.50000	5.707e-3	6.929e-3	
Conjunctival disease	Salivary gland neoplasms	1	1	DAPK1 (2)	0.02174	0.50000	5.707e-3	6.929e-3	
ATP6AP2-related disorder	Intellectual developmental disorder, x-linked	1	1	ATP6AP2 (4)	0.01111	1.00000	5.780e-3	7.000e-3	
Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome	Hyperalgesia	1	1	HMGB1 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Developmental delay with intellectual disability and obesity	Intellectual developmental disorder, x-linked	1	1	PHIP (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Chung-jansen syndrome	Intellectual developmental disorder, x-linked	1	1	PHIP (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Common atrium	Dupuytren contracture	1	1	CDK8 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
congenital disorder of glycosylation type II	Intellectual developmental disorder, x-linked	1	1	ATP6AP1 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Aarskog-scott syndrome, x-linked	Intellectual developmental disorder, x-linked	1	1	FGD1 (3)	0.01111	1.00000	5.780e-3	7.000e-3	
Dupuytren contracture	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	1	1	DDR2 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	syndromic X-linked intellectual disability Nascimento type	1	1	UBE2A (4)	0.01111	1.00000	5.780e-3	7.000e-3	129
Intellectual developmental disorder, x-linked	syndromic X-linked intellectual disability Raymond type	1	1	ZDHHC9 (4)	0.01111	1.00000	5.780e-3	7.000e-3	129
Intellectual developmental disorder, x-linked	syndromic X-linked intellectual disability Siderius type	1	1	PHF8 (2)	0.01111	1.00000	5.780e-3	7.000e-3	129
Intellectual developmental disorder, x-linked	syndromic X-linked intellectual disability Snyder type	1	1	SMS (3)	0.01111	1.00000	5.780e-3	7.000e-3	
Dupuytren contracture	temtamy preaxial brachydactyly syndrome	1	1	CHSY1 (2)	0.01111	1.00000	5.780e-3	7.000e-3	303
Dupuytren contracture	neuropathy, hereditary sensory, type 1D	1	1	ATL1 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	Parkinsonism with cognitive impairment	1	1	RAB39B (5)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	Parkinsonism with spasticity, x-linked	1	1	ATP6AP2 (3)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	1	1	PHIP (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Early-onset parkinsonism-intellectual disability syndrome	Intellectual developmental disorder, x-linked	1	1	RAB39B (7)	0.01111	1.00000	5.780e-3	7.000e-3	
Erythrocyte amp deaminase deficiency	Hemorrhoid	1	1	AMPD3 (5)	0.01111	1.00000	5.780e-3	7.000e-3	
fanconi anemia complementation group b	Intellectual developmental disorder, x-linked	1	1	FANCB (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Hemorrhoid	MERTK-related retinopathy	1	1	MERTK (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Hemorrhoid	myopathy, centronuclear, 6, with fiber-type disproportion	1	1	MAP3K20 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	Vacterl-hydrocephalus syndrome	1	0	FANCB (1)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	Waisman syndrome	1	1	RAB39B (5)	0.01111	1.00000	5.780e-3	7.000e-3	
Dupuytren contracture	Warburg-cinotti syndrome	1	1	DDR2 (5)	0.01111	1.00000	5.780e-3	7.000e-3	
Dupuytren contracture	Winchester syndrome	1	1	MMP14 (6)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked dystonia-parkinsonism	1	1	TAF1 (7)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked epilepsy with learning disability and behavior disorder syndrome	1	1	SYN1 (4)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked epilepsy with variable learning disabilities and behavior disorders	1	1	SYN1 (5)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked epilepsy-learning disabilities-behavior disorders syndrome	1	1	SYN1 (5)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	1	1	USP9X (6)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia	1	1	MAGT1 (5)	0.01111	1.00000	5.780e-3	7.000e-3	129
Intellectual developmental disorder, x-linked	X-linked intellectual disability, Cabezas type	1	1	CUL4B (4)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked myopathy with excessive autophagy	1	1	RPL10 (6)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	X-linked parkinsonism-spasticity syndrome	1	1	ATP6AP2 (6)	0.01111	1.00000	5.780e-3	7.000e-3	
Hemorrhoid	hereditary mixed polyposis syndrome	1	1	GREM1 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Intellectual developmental disorder, x-linked	intellectual disability, X-linked 106	1	1	OGT (5)	0.01111	1.00000	5.780e-3	7.000e-3	129
Intellectual developmental disorder, x-linked	intellectual disability, X-linked 107	1	1	STEEP1 (5)	0.01111	1.00000	5.780e-3	7.000e-3	
Hemorrhoid	Intestinal dysmotility syndrome	1	1	ANO1 (4)	0.01111	1.00000	5.780e-3	7.000e-3	
Dupuytren contracture	macular corneal dystrophy	1	1	CHST6 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome	Hyperalgesia	1	1	HMGB1 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
hsd10 mitochondrial disease	Intellectual developmental disorder, x-linked	1	1	HSD17B10 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Hemorrhoid	ichthyosiform erythroderma, corneal involvement, and hearing loss	1	1	AP1B1 (2)	0.01111	1.00000	5.780e-3	7.000e-3	
Dupuytren contracture	Intellectual developmental disorder hypotonia behavioral	1	1	CDK8 (4)	0.01111	1.00000	5.780e-3	7.000e-3	
Congenital heart malformation	Semilobar holoprosencephaly	1	1	FOXH1 (3)	0.04348	0.20000	5.832e-3	7.053e-3	110
Cerebellar atrophy	Marinesco-sjogren syndrome	1	1	SIL1 (6)	0.03030	0.33333	5.834e-3	7.053e-3	
Non-immune hydrops fetalis	Noonan syndrome-like disorder with loose anagen hair	1	1	SHOC2 (2)	0.02128	0.50000	5.837e-3	7.053e-3	49
Fetal erythroblastosis	Thrombosis	1	1	FCGR2A (2)	0.02128	0.50000	5.837e-3	7.053e-3	36
Bronchopulmonary dysplasia	Chromosome 16p11.2 deletion syndrome	1	0	SFTPA1 (1)	0.02128	0.50000	5.837e-3	7.053e-3	
congenital myopathy with myasthenic-like onset	Gestational diabetes	1	1	PAX7 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 36, x-linked	1	1	DNAAF6 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	ciliary dyskinesia, primary, 38	1	1	CFAP300 (7)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 40	1	1	DNAH9 (6)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 41	1	1	GAS2L2 (6)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 42	1	1	MCIDAS (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	ciliary dyskinesia, primary, 43	1	1	FOXJ1 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	ciliary dyskinesia, primary, 44	1	1	NEK10 (6)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 45	1	1	TTC12 (6)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 46	1	1	STK36 (6)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 47, and lissencephaly	1	1	TP73 (4)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	ciliary dyskinesia, primary, 48, without situs inversus	1	1	NME5 (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	ciliary dyskinesia, primary, 49, without situs inversus	1	1	CFAP74 (5)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	ciliary dyskinesia, primary, 53	1	1	CLXN (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	ciliary dyskinesia, primary, 54	1	1	CFAP54 (4)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	Cohen syndrome	1	1	VPS13B (7)	0.01099	1.00000	5.845e-3	7.053e-3	
Brachial plexus neuritis	Gestational diabetes	1	1	SEPTIN9 (3)	0.01099	1.00000	5.845e-3	7.053e-3	
Deafness and myopia	Gestational diabetes	1	1	SLITRK6 (4)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	dilated cardiomyopathy 1FF	1	1	TNNI3 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	dilated cardiomyopathy 2A	1	1	TNNI3 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Gestational diabetes	high myopia-sensorineural deafness syndrome	1	1	SLITRK6 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	spermatogenic failure 18	1	1	DNAH1 (6)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	spermatogenic failure 46	1	1	DNAH8 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	spermatogenic failure 56	1	1	DNAH10 (3)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 1	1	1	DNAI1 (5)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 10	1	1	DNAAF2 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 11	1	1	RSPH4A (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 12	1	1	RSPH9 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 13	1	1	DNAAF1 (6)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 14	1	1	CCDC39 (7)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 16	1	1	DNAL1 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 17	1	1	DNAAF19 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 18	1	1	DNAAF5 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 19	1	1	DNAAF11 (7)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 2	1	1	DNAAF3 (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 20	1	1	ODAD1 (7)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 21	1	1	DRC1 (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 22	1	1	ZMYND10 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 23	1	1	ODAD2 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 24	1	1	RSPH1 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 25	1	1	DNAAF4 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 26	1	1	CFAP298 (8)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 27	1	1	DRC2 (5)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 28	1	1	SPAG1 (8)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 29	1	1	CCNO (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 30	1	1	ODAD3 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 32	1	1	RSPH3 (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 33	1	1	DRC4 (7)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 34	1	1	DNAJB13 (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Ciliary dyskinesia	primary ciliary dyskinesia 35	1	1	ODAD4 (7)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 5	1	1	HYDIN (7)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	primary ciliary dyskinesia 9	1	1	DNAI2 (6)	0.01099	1.00000	5.845e-3	7.053e-3	9
Gestational diabetes	Prolidase deficiency	1	1	PEPD (3)	0.01099	1.00000	5.845e-3	7.053e-3	
Gestational diabetes	renal hypomagnesemia 3	1	1	CLDN16 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Gestational diabetes	maple syrup urine disease, mild variant	1	1	PPM1K (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Gestational diabetes	Neuralgic amyotrophy	1	1	SEPTIN9 (4)	0.01099	1.00000	5.845e-3	7.053e-3	
Gestational diabetes	intellectual developmental disorder with speech delay and axonal peripheral neuropathy	1	1	NEMF (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Gestational diabetes	TSPAN12-related exudative vitreoretinopathy	1	1	TSPAN12 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Ciliary dyskinesia	Young syndrome	1	1	CFAP221 (5)	0.01099	1.00000	5.845e-3	7.053e-3	
gaze palsy, familial horizontal, with progressive scoliosis 1	Gestational diabetes	1	1	ROBO3 (2)	0.01099	1.00000	5.845e-3	7.053e-3	
genitourinary and/or brain malformation syndrome	Gestational diabetes	1	1	PPP1R12A (2)	0.01099	1.00000	5.845e-3	7.053e-3	182
Ciliary dyskinesia	glutaryl-CoA dehydrogenase deficiency	1	1	GCDH (2)	0.01099	1.00000	5.845e-3	7.053e-3	
Epidermodysplasia verruciformis	Thyroid gland neoplasms	1	1	RHOH (4)	0.05000	0.14286	5.896e-3	7.114e-3	
Optic neuritis	Sensory peripheral neuropathy	1	0	ATP7B (1)	0.05000	0.14286	5.896e-3	7.114e-3	
Corticobasal degeneration	Costello syndrome	1	1	SOS1 (3)	0.05000	0.14286	5.896e-3	7.114e-3	49
Congenital sialidosis	Small cell lung carcinoma	1	1	NEU1 (3)	0.01087	1.00000	5.910e-3	7.129e-3	
ciliary dyskinesia, primary, 47, and lissencephaly	Small cell lung carcinoma	1	1	TP73 (2)	0.01087	1.00000	5.910e-3	7.129e-3	
Sialidosis	Small cell lung carcinoma	1	1	NEU1 (6)	0.01087	1.00000	5.910e-3	7.129e-3	
Nasopalpebral lipoma-coloboma syndrome	Small cell lung carcinoma	1	1	ZDBF2 (3)	0.01087	1.00000	5.910e-3	7.129e-3	214
Chromosomal disorder	Nasal disorder	1	0	COBL (1)	0.03704	0.25000	5.962e-3	7.191e-3	
Cerebral palsy	Congenital anosmia	1	1	TENM1 (2)	0.02083	0.50000	5.966e-3	7.191e-3	
Anosmia	Cerebral palsy	1	1	TENM1 (2)	0.02083	0.50000	5.966e-3	7.191e-3	
Aortic valve stenosis	Retinal detachment	1	0	ANKRD7 (1)	0.02083	0.50000	5.966e-3	7.191e-3	
Autonomic nervous system disease	Immune system disease	1	0	ELMO1 (1)	0.02083	0.50000	5.966e-3	7.191e-3	
Conjunctival disease	Myelodysplastic syndrome	1	1	DAPK1 (2)	0.02083	0.50000	5.966e-3	7.191e-3	
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Thyroid neoplasms	1	1	TPR (2)	0.02083	0.50000	5.966e-3	7.191e-3	
Encephalopathy due to mitochondrial and peroxisomal fission defect	Ventricular dysfunction	1	1	MFF (2)	0.02083	0.50000	5.966e-3	7.191e-3	
Primary hypertrophic osteoarthropathy	Thyroid neoplasms	1	1	HPGD (6)	0.02083	0.50000	5.966e-3	7.191e-3	
Hemorrhagic stroke	Thyroid neoplasms	1	1	PDGFA (2)	0.02083	0.50000	5.966e-3	7.191e-3	
Myelodysplastic syndrome	Temple syndrome	1	1	DLK1 (3)	0.02083	0.50000	5.966e-3	7.191e-3	
Urticaria	Vitreous body disease	1	0	CNTRL (1)	0.02083	0.50000	5.966e-3	7.191e-3	
Intellectual developmental disorder seizures speech	Thyroid neoplasms	1	1	PAK1 (4)	0.02083	0.50000	5.966e-3	7.191e-3	
Congenital microcephaly	Pseudo-torch syndrome	1	1	OCLN (6)	0.02941	0.33333	6.028e-3	7.265e-3	
Distal spinal muscular atrophy	multiple acyl-CoA dehydrogenase deficiency	1	1	ETFDH (2)	0.02941	0.33333	6.028e-3	7.265e-3	13
Auditory neuropathy	Genetic neurodegenerative disease	1	0	KIF5A (1)	0.02941	0.33333	6.028e-3	7.265e-3	
Digestive system disease	Intestinal dysmotility syndrome	1	1	ANO1 (4)	0.01064	1.00000	6.040e-3	7.273e-3	
Digestive system disease	Isolated anhidrosis	1	1	ITPR2 (3)	0.01064	1.00000	6.040e-3	7.273e-3	
Fatty liver	long chain 3-hydroxyacyl-coa dehydrogenase deficiency	1	1	HADHA (2)	0.01064	1.00000	6.040e-3	7.273e-3	
Digestive system disease	nizon-isidor syndrome	1	1	MED12L (2)	0.01064	1.00000	6.040e-3	7.273e-3	
Fatty liver	mitochondrial trifunctional protein deficiency	1	1	HADHB (3)	0.01064	1.00000	6.040e-3	7.273e-3	
Fatty liver	Mucoepithelial dysplasia	1	1	SREBF1 (3)	0.01064	1.00000	6.040e-3	7.273e-3	
Digestive system disease	nephrotic syndrome 14	1	1	SGPL1 (2)	0.01064	1.00000	6.040e-3	7.273e-3	
Fatty liver	Urban-schosser-spohr syndrome	1	1	SREBF1 (2)	0.01064	1.00000	6.040e-3	7.273e-3	
Fatty liver	X-linked ichthyosis with steryl-sulfatase deficiency	1	1	STS (3)	0.01064	1.00000	6.040e-3	7.273e-3	
C syndrome	Digestive system disease	1	1	CD96 (7)	0.01064	1.00000	6.040e-3	7.273e-3	
Abetalipoproteinemia	Fatty liver	1	1	MTTP (3)	0.01064	1.00000	6.040e-3	7.273e-3	
congenital disorder of glycosylation, type iit	Fatty liver	1	1	GALNT2 (2)	0.01064	1.00000	6.040e-3	7.273e-3	
Corticosteroid-binding globulin deficiency	Fatty liver	1	1	SERPINA6 (6)	0.01064	1.00000	6.040e-3	7.273e-3	
Axonal neuropathy	Digestive system disease	1	0	GBF1 (1)	0.01064	1.00000	6.040e-3	7.273e-3	
diaphyseal medullary stenosis-bone malignancy syndrome	Digestive system disease	1	1	MTAP (2)	0.01064	1.00000	6.040e-3	7.273e-3	
Digestive system disease	Dock2 deficiency	1	1	DOCK2 (4)	0.01064	1.00000	6.040e-3	7.273e-3	
Camos syndrome	Mitral valve prolapse	1	1	ZNF592 (2)	0.02041	0.50000	6.096e-3	7.337e-3	
Lafora disease	Rolandic epilepsy	1	1	EPM2A (4)	0.02041	0.50000	6.096e-3	7.337e-3	
Lymphatic system disease	Rolandic epilepsy	1	0	PTPRM (1)	0.02041	0.50000	6.096e-3	7.337e-3	
Genetic recurrent myoglobinuria	Neoplasms	1	1	LPIN1 (2)	0.02041	0.50000	6.096e-3	7.337e-3	
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	Rolandic epilepsy	1	1	IER3IP1 (3)	0.02041	0.50000	6.096e-3	7.337e-3	
Microcephaly, epilepsy, and diabetes syndrome	Rolandic epilepsy	1	1	IER3IP1 (5)	0.02041	0.50000	6.096e-3	7.337e-3	
Eye disease	Troyer syndrome	1	1	SPART (4)	0.01053	1.00000	6.105e-3	7.347e-3	
Eye disease	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	1	1	ALPK1 (2)	0.01053	1.00000	6.105e-3	7.347e-3	
Eye disease	RLBP1-related retinopathy	1	1	RLBP1 (3)	0.01053	1.00000	6.105e-3	7.347e-3	
Bothnia retinal dystrophy	Eye disease	1	1	RLBP1 (6)	0.01053	1.00000	6.105e-3	7.347e-3	
Brain cancer	Burkitt lymphoma	1	1	CCT6B (2)	0.04167	0.20000	6.155e-3	7.407e-3	
Brain cancer	Periodontal disease	1	0	FCHO2 (1)	0.04167	0.20000	6.155e-3	7.407e-3	
Deafness and myopia	Lewy body disease	1	1	SLITRK6 (4)	0.01042	1.00000	6.170e-3	7.421e-3	
2-methylbutyryl-coa dehydrogenase deficiency	Lewy body disease	1	1	ACADSB (5)	0.01042	1.00000	6.170e-3	7.421e-3	
HAVCR2-related cancer predisposition	Lewy body disease	1	1	HAVCR2 (2)	0.01042	1.00000	6.170e-3	7.421e-3	
hereditary sensory and autonomic neuropathy type 4	Lewy body disease	1	1	NTRK1 (3)	0.01042	1.00000	6.170e-3	7.421e-3	
hermansky-pudlak syndrome 5	Lewy body disease	1	1	HPS5 (2)	0.01042	1.00000	6.170e-3	7.421e-3	
high myopia-sensorineural deafness syndrome	Lewy body disease	1	1	SLITRK6 (2)	0.01042	1.00000	6.170e-3	7.421e-3	
Hypochromic sideroblastic anemia	Lewy body disease	1	1	STEAP3 (6)	0.01042	1.00000	6.170e-3	7.421e-3	
immunodeficiency 122	Lewy body disease	1	1	POLD3 (2)	0.01042	1.00000	6.170e-3	7.421e-3	
Hydrops fetalis	Monomelic amyotrophy	1	0	RYR3 (1)	0.04545	0.16667	6.219e-3	7.480e-3	
Very long chain acyl-coa dehydrogenase deficiency	Williams syndrome	1	1	DLG4 (2)	0.03571	0.25000	6.221e-3	7.481e-3	
Chromosome 2q37 deletion syndrome	Mixed connective tissue disease	1	1	HDAC4 (5)	0.03571	0.25000	6.221e-3	7.481e-3	
Acid-base disorder	Genetic predisposition to disease	1	1	ADH1B (2)	0.02000	0.50000	6.225e-3	7.486e-3	
Bifid uvula	Neural tube defect	1	1	GRHL3 (2)	0.02000	0.50000	6.225e-3	7.486e-3	
Albinism	Glomerulonephritis	1	1	TPCN2 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Antibody deficiency	Glomerulonephritis	1	1	CD19 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
developmental and epileptic encephalopathy, 41	Essential tremor	1	1	SLC1A2 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Carnosinase deficiency	Glomerulonephritis	1	0	CNDP1 (1)	0.01020	1.00000	6.300e-3	7.567e-3	
Carnosinemia	Glomerulonephritis	1	0	CNDP1 (1)	0.01020	1.00000	6.300e-3	7.567e-3	
Chromosome 2p16.3 deletion syndrome	Glomerulonephritis	1	1	NRXN1 (3)	0.01020	1.00000	6.300e-3	7.567e-3	
Autoinflammation with arthritis and dyskeratosis	Essential tremor	1	1	NLRP1 (5)	0.01020	1.00000	6.300e-3	7.567e-3	
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Essential tremor	1	1	NLRP1 (4)	0.01020	1.00000	6.300e-3	7.567e-3	
Glomerulonephritis	immunodeficiency, common variable, 3	1	1	CD19 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Glomerulonephritis	phosphohydroxylysinuria	1	1	PHYKPL (2)	0.01020	1.00000	6.300e-3	7.567e-3	46
Glomerulonephritis	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	1	1	ZCCHC8 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Glomerulonephritis	Retrograde amnesia	1	1	PREP (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Glomerulonephritis	1	1	UCHL1 (4)	0.01020	1.00000	6.300e-3	7.567e-3	
Glomerulonephritis	Microscopic polyangiitis	1	0	CDH19 (1)	0.01020	1.00000	6.300e-3	7.567e-3	46
Essential tremor	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	1	1	GEMIN5 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Essential tremor	Serrated polyposis	1	1	RNF43 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Essential tremor	sessile serrated polyposis cancer syndrome	1	1	RNF43 (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Glomerulonephritis	systemic lupus erythematosus related to C1QA	1	1	C1QA (2)	0.01020	1.00000	6.300e-3	7.567e-3	
Essential tremor	Tongue disorder	1	0	ESRRG (1)	0.01020	1.00000	6.300e-3	7.567e-3	
Cholangitis	Epidermodysplasia verruciformis	1	1	MST1 (3)	0.04762	0.14286	6.348e-3	7.625e-3	
Adrenal gland neoplasms	Congenital epicanthus	1	1	TCF4 (2)	0.04762	0.14286	6.348e-3	7.625e-3	
Cystic leukoencephalopathy	Lynch syndrome	1	1	RNASET2 (4)	0.01961	0.50000	6.355e-3	7.630e-3	39
Congenital cerebellar ataxia	Differentiated thyroid carcinoma	1	1	GRM1 (2)	0.01961	0.50000	6.355e-3	7.630e-3	
Congenital epithelial dysplasia of intestine	Lynch syndrome	1	1	EPCAM (8)	0.01961	0.50000	6.355e-3	7.630e-3	
Interstitial nephritis	Lynch syndrome	1	1	FAN1 (5)	0.01961	0.50000	6.355e-3	7.630e-3	
Lynch syndrome	Sveinsson chorioretinal atrophy	1	1	SEMA4A (2)	0.01961	0.50000	6.355e-3	7.630e-3	
Factor x deficiency	Preeclampsia	1	1	F10 (4)	0.01010	1.00000	6.364e-3	7.636e-3	
frank-ter haar syndrome	Preeclampsia	1	1	SH3PXD2B (2)	0.01010	1.00000	6.364e-3	7.636e-3	
Cardiac arrhythmia	polyglucosan body myopathy type 2	1	1	GYG1 (3)	0.01010	1.00000	6.364e-3	7.636e-3	
Cardiac arrhythmia	Progressive myoclonic epilepsy with intracellular inclusions	1	1	PRDM8 (3)	0.01010	1.00000	6.364e-3	7.636e-3	
Cardiac arrhythmia	Trichomegaly	1	1	FGF5 (5)	0.01010	1.00000	6.364e-3	7.636e-3	
Preeclampsia	Zaki syndrome	1	1	WLS (3)	0.01010	1.00000	6.364e-3	7.636e-3	73
Cardiac arrhythmia	intrinsic cardiomyopathy	1	1	PLN (2)	0.01010	1.00000	6.364e-3	7.636e-3	3
Cardiac arrhythmia	Lafora body disease	1	1	PRDM8 (3)	0.01010	1.00000	6.364e-3	7.636e-3	
Cardiac arrhythmia	ornithine translocase deficiency	1	1	SLC25A15 (2)	0.01010	1.00000	6.364e-3	7.636e-3	
multiple congenital anomalies-hypotonia-seizures syndrome 1	Preeclampsia	1	1	PIGN (2)	0.01010	1.00000	6.364e-3	7.636e-3	
Neurodegeneration peripheral neuropathy syndrome	Preeclampsia	1	1	CLCN6 (2)	0.01010	1.00000	6.364e-3	7.636e-3	
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	Preeclampsia	1	1	CLCN6 (2)	0.01010	1.00000	6.364e-3	7.636e-3	
Alanine-glyoxylate aminotransferase deficiency	Cardiac arrhythmia	1	1	AGXT (3)	0.01010	1.00000	6.364e-3	7.636e-3	
Boudin-mortier syndrome	Preeclampsia	1	1	NPR3 (4)	0.01010	1.00000	6.364e-3	7.636e-3	
Congenital factor x deficiency	Preeclampsia	1	1	F10 (4)	0.01010	1.00000	6.364e-3	7.636e-3	
Atrial and intestinal dysrhythmia	Cardiac arrhythmia	1	1	SGO1 (6)	0.01010	1.00000	6.364e-3	7.636e-3	
Auditory system disease	Thyroid carcinoma	1	0	VAV3 (1)	0.05000	0.11111	6.413e-3	7.688e-3	
ATP6AP2-related disorder	Congenital disorder of glycosylation	1	1	ATP6AP2 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
B4GALT1-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	B4GALT1 (6)	0.01000	1.00000	6.429e-3	7.688e-3	
COG1-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	COG1 (7)	0.01000	1.00000	6.429e-3	7.688e-3	5
COG4-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	COG4 (7)	0.01000	1.00000	6.429e-3	7.688e-3	
COG5-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	COG5 (7)	0.01000	1.00000	6.429e-3	7.688e-3	5
COG6-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	COG6 (6)	0.01000	1.00000	6.429e-3	7.688e-3	
COG7-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	COG7 (7)	0.01000	1.00000	6.429e-3	7.688e-3	5
COG8-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	COG8 (7)	0.01000	1.00000	6.429e-3	7.688e-3	5
Combined low ldl and fibrinogen	Congenital disorder of glycosylation	1	1	B4GALT1 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	congenital disorder of glycosylation type 1E	1	1	DPM1 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	congenital disorder of glycosylation type II	1	1	ATP6AP1 (3)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	congenital disorder of glycosylation with defective fucosylation 1	1	1	FUT8 (4)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	congenital disorder of glycosylation with defective fucosylation 2	1	1	FCSK (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	congenital disorder of glycosylation, type 2v	1	1	EDEM3 (4)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	congenital disorder of glycosylation, type IIq	1	1	COG2 (7)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	congenital disorder of glycosylation, type iit	1	1	GALNT2 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	congenital disorder of glycosylation, type IIz	1	1	CAMLG (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	congenital disorder of glycosylation, type Iw, autosomal dominant	1	1	STT3A (5)	0.01000	1.00000	6.429e-3	7.688e-3	
A4GALT-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	A4GALT (2)	0.01000	1.00000	6.429e-3	7.688e-3	
acute intermittent porphyria	Congenital disorder of glycosylation	1	1	HMBS (2)	0.01000	1.00000	6.429e-3	7.688e-3	
ALG1-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	ALG1 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
ALG11-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	ALG11 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
ALG12-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	ALG12 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
ALG2-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	ALG2 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
ALG3-congenital disorder of glycosylation	Congenital disorder of glycosylation	1	1	ALG3 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
ALG6-congenital disorder of glycosylation 1C	Congenital disorder of glycosylation	1	1	ALG6 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
ALG9-associated autosomal dominant polycystic kidney disease	Congenital disorder of glycosylation	1	1	ALG9 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	congenital muscular dystrophy with intellectual disability and severe epilepsy	1	1	DPM2 (4)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	DDOST-congenital disorder of glycosylation	1	1	DDOST (7)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	Developmental delay and seizures	1	1	DHDDS (4)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	DHDDS-CDG	1	1	DHDDS (2)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	DK1-congenital disorder of glycosylation	1	1	DOLK (6)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	dowling-degos disease 2	1	0	POFUT1 (1)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	DPAGT1-congenital disorder of glycosylation	1	1	DPAGT1 (6)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	DPM3-congenital disorder of glycosylation	1	1	DPM3 (4)	0.01000	1.00000	6.429e-3	7.688e-3	5
Charcot-Marie-Tooth disease, demyelinating, type 1J	Graves disease	1	1	ITPR3 (2)	0.01000	1.00000	6.429e-3	7.688e-3	309
Congenital disorder of glycosylation	MAN1B1-congenital disorder of glycosylation	1	1	MAN1B1 (2)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	MAN2B2 deficiency	1	1	MAN2B2 (4)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	MGAT2-congenital disorder of glycosylation	1	1	MGAT2 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	microcephalic osteodysplastic dysplasia, Saul-Wilson type	1	1	COG4 (7)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	MOGS-congenital disorder of glycosylation	1	1	MOGS (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	MPDU1-congenital disorder of glycosylation	1	1	MPDU1 (6)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	MPI-congenital disorder of glycosylation	1	1	MPI (6)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	PGM1-congenital disorder of glycosylation	1	1	PGM1 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	RFT1-congenital disorder of glycosylation	1	1	RFT1 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	Sandestig-stefanova syndrome	1	1	NUP188 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
epidermodysplasia verruciformis, susceptibility to, 4	Graves disease	1	1	RHOH (2)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	Saul-wilson syndrome	1	1	COG4 (7)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	SLC35A1-congenital disorder of glycosylation	1	1	SLC35A1 (5)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	SRD5A3-congenital disorder of glycosylation	1	1	SRD5A3 (6)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	STT3A-congenital disorder of glycosylation	1	1	STT3A (5)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	TMEM165-congenital disorder of glycosylation	1	1	TMEM165 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	Intellectual developmental disorder seizures behavioral	1	1	ALG14 (4)	0.01000	1.00000	6.429e-3	7.688e-3	5
Congenital disorder of glycosylation	Parkinsonism with spasticity, x-linked	1	1	ATP6AP2 (5)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia	1	1	MAGT1 (6)	0.01000	1.00000	6.429e-3	7.688e-3	
Graves disease	X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia	1	1	MAGT1 (6)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	X-linked parkinsonism-spasticity syndrome	1	1	ATP6AP2 (6)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	Intermittent porphyria	1	1	HMBS (2)	0.01000	1.00000	6.429e-3	7.688e-3	
Congenital disorder of glycosylation	leukocyte adhesion deficiency type II	1	1	SLC35C1 (4)	0.01000	1.00000	6.429e-3	7.688e-3	
Promyelocytic leukemia	Specific granule deficiency	1	1	CEBPE (5)	0.01923	0.50000	6.484e-3	7.752e-3	
Deafness-infertility syndrome	Hereditary hearing loss	1	1	STRC (3)	0.01923	0.50000	6.484e-3	7.752e-3	
Deafness, sensorineural, and male infertility	Hereditary hearing loss	1	1	STRC (3)	0.01923	0.50000	6.484e-3	7.752e-3	
Dementia in huntington’s disease	Small vessel stroke	1	1	JPH3 (2)	0.01923	0.50000	6.484e-3	7.752e-3	
Adenoid cystic carcinoma	Developmental delay with hypotonia and behavioral abnormalities	1	1	SRCAP (5)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	Developmental delay with hypotonia and impaired language	1	1	FBXW7 (5)	0.00990	1.00000	6.494e-3	7.756e-3	
Birbeck granule deficiency	Seasonal allergic rhinitis	1	1	CD207 (4)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	autosomal dominant combined immunodeficiency due to ERBIN deficiency	1	1	ERBIN (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Bartter disease type 4A	Seasonal allergic rhinitis	1	1	BSND (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Seasonal allergic rhinitis	Sensorineural deafness with renal dysfunction	1	1	BSND (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	severe combined immunodeficiency due to DNA-PKcs deficiency	1	1	PRKDC (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	Shukla-vernon syndrome	1	1	BCORL1 (5)	0.00990	1.00000	6.494e-3	7.756e-3	
Obstructive airway disease	surfactant metabolism dysfunction, pulmonary, 1	1	1	SFTPB (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Obstructive airway disease	susceptibility to respiratory infections associated with CD8alpha chain mutation	1	1	CD8A (2)	0.00990	1.00000	6.494e-3	7.756e-3	133
Adenoid cystic carcinoma	Intellectual disability with craniofacial dysmorphism and macrocephaly	1	1	H1-4 (2)	0.00990	1.00000	6.494e-3	7.756e-3	
interstitial lung disease 1	Obstructive airway disease	1	1	SFTPA1 (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	kabuki syndrome 2	1	1	KDM6A (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Laryngo-onycho-cutaneous syndrome	Seasonal allergic rhinitis	1	1	LAMA3 (6)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	megalencephalic leukoencephalopathy with subcortical cysts 1	1	1	MLC1 (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	floating-harbor syndrome	1	1	SRCAP (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	Zhu-tokita-takenouchi-kim syndrome	1	1	SON (6)	0.00990	1.00000	6.494e-3	7.756e-3	
Adenoid cystic carcinoma	zttk syndrome	1	1	SON (2)	0.00990	1.00000	6.494e-3	7.756e-3	
IL21-related infantile inflammatory bowel disease	Seasonal allergic rhinitis	1	1	IL21 (2)	0.00990	1.00000	6.494e-3	7.756e-3	
immunodeficiency 25	Seasonal allergic rhinitis	1	1	CD247 (2)	0.00990	1.00000	6.494e-3	7.756e-3	
Intellectual developmental disorder seizures cerebellar	Seasonal allergic rhinitis	1	1	RORA (4)	0.00990	1.00000	6.494e-3	7.756e-3	
Lung disease	severe combined immunodeficiency due to DNA-PKcs deficiency	1	1	PRKDC (3)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	Spastic ataxia of charlevoix-saguenay	1	1	SACS (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Lung disease	surfactant metabolism dysfunction, pulmonary, 1	1	1	SFTPB (3)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	T-B+ severe combined immunodeficiency due to JAK3 deficiency	1	1	JAK3 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Lung disease	primary ciliary dyskinesia 29	1	1	CCNO (3)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	renpenning syndrome	1	1	PQBP1 (3)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	ritscher-schinzel syndrome 1	1	1	WASHC5 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	RNASEH2B-related type 1 interferonopathy	1	1	RNASEH2B (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary sensory and autonomic neuropathy with spastic paraplegia	Hereditary spastic paraplegia	1	1	CCT5 (3)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	hereditary spastic paraplegia 11	1	1	SPG11 (2)	0.00980	1.00000	6.559e-3	7.819e-3	242
Hereditary spastic paraplegia	hereditary spastic paraplegia 18	1	1	ERLIN2 (2)	0.00980	1.00000	6.559e-3	7.819e-3	242
Hereditary spastic paraplegia	hereditary spastic paraplegia 35	1	1	FA2H (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	hereditary spastic paraplegia 62	1	1	ERLIN1 (2)	0.00980	1.00000	6.559e-3	7.819e-3	242
Hereditary spastic paraplegia	hereditary spastic paraplegia 8	1	1	WASHC5 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
hermansky-pudlak syndrome 2	Lung disease	1	1	AP3B1 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Lung disease	lung disease, immunodeficiency, and chromosome breakage syndrome;	1	1	NSMCE3 (5)	0.00980	1.00000	6.559e-3	7.819e-3	133
Cardioembolic stroke	Tritanopia	1	1	OPN1SW (4)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	Troyer syndrome	1	1	SPART (4)	0.00980	1.00000	6.559e-3	7.819e-3	
Cardioembolic stroke	wiskott-aldrich syndrome 2	1	1	WIPF1 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
fanconi anemia complementation group i	Hereditary spastic paraplegia	1	1	FANCI (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Cardioembolic stroke	Neurodevelopmental disorder with dilated cardiomyopathy	1	0	CAMK2D (1)	0.00980	1.00000	6.559e-3	7.819e-3	
Cardioembolic stroke	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	1	1	POLR2A (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	neuropathy, hereditary sensory, type 1D	1	1	ATL1 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	Paraparesis	1	1	TECPR2 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Hereditary spastic paraplegia	Pelizaeus-Merzbacher spectrum disorder	1	1	PLP1 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect	Hereditary spastic paraplegia	1	0	SACS (1)	0.00980	1.00000	6.559e-3	7.819e-3	
Autoinflammation and autoimmunity, systemic, with immune dysregulation 1	Lung disease	1	1	COPA (2)	0.00980	1.00000	6.559e-3	7.819e-3	
CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy	Cardioembolic stroke	1	1	CAMK2D (2)	0.00980	1.00000	6.559e-3	7.819e-3	
combined pituitary hormone deficiencies, genetic form	Lung disease	1	1	FOXA2 (3)	0.00980	1.00000	6.559e-3	7.819e-3	
Cardioembolic stroke	cardiomyopathy, dilated, 2d	1	1	RPL3L (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Cardioembolic stroke	Chromosome 2p16.1-p15 deletion syndrome	1	1	USP34 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Allan-herndon-dudley syndrome	Hereditary spastic paraplegia	1	1	SLC16A2 (3)	0.00980	1.00000	6.559e-3	7.819e-3	242
ALS2-related motor neuron disease	Hereditary spastic paraplegia	1	1	ALS2 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Congenital hypopituitarism	Lung disease	1	1	FOXA2 (2)	0.00980	1.00000	6.559e-3	7.819e-3	
Parenchymal hematoma	Prion disease	1	0	SEMA3A (1)	0.04348	0.16667	6.607e-3	7.875e-3	
Marinesco-sjogren syndrome	Strabismus	1	1	SIL1 (6)	0.02703	0.33333	6.610e-3	7.878e-3	
15q13.3 microdeletion syndrome	Memory disorders	1	1	CHRNA7 (5)	0.01887	0.50000	6.613e-3	7.882e-3	
dilated cardiomyopathy 1CC	Long qt syndrome	1	1	NEXN (2)	0.00971	1.00000	6.624e-3	7.891e-3	3
dilated cardiomyopathy 1W	Long qt syndrome	1	1	VCL (2)	0.00971	1.00000	6.624e-3	7.891e-3	
Cohen syndrome	Long qt syndrome	1	1	VPS13B (7)	0.00971	1.00000	6.624e-3	7.891e-3	
Charcot-Marie-Tooth disease, demyelinating, type 1J	Long qt syndrome	1	1	ITPR3 (2)	0.00971	1.00000	6.624e-3	7.891e-3	
Long qt syndrome	oculopharyngodistal myopathy 1	1	1	LRP12 (2)	0.00971	1.00000	6.624e-3	7.891e-3	
immunodeficiency 97 with autoinflammation	Long qt syndrome	1	1	PIK3CG (2)	0.00971	1.00000	6.624e-3	7.891e-3	
Intellectual developmental disorder seizures dysmorphic gait	Long qt syndrome	1	1	WDR26 (2)	0.00971	1.00000	6.624e-3	7.891e-3	
familial isolated arrhythmogenic right ventricular dysplasia	Long qt syndrome	1	1	DSC2 (2)	0.00971	1.00000	6.624e-3	7.891e-3	3
leukodystrophy, hypomyelinating, 14	Long qt syndrome	1	1	UFM1 (2)	0.00971	1.00000	6.624e-3	7.891e-3	
Female infertility	Isolated follicle-stimulating hormone deficiency	1	1	FSHB (2)	0.00962	1.00000	6.689e-3	7.964e-3	
Female infertility	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	1	1	CDC42 (2)	0.00962	1.00000	6.689e-3	7.964e-3	
Female infertility	NR2F2 related multiple congenital anomalies/dysmorphic syndrome	1	1	NR2F2 (2)	0.00962	1.00000	6.689e-3	7.964e-3	
Female infertility	hand-foot-genital syndrome	1	1	HOXA13 (3)	0.00962	1.00000	6.689e-3	7.964e-3	
Female infertility	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	1	1	HOXA11 (3)	0.00962	1.00000	6.689e-3	7.964e-3	
Female infertility	immunodeficiency-centromeric instability-facial anomalies syndrome 1	1	1	DNMT3B (2)	0.00962	1.00000	6.689e-3	7.964e-3	
Female infertility	Uterine bilocularis	1	1	HOXA13 (2)	0.00962	1.00000	6.689e-3	7.964e-3	
Anovulation	Female infertility	1	1	NR5A2 (2)	0.00962	1.00000	6.689e-3	7.964e-3	
autosomal dominant Robinow syndrome	Female infertility	1	1	WNT5A (3)	0.00962	1.00000	6.689e-3	7.964e-3	
combined immunodeficiency due to LRBA deficiency	Female infertility	1	1	LRBA (2)	0.00962	1.00000	6.689e-3	7.964e-3	
Congenital hypogonadotropic hypogonadism	Female infertility	1	1	EMX2 (2)	0.00962	1.00000	6.689e-3	7.964e-3	
Cryptospermia	Hydrocephalus	1	0	TRIM71 (1)	0.03333	0.25000	6.738e-3	8.021e-3	298
Cortisone reductase deficiency	Hyperglycemia	1	1	HSD11B1 (5)	0.01852	0.50000	6.743e-3	8.024e-3	
Aortic valve stenosis	Retinopathy	1	0	ANKRD7 (1)	0.01852	0.50000	6.743e-3	8.024e-3	
Benign recurrent intrahepatic cholestasis	Conduct disorder	1	1	ATP8B1 (3)	0.01852	0.50000	6.743e-3	8.024e-3	
Congenital cataract hearing loss developmental delay syndrome	Liver failure	1	1	GFER (4)	0.01852	0.50000	6.743e-3	8.024e-3	
Arrhythmogenic right ventricular cardiomyopathy	Genetic recurrent myoglobinuria	1	1	OBSCN (2)	0.01852	0.50000	6.743e-3	8.024e-3	
Arrhythmogenic right ventricular cardiomyopathy	Hemolytic disease of fetus and newborn	1	0	RSRP1 (1)	0.01852	0.50000	6.743e-3	8.024e-3	
Infantile liver failure	Liver failure	1	1	TRMU (4)	0.01852	0.50000	6.743e-3	8.024e-3	
Arrhythmogenic right ventricular cardiomyopathy	Rh isoimmunization	1	0	RSRP1 (1)	0.01852	0.50000	6.743e-3	8.024e-3	
SAMD9L-related spectrum and myeloid neoplasm risk	Spinocerebellar ataxia	1	1	SAMD9L (6)	0.00952	1.00000	6.754e-3	8.028e-3	
Lactic acidosis	Spinocerebellar ataxia	1	1	PMPCA (4)	0.00952	1.00000	6.754e-3	8.028e-3	
Spinocerebellar ataxia	spinocerebellar ataxia type 13	1	1	KCNC3 (6)	0.00952	1.00000	6.754e-3	8.028e-3	92
Spinocerebellar ataxia	spinocerebellar ataxia type 42	1	1	CACNA1G (6)	0.00952	1.00000	6.754e-3	8.028e-3	92
Spinocerebellar ataxia	spinocerebellar ataxia type 5	1	1	SPTBN2 (7)	0.00952	1.00000	6.754e-3	8.028e-3	
Spinocerebellar ataxia	spinocerebellar ataxia, autosomal recessive 23	1	1	TDP2 (6)	0.00952	1.00000	6.754e-3	8.028e-3	92
Spinocerebellar ataxia	spinocerebellar ataxia, autosomal recessive 27	1	1	GDAP2 (5)	0.00952	1.00000	6.754e-3	8.028e-3	92
Spinocerebellar ataxia	spinocerebellar ataxia, autosomal recessive 28	1	1	THG1L (5)	0.00952	1.00000	6.754e-3	8.028e-3	92
Neutropenia, nonimmune chronic idiopathic, adult	Spinocerebellar ataxia	1	1	GFI1 (3)	0.00952	1.00000	6.754e-3	8.028e-3	
granulocytopenia with immunoglobulin abnormality	Spinocerebellar ataxia	1	1	HYOU1 (3)	0.00952	1.00000	6.754e-3	8.028e-3	
Cerebelloparenchymal disorder	Spinocerebellar ataxia	1	1	PMPCA (5)	0.00952	1.00000	6.754e-3	8.028e-3	
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Spinocerebellar ataxia	1	1	TPP1 (6)	0.00952	1.00000	6.754e-3	8.028e-3	
Chondromyxoid fibroma	Spinocerebellar ataxia	1	1	GRM1 (6)	0.00952	1.00000	6.754e-3	8.028e-3	
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	Spinocerebellar ataxia	1	1	ASNS (2)	0.00952	1.00000	6.754e-3	8.028e-3	
Ataxia with oculomotor apraxia and hypoalbuminemia	Spinocerebellar ataxia	1	1	APTX (2)	0.00952	1.00000	6.754e-3	8.028e-3	
Ataxia-pancytopenia syndrome	Spinocerebellar ataxia	1	1	SAMD9L (5)	0.00952	1.00000	6.754e-3	8.028e-3	
autosomal dominant cerebellar ataxia	Spinocerebellar ataxia	1	1	NPTX1 (4)	0.00952	1.00000	6.754e-3	8.028e-3	
autosomal recessive cerebellar ataxia	Spinocerebellar ataxia	1	1	CWF19L1 (6)	0.00952	1.00000	6.754e-3	8.028e-3	92
autosomal recessive spinocerebellar ataxia 10	Spinocerebellar ataxia	1	1	ANO10 (6)	0.00952	1.00000	6.754e-3	8.028e-3	
autosomal recessive spinocerebellar ataxia 14	Spinocerebellar ataxia	1	1	SPTBN2 (7)	0.00952	1.00000	6.754e-3	8.028e-3	
autosomal recessive spinocerebellar ataxia 20	Spinocerebellar ataxia	1	1	SNX14 (6)	0.00952	1.00000	6.754e-3	8.028e-3	
Kleine-levin syndrome	Mobius syndrome	1	0	PLXND1 (1)	0.04545	0.14286	6.800e-3	8.083e-3	
Growth disorder	Smith-magenis syndrome	1	1	RAI1 (7)	0.02632	0.33333	6.804e-3	8.085e-3	
Benign prostatic hyperplasia	Throat disease	1	0	GATA5 (1)	0.02632	0.33333	6.804e-3	8.085e-3	
Circadian rhythm sleep disorder	Diabetic ketoacidosis	1	0	CNTN5 (1)	0.02632	0.33333	6.804e-3	8.085e-3	
C1q deficiency	Ovarian cysts	1	1	C1QB (6)	0.02632	0.33333	6.804e-3	8.085e-3	
Benign essential blepharospasm	Bipolar depression	1	1	DRD5 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Bipolar depression	Blepharospasm	1	1	DRD5 (3)	0.00943	1.00000	6.819e-3	8.097e-3	
aromatic l-amino acid decarboxylase deficiency	Bipolar depression	1	1	DDC (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Aromatic l-amino-acid decarboxylase deficiency	Bipolar depression	1	1	DDC (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia	Behcet disease	1	1	PSTPIP1 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Adenosine deaminase 2 deficiency	Behcet disease	1	1	ADA2 (4)	0.00943	1.00000	6.819e-3	8.097e-3	
Bipolar depression	combined immunodeficiency due to STK4 deficiency	1	1	STK4 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Bipolar depression	schuurs-hoeijmakers syndrome	1	1	PACS1 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Behcet disease	seckel syndrome 10	1	1	NSMCE2 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Bipolar depression	X-linked epilepsy with or without intellectual disability and dysmorphic features	1	1	GABRA3 (4)	0.00943	1.00000	6.819e-3	8.097e-3	
Bipolar depression	hereditary sensory and autonomic neuropathy type 4	1	1	NTRK1 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Bipolar depression	Neurogenic bladder	1	1	CHRM2 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Behcet disease	obsolete deficiency of adenosine deaminase 2	1	1	ADA2 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Behcet disease	Papa syndrome	1	1	PSTPIP1 (2)	0.00943	1.00000	6.819e-3	8.097e-3	
Congenital anomalies of the kidney and urinary tract	Ochoa syndrome	1	0	HPSE2 (1)	0.01818	0.50000	6.872e-3	8.158e-3	
Congenital anomalies of the kidney and urinary tract	Urofacial syndrome	1	1	HPSE2 (6)	0.01818	0.50000	6.872e-3	8.158e-3	
Giant axonal neuropathy	Peripheral nervous system disease	1	1	GAN (7)	0.01818	0.50000	6.872e-3	8.158e-3	
Candle syndrome	Hyperthyroidism	1	1	PSMB8 (2)	0.01818	0.50000	6.872e-3	8.158e-3	
Angiocentric glioma	Myeloproliferative disorder	1	1	MYB (2)	0.01818	0.50000	6.872e-3	8.158e-3	
Cystic leukoencephalopathy	Hyperthyroidism	1	1	RNASET2 (4)	0.01818	0.50000	6.872e-3	8.158e-3	
Demyelinating leukodystrophy	Microcephaly	1	1	LMNB1 (4)	0.00935	1.00000	6.884e-3	8.165e-3	
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	Microcephaly	1	1	QARS1 (5)	0.00935	1.00000	6.884e-3	8.165e-3	
Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome	Microcephaly	1	1	QARS1 (6)	0.00935	1.00000	6.884e-3	8.165e-3	
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum	Microcephaly	1	1	DONSON (6)	0.00935	1.00000	6.884e-3	8.165e-3	
Amish lethal microcephaly	Microcephaly	1	1	SLC25A19 (6)	0.00935	1.00000	6.884e-3	8.165e-3	
Genetic syndromic pierre robin syndrome	Microcephaly	1	0	EFTUD2 (1)	0.00935	1.00000	6.884e-3	8.165e-3	
goldberg-shprintzen syndrome	Microcephaly	1	1	KIFBP (3)	0.00935	1.00000	6.884e-3	8.165e-3	
Microcephaly	neurodevelopmental disorder with microcephaly and dysmorphic facies	1	1	SPOP (2)	0.00935	1.00000	6.884e-3	8.165e-3	
Microcephaly	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	1	1	SPOP (2)	0.00935	1.00000	6.884e-3	8.165e-3	
mandibulofacial dysostosis-microcephaly syndrome	Microcephaly	1	1	EFTUD2 (2)	0.00935	1.00000	6.884e-3	8.165e-3	
microcephalic primordial dwarfism due to RTTN deficiency	Microcephaly	1	1	RTTN (4)	0.00935	1.00000	6.884e-3	8.165e-3	
Microcephaly	microcephaly 26, primary, autosomal dominant	1	1	LMNB1 (5)	0.00935	1.00000	6.884e-3	8.165e-3	
Microcephaly	microcephaly and chorioretinopathy 1	1	1	TUBGCP6 (5)	0.00935	1.00000	6.884e-3	8.165e-3	
Microcephaly	microcephaly with or without short stature	1	1	CEP152 (5)	0.00935	1.00000	6.884e-3	8.165e-3	137
Microcephaly	mosaic variegated aneuploidy syndrome 1	1	1	BUB1B (3)	0.00935	1.00000	6.884e-3	8.165e-3	
Leigh syndrome	mitochondrial short-chain enoyl-coa hydratase 1 deficiency	1	1	ECHS1 (4)	0.00926	1.00000	6.949e-3	8.230e-3	62
Leigh syndrome	optic atrophy 13 with retinal and foveal abnormalities	1	1	SSBP1 (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Hepatoencephalopathy due to combined oxidative phosphorylation defect	Leigh syndrome	1	1	GFM1 (5)	0.00926	1.00000	6.949e-3	8.230e-3	
hereditary mixed polyposis syndrome	Pulmonary fibrosis	1	1	GREM1 (3)	0.00926	1.00000	6.949e-3	8.230e-3	
hermansky-pudlak syndrome 2	Pulmonary fibrosis	1	1	AP3B1 (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Pulmonary fibrosis	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	1	1	NAF1 (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Leigh syndrome	pyruvate dehydrogenase E3 deficiency	1	1	DLD (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Male infertility motility disorder	Male infertility single gene azoospermia	1	1	CCDC146 (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Male infertility single gene azoospermia	spermatogenic failure 56	1	1	DNAH10 (3)	0.00926	1.00000	6.949e-3	8.230e-3	11
Male infertility single gene azoospermia	SYCE1-related gametogenic failure	1	1	SYCE1 (4)	0.00926	1.00000	6.949e-3	8.230e-3	11
Leigh syndrome	Thiamine-responsive encephalopathy	1	1	SLC19A3 (4)	0.00926	1.00000	6.949e-3	8.230e-3	
Fanconi anemia complementation group U	Male infertility single gene azoospermia	1	1	XRCC2 (4)	0.00926	1.00000	6.949e-3	8.230e-3	
Hurthle cell thyroid cancer	Leigh syndrome	1	1	NDUFA13 (4)	0.00926	1.00000	6.949e-3	8.230e-3	
3-hydroxyisobutyryl-coa hydrolase deficiency	Leigh syndrome	1	1	HIBCH (3)	0.00926	1.00000	6.949e-3	8.230e-3	
ADAR-related type 1 interferonopathy	Leigh syndrome	1	1	ADAR (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Aminoglycoside-induced deafness	Leigh syndrome	1	1	TRMU (3)	0.00926	1.00000	6.949e-3	8.230e-3	
Amish lethal microcephaly	Leigh syndrome	1	1	SLC25A19 (6)	0.00926	1.00000	6.949e-3	8.230e-3	
Codas syndrome	Leigh syndrome	1	1	LONP1 (7)	0.00926	1.00000	6.949e-3	8.230e-3	62
Cataract-growth hormone deficiency-skeletal dysplasia syndrome	Leigh syndrome	1	1	IARS2 (6)	0.00926	1.00000	6.949e-3	8.230e-3	
Charcot-Marie-Tooth disease axonal type 2Z	Leigh syndrome	1	1	MORC2 (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Childhood-onset dystonia	Leigh syndrome	1	1	MECR (2)	0.00926	1.00000	6.949e-3	8.230e-3	
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	Leigh syndrome	1	1	MECR (5)	0.00926	1.00000	6.949e-3	8.230e-3	
Biotin-responsive basal ganglia disease	Leigh syndrome	1	1	SLC19A3 (4)	0.00926	1.00000	6.949e-3	8.230e-3	
Biotin-thiamine-responsive basal ganglia disease	Leigh syndrome	1	1	SLC19A3 (4)	0.00926	1.00000	6.949e-3	8.230e-3	
Biotinidase deficiency	Leigh syndrome	1	1	BTD (8)	0.00926	1.00000	6.949e-3	8.230e-3	
Bjornstad syndrome	Leigh syndrome	1	1	BCS1L (6)	0.00926	1.00000	6.949e-3	8.230e-3	
Amnesia	Renal pelvis neoplasms	1	1	GNAI1 (3)	0.04167	0.16667	6.995e-3	8.284e-3	
Autoimmune nervous system disorder	Hepatolenticular degeneration	1	1	ANXA5 (2)	0.03226	0.25000	6.996e-3	8.285e-3	
1p36.33 duplication syndrome	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	1	1	ATAD3A (2)	0.02564	0.33333	6.998e-3	8.286e-3	
Brain infarction	Cerebral artery occlusion	1	0	ADGRE3 (1)	0.02564	0.33333	6.998e-3	8.286e-3	
Proliferative diabetic retinopathy	Pseudo-torch syndrome	1	1	STAT2 (5)	0.02564	0.33333	6.998e-3	8.286e-3	
Lipoyltransferase deficiency	Ventricular fibrillation	1	1	LIPT2 (2)	0.02564	0.33333	6.998e-3	8.286e-3	
Giant axonal neuropathy	Non-neoplastic peripheral nervous system disease	1	1	GAN (7)	0.01786	0.50000	7.002e-3	8.289e-3	
Autonomic nervous system disease	Psoriasis vulgaris	1	0	ELMO1 (1)	0.01786	0.50000	7.002e-3	8.289e-3	14
Goldenhar syndrome	Periodic limb movement disorder	1	1	MYT1 (2)	0.04762	0.10000	7.123e-3	8.432e-3	
Synovitis, acne, pustulosis, hyperostosis, and osteitis	Urogenital neoplasms	1	1	WNT7A (4)	0.03704	0.20000	7.124e-3	8.433e-3	
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	Dysarthria	1	0	SURF1 (1)	0.03704	0.20000	7.124e-3	8.433e-3	
Hemolytic anemia	Hemolytic disease of fetus and newborn	1	1	RHD (3)	0.01754	0.50000	7.131e-3	8.440e-3	
Hemolytic anemia	Pyruvate kinase deficiency	1	1	PKLR (2)	0.01754	0.50000	7.131e-3	8.440e-3	
Hemolytic anemia	Rh isoimmunization	1	1	RHD (2)	0.01754	0.50000	7.131e-3	8.440e-3	
Autoinflammatory syndrome	Griscelli syndrome	1	1	RAB27A (7)	0.02500	0.33333	7.192e-3	8.511e-3	
gray platelet syndrome	Keratoconus	1	1	NBEAL2 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
hearing impairment and infertile male syndrome	Male infertility	1	1	CDC14A (3)	0.00893	1.00000	7.209e-3	8.517e-3	
Male infertility	primary ciliary dyskinesia 1	1	1	DNAI1 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Male infertility	primary ciliary dyskinesia 23	1	1	ODAD2 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Dyslexia	primary ciliary dyskinesia 25	1	1	DNAAF4 (4)	0.00893	1.00000	7.209e-3	8.517e-3	
Hodgkin lymphoma	severe combined immunodeficiency due to CORO1A deficiency	1	1	CORO1A (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Male infertility	spermatogenic failure 5	1	1	AURKC (3)	0.00893	1.00000	7.209e-3	8.517e-3	11
Keratoconus	temtamy preaxial brachydactyly syndrome	1	1	CHSY1 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Dyslexia	Tongue disorder	1	0	ESRRG (1)	0.00893	1.00000	7.209e-3	8.517e-3	
Keratoconus	Malonyl-coa decarboxylase deficiency	1	1	MLYCD (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Hodgkin lymphoma	marshall-smith syndrome	1	1	NFIX (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Male infertility	MCM9-related gametogenic failure	1	1	MCM9 (3)	0.00893	1.00000	7.209e-3	8.517e-3	
Dyslexia	microcephaly 26, primary, autosomal dominant	1	1	LMNB1 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Dyslexia	intellectual developmental disorder with autistic features and language delay, with or without seizures	1	1	TANC2 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	Keratoconus	1	1	PIDD1 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Isolated follicle-stimulating hormone deficiency	Male infertility	1	1	FSHB (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Hodgkin lymphoma	Malan overgrowth syndrome	1	1	NFIX (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Hodgkin lymphoma	Malan syndrome	1	1	NFIX (6)	0.00893	1.00000	7.209e-3	8.517e-3	
Keratoconus	neutral lipid storage myopathy	1	1	PNPLA2 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Hodgkin lymphoma	Tritanopia	1	1	OPN1SW (4)	0.00893	1.00000	7.209e-3	8.517e-3	
autosomal agammaglobulinemia	Hodgkin lymphoma	1	1	TCF3 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
COG5-congenital disorder of glycosylation	Dyslexia	1	1	COG5 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Congenital alpha-2-antiplasmin deficiency	Hodgkin lymphoma	1	1	SERPINF2 (3)	0.00893	1.00000	7.209e-3	8.517e-3	
Congenital cataract severe neonatal hepatopathy developmental delay syndrome	Dyslexia	1	1	CYP51A1 (3)	0.00893	1.00000	7.209e-3	8.517e-3	
19p13.3 microduplication syndrome	Hodgkin lymphoma	1	1	NFIX (3)	0.00893	1.00000	7.209e-3	8.517e-3	
Alpha-2-plasmin inhibitor deficiency	Hodgkin lymphoma	1	1	SERPINF2 (3)	0.00893	1.00000	7.209e-3	8.517e-3	
Congenital plasmin inhibitor deficiency	Hodgkin lymphoma	1	1	SERPINF2 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Corneal degeneration	Keratoconus	1	0	RDH8 (1)	0.00893	1.00000	7.209e-3	8.517e-3	
Corneal injury	Keratoconus	1	1	ALDH3A1 (3)	0.00893	1.00000	7.209e-3	8.517e-3	
Demyelinating leukodystrophy	Dyslexia	1	1	LMNB1 (2)	0.00893	1.00000	7.209e-3	8.517e-3	
Dentici novelli neurodevelopmental syndrome	Hodgkin lymphoma	1	1	ZNF526 (4)	0.00893	1.00000	7.209e-3	8.517e-3	89
Chondromalacia	Vascular brain injury	1	0	ARHGAP15 (1)	0.04545	0.12500	7.252e-3	8.567e-3	
Chromosomal instability	Papillary thyroid cancer	1	0	PPP2R5C (1)	0.04545	0.12500	7.252e-3	8.567e-3	
Hereditary chronic pancreatitis	Spermatogenic failure, y-linked	1	1	CFTR (2)	0.04545	0.12500	7.252e-3	8.567e-3	
Bell's palsy	Intellectual developmental disorder seizures speech	1	1	NTNG2 (2)	0.01724	0.50000	7.261e-3	8.576e-3	
Autoimmune interstitial lung disease-arthritis syndrome	Bell's palsy	1	1	NLRP12 (2)	0.01724	0.50000	7.261e-3	8.576e-3	
Aortic valve stenosis	Clonal hematopoiesis	1	0	ANKRD7 (1)	0.01724	0.50000	7.261e-3	8.576e-3	
Amish nemaline myopathy	Myopathy	1	1	TNNT1 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
carnitine palmitoyltransferase II deficiency	Myopathy	1	1	CPT2 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Myopathy	1	1	MYH2 (3)	0.00885	1.00000	7.274e-3	8.579e-3	
DPM3-congenital disorder of glycosylation	Myopathy	1	1	DPM3 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
CAPN5-related vitreoretinopathy	Eosinophilia	1	1	CAPN5 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Autoinflammation with episodic fever and immune dysregulation	Eosinophilia	1	1	SHARPIN (5)	0.00885	1.00000	7.274e-3	8.579e-3	
autosomal dominant slowed nerve conduction velocity	Myopathy	1	1	ARHGEF10 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Axonal neuropathy with neuromyotonia	Myopathy	1	1	HINT1 (3)	0.00885	1.00000	7.274e-3	8.579e-3	131
Congenital finger flexion contractures	Myopathy	1	0	TNNI2 (1)	0.00885	1.00000	7.274e-3	8.579e-3	
congenital myasthenic syndrome 12	Myopathy	1	1	GFPT1 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Congenital sialidosis	Eosinophilia	1	1	NEU1 (3)	0.00885	1.00000	7.274e-3	8.579e-3	
Cranio-cervical dystonia	Eosinophilia	1	1	ANO3 (3)	0.00885	1.00000	7.274e-3	8.579e-3	
Eosinophilia	jaberi-elahi syndrome	1	1	GTPBP2 (2)	0.00885	1.00000	7.274e-3	8.579e-3	103
Eosinophilia	xeroderma pigmentosum variant type	1	1	POLH (2)	0.00885	1.00000	7.274e-3	8.579e-3	
MEGF10-related myopathy	Myopathy	1	1	MEGF10 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Myopathy	myopathy, proximal, and ophthalmoplegia	1	1	MYH2 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Myopathy	nemaline myopathy 5	1	1	TNNT1 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Eosinophilia	Neovascular inflammatory vitreoretinopathy	1	1	CAPN5 (4)	0.00885	1.00000	7.274e-3	8.579e-3	
glycogen storage disease V	Myopathy	1	1	PYGM (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Eosinophilia	hemophagocytic lymphohistiocytosis due to RhoG deficiency	1	1	RHOG (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Eosinophilia	holocarboxylase synthetase deficiency	1	1	HLCS (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Eosinophilia	intellectual developmental disorder 59	1	1	CAMK2G (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Eosinophilia	Sialidosis	1	1	NEU1 (6)	0.00885	1.00000	7.274e-3	8.579e-3	
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	Myopathy	1	1	MEGF10 (2)	0.00885	1.00000	7.274e-3	8.579e-3	
Eosinophilia	fontaine progeroid syndrome	1	1	SLC25A24 (2)	0.00885	1.00000	7.274e-3	8.579e-3	103
Dry eye syndrome	Focal facial dermal dysplasia	1	1	TWIST2 (6)	0.01695	0.50000	7.390e-3	8.702e-3	
Neutropenia	Specific granule deficiency	1	1	SMARCD2 (5)	0.01695	0.50000	7.390e-3	8.702e-3	
Pancreatic trypsinogen deficiency	Pancreatitis	1	1	PRSS1 (4)	0.01695	0.50000	7.390e-3	8.702e-3	
Cerebellar ataxia, neuropathy, and vestibular areflexia	Osteosarcoma	1	1	RFC1 (4)	0.01695	0.50000	7.390e-3	8.702e-3	
Bloom syndrome	Osteosarcoma	1	1	BLM (8)	0.01695	0.50000	7.390e-3	8.702e-3	
blepharocheilodontic syndrome 2	Tetralogy of fallot	1	1	CTNND1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Blepharophimosis-ptosis-epicanthus inversus syndrome	Premature ovarian failure	1	1	FOXL2 (6)	0.00870	1.00000	7.404e-3	8.702e-3	
Congenital insufficiency of mitral valve	Tetralogy of fallot	1	1	LMCD1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Congenitally uncorrected transposition of the great arteries	Tetralogy of fallot	1	1	CFC1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Tetralogy of fallot	1	1	ADNP (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Anovulation	Premature ovarian failure	1	1	NR5A2 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Cayman type cerebellar ataxia	Cerebellar ataxia	1	1	ATCAY (6)	0.00870	1.00000	7.404e-3	8.702e-3	92
Cerebellar ataxia	Cervical dystonia	1	1	CIZ1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Chromosome 15q deletion syndrome	Tetralogy of fallot	1	1	MCTP2 (3)	0.00870	1.00000	7.404e-3	8.702e-3	41
Chromosome 16p11.2 microdeletion syndrome	Premature ovarian failure	1	1	SH2B1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Chylothorax	Tetralogy of fallot	1	1	PKD1L1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
ciliary dyskinesia, primary, 43	Tetralogy of fallot	1	1	FOXJ1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
ciliary dyskinesia, primary, 54	Spermatogenic failure	1	1	CFAP54 (3)	0.00870	1.00000	7.404e-3	8.702e-3	
colorectal cancer, hereditary nonpolyposis, type 7	Premature ovarian failure	1	1	MLH3 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Congenital alpha-fetoprotein deficiency	Premature ovarian failure	1	1	AFP (2)	0.00870	1.00000	7.404e-3	8.702e-3	11
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	Tetralogy of fallot	1	1	PPP1R13L (2)	0.00870	1.00000	7.404e-3	8.702e-3	
autosomal dominant cerebellar ataxia	Cerebellar ataxia	1	1	NPTX1 (3)	0.00870	1.00000	7.404e-3	8.702e-3	
autosomal recessive cerebellar ataxia	Cerebellar ataxia	1	1	CWF19L1 (4)	0.00870	1.00000	7.404e-3	8.702e-3	92
autosomal recessive spinocerebellar ataxia 10	Cerebellar ataxia	1	1	ANO10 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
autosomal recessive spinocerebellar ataxia 14	Cerebellar ataxia	1	1	SPTBN2 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
autosomal recessive spinocerebellar ataxia 20	Cerebellar ataxia	1	1	SNX14 (3)	0.00870	1.00000	7.404e-3	8.702e-3	
Cerebellar ataxia	neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	1	1	CAPRIN1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Nonobstructive azoospermia	Spermatogenic failure	1	1	SLC26A8 (5)	0.00870	1.00000	7.404e-3	8.702e-3	
NR2F2 related multiple congenital anomalies/dysmorphic syndrome	Tetralogy of fallot	1	1	NR2F2 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Ovarian teratoma	Premature ovarian failure	1	1	BMP15 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Genetic infertility	Premature ovarian failure	1	1	SPATA22 (3)	0.00870	1.00000	7.404e-3	8.702e-3	
HAND2 related congenital heart defect	Tetralogy of fallot	1	1	HAND2 (3)	0.00870	1.00000	7.404e-3	8.702e-3	
Helsmoortel-van der aa syndrome	Tetralogy of fallot	1	1	ADNP (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Cerebellar ataxia	Troyer syndrome	1	1	SPART (4)	0.00870	1.00000	7.404e-3	8.702e-3	
Tetralogy of fallot	Truncus arteriosus	1	1	TMEM260 (2)	0.00870	1.00000	7.404e-3	8.702e-3	41
Premature ovarian failure	Udp-glucose-hexose-1-phosphate uridylyltransferase	1	1	GALT (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Premature ovarian failure	Weiss-kruszka syndrome	1	1	ZNF462 (6)	0.00870	1.00000	7.404e-3	8.702e-3	
Spermatogenic failure	Xy gonadal dysgenesis syndrome	1	1	PPP2R3C (4)	0.00870	1.00000	7.404e-3	8.702e-3	
lessel-kreienkamp syndrome	Premature ovarian failure	1	1	AGO2 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
male infertility due to globozoospermia	Spermatogenic failure	1	1	DPY19L2 (6)	0.00870	1.00000	7.404e-3	8.702e-3	
Male infertility motility disorder	Spermatogenic failure	1	1	CCDC146 (3)	0.00870	1.00000	7.404e-3	8.702e-3	
PLD1-related congenital heart disease	Tetralogy of fallot	1	1	PLD1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Cerebellar ataxia	POLR1C-related disorder	1	1	POLR1C (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Cerebellar ataxia	POLR3B-related disorder	1	1	POLR3B (2)	0.00870	1.00000	7.404e-3	8.702e-3	
primary ciliary dyskinesia 20	Tetralogy of fallot	1	1	ODAD1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Premature ovarian failure	primordial dwarfism-immunodeficiency-lipodystrophy syndrome	1	1	PRIM1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Premature ovarian failure	Prognathism	1	1	ADAMTS1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Premature ovarian failure	RAD51C-related cancer predisposition	1	1	RAD51C (2)	0.00870	1.00000	7.404e-3	8.702e-3	
MCM9-related gametogenic failure	Premature ovarian failure	1	1	MCM9 (3)	0.00870	1.00000	7.404e-3	8.702e-3	
Cerebellar ataxia	megalencephalic leukoencephalopathy with subcortical cysts 1	1	1	MLC1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Cerebellar ataxia	neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	1	1	CAPRIN1 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Spermatogenic failure	spermatogenic failure 38	1	1	ARMC2 (5)	0.00870	1.00000	7.404e-3	8.702e-3	11
Spermatogenic failure	spermatogenic failure 39	1	1	DNAH17 (4)	0.00870	1.00000	7.404e-3	8.702e-3	11
Spermatogenic failure	spermatogenic failure 46	1	1	DNAH8 (5)	0.00870	1.00000	7.404e-3	8.702e-3	11
Spermatogenic failure	spermatogenic failure 5	1	1	AURKC (3)	0.00870	1.00000	7.404e-3	8.702e-3	11
Cerebellar ataxia	spinocerebellar ataxia type 42	1	1	CACNA1G (2)	0.00870	1.00000	7.404e-3	8.702e-3	92
Cerebellar ataxia	spinocerebellar ataxia type 5	1	1	SPTBN2 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Cerebellar ataxia	spinocerebellar ataxia, autosomal recessive 23	1	1	TDP2 (3)	0.00870	1.00000	7.404e-3	8.702e-3	92
Spermatogenic failure	stankiewicz-isidor syndrome	1	1	PSMD12 (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Premature ovarian failure	SYCE1-related gametogenic failure	1	1	SYCE1 (5)	0.00870	1.00000	7.404e-3	8.702e-3	11
Spermatogenic failure	SYCE1-related gametogenic failure	1	1	SYCE1 (6)	0.00870	1.00000	7.404e-3	8.702e-3	11
Cerebellar ataxia	treacher collins syndrome 3	1	1	POLR1C (2)	0.00870	1.00000	7.404e-3	8.702e-3	
fanconi anemia complementation group o	Premature ovarian failure	1	1	RAD51C (2)	0.00870	1.00000	7.404e-3	8.702e-3	
Fanconi anemia complementation group U	Premature ovarian failure	1	1	XRCC2 (4)	0.00870	1.00000	7.404e-3	8.702e-3	
Fanconi anemia complementation group U	Spermatogenic failure	1	1	XRCC2 (5)	0.00870	1.00000	7.404e-3	8.702e-3	
Hyperprolactinemia	Premature ovarian failure	1	1	PRLR (4)	0.00870	1.00000	7.404e-3	8.702e-3	
Congenital neurologic anomalies	Intellectual developmental disorder dysmorphic brain	1	1	TRAPPC9 (4)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	Intellectual developmental disorder dysmorphic cardiac	1	1	TMEM94 (5)	0.00862	1.00000	7.469e-3	8.757e-3	
Intellectual developmental disorder dysmorphic macrocephaly	Lymphocytic leukemia	1	1	ZBTB7A (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Ovarian epithelial cancer	Riboflavin deficiency	1	1	SLC52A1 (4)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	RNASEH2C-related type 1 interferonopathy	1	1	RNASEH2C (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	neuropathy, hereditary sensory, type 1D	1	1	ATL1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
osteopetrosis, autosomal dominant 3	Ovarian epithelial cancer	1	1	PLEKHM1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Lymphocytic leukemia	Partial corpus callosum agenesis	1	1	KPNA7 (3)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	fucosidosis	1	1	FUCA1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	6
Congenital neurologic anomalies	Guanidinoacetate methyltransferase deficiency	1	1	GAMT (3)	0.00862	1.00000	7.469e-3	8.757e-3	
hepatic veno-occlusive disease-immunodeficiency syndrome	Lymphocytic leukemia	1	1	SP110 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	hereditary spastic paraplegia 18	1	1	ERLIN2 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
hermansky-pudlak syndrome 7	Non-small cell lung carcinoma	1	1	DTNBP1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	intellectual developmental disorder with cardiac defects and dysmorphic facies	1	1	TMEM94 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	1	1	TRAPPC9 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Laryngo-onycho-cutaneous syndrome	Ovarian epithelial cancer	1	1	LAMA3 (6)	0.00862	1.00000	7.469e-3	8.757e-3	
liberfarb syndrome	Lymphocytic leukemia	1	1	PISD (2)	0.00862	1.00000	7.469e-3	8.757e-3	
maternal riboflavin deficiency	Ovarian epithelial cancer	1	1	SLC52A1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
mitochondrial trifunctional protein deficiency	Non-small cell lung carcinoma	1	1	HADHB (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	mucolipidosis type IV	1	1	MCOLN1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Lymphocytic leukemia	mucopolysaccharidosis type 6	1	1	ARSB (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Lymphocytic leukemia	Sebaceous gland neoplasms	1	1	LEF1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Lymphocytic leukemia	severe combined immunodeficiency due to CD70 deficiency	1	1	CD70 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Lymphocytic leukemia	Short stature skeletal dysplasia retinal degeneration intellectual disability hearing loss syndrome	1	1	PISD (3)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital neurologic anomalies	SRD5A3-congenital disorder of glycosylation	1	1	SRD5A3 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Athabaskan brainstem dysgenesis	Congenital neurologic anomalies	1	1	HOXA1 (4)	0.00862	1.00000	7.469e-3	8.757e-3	
autoimmune lymphoproliferative syndrome type 2A	Lymphocytic leukemia	1	1	CASP10 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
autosomal dominant combined immunodeficiency due to ERBIN deficiency	Non-small cell lung carcinoma	1	1	ERBIN (2)	0.00862	1.00000	7.469e-3	8.757e-3	
autosomal recessive osteopetrosis 6	Ovarian epithelial cancer	1	1	PLEKHM1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
BBS12-related ciliopathy	Congenital neurologic anomalies	1	1	BBS12 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital hereditary facial paralysis with variable hearing loss syndrome	Congenital neurologic anomalies	1	1	HOXB1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
CTR9-related neurodevelopmental disorder	Ovarian epithelial cancer	1	1	CTR9 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Beukes hip dysplasia	Congenital neurologic anomalies	1	1	UFSP2 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
blepharocheilodontic syndrome 2	Ovarian epithelial cancer	1	1	CTNND1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Bosley-salih-alorainy syndrome	Congenital neurologic anomalies	1	1	HOXA1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Brainstem atrophy	Congenital neurologic anomalies	1	0	MCOLN1 (1)	0.00862	1.00000	7.469e-3	8.757e-3	
developmental delay with variable intellectual disability and dysmorphic facies	Lymphocytic leukemia	1	1	JARID2 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
diaphyseal medullary stenosis-bone malignancy syndrome	Non-small cell lung carcinoma	1	1	MTAP (2)	0.00862	1.00000	7.469e-3	8.757e-3	
ciliary dyskinesia, primary, 44	Ovarian epithelial cancer	1	1	NEK10 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
ciliary dyskinesia, primary, 47, and lissencephaly	Congenital neurologic anomalies	1	1	TP73 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Cockayne syndrome type 1	Congenital neurologic anomalies	1	1	ERCC8 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
carnitine palmitoyltransferase II deficiency	Congenital neurologic anomalies	1	1	CPT2 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Congenital neurologic anomalies	1	1	TPP1 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Choreoacanthocytosis	Congenital neurologic anomalies	1	1	VPS13A (3)	0.00862	1.00000	7.469e-3	8.757e-3	
Chromosome 1q deletion syndrome	Ovarian epithelial cancer	1	1	ZBTB18 (3)	0.00862	1.00000	7.469e-3	8.757e-3	
Chromosome 1q43-q44 deletion syndrome	Ovarian epithelial cancer	1	1	ZBTB18 (2)	0.00862	1.00000	7.469e-3	8.757e-3	
Congenital myasthenic syndrome	Cystinuria	1	1	PREPL (2)	0.03030	0.25000	7.513e-3	8.808e-3	
Cannabis abuse	developmental delay with variable intellectual impairment and behavioral abnormalities	1	1	TCF20 (2)	0.00855	1.00000	7.533e-3	8.830e-3	
Cannabis abuse	Dorfman-chanarin disease	1	1	ABHD5 (3)	0.00855	1.00000	7.533e-3	8.830e-3	
Cannabis abuse	Cohen-gibson syndrome	1	1	EED (6)	0.00855	1.00000	7.533e-3	8.830e-3	
Cannabis abuse	short chain acyl-coa dehydrogenase deficiency	1	1	ACADS (2)	0.00855	1.00000	7.533e-3	8.830e-3	
Carpenter syndrome	Polydactyly	1	1	MEGF8 (3)	0.02381	0.33333	7.580e-3	8.884e-3	
Brachytelephalangic chondrodysplasia punctata	Connective tissue disease	1	1	ARSL (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Camptodactyly	Pancreatic neoplasms	1	1	TLN2 (3)	0.00847	1.00000	7.598e-3	8.897e-3	
Congenital tufting enteropathy	Pancreatic neoplasms	1	1	EPCAM (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Comp-related skeletal dysplasia	Connective tissue disease	1	1	COMP (3)	0.00847	1.00000	7.598e-3	8.897e-3	
Anovulation	Pancreatic neoplasms	1	1	NR5A2 (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	schneckenbecken dysplasia	1	1	SLC35D1 (2)	0.00847	1.00000	7.598e-3	8.897e-3	44
Connective tissue disease	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	1	1	SLC10A7 (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	1	1	DDR2 (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	TRIP11-related skeletal dysplasia	1	1	TRIP11 (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	Warburg-cinotti syndrome	1	1	DDR2 (5)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	Wolcott-rallison syndrome	1	1	EIF2AK3 (4)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	X-linked chondrodysplasia punctata 1	1	1	ARSL (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	X-linked dominant chondrodysplasia punctata	1	1	EBP (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	neurodevelopmental disorder with microcephaly and dysmorphic facies	1	1	SPOP (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	1	1	SPOP (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	mend syndrome	1	1	EBP (2)	0.00847	1.00000	7.598e-3	8.897e-3	
multiple endocrine neoplasia type 1	Pancreatic neoplasms	1	1	MEN1 (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	Multiple epiphyseal dysplasia with early-onset diabetes mellitus	1	1	EIF2AK3 (2)	0.00847	1.00000	7.598e-3	8.897e-3	
Connective tissue disease	Dyggve-melchior-clausen syndrome	1	1	DYM (5)	0.00847	1.00000	7.598e-3	8.897e-3	
complex neurodevelopmental disorder	Epilepsy due to perinatal stroke	1	1	ST3GAL3 (2)	0.00840	1.00000	7.663e-3	8.956e-3	
Biliary tract cancer	friedreich ataxia	1	1	FXN (2)	0.00840	1.00000	7.663e-3	8.956e-3	72
complex neurodevelopmental disorder	Usmani-riazuddin syndrome	1	1	AP1G1 (5)	0.00840	1.00000	7.663e-3	8.956e-3	6
Nonsyndromic hearing loss	Worster drought syndrome	1	0	TMTC4 (1)	0.00840	1.00000	7.663e-3	8.956e-3	31
Biliary tract cancer	glycosylphosphatidylinositol biosynthesis defect 21	1	1	PIGU (2)	0.00840	1.00000	7.663e-3	8.956e-3	
hearing impairment and infertile male syndrome	Nonsyndromic hearing loss	1	1	CDC14A (4)	0.00840	1.00000	7.663e-3	8.956e-3	
hearing loss, autosomal recessive 119	Nonsyndromic hearing loss	1	1	AFG2B (2)	0.00840	1.00000	7.663e-3	8.956e-3	
hearing loss, autosomal recessive 120	Nonsyndromic hearing loss	1	1	MINAR2 (2)	0.00840	1.00000	7.663e-3	8.956e-3	31
complex neurodevelopmental disorder	pseudohypoaldosteronism type 2E	1	0	CUL3 (1)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	holoprosencephaly 12 with or without pancreatic agenesis	1	0	CNOT1 (1)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder autism speech dysmorphic	1	1	CHD1 (2)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder behavioral dysmorphic	1	1	PHF21A (5)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder dysmorphic	1	1	POU3F3 (2)	0.00840	1.00000	7.663e-3	8.956e-3	6
complex neurodevelopmental disorder	Intellectual developmental disorder dysmorphic hypotonia	1	1	KMT5B (2)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder growth behavioral	1	1	PPP2R5D (2)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder macrocephaly hypotonia behavioral	1	1	PPP2R5D (2)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder seizures epilepsy	1	1	AP2M1 (3)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder seizures language	1	1	SETD1B (4)	0.00840	1.00000	7.663e-3	8.956e-3	
Nonsyndromic hearing loss	Sensorineural deafness with dilated cardiomyopathy	1	1	EYA4 (4)	0.00840	1.00000	7.663e-3	8.956e-3	
Nonsyndromic hearing loss	Sensorineural hearing loss-spastic quadriplegia–intellectual disability	1	1	AFG2B (2)	0.00840	1.00000	7.663e-3	8.956e-3	
Nonsyndromic hearing loss	Stress-induced neurodegenerative ataxia seizure syndrome	1	1	ADPRS (2)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Tolchin-le caignec syndrome	1	1	SOX6 (4)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Intellectual developmental disorder short stature behavioral	1	1	IQSEC1 (5)	0.00840	1.00000	7.663e-3	8.956e-3	
1q44 microdeletion syndrome	complex neurodevelopmental disorder	1	1	HNRNPU (3)	0.00840	1.00000	7.663e-3	8.956e-3	6
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome	complex neurodevelopmental disorder	1	1	MEF2C (3)	0.00840	1.00000	7.663e-3	8.956e-3	
Atypical absence seizure	Nonsyndromic hearing loss	1	0	ADPRS (1)	0.00840	1.00000	7.663e-3	8.956e-3	
autosomal recessive nonsyndromic hearing loss 102	Nonsyndromic hearing loss	1	1	EPS8 (4)	0.00840	1.00000	7.663e-3	8.956e-3	31
autosomal recessive nonsyndromic hearing loss 63	Nonsyndromic hearing loss	1	1	LRTOMT (2)	0.00840	1.00000	7.663e-3	8.956e-3	31
Chromosome 1q deletion syndrome	complex neurodevelopmental disorder	1	1	ZBTB18 (3)	0.00840	1.00000	7.663e-3	8.956e-3	
Chromosome 1q43-q44 deletion syndrome	complex neurodevelopmental disorder	1	1	ZBTB18 (2)	0.00840	1.00000	7.663e-3	8.956e-3	
Biliary tract cancer	Chromosome 20q11-q12 deletion syndrome	1	1	EPB41L1 (3)	0.00840	1.00000	7.663e-3	8.956e-3	
Chromosome 20q11-q12 deletion syndrome	complex neurodevelopmental disorder	1	1	EPB41L1 (3)	0.00840	1.00000	7.663e-3	8.956e-3	
Clark-baraitser syndrome	complex neurodevelopmental disorder	1	1	TRIP12 (5)	0.00840	1.00000	7.663e-3	8.956e-3	6
complex neurodevelopmental disorder	Den hoed-de boer-voisin syndrome	1	1	SATB1 (3)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Developmental delay with behavioral abnormalities	1	1	ADGRL1 (5)	0.00840	1.00000	7.663e-3	8.956e-3	
complex neurodevelopmental disorder	Developmental delay with dysmorphic facies and dental anomalies	1	1	SATB1 (4)	0.00840	1.00000	7.663e-3	8.956e-3	
dilated cardiomyopathy 1J	Nonsyndromic hearing loss	1	1	EYA4 (4)	0.00840	1.00000	7.663e-3	8.956e-3	
Male infertility round headed spermatozoa	Substance-induced psychosis	1	1	PICK1 (2)	0.04167	0.14286	7.704e-3	9.001e-3	
Graft versus host disease	Larsen syndrome	1	1	XYLT1 (2)	0.04167	0.14286	7.704e-3	9.001e-3	
Graft versus host disease	Male reproductive organ cancer	1	0	LRATD1 (1)	0.04167	0.14286	7.704e-3	9.001e-3	
Hypotrichosis	Peeling skin syndrome	1	1	CDSN (7)	0.04167	0.14286	7.704e-3	9.001e-3	
Mitochondrial complex deficiency	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	1	1	NARS1 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Mitochondrial complex deficiency	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	1	1	NARS1 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Isolated sensorineural deafness	optic atrophy 13 with retinal and foveal abnormalities	1	1	SSBP1 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
high myopia-sensorineural deafness syndrome	Isolated sensorineural deafness	1	1	SLITRK6 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Hurthle cell thyroid cancer	Mitochondrial complex deficiency	1	1	NDUFA13 (5)	0.00833	1.00000	7.728e-3	9.016e-3	
Isolated sensorineural deafness	Worster drought syndrome	1	0	TMTC4 (1)	0.00833	1.00000	7.728e-3	9.016e-3	31
Atherosclerosis	primary ciliary dyskinesia 10	1	1	DNAAF2 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Atherosclerosis	Gastroschisis	1	0	ADD1 (1)	0.00833	1.00000	7.728e-3	9.016e-3	
Atherosclerosis	glycogen storage disease III	1	1	AGL (2)	0.00833	1.00000	7.728e-3	9.016e-3	
hearing loss, autosomal recessive 119	Isolated sensorineural deafness	1	1	AFG2B (2)	0.00833	1.00000	7.728e-3	9.016e-3	
hearing loss, autosomal recessive 120	Isolated sensorineural deafness	1	1	MINAR2 (2)	0.00833	1.00000	7.728e-3	9.016e-3	31
Isolated sensorineural deafness	Sensorineural deafness with renal dysfunction	1	0	BSND (1)	0.00833	1.00000	7.728e-3	9.016e-3	
Isolated sensorineural deafness	Sensorineural hearing loss-spastic quadriplegia–intellectual disability	1	1	AFG2B (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Mitochondrial complex deficiency	Mitochondrial encephalocardiomyopathy	1	1	TMEM70 (5)	0.00833	1.00000	7.728e-3	9.016e-3	62
Deafness and myopia	Isolated sensorineural deafness	1	1	SLITRK6 (3)	0.00833	1.00000	7.728e-3	9.016e-3	
autosomal recessive nonsyndromic hearing loss 102	Isolated sensorineural deafness	1	1	EPS8 (2)	0.00833	1.00000	7.728e-3	9.016e-3	31
autosomal recessive nonsyndromic hearing loss 63	Isolated sensorineural deafness	1	1	LRTOMT (2)	0.00833	1.00000	7.728e-3	9.016e-3	31
Bartter disease type 4A	Isolated sensorineural deafness	1	1	BSND (2)	0.00833	1.00000	7.728e-3	9.016e-3	
acyl-CoA dehydrogenase 9 deficiency	Mitochondrial complex deficiency	1	1	ACAD9 (3)	0.00833	1.00000	7.728e-3	9.016e-3	
Acyl-coa dehydrogenase deficiency	Mitochondrial complex deficiency	1	1	ACAD9 (3)	0.00833	1.00000	7.728e-3	9.016e-3	
Alpha-methylacyl-coa racemase deficiency	Mitochondrial complex deficiency	1	1	AMACR (3)	0.00833	1.00000	7.728e-3	9.016e-3	
Bjornstad syndrome	Mitochondrial complex deficiency	1	1	BCS1L (8)	0.00833	1.00000	7.728e-3	9.016e-3	
Cockayne syndrome type 1	Mitochondrial complex deficiency	1	1	ERCC8 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Atherosclerosis	congenital disorder of glycosylation, type iit	1	1	GALNT2 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Atherosclerosis	Congenital malabsorptive diarrhea	1	1	NEUROG3 (3)	0.00833	1.00000	7.728e-3	9.016e-3	
Atherosclerosis	Congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency	1	1	NEUROG3 (2)	0.00833	1.00000	7.728e-3	9.016e-3	
Atherosclerosis	Cerebrotendinous xanthomatosis	1	1	CYP27A1 (6)	0.00833	1.00000	7.728e-3	9.016e-3	
Atherosclerosis	Cholestanol storage disease	1	1	CYP27A1 (3)	0.00833	1.00000	7.728e-3	9.016e-3	
Periprosthetic osteolysis	Tooth abnormalities	1	1	TBX3 (2)	0.04545	0.10000	7.768e-3	9.062e-3	
Congenital disorder of deglycosylation	Hyperlipoproteinemia	1	0	NEIL1 (1)	0.02326	0.33333	7.773e-3	9.067e-3	
Congenital cataract	Congenital cataract facial dysmorphism neuropathy syndrome	1	1	GJA3 (2)	0.01613	0.50000	7.778e-3	9.067e-3	51
Aortic stenosis	Carey-fineman-ziter syndrome	1	1	MYMK (5)	0.01613	0.50000	7.778e-3	9.067e-3	
Brachydactyly-elbow wrist dysplasia syndrome	Testicular carcinoma	1	1	PITX1 (3)	0.01613	0.50000	7.778e-3	9.067e-3	
Congenital cataract	Congenital lamellar cataract	1	1	HSF4 (2)	0.01613	0.50000	7.778e-3	9.067e-3	51
Frontotemporal dementia	Oculopharyngeal muscular dystrophy	1	1	HNRNPA2B1 (4)	0.01613	0.50000	7.778e-3	9.067e-3	
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	Testicular carcinoma	1	1	MCM3AP (6)	0.01613	0.50000	7.778e-3	9.067e-3	
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	Testicular germ cell tumor	1	1	MCM3AP (6)	0.01613	0.50000	7.778e-3	9.067e-3	
Frontotemporal dementia	Masp2 deficiency	1	0	TARDBP (1)	0.01613	0.50000	7.778e-3	9.067e-3	
mucolipidosis type IV	Spastic paraplegia	1	1	MCOLN1 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
mucopolysaccharidosis type 1	Nephrolithiasis	1	1	IDUA (2)	0.00826	1.00000	7.793e-3	9.067e-3	
neurodegenerative disease	Spastic paraplegia	1	1	IRF2BPL (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	obsolete antenatal Bartter syndrome	1	1	SLC12A1 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Pelizaeus-Merzbacher spectrum disorder	Spastic paraplegia	1	1	PLP1 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	Uric acid urolithiasis	1	1	ZNF365 (3)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	Uridine-cytidineuria	1	1	SLC28A1 (3)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	vertebral anomalies and variable endocrine and t-cell dysfunction	1	1	TBX2 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	Vitamin k deficiency	1	0	BGLAP (1)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	X-linked nephrolithiasis	1	1	CLCN5 (4)	0.00826	1.00000	7.793e-3	9.067e-3	
Erythrocyte amp deaminase deficiency	Nephrolithiasis	1	1	AMPD3 (5)	0.00826	1.00000	7.793e-3	9.067e-3	
fatty acyl-CoA reductase 1 deficiency	Spastic paraplegia	1	1	FAR1 (4)	0.00826	1.00000	7.793e-3	9.067e-3	
fatty acyl-CoA reductase 1 upregulation	Spastic paraplegia	1	1	FAR1 (4)	0.00826	1.00000	7.793e-3	9.067e-3	
kufor-rakeb syndrome	Spastic paraplegia	1	1	ATP13A2 (7)	0.00826	1.00000	7.793e-3	9.067e-3	
inherited pseudoxanthoma elasticum	Nephrolithiasis	1	1	ABCC6 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Sensory ataxia	Spastic paraplegia	1	1	RNF170 (5)	0.00826	1.00000	7.793e-3	9.067e-3	
Spastic paraplegia	Thiamine-responsive encephalopathy	1	1	SLC19A3 (3)	0.00826	1.00000	7.793e-3	9.067e-3	
Peroxisomal fatty acyl-coa reductase 1 disorder	Spastic paraplegia	1	1	FAR1 (4)	0.00826	1.00000	7.793e-3	9.067e-3	
Regressive neurodevelopmental disorder dystonia seizures	Spastic paraplegia	1	0	IRF2BPL (1)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	renal hypomagnesemia 3	1	1	CLDN16 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	1	1	ATP6V1B1 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Nephrolithiasis	retinitis pigmentosa 47	1	1	SAG (2)	0.00826	1.00000	7.793e-3	9.067e-3	
fructose-1,6-bisphosphatase deficiency	Nephrolithiasis	1	1	FBP1 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
glutamate pyruvate transaminase 2 deficiency	Spastic paraplegia	1	1	GPT2 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
hereditary spastic paraplegia 11	Spastic paraplegia	1	1	SPG11 (5)	0.00826	1.00000	7.793e-3	9.067e-3	242
hereditary spastic paraplegia 18	Spastic paraplegia	1	1	ERLIN2 (6)	0.00826	1.00000	7.793e-3	9.067e-3	242
hereditary spastic paraplegia 35	Spastic paraplegia	1	1	FA2H (5)	0.00826	1.00000	7.793e-3	9.067e-3	
hereditary spastic paraplegia 62	Spastic paraplegia	1	1	ERLIN1 (5)	0.00826	1.00000	7.793e-3	9.067e-3	242
Congenital hypoplasia of penis	Spastic paraplegia	1	0	PHF6 (1)	0.00826	1.00000	7.793e-3	9.067e-3	
3-hydroxyisobutyric aciduria	Nephrolithiasis	1	1	HIBADH (3)	0.00826	1.00000	7.793e-3	9.067e-3	180
Alanine-glyoxylate aminotransferase deficiency	Nephrolithiasis	1	1	AGXT (3)	0.00826	1.00000	7.793e-3	9.067e-3	
Allan-herndon-dudley syndrome	Spastic paraplegia	1	1	SLC16A2 (3)	0.00826	1.00000	7.793e-3	9.067e-3	242
ALS2-related motor neuron disease	Spastic paraplegia	1	1	ALS2 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Amr syndrome	Nephrolithiasis	1	1	AHSG (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Dent disease type 1	Nephrolithiasis	1	1	CLCN5 (3)	0.00826	1.00000	7.793e-3	9.067e-3	
Ataxia, sensory, autosomal dominant	Spastic paraplegia	1	1	RNF170 (6)	0.00826	1.00000	7.793e-3	9.067e-3	
Biotin-responsive basal ganglia disease	Spastic paraplegia	1	1	SLC19A3 (3)	0.00826	1.00000	7.793e-3	9.067e-3	
Biotin-thiamine-responsive basal ganglia disease	Spastic paraplegia	1	1	SLC19A3 (2)	0.00826	1.00000	7.793e-3	9.067e-3	
Borjeson-forssman-lehmann syndrome	Spastic paraplegia	1	1	PHF6 (7)	0.00826	1.00000	7.793e-3	9.067e-3	
Brainstem atrophy	Spastic paraplegia	1	0	MCOLN1 (1)	0.00826	1.00000	7.793e-3	9.067e-3	
Cataract-neurodevelopmental syndrome	Spastic paraplegia	1	1	FAR1 (5)	0.00826	1.00000	7.793e-3	9.067e-3	
Chromosome 15q deletion syndrome	Nephrolithiasis	1	1	MCTP2 (3)	0.00826	1.00000	7.793e-3	9.067e-3	
CERKL-related retinopathy	Peptic ulcer disease	1	1	CERKL (2)	0.00820	1.00000	7.858e-3	9.136e-3	
Cernunnos-XLF deficiency	Peptic ulcer disease	1	1	NHEJ1 (2)	0.00820	1.00000	7.858e-3	9.136e-3	
Chromosome 12p deletion syndrome	Peptic ulcer disease	1	1	ERC1 (3)	0.00820	1.00000	7.858e-3	9.136e-3	
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome	Peptic ulcer disease	1	1	HYAL2 (3)	0.00820	1.00000	7.858e-3	9.136e-3	
cone-rod dystrophy 20	Peptic ulcer disease	1	1	POC1B (2)	0.00820	1.00000	7.858e-3	9.136e-3	
hermansky-pudlak syndrome 8	Peptic ulcer disease	1	1	BLOC1S3 (2)	0.00820	1.00000	7.858e-3	9.136e-3	
maternal riboflavin deficiency	Peptic ulcer disease	1	1	SLC52A1 (2)	0.00820	1.00000	7.858e-3	9.136e-3	
Muggenthaler-chowdhury-chioza syndrome	Peptic ulcer disease	1	1	HYAL2 (3)	0.00820	1.00000	7.858e-3	9.136e-3	
Epilepsy due to perinatal stroke	Peptic ulcer disease	1	1	ST3GAL3 (2)	0.00820	1.00000	7.858e-3	9.136e-3	
Peptic ulcer disease	Riboflavin deficiency	1	1	SLC52A1 (4)	0.00820	1.00000	7.858e-3	9.136e-3	
Peptic ulcer disease	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	1	1	SLC10A7 (2)	0.00820	1.00000	7.858e-3	9.136e-3	
Peptic ulcer disease	Tessadori-Van Haaften neurodevelopmental syndrome 3	1	1	H4C5 (2)	0.00820	1.00000	7.858e-3	9.136e-3	
Peptic ulcer disease	tetraamelia syndrome 1	1	1	WNT3 (2)	0.00820	1.00000	7.858e-3	9.136e-3	
Myositis	Neuroocular syndrome	1	1	PRR12 (5)	0.01587	0.50000	7.908e-3	9.193e-3	22
Huntington disease	Rib fracture	1	0	TENM2 (1)	0.01587	0.50000	7.908e-3	9.193e-3	
Thoracic aortic aneurysm and aortic dissection	Throat disease	1	1	GATA5 (2)	0.02273	0.33333	7.967e-3	9.262e-3	
Pachyonychia congenita	Seborrheic keratosis	1	1	KRT6A (7)	0.02857	0.25000	8.029e-3	9.333e-3	
Developmental delay with impaired growth and dysmorphic facies	Distal spinal muscular atrophy	1	1	MORC2 (4)	0.02857	0.25000	8.029e-3	9.333e-3	
Cystic fibrosis	Pancreatic trypsinogen deficiency	1	1	PRSS1 (2)	0.01563	0.50000	8.037e-3	9.341e-3	
Aortic aneurysm	Vitreous body disease	1	0	NCKAP5 (1)	0.01563	0.50000	8.037e-3	9.341e-3	50
Gallstones	Urban-schosser-spohr syndrome	1	1	SREBF1 (2)	0.00800	1.00000	8.053e-3	9.355e-3	
Gallstones	VPS11-related neurological disorder	1	1	VPS11 (2)	0.00800	1.00000	8.053e-3	9.355e-3	
Gallstones	Mucoepithelial dysplasia	1	1	SREBF1 (2)	0.00800	1.00000	8.053e-3	9.355e-3	
Gallstones	Intestinal dysmotility syndrome	1	1	ANO1 (4)	0.00800	1.00000	8.053e-3	9.355e-3	
Gallstones	johanson-blizzard syndrome	1	1	UBR1 (2)	0.00800	1.00000	8.053e-3	9.355e-3	239
Gallstones	TRAF3 haploinsufficiency	1	1	TRAF3 (2)	0.00800	1.00000	8.053e-3	9.355e-3	
cone-rod dystrophy 20	Gallstones	1	1	POC1B (2)	0.00800	1.00000	8.053e-3	9.355e-3	239
ADAR-related type 1 interferonopathy	Gallstones	1	1	ADAR (2)	0.00800	1.00000	8.053e-3	9.355e-3	
Anterior maxillary protrusion-strabismus-intellectual disability syndrome	Psychotic disorders	1	1	SOBP (2)	0.00794	1.00000	8.118e-3	9.424e-3	
Congenital brain dysgenesis due to glutamine synthetase deficiency	Psychotic disorders	1	1	GLUL (5)	0.00794	1.00000	8.118e-3	9.424e-3	
cardiomyopathy, dilated, 2g	Psychotic disorders	1	1	LMOD2 (2)	0.00794	1.00000	8.118e-3	9.424e-3	
Benign essential blepharospasm	Psychotic disorders	1	1	DRD5 (2)	0.00794	1.00000	8.118e-3	9.424e-3	
Blepharospasm	Psychotic disorders	1	1	DRD5 (3)	0.00794	1.00000	8.118e-3	9.424e-3	
atypical glycine encephalopathy	Psychotic disorders	1	1	SLC6A9 (2)	0.00794	1.00000	8.118e-3	9.424e-3	
Psychotic disorders	surfactant metabolism dysfunction, pulmonary, 5	1	1	CSF2RB (2)	0.00794	1.00000	8.118e-3	9.424e-3	
microcephalic osteodysplastic primordial dwarfism type II	Psychotic disorders	1	1	PCNT (2)	0.00794	1.00000	8.118e-3	9.424e-3	
phelan-mcdermid syndrome	Psychotic disorders	1	1	SHANK3 (2)	0.00794	1.00000	8.118e-3	9.424e-3	
pediatric systemic lupus erythematosus	Psychotic disorders	1	1	SAT1 (2)	0.00794	1.00000	8.118e-3	9.424e-3	
Intellectual disability, anterior maxillary protrusion, and strabismus	Psychotic disorders	1	1	SOBP (2)	0.00794	1.00000	8.118e-3	9.424e-3	
Hypertryptophanemia	Psychotic disorders	1	1	TDO2 (6)	0.00794	1.00000	8.118e-3	9.424e-3	
extraoral halitosis due to methanethiol oxidase deficiency	Psychotic disorders	1	1	SELENBP1 (2)	0.00794	1.00000	8.118e-3	9.424e-3	
familial hypertryptophanemia	Psychotic disorders	1	1	TDO2 (2)	0.00794	1.00000	8.118e-3	9.424e-3	
Navajo neurohepatopathy	Proteinuria	1	1	MPV17 (3)	0.02222	0.33333	8.161e-3	9.472e-3	
Dent disease	Proteinuria	1	1	CLCN5 (7)	0.02222	0.33333	8.161e-3	9.472e-3	
Diencephalic mesencephalic junction dysplasia	Lupus nephritis	1	1	GSX2 (5)	0.02222	0.33333	8.161e-3	9.472e-3	
Congenital disorder of deglycosylation	Hyperinsulinism	1	1	NEIL1 (2)	0.02222	0.33333	8.161e-3	9.472e-3	
Brain disease	Carnitine palmitoyltransferase deficiency	1	1	CPT2 (8)	0.02222	0.33333	8.161e-3	9.472e-3	
17 alpha-hydroxyprogesterone aldolase deficiency	Carpal tunnel syndrome	1	1	AKR1C2 (2)	0.01538	0.50000	8.166e-3	9.477e-3	
Brugada syndrome	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	1	0	LIPT2 (1)	0.01538	0.50000	8.166e-3	9.477e-3	
epidermodysplasia verruciformis, susceptibility to, 4	Vitiligo	1	1	RHOH (2)	0.00787	1.00000	8.183e-3	9.493e-3	
isolated sulfite oxidase deficiency	Vitiligo	1	1	SUOX (2)	0.00787	1.00000	8.183e-3	9.493e-3	
carnitine palmitoyl transferase 1A deficiency	Vitiligo	1	1	CPT1A (2)	0.00787	1.00000	8.183e-3	9.493e-3	
Charcot-Marie-Tooth disease, demyelinating, type 1J	Vitiligo	1	1	ITPR3 (2)	0.00787	1.00000	8.183e-3	9.493e-3	309
developmental and epileptic encephalopathy, 41	Vitiligo	1	1	SLC1A2 (2)	0.00787	1.00000	8.183e-3	9.493e-3	
Chromosomal instability	Lymphedema	1	1	KIF11 (2)	0.04167	0.12500	8.284e-3	9.611e-3	
Azoospermia	Cryptospermia	1	0	DMC1 (1)	0.02778	0.25000	8.288e-3	9.614e-3	
Hyperuricemia	Infantile liver failure	1	1	SCYL1 (2)	0.01515	0.50000	8.296e-3	9.623e-3	
Biliary cirrhosis	immunodeficiency 19	1	1	CD3D (2)	0.00775	1.00000	8.313e-3	9.630e-3	
immunodeficiency, common variable, 7	Systemic sclerosis	1	1	CR2 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
Biliary cirrhosis	Inner ear disease	1	0	CENPB (1)	0.00775	1.00000	8.313e-3	9.630e-3	288
microcephalic osteodysplastic primordial dwarfism type II	Vascular dementia	1	1	PCNT (2)	0.00775	1.00000	8.313e-3	9.630e-3	
netherton syndrome	Vascular dementia	1	1	SPINK5 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
Proximal renal tubular acidosis	Vascular dementia	1	1	SLC4A4 (3)	0.00775	1.00000	8.313e-3	9.630e-3	
SAMD9L-related spectrum and myeloid neoplasm risk	Systemic sclerosis	1	1	SAMD9L (2)	0.00775	1.00000	8.313e-3	9.630e-3	
thrombocytopenia 3	Vascular dementia	1	1	FYB1 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Vascular dementia	1	1	CHMP2B (2)	0.00775	1.00000	8.313e-3	9.630e-3	
HELIOS deficiency	Systemic sclerosis	1	1	IKZF2 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
hermansky-pudlak syndrome 6	Vascular dementia	1	1	HPS6 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
Familial danish dementia	Vascular dementia	1	1	ITM2B (2)	0.00775	1.00000	8.313e-3	9.630e-3	
Congenital small-platelet thrombocytopenia	Vascular dementia	1	1	FYB1 (3)	0.00775	1.00000	8.313e-3	9.630e-3	
Biliary cirrhosis	Cranioosteoarthropathy	1	1	HPGD (4)	0.00775	1.00000	8.313e-3	9.630e-3	
Biliary cirrhosis	Childhood-onset sensorineural hearing impairment	1	1	PRORP (2)	0.00775	1.00000	8.313e-3	9.630e-3	
Choreoacanthocytosis	Vascular dementia	1	1	VPS13A (3)	0.00775	1.00000	8.313e-3	9.630e-3	
Abri amyloidosis	Vascular dementia	1	1	ITM2B (2)	0.00775	1.00000	8.313e-3	9.630e-3	
amyotrophic lateral sclerosis type 15	Vascular dementia	1	1	UBQLN2 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
anterior segment dysgenesis 7	Systemic sclerosis	1	1	PXDN (2)	0.00775	1.00000	8.313e-3	9.630e-3	
Ataxia-pancytopenia syndrome	Systemic sclerosis	1	1	SAMD9L (5)	0.00775	1.00000	8.313e-3	9.630e-3	
autosomal systemic lupus erythematosus type 16	Systemic sclerosis	1	1	DNASE1L3 (2)	0.00775	1.00000	8.313e-3	9.630e-3	22
Biliary cirrhosis	Digital clubbing, isolated congenital	1	1	HPGD (2)	0.00775	1.00000	8.313e-3	9.630e-3	
dilated cardiomyopathy 1V	Vascular dementia	1	1	PSEN2 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
Beukes hip dysplasia	Systemic sclerosis	1	1	UFSP2 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
brain small vessel disease 3	Vascular dementia	1	1	COLGALT1 (2)	0.00775	1.00000	8.313e-3	9.630e-3	
amyotrophic lateral sclerosis type 18	Esophageal squamous cell carcinoma	1	1	PFN1 (2)	0.00769	1.00000	8.378e-3	9.702e-3	4
Developmental delay with hypotonia and impaired language	Esophageal squamous cell carcinoma	1	1	FBXW7 (5)	0.00769	1.00000	8.378e-3	9.702e-3	
Esophageal squamous cell carcinoma	Sebocystomatosis	1	1	KRT17 (3)	0.00769	1.00000	8.378e-3	9.702e-3	
Esophageal squamous cell carcinoma	hepatic veno-occlusive disease-immunodeficiency syndrome	1	1	SP110 (2)	0.00769	1.00000	8.378e-3	9.702e-3	
Esophageal squamous cell carcinoma	kabuki syndrome 2	1	1	KDM6A (2)	0.00769	1.00000	8.378e-3	9.702e-3	
Esophageal squamous cell carcinoma	lethal occipital encephalocele-skeletal dysplasia syndrome	1	1	CYP26B1 (2)	0.00769	1.00000	8.378e-3	9.702e-3	
15q13.3 microdeletion syndrome	Generalized epilepsy	1	1	CHRNA7 (5)	0.01493	0.50000	8.425e-3	9.756e-3	
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome	Juvenile arthritis	1	1	FOSL2 (2)	0.00763	1.00000	8.443e-3	9.774e-3	
cardiomyopathy, dilated, 2k	Juvenile arthritis	1	1	MYZAP (2)	0.00763	1.00000	8.443e-3	9.774e-3	320
Aplasia cutis-enamel dysplasia syndrome	Juvenile arthritis	1	1	FOSL2 (5)	0.00763	1.00000	8.443e-3	9.774e-3	
combined immunodeficiency due to moesin deficiency	Juvenile arthritis	1	1	MSN (2)	0.00763	1.00000	8.443e-3	9.774e-3	
Enamel-renal syndrome	Juvenile arthritis	1	1	FAM20A (2)	0.00763	1.00000	8.443e-3	9.774e-3	
extraoral halitosis due to methanethiol oxidase deficiency	Ovarian neoplasms	1	1	SELENBP1 (2)	0.00758	1.00000	8.508e-3	9.846e-3	4
familial ovarian cancer	Ovarian neoplasms	1	1	BRIP1 (2)	0.00758	1.00000	8.508e-3	9.846e-3	
fanconi anemia complementation group j	Ovarian neoplasms	1	1	BRIP1 (2)	0.00758	1.00000	8.508e-3	9.846e-3	
Ovarian neoplasms	X-linked dominant chondrodysplasia chassaing-lacombe type	1	1	HDAC6 (5)	0.00758	1.00000	8.508e-3	9.846e-3	
Ovarian neoplasms	RAD51D-related cancer predisposition	1	1	RAD51D (2)	0.00758	1.00000	8.508e-3	9.846e-3	
craniosynostosis and dental anomalies	Ovarian neoplasms	1	1	IL11RA (2)	0.00758	1.00000	8.508e-3	9.846e-3	
Brunet-wagner neurodevelopmental syndrome	Ovarian neoplasms	1	1	RBL2 (5)	0.00758	1.00000	8.508e-3	9.846e-3	
complex neurodevelopmental disorder with motor features	Dysarthria	1	1	KMT2B (2)	0.03571	0.16667	8.543e-3	9.887e-3	
Hypoxia	Very long chain acyl-coa dehydrogenase deficiency	1	1	ACADVL (6)	0.02703	0.25000	8.546e-3	9.889e-3	
Hereditary motor and sensory neuropathies	Peho syndrome	1	1	KIF1A (2)	0.01471	0.50000	8.554e-3	9.897e-3	
Cerebellar, ocular, craniofacial, and genital syndrome	Interstitial lung disease	1	1	NBEA (2)	0.01471	0.50000	8.554e-3	9.897e-3	
Cerebellar, ocular, craniofacial, and genital syndrome	Urinary bladder cancer	1	1	NBEA (2)	0.01471	0.50000	8.554e-3	9.897e-3	
Chromosome 16p11.2 deletion syndrome	Interstitial lung disease	1	1	SFTPA1 (5)	0.01471	0.50000	8.554e-3	9.897e-3	
Charcot-marie-tooth disease	Charcot-Marie-Tooth disease axonal type 2CC	1	1	NEFH (5)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	Charcot-Marie-Tooth disease type 4B2	1	1	SBF2 (7)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	Charcot-Marie-tooth disease, axonal, type 2DD	1	1	ATP1A1 (6)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	Charcot-Marie-Tooth disease, axonal, type 2FF	1	1	CADM3 (5)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	Charcot-Marie-Tooth disease, demyelinating, type 1J	1	1	ITPR3 (5)	0.00752	1.00000	8.573e-3	9.902e-3	
Bilateral congenital vertical talus	Charcot-marie-tooth disease	1	1	HOXD10 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome	Endometrial neoplasms	1	1	BPTF (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Congenital hereditary facial paralysis with variable hearing loss syndrome	Endometrial neoplasms	1	1	HOXB1 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Congenital lipoid adrenal hyperplasia	Endometrial neoplasms	1	1	STAR (5)	0.00752	1.00000	8.573e-3	9.902e-3	
colorectal cancer, hereditary nonpolyposis, type 7	Endometrial neoplasms	1	1	MLH3 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	Congenital cataract microcephaly intellectual disability syndrome	1	1	MED25 (6)	0.00752	1.00000	8.573e-3	9.902e-3	
Congenital external auditory canal atresia	Endometrial neoplasms	1	1	TSHZ1 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Developmental delay with hypotonia and impaired language	Endometrial neoplasms	1	1	FBXW7 (5)	0.00752	1.00000	8.573e-3	9.902e-3	
aural atresia, congenital	Endometrial neoplasms	1	1	TSHZ1 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Axonal neuropathy with neuromyotonia	Charcot-marie-tooth disease	1	1	HINT1 (5)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	neuronopathy, distal hereditary motor, autosomal recessive 5	1	1	DNAJB2 (5)	0.00752	1.00000	8.573e-3	9.902e-3	13
Charcot-marie-tooth disease	neuropathy, hereditary sensory and autonomic, type 1A	1	1	SPTLC1 (3)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	neuropathy, hereditary sensory and autonomic, type 1C	1	1	SPTLC2 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	neuropathy, hereditary sensory, type 1F	1	1	ATL3 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	PHARC syndrome	1	1	ABHD12 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	Riley-day syndrome	1	1	ELP1 (3)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	nephrotic syndrome 14	1	1	SGPL1 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Endometrial neoplasms	familial adenomatous polyposis 4	1	1	MSH3 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	Vertical talus	1	1	HOXD10 (3)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	X-linked hereditary motor and sensory neuropathy	1	1	DRP2 (3)	0.00752	1.00000	8.573e-3	9.902e-3	13
Endometrial neoplasms	fructose-1,6-bisphosphatase deficiency	1	1	FBP1 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	giant axonal neuropathy 1	1	1	GAN (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Charcot-marie-tooth disease	hereditary spastic paraplegia 11	1	1	SPG11 (7)	0.00752	1.00000	8.573e-3	9.902e-3	
Endometrial neoplasms	Serrated polyposis	1	1	RNF43 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Endometrial neoplasms	sessile serrated polyposis cancer syndrome	1	1	RNF43 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Endometrial neoplasms	spinocerebellar ataxia, autosomal recessive 23	1	1	TDP2 (2)	0.00752	1.00000	8.573e-3	9.902e-3	
Blepharoptosis	Corticobasal degeneration	1	1	SOS1 (2)	0.03846	0.14286	8.607e-3	9.941e-3	49
Congenital ichthyosis with hypotrichosis syndrome	Myopia	1	0	ST14 (1)	0.00746	1.00000	8.637e-3	9.971e-3	
Bone marrow failure and diabetes mellitus syndrome	Myopia	1	1	DUT (4)	0.00746	1.00000	8.637e-3	9.971e-3	262
cardiomyopathy, dilated, 2j	Myopia	1	1	FLII (2)	0.00746	1.00000	8.637e-3	9.971e-3	262
Cerebrofacial arteriovenous metameric syndrome	Myopia	1	0	GNA14 (1)	0.00746	1.00000	8.637e-3	9.971e-3	
Myopia	neurodevelopmental disorder with or without seizures and gait abnormalities	1	1	GRIA4 (3)	0.00746	1.00000	8.637e-3	9.971e-3	262
Myopia	Rothmund-Thomson syndrome type 1	1	1	ANAPC1 (2)	0.00746	1.00000	8.637e-3	9.971e-3	
glycogen storage disease V	Myopia	1	1	PYGM (2)	0.00746	1.00000	8.637e-3	9.971e-3	
hartnup disease	Myopia	1	1	SLC6A19 (2)	0.00746	1.00000	8.637e-3	9.971e-3	
Myopia	Uridine-cytidineuria	1	1	SLC28A1 (3)	0.00746	1.00000	8.637e-3	9.971e-3	
Macular degeneration	Microphthalmia with retinitis pigmentosa and ocular anomalies	1	1	C1QTNF5 (2)	0.01449	0.50000	8.684e-3	1.002e-2	
Camos syndrome	Hirschsprung disease	1	1	ZNF592 (2)	0.01449	0.50000	8.684e-3	1.002e-2	
Carbohydrate deficient glycoprotein syndrome	Hirschsprung disease	1	0	TMEM165 (1)	0.01449	0.50000	8.684e-3	1.002e-2	
Autonomic nervous system disease	Hirschsprung disease	1	1	ECE1 (5)	0.01449	0.50000	8.684e-3	1.002e-2	
Irritable bowel syndrome	nizon-isidor syndrome	1	1	MED12L (2)	0.00741	1.00000	8.702e-3	1.004e-2	
Irritable bowel syndrome	polycystic kidney disease 3 with or without polycystic liver disease	1	1	GANAB (2)	0.00741	1.00000	8.702e-3	1.004e-2	
Salt-sensitive hypertension	Thrombosis	1	1	CYP3A5 (2)	0.02083	0.33333	8.742e-3	1.009e-2	
Congenital myopathy	Malignant glioma	1	1	PAX7 (4)	0.02083	0.33333	8.742e-3	1.009e-2	
Galactosialidosis	Non-immune hydrops fetalis	1	1	CTSA (4)	0.02083	0.33333	8.742e-3	1.009e-2	
glycosylphosphatidylinositol biosynthesis defect 21	Non-hodgkins lymphoma	1	1	PIGU (2)	0.00735	1.00000	8.767e-3	1.011e-2	
friedreich ataxia	Non-hodgkins lymphoma	1	1	FXN (2)	0.00735	1.00000	8.767e-3	1.011e-2	72
autosomal agammaglobulinemia	Non-hodgkins lymphoma	1	1	TCF3 (2)	0.00735	1.00000	8.767e-3	1.011e-2	
Chromosome 20q11-q12 deletion syndrome	Non-hodgkins lymphoma	1	1	EPB41L1 (3)	0.00735	1.00000	8.767e-3	1.011e-2	
Ataxia, spastic, autosomal recessive	Combined oxidative phosphorylation deficiency	1	1	MARS2 (6)	0.01429	0.50000	8.813e-3	1.017e-2	
Combined oxidative phosphorylation deficiency	Sandhoff disease	1	1	GFM2 (5)	0.01429	0.50000	8.813e-3	1.017e-2	62
Hyperprolinemia	Nervous system disease	1	1	PRODH (6)	0.01429	0.50000	8.813e-3	1.017e-2	
Nervous system disease	Omodysplasia	1	1	GPC6 (6)	0.01429	0.50000	8.813e-3	1.017e-2	
Appendiceal disorder	Glioblastoma	2	0	FFAR2 (1), KRTDAP (1)	0.00328	0.50000	8.829e-3	1.018e-2	
Parenchymal hematoma	Skeletal dysplasia	1	1	SEMA3A (2)	0.03448	0.16667	8.930e-3	1.030e-2	
Cole-carpenter syndrome	Retinal detachment	1	1	CRTAP (3)	0.02041	0.33333	8.936e-3	1.031e-2	
combined immunodeficiency due to CD3gamma deficiency	Immunodeficiency	1	1	CD3G (4)	0.00714	1.00000	9.027e-3	1.034e-2	10
combined immunodeficiency due to GINS1 deficiency	Immunodeficiency	1	1	GINS1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	10
combined immunodeficiency due to MALT1 deficiency	Immunodeficiency	1	1	MALT1 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
combined immunodeficiency due to moesin deficiency	Immunodeficiency	1	1	MSN (3)	0.00714	1.00000	9.027e-3	1.034e-2	10
combined immunodeficiency due to OX40 deficiency	Immunodeficiency	1	1	TNFRSF4 (4)	0.00714	1.00000	9.027e-3	1.034e-2	10
combined immunodeficiency due to STK4 deficiency	Immunodeficiency	1	1	STK4 (4)	0.00714	1.00000	9.027e-3	1.034e-2	10
combined immunodeficiency due to ZAP70 deficiency	Immunodeficiency	1	1	ZAP70 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	congenital bile acid synthesis defect 1	1	1	HSD3B7 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
congenital disorder of glycosylation type II	Immunodeficiency	1	1	ATP6AP1 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
cardiomyopathy, dilated, 2e	Pelvic organ prolapse	1	1	JPH2 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Caudal duplication anomaly	Colorectal adenoma	1	1	AXIN1 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Cerebellar-facial-dental syndrome	Colorectal adenoma	1	1	BRF1 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Charcot-Marie-Tooth disease type 4B2	Pelvic organ prolapse	1	1	SBF2 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Charcot-Marie-Tooth disease, demyelinating, type 1J	Immunodeficiency	1	1	ITPR3 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Childhood-onset common variable immunodeficiency due to arhgef1 deficiency	Immunodeficiency	1	1	ARHGEF1 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	Congenital microvillous atrophy	1	1	MYO5B (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Congenital small-platelet thrombocytopenia	Thrombocytopenia	1	1	FYB1 (7)	0.00714	1.00000	9.027e-3	1.034e-2	
Colorectal adenoma	Craniometadiaphyseal osteosclerosis with hip dysplasia	1	1	AXIN1 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
2,8-dihydroxyadenine urolithiasis	Renal cell carcinoma	1	1	APRT (2)	0.00714	1.00000	9.027e-3	1.034e-2	
acyl-CoA binding domain containing protein 5 deficiency	Thrombocytopenia	1	1	ACBD5 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Acyl-coa binding domain containing protein deficiency	Thrombocytopenia	1	0	ACBD5 (1)	0.00714	1.00000	9.027e-3	1.034e-2	
Adenine phosphoribosyltransferase deficiency	Renal cell carcinoma	1	1	APRT (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Adenosine kinase deficiency	Pelvic organ prolapse	1	1	ADK (3)	0.00714	1.00000	9.027e-3	1.034e-2	
agammaglobulinemia 4, autosomal recessive	Colorectal adenoma	1	1	BLNK (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Allan-herndon-dudley syndrome	Cholelithiasis	1	1	SLC16A2 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
aminoacylase 1 deficiency	Renal cell carcinoma	1	1	ACY1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Aplasia and myelodysplasia	Cholelithiasis	1	1	SRP72 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
arthrogryposis, renal dysfunction, and cholestasis 1	Cholelithiasis	1	1	VPS33B (4)	0.00714	1.00000	9.027e-3	1.034e-2	
arthrogryposis, renal dysfunction, and cholestasis 1	Thrombocytopenia	1	1	VPS33B (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Cutis marmorata	Immunodeficiency	1	1	TPP2 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Cutis marmorata	Thrombocytopenia	1	0	TPP2 (1)	0.00714	1.00000	9.027e-3	1.034e-2	
Dock2 deficiency	Immunodeficiency	1	1	DOCK2 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Biliary-renal-neuro-skeletal syndrome	Pelvic organ prolapse	1	1	IFT56 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
neurodevelopmental disorder with hypotonia, neuropathy, and deafness	Renal cell carcinoma	1	1	SPTBN4 (2)	0.00714	1.00000	9.027e-3	1.034e-2	4
Immunodeficiency	neutrophil immunodeficiency syndrome	1	1	RAC2 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
NF2-related schwannomatosis	Renal cell carcinoma	1	1	NF2 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Colorectal adenoma	NF2-related schwannomatosis	1	1	NF2 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	NIK deficiency	1	1	MAP3K14 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
nizon-isidor syndrome	Thrombocytopenia	1	1	MED12L (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	non-severe combined immunodeficiency due to COPG1 deficiency	1	1	COPG1 (3)	0.00714	1.00000	9.027e-3	1.034e-2	10
obsolete Birt-Hogg-Dube syndrome	Renal cell carcinoma	1	1	FLCN (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	Peliosis hepatis	1	1	F2RL3 (2)	0.00714	1.00000	9.027e-3	1.034e-2	135
Immunodeficiency	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	1	1	ARPC1B (3)	0.00714	1.00000	9.027e-3	1.034e-2	
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	Thrombocytopenia	1	1	ARPC1B (2)	0.00714	1.00000	9.027e-3	1.034e-2	
platelet-type bleeding disorder 15	Thrombocytopenia	1	1	ACTN1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
platelet-type bleeding disorder 20	Thrombocytopenia	1	1	SLFN14 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
platelet-type von Willebrand disease	Thrombocytopenia	1	1	GP1BA (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Pelvic organ prolapse	Prader-willi-like syndrome	1	1	CPE (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	primary hyperoxaluria type 3	1	1	HOGA1 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	1	1	MCM4 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
renal hypomagnesemia 3	Thrombocytopenia	1	1	CLDN16 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Colorectal adenoma	Enteropathy	1	1	SLCO2A1 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
epidermodysplasia verruciformis, susceptibility to, 4	Immunodeficiency	1	1	RHOH (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Erythrocyte galactose epimerase deficiency	Thrombocytopenia	1	1	GALE (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Erythrocyte udp-galactose-4-epimerase deficiency	Thrombocytopenia	1	1	GALE (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Expressive language delay	Pelvic organ prolapse	1	1	KLF7 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
FADD-related immunodeficiency	Immunodeficiency	1	1	FADD (4)	0.00714	1.00000	9.027e-3	1.034e-2	
fanconi anemia complementation group i	Immunodeficiency	1	1	FANCI (2)	0.00714	1.00000	9.027e-3	1.034e-2	
FNIP1-associated syndrome	Immunodeficiency	1	1	FNIP1 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	Udp-glucose 4-epimerase deficiency	1	1	GALE (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	Upshaw-schulman syndrome	1	1	ADAMTS13 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	X-linked common variable immunodeficiency phenotype due to sh3kbp1 deficiency	1	1	SH3KBP1 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	X-linked severe congenital neutropenia	1	1	WAS (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	X-linked thrombocytopenia	1	1	WAS (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	mednik syndrome	1	1	AP1S1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	135
Immunodeficiency	Mucosa-associated lymphoma	1	1	BCL10 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	Natural killer cell deficiency	1	1	MCM4 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	severe combined immunodeficiency due to CARMIL2 deficiency	1	1	CARMIL2 (3)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	severe combined immunodeficiency due to CORO1A deficiency	1	1	CORO1A (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	severe combined immunodeficiency due to CTPS1 deficiency	1	1	CTPS1 (4)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	severe combined immunodeficiency due to DNA-PKcs deficiency	1	1	PRKDC (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	severe combined immunodeficiency due to LAT deficiency	1	1	LAT (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	severe combined immunodeficiency due to LCK deficiency	1	1	LCK (4)	0.00714	1.00000	9.027e-3	1.034e-2	10
Pelvic organ prolapse	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	1	1	ADA (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	susceptibility to respiratory infections associated with CD8alpha chain mutation	1	1	CD8A (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	thrombocytopenia 10	1	1	PTPRJ (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	1	1	RAP1B (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	thrombocytopenia 2	1	1	ANKRD26 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	thrombocytopenia 3	1	1	FYB1 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	thrombocytopenia 7	1	1	IKZF5 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	Thrombocytopenia with anemia and myelofibrosis	1	1	MPIG6B (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	Thrombocytopenia with platelet secretion defect	1	1	SLFN14 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	thrombocytopenia-absent radius syndrome	1	1	RBM8A (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Thrombocytopenia	thrombocytopenia, anemia, and myelofibrosis	1	1	MPIG6B (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	TRAF3 haploinsufficiency	1	1	TRAF3 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	Hyperbiliverdinemia	1	1	BLVRA (7)	0.00714	1.00000	9.027e-3	1.034e-2	135
Hyperinflammatory lymphoproliferative immunodeficiency	Immunodeficiency	1	1	NCKAP1L (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	hyperphenylalaninemia due to DNAJC12 deficiency	1	1	DNAJC12 (3)	0.00714	1.00000	9.027e-3	1.034e-2	135
Immunodeficiency	immunodeficiency 106, susceptibility to viral infections	1	1	IFNAR1 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 109 with lymphoproliferation	1	1	TNFRSF9 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 115 with autoinflammation	1	1	RNF31 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 121 with autoinflammation	1	1	PSMB10 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 126, susceptibility to	1	1	PTCRA (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 18	1	1	CD3E (6)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 19	1	1	CD3D (6)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 23	1	1	PGM3 (5)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 37	1	1	BCL10 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 53	1	1	RELB (5)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 61	1	1	SH3KBP1 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 62	1	1	ARHGEF1 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 64	1	1	RASGRP1 (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 65, susceptibility to viral infections	1	1	IRF9 (5)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 72 with autoinflammation	1	1	NCKAP1L (5)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	1	1	RAC2 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	1	1	RAC2 (6)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 76	1	1	FCHO1 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 78 with autoimmunity and developmental delay	1	1	TPP2 (4)	0.00714	1.00000	9.027e-3	1.034e-2	
immunodeficiency 78 with autoimmunity and developmental delay	Thrombocytopenia	1	1	TPP2 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Immunodeficiency	immunodeficiency 80 with or without congenital cardiomyopathy	1	1	MCM10 (5)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 81	1	1	LCP2 (4)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 87 and autoimmunity	1	1	DEF6 (5)	0.00714	1.00000	9.027e-3	1.034e-2	10
Immunodeficiency	immunodeficiency 96	1	1	LIG1 (4)	0.00714	1.00000	9.027e-3	1.034e-2	10
IMPDH1-related retinopathy	Pelvic organ prolapse	1	1	IMPDH1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Colorectal adenoma	Intellectual developmental disorder autism speech dysmorphic	1	1	CHD1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	Renal cell carcinoma	1	1	PIDD1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	jaberi-elahi syndrome	1	1	GTPBP2 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Colorectal adenoma	lethal occipital encephalocele-skeletal dysplasia syndrome	1	1	CYP26B1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
macrothrombocytopenia, isolated, 1, autosomal dominant	Thrombocytopenia	1	1	TUBB1 (3)	0.00714	1.00000	9.027e-3	1.034e-2	
galactose epimerase deficiency	Thrombocytopenia	1	1	GALE (4)	0.00714	1.00000	9.027e-3	1.034e-2	
Ghosal hematodiaphyseal dysplasia	Thrombocytopenia	1	1	TBXAS1 (7)	0.00714	1.00000	9.027e-3	1.034e-2	
Colorectal adenoma	glycosylphosphatidylinositol biosynthesis defect 21	1	1	PIGU (2)	0.00714	1.00000	9.027e-3	1.034e-2	
granulocytopenia with immunoglobulin abnormality	Immunodeficiency	1	1	HYOU1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
gray platelet syndrome	Thrombocytopenia	1	1	NBEAL2 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Cholelithiasis	hemochromatosis type 2A	1	1	HJV (3)	0.00714	1.00000	9.027e-3	1.034e-2	
Colorectal adenoma	hereditary mixed polyposis syndrome	1	1	GREM1 (2)	0.00714	1.00000	9.027e-3	1.034e-2	21
hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Renal cell carcinoma	1	1	FAM111B (2)	0.00714	1.00000	9.027e-3	1.034e-2	4
hermansky-pudlak syndrome 3	Thrombocytopenia	1	1	HPS3 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
hermansky-pudlak syndrome 5	Thrombocytopenia	1	1	HPS5 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
hermansky-pudlak syndrome 6	Thrombocytopenia	1	1	HPS6 (2)	0.00714	1.00000	9.027e-3	1.034e-2	
Autism	Trimethylaminuria	2	2	FMO3 (5), FMO4 (2)	0.00137	1.00000	9.022e-3	1.034e-2	
Bulimia	Graft versus host disease	1	0	PCDH7 (1)	0.03704	0.14286	9.058e-3	1.038e-2	
Congenital cerebellar ataxia	Status epilepticus	1	1	GRM1 (3)	0.01389	0.50000	9.072e-3	1.039e-2	
Ataxia, spastic, autosomal dominant	Spastic ataxia	1	1	VAMP1 (6)	0.01389	0.50000	9.072e-3	1.039e-2	
Autonomic nervous system disease	Congenital heart defects	1	1	ECE1 (2)	0.01389	0.50000	9.072e-3	1.039e-2	
Carpenter syndrome	Gastrointestinal stromal tumor	1	1	RAB23 (5)	0.02000	0.33333	9.130e-3	1.045e-2	
Neoplasms	Paraquat lung disease	1	1	SMAD7 (3)	0.02000	0.33333	9.130e-3	1.045e-2	
neurodevelopmental disorder with microcephaly, ataxia, and seizures	Nonsyndromic intellectual disability	1	1	SARS1 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
nizon-isidor syndrome	Nonsyndromic intellectual disability	1	1	MED12L (3)	0.00704	1.00000	9.157e-3	1.046e-2	
Gastroschisis	Hyperlipidemia	1	0	ADD1 (1)	0.00704	1.00000	9.157e-3	1.046e-2	
Ectopic thyroid tissue	Nonsyndromic intellectual disability	1	1	FBXO31 (3)	0.00704	1.00000	9.157e-3	1.046e-2	
Epilepsy due to perinatal stroke	Nonsyndromic intellectual disability	1	1	ST3GAL3 (2)	0.00704	1.00000	9.157e-3	1.046e-2	
familial hemophagocytic lymphohistiocytosis 3	Hyperlipidemia	1	1	UNC13D (2)	0.00704	1.00000	9.157e-3	1.046e-2	
Nonsyndromic intellectual disability	Progressive myoclonic epilepsy with renal failure	1	1	SEMA6B (5)	0.00704	1.00000	9.157e-3	1.046e-2	
Hyperlipidemia	Saccharopinuria	1	1	AASS (7)	0.00704	1.00000	9.157e-3	1.046e-2	
MAN1B1-congenital disorder of glycosylation	Nonsyndromic intellectual disability	1	1	MAN1B1 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	Nonsyndromic intellectual disability	1	1	B3GALNT2 (3)	0.00704	1.00000	9.157e-3	1.046e-2	
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Nonsyndromic intellectual disability	1	1	GEMIN5 (3)	0.00704	1.00000	9.157e-3	1.046e-2	
Intellectual developmental disorder short stature behavioral	Nonsyndromic intellectual disability	1	1	IQSEC1 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
intellectual developmental disorder with speech delay and axonal peripheral neuropathy	Nonsyndromic intellectual disability	1	1	NEMF (3)	0.00704	1.00000	9.157e-3	1.046e-2	
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Nonsyndromic intellectual disability	1	1	TRAPPC9 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
Seizures	seizures, early-onset, with neurodegeneration and brain calcifications	1	1	NRROS (5)	0.00704	1.00000	9.157e-3	1.046e-2	223
Hyperlipidemia	hyperlysinemia	1	1	AASS (7)	0.00704	1.00000	9.157e-3	1.046e-2	
hypomyelinating leukodystrophy 3	Nonsyndromic intellectual disability	1	1	AIMP1 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
Hyperlipidemia	immunodeficiency 53	1	1	RELB (2)	0.00704	1.00000	9.157e-3	1.046e-2	
Intellectual developmental disorder dysmorphic brain	Nonsyndromic intellectual disability	1	1	TRAPPC9 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
Intellectual developmental disorder growth other organ	Nonsyndromic intellectual disability	1	1	PPM1D (2)	0.00704	1.00000	9.157e-3	1.046e-2	
Intellectual developmental disorder growth seizures	Nonsyndromic intellectual disability	1	1	ABCA2 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
Intellectual developmental disorder neuropsychiatric	Nonsyndromic intellectual disability	1	1	SLC45A1 (5)	0.00704	1.00000	9.157e-3	1.046e-2	
Intellectual developmental disorder seizures language	Nonsyndromic intellectual disability	1	1	SETD1B (4)	0.00704	1.00000	9.157e-3	1.046e-2	
Apolipoprotein a5 deficiency	Hyperlipidemia	1	1	APOA5 (3)	0.00704	1.00000	9.157e-3	1.046e-2	57
Apolipoprotein c-ii deficiency	Hyperlipidemia	1	1	APOC2 (2)	0.00704	1.00000	9.157e-3	1.046e-2	
Apolipoprotein c2 deficiency	Hyperlipidemia	1	1	APOC2 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
autosomal recessive nonsyndromic hearing loss 63	Nonsyndromic intellectual disability	1	1	LRTOMT (3)	0.00704	1.00000	9.157e-3	1.046e-2	
Cranio-cervical dystonia	Seizures	1	1	ANO3 (3)	0.00704	1.00000	9.157e-3	1.046e-2	
Beta-ketothiolase deficiency	Seizures	1	1	ACAT1 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
Beukes hip dysplasia	Nonsyndromic intellectual disability	1	1	UFSP2 (3)	0.00704	1.00000	9.157e-3	1.046e-2	
combined immunodeficiency due to DOCK8 deficiency	Nonsyndromic intellectual disability	1	1	DOCK8 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
Congenital cataract microcephaly intellectual disability syndrome	Nonsyndromic intellectual disability	1	1	MED25 (4)	0.00704	1.00000	9.157e-3	1.046e-2	
congenital disorder of glycosylation, type iit	Hyperlipidemia	1	1	GALNT2 (2)	0.00704	1.00000	9.157e-3	1.046e-2	57
Al-raqad syndrome	Nonsyndromic intellectual disability	1	1	DCPS (2)	0.00704	1.00000	9.157e-3	1.046e-2	6
Anus neoplasms	Seizures	1	0	IFNB1 (1)	0.00704	1.00000	9.157e-3	1.046e-2	
developmental and epileptic encephalopathy, 77	Seizures	1	1	PIGQ (2)	0.00704	1.00000	9.157e-3	1.046e-2	223
developmental delay with variable intellectual disability and dysmorphic facies	Nonsyndromic intellectual disability	1	1	JARID2 (2)	0.00704	1.00000	9.157e-3	1.046e-2	
developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	Seizures	1	1	ARFGEF1 (2)	0.00704	1.00000	9.157e-3	1.046e-2	
Chylomicron retention disease	Ciliopathy	1	1	DCDC2 (3)	0.01370	0.50000	9.201e-3	1.051e-2	
Cerebral amyloid angiopathy	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	1	1	TRAPPC12 (4)	0.01370	0.50000	9.201e-3	1.051e-2	
Focal facial dermal dysplasia	Sjogren syndrome	1	1	TWIST2 (6)	0.01370	0.50000	9.201e-3	1.051e-2	
immunodeficiency 96	Urinary bladder neoplasms	1	1	LIG1 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
immunodeficiency, common variable, 5	Non-small-cell lung carcinoma	1	1	MS4A1 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Griscelli syndrome type 2	Urinary bladder neoplasms	1	1	RAB27A (2)	0.00699	1.00000	9.222e-3	1.052e-2	
hao-fountain syndrome	Urinary bladder neoplasms	1	1	USP7 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Non-small-cell lung carcinoma	Weiss-kruszka syndrome	1	1	ZNF462 (6)	0.00699	1.00000	9.222e-3	1.052e-2	
Urinary bladder neoplasms	X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	1	1	HMGB3 (4)	0.00699	1.00000	9.222e-3	1.052e-2	
Non-small-cell lung carcinoma	xeroderma pigmentosum group C	1	1	XPC (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Non-small-cell lung carcinoma	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	1	1	KDM1A (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Cholecystolithiasis	Papa syndrome	1	1	PSTPIP1 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Non-small-cell lung carcinoma	Prognathism	1	1	ADAMTS1 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Non-small-cell lung carcinoma	Riddle syndrome	1	1	RNF168 (7)	0.00699	1.00000	9.222e-3	1.052e-2	
Cholecystolithiasis	TRAF3 haploinsufficiency	1	1	TRAF3 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	Non-small-cell lung carcinoma	1	1	SHMT2 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Cholecystolithiasis	johanson-blizzard syndrome	1	1	UBR1 (2)	0.00699	1.00000	9.222e-3	1.052e-2	239
Maleylacetoacetate isomerase deficiency	Urinary bladder neoplasms	1	1	GSTZ1 (5)	0.00699	1.00000	9.222e-3	1.052e-2	
Cleft palate psychomotor retardation distinctive facial features	Non-small-cell lung carcinoma	1	1	KDM1A (3)	0.00699	1.00000	9.222e-3	1.052e-2	
Cholecystolithiasis	cone-rod dystrophy 20	1	1	POC1B (2)	0.00699	1.00000	9.222e-3	1.052e-2	239
Cholecystolithiasis	Corticosteroid-binding globulin deficiency	1	1	SERPINA6 (6)	0.00699	1.00000	9.222e-3	1.052e-2	
Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia	Cholecystolithiasis	1	1	PSTPIP1 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome	Urinary bladder neoplasms	1	1	BPTF (2)	0.00699	1.00000	9.222e-3	1.052e-2	
16p13.2 microdeletion syndrome	Urinary bladder neoplasms	1	1	USP7 (2)	0.00699	1.00000	9.222e-3	1.052e-2	
ADAR-related type 1 interferonopathy	Cholecystolithiasis	1	1	ADAR (2)	0.00699	1.00000	9.222e-3	1.052e-2	
Adenylosuccinate lyase deficiency	Cholecystolithiasis	1	1	ADSL (2)	0.00699	1.00000	9.222e-3	1.052e-2	239
Anus neoplasms	Urinary bladder neoplasms	1	0	IFNB1 (1)	0.00699	1.00000	9.222e-3	1.052e-2	4
15q11q13 microduplication syndrome	Developmental disability	1	1	UBE3A (2)	0.00694	1.00000	9.287e-3	1.058e-2	
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Developmental disability	1	1	ADNP (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Desanto-shinawi syndrome	Multiple myeloma	1	1	WAC (6)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental delay with hypotonia and behavioral abnormalities	Multiple myeloma	1	1	SRCAP (5)	0.00694	1.00000	9.287e-3	1.058e-2	
developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	Developmental disability	1	1	ARFGEF1 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	Diets-jongmans syndrome	1	1	KDM3B (4)	0.00694	1.00000	9.287e-3	1.058e-2	
basilicata-akhtar syndrome	Developmental disability	1	1	MSL3 (3)	0.00694	1.00000	9.287e-3	1.058e-2	6
Developmental disability	Intellectual developmental disorder short stature behavioral	1	1	IQSEC1 (4)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	intellectual developmental disorder, autosomal dominant 65	1	1	KDM4B (2)	0.00694	1.00000	9.287e-3	1.058e-2	
joubert syndrome 30	Multiple myeloma	1	1	ARMC9 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	1	1	POLR2A (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	1	1	NARS1 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	1	1	NARS1 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	1	1	MAPK8IP3 (2)	0.00694	1.00000	9.287e-3	1.058e-2	6
Developmental disability	Helsmoortel-van der aa syndrome	1	1	ADNP (2)	0.00694	1.00000	9.287e-3	1.058e-2	
floating-harbor syndrome	Multiple myeloma	1	1	SRCAP (2)	0.00694	1.00000	9.287e-3	1.058e-2	
fraser syndrome 3	Multiple myeloma	1	1	GRIP1 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	Hyperekplexia epilepsy syndrome	1	1	ARHGEF9 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
immunodeficiency-centromeric instability-facial anomalies syndrome 3	Multiple myeloma	1	1	CDCA7 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	Intellectual developmental disorder dysmorphic	1	1	POU3F3 (2)	0.00694	1.00000	9.287e-3	1.058e-2	6
Developmental disability	X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia	1	1	MAGT1 (5)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	Proximal renal tubular acidosis	1	1	SLC4A4 (5)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	PRPF8-related retinopathy	1	1	PRPF8 (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	spondyloepimetaphyseal dysplasia, genevieve type	1	1	NANS (3)	0.00694	1.00000	9.287e-3	1.058e-2	
Developmental disability	syndromic X-linked intellectual disability Snyder type	1	1	SMS (2)	0.00694	1.00000	9.287e-3	1.058e-2	
Periprosthetic osteolysis	Specific learning disability	1	1	OTUD7A (2)	0.04167	0.08333	9.315e-3	1.062e-2	
Cystine urolithiasis	Polycystic kidney disease	1	0	SLC7A9 (1)	0.01961	0.33333	9.323e-3	1.063e-2	
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts	Eating disorder	1	1	ATP8A2 (3)	0.01351	0.50000	9.330e-3	1.063e-2	
Bradyopsia	Leber congenital amaurosis	1	1	RGS9 (3)	0.01351	0.50000	9.330e-3	1.063e-2	
Eating disorder	Hyperprolinemia	1	1	ALDH4A1 (7)	0.01351	0.50000	9.330e-3	1.063e-2	
Autoimmune thyroid disease	immunodeficiency 64	1	1	RASGRP1 (2)	0.00690	1.00000	9.352e-3	1.065e-2	
Autoimmune thyroid disease	isolated sulfite oxidase deficiency	1	1	SUOX (2)	0.00690	1.00000	9.352e-3	1.065e-2	47
Autoimmune thyroid disease	primary angle-closure glaucoma	1	1	SPATA13 (2)	0.00690	1.00000	9.352e-3	1.065e-2	
Autoimmune thyroid disease	developmental and epileptic encephalopathy, 41	1	1	SLC1A2 (2)	0.00690	1.00000	9.352e-3	1.065e-2	
Autoimmune thyroid disease	Autoinflammation, immune dysregulation, and eosinophilia	1	1	JAK1 (5)	0.00690	1.00000	9.352e-3	1.065e-2	
Autoimmune thyroid disease	autosomal systemic lupus erythematosus type 16	1	1	DNASE1L3 (2)	0.00690	1.00000	9.352e-3	1.065e-2	
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	Mitochondrial dna depletion syndrome	1	1	SCO2 (4)	0.02941	0.20000	9.383e-3	1.069e-2	
autoimmune lymphoproliferative syndrome type 2A	Skin neoplasms	1	1	CASP10 (2)	0.00685	1.00000	9.417e-3	1.072e-2	
autoimmune polyendocrine syndrome type 1	Skin neoplasms	1	1	AIRE (2)	0.00685	1.00000	9.417e-3	1.072e-2	
histidinemia	Skin neoplasms	1	1	HAL (2)	0.00685	1.00000	9.417e-3	1.072e-2	16
Mesothelioma	non-severe combined immunodeficiency due to COPG1 deficiency	1	1	COPG1 (2)	0.00685	1.00000	9.417e-3	1.072e-2	
Skin neoplasms	sorsby fundus dystrophy	1	1	TIMP3 (2)	0.00685	1.00000	9.417e-3	1.072e-2	
Mesothelioma	tetraamelia syndrome 1	1	1	WNT3 (2)	0.00685	1.00000	9.417e-3	1.072e-2	
lessel-kreienkamp syndrome	Mesothelioma	1	1	AGO2 (2)	0.00685	1.00000	9.417e-3	1.072e-2	
Skin neoplasms	xeroderma pigmentosum group A	1	1	XPA (2)	0.00685	1.00000	9.417e-3	1.072e-2	
Allergic contact dermatitis	Cortisone reductase deficiency	1	1	HSD11B1 (5)	0.01333	0.50000	9.460e-3	1.077e-2	
Craniometadiaphyseal osteosclerosis with hip dysplasia	Osteoporosis	1	1	AXIN1 (4)	0.00680	1.00000	9.482e-3	1.078e-2	
Anxiety disorder	Chylothorax	1	1	PKD1L1 (2)	0.00680	1.00000	9.482e-3	1.078e-2	
Caudal duplication anomaly	Osteoporosis	1	1	AXIN1 (6)	0.00680	1.00000	9.482e-3	1.078e-2	
Cervicitis	Osteoporosis	1	0	IL32 (1)	0.00680	1.00000	9.482e-3	1.078e-2	
Cholesterol ester storage disease	Heart disease	1	1	LIPA (6)	0.00680	1.00000	9.482e-3	1.078e-2	
acute intermittent porphyria	Anxiety disorder	1	1	HMBS (2)	0.00680	1.00000	9.482e-3	1.078e-2	
Aica-ribosiduria	Osteoporosis	1	1	ATIC (3)	0.00680	1.00000	9.482e-3	1.078e-2	
Osteoporosis	Vitamin k deficiency	1	0	BGLAP (1)	0.00680	1.00000	9.482e-3	1.078e-2	
Heart disease	Wolman disease	1	1	LIPA (5)	0.00680	1.00000	9.482e-3	1.078e-2	
Osteoporosis	Zaki syndrome	1	1	WLS (3)	0.00680	1.00000	9.482e-3	1.078e-2	
Heart disease	neutrophil immunodeficiency syndrome	1	1	RAC2 (3)	0.00680	1.00000	9.482e-3	1.078e-2	
Osteomalacia	Osteoporosis	1	1	MEPE (3)	0.00680	1.00000	9.482e-3	1.078e-2	
Anxiety disorder	PAX5-related B lymphopenia and autism spectrum disorder	1	1	PAX5 (2)	0.00680	1.00000	9.482e-3	1.078e-2	
Hyaline fibromatosis	Osteoporosis	1	1	ANTXR2 (5)	0.00680	1.00000	9.482e-3	1.078e-2	
Heart disease	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	1	1	RAC2 (3)	0.00680	1.00000	9.482e-3	1.078e-2	
Heart disease	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	1	1	RAC2 (3)	0.00680	1.00000	9.482e-3	1.078e-2	
Osteoporosis	purine nucleoside phosphorylase deficiency	1	1	PNP (3)	0.00680	1.00000	9.482e-3	1.078e-2	
Anxiety disorder	Expressive language delay	1	0	KLF7 (1)	0.00680	1.00000	9.482e-3	1.078e-2	
Anxiety disorder	Intermittent porphyria	1	1	HMBS (2)	0.00680	1.00000	9.482e-3	1.078e-2	
Anxiety disorder	leukemia, acute lymphoblastic, susceptibility to, 3	1	1	PAX5 (2)	0.00680	1.00000	9.482e-3	1.078e-2	
Heart disease	lysosomal acid lipase deficiency	1	1	LIPA (2)	0.00680	1.00000	9.482e-3	1.078e-2	
Anxiety disorder	syndromic X-linked intellectual disability Snyder type	1	1	SMS (2)	0.00680	1.00000	9.482e-3	1.078e-2	
Osteoporosis	Tolchin-le caignec syndrome	1	1	SOX6 (4)	0.00680	1.00000	9.482e-3	1.078e-2	
Anxiety disorder	TRAF3 haploinsufficiency	1	1	TRAF3 (2)	0.00680	1.00000	9.482e-3	1.078e-2	
complex hereditary spastic paraplegia	Congenital anomalies of kidney and urinary tract	1	1	DSTYK (4)	0.03571	0.14286	9.510e-3	1.081e-2	
Biliary cholangitis	Childhood-onset sensorineural hearing impairment	1	1	PRORP (2)	0.00676	1.00000	9.547e-3	1.085e-2	
Biliary cholangitis	immunodeficiency 19	1	1	CD3D (2)	0.00676	1.00000	9.547e-3	1.085e-2	
Biliary cholangitis	Inner ear disease	1	0	CENPB (1)	0.00676	1.00000	9.547e-3	1.085e-2	288
Cone-rod dystrophy	Sveinsson chorioretinal atrophy	1	1	SEMA4A (6)	0.01316	0.50000	9.589e-3	1.090e-2	
Cone rod dystrophy and hearing loss	Cone-rod dystrophy	1	1	CEP78 (6)	0.01316	0.50000	9.589e-3	1.090e-2	
Choroidal melanoma	Spondyloepimetaphyseal dysplasia	1	1	DDR2 (5)	0.03226	0.16667	9.704e-3	1.103e-2	
15q11.2 microdeletion syndrome	Lissencephaly	1	1	TUBG1 (3)	0.01887	0.33333	9.711e-3	1.104e-2	
17q24.2 microdeletion syndrome	Contact dermatitis	1	1	PSMD12 (3)	0.01299	0.50000	9.718e-3	1.104e-2	
Contact dermatitis	Degenerative polyarthritis	1	1	TLR8 (2)	0.01299	0.50000	9.718e-3	1.104e-2	
Contact dermatitis	White spongue nevus	1	1	KRT4 (6)	0.01299	0.50000	9.718e-3	1.104e-2	
Contact dermatitis	Lewis lung carcinoma	1	1	TXNRD1 (2)	0.01299	0.50000	9.718e-3	1.104e-2	46
lessel-kreienkamp syndrome	Myeloid leukemia	1	1	AGO2 (2)	0.00662	1.00000	9.742e-3	1.106e-2	
leukoencephalopathy, diffuse hereditary, with spheroids 1	Myeloid leukemia	1	1	CSF1R (2)	0.00662	1.00000	9.742e-3	1.106e-2	
Myeloid leukemia	thrombocytopenia 2	1	1	ANKRD26 (2)	0.00662	1.00000	9.742e-3	1.106e-2	
hypotaurinemic retinal degeneration and cardiomyopathy	Myeloid leukemia	1	1	SLC6A6 (2)	0.00662	1.00000	9.742e-3	1.106e-2	89
immunodeficiency 64	Myeloid leukemia	1	1	RASGRP1 (2)	0.00662	1.00000	9.742e-3	1.106e-2	
Myeloid leukemia	Neutrophilic leukemia	1	0	CSF3R (1)	0.00662	1.00000	9.742e-3	1.106e-2	
Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Myeloid leukemia	1	1	CSF1R (4)	0.00662	1.00000	9.742e-3	1.106e-2	
Brain abnormalities neurodegeneration dysosteosclerosis	Myeloid leukemia	1	1	CSF1R (5)	0.00662	1.00000	9.742e-3	1.106e-2	
brain abnormalities, neurodegeneration, and dysosteosclerosis	Myeloid leukemia	1	1	CSF1R (2)	0.00662	1.00000	9.742e-3	1.106e-2	
Aplasia and myelodysplasia	Myeloid leukemia	1	1	SRP72 (4)	0.00662	1.00000	9.742e-3	1.106e-2	
Ataxia with intention tremor and hypotonia	Myeloid leukemia	1	1	POU4F1 (4)	0.00662	1.00000	9.742e-3	1.106e-2	
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations	Myeloid leukemia	1	1	TOP2B (2)	0.00662	1.00000	9.742e-3	1.106e-2	
agammaglobulinemia 10, autosomal dominant	Myeloid leukemia	1	1	SPI1 (2)	0.00662	1.00000	9.742e-3	1.106e-2	
cleidocranial dysplasia 2	Myeloid leukemia	1	1	CBFB (3)	0.00662	1.00000	9.742e-3	1.106e-2	
Colobomatous macrophthalmia microcornea syndrome	Neuroblastoma	1	1	CRIM1 (2)	0.00658	1.00000	9.806e-3	1.113e-2	4
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	Neuroblastoma	1	1	PHOX2B (3)	0.00658	1.00000	9.806e-3	1.113e-2	
BARD1-related cancer predisposition	Neuroblastoma	1	1	BARD1 (3)	0.00658	1.00000	9.806e-3	1.113e-2	
Neuroblastoma	spondyloepimetaphyseal dysplasia with joint laxity, type 3	1	1	EXOC6B (2)	0.00658	1.00000	9.806e-3	1.113e-2	
HAND2 related congenital heart defect	Neuroblastoma	1	1	HAND2 (2)	0.00658	1.00000	9.806e-3	1.113e-2	
Hereditary arterial and articular multiple calcification syndrome	Neuroblastoma	1	1	NT5E (4)	0.00658	1.00000	9.806e-3	1.113e-2	
Neuroblastoma	Parenti-mignot neurodevelopmental syndrome	1	1	CHD5 (5)	0.00658	1.00000	9.806e-3	1.113e-2	
Malonyl-coa decarboxylase deficiency	Neuroblastoma	1	1	MLYCD (2)	0.00658	1.00000	9.806e-3	1.113e-2	
Neuroblastoma	vertebral anomalies and variable endocrine and t-cell dysfunction	1	1	TBX2 (2)	0.00658	1.00000	9.806e-3	1.113e-2	
Mouth disease	Pernicious anemia	1	0	MARCHF1 (1)	0.03704	0.12500	9.831e-3	1.116e-2	
Complex regional pain syndrome	Secondary malignant neoplasm	1	0	KIF2B (1)	0.03704	0.12500	9.831e-3	1.116e-2	
Brody myopathy	Hypogonadism	1	1	ATP2A1 (7)	0.01282	0.50000	9.847e-3	1.117e-2	58
Autonomic nervous system disease	Inflammatory skin disease	1	0	ELMO1 (1)	0.01282	0.50000	9.847e-3	1.117e-2	14
Intellectual disability	Ververi-brady syndrome	1	1	QRICH1 (4)	0.01282	0.50000	9.847e-3	1.117e-2	
Intellectual developmental disorder dysmorphic microcephaly	Intellectual disability	1	1	COPB1 (2)	0.01282	0.50000	9.847e-3	1.117e-2	
Inflammatory skin disease	Neutral lipid storage disease with ichthyosis	1	1	ABHD5 (3)	0.01282	0.50000	9.847e-3	1.117e-2	
Liver neoplasms	ornithine aminotransferase deficiency	1	1	OAT (2)	0.00654	1.00000	9.871e-3	1.119e-2	
Liver neoplasms	xeroderma pigmentosum group A	1	1	XPA (2)	0.00654	1.00000	9.871e-3	1.119e-2	
Liver neoplasms	xeroderma pigmentosum group C	1	1	XPC (2)	0.00654	1.00000	9.871e-3	1.119e-2	
Liver neoplasms	Pulmonary agenesis	1	1	EFNB2 (2)	0.00654	1.00000	9.871e-3	1.119e-2	4
Liver neoplasms	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	1	1	EXOSC2 (5)	0.00654	1.00000	9.871e-3	1.119e-2	4
Genetic generalized epilepsy	Liver neoplasms	1	1	TNK2 (2)	0.00654	1.00000	9.871e-3	1.119e-2	
Liver neoplasms	Native american myopathy	1	1	STAC3 (3)	0.00654	1.00000	9.871e-3	1.119e-2	
autosomal recessive osteopetrosis 8	Liver neoplasms	1	1	SNX10 (2)	0.00654	1.00000	9.871e-3	1.119e-2	
Bailey-Bloch congenital myopathy	Liver neoplasms	1	1	STAC3 (2)	0.00654	1.00000	9.871e-3	1.119e-2	
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	Liver neoplasms	1	1	ASNS (2)	0.00654	1.00000	9.871e-3	1.119e-2	
Male infertility globozoospermia	Substance-induced psychosis	1	1	PICK1 (3)	0.03846	0.11111	9.895e-3	1.122e-2	
Cerebral atherosclerosis	Posterior cortical atrophy	1	0	TENT5A (1)	0.04000	0.08333	1.009e-2	1.144e-2	
Aicardi syndrome	Large artery stroke	1	1	TEAD1 (2)	0.01250	0.50000	1.011e-2	1.146e-2	
Bradyopsia	Large artery stroke	1	1	RGS9 (4)	0.01250	0.50000	1.011e-2	1.146e-2	
Large artery stroke	Sveinsson chorioretinal atrophy	1	1	TEAD1 (4)	0.01250	0.50000	1.011e-2	1.146e-2	
Large artery stroke	propionic acidemia	1	1	PCCA (2)	0.01250	0.50000	1.011e-2	1.146e-2	
Orofacial cleft	phytanoyl-CoA hydroxylase deficiency	1	1	PHYH (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	Rickets, x-linked hypophosphatemic	1	1	PHEX (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Orofacial cleft	Vertebral hypersegmentation with orofacial anomalies	1	1	GDF11 (3)	0.00637	1.00000	1.013e-2	1.147e-2	136
Craniofacial abnormalities	X-linked dominant hypophosphatemic rickets	1	1	PHEX (4)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	X-linked hypophosphatemia	1	1	PHEX (3)	0.00637	1.00000	1.013e-2	1.147e-2	
oligodontia-cancer predisposition syndrome	Orofacial cleft	1	1	AXIN2 (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	Pelviscapular dysplasia	1	1	TBX15 (5)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	ehlers-danlos syndrome, musculocontractural type 1	1	1	CHST14 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	ehlers-danlos syndrome, spondylodysplastic type, 1	1	1	B4GALT7 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	FADD-related immunodeficiency	1	1	FADD (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	1	1	ALX1 (6)	0.00637	1.00000	1.013e-2	1.147e-2	
Muggenthaler-chowdhury-chioza syndrome	Orofacial cleft	1	1	HYAL2 (4)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	Nasodigitoacoustic syndrome	1	1	GPC4 (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	schneckenbecken dysplasia	1	1	SLC35D1 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofacial abnormalities	spondyloepiphyseal dysplasia, kondo-fu type	1	1	MBTPS1 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Orofacial cleft	teebi hypertelorism syndrome 2	1	1	CDH11 (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Bosley-salih-alorainy syndrome	Craniofacial abnormalities	1	1	HOXA1 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Branchioskeletogenital syndrome	Orofacial cleft	1	1	CDH11 (2)	0.00637	1.00000	1.013e-2	1.147e-2	
ARHGAP29-related non-syndromic orofacial cleft	Orofacial cleft	1	1	ARHGAP29 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	Orofacial cleft	1	1	PPP1R13L (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Athabaskan brainstem dysgenesis	Craniofacial abnormalities	1	1	HOXA1 (4)	0.00637	1.00000	1.013e-2	1.147e-2	
bamforth-lazarus syndrome	Orofacial cleft	1	1	FOXE1 (2)	0.00637	1.00000	1.013e-2	1.147e-2	
basilicata-akhtar syndrome	Craniofacial abnormalities	1	1	MSL3 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome	Orofacial cleft	1	1	HYAL2 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Congenital corneal opacity	Orofacial cleft	1	1	ZFHX4 (2)	0.00637	1.00000	1.013e-2	1.147e-2	
15q11q13 microduplication syndrome	Craniofacial abnormalities	1	1	UBE3A (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Congenital hereditary facial paralysis with variable hearing loss syndrome	Craniofacial abnormalities	1	1	HOXB1 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Congenital ichthyosis with hypotrichosis syndrome	Orofacial cleft	1	1	ST14 (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Congenital microtia	Craniofacial abnormalities	1	1	PRKRA (2)	0.00637	1.00000	1.013e-2	1.147e-2	
Cousin syndrome	Craniofacial abnormalities	1	1	TBX15 (3)	0.00637	1.00000	1.013e-2	1.147e-2	
Craniofaciocardiohepatic syndrome	Orofacial cleft	1	1	AMOTL1 (4)	0.00637	1.00000	1.013e-2	1.147e-2	
Coproporphyria	Liver disease	1	0	CPOX (1)	0.00633	1.00000	1.020e-2	1.153e-2	
CPOX-related hereditary coproporphyria	Liver disease	1	1	CPOX (2)	0.00633	1.00000	1.020e-2	1.153e-2	
Abetalipoproteinemia	Liver disease	1	1	MTTP (2)	0.00633	1.00000	1.020e-2	1.153e-2	
agammaglobulinemia 6, autosomal recessive	Liver disease	1	1	CD79B (3)	0.00633	1.00000	1.020e-2	1.153e-2	
Congenital alpha-fetoprotein deficiency	Liver disease	1	1	AFP (3)	0.00633	1.00000	1.020e-2	1.153e-2	
Liver disease	severe combined immunodeficiency due to LAT deficiency	1	1	LAT (3)	0.00633	1.00000	1.020e-2	1.153e-2	
Esophageal cancer	thrombotic disease	1	1	MAST2 (2)	0.00633	1.00000	1.020e-2	1.153e-2	72
Liver disease	tooth agenesis, selective, 9	1	1	GREM2 (2)	0.00633	1.00000	1.020e-2	1.153e-2	
Esophageal cancer	friedreich ataxia	1	1	FXN (2)	0.00633	1.00000	1.020e-2	1.153e-2	72
Esophageal cancer	Vici syndrome	1	1	EPG5 (5)	0.00633	1.00000	1.020e-2	1.153e-2	
Liver disease	polycystic liver disease 1	1	1	PRKCSH (2)	0.00633	1.00000	1.020e-2	1.153e-2	
Esophageal cancer	glycosylphosphatidylinositol biosynthesis defect 21	1	1	PIGU (2)	0.00633	1.00000	1.020e-2	1.153e-2	
Hereditary coproporphyria	Liver disease	1	1	CPOX (5)	0.00633	1.00000	1.020e-2	1.153e-2	
hereditary spastic paraplegia 62	Liver disease	1	1	ERLIN1 (2)	0.00633	1.00000	1.020e-2	1.153e-2	
Hyperopia	Trichotillomania	1	1	SLITRK1 (5)	0.01235	0.50000	1.024e-2	1.158e-2	262
Auditory neuropathy with optic atrophy	Hyperopia	1	1	GRIN2C (2)	0.01235	0.50000	1.024e-2	1.158e-2	
2-methylbutyryl-coa dehydrogenase deficiency	Periodontitis	1	1	ACADSB (5)	0.00629	1.00000	1.026e-2	1.160e-2	
intellectual developmental disorder, autosomal dominant 65	Periodontitis	1	1	KDM4B (2)	0.00629	1.00000	1.026e-2	1.160e-2	
Periodontitis	Shukla-vernon syndrome	1	1	BCORL1 (5)	0.00629	1.00000	1.026e-2	1.160e-2	
Papillon-lefevre syndrome	Periodontitis	1	1	CTSC (7)	0.00629	1.00000	1.026e-2	1.160e-2	
Periodontitis	platelet-type bleeding disorder 15	1	1	ACTN1 (2)	0.00629	1.00000	1.026e-2	1.160e-2	
Periodontitis	pycnodysostosis	1	1	CTSK (2)	0.00629	1.00000	1.026e-2	1.160e-2	
hypokalemic alkalosis, familial, with specific renal tubulopathy	Periodontitis	1	1	KCNJ16 (2)	0.00629	1.00000	1.026e-2	1.160e-2	
hypomyelinating leukodystrophy 5	Periodontitis	1	1	HYCC1 (2)	0.00629	1.00000	1.026e-2	1.160e-2	
Appendiceal disorder	Central nervous system cancer	2	0	FFAR2 (1), KRTDAP (1)	0.00303	0.50000	1.027e-2	1.161e-2	
autosomal recessive cerebellar ataxia	Upper aerodigestive tract neoplasm	1	1	CWF19L1 (2)	0.00617	1.00000	1.046e-2	1.182e-2	
hypercholesterolemia, familial, 4	Upper aerodigestive tract neoplasm	1	1	LDLRAP1 (2)	0.00617	1.00000	1.046e-2	1.182e-2	
Niemann-Pick disease, type C2	Upper aerodigestive tract neoplasm	1	1	NPC2 (2)	0.00617	1.00000	1.046e-2	1.182e-2	
Early onset epilepsy with developmental delay	Psoriasis vulgaris	1	1	SETD1A (5)	0.01754	0.33333	1.048e-2	1.185e-2	
Kidney cancer	Vulto-van silfhout-de vries syndrome	1	1	DLG4 (2)	0.01205	0.50000	1.049e-2	1.186e-2	
Atrial flutter	Wiskott-aldrich syndrome	1	1	WIPF1 (6)	0.01205	0.50000	1.049e-2	1.186e-2	
Aortic valve disease	Carey-fineman-ziter syndrome	1	1	MYMK (5)	0.01205	0.50000	1.049e-2	1.186e-2	
Cerebellar, ocular, craniofacial, and genital syndrome	Obstructive sleep apnea syndrome	1	1	NBEA (2)	0.01205	0.50000	1.049e-2	1.186e-2	
cardiomyopathy, dilated, 2e	Sarcoidosis	1	1	JPH2 (2)	0.00610	1.00000	1.059e-2	1.195e-2	
combined immunodeficiency due to ZAP70 deficiency	Sarcoidosis	1	1	ZAP70 (2)	0.00610	1.00000	1.059e-2	1.195e-2	
BBS12-related ciliopathy	Sarcoidosis	1	1	BBS12 (2)	0.00610	1.00000	1.059e-2	1.195e-2	
amyotrophic lateral sclerosis type 12	Sarcoidosis	1	1	OPTN (2)	0.00610	1.00000	1.059e-2	1.195e-2	
amyotrophic lateral sclerosis type 23	Sarcoidosis	1	1	ANXA11 (4)	0.00610	1.00000	1.059e-2	1.195e-2	
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	Sarcoidosis	1	1	VARS1 (2)	0.00610	1.00000	1.059e-2	1.195e-2	
neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Sarcoidosis	1	1	TNR (2)	0.00610	1.00000	1.059e-2	1.195e-2	
glaucoma, normal tension, susceptibility to	Sarcoidosis	1	1	OPTN (2)	0.00610	1.00000	1.059e-2	1.195e-2	
holocarboxylase synthetase deficiency	Sarcoidosis	1	1	HLCS (2)	0.00610	1.00000	1.059e-2	1.195e-2	
immunodeficiency, common variable, 6	Sarcoidosis	1	1	CD81 (2)	0.00610	1.00000	1.059e-2	1.195e-2	47
primary ciliary dyskinesia 19	Sarcoidosis	1	1	DNAAF11 (2)	0.00610	1.00000	1.059e-2	1.195e-2	
Hemifacial microsomia	Tooth agenesis	1	1	FOXI3 (2)	0.02222	0.25000	1.061e-2	1.198e-2	
Chromosome 16p11.2 deletion syndrome	Idiopathic pulmonary fibrosis	1	1	SFTPA1 (2)	0.01190	0.50000	1.062e-2	1.199e-2	
Deafness-infertility syndrome	nonsyndromic genetic hearing loss	1	1	STRC (4)	0.01190	0.50000	1.062e-2	1.199e-2	
Deafness, sensorineural, and male infertility	nonsyndromic genetic hearing loss	1	1	STRC (3)	0.01190	0.50000	1.062e-2	1.199e-2	
bone marrow failure syndrome 4	Diabetic retinopathy	1	1	MYSM1 (3)	0.00606	1.00000	1.065e-2	1.202e-2	
amyotrophic lateral sclerosis type 9	Diabetic retinopathy	1	1	ANG (2)	0.00606	1.00000	1.065e-2	1.202e-2	
Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome	Diabetic retinopathy	1	1	MYSM1 (3)	0.00606	1.00000	1.065e-2	1.202e-2	
Hyperpituitarism	Mosaic variegated aneuploidy	1	1	MAD1L1 (5)	0.03846	0.09091	1.067e-2	1.204e-2	
Bronchopneumonia	Peripheral vascular disease	1	0	SERTM1 (1)	0.02632	0.20000	1.067e-2	1.205e-2	
Cirrhosis	Necrosis	1	1	KRT18 (4)	0.01724	0.33333	1.068e-2	1.205e-2	63
Carcinoma	Chromosome 5q deletion syndrome	1	1	RPS14 (2)	0.00602	1.00000	1.072e-2	1.209e-2	
Carcinoma	MERTK-related retinopathy	1	1	MERTK (2)	0.00602	1.00000	1.072e-2	1.209e-2	
Carcinoma	Pemphigus foliaceus	1	1	RAN (2)	0.00602	1.00000	1.072e-2	1.209e-2	
Carcinoma	Wernicke encephalopathy	1	1	TKT (2)	0.00602	1.00000	1.072e-2	1.209e-2	
Carcinoma	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	1	1	CDC42 (2)	0.00602	1.00000	1.072e-2	1.209e-2	
Carcinoma	Hyperprolactinemia	1	1	PRLR (5)	0.00602	1.00000	1.072e-2	1.209e-2	
Carcinoma	inherited glutathione synthetase deficiency	1	1	GSS (2)	0.00602	1.00000	1.072e-2	1.209e-2	
Nephrotic syndrome	Woolly hair-palmoplantar keratoderma syndrome	1	1	KANK2 (4)	0.00599	1.00000	1.078e-2	1.215e-2	20
membranoproliferative glomerulonephritis	Nephrotic syndrome	1	1	DGKE (4)	0.00599	1.00000	1.078e-2	1.215e-2	
Mineralocortocoid excess	Nephrotic syndrome	1	1	HSD11B2 (7)	0.00599	1.00000	1.078e-2	1.215e-2	
Nephrotic syndrome	nephrotic syndrome, type 13	1	1	NUP205 (6)	0.00599	1.00000	1.078e-2	1.215e-2	
Nephrotic syndrome	nephrotic syndrome, type 18	1	1	NUP133 (5)	0.00599	1.00000	1.078e-2	1.215e-2	20
Nephrotic syndrome	nephrotic syndrome, type 19	1	1	NUP160 (5)	0.00599	1.00000	1.078e-2	1.215e-2	20
Nephrotic syndrome	nephrotic syndrome, type 20	1	1	TBC1D8B (5)	0.00599	1.00000	1.078e-2	1.215e-2	20
Nephrotic syndrome	nephrotic syndrome, type 21	1	1	AVIL (5)	0.00599	1.00000	1.078e-2	1.215e-2	20
Nephrotic syndrome	nephrotic syndrome, type 8	1	1	ARHGDIA (6)	0.00599	1.00000	1.078e-2	1.215e-2	20
ehlers-danlos syndrome, musculocontractural type 2	Nephrotic syndrome	1	1	DSE (2)	0.00599	1.00000	1.078e-2	1.215e-2	
Nephrotic syndrome	Ocular cystinosis	1	1	CTNS (4)	0.00599	1.00000	1.078e-2	1.215e-2	
COG1-congenital disorder of glycosylation	Nephrotic syndrome	1	1	COG1 (2)	0.00599	1.00000	1.078e-2	1.215e-2	
apparent mineralocorticoid excess	Nephrotic syndrome	1	1	HSD11B2 (3)	0.00599	1.00000	1.078e-2	1.215e-2	
atypical hemolytic-uremic syndrome with DGKE deficiency	Nephrotic syndrome	1	1	DGKE (4)	0.00599	1.00000	1.078e-2	1.215e-2	
Aica-ribosiduria	Nephrotic syndrome	1	1	ATIC (2)	0.00599	1.00000	1.078e-2	1.215e-2	
Alanine-glyoxylate aminotransferase deficiency	Nephrotic syndrome	1	1	AGXT (3)	0.00599	1.00000	1.078e-2	1.215e-2	
Bone neoplasms	Machado-joseph disease	1	0	THSD7B (1)	0.03448	0.12500	1.086e-2	1.224e-2	
complex hereditary spastic paraplegia	Polyneuropathy	1	1	GBA2 (2)	0.03226	0.14286	1.086e-2	1.224e-2	
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Cardiomegaly	1	1	RBCK1 (3)	0.01163	0.50000	1.088e-2	1.226e-2	
methylmalonic aciduria and homocystinuria	Skin cancer	1	1	ZNF143 (2)	0.01163	0.50000	1.088e-2	1.226e-2	
Neuroocular syndrome	Skin cancer	1	1	PRR12 (5)	0.01163	0.50000	1.088e-2	1.226e-2	
Non-melanoma skin carcinoma	Thrombocytopenia with anemia and myelofibrosis	1	1	MPIG6B (6)	0.00588	1.00000	1.098e-2	1.237e-2	
Non-melanoma skin carcinoma	thrombocytopenia, anemia, and myelofibrosis	1	1	MPIG6B (2)	0.00588	1.00000	1.098e-2	1.237e-2	
hyper-IgE recurrent infection syndrome 3, autosomal recessive	Non-melanoma skin carcinoma	1	1	ZNF341 (2)	0.00588	1.00000	1.098e-2	1.237e-2	16
Non-melanoma skin carcinoma	pycnodysostosis	1	1	CTSK (2)	0.00588	1.00000	1.098e-2	1.237e-2	
Craniofaciocardiohepatic syndrome	Non-melanoma skin carcinoma	1	1	AMOTL1 (2)	0.00588	1.00000	1.098e-2	1.237e-2	
Combined malonic and methylmalonic acidemia	Non-melanoma skin carcinoma	1	1	ACSF3 (4)	0.00588	1.00000	1.098e-2	1.237e-2	
Combined malonic and methylmalonic aciduria	Non-melanoma skin carcinoma	1	1	ACSF3 (4)	0.00588	1.00000	1.098e-2	1.237e-2	
Congenital corneal opacity	Non-melanoma skin carcinoma	1	1	ZFHX4 (2)	0.00588	1.00000	1.098e-2	1.237e-2	
Acromelic frontonasal dysostosis	Non-melanoma skin carcinoma	1	1	ZSWIM6 (2)	0.00588	1.00000	1.098e-2	1.237e-2	16
Iminoglycinuria	Triple negative breast cancer	1	1	SLC6A18 (2)	0.02564	0.20000	1.099e-2	1.238e-2	
Ischemic heart disease	neurodevelopmental disorder with microcephaly, ataxia, and seizures	1	1	SARS1 (2)	0.00585	1.00000	1.104e-2	1.243e-2	
Ischemic heart disease	Prader-willi-like syndrome	1	1	CPE (2)	0.00585	1.00000	1.104e-2	1.243e-2	
Ischemic heart disease	Neurodegeneration peripheral neuropathy syndrome	1	1	CLCN6 (2)	0.00585	1.00000	1.104e-2	1.243e-2	
Ischemic heart disease	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	1	1	CLCN6 (2)	0.00585	1.00000	1.104e-2	1.243e-2	
Aplasia cutis-enamel dysplasia syndrome	Oligoarticular juvenile idiopathic arthritis	1	1	FOSL2 (4)	0.00585	1.00000	1.104e-2	1.243e-2	
cardiomyopathy, dilated, 2k	Oligoarticular juvenile idiopathic arthritis	1	1	MYZAP (2)	0.00585	1.00000	1.104e-2	1.243e-2	320
Cytosolic acetoacetyl-coa thiolase deficiency	Ischemic heart disease	1	1	ACAT2 (2)	0.00585	1.00000	1.104e-2	1.243e-2	
Claudication	Ischemic heart disease	1	0	AGXT2 (1)	0.00585	1.00000	1.104e-2	1.243e-2	
COG6-congenital disorder of glycosylation	Oligoarticular juvenile idiopathic arthritis	1	1	COG6 (2)	0.00585	1.00000	1.104e-2	1.243e-2	320
combined immunodeficiency due to moesin deficiency	Oligoarticular juvenile idiopathic arthritis	1	1	MSN (2)	0.00585	1.00000	1.104e-2	1.243e-2	
Beta-aminoisobutyric aciduria	Ischemic heart disease	1	1	AGXT2 (3)	0.00585	1.00000	1.104e-2	1.243e-2	
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome	Oligoarticular juvenile idiopathic arthritis	1	1	FOSL2 (2)	0.00585	1.00000	1.104e-2	1.243e-2	
Focal glomerulosclerosis	Navajo neurohepatopathy	1	1	MPV17 (3)	0.01667	0.33333	1.106e-2	1.246e-2	
Neutropenia	Synovial sarcoma	1	1	SS18 (2)	0.01667	0.33333	1.106e-2	1.246e-2	
MHC class II deficiency	Nasopharyngeal neoplasms	1	1	CIITA (2)	0.02128	0.25000	1.112e-2	1.252e-2	
Amelocerebrohypohidrotic syndrome	Fatty liver, alcoholic	1	1	SLC13A5 (3)	0.01136	0.50000	1.114e-2	1.254e-2	
Congenital heart defect, intellectual disability, facial dysmorphism syndrome	Congenital heart disease	1	1	CDK13 (5)	0.00578	1.00000	1.117e-2	1.256e-2	
Chromosome 15q deletion syndrome	Congenital heart disease	1	1	MCTP2 (3)	0.00578	1.00000	1.117e-2	1.256e-2	41
Chromosome 2p16.1-p15 deletion syndrome	Congenital heart disease	1	1	USP34 (3)	0.00578	1.00000	1.117e-2	1.256e-2	
autosomal recessive nonsyndromic hearing loss 102	Deafness	1	1	EPS8 (4)	0.00578	1.00000	1.117e-2	1.256e-2	31
autosomal recessive nonsyndromic hearing loss 63	Deafness	1	1	LRTOMT (4)	0.00578	1.00000	1.117e-2	1.256e-2	31
Bartter disease type 4A	Deafness	1	1	BSND (2)	0.00578	1.00000	1.117e-2	1.256e-2	
Cockayne syndrome type 1	Deafness	1	1	ERCC8 (2)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	Sensorineural deafness with renal dysfunction	1	0	BSND (1)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	Sensorineural hearing loss-spastic quadriplegia–intellectual disability	1	1	AFG2B (3)	0.00578	1.00000	1.117e-2	1.256e-2	
Congenital heart disease	inflammatory skin and bowel disease, neonatal, 1	1	1	ADAM17 (3)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	Worster drought syndrome	1	1	TMTC4 (2)	0.00578	1.00000	1.117e-2	1.256e-2	31
Congenital heart disease	El-hayek-chahrour neurodevelopmental syndrome	1	1	KDM5A (5)	0.00578	1.00000	1.117e-2	1.256e-2	41
Congenital heart disease	fibrodysplasia ossificans progressiva	1	1	ACVR1 (3)	0.00578	1.00000	1.117e-2	1.256e-2	
Congenital heart disease	Pulmonary agenesis	1	1	EFNB2 (2)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	reticular dysgenesis	1	1	AK2 (2)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	frontotemporal dementia and/or amyotrophic lateral sclerosis 5	1	1	CCNF (2)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	hearing loss, autosomal recessive 115	1	1	SPNS2 (3)	0.00578	1.00000	1.117e-2	1.256e-2	31
Deafness	hearing loss, autosomal recessive 116	1	1	CLDN9 (3)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	hearing loss, autosomal recessive 119	1	1	AFG2B (3)	0.00578	1.00000	1.117e-2	1.256e-2	
Deafness	hearing loss, autosomal recessive 120	1	1	MINAR2 (3)	0.00578	1.00000	1.117e-2	1.256e-2	31
Congenital heart disease	NR2F2 related multiple congenital anomalies/dysmorphic syndrome	1	1	NR2F2 (5)	0.00578	1.00000	1.117e-2	1.256e-2	
Brain aneurysm	Trimethylaminuria	1	1	FMO4 (2)	0.01124	0.50000	1.127e-2	1.267e-2	272
Endometrial cancer	familial adenomatous polyposis 4	1	1	MSH3 (3)	0.00571	1.00000	1.130e-2	1.270e-2	
Endometrial cancer	friedreich ataxia	1	1	FXN (2)	0.00571	1.00000	1.130e-2	1.270e-2	72
Heterotaxy syndrome	Ileocolitis	1	1	CFAP45 (5)	0.03333	0.12500	1.138e-2	1.279e-2	54
Hypochromic sideroblastic anemia	Skin disease	1	1	STEAP3 (6)	0.00562	1.00000	1.149e-2	1.292e-2	
intellectual developmental disorder with autistic features and language delay, with or without seizures	Peripheral arterial disease	1	1	TANC2 (2)	0.00562	1.00000	1.149e-2	1.292e-2	
Juvenile absence epilepsy	Peripheral arterial disease	1	1	EFHC1 (2)	0.00562	1.00000	1.149e-2	1.292e-2	
Kindler epidermolysis bullosa	Skin disease	1	1	FERMT1 (2)	0.00562	1.00000	1.149e-2	1.292e-2	
kindler syndrome	Skin disease	1	1	FERMT1 (2)	0.00562	1.00000	1.149e-2	1.292e-2	
leukodystrophy, hypomyelinating, 18	Skin disease	1	1	DEGS1 (2)	0.00562	1.00000	1.149e-2	1.292e-2	
optic atrophy 13 with retinal and foveal abnormalities	Skin disease	1	1	SSBP1 (3)	0.00562	1.00000	1.149e-2	1.292e-2	16
Peripheral arterial disease	perrault syndrome 3	1	1	CLPP (2)	0.00562	1.00000	1.149e-2	1.292e-2	
COG6-congenital disorder of glycosylation	Peripheral arterial disease	1	1	COG6 (2)	0.00562	1.00000	1.149e-2	1.292e-2	
Congenital cerebellar hypoplasia	Peripheral arterial disease	1	1	OXR1 (3)	0.00562	1.00000	1.149e-2	1.292e-2	
agammaglobulinemia 2, autosomal recessive	Peripheral arterial disease	1	1	IGLL1 (2)	0.00562	1.00000	1.149e-2	1.292e-2	
Hemorrhoid	Myoadenylate deaminase deficiency	1	0	AMPD3 (1)	0.01099	0.50000	1.153e-2	1.295e-2	
Congestive heart failure	phosphoenolpyruvate carboxykinase deficiency, cytosolic	1	1	PCK1 (2)	0.00556	1.00000	1.162e-2	1.305e-2	34
Congestive heart failure	short chain acyl-coa dehydrogenase deficiency	1	1	ACADS (2)	0.00556	1.00000	1.162e-2	1.305e-2	
Congestive heart failure	Hmg-coa synthase deficiency	1	1	HMGCS2 (3)	0.00556	1.00000	1.162e-2	1.305e-2	
Congestive heart failure	hyperphosphatasia with intellectual disability syndrome 4	1	1	PGAP3 (2)	0.00556	1.00000	1.162e-2	1.305e-2	
Congestive heart failure	Yoon-bellen neurodevelopmental syndrome	1	1	OGDHL (3)	0.00556	1.00000	1.162e-2	1.305e-2	34
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	Congestive heart failure	1	1	HMGCS2 (2)	0.00556	1.00000	1.162e-2	1.305e-2	
Acetyl-coa carboxylase deficiency	Congestive heart failure	1	1	ACACA (2)	0.00556	1.00000	1.162e-2	1.305e-2	
Claudication	Congestive heart failure	1	0	AGXT2 (1)	0.00556	1.00000	1.162e-2	1.305e-2	
Charcot-Marie-Tooth disease type 4B2	Congestive heart failure	1	1	SBF2 (2)	0.00556	1.00000	1.162e-2	1.305e-2	
Beta-aminoisobutyric aciduria	Congestive heart failure	1	1	AGXT2 (3)	0.00556	1.00000	1.162e-2	1.305e-2	
Multiple system atrophy	Renal pelvis neoplasms	1	0	MDGA2 (1)	0.02778	0.16667	1.163e-2	1.306e-2	
Microphthalmos	Peripheral vertigo	1	1	ZNF91 (2)	0.02439	0.20000	1.164e-2	1.307e-2	
Central vertigo	Microphthalmos	1	1	ZNF91 (2)	0.02439	0.20000	1.164e-2	1.307e-2	
Gestational diabetes	Ochoa syndrome	1	1	HPSE2 (2)	0.01087	0.50000	1.166e-2	1.309e-2	
Gestational diabetes	Urofacial syndrome	1	1	HPSE2 (5)	0.01087	0.50000	1.166e-2	1.309e-2	
Gestational diabetes	Intellectual developmental disorder speech peripheral neuropathy	1	1	NEMF (5)	0.01087	0.50000	1.166e-2	1.309e-2	
joubert syndrome 21	Optic atrophy	1	1	CSPP1 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
LCA5-related retinopathy	Optic atrophy	1	1	LCA5 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
leber-like hereditary optic neuropathy, autosomal recessive 1	Optic atrophy	1	1	DNAJC30 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	TSPAN12-related exudative vitreoretinopathy	1	1	TSPAN12 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	Usher syndrome type 3	1	1	CLRN1 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	optic atrophy 10 with or without ataxia, intellectual disability, and seizures	1	1	RTN4IP1 (7)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	optic atrophy 11	1	1	YME1L1 (7)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	optic atrophy 15	1	1	MCAT (6)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	optic atrophy 3	1	1	OPA3 (7)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	optic atrophy 9	1	1	ACO2 (7)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	ornithine aminotransferase deficiency	1	1	OAT (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	PCARE-related retinopathy	1	1	PCARE (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	PDE6C-related retinopathy	1	1	PDE6C (2)	0.00549	1.00000	1.175e-2	1.317e-2	
enhanced s-cone syndrome	Optic atrophy	1	1	NR2E3 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Familial danish dementia	Optic atrophy	1	1	ITM2B (2)	0.00549	1.00000	1.175e-2	1.317e-2	
FDXR-related optic atrophy mitochondrial dysfunction syndrome	Optic atrophy	1	1	FDXR (2)	0.00549	1.00000	1.175e-2	1.317e-2	
microcephaly and chorioretinopathy 1	Optic atrophy	1	1	TUBGCP6 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	Sideroblastic anemia with b-cell immunodeficiency	1	1	TRNT1 (5)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	PHARC syndrome	1	1	ABHD12 (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	phytanoyl-CoA hydroxylase deficiency	1	1	PHYH (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	Progressive myoclonic epilepsy with renal failure	1	1	SEMA6B (4)	0.00549	1.00000	1.175e-2	1.317e-2	
Optic atrophy	RAB28-related retinopathy	1	1	RAB28 (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	retinitis pigmentosa 65	1	1	CDHR1 (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	retinitis pigmentosa 86	1	1	KIAA1549 (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	retinitis pigmentosa 9	1	1	RP9 (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Optic atrophy	Retinitis pigmentosa and erythrocytic microcytosis	1	1	TRNT1 (5)	0.00549	1.00000	1.175e-2	1.317e-2	
Goldmann-favre syndrome	Optic atrophy	1	1	NR2E3 (3)	0.00549	1.00000	1.175e-2	1.317e-2	
GPR179-related retinopathy	Optic atrophy	1	1	GPR179 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
GRM6-related retinopathy	Optic atrophy	1	1	GRM6 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
IDH3B-related retinopathy	Optic atrophy	1	1	IDH3B (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
Childhood-onset dystonia	Optic atrophy	1	1	MECR (4)	0.00549	1.00000	1.175e-2	1.317e-2	
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	Optic atrophy	1	1	MECR (5)	0.00549	1.00000	1.175e-2	1.317e-2	
CNGA1-related retinopathy	Optic atrophy	1	1	CNGA1 (2)	0.00549	1.00000	1.175e-2	1.317e-2	7
CNGB1-related retinopathy	Optic atrophy	1	1	CNGB1 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
cone-rod dystrophy and hearing loss 2	Optic atrophy	1	1	CEP250 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Abri amyloidosis	Optic atrophy	1	1	ITM2B (2)	0.00549	1.00000	1.175e-2	1.317e-2	
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Optic atrophy	1	1	TRNT1 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Costeff optic atrophy syndrome	Optic atrophy	1	1	OPA3 (7)	0.00549	1.00000	1.175e-2	1.317e-2	
Bosch-boonstra-schaaf optic atrophy syndrome	Optic atrophy	1	1	NR2F1 (6)	0.00549	1.00000	1.175e-2	1.317e-2	
CACNA2D4-related retinopathy	Optic atrophy	1	1	CACNA2D4 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
developmental and epileptic encephalopathy, 77	Optic atrophy	1	1	PIGQ (2)	0.00549	1.00000	1.175e-2	1.317e-2	
dilated cardiomyopathy 2B	Optic atrophy	1	1	GATAD1 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
autosomal recessive optic atrophy, OPA7 type	Optic atrophy	1	1	TMEM126A (8)	0.00549	1.00000	1.175e-2	1.317e-2	7
BBS7-related ciliopathy	Optic atrophy	1	1	BBS7 (2)	0.00549	1.00000	1.175e-2	1.317e-2	
Intestinal vascular insufficiency	Small cell lung carcinoma	1	0	NEDD9 (1)	0.01075	0.50000	1.179e-2	1.320e-2	
Huntington disease	Salt-sensitive hypertension	1	1	ADD1 (2)	0.01563	0.33333	1.184e-2	1.326e-2	
Pituitary stalk interruption syndrome	Renal pelvis neoplasms	1	1	FANCA (2)	0.02703	0.16667	1.202e-2	1.346e-2	
Amelocerebrohypohidrotic syndrome	Fatty liver	1	1	SLC13A5 (4)	0.01053	0.50000	1.204e-2	1.349e-2	
Corticobasal degeneration	Progressive supranuclear palsy	1	1	MOBP (2)	0.02941	0.14286	1.221e-2	1.367e-2	
Male infertility round headed spermatozoa	Teratozoospermia	1	0	SPATA16 (1)	0.02941	0.14286	1.221e-2	1.367e-2	
Brugada syndrome	Lipoyltransferase deficiency	1	1	LIPT2 (2)	0.01515	0.33333	1.222e-2	1.369e-2	
3-methylcrotonyl-coa carboxylase deficiency	Lewy body disease	1	1	MCCC1 (5)	0.01031	0.50000	1.230e-2	1.377e-2	
Benign familial pemphigus	Willis-ekbom disease	1	1	ATP2C1 (2)	0.00521	1.00000	1.240e-2	1.388e-2	
intellectual developmental disorder, autosomal dominant 65	Willis-ekbom disease	1	1	KDM4B (2)	0.00521	1.00000	1.240e-2	1.388e-2	
leukodystrophy, hypomyelinating, 22	Willis-ekbom disease	1	1	CLDN11 (2)	0.00521	1.00000	1.240e-2	1.388e-2	
intellectual developmental disorder 59	Willis-ekbom disease	1	1	CAMK2G (2)	0.00521	1.00000	1.240e-2	1.388e-2	
Trident hand	Willis-ekbom disease	1	1	NPR2 (2)	0.00521	1.00000	1.240e-2	1.388e-2	
platelet-type bleeding disorder 15	Willis-ekbom disease	1	1	ACTN1 (2)	0.00521	1.00000	1.240e-2	1.388e-2	
spermatogenic failure, x-linked, 3	Willis-ekbom disease	1	1	CFAP47 (2)	0.00521	1.00000	1.240e-2	1.388e-2	
Cystinuria	Polycystic kidney disease	1	1	SLC7A9 (8)	0.01923	0.25000	1.241e-2	1.389e-2	
Circadian rhythm sleep disorder	Hyperuricemia	1	0	CNTN5 (1)	0.01493	0.33333	1.242e-2	1.390e-2	
CNGB1-related retinopathy	Peripheral neuropathy	1	1	CNGB1 (2)	0.00518	1.00000	1.247e-2	1.395e-2	
congenital disorder of deglycosylation 1	Peripheral neuropathy	1	1	NGLY1 (2)	0.00518	1.00000	1.247e-2	1.395e-2	
Cataract-growth hormone deficiency-skeletal dysplasia syndrome	Peripheral neuropathy	1	1	IARS2 (5)	0.00518	1.00000	1.247e-2	1.395e-2	
Childhood-onset basal ganglia degeneration syndrome	Peripheral neuropathy	1	1	VAC14 (3)	0.00518	1.00000	1.247e-2	1.395e-2	
Ataxia with oculomotor apraxia and hypoalbuminemia	Peripheral neuropathy	1	1	APTX (2)	0.00518	1.00000	1.247e-2	1.395e-2	
Axonal neuropathy with neuromyotonia	Peripheral neuropathy	1	1	HINT1 (3)	0.00518	1.00000	1.247e-2	1.395e-2	
Ectopic thyroid tissue	Peripheral neuropathy	1	1	FBXO31 (2)	0.00518	1.00000	1.247e-2	1.395e-2	
glycogen storage disease IXd	Peripheral neuropathy	1	1	PHKA1 (2)	0.00518	1.00000	1.247e-2	1.395e-2	
goldberg-shprintzen syndrome	Peripheral neuropathy	1	1	KIFBP (2)	0.00518	1.00000	1.247e-2	1.395e-2	
Celiac disease	isolated sulfite oxidase deficiency	1	1	SUOX (2)	0.00515	1.00000	1.253e-2	1.402e-2	47
Celiac disease	immunodeficiency 109 with lymphoproliferation	1	1	TNFRSF9 (3)	0.00515	1.00000	1.253e-2	1.402e-2	
Celiac disease	phosphoenolpyruvate carboxykinase deficiency, cytosolic	1	1	PCK1 (3)	0.00515	1.00000	1.253e-2	1.402e-2	
Beta-ureidopropionase deficiency	Celiac disease	1	1	UPB1 (6)	0.00515	1.00000	1.253e-2	1.402e-2	
Acetyl-coa carboxylase deficiency	Celiac disease	1	1	ACACA (2)	0.00515	1.00000	1.253e-2	1.402e-2	
Brody myopathy	Glomerulonephritis	1	1	RABEP2 (2)	0.01010	0.50000	1.256e-2	1.404e-2	
Glomerulonephritis	Omodysplasia	1	1	GPC6 (6)	0.01010	0.50000	1.256e-2	1.404e-2	
Diaphragm disease	Preeclampsia	1	0	WNT3A (1)	0.01000	0.50000	1.269e-2	1.419e-2	
Bladder calculus	Oculopharyngodistal myopathy	1	1	GIPC1 (5)	0.02222	0.20000	1.292e-2	1.445e-2	
Adenoid cystic carcinoma	Diaphragm disease	1	1	WNT5B (2)	0.00980	0.50000	1.295e-2	1.447e-2	
Arginine vasopressin resistance	Seasonal allergic rhinitis	1	1	AQP2 (2)	0.00980	0.50000	1.295e-2	1.447e-2	
Central hypoventilation syndrome	Hirschsprung disease	1	1	PHOX2B (6)	0.01429	0.33333	1.300e-2	1.453e-2	331
Hirschsprung disease	Hyperglycinuria	1	1	SLC6A20 (2)	0.01429	0.33333	1.300e-2	1.453e-2	
Cataract	Hyperbiliverdinemia	1	1	BLVRA (7)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	Prolidase deficiency	1	1	PEPD (3)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	Proximal renal tubular acidosis	1	1	SLC4A4 (4)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	Transaldolase deficiency	1	1	TALDO1 (6)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	methylmalonic aciduria, cblb type	1	1	MMAB (2)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	nance-horan syndrome	1	1	NHS (5)	0.00495	1.00000	1.305e-2	1.458e-2	51
Cataract	Uterine benign neoplasm	1	0	BET1L (1)	0.00495	1.00000	1.305e-2	1.458e-2	
carnitine palmitoyl transferase 1A deficiency	Cataract	1	1	CPT1A (2)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	Cataract-growth hormone deficiency-skeletal dysplasia syndrome	1	1	IARS2 (5)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	Cataract-microcornea-metabolic syndrome	1	1	SLC16A12 (3)	0.00495	1.00000	1.305e-2	1.458e-2	
Baralle-macken syndrome	Cataract	1	1	COPB1 (4)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	Congenital cataract severe neonatal hepatopathy developmental delay syndrome	1	1	CYP51A1 (2)	0.00495	1.00000	1.305e-2	1.458e-2	51
anterior segment dysgenesis 8	Cataract	1	1	CPAMD8 (2)	0.00495	1.00000	1.305e-2	1.458e-2	
Cataract	Corneal injury	1	0	ALDH3A1 (1)	0.00495	1.00000	1.305e-2	1.458e-2	
Ataxia, spastic, autosomal recessive	Hereditary spastic paraplegia	1	1	KIF1C (2)	0.00971	0.50000	1.308e-2	1.461e-2	
Congenital cataract hearing loss developmental delay syndrome	Hereditary spastic paraplegia	1	1	SLC33A1 (2)	0.00971	0.50000	1.308e-2	1.461e-2	
Autoimmune disease	combined immunodeficiency due to OX40 deficiency	1	1	TNFRSF4 (2)	0.00493	1.00000	1.312e-2	1.465e-2	
Autoimmune disease	Autoinflammation and autoimmunity, systemic, with immune dysregulation 1	1	0	COPA (1)	0.00493	1.00000	1.312e-2	1.465e-2	
Autoimmune disease	Autoinflammation with pulmonary and cutaneous vasculitis	1	1	HCK (5)	0.00493	1.00000	1.312e-2	1.465e-2	47
Autoimmune disease	Autoinflammation, immune dysregulation, and eosinophilia	1	1	JAK1 (5)	0.00493	1.00000	1.312e-2	1.465e-2	
Autoimmune disease	autosomal systemic lupus erythematosus type 16	1	1	DNASE1L3 (2)	0.00493	1.00000	1.312e-2	1.465e-2	
Autoimmune disease	syndromic multisystem autoimmune disease due to ITCH deficiency	1	1	ITCH (3)	0.00493	1.00000	1.312e-2	1.465e-2	
Autoimmune disease	hyper-IgM syndrome type 2	1	1	AICDA (2)	0.00493	1.00000	1.312e-2	1.465e-2	
Colonic neoplasms	Hmg-coa synthase deficiency	1	1	HMGCS2 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	immunodeficiency 109 with lymphoproliferation	1	1	TNFRSF9 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	immunodeficiency 61	1	1	SH3KBP1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Intellectual developmental disorder dysmorphic cardiac	Post-traumatic stress disorder	1	1	TMEM94 (4)	0.00490	1.00000	1.318e-2	1.469e-2	
Post-traumatic stress disorder	Tolchin-le caignec syndrome	1	1	SOX6 (4)	0.00490	1.00000	1.318e-2	1.469e-2	
Iga nephropathy	TSPAN12-related exudative vitreoretinopathy	1	1	TSPAN12 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Post-traumatic stress disorder	Van esch-o’driscoll syndrome	1	1	POLA1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	X-linked common variable immunodeficiency phenotype due to sh3kbp1 deficiency	1	1	SH3KBP1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Post-traumatic stress disorder	X-linked reticulate pigmentary disorder	1	1	POLA1 (5)	0.00490	1.00000	1.318e-2	1.469e-2	
intellectual developmental disorder with cardiac defects and dysmorphic facies	Post-traumatic stress disorder	1	1	TMEM94 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	ITPKB deficiency	1	1	ITPKB (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Iga nephropathy	leukemia, acute lymphoblastic, susceptibility to, 3	1	1	PAX5 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	fructose-1,6-bisphosphatase deficiency	1	1	FBP1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Gastroschisis	Iga nephropathy	1	0	ADD1 (1)	0.00490	1.00000	1.318e-2	1.469e-2	
Iga nephropathy	MPDU1-congenital disorder of glycosylation	1	1	MPDU1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	mucopolysaccharidosis type 2	1	1	IDS (2)	0.00490	1.00000	1.318e-2	1.469e-2	
multiple endocrine neoplasia type 1	Post-traumatic stress disorder	1	1	MEN1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
myopathy caused by variation in POMGNT2	Post-traumatic stress disorder	1	1	POMGNT2 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
osteopetrosis, autosomal dominant 3	Post-traumatic stress disorder	1	1	PLEKHM1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	1	1	KDM1A (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Iga nephropathy	PAX5-related B lymphopenia and autism spectrum disorder	1	1	PAX5 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	Erythrocyte lactate transporter defect	1	1	SLC16A1 (3)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	Fatty acid and ketone body metabolism disorder	1	1	SLC16A1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Colonic neoplasms	Fatty acid oxidation and ketone body metabolism disorder	1	1	SLC16A1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Autoinflammatory disease, systemic, with vasculitis	Iga nephropathy	1	1	LYN (4)	0.00490	1.00000	1.318e-2	1.469e-2	14
autosomal recessive osteopetrosis 6	Post-traumatic stress disorder	1	1	PLEKHM1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
autosomal recessive spinocerebellar ataxia 10	Post-traumatic stress disorder	1	1	ANO10 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Braddock-carey syndrome	Iga nephropathy	1	1	KIF15 (3)	0.00490	1.00000	1.318e-2	1.469e-2	
Central centrifugal cicatricial alopecia	Iga nephropathy	1	1	PADI3 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Cervicitis	Colonic neoplasms	1	1	IL32 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
ciliary dyskinesia, primary, 54	Post-traumatic stress disorder	1	1	CFAP54 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Cleft palate psychomotor retardation distinctive facial features	Colonic neoplasms	1	1	KDM1A (3)	0.00490	1.00000	1.318e-2	1.469e-2	
CNGA1-related retinopathy	Colonic neoplasms	1	1	CNGA1 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
21q22.11q22.12 microdeletion syndrome	Iga nephropathy	1	1	KIF15 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	Colonic neoplasms	1	1	HMGCS2 (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Acantholytic blistering of oral and laryngeal mucosa	Colonic neoplasms	1	1	DSG3 (4)	0.00490	1.00000	1.318e-2	1.469e-2	4
Adenylosuccinate lyase deficiency	Colonic neoplasms	1	1	ADSL (2)	0.00490	1.00000	1.318e-2	1.469e-2	
Alpha-mannosidosis	Iga nephropathy	1	1	MAN2B1 (4)	0.00490	1.00000	1.318e-2	1.469e-2	
Dermatologic disorder	Paraquat lung disease	1	1	SKIL (2)	0.01408	0.33333	1.319e-2	1.470e-2	
Chromosomal disorder	Vascular disease	1	0	COBL (1)	0.01786	0.25000	1.344e-2	1.498e-2	
Dopamine beta-hydroxy­lase deficiency	Spinocerebellar ataxia	1	1	HSPA5 (2)	0.00943	0.50000	1.346e-2	1.500e-2	
methylmalonic aciduria and homocystinuria	Spinocerebellar ataxia	1	1	THAP11 (3)	0.00943	0.50000	1.346e-2	1.500e-2	
Growth disorder	Tessadori-van haaften neurodevelopmental syndrome	1	1	H4C3 (5)	0.02439	0.16667	1.356e-2	1.511e-2	
Brain ischemia	Cystic fibrosis-related diabetes	1	1	CEBPB (3)	0.01370	0.33333	1.358e-2	1.513e-2	
Bipolar depression	Intellectual developmental disorder seizures speech	1	0	NTNG2 (1)	0.00935	0.50000	1.359e-2	1.514e-2	
Microcephaly	Thiamine metabolism dysfunction syndrome	1	1	SLC25A19 (3)	0.00926	0.50000	1.372e-2	1.528e-2	
Central nervous system malformation	Microcephaly	1	1	LMNB2 (5)	0.00926	0.50000	1.372e-2	1.528e-2	
Intellectual developmental disorder dysmorphic ptosis	Male infertility single gene azoospermia	1	1	RPL10L (2)	0.00917	0.50000	1.385e-2	1.543e-2	
Leigh syndrome	Sandhoff disease	1	1	GFM2 (2)	0.00917	0.50000	1.385e-2	1.543e-2	62
Complex regional pain syndrome	Sezary syndrome	1	1	RPS6KA1 (2)	0.02857	0.12500	1.395e-2	1.553e-2	
Neuronal ceroid lipofuscinosis	non-syndromic X-linked intellectual disability	1	1	SYP (3)	0.02632	0.14286	1.401e-2	1.560e-2	
Gastric cancer	thrombotic disease	1	1	MAST2 (2)	0.00457	1.00000	1.416e-2	1.576e-2	72
Gastric cancer	microcornea-myopic chorioretinal atrophy	1	1	ADAMTS18 (2)	0.00457	1.00000	1.416e-2	1.576e-2	
Gastric cancer	Vici syndrome	1	1	EPG5 (5)	0.00457	1.00000	1.416e-2	1.576e-2	
ehlers-danlos syndrome, musculocontractural type 1	Gastric cancer	1	1	CHST14 (2)	0.00457	1.00000	1.416e-2	1.576e-2	
friedreich ataxia	Gastric cancer	1	1	FXN (2)	0.00457	1.00000	1.416e-2	1.576e-2	72
autoimmune lymphoproliferative syndrome type 2A	Gastric cancer	1	1	CASP10 (3)	0.00457	1.00000	1.416e-2	1.576e-2	
Cardiofacio-neurodevelopmental syndrome	Gastric cancer	1	1	CCDC32 (5)	0.00457	1.00000	1.416e-2	1.576e-2	72
Chromosomal disorder	Clear cell renal cell carcinoma	1	0	GRB10 (1)	0.01695	0.25000	1.421e-2	1.582e-2	
cardiomyopathy, dilated, 2f	Psychiatric disorders	1	1	BAG5 (2)	0.00455	1.00000	1.422e-2	1.582e-2	75
combined immunodeficiency due to CD3gamma deficiency	Psychiatric disorders	1	1	CD3G (2)	0.00455	1.00000	1.422e-2	1.582e-2	
Congenital hereditary facial paralysis with variable hearing loss syndrome	Psychiatric disorders	1	1	HOXB1 (2)	0.00455	1.00000	1.422e-2	1.582e-2	
craniofrontonasal syndrome	Psychiatric disorders	1	1	EFNB1 (2)	0.00455	1.00000	1.422e-2	1.582e-2	
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	Psychiatric disorders	1	1	MEGF10 (3)	0.00455	1.00000	1.422e-2	1.582e-2	
MEGF10-related myopathy	Psychiatric disorders	1	1	MEGF10 (2)	0.00455	1.00000	1.422e-2	1.582e-2	
neuropathy, hereditary sensory and autonomic, type 1C	Psychiatric disorders	1	1	SPTLC2 (2)	0.00455	1.00000	1.422e-2	1.582e-2	
KIZ-related retinopathy	Psychiatric disorders	1	1	KIZ (2)	0.00455	1.00000	1.422e-2	1.582e-2	
Psychiatric disorders	Tay-Sachs disease AB variant	1	1	GM2A (2)	0.00455	1.00000	1.422e-2	1.582e-2	
GM3 synthase deficiency	Psychiatric disorders	1	1	ST3GAL5 (2)	0.00455	1.00000	1.422e-2	1.582e-2	
Psychiatric disorders	Salt and pepper developmental regression syndrome	1	1	ST3GAL5 (2)	0.00455	1.00000	1.422e-2	1.582e-2	
Developmental and epileptic encephalopathy	Intellectual developmental disorder speech ambulation	1	1	ACTL6B (5)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	neonatal/infantile epilepsy syndrome	1	1	KCNH5 (5)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	Hyperekplexia epilepsy syndrome	1	1	ARHGEF9 (5)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	intellectual developmental disorder 59	1	1	CAMK2G (3)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	familial hypobetalipoproteinemia 2	1	1	ANGPTL3 (2)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	focal segmental glomerulosclerosis and neurodevelopmental syndrome	1	1	TRIM8 (3)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	frontotemporal dementia and/or amyotrophic lateral sclerosis 5	1	1	CCNF (2)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	Genetic generalized epilepsy	1	1	TNK2 (2)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	glycosylphosphatidylinositol biosynthesis defect 18	1	1	PIGS (3)	0.00452	1.00000	1.429e-2	1.588e-2	
Cerebellar-facial-dental syndrome	Developmental and epileptic encephalopathy	1	1	BRF1 (5)	0.00452	1.00000	1.429e-2	1.588e-2	
Cervical dystonia	Developmental and epileptic encephalopathy	1	1	CIZ1 (2)	0.00452	1.00000	1.429e-2	1.588e-2	
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome	Developmental and epileptic encephalopathy	1	1	MEF2C (2)	0.00452	1.00000	1.429e-2	1.588e-2	
1q44 microdeletion syndrome	Developmental and epileptic encephalopathy	1	1	HNRNPU (5)	0.00452	1.00000	1.429e-2	1.588e-2	6
Developmental and epileptic encephalopathy	developmental and epileptic encephalopathy, 41	1	1	SLC1A2 (7)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	developmental and epileptic encephalopathy, 55	1	1	PIGP (6)	0.00452	1.00000	1.429e-2	1.588e-2	6
Developmental and epileptic encephalopathy	developmental and epileptic encephalopathy, 77	1	1	PIGQ (5)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	developmental and epileptic encephalopathy, 80	1	1	PIGB (5)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	Developmental delay and seizures	1	1	DHDDS (5)	0.00452	1.00000	1.429e-2	1.588e-2	
Developmental and epileptic encephalopathy	DHDDS-CDG	1	1	DHDDS (4)	0.00452	1.00000	1.429e-2	1.588e-2	
X-linked intellectual disability	X-linked syndromic complex neurodevelopmental disorder	1	1	AP1S2 (3)	0.01299	0.33333	1.435e-2	1.595e-2	129
Keratoconus	Malonic aciduria	1	1	MLYCD (7)	0.00885	0.50000	1.437e-2	1.596e-2	
Dyslexia	Male infertility acephalic spermatozoa	1	1	PMFBP1 (2)	0.00885	0.50000	1.437e-2	1.596e-2	272
Hodgkin lymphoma	Neuroocular syndrome	1	1	PRR12 (5)	0.00885	0.50000	1.437e-2	1.596e-2	
Keratoconus	Pancreatic trypsinogen deficiency	1	0	TRB (1)	0.00885	0.50000	1.437e-2	1.596e-2	
Deafness-infertility syndrome	Male infertility	1	1	CATSPER2 (4)	0.00885	0.50000	1.437e-2	1.596e-2	
Deafness, sensorineural, and male infertility	Male infertility	1	1	CATSPER2 (2)	0.00885	0.50000	1.437e-2	1.596e-2	
Ataxia, spastic, autosomal recessive	Keratoconus	1	1	KIF1C (3)	0.00885	0.50000	1.437e-2	1.596e-2	
Chondromalacia	Diverticulitis	1	0	ARHGAP15 (1)	0.02778	0.12500	1.446e-2	1.606e-2	
Myoadenylate deaminase deficiency	Myopathy	1	1	AMPD1 (2)	0.00877	0.50000	1.449e-2	1.610e-2	
Cerebral atherosclerosis	Periodontal disease	1	1	KALRN (2)	0.03226	0.08333	1.471e-2	1.634e-2	
Chromosomal disorder	Diffuse large b-cell lymphoma	1	1	IMMP2L (2)	0.01639	0.25000	1.473e-2	1.636e-2	
Inflammatory skin disease	Uncombable hair syndrome	1	1	TGM3 (6)	0.01266	0.33333	1.474e-2	1.636e-2	
Hypogonadism	Rotor syndrome	1	1	SLCO1B1 (4)	0.01266	0.33333	1.474e-2	1.636e-2	
meier-gorlin syndrome 5	Polycystic ovary syndrome	1	1	CDC6 (3)	0.00439	1.00000	1.474e-2	1.636e-2	
Microscopic polyangiitis	Polycystic ovary syndrome	1	0	CDH19 (1)	0.00439	1.00000	1.474e-2	1.636e-2	
neurodevelopmental disorder with hypotonia, neuropathy, and deafness	Polycystic ovary syndrome	1	1	SPTBN4 (3)	0.00439	1.00000	1.474e-2	1.636e-2	
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	Polycystic ovary syndrome	1	1	MAPK8IP3 (3)	0.00439	1.00000	1.474e-2	1.636e-2	
Ovarian teratoma	Polycystic ovary syndrome	1	1	BMP15 (3)	0.00439	1.00000	1.474e-2	1.636e-2	
immunodeficiency 126, susceptibility to	Polycystic ovary syndrome	1	1	PTCRA (3)	0.00439	1.00000	1.474e-2	1.636e-2	
immunodeficiency-centromeric instability-facial anomalies syndrome 4	Polycystic ovary syndrome	1	1	HELLS (3)	0.00439	1.00000	1.474e-2	1.636e-2	
Cervical cancer	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	1	1	CDC42 (2)	0.00439	1.00000	1.474e-2	1.636e-2	
hermansky-pudlak syndrome 8	Polycystic ovary syndrome	1	1	BLOC1S3 (3)	0.00439	1.00000	1.474e-2	1.636e-2	
dyskeratosis congenita and related telomere biology disorder	Polycystic ovary syndrome	1	1	RPA1 (2)	0.00439	1.00000	1.474e-2	1.636e-2	
Cervical cancer	severe combined immunodeficiency due to CD70 deficiency	1	1	CD70 (2)	0.00439	1.00000	1.474e-2	1.636e-2	
cardiomyopathy, dilated, 2g	Polycystic ovary syndrome	1	1	LMOD2 (2)	0.00439	1.00000	1.474e-2	1.636e-2	
Congenital lipoid adrenal hyperplasia	Polycystic ovary syndrome	1	1	STAR (5)	0.00439	1.00000	1.474e-2	1.636e-2	
Adult-onset proximal spinal muscular atrophy	Cervical cancer	1	1	VAPB (2)	0.00439	1.00000	1.474e-2	1.636e-2	
amyotrophic lateral sclerosis type 8	Cervical cancer	1	1	VAPB (2)	0.00439	1.00000	1.474e-2	1.636e-2	
Canavan disease	Premature ovarian failure	1	1	SPATA22 (3)	0.00862	0.50000	1.475e-2	1.637e-2	
Intellectual developmental disorder dysmorphic ptosis	Spermatogenic failure	1	1	RPL10L (4)	0.00862	0.50000	1.475e-2	1.637e-2	
Cerebellar ataxia	Neuroocular syndrome	1	1	DAGLA (2)	0.00862	0.50000	1.475e-2	1.637e-2	
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	Premature ovarian failure	1	0	PNPLA7 (1)	0.00862	0.50000	1.475e-2	1.637e-2	
Bronchopneumonia	Urticaria	1	0	CBLB (1)	0.01961	0.20000	1.485e-2	1.648e-2	
Childhood kidney wilms tumor	Ovarian epithelial cancer	1	1	CTR9 (2)	0.00855	0.50000	1.488e-2	1.651e-2	
Myoadenylate deaminase deficiency	Ovarian epithelial cancer	1	1	AMPD1 (2)	0.00855	0.50000	1.488e-2	1.651e-2	
Congenital neurologic anomalies	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	1	1	TRMT10A (3)	0.00855	0.50000	1.488e-2	1.651e-2	
Ovarian epithelial cancer	Sarcoglycanopathies	1	1	SGCG (2)	0.00855	0.50000	1.488e-2	1.651e-2	
Lymphocytic leukemia	Thiamine metabolism dysfunction syndrome	1	1	TPK1 (4)	0.00855	0.50000	1.488e-2	1.651e-2	
Congenital neurologic anomalies	Intellectual developmental disorder seizures speech	1	0	NTNG2 (1)	0.00855	0.50000	1.488e-2	1.651e-2	
Congenital neurologic anomalies	Lafora disease	1	1	EPM2A (4)	0.00855	0.50000	1.488e-2	1.651e-2	
Lafora disease	Ovarian epithelial cancer	1	1	EPM2A (5)	0.00855	0.50000	1.488e-2	1.651e-2	
Keratinocyte carcinoma	Uncombable hair syndrome	1	1	TGM3 (6)	0.01250	0.33333	1.493e-2	1.656e-2	
Sclerosing cholangitis	Xy gonadal dysgenesis syndrome	1	1	PPP2R3C (2)	0.00433	1.00000	1.494e-2	1.656e-2	
Partial corpus callosum agenesis	Sclerosing cholangitis	1	1	KPNA7 (3)	0.00433	1.00000	1.494e-2	1.656e-2	
Hyaline fibromatosis	Sclerosing cholangitis	1	1	ANTXR2 (3)	0.00433	1.00000	1.494e-2	1.656e-2	
Sclerosing cholangitis	Thauvin-robinet-faivre syndrome	1	1	FIBP (3)	0.00433	1.00000	1.494e-2	1.656e-2	
hepatic veno-occlusive disease-immunodeficiency syndrome	Sclerosing cholangitis	1	1	SP110 (2)	0.00433	1.00000	1.494e-2	1.656e-2	
dowling-degos disease 2	Sclerosing cholangitis	1	1	POFUT1 (2)	0.00433	1.00000	1.494e-2	1.656e-2	
autoimmune polyendocrine syndrome type 1	Dental caries	1	1	AIRE (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Autoinflammatory syndrome, familial, x-linked, behcet-like	Dental caries	1	1	ELF4 (5)	0.00431	1.00000	1.500e-2	1.663e-2	
autoinflammatory syndrome, familial, x-linked, behcet-like 2	Dental caries	1	1	ELF4 (2)	0.00431	1.00000	1.500e-2	1.663e-2	
autosomal recessive osteopetrosis 8	Dental caries	1	1	SNX10 (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Dental caries	X-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency	1	1	ELF4 (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Dental caries	phosphohydroxylysinuria	1	1	PHYKPL (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Dental caries	ITPKB deficiency	1	1	ITPKB (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Dental caries	microcornea-myopic chorioretinal atrophy	1	1	ADAMTS18 (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Dental caries	netherton syndrome	1	1	SPINK5 (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Dental caries	Dyggve-melchior-clausen syndrome	1	1	DYM (6)	0.00431	1.00000	1.500e-2	1.663e-2	
Dental caries	fontaine progeroid syndrome	1	1	SLC25A24 (2)	0.00431	1.00000	1.500e-2	1.663e-2	
Cannabis abuse	Rib fracture	1	0	TENM2 (1)	0.00847	0.50000	1.501e-2	1.663e-2	
Butyryl-coa dehydrogenase deficiency	Cannabis abuse	1	1	ACADS (3)	0.00847	0.50000	1.501e-2	1.663e-2	
3-methylcrotonyl-coa carboxylase deficiency	Cannabis abuse	1	1	MCCC2 (5)	0.00847	0.50000	1.501e-2	1.663e-2	2
Fanconi anemia	Renal pelvis neoplasms	1	1	FANCA (8)	0.02222	0.16667	1.510e-2	1.673e-2	
Circadian rhythm sleep disorder	Large artery stroke	1	0	CNTN5 (1)	0.01235	0.33333	1.512e-2	1.675e-2	
1q44 microdeletion syndrome	Epilepsy	1	1	HNRNPU (3)	0.00427	1.00000	1.513e-2	1.675e-2	
Ataxia with oculomotor apraxia and hypoalbuminemia	Epilepsy	1	1	APTX (2)	0.00427	1.00000	1.513e-2	1.675e-2	
developmental and epileptic encephalopathy, 77	Epilepsy	1	1	PIGQ (2)	0.00427	1.00000	1.513e-2	1.675e-2	223
Epilepsy	ritscher-schinzel syndrome 2	1	1	CCDC22 (3)	0.00427	1.00000	1.513e-2	1.675e-2	
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	Epilepsy	1	1	OTUD6B (2)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	episodic ataxia type 6	1	1	SLC1A3 (3)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	X-linked epilepsy with learning disability and behavior disorder syndrome	1	0	SYN1 (1)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	X-linked epilepsy with variable learning disabilities and behavior disorders	1	1	SYN1 (4)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	X-linked epilepsy-learning disabilities-behavior disorders syndrome	1	1	SYN1 (2)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	Neurogenic bladder	1	1	CHRM2 (2)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	Neurooculocardio-genitourinary syndrome	1	1	WDR37 (6)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	Partial corpus callosum agenesis	1	1	KPNA7 (3)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	hermansky-pudlak syndrome 4	1	1	HPS4 (2)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	intellectual developmental disorder with autistic features and language delay, with or without seizures	1	1	TANC2 (2)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	Juvenile absence epilepsy	1	1	EFHC1 (3)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	Intellectual developmental disorder dysmorphic seizures	1	1	OTUD6B (5)	0.00427	1.00000	1.513e-2	1.675e-2	
Epilepsy	Intellectual developmental disorder seizures language	1	1	SETD1B (3)	0.00427	1.00000	1.513e-2	1.675e-2	
Pancreatic neoplasms	Tropical calcific pancreatitis	1	1	SPINK1 (5)	0.00840	0.50000	1.514e-2	1.676e-2	
Connective tissue disease	Smith-mccort dysplasia	1	1	DYM (6)	0.00840	0.50000	1.514e-2	1.676e-2	
Congenital epithelial dysplasia of intestine	Pancreatic neoplasms	1	1	EPCAM (2)	0.00840	0.50000	1.514e-2	1.676e-2	
Bronchopneumonia	Head and neck neoplasms	1	0	CBLB (1)	0.01923	0.20000	1.517e-2	1.679e-2	
Birk-landau-perez syndrome	Obsessive-compulsive disorder	1	1	SLC30A9 (3)	0.00426	1.00000	1.520e-2	1.679e-2	
Branchioskeletogenital syndrome	Glaucoma	1	1	CDH11 (3)	0.00426	1.00000	1.520e-2	1.679e-2	
Diets-jongmans syndrome	Obsessive-compulsive disorder	1	1	KDM3B (5)	0.00426	1.00000	1.520e-2	1.679e-2	
Autoinflammation, immune dysregulation, and eosinophilia	Diabetic neuropathy	1	1	JAK1 (5)	0.00426	1.00000	1.520e-2	1.679e-2	
3-methylglutaconic aciduria type 1	Diabetic neuropathy	1	1	AUH (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Amaurosis hypertrichosis	Obsessive-compulsive disorder	1	1	CNNM4 (3)	0.00426	1.00000	1.520e-2	1.679e-2	
amyotrophic lateral sclerosis type 12	Glaucoma	1	1	OPTN (6)	0.00426	1.00000	1.520e-2	1.679e-2	
cardiomyopathy, dilated, 2f	Obsessive-compulsive disorder	1	1	BAG5 (2)	0.00426	1.00000	1.520e-2	1.679e-2	75
Carnosinase deficiency	Diabetic neuropathy	1	1	CNDP1 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Carnosinemia	Diabetic neuropathy	1	1	CNDP1 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
congenital muscular dystrophy with intellectual disability and severe epilepsy	Glaucoma	1	1	DPM2 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Obsessive-compulsive disorder	short chain acyl-coa dehydrogenase deficiency	1	1	ACADS (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Glaucoma	teebi hypertelorism syndrome 2	1	1	CDH11 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Glaucoma	Inflammatory demyelinating polyneuropathy	1	0	CNBD1 (1)	0.00426	1.00000	1.520e-2	1.679e-2	
Glaucoma	glaucoma, normal tension, susceptibility to	1	1	OPTN (6)	0.00426	1.00000	1.520e-2	1.679e-2	
Diabetic neuropathy	Perlman syndrome	1	1	DIS3L2 (5)	0.00426	1.00000	1.520e-2	1.679e-2	182
Glaucoma	PRPF8-related retinopathy	1	1	PRPF8 (3)	0.00426	1.00000	1.520e-2	1.679e-2	
Obsessive-compulsive disorder	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	1	1	SLC30A9 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Diabetic neuropathy	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	1	1	ALPK1 (3)	0.00426	1.00000	1.520e-2	1.679e-2	
focal segmental glomerulosclerosis and neurodevelopmental syndrome	Obsessive-compulsive disorder	1	1	TRIM8 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Diabetic neuropathy	Neurogenic bladder	1	1	CHRM2 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Glaucoma	neuropathy, hereditary sensory and autonomic, type 1A	1	1	SPTLC1 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Glaucoma	obsolete glaucoma 1, open angle, F	1	1	ASB10 (5)	0.00426	1.00000	1.520e-2	1.679e-2	
Diabetic neuropathy	Winkelman bethge pfeiffer syndrome	1	1	LHX3 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
jalili syndrome	Obsessive-compulsive disorder	1	1	CNNM4 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
KIZ-related retinopathy	Obsessive-compulsive disorder	1	1	KIZ (2)	0.00426	1.00000	1.520e-2	1.679e-2	
Glaucoma	lessel-kreienkamp syndrome	1	1	AGO2 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
methylmalonic acidemia due to transcobalamin receptor defect	Obsessive-compulsive disorder	1	1	CD320 (2)	0.00426	1.00000	1.520e-2	1.679e-2	
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	Obsessive-compulsive disorder	1	1	SHMT2 (2)	0.00426	1.00000	1.520e-2	1.679e-2	75
Biliary tract cancer	Lafora disease	1	1	NHLRC1 (5)	0.00833	0.50000	1.527e-2	1.687e-2	
Developmental delay with or without intellectual or behavioral abnormalities	Nonsyndromic hearing loss	1	1	TRRAP (4)	0.00833	0.50000	1.527e-2	1.687e-2	
Developmental delay with or without intellectual or behavioral abnormalities	Isolated sensorineural deafness	1	1	TRRAP (4)	0.00826	0.50000	1.540e-2	1.701e-2	
Atherosclerosis	Childhood kidney wilms tumor	1	1	TRIM28 (3)	0.00826	0.50000	1.540e-2	1.701e-2	
Complex regional pain syndrome	Congenital nasopharyngeal atresia	1	1	SPAG1 (2)	0.02632	0.12500	1.548e-2	1.711e-2	
Brain injuries	Cystic fibrosis-related diabetes	1	1	CEBPB (2)	0.01205	0.33333	1.551e-2	1.713e-2	
Congenital cataract hearing loss developmental delay syndrome	Spastic paraplegia	1	1	SLC33A1 (4)	0.00820	0.50000	1.553e-2	1.715e-2	
Aortic valve stenosis	Spastic paraplegia	1	1	HACE1 (3)	0.00820	0.50000	1.553e-2	1.715e-2	
Autoinflammation with episodic fever and immune dysregulation	Respiratory system disease	1	1	SHARPIN (4)	0.00413	1.00000	1.565e-2	1.729e-2	
Axonal neuropathy with neuromyotonia	Respiratory system disease	1	1	HINT1 (4)	0.00413	1.00000	1.565e-2	1.729e-2	
Catifa syndrome	Respiratory system disease	1	1	RIC1 (5)	0.00413	1.00000	1.565e-2	1.729e-2	
ITPKB deficiency	Respiratory system disease	1	1	ITPKB (2)	0.00413	1.00000	1.565e-2	1.729e-2	
lymphoproliferative syndrome 1	Respiratory system disease	1	1	ITK (2)	0.00413	1.00000	1.565e-2	1.729e-2	
optic atrophy 9	Respiratory system disease	1	1	ACO2 (2)	0.00413	1.00000	1.565e-2	1.729e-2	
Mitochondrial disease	optic atrophy 11	1	1	YME1L1 (3)	0.00412	1.00000	1.572e-2	1.734e-2	
Mitochondrial disease	optic atrophy 9	1	1	ACO2 (3)	0.00412	1.00000	1.572e-2	1.734e-2	
Mitochondrial disease	Pancreatic insufficiency syndrome	1	1	COX4I2 (6)	0.00412	1.00000	1.572e-2	1.734e-2	62
Mitochondrial disease	Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay	1	1	TRMT5 (5)	0.00412	1.00000	1.572e-2	1.734e-2	62
Early-onset dystonia with spastic paraplegia	Mitochondrial disease	1	1	ATP5MC3 (5)	0.00412	1.00000	1.572e-2	1.734e-2	62
frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Mitochondrial disease	1	1	CHCHD10 (3)	0.00412	1.00000	1.572e-2	1.734e-2	
Mitochondrial disease	Spastic ataxia optic atrophy dysarthria syndrome	1	1	MTPAP (4)	0.00412	1.00000	1.572e-2	1.734e-2	
Mitochondrial disease	Spastic ataxia with leukoencephalopathy	1	1	MARS2 (4)	0.00412	1.00000	1.572e-2	1.734e-2	
hyperphosphatasia with intellectual disability syndrome 6	Mitochondrial disease	1	1	PIGY (2)	0.00412	1.00000	1.572e-2	1.734e-2	
Mitochondrial disease	Mitochondrial encephalocardiomyopathy	1	1	TMEM70 (3)	0.00412	1.00000	1.572e-2	1.734e-2	62
Childhood-onset dystonia	Mitochondrial disease	1	0	MECR (1)	0.00412	1.00000	1.572e-2	1.734e-2	
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	Mitochondrial disease	1	1	MECR (4)	0.00412	1.00000	1.572e-2	1.734e-2	
3-hydroxyisobutyryl-coa hydrolase deficiency	Mitochondrial disease	1	1	HIBCH (4)	0.00412	1.00000	1.572e-2	1.734e-2	
3-methylglutaconic aciduria type 9	Mitochondrial disease	1	1	TIMM50 (2)	0.00412	1.00000	1.572e-2	1.734e-2	
Aminoglycoside-induced deafness	Mitochondrial disease	1	1	TRMU (4)	0.00412	1.00000	1.572e-2	1.734e-2	
autosomal recessive optic atrophy, OPA7 type	Mitochondrial disease	1	1	TMEM126A (3)	0.00412	1.00000	1.572e-2	1.734e-2	
Combined oxidative phosphorylation defect	Mitochondrial disease	1	1	WARS2 (3)	0.00412	1.00000	1.572e-2	1.734e-2	
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Mitochondrial disease	1	1	PDSS1 (5)	0.00412	1.00000	1.572e-2	1.734e-2	
Central vertigo	Ocular hypertension	1	0	OTOGL (1)	0.01852	0.20000	1.581e-2	1.745e-2	
Ocular hypertension	Peripheral vertigo	1	0	OTOGL (1)	0.01852	0.20000	1.581e-2	1.745e-2	
Cardiomyopathy	Malonyl-coa decarboxylase deficiency	1	1	MLYCD (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	Mitochondrial encephalocardiomyopathy	1	1	TMEM70 (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	nemaline myopathy 5	1	1	TNNT1 (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	primary ciliary dyskinesia 2	1	1	DNAAF3 (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	intrinsic cardiomyopathy	1	1	PLN (4)	0.00408	1.00000	1.585e-2	1.747e-2	3
Cardiomyopathy	Vici syndrome	1	1	EPG5 (6)	0.00408	1.00000	1.585e-2	1.747e-2	3
Cardiomyopathy	xeroderma pigmentosum group E	1	1	DDB2 (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	cardiomyopathy, dilated, 2d	1	1	RPL3L (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	cardiomyopathy, dilated, 2f	1	1	BAG5 (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	Danon disease	1	1	LAMP2 (5)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	dilated cardiomyopathy 1CC	1	1	NEXN (4)	0.00408	1.00000	1.585e-2	1.747e-2	3
Cardiomyopathy	dilated cardiomyopathy 1M	1	1	CSRP3 (4)	0.00408	1.00000	1.585e-2	1.747e-2	3
Cardiomyopathy	dilated cardiomyopathy 1Z	1	1	TNNC1 (4)	0.00408	1.00000	1.585e-2	1.747e-2	3
Cardiomyopathy	DK1-congenital disorder of glycosylation	1	1	DOLK (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Cardiomyopathy	DPM3-congenital disorder of glycosylation	1	1	DPM3 (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Beta-sarcoglycanopathy	Cardiomyopathy	1	1	SGCB (3)	0.00408	1.00000	1.585e-2	1.747e-2	
Amish nemaline myopathy	Cardiomyopathy	1	1	TNNT1 (2)	0.00408	1.00000	1.585e-2	1.747e-2	
Barth syndrome	Cardiomyopathy	1	1	TAFAZZIN (5)	0.00408	1.00000	1.585e-2	1.747e-2	3
Pernicious anemia	Seborrheic keratosis	1	0	POU2F3 (1)	0.02564	0.12500	1.600e-2	1.763e-2	
Diverticular disease	pseudohypoaldosteronism type 2E	1	1	CUL3 (2)	0.00400	1.00000	1.617e-2	1.782e-2	
Diverticular disease	schneckenbecken dysplasia	1	1	SLC35D1 (2)	0.00400	1.00000	1.617e-2	1.782e-2	
Diverticular disease	FADD-related immunodeficiency	1	1	FADD (3)	0.00400	1.00000	1.617e-2	1.782e-2	
Diverticular disease	immunodeficiency 106, susceptibility to viral infections	1	1	IFNAR1 (2)	0.00400	1.00000	1.617e-2	1.782e-2	
Diverticular disease	joubert syndrome 30	1	1	ARMC9 (2)	0.00400	1.00000	1.617e-2	1.782e-2	
Diverticular disease	macular corneal dystrophy	1	1	CHST6 (2)	0.00400	1.00000	1.617e-2	1.782e-2	
Chromosome 12p deletion syndrome	Diverticular disease	1	1	ERC1 (3)	0.00400	1.00000	1.617e-2	1.782e-2	
Congenital insufficiency of mitral valve	Diverticular disease	1	1	LMCD1 (2)	0.00400	1.00000	1.617e-2	1.782e-2	
Adenosine kinase deficiency	Diverticular disease	1	1	ADK (3)	0.00400	1.00000	1.617e-2	1.782e-2	
Biotinidase deficiency	Diverticular disease	1	1	BTD (8)	0.00400	1.00000	1.617e-2	1.782e-2	
Autoimmune nervous system disorder	Mouth neoplasms	1	1	ANXA5 (2)	0.01493	0.25000	1.627e-2	1.792e-2	
Skin cancer	Uncombable hair syndrome	1	1	TGM3 (6)	0.01149	0.33333	1.628e-2	1.793e-2	
Anorexia nervosa	short chain acyl-coa dehydrogenase deficiency	1	1	ACADS (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	pseudohypoaldosteronism type 2E	1	1	CUL3 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	1	1	SLC30A9 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Kidney failure	RD3-related retinopathy	1	1	RD3 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	1	1	SHMT2 (2)	0.00397	1.00000	1.630e-2	1.794e-2	75
Anorexia nervosa	jalili syndrome	1	1	CNNM4 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	KIZ-related retinopathy	1	1	KIZ (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	Hip dislocation-facial dysmorphism syndrome	1	1	TRIM33 (3)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	hyperprolinemia type 2	1	1	ALDH4A1 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	focal segmental glomerulosclerosis and neurodevelopmental syndrome	1	1	TRIM8 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Beta-ketothiolase deficiency	Kidney failure	1	1	ACAT1 (5)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	Birk-landau-perez syndrome	1	1	SLC30A9 (3)	0.00397	1.00000	1.630e-2	1.794e-2	
Dalmatian hypouricemia	Kidney failure	1	1	SLC22A12 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	Diets-jongmans syndrome	1	1	KDM3B (5)	0.00397	1.00000	1.630e-2	1.794e-2	
Anorexia nervosa	cardiomyopathy, dilated, 2f	1	1	BAG5 (2)	0.00397	1.00000	1.630e-2	1.794e-2	75
carnitine palmitoyl transferase 1A deficiency	Kidney failure	1	1	CPT1A (3)	0.00397	1.00000	1.630e-2	1.794e-2	
Childhood-onset basal ganglia degeneration syndrome	Pancreatic cancer	1	1	VAC14 (3)	0.00397	1.00000	1.630e-2	1.794e-2	
A4GALT-congenital disorder of glycosylation	Kidney failure	1	1	A4GALT (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Acromelic frontonasal dysostosis	Anorexia nervosa	1	1	ZSWIM6 (2)	0.00397	1.00000	1.630e-2	1.794e-2	
Amaurosis hypertrichosis	Anorexia nervosa	1	1	CNNM4 (3)	0.00397	1.00000	1.630e-2	1.794e-2	
Aplasia cutis-enamel dysplasia syndrome	Lung neoplasms	1	1	FOSL2 (5)	0.00392	1.00000	1.650e-2	1.814e-2	
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome	Lung neoplasms	1	1	FOSL2 (2)	0.00392	1.00000	1.650e-2	1.814e-2	
Corpus callosum agenesis with intellectual disability, coloboma, micrognathia	Lung neoplasms	1	1	IGBP1 (5)	0.00392	1.00000	1.650e-2	1.814e-2	
Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia	Lung neoplasms	1	1	IGBP1 (3)	0.00392	1.00000	1.650e-2	1.814e-2	
extraoral halitosis due to methanethiol oxidase deficiency	Lung neoplasms	1	1	SELENBP1 (2)	0.00392	1.00000	1.650e-2	1.814e-2	4
Lung neoplasms	Prader-willi-like syndrome	1	1	CPE (2)	0.00392	1.00000	1.650e-2	1.814e-2	
Lung neoplasms	Pulmonary agenesis	1	1	EFNB2 (2)	0.00392	1.00000	1.650e-2	1.814e-2	4
Lung neoplasms	Rufous oculocutaneous albinism	1	0	TYRP1 (1)	0.00392	1.00000	1.650e-2	1.814e-2	
Lung neoplasms	SMARCC1-associated developmental dysgenesis syndrome	1	1	SMARCC1 (2)	0.00392	1.00000	1.650e-2	1.814e-2	
Lung neoplasms	Urinary tract obstruction	1	1	RIOX2 (2)	0.00392	1.00000	1.650e-2	1.814e-2	
Lung neoplasms	xeroderma pigmentosum group C	1	1	XPC (2)	0.00392	1.00000	1.650e-2	1.814e-2	
Lung neoplasms	mucopolysaccharidosis type 2	1	1	IDS (2)	0.00392	1.00000	1.650e-2	1.814e-2	
Fructokinase deficiency	Vascular dementia	1	1	CGREF1 (2)	0.00769	0.50000	1.656e-2	1.821e-2	
Neuroocular syndrome	Systemic sclerosis	1	1	PRR12 (5)	0.00769	0.50000	1.656e-2	1.821e-2	22
Congenital cataract microcornea with corneal opacity	Systemic sclerosis	1	1	PXDN (3)	0.00769	0.50000	1.656e-2	1.821e-2	
Danon disease	Hypertrophic cardiomyopathy	1	1	LAMP2 (5)	0.00389	1.00000	1.663e-2	1.827e-2	
dilated cardiomyopathy 1M	Hypertrophic cardiomyopathy	1	1	CSRP3 (4)	0.00389	1.00000	1.663e-2	1.827e-2	3
dilated cardiomyopathy 1Z	Hypertrophic cardiomyopathy	1	1	TNNC1 (3)	0.00389	1.00000	1.663e-2	1.827e-2	3
distal myopathy with vocal cord weakness	Hypertrophic cardiomyopathy	1	1	MATR3 (2)	0.00389	1.00000	1.663e-2	1.827e-2	
Hypertrophic cardiomyopathy	Parkinsonism with polyneuropathy	1	1	UQCRC1 (3)	0.00389	1.00000	1.663e-2	1.827e-2	
Hypertrophic cardiomyopathy	Rhizomelic dysplasia, ain-naz type	1	1	GNPNAT1 (4)	0.00389	1.00000	1.663e-2	1.827e-2	
episodic ataxia type 6	Hypertrophic cardiomyopathy	1	1	SLC1A3 (2)	0.00389	1.00000	1.663e-2	1.827e-2	
Hypertrophic cardiomyopathy	Tritanopia	1	1	OPN1SW (4)	0.00389	1.00000	1.663e-2	1.827e-2	
Hypertrophic cardiomyopathy	Intellectual developmental disorder behavioral dysmorphic	1	1	PHF21A (4)	0.00389	1.00000	1.663e-2	1.827e-2	
Esophageal squamous cell carcinoma	White spongue nevus	1	1	KRT13 (6)	0.00763	0.50000	1.669e-2	1.834e-2	
Autoinflammatory syndrome	Proteasome associated autoinflammatory syndrome	1	1	PSMB8 (6)	0.02273	0.14286	1.670e-2	1.836e-2	
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	Tourette syndrome	1	1	SLC30A9 (2)	0.00386	1.00000	1.676e-2	1.840e-2	
shwachman-diamond syndrome 2	Tourette syndrome	1	1	EFL1 (2)	0.00386	1.00000	1.676e-2	1.840e-2	
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	Tourette syndrome	1	1	SHMT2 (2)	0.00386	1.00000	1.676e-2	1.840e-2	75
Hypertryptophanemia	Tourette syndrome	1	1	TDO2 (6)	0.00386	1.00000	1.676e-2	1.840e-2	
Intellectual developmental disorder seizures behavioral	Tourette syndrome	1	1	ALG14 (4)	0.00386	1.00000	1.676e-2	1.840e-2	
Early-onset distal myopathy	Tourette syndrome	1	1	KLHL9 (2)	0.00386	1.00000	1.676e-2	1.840e-2	75
familial hypertryptophanemia	Tourette syndrome	1	1	TDO2 (2)	0.00386	1.00000	1.676e-2	1.840e-2	
jalili syndrome	Tourette syndrome	1	1	CNNM4 (2)	0.00386	1.00000	1.676e-2	1.840e-2	
KIZ-related retinopathy	Tourette syndrome	1	1	KIZ (2)	0.00386	1.00000	1.676e-2	1.840e-2	
Diets-jongmans syndrome	Tourette syndrome	1	1	KDM3B (5)	0.00386	1.00000	1.676e-2	1.840e-2	
Amaurosis hypertrichosis	Tourette syndrome	1	1	CNNM4 (3)	0.00386	1.00000	1.676e-2	1.840e-2	
Birk-landau-perez syndrome	Tourette syndrome	1	1	SLC30A9 (3)	0.00386	1.00000	1.676e-2	1.840e-2	
cardiomyopathy, dilated, 2f	Tourette syndrome	1	1	BAG5 (2)	0.00386	1.00000	1.676e-2	1.840e-2	75
Cancer	Laryngeal hypoplasia	1	1	FOXP4 (2)	0.00382	1.00000	1.695e-2	1.861e-2	
Cancer	snijders blok-campeau syndrome	1	1	CHD3 (2)	0.00382	1.00000	1.695e-2	1.861e-2	
Cancer	thrombocytopenia 2	1	1	ANKRD26 (2)	0.00382	1.00000	1.695e-2	1.861e-2	
Cancer	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	1	1	ZCCHC8 (2)	0.00382	1.00000	1.695e-2	1.861e-2	
Cancer	Essential pentosuria	1	1	DCXR (2)	0.00382	1.00000	1.695e-2	1.861e-2	21
Cancer	immune dysregulation, autoimmunity, and autoinflammation	1	1	PLCG1 (2)	0.00382	1.00000	1.695e-2	1.861e-2	
Cancer	immunodeficiency-centromeric instability-facial anomalies syndrome 3	1	1	CDCA7 (2)	0.00382	1.00000	1.695e-2	1.861e-2	
Chromosome y microdeletion syndrome	Testicular azoospermia	1	1	DDX3Y (2)	0.02439	0.12500	1.702e-2	1.869e-2	
Charcot-marie-tooth disease	Congenital cataract facial dysmorphism neuropathy syndrome	1	1	CTDP1 (6)	0.00746	0.50000	1.707e-2	1.874e-2	
Congenital stromal corneal dystrophy	Endometrial neoplasms	1	1	DCN (4)	0.00746	0.50000	1.707e-2	1.874e-2	
Endometrial neoplasms	Toe syndactyly-telecanthus-anogenital and renal malformations syndrome	1	1	STAR (2)	0.00746	0.50000	1.707e-2	1.874e-2	
glycogen storage disease IXc	Liver cirrhosis	1	1	PHKG2 (2)	0.00377	1.00000	1.715e-2	1.882e-2	
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	Liver cirrhosis	1	1	SLC38A8 (2)	0.00377	1.00000	1.715e-2	1.882e-2	
Liver cirrhosis	Mineralocortocoid excess	1	1	HSD11B2 (7)	0.00377	1.00000	1.715e-2	1.882e-2	
Corticosteroid-binding globulin deficiency	Liver cirrhosis	1	1	SERPINA6 (6)	0.00377	1.00000	1.715e-2	1.882e-2	
apparent mineralocorticoid excess	Liver cirrhosis	1	1	HSD11B2 (3)	0.00377	1.00000	1.715e-2	1.882e-2	
Brain calcification	Liver cirrhosis	1	0	FARSB (1)	0.00377	1.00000	1.715e-2	1.882e-2	
Kleine-levin syndrome	Microphthalmia	1	1	NAA10 (6)	0.02222	0.14286	1.715e-2	1.882e-2	
Angiokeratoma	Intellectual developmental disorder, x-linked	1	1	GLA (2)	0.01087	0.33333	1.724e-2	1.892e-2	
cardiomyopathy, dilated, 2k	Juvenile idiopathic arthritis	1	1	MYZAP (2)	0.00375	1.00000	1.727e-2	1.895e-2	320
Aplasia cutis-enamel dysplasia syndrome	Juvenile idiopathic arthritis	1	1	FOSL2 (4)	0.00375	1.00000	1.727e-2	1.895e-2	
atypical glycine encephalopathy	Juvenile idiopathic arthritis	1	1	SLC6A9 (2)	0.00375	1.00000	1.727e-2	1.895e-2	
combined immunodeficiency due to moesin deficiency	Juvenile idiopathic arthritis	1	1	MSN (2)	0.00375	1.00000	1.727e-2	1.895e-2	
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome	Juvenile idiopathic arthritis	1	1	FOSL2 (2)	0.00375	1.00000	1.727e-2	1.895e-2	
fanconi anemia complementation group l	Juvenile idiopathic arthritis	1	1	FANCL (2)	0.00375	1.00000	1.727e-2	1.895e-2	
Glycinuria with/without oxalate urolithiasis	Hirschsprung disease	1	1	SLC6A20 (2)	0.01408	0.25000	1.729e-2	1.897e-2	
Irritable bowel syndrome	Patellar tendinitis	1	0	STK17A (1)	0.00735	0.50000	1.733e-2	1.901e-2	2
osteopetrosis, autosomal dominant 3	Ovarian serous carcinoma	1	1	PLEKHM1 (2)	0.00369	1.00000	1.753e-2	1.922e-2	
hao-fountain syndrome	Ovarian serous carcinoma	1	1	USP7 (2)	0.00369	1.00000	1.753e-2	1.922e-2	
immunodeficiency-centromeric instability-facial anomalies syndrome 3	Ovarian serous carcinoma	1	1	CDCA7 (2)	0.00369	1.00000	1.753e-2	1.922e-2	
Ovarian serous carcinoma	Short telomere syndrome	1	1	ACD (2)	0.00369	1.00000	1.753e-2	1.922e-2	
Ovarian serous carcinoma	snijders blok-campeau syndrome	1	1	CHD3 (2)	0.00369	1.00000	1.753e-2	1.922e-2	
Laryngeal hypoplasia	Ovarian serous carcinoma	1	1	FOXP4 (2)	0.00369	1.00000	1.753e-2	1.922e-2	
16p13.2 microdeletion syndrome	Ovarian serous carcinoma	1	1	USP7 (2)	0.00369	1.00000	1.753e-2	1.922e-2	
ACD-related short telomere syndrome	Ovarian serous carcinoma	1	1	ACD (2)	0.00369	1.00000	1.753e-2	1.922e-2	
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Ovarian serous carcinoma	1	1	PDSS1 (4)	0.00369	1.00000	1.753e-2	1.922e-2	
autosomal recessive osteopetrosis 6	Ovarian serous carcinoma	1	1	PLEKHM1 (2)	0.00369	1.00000	1.753e-2	1.922e-2	
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	Dilated cardiomyopathy	1	1	PPP1R13L (3)	0.00365	1.00000	1.773e-2	1.942e-2	
Atrial tachyarrhythmia, infra-hisian cardiac conduction disease	Dilated cardiomyopathy	1	1	TNNI3K (3)	0.00365	1.00000	1.773e-2	1.942e-2	3
Barth syndrome	Dilated cardiomyopathy	1	1	TAFAZZIN (6)	0.00365	1.00000	1.773e-2	1.942e-2	3
Danon disease	Dilated cardiomyopathy	1	1	LAMP2 (5)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	dilated cardiomyopathy 1M	1	1	CSRP3 (8)	0.00365	1.00000	1.773e-2	1.942e-2	3
Dilated cardiomyopathy	dilated cardiomyopathy 1V	1	1	PSEN2 (7)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	dilated cardiomyopathy 1Z	1	1	TNNC1 (8)	0.00365	1.00000	1.773e-2	1.942e-2	3
Dilated cardiomyopathy	dilated cardiomyopathy 2B	1	1	GATAD1 (7)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	DK1-congenital disorder of glycosylation	1	1	DOLK (4)	0.00365	1.00000	1.773e-2	1.942e-2	
cardiomyopathy, dilated, 2d	Dilated cardiomyopathy	1	1	RPL3L (6)	0.00365	1.00000	1.773e-2	1.942e-2	
cardiomyopathy, dilated, 2g	Dilated cardiomyopathy	1	1	LMOD2 (6)	0.00365	1.00000	1.773e-2	1.942e-2	
cardiomyopathy, dilated, 2h	Dilated cardiomyopathy	1	1	GET3 (6)	0.00365	1.00000	1.773e-2	1.942e-2	3
cardiomyopathy, dilated, 2j	Dilated cardiomyopathy	1	1	FLII (6)	0.00365	1.00000	1.773e-2	1.942e-2	
cardiomyopathy, dilated, 2k	Dilated cardiomyopathy	1	1	MYZAP (5)	0.00365	1.00000	1.773e-2	1.942e-2	
combined immunodeficiency due to OX40 deficiency	Dilated cardiomyopathy	1	1	TNFRSF4 (3)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	lymphoproliferative syndrome 2	1	1	CD27 (3)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	immunodeficiency 109 with lymphoproliferation	1	1	TNFRSF9 (3)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	Spastic ataxia with leukoencephalopathy	1	1	MARS2 (2)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	spermatogenic failure 39	1	1	DNAH17 (2)	0.00365	1.00000	1.773e-2	1.942e-2	
Dilated cardiomyopathy	Rhizomelic dysplasia, ain-naz type	1	1	GNPNAT1 (4)	0.00365	1.00000	1.773e-2	1.942e-2	
Birt-hogg-dube syndrome	Renal cell carcinoma	1	1	FLCN (6)	0.00709	0.50000	1.797e-2	1.968e-2	
Carnitine acetyltransferase deficiency	Pelvic organ prolapse	1	1	CRAT (2)	0.00709	0.50000	1.797e-2	1.968e-2	
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Immunodeficiency	1	1	RNF31 (6)	0.00709	0.50000	1.797e-2	1.968e-2	
Degenerative polyarthritis	Immunodeficiency	1	1	TLR8 (4)	0.00709	0.50000	1.797e-2	1.968e-2	
Cirrhosis	Digestive system disease	1	1	UTP4 (2)	0.01042	0.33333	1.801e-2	1.972e-2	
Congenital heart defects	Visceral heterotaxy	1	1	LEFTY2 (2)	0.01351	0.25000	1.806e-2	1.978e-2	
Gastroesophageal reflux disease	microcephaly and chorioretinopathy 1	1	1	TUBGCP6 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	microcornea-myopic chorioretinal atrophy	1	1	ADAMTS18 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	Muggenthaler-chowdhury-chioza syndrome	1	1	HYAL2 (3)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	neonatal/infantile epilepsy syndrome	1	1	KCNH5 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Depression	neurodevelopmental disorder with language impairment and behavioral abnormalities	1	1	GRIA2 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	glycogen storage disease VI	1	1	PYGL (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	hemochromatosis type 3	1	1	TFR2 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	hermansky-pudlak syndrome 8	1	1	BLOC1S3 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Depression	surfactant metabolism dysfunction, pulmonary, 5	1	1	CSF2RB (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Depression	systemic lupus erythematosus 17	1	1	TLR7 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	Thauvin-robinet-faivre syndrome	1	1	FIBP (3)	0.00357	1.00000	1.812e-2	1.981e-2	
Depression	familial hypertryptophanemia	1	1	TDO2 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Depression	Hypertryptophanemia	1	1	TDO2 (6)	0.00357	1.00000	1.812e-2	1.981e-2	
Depression	immunodeficiency 106, susceptibility to viral infections	1	1	IFNAR1 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Gastroesophageal reflux disease	immunodeficiency 53	1	1	RELB (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome	Gastroesophageal reflux disease	1	1	HYAL2 (3)	0.00357	1.00000	1.812e-2	1.981e-2	
Dorfman-chanarin disease	Gastroesophageal reflux disease	1	1	ABHD5 (3)	0.00357	1.00000	1.812e-2	1.981e-2	
2,8-dihydroxyadenine urolithiasis	Depression	1	0	APRT (1)	0.00357	1.00000	1.812e-2	1.981e-2	
Adenine phosphoribosyltransferase deficiency	Depression	1	1	APRT (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Alopecia-neurological defects-endocrinopathy syndrome	Depression	1	1	RBM28 (3)	0.00357	1.00000	1.812e-2	1.981e-2	2
Congenital heart defect, intellectual disability, facial dysmorphism syndrome	Gastroesophageal reflux disease	1	1	CDK13 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Apolipoprotein c-ii deficiency	Gastroesophageal reflux disease	1	1	APOC2 (3)	0.00357	1.00000	1.812e-2	1.981e-2	
Apolipoprotein c2 deficiency	Gastroesophageal reflux disease	1	1	APOC2 (4)	0.00357	1.00000	1.812e-2	1.981e-2	
bone marrow failure syndrome 6	Depression	1	1	MDM4 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Borderline personality disorder	Depression	1	0	TPH1 (1)	0.00357	1.00000	1.812e-2	1.981e-2	
brain dopamine-serotonin vesicular transport disease	Depression	1	1	SLC18A2 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Childhood-onset basal ganglia degeneration syndrome	Gastroesophageal reflux disease	1	1	VAC14 (3)	0.00357	1.00000	1.812e-2	1.981e-2	
Chromosome 15q deletion syndrome	Depression	1	1	MCTP2 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Chromosome 2p16.1-p15 deletion syndrome	Gastroesophageal reflux disease	1	1	USP34 (2)	0.00357	1.00000	1.812e-2	1.981e-2	
Acetyl-coa acetyltransferase deficiency	Seizures	1	1	ACAT1 (3)	0.00699	0.50000	1.823e-2	1.993e-2	
Developmental delay with or without intellectual or behavioral abnormalities	Nonsyndromic intellectual disability	1	1	TAOK1 (4)	0.00699	0.50000	1.823e-2	1.993e-2	
Intellectual developmental disorder speech peripheral neuropathy	Nonsyndromic intellectual disability	1	1	NEMF (5)	0.00699	0.50000	1.823e-2	1.993e-2	
Hyperlipidemia	propionic acidemia	1	1	PCCB (2)	0.00699	0.50000	1.823e-2	1.993e-2	
Glycine encephalopathy	Osteosarcoma	1	1	GLDC (8)	0.01613	0.20000	1.837e-2	2.008e-2	
Developmental disability	Intellectual developmental disorder dysmorphic ptosis	1	1	BRPF1 (5)	0.00690	0.50000	1.849e-2	2.020e-2	
Multiple myeloma	Thyroid hormone metabolism disorder	1	1	DIO1 (3)	0.00690	0.50000	1.849e-2	2.020e-2	
adult neuronal ceroid lipofuscinosis	Developmental disability	1	1	CTSF (2)	0.00690	0.50000	1.849e-2	2.020e-2	
Congenital cataract hearing loss developmental delay syndrome	Developmental disability	1	1	SLC33A1 (3)	0.00690	0.50000	1.849e-2	2.020e-2	
Lewis lung carcinoma	Mesothelioma	1	0	TXNRD1 (1)	0.00680	0.50000	1.875e-2	2.048e-2	
Heart disease	Rib fracture	1	0	TENM2 (1)	0.00676	0.50000	1.887e-2	2.062e-2	
Ankle fracture	Osteoporosis	1	0	WNT16 (1)	0.00676	0.50000	1.887e-2	2.062e-2	
Diaphragm disease	Osteoporosis	1	1	WNT3A (2)	0.00676	0.50000	1.887e-2	2.062e-2	
Colorectal neoplasms	Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum	1	1	DONSON (2)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	DPAGT1-congenital disorder of glycosylation	1	1	DPAGT1 (2)	0.00342	1.00000	1.890e-2	2.064e-2	
colorectal cancer, susceptibility to, 1	Colorectal neoplasms	1	1	GALNT12 (2)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	congenital bile acid synthesis defect 5	1	1	ABCD3 (2)	0.00342	1.00000	1.890e-2	2.064e-2	
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity	Colorectal neoplasms	1	1	GUCY2C (3)	0.00342	1.00000	1.890e-2	2.064e-2	
Blepharophimosis-ptosis-epicanthus inversus syndrome	Colorectal neoplasms	1	1	FOXL2 (6)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	PGM1-congenital disorder of glycosylation	1	1	PGM1 (2)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	Parenti-mignot neurodevelopmental syndrome	1	1	CHD5 (5)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	Duodenal atresia	1	1	GUCY2C (2)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	Enteropathy	1	1	SLCO2A1 (3)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	extraoral halitosis due to methanethiol oxidase deficiency	1	1	SELENBP1 (2)	0.00342	1.00000	1.890e-2	2.064e-2	4
Colorectal neoplasms	hyper-IgM syndrome type 5	1	1	UNG (2)	0.00342	1.00000	1.890e-2	2.064e-2	
Colorectal neoplasms	Intellectual developmental disorder autism speech dysmorphic	1	1	CHD1 (2)	0.00342	1.00000	1.890e-2	2.064e-2	
Diabetes mellitus	immune dysregulation, autoimmunity, and autoinflammation	1	1	PLCG1 (2)	0.00337	1.00000	1.922e-2	2.098e-2	
Estrogen-receptor negative breast cancer	snijders blok-campeau syndrome	1	1	CHD3 (2)	0.00337	1.00000	1.922e-2	2.098e-2	
Estrogen-receptor negative breast cancer	Uric acid urolithiasis	1	1	ZNF365 (2)	0.00337	1.00000	1.922e-2	2.098e-2	
Estrogen-receptor negative breast cancer	glycosylphosphatidylinositol biosynthesis defect 17	1	1	PIGH (2)	0.00337	1.00000	1.922e-2	2.098e-2	
Diabetes mellitus	mehmo syndrome	1	1	EIF2S3 (3)	0.00337	1.00000	1.922e-2	2.098e-2	182
ciliary dyskinesia, primary, 49, without situs inversus	Estrogen-receptor negative breast cancer	1	1	CFAP74 (2)	0.00337	1.00000	1.922e-2	2.098e-2	
Autoimmune nervous system disorder	Common variable immunodeficiency	1	1	EOMES (3)	0.01266	0.25000	1.934e-2	2.111e-2	
Borderline personality disorder	Mood disorder	1	0	TPH1 (1)	0.00334	1.00000	1.935e-2	2.112e-2	
dopa-responsive dystonia due to sepiapterin reductase deficiency	Mood disorder	1	1	SPR (2)	0.00334	1.00000	1.935e-2	2.112e-2	
ciliary dyskinesia, primary, 45	Mood disorder	1	1	TTC12 (2)	0.00334	1.00000	1.935e-2	2.112e-2	
Congenital small-platelet thrombocytopenia	Mood disorder	1	1	FYB1 (3)	0.00334	1.00000	1.935e-2	2.112e-2	
chondrodysplasia with joint dislocations, gpapp type	Mood disorder	1	1	BPNT2 (2)	0.00334	1.00000	1.935e-2	2.112e-2	
Choreoacanthocytosis	Mood disorder	1	1	VPS13A (3)	0.00334	1.00000	1.935e-2	2.112e-2	
Mood disorder	thrombocytopenia 3	1	1	FYB1 (2)	0.00334	1.00000	1.935e-2	2.112e-2	
Mood disorder	pseudohypoaldosteronism type 2E	1	1	CUL3 (2)	0.00334	1.00000	1.935e-2	2.112e-2	
Mood disorder	xeroderma pigmentosum group E	1	1	DDB2 (2)	0.00334	1.00000	1.935e-2	2.112e-2	
Neuroblastoma	Ocular anomalies with axonal neuropathy and developmental delay	1	1	CHD5 (2)	0.00654	0.50000	1.952e-2	2.129e-2	
Astrocytoma	retinitis pigmentosa 86	1	1	KIAA1549 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	Rhizomelic limb shortening with dysmorphic features	1	1	PKDCC (5)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	Salt and pepper developmental regression syndrome	1	1	ST3GAL5 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	GM3 synthase deficiency	1	1	ST3GAL5 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	Helsmoortel-van der aa syndrome	1	0	ADNP (1)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	hypomyelinating leukodystrophy 5	1	1	HYCC1 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	scalp-ear-nipple syndrome	1	1	KCTD1 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	shwachman-diamond syndrome 2	1	1	EFL1 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	1	1	RAP1B (2)	0.00331	1.00000	1.955e-2	2.131e-2	291
Astrocytoma	fibrodysplasia ossificans progressiva	1	1	ACVR1 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	cardiomyopathy, dilated, 2k	1	1	MYZAP (2)	0.00331	1.00000	1.955e-2	2.131e-2	
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Astrocytoma	1	1	ADNP (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	Congenital lethal myopathy 	1	1	CNTN1 (3)	0.00331	1.00000	1.955e-2	2.131e-2	
Astrocytoma	Compton-north congenital myopathy	1	1	CNTN1 (2)	0.00331	1.00000	1.955e-2	2.131e-2	
Fructokinase deficiency	Liver neoplasms	1	1	CGREF1 (2)	0.00649	0.50000	1.965e-2	2.142e-2	
Hereditary arterial and articular multiple calcification syndrome	Stomach neoplasms	1	1	NT5E (4)	0.00326	1.00000	1.987e-2	2.164e-2	
hereditary fructose intolerance	Stomach neoplasms	1	1	ALDOB (2)	0.00326	1.00000	1.987e-2	2.164e-2	
dyskeratosis congenita, autosomal recessive 3	Uterine fibroid	1	1	WRAP53 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
extraoral halitosis due to methanethiol oxidase deficiency	Stomach neoplasms	1	1	SELENBP1 (2)	0.00326	1.00000	1.987e-2	2.164e-2	4
primordial dwarfism-immunodeficiency-lipodystrophy syndrome	Uterine fibroid	1	1	PRIM1 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
Retrograde amnesia	Stomach neoplasms	1	1	PREP (2)	0.00326	1.00000	1.987e-2	2.164e-2	
Microtia	Stomach neoplasms	1	1	HOXA2 (3)	0.00326	1.00000	1.987e-2	2.164e-2	
mitochondrial short-chain enoyl-coa hydratase 1 deficiency	Stomach neoplasms	1	1	ECHS1 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Uterine fibroid	1	1	POLR2A (2)	0.00326	1.00000	1.987e-2	2.164e-2	
hypomyelinating leukodystrophy 13	Stomach neoplasms	1	1	HIKESHI (2)	0.00326	1.00000	1.987e-2	2.164e-2	
IDH3B-related retinopathy	Stomach neoplasms	1	1	IDH3B (2)	0.00326	1.00000	1.987e-2	2.164e-2	
immunodeficiency, common variable, 10	Uterine fibroid	1	1	NFKB2 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
Isobutyryl-coa dehydrogenase deficiency	Stomach neoplasms	1	1	ACAD8 (3)	0.00326	1.00000	1.987e-2	2.164e-2	4
KCND2-related neurodevelopmental disorder with or without seizures	Uterine fibroid	1	1	KCND2 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
leukodystrophy, hypomyelinating, 21	Stomach neoplasms	1	1	POLR3K (2)	0.00326	1.00000	1.987e-2	2.164e-2	
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	Uterine fibroid	1	1	CDC42 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
Stomach neoplasms	White-kernohan syndrome	1	1	DDB1 (5)	0.00326	1.00000	1.987e-2	2.164e-2	
Congenital alpha-fetoprotein deficiency	Stomach neoplasms	1	1	AFP (3)	0.00326	1.00000	1.987e-2	2.164e-2	
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	Stomach neoplasms	1	1	EXOSC5 (5)	0.00326	1.00000	1.987e-2	2.164e-2	4
Cerebrocostomandibular syndrome	Stomach neoplasms	1	1	SNRPB (6)	0.00326	1.00000	1.987e-2	2.164e-2	
Bilateral microtia with deafness and cleft palate syndrome	Stomach neoplasms	1	1	HOXA2 (5)	0.00326	1.00000	1.987e-2	2.164e-2	
autoimmune lymphoproliferative syndrome type 2A	Stomach neoplasms	1	1	CASP10 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
autosomal dominant combined immunodeficiency due to ERBIN deficiency	Uterine fibroid	1	1	ERBIN (2)	0.00326	1.00000	1.987e-2	2.164e-2	
Autosomal recessive hypomyelinating leukodystrophy	Stomach neoplasms	1	1	HIKESHI (4)	0.00326	1.00000	1.987e-2	2.164e-2	
diencephalic-mesencephalic junction dysplasia syndrome 2	Uterine fibroid	1	1	GSX2 (2)	0.00326	1.00000	1.987e-2	2.164e-2	
Anterior pituitary function deficiency with variable immunodeficiency	Uterine fibroid	1	1	NFKB2 (3)	0.00326	1.00000	1.987e-2	2.164e-2	
Liver failure	Tessadori-van haaften neurodevelopmental syndrome	1	1	H4C1 (2)	0.01724	0.16667	2.010e-2	2.188e-2	
3m syndrome	Spinocerebellar ataxia	1	1	CCDC8 (4)	0.00935	0.33333	2.013e-2	2.191e-2	92
Cole-carpenter syndrome	Spinocerebellar ataxia	1	1	P4HB (6)	0.00935	0.33333	2.013e-2	2.191e-2	
2,4-dienoyl-coa reductase deficiency	Liver disease	1	1	DECR1 (3)	0.00629	0.50000	2.029e-2	2.208e-2	
Aicardi syndrome	Liver disease	1	1	TEAD1 (2)	0.00629	0.50000	2.029e-2	2.208e-2	
Liver disease	Sveinsson chorioretinal atrophy	1	1	TEAD1 (4)	0.00629	0.50000	2.029e-2	2.208e-2	
Liver disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	1	1	TRMT10A (3)	0.00629	0.50000	2.029e-2	2.208e-2	
Behcet disease	Interferon gamma receptor deficiency	1	1	IFNGR1 (3)	0.00926	0.33333	2.032e-2	2.211e-2	
Advanced sleep phase syndrome	Bipolar depression	1	1	PER3 (2)	0.00926	0.33333	2.032e-2	2.211e-2	
Ankylosing spondylitis	combined immunodeficiency due to OX40 deficiency	1	1	TNFRSF4 (2)	0.00318	1.00000	2.033e-2	2.211e-2	
Ankylosing spondylitis	dowling-degos disease 2	1	1	POFUT1 (2)	0.00318	1.00000	2.033e-2	2.211e-2	
Ankylosing spondylitis	Autoinflammation and autoimmunity, systemic, with immune dysregulation 1	1	1	COPA (2)	0.00318	1.00000	2.033e-2	2.211e-2	
Ankylosing spondylitis	Autoinflammation with pulmonary and cutaneous vasculitis	1	1	HCK (4)	0.00318	1.00000	2.033e-2	2.211e-2	
Ankylosing spondylitis	scott syndrome	1	1	ANO6 (3)	0.00318	1.00000	2.033e-2	2.211e-2	
Ankylosing spondylitis	El-hayek-chahrour neurodevelopmental syndrome	1	1	KDM5A (4)	0.00318	1.00000	2.033e-2	2.211e-2	
Ankylosing spondylitis	Xy gonadal dysgenesis syndrome	1	1	PPP2R3C (2)	0.00318	1.00000	2.033e-2	2.211e-2	
hereditary spastic paraplegia 62	Nonalcoholic fatty liver disease	1	1	ERLIN1 (2)	0.00315	1.00000	2.052e-2	2.232e-2	
maple syrup urine disease type 1B	Nonalcoholic fatty liver disease	1	1	BCKDHB (2)	0.00315	1.00000	2.052e-2	2.232e-2	
methylmalonic aciduria and homocystinuria type cblF	Nonalcoholic fatty liver disease	1	1	LMBRD1 (2)	0.00315	1.00000	2.052e-2	2.232e-2	
familial hemophagocytic lymphohistiocytosis 2	Nonalcoholic fatty liver disease	1	1	PRF1 (3)	0.00315	1.00000	2.052e-2	2.232e-2	
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	Nonalcoholic fatty liver disease	1	1	SLC38A8 (2)	0.00315	1.00000	2.052e-2	2.232e-2	
Nonalcoholic fatty liver disease	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	1	1	ARPC1B (2)	0.00315	1.00000	2.052e-2	2.232e-2	
hyperprolinemia type 2	Nonalcoholic fatty liver disease	1	1	ALDH4A1 (3)	0.00315	1.00000	2.052e-2	2.232e-2	
autosomal recessive cerebellar ataxia	Nonalcoholic fatty liver disease	1	1	CWF19L1 (2)	0.00315	1.00000	2.052e-2	2.232e-2	
Anaphylatoxin inactivator deficiency	Nonalcoholic fatty liver disease	1	1	CPN1 (2)	0.00315	1.00000	2.052e-2	2.232e-2	
Carboxypeptidase n deficiency	Nonalcoholic fatty liver disease	1	1	CPN1 (4)	0.00315	1.00000	2.052e-2	2.232e-2	
Leigh syndrome	Lipoyltransferase deficiency	1	1	LIPT1 (7)	0.00909	0.33333	2.070e-2	2.251e-2	
Alzheimer disease	Developmental delay with language and ocular abnormalities	2	2	ARPC4 (4), ARPC4-TTLL3 (2)	0.00090	1.00000	2.074e-2	2.255e-2	2
Atelis syndrome	Upper aerodigestive tract neoplasm	1	1	SMC5 (4)	0.00613	0.50000	2.080e-2	2.262e-2	
Kidney cancer	Very long chain acyl-coa dehydrogenase deficiency	1	1	DLG4 (2)	0.01176	0.25000	2.088e-2	2.270e-2	
Generalized epilepsy	Glycine encephalopathy	1	1	GLDC (7)	0.01429	0.20000	2.093e-2	2.276e-2	
hermansky-pudlak syndrome 4	Stroke	1	1	HPS4 (2)	0.00309	1.00000	2.098e-2	2.280e-2	
Stroke	tyrosinemia type I	1	1	FAH (2)	0.00309	1.00000	2.098e-2	2.280e-2	
snijders blok-campeau syndrome	Stroke	1	1	CHD3 (2)	0.00309	1.00000	2.098e-2	2.280e-2	
PRPF8-related retinopathy	Stroke	1	1	PRPF8 (3)	0.00309	1.00000	2.098e-2	2.280e-2	
congenital disorder of glycosylation with defective fucosylation 1	Stroke	1	1	FUT8 (2)	0.00309	1.00000	2.098e-2	2.280e-2	
Diabetic retinopathy	Thyroid hemiagenesis	1	1	VPS13C (2)	0.00602	0.50000	2.119e-2	2.303e-2	
Basal cell carcinoma	xeroderma pigmentosum group A	1	1	XPA (2)	0.00305	1.00000	2.124e-2	2.307e-2	
Basal cell carcinoma	Intellectual disability, anterior maxillary protrusion, and strabismus	1	1	SOBP (3)	0.00305	1.00000	2.124e-2	2.307e-2	
Basal cell carcinoma	histidinemia	1	1	HAL (2)	0.00305	1.00000	2.124e-2	2.307e-2	16
Basal cell carcinoma	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	1	1	SLC6A17 (2)	0.00305	1.00000	2.124e-2	2.307e-2	16
Basal cell carcinoma	RAB28-related retinopathy	1	1	RAB28 (2)	0.00305	1.00000	2.124e-2	2.307e-2	
Basal cell carcinoma	Enteropathy	1	1	SLCO2A1 (3)	0.00305	1.00000	2.124e-2	2.307e-2	
Basal cell carcinoma	factor V and factor VIII, combined deficiency of, type 1	1	1	LMAN1 (2)	0.00305	1.00000	2.124e-2	2.307e-2	
Basal cell carcinoma	Developmental delay with hypotonia and impaired language	1	1	FBXW7 (5)	0.00305	1.00000	2.124e-2	2.307e-2	
Anterior maxillary protrusion-strabismus-intellectual disability syndrome	Basal cell carcinoma	1	1	SOBP (3)	0.00305	1.00000	2.124e-2	2.307e-2	
Cystinosis	Nephrotic syndrome	1	1	CTNS (6)	0.00595	0.50000	2.145e-2	2.330e-2	
Amyotrophic lateral sclerosis	diencephalic-mesencephalic junction dysplasia syndrome 2	1	1	GSX2 (3)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	distal myopathy with vocal cord weakness	1	1	MATR3 (6)	0.00300	1.00000	2.156e-2	2.338e-2	
12q15q21 microdeletion syndrome	Amyotrophic lateral sclerosis	1	1	CNOT2 (3)	0.00300	1.00000	2.156e-2	2.338e-2	
3-hydroxyacyl-coa dehydrogenase deficiency	Amyotrophic lateral sclerosis	1	1	HADH (3)	0.00300	1.00000	2.156e-2	2.338e-2	
Adult-onset proximal spinal muscular atrophy	Amyotrophic lateral sclerosis	1	1	VAPB (7)	0.00300	1.00000	2.156e-2	2.338e-2	
ALS2-related motor neuron disease	Amyotrophic lateral sclerosis	1	1	ALS2 (8)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	1	1	TIA1 (5)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	amyotrophic lateral sclerosis type 15	1	1	UBQLN2 (7)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	amyotrophic lateral sclerosis type 18	1	1	PFN1 (7)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	amyotrophic lateral sclerosis type 23	1	1	ANXA11 (6)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	amyotrophic lateral sclerosis type 8	1	1	VAPB (7)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	amyotrophic lateral sclerosis type 9	1	1	ANG (8)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	ciliary dyskinesia, primary, 46	1	1	STK36 (2)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Congenital arthrogryposis with anterior horn cell disease	1	1	GLE1 (5)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Arthrogryposis with anterior horn cell disease	1	1	GLE1 (4)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Copper metabolism disorder	1	0	CCS (1)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Bilateral congenital vertical talus	1	1	HOXD10 (2)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Dworschak-punetha neurodevelopmental syndrome	1	1	PLXNA1 (5)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	frontotemporal dementia and/or amyotrophic lateral sclerosis	1	1	GRN (2)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	1	1	CHCHD10 (4)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Intellectual developmental disorder speech ambulation	1	1	ACTL6B (4)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	T-B+ severe combined immunodeficiency due to JAK3 deficiency	1	1	JAK3 (3)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Telangiectasia–intellectual disability–microcephaly–metaphyseal dysplasia–eye abnormalities–short stature syndrome	1	1	LRRC8C (3)	0.00300	1.00000	2.156e-2	2.338e-2	13
Amyotrophic lateral sclerosis	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	1	1	CHMP2B (6)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	hereditary spastic paraplegia 11	1	1	SPG11 (8)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	hereditary spastic paraplegia 62	1	1	ERLIN1 (2)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	neuropathy, hereditary sensory and autonomic, type 1A	1	1	SPTLC1 (6)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	neuropathy, hereditary sensory and autonomic, type 1C	1	1	SPTLC2 (3)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	1	1	HADH (2)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	oculopharyngodistal myopathy 1	1	1	LRP12 (4)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Vertical talus	1	1	HOXD10 (3)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Xerosis with immune and pulmonary dysfunction syndrome	1	1	DBR1 (5)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Xgip syndrome	1	1	DBR1 (2)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	1	1	HNRNPA2B1 (3)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Intellectual developmental disorder dysmorphic skeletal	1	1	CNOT2 (4)	0.00300	1.00000	2.156e-2	2.338e-2	
Amyotrophic lateral sclerosis	Intellectual developmental disorder dysmorphic speech skeletal	1	1	CNOT2 (2)	0.00300	1.00000	2.156e-2	2.338e-2	
Meniere disease	Peripheral vertigo	1	1	OTOGL (2)	0.01389	0.20000	2.157e-2	2.339e-2	
Central vertigo	Meniere disease	1	1	OTOGL (2)	0.01389	0.20000	2.157e-2	2.339e-2	
Cerebral atherosclerosis	Oral cavity carcinoma	1	0	ZDHHC21 (1)	0.02500	0.08333	2.161e-2	2.343e-2	
Carnitine palmitoyltransferase deficiency	Myopathy	1	1	CPT2 (8)	0.00870	0.33333	2.166e-2	2.349e-2	
multiple acyl-CoA dehydrogenase deficiency	Myopathy	1	1	ETFDH (2)	0.00870	0.33333	2.166e-2	2.349e-2	
Brain cancer	Non-organic psychosis	1	1	APOBEC3C (2)	0.01351	0.20000	2.221e-2	2.406e-2	
Catifa syndrome	Venous thromboembolism	1	1	RIC1 (5)	0.00292	1.00000	2.221e-2	2.406e-2	
Developmental delay with overweight and facial dysmorphism	Venous thromboembolism	1	1	SRRM2 (3)	0.00292	1.00000	2.221e-2	2.406e-2	
A4GALT-congenital disorder of glycosylation	Venous thromboembolism	1	1	A4GALT (2)	0.00292	1.00000	2.221e-2	2.406e-2	
agammaglobulinemia 10, autosomal dominant	Venous thromboembolism	1	1	SPI1 (2)	0.00292	1.00000	2.221e-2	2.406e-2	
Curly hair ankyloblepharon nail dysplasia syndrome	Venous thromboembolism	1	1	RIPK4 (3)	0.00292	1.00000	2.221e-2	2.406e-2	
Axonal neuropathy with neuromyotonia	Venous thromboembolism	1	1	HINT1 (4)	0.00292	1.00000	2.221e-2	2.406e-2	
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Venous thromboembolism	1	1	GEMIN5 (2)	0.00292	1.00000	2.221e-2	2.406e-2	
Intellectual developmental disorder growth metabolic	Venous thromboembolism	1	1	DIP2B (3)	0.00292	1.00000	2.221e-2	2.406e-2	34
syndromic multisystem autoimmune disease due to ITCH deficiency	Venous thromboembolism	1	1	ITCH (2)	0.00292	1.00000	2.221e-2	2.406e-2	
Focal dystonia	Venous thromboembolism	1	1	GNAL (3)	0.00292	1.00000	2.221e-2	2.406e-2	
Upshaw-schulman syndrome	Venous thromboembolism	1	1	ADAMTS13 (2)	0.00292	1.00000	2.221e-2	2.406e-2	
Venous thromboembolism	xeroderma pigmentosum group E	1	1	DDB2 (2)	0.00292	1.00000	2.221e-2	2.406e-2	
Biliary tract cancer	Uncombable hair syndrome	1	1	TGM3 (6)	0.00826	0.33333	2.282e-2	2.472e-2	
Biliary tract cancer	Paraquat lung disease	1	1	SMAD7 (3)	0.00826	0.33333	2.282e-2	2.472e-2	
Atherosclerosis	Salt-sensitive hypertension	1	0	ADD1 (1)	0.00820	0.33333	2.301e-2	2.492e-2	
Congestive heart failure	Lewis lung carcinoma	1	1	TXNRD1 (2)	0.00552	0.50000	2.312e-2	2.496e-2	
Brody myopathy	Congestive heart failure	1	1	ATP2A1 (6)	0.00552	0.50000	2.312e-2	2.496e-2	
Butyryl-coa dehydrogenase deficiency	Congestive heart failure	1	1	ACADS (2)	0.00552	0.50000	2.312e-2	2.496e-2	
Benign flecked retina	Retinitis pigmentosa	1	1	PLA2G5 (5)	0.00280	1.00000	2.312e-2	2.496e-2	
Bosch-boonstra-schaaf optic atrophy syndrome	Retinitis pigmentosa	1	1	NR2F1 (5)	0.00280	1.00000	2.312e-2	2.496e-2	
CACNA2D4-related retinopathy	Retinitis pigmentosa	1	1	CACNA2D4 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
CAPN5-related vitreoretinopathy	Retinitis pigmentosa	1	1	CAPN5 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
autosomal recessive optic atrophy, OPA7 type	Retinitis pigmentosa	1	1	TMEM126A (2)	0.00280	1.00000	2.312e-2	2.496e-2	7
BBS1-related ciliopathy	Retinitis pigmentosa	1	1	BBS1 (4)	0.00280	1.00000	2.312e-2	2.496e-2	
BBS2-related ciliopathy	Retinitis pigmentosa	1	1	BBS2 (7)	0.00280	1.00000	2.312e-2	2.496e-2	
BBS4-related ciliopathy	Retinitis pigmentosa	1	1	BBS4 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
BBS5-related ciliopathy	Retinitis pigmentosa	1	1	BBS5 (2)	0.00280	1.00000	2.312e-2	2.496e-2	7
BBS7-related ciliopathy	Retinitis pigmentosa	1	1	BBS7 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
Deafness dystonia syndrome	Retinitis pigmentosa	1	1	TIMM8A (4)	0.00280	1.00000	2.312e-2	2.496e-2	
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Retinitis pigmentosa	1	1	PDSS1 (4)	0.00280	1.00000	2.312e-2	2.496e-2	
Developmental delay and seizures	Retinitis pigmentosa	1	1	DHDDS (6)	0.00280	1.00000	2.312e-2	2.496e-2	
DHDDS-CDG	Retinitis pigmentosa	1	1	DHDDS (7)	0.00280	1.00000	2.312e-2	2.496e-2	
CEP164-related ciliopathy	Retinitis pigmentosa	1	1	CEP164 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism	Retinitis pigmentosa	1	1	PRDM13 (5)	0.00280	1.00000	2.312e-2	2.496e-2	
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Retinitis pigmentosa	1	1	TRNT1 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
Costeff optic atrophy syndrome	Retinitis pigmentosa	1	0	OPA3 (1)	0.00280	1.00000	2.312e-2	2.496e-2	
CNGB1-related retinopathy	Retinitis pigmentosa	1	1	CNGB1 (7)	0.00280	1.00000	2.312e-2	2.496e-2	
cone-rod dystrophy and hearing loss 2	Retinitis pigmentosa	1	1	CEP250 (4)	0.00280	1.00000	2.312e-2	2.496e-2	
Abri amyloidosis	Retinitis pigmentosa	1	1	ITM2B (2)	0.00280	1.00000	2.312e-2	2.496e-2	
acyl-CoA binding domain containing protein 5 deficiency	Retinitis pigmentosa	1	1	ACBD5 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
Acyl-coa binding domain containing protein deficiency	Retinitis pigmentosa	1	1	ACBD5 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
ADAM9-related retinopathy	Retinitis pigmentosa	1	1	ADAM9 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
Alzahrani-kuwahara syndrome	Retinitis pigmentosa	1	1	SMG8 (3)	0.00280	1.00000	2.312e-2	2.496e-2	7
Amaurosis hypertrichosis	Retinitis pigmentosa	1	1	CNNM4 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
jalili syndrome	Retinitis pigmentosa	1	1	CNNM4 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
LZTFL1-related ciliopathy	Retinitis pigmentosa	1	1	LZTFL1 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
Mak-related retinopathy	Retinitis pigmentosa	1	1	MAK (7)	0.00280	1.00000	2.312e-2	2.496e-2	
PHARC syndrome	Retinitis pigmentosa	1	1	ABHD12 (2)	0.00280	1.00000	2.312e-2	2.496e-2	7
phytanoyl-CoA hydroxylase deficiency	Retinitis pigmentosa	1	1	PHYH (3)	0.00280	1.00000	2.312e-2	2.496e-2	
PRPF31-related retinopathy	Retinitis pigmentosa	1	1	PRPF31 (7)	0.00280	1.00000	2.312e-2	2.496e-2	7
RAB28-related retinopathy	Retinitis pigmentosa	1	1	RAB28 (3)	0.00280	1.00000	2.312e-2	2.496e-2	7
RCBTB1-related retinopathy	Retinitis pigmentosa	1	1	RCBTB1 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
RD3-related retinopathy	Retinitis pigmentosa	1	1	RD3 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	retinitis pigmentosa 18	1	1	PRPF3 (7)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	retinitis pigmentosa 27	1	1	NRL (7)	0.00280	1.00000	2.312e-2	2.496e-2	7
Retinitis pigmentosa	retinitis pigmentosa 86	1	1	KIAA1549 (7)	0.00280	1.00000	2.312e-2	2.496e-2	7
Retinitis pigmentosa	retinitis pigmentosa 9	1	1	RP9 (6)	0.00280	1.00000	2.312e-2	2.496e-2	7
Retinitis pigmentosa	Retinitis pigmentosa and erythrocytic microcytosis	1	1	TRNT1 (5)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	Retinitis pigmentosa with or without situs inversus	1	1	ARL2BP (6)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	1	1	EXOSC2 (5)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	Sideroblastic anemia with b-cell immunodeficiency	1	1	TRNT1 (6)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	snowflake vitreoretinal degeneration	1	1	KCNJ13 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	SNRNP200-related dominant retinopathy	1	1	SNRNP200 (8)	0.00280	1.00000	2.312e-2	2.496e-2	7
Retinitis pigmentosa	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	1	1	PCYT1A (2)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	SRD5A3-congenital disorder of glycosylation	1	1	SRD5A3 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
methylmalonic aciduria and homocystinuria type cblC	Retinitis pigmentosa	1	1	MMACHC (2)	0.00280	1.00000	2.312e-2	2.496e-2	
microcephaly and chorioretinopathy 1	Retinitis pigmentosa	1	1	TUBGCP6 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
mucopolysaccharidosis type 3C	Retinitis pigmentosa	1	1	HGSNAT (6)	0.00280	1.00000	2.312e-2	2.496e-2	
Neovascular inflammatory vitreoretinopathy	Retinitis pigmentosa	1	1	CAPN5 (4)	0.00280	1.00000	2.312e-2	2.496e-2	
IDH3B-related retinopathy	Retinitis pigmentosa	1	1	IDH3B (7)	0.00280	1.00000	2.312e-2	2.496e-2	7
IMPDH1-related retinopathy	Retinitis pigmentosa	1	1	IMPDH1 (7)	0.00280	1.00000	2.312e-2	2.496e-2	
IMPG2-related recessive retinopathy	Retinitis pigmentosa	1	1	IMPG2 (6)	0.00280	1.00000	2.312e-2	2.496e-2	
GNAT2-related retinopathy	Retinitis pigmentosa	1	1	GNAT2 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
GNPTG-mucolipidosis	Retinitis pigmentosa	1	1	GNPTG (2)	0.00280	1.00000	2.312e-2	2.496e-2	
GPR179-related retinopathy	Retinitis pigmentosa	1	1	GPR179 (3)	0.00280	1.00000	2.312e-2	2.496e-2	
NYX-related retinopathy	Retinitis pigmentosa	1	1	NYX (3)	0.00280	1.00000	2.312e-2	2.496e-2	
optic atrophy 10 with or without ataxia, intellectual disability, and seizures	Retinitis pigmentosa	1	1	RTN4IP1 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
optic atrophy 3	Retinitis pigmentosa	1	1	OPA3 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
optic atrophy 9	Retinitis pigmentosa	1	1	ACO2 (2)	0.00280	1.00000	2.312e-2	2.496e-2	
ornithine aminotransferase deficiency	Retinitis pigmentosa	1	1	OAT (2)	0.00280	1.00000	2.312e-2	2.496e-2	7
PCARE-related retinopathy	Retinitis pigmentosa	1	1	PCARE (7)	0.00280	1.00000	2.312e-2	2.496e-2	7
PDE6A-related retinopathy	Retinitis pigmentosa	1	1	PDE6A (7)	0.00280	1.00000	2.312e-2	2.496e-2	
PDE6G-related retinopathy	Retinitis pigmentosa	1	1	PDE6G (6)	0.00280	1.00000	2.312e-2	2.496e-2	7
Familial danish dementia	Retinitis pigmentosa	1	1	ITM2B (2)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	Tritanopia	1	1	OPN1SW (3)	0.00280	1.00000	2.312e-2	2.496e-2	
Retinitis pigmentosa	TUBB4B-related ciliopathy	1	1	TUBB4B (2)	0.00280	1.00000	2.312e-2	2.496e-2	7
Retinitis pigmentosa	Usher syndrome type 3	1	1	CLRN1 (7)	0.00280	1.00000	2.312e-2	2.496e-2	
Auditory neuropathy with optic atrophy	Optic atrophy	1	1	FDXR (5)	0.00546	0.50000	2.337e-2	2.523e-2	
Biotinidase deficiency	Eczema	1	1	BTD (8)	0.00273	1.00000	2.370e-2	2.557e-2	
Birbeck granule deficiency	Eczema	1	1	CD207 (4)	0.00273	1.00000	2.370e-2	2.557e-2	
Cleft palate proliferative retinopathy developmental delay	Eczema	1	1	LRRC32 (4)	0.00273	1.00000	2.370e-2	2.557e-2	
Congenital microtia	Eczema	1	1	PRKRA (3)	0.00273	1.00000	2.370e-2	2.557e-2	
Eczema	Xy gonadal dysgenesis syndrome	1	1	PPP2R3C (2)	0.00273	1.00000	2.370e-2	2.557e-2	
Eczema	Intellectual developmental disorder neuropsychiatric	1	1	SLC45A1 (4)	0.00273	1.00000	2.370e-2	2.557e-2	14
Eczema	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	1	1	GATAD2B (2)	0.00273	1.00000	2.370e-2	2.557e-2	
Eczema	Juvenile absence epilepsy	1	1	EFHC1 (2)	0.00273	1.00000	2.370e-2	2.557e-2	
Eczema	KCND2-related neurodevelopmental disorder with or without seizures	1	1	KCND2 (2)	0.00273	1.00000	2.370e-2	2.557e-2	
Eczema	Prader-willi-like syndrome	1	1	CPE (2)	0.00273	1.00000	2.370e-2	2.557e-2	
Eczema	RCBTB1-related retinopathy	1	1	RCBTB1 (2)	0.00273	1.00000	2.370e-2	2.557e-2	
Eczema	NIK deficiency	1	1	MAP3K14 (2)	0.00273	1.00000	2.370e-2	2.557e-2	
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	Non-specific syndromic intellectual disability	1	1	TRAPPC4 (3)	0.00271	1.00000	2.390e-2	2.572e-2	6
neurodevelopmental disorder with or without seizures and gait abnormalities	Non-specific syndromic intellectual disability	1	1	GRIA4 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	Non-specific syndromic intellectual disability	1	1	MAPK8IP3 (3)	0.00271	1.00000	2.390e-2	2.572e-2	6
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	Non-specific syndromic intellectual disability	1	1	MED27 (3)	0.00271	1.00000	2.390e-2	2.572e-2	6
Non-specific syndromic intellectual disability	Parenti-mignot neurodevelopmental syndrome	1	1	CHD5 (5)	0.00271	1.00000	2.390e-2	2.572e-2	
Intellectual developmental disorder speech ambulation	Non-specific syndromic intellectual disability	1	1	ACTL6B (4)	0.00271	1.00000	2.390e-2	2.572e-2	
intellectual developmental disorder, autosomal dominant 65	Non-specific syndromic intellectual disability	1	1	KDM4B (3)	0.00271	1.00000	2.390e-2	2.572e-2	
KCND2-related neurodevelopmental disorder with or without seizures	Non-specific syndromic intellectual disability	1	1	KCND2 (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	Shukla-vernon syndrome	1	1	BCORL1 (5)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	1	1	SLC1A4 (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	stankiewicz-isidor syndrome	1	1	PSMD12 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	SYNCRIP-related neurodevelopmental disorder	1	1	SYNCRIP (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	Tessadori-Van Haaften neurodevelopmental syndrome 3	1	1	H4C5 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	Usmani-riazuddin syndrome	1	1	AP1G1 (5)	0.00271	1.00000	2.390e-2	2.572e-2	6
holoprosencephaly 12 with or without pancreatic agenesis	Non-specific syndromic intellectual disability	1	1	CNOT1 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Intellectual developmental disorder behavioral short stature	Non-specific syndromic intellectual disability	1	1	PUS7 (5)	0.00271	1.00000	2.390e-2	2.572e-2	6
Intellectual developmental disorder dysmorphic	Non-specific syndromic intellectual disability	1	1	POU3F3 (2)	0.00271	1.00000	2.390e-2	2.572e-2	6
Intellectual developmental disorder dysmorphic hypotonia	Non-specific syndromic intellectual disability	1	1	KMT5B (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Intellectual developmental disorder growth behavioral	Non-specific syndromic intellectual disability	1	0	PPP2R5D (1)	0.00271	1.00000	2.390e-2	2.572e-2	
Intellectual developmental disorder macrocephaly hypotonia behavioral	Non-specific syndromic intellectual disability	1	1	PPP2R5D (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Intellectual developmental disorder peripheral neuropathy	Non-specific syndromic intellectual disability	1	1	NUDT2 (5)	0.00271	1.00000	2.390e-2	2.572e-2	6
Intellectual developmental disorder seizures epilepsy	Non-specific syndromic intellectual disability	1	1	AP2M1 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Intellectual developmental disorder seizures language	Non-specific syndromic intellectual disability	1	1	SETD1B (3)	0.00271	1.00000	2.390e-2	2.572e-2	
multiple congenital anomalies-neurodevelopmental syndrome, x-linked	Non-specific syndromic intellectual disability	1	1	OTUD5 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	Non-specific syndromic intellectual disability	1	1	SHMT2 (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	PIP5K1C-related neurodevelopmental disorder	1	1	PIP5K1C (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Non-specific syndromic intellectual disability	radio-tartaglia syndrome	1	1	SPEN (2)	0.00271	1.00000	2.390e-2	2.572e-2	
hereditary fructose intolerance	Non-specific syndromic intellectual disability	1	1	ALDOB (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Hereditary sensory and autonomic neuropathy with spastic paraplegia	Non-specific syndromic intellectual disability	1	1	CCT5 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Dworschak-punetha neurodevelopmental syndrome	Non-specific syndromic intellectual disability	1	1	PLXNA1 (4)	0.00271	1.00000	2.390e-2	2.572e-2	6
floating-harbor syndrome	Non-specific syndromic intellectual disability	1	1	SRCAP (3)	0.00271	1.00000	2.390e-2	2.572e-2	
CTR9-related neurodevelopmental disorder	Non-specific syndromic intellectual disability	1	1	CTR9 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Bafopathy	Non-specific syndromic intellectual disability	1	1	ACTL6A (3)	0.00271	1.00000	2.390e-2	2.572e-2	
1q44 microdeletion syndrome	Non-specific syndromic intellectual disability	1	1	HNRNPU (2)	0.00271	1.00000	2.390e-2	2.572e-2	6
ACTL6A-related BAFopathy	Non-specific syndromic intellectual disability	1	1	ACTL6A (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Deeah syndrome	Non-specific syndromic intellectual disability	1	1	MADD (4)	0.00271	1.00000	2.390e-2	2.572e-2	
Degcags syndrome	Non-specific syndromic intellectual disability	1	1	ZNF699 (4)	0.00271	1.00000	2.390e-2	2.572e-2	
Dentici novelli neurodevelopmental syndrome	Non-specific syndromic intellectual disability	1	1	ZNF526 (4)	0.00271	1.00000	2.390e-2	2.572e-2	
Developmental delay with behavioral abnormalities	Non-specific syndromic intellectual disability	1	1	ADGRL1 (5)	0.00271	1.00000	2.390e-2	2.572e-2	
Developmental delay with hypotonia and behavioral abnormalities	Non-specific syndromic intellectual disability	1	1	SRCAP (5)	0.00271	1.00000	2.390e-2	2.572e-2	
Developmental delay with variable neurological abnormalities	Non-specific syndromic intellectual disability	1	1	LMBRD2 (5)	0.00271	1.00000	2.390e-2	2.572e-2	
developmental delay, impaired speech, and behavioral abnormalities	Non-specific syndromic intellectual disability	1	1	SPTBN1 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
dowling-degos disease 2	Non-specific syndromic intellectual disability	1	1	POFUT1 (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Clark-baraitser syndrome	Non-specific syndromic intellectual disability	1	1	TRIP12 (4)	0.00271	1.00000	2.390e-2	2.572e-2	6
Congenital corneal opacity	Non-specific syndromic intellectual disability	1	0	ZFHX4 (1)	0.00271	1.00000	2.390e-2	2.572e-2	
congenital disorder of deglycosylation 2	Non-specific syndromic intellectual disability	1	1	MAN2C1 (3)	0.00271	1.00000	2.390e-2	2.572e-2	
Cardiofacio-neurodevelopmental syndrome	Non-specific syndromic intellectual disability	1	1	CCDC32 (5)	0.00271	1.00000	2.390e-2	2.572e-2	
Chopra-amiel-gordon syndrome	Non-specific syndromic intellectual disability	1	1	ANKRD17 (5)	0.00271	1.00000	2.390e-2	2.572e-2	
Chromosome 1q deletion syndrome	Non-specific syndromic intellectual disability	1	1	ZBTB18 (2)	0.00271	1.00000	2.390e-2	2.572e-2	
Chromosome 1q43-q44 deletion syndrome	Non-specific syndromic intellectual disability	1	0	ZBTB18 (1)	0.00271	1.00000	2.390e-2	2.572e-2	
Brunet-wagner neurodevelopmental syndrome	Non-specific syndromic intellectual disability	1	1	RBL2 (4)	0.00271	1.00000	2.390e-2	2.572e-2	
Beta-hexosaminidase a deficiency	Global developmental delay	1	0	HEXA (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Brainstem dysplasia	Global developmental delay	1	0	SMG9 (1)	0.00270	1.00000	2.403e-2	2.577e-2	6
bryant-li-bhoj neurodevelopmental syndrome 1	Global developmental delay	1	1	H3-3A (2)	0.00270	1.00000	2.403e-2	2.577e-2	
ACTL6A-related BAFopathy	Global developmental delay	1	1	ACTL6A (2)	0.00270	1.00000	2.403e-2	2.577e-2	
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	Global developmental delay	1	1	ADNP (2)	0.00270	1.00000	2.403e-2	2.577e-2	
agammaglobulinemia 10, autosomal dominant	Open angle glaucoma	1	1	SPI1 (2)	0.00270	1.00000	2.396e-2	2.577e-2	
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	Global developmental delay	1	1	AHDC1 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Al kaissi syndrome	Global developmental delay	1	1	CDK10 (2)	0.00270	1.00000	2.403e-2	2.577e-2	6
Alazami-yuan syndrome	Global developmental delay	1	0	TAF6 (1)	0.00270	1.00000	2.403e-2	2.577e-2	
amyotrophic lateral sclerosis type 23	Open angle glaucoma	1	1	ANXA11 (2)	0.00270	1.00000	2.396e-2	2.577e-2	
Congenital heart defect, intellectual disability, facial dysmorphism syndrome	Global developmental delay	1	0	CDK13 (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Contiguous abcd1-dxs1375e deletion syndrome	Global developmental delay	1	1	BCAP31 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
autosomal recessive spinocerebellar ataxia 20	Global developmental delay	1	1	SNX14 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Bafopathy	Global developmental delay	1	1	ACTL6A (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Bartter disease type 5	Global developmental delay	1	1	MAGED2 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
basilicata-akhtar syndrome	Global developmental delay	1	1	MSL3 (2)	0.00270	1.00000	2.403e-2	2.577e-2	6
Chondroblastoma	Global developmental delay	1	1	H3-3B (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Cutis marmorata	Global developmental delay	1	0	TPP2 (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Deeah syndrome	Open angle glaucoma	1	1	MADD (4)	0.00270	1.00000	2.396e-2	2.577e-2	
developmental and epileptic encephalopathy, 77	Global developmental delay	1	1	PIGQ (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Developmental delay with behavioral abnormalities	Global developmental delay	1	1	ADGRL1 (4)	0.00270	1.00000	2.403e-2	2.577e-2	
developmental delay, impaired speech, and behavioral abnormalities	Open angle glaucoma	1	1	SPTBN1 (2)	0.00270	1.00000	2.396e-2	2.577e-2	
Cleft palate proliferative retinopathy developmental delay	Global developmental delay	1	1	LRRC32 (3)	0.00270	1.00000	2.403e-2	2.577e-2	
Combined malonic and methylmalonic acidemia	Global developmental delay	1	1	ACSF3 (5)	0.00270	1.00000	2.403e-2	2.577e-2	
Combined malonic and methylmalonic aciduria	Global developmental delay	1	1	ACSF3 (3)	0.00270	1.00000	2.403e-2	2.577e-2	
congenital disorder of deglycosylation 1	Global developmental delay	1	1	NGLY1 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Focal dermal hypoplasia	Global developmental delay	1	1	PORCN (7)	0.00270	1.00000	2.403e-2	2.577e-2	
frontorhiny	Open angle glaucoma	1	1	ALX3 (2)	0.00270	1.00000	2.396e-2	2.577e-2	
Global developmental delay	Hoxha-aliu syndrome	1	1	ERI1 (3)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	1	1	UNC80 (2)	0.00270	1.00000	2.403e-2	2.577e-2	6
Global developmental delay	immunodeficiency 78 with autoimmunity and developmental delay	1	1	TPP2 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Inflammatory demyelinating polyneuropathy	Open angle glaucoma	1	0	CNBD1 (1)	0.00270	1.00000	2.396e-2	2.577e-2	
Global developmental delay	Intellectual developmental disorder dysmorphic hypotonia	1	1	KMT5B (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Intellectual developmental disorder dysmorphic ocular	1	1	MTSS2 (3)	0.00270	1.00000	2.403e-2	2.577e-2	6
Global developmental delay	Intellectual developmental disorder growth behavioral	1	0	PPP2R5D (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Intellectual developmental disorder macrocephaly hypotonia behavioral	1	1	PPP2R5D (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	schuurs-hoeijmakers syndrome	1	1	PACS1 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	seckel syndrome 10	1	1	NSMCE2 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Sensorineural hearing loss-spastic quadriplegia–intellectual disability	1	1	AFG2B (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	1	1	BCAP31 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Shukla-vernon syndrome	1	1	BCORL1 (4)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	SMARCC1-associated developmental dysgenesis syndrome	1	1	SMARCC1 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	thrombocytopenia-absent radius syndrome	1	1	RBM8A (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	neurodevelopmental disorder with hypotonia, neuropathy, and deafness	1	1	SPTBN4 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	1	1	MAPK8IP3 (2)	0.00270	1.00000	2.403e-2	2.577e-2	6
Global developmental delay	neurodevelopmental disorder with severe motor impairment and absent language	1	1	DHX30 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Open angle glaucoma	1	1	TNR (2)	0.00270	1.00000	2.396e-2	2.577e-2	
Niemann-Pick disease, type C2	Open angle glaucoma	1	1	NPC2 (2)	0.00270	1.00000	2.396e-2	2.577e-2	
Global developmental delay	Niemann-Pick disease, type C2	1	1	NPC2 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	optic atrophy 10 with or without ataxia, intellectual disability, and seizures	1	1	RTN4IP1 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Otofacial neurodevelopmental syndrome	1	1	ZSCAN10 (4)	0.00270	1.00000	2.403e-2	2.577e-2	6
Global developmental delay	Parenti-mignot neurodevelopmental syndrome	1	1	CHD5 (4)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Intellectual developmental disorder speech ambulation	1	1	ACTL6B (3)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Kidney atrophy	1	0	C12orf57 (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	tyrosinemia type III	1	1	HPD (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	X-linked hereditary motor and sensory neuropathy	1	0	DRP2 (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	X-linked intellectual disability, Cabezas type	1	1	CUL4B (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Xia-gibbs syndrome	1	1	AHDC1 (3)	0.00270	1.00000	2.403e-2	2.577e-2	
Genetic syndromic pierre robin syndrome	Global developmental delay	1	0	EFTUD2 (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Giant cell tumor of bone	Global developmental delay	1	1	H3-3A (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	1	1	IARS1 (4)	0.00270	1.00000	2.403e-2	2.577e-2	6
Global developmental delay	hawkinsinuria	1	1	HPD (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	hearing loss, autosomal recessive 119	1	1	AFG2B (2)	0.00270	1.00000	2.403e-2	2.577e-2	
hearing loss, autosomal recessive 120	Open angle glaucoma	1	1	MINAR2 (2)	0.00270	1.00000	2.396e-2	2.577e-2	
Global developmental delay	Helsmoortel-van der aa syndrome	1	1	ADNP (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Hemiparkinsonism hemiatrophy syndrome	1	0	H3-3B (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	mandibulofacial dysostosis-microcephaly syndrome	1	1	EFTUD2 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	MGAT2-congenital disorder of glycosylation	1	1	MGAT2 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	neurodegeneration, childhood-onset, with cerebellar atrophy	1	1	AGTPBP1 (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	neurodegenerative disease	1	1	IRF2BPL (2)	0.00270	1.00000	2.403e-2	2.577e-2	
Global developmental delay	Regressive neurodevelopmental disorder dystonia seizures	1	0	IRF2BPL (1)	0.00270	1.00000	2.403e-2	2.577e-2	
Open angle glaucoma	Rothmund-Thomson syndrome type 1	1	1	ANAPC1 (2)	0.00270	1.00000	2.396e-2	2.577e-2	
Hypothyroidism	Thrombocytopenia with anemia and myelofibrosis	1	1	MPIG6B (6)	0.00267	1.00000	2.429e-2	2.603e-2	
Hypothyroidism	thrombocytopenia, anemia, and myelofibrosis	1	1	MPIG6B (2)	0.00267	1.00000	2.429e-2	2.603e-2	
Hypothyroidism	Intellectual developmental disorder growth microcephaly	1	1	CTCF (2)	0.00267	1.00000	2.429e-2	2.603e-2	
Hypothyroidism	Midline facial cleft	1	1	PCSK7 (2)	0.00267	1.00000	2.429e-2	2.603e-2	47
Hypothyroidism	Winkelman bethge pfeiffer syndrome	1	1	LHX3 (4)	0.00267	1.00000	2.429e-2	2.603e-2	
Genetic transient congenital hypothyroidism	Hypothyroidism	1	1	DUOX2 (3)	0.00267	1.00000	2.429e-2	2.603e-2	
Congenital primary lymphedema of gordon	Hypothyroidism	1	1	VEGFC (3)	0.00267	1.00000	2.429e-2	2.603e-2	
Allan-herndon-dudley syndrome	Hypothyroidism	1	1	SLC16A2 (4)	0.00267	1.00000	2.429e-2	2.603e-2	
Endometriosis	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	1	1	POLR2A (2)	0.00265	1.00000	2.442e-2	2.617e-2	
Endometriosis	Parathyroid carcinoma	1	1	CDC73 (4)	0.00265	1.00000	2.442e-2	2.617e-2	
Endometriosis	Parathyroid neoplasm	1	1	CDC73 (3)	0.00265	1.00000	2.442e-2	2.617e-2	
Endometriosis	hyperparathyroidism 2 with jaw tumors	1	1	CDC73 (2)	0.00265	1.00000	2.442e-2	2.617e-2	
Endometriosis	methemoglobinemia type 4	1	1	CYB5A (3)	0.00265	1.00000	2.442e-2	2.617e-2	
Cerebral atherosclerosis	Esophageal atresia	1	1	TENT5A (2)	0.02273	0.08333	2.466e-2	2.643e-2	
Angiokeratoma	Vascular dementia	1	0	KRIT1 (1)	0.00763	0.33333	2.473e-2	2.650e-2	
Peripheral neuropathy	Trichotillomania	1	1	SLITRK1 (5)	0.00515	0.50000	2.478e-2	2.655e-2	
Peripheral neuropathy	Urofacial syndrome	1	1	HPSE2 (5)	0.00515	0.50000	2.478e-2	2.655e-2	
Ochoa syndrome	Peripheral neuropathy	1	1	HPSE2 (2)	0.00515	0.50000	2.478e-2	2.655e-2	
Celiac disease	Degenerative polyarthritis	1	1	TLR8 (2)	0.00513	0.50000	2.491e-2	2.669e-2	
Cerebral artery occlusion	Esophageal squamous cell carcinoma	1	1	ADCYAP1 (2)	0.00758	0.33333	2.492e-2	2.670e-2	
Contiguous abcd1-dxs1375e deletion syndrome	Hearing loss	1	1	BCAP31 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Beta-hexosaminidase a deficiency	Hearing loss	1	0	HEXA (1)	0.00258	1.00000	2.513e-2	2.689e-2	
Bilateral microtia with deafness and cleft palate syndrome	Hearing loss	1	1	HOXA2 (4)	0.00258	1.00000	2.513e-2	2.689e-2	
brown-vialetto-van laere syndrome 2	Hearing loss	1	1	SLC52A2 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Congenital cerebellar hypoplasia	Hearing loss	1	1	OXR1 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
autosomal recessive nonsyndromic hearing loss 102	Hearing loss	1	1	EPS8 (2)	0.00258	1.00000	2.513e-2	2.689e-2	31
BBS2-related ciliopathy	Hearing loss	1	1	BBS2 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	neurodevelopmental disorder with severe motor impairment and absent language	1	1	DHX30 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	Osteootohepatoenteric syndrome	1	1	UNC45A (4)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	Otofacial neurodevelopmental syndrome	1	1	ZSCAN10 (4)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	hearing loss, autosomal recessive 115	1	1	SPNS2 (4)	0.00258	1.00000	2.513e-2	2.689e-2	31
Hearing loss	hearing loss, autosomal recessive 116	1	1	CLDN9 (4)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	hearing loss, autosomal recessive 120	1	1	MINAR2 (3)	0.00258	1.00000	2.513e-2	2.689e-2	31
Hearing loss	HELIOS deficiency	1	1	IKZF2 (3)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	perrault syndrome 2	1	1	HARS2 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	PHARC syndrome	1	1	ABHD12 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	purine nucleoside phosphorylase deficiency	1	1	PNP (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	1	1	BCAP31 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	Sterol carrier protein 2 deficiency	1	1	SCP2 (4)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	thrombotic disease	1	1	MAST2 (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	treacher collins syndrome 2	1	1	POLR1D (2)	0.00258	1.00000	2.513e-2	2.689e-2	
Hearing loss	Worster drought syndrome	1	1	TMTC4 (2)	0.00258	1.00000	2.513e-2	2.689e-2	31
Hearing loss	Microtia	1	1	HOXA2 (3)	0.00258	1.00000	2.513e-2	2.689e-2	
methylmalonate semialdehyde dehydrogenase deficiency	Myocardial ischemia	1	1	ALDH6A1 (3)	0.00255	1.00000	2.539e-2	2.715e-2	
Myocardial ischemia	PGM1-congenital disorder of glycosylation	1	1	PGM1 (3)	0.00255	1.00000	2.539e-2	2.715e-2	
Myocardial ischemia	polyglucosan body myopathy type 2	1	1	GYG1 (3)	0.00255	1.00000	2.539e-2	2.715e-2	
Myocardial ischemia	RAB23-related Carpenter syndrome	1	1	RAB23 (2)	0.00255	1.00000	2.539e-2	2.715e-2	
Myocardial ischemia	neurodevelopmental disorder with microcephaly, ataxia, and seizures	1	1	SARS1 (2)	0.00255	1.00000	2.539e-2	2.715e-2	
long chain 3-hydroxyacyl-coa dehydrogenase deficiency	Myocardial ischemia	1	1	HADHA (3)	0.00255	1.00000	2.539e-2	2.715e-2	
Glycerol kinase deficiency	Myocardial ischemia	1	1	GK (2)	0.00255	1.00000	2.539e-2	2.715e-2	
Hmg-coa synthase deficiency	Myocardial ischemia	1	1	HMGCS2 (3)	0.00255	1.00000	2.539e-2	2.715e-2	
hypotaurinemic retinal degeneration and cardiomyopathy	Myocardial ischemia	1	1	SLC6A6 (3)	0.00255	1.00000	2.539e-2	2.715e-2	
inborn glycerol kinase deficiency	Myocardial ischemia	1	1	GK (3)	0.00255	1.00000	2.539e-2	2.715e-2	
Cytosolic acetoacetyl-coa thiolase deficiency	Myocardial ischemia	1	1	ACAT2 (2)	0.00255	1.00000	2.539e-2	2.715e-2	
Developmental delay due to metabolic enzyme deficiency	Myocardial ischemia	1	1	ALDH6A1 (3)	0.00255	1.00000	2.539e-2	2.715e-2	
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	Myocardial ischemia	1	1	HMGCS2 (3)	0.00255	1.00000	2.539e-2	2.715e-2	
Advanced sleep phase syndrome	Irritable bowel syndrome	1	1	PER2 (4)	0.00730	0.33333	2.588e-2	2.767e-2	
Intellectual developmental disorder dysmorphic facial	Irritable bowel syndrome	1	1	SETD5 (2)	0.00730	0.33333	2.588e-2	2.767e-2	
Cataract	Congenital lamellar cataract	1	1	HSF4 (5)	0.00493	0.50000	2.594e-2	2.773e-2	51
Candle syndrome	Iga nephropathy	1	1	PSMB8 (2)	0.00488	0.50000	2.619e-2	2.800e-2	
Intellectual developmental disorder dysmorphic ptosis	Post-traumatic stress disorder	1	1	RPL10L (2)	0.00488	0.50000	2.619e-2	2.800e-2	
Fructokinase deficiency	Post-traumatic stress disorder	1	1	CGREF1 (2)	0.00488	0.50000	2.619e-2	2.800e-2	
Migraine	protoporphyria, erythropoietic, 1	1	1	FECH (2)	0.00247	1.00000	2.624e-2	2.803e-2	
Migraine	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	1	1	POLR2A (2)	0.00247	1.00000	2.624e-2	2.803e-2	
Intellectual developmental disorder neuropsychiatric	Migraine	1	1	SLC45A1 (4)	0.00247	1.00000	2.624e-2	2.803e-2	
Migraine	Weiss-kruszka syndrome	1	1	ZNF462 (5)	0.00247	1.00000	2.624e-2	2.803e-2	
Migraine	severe combined immunodeficiency due to DCLRE1C deficiency	1	1	DCLRE1C (2)	0.00247	1.00000	2.624e-2	2.803e-2	
Migraine	T-cell immunodeficiency	1	1	FOXI3 (2)	0.00247	1.00000	2.624e-2	2.803e-2	
Migraine	Trichilemmal cyst	1	1	BPIFC (3)	0.00247	1.00000	2.624e-2	2.803e-2	34
Catatonia	Migraine	1	1	CHRM4 (3)	0.00247	1.00000	2.624e-2	2.803e-2	
agammaglobulinemia 2, autosomal recessive	Migraine	1	1	IGLL1 (2)	0.00247	1.00000	2.624e-2	2.803e-2	
Deeah syndrome	Migraine	1	1	MADD (4)	0.00247	1.00000	2.624e-2	2.803e-2	
Androgenetic alopecia	Catifa syndrome	1	1	RIC1 (5)	0.00244	1.00000	2.650e-2	2.828e-2	
16p13.2 microdeletion syndrome	Androgenetic alopecia	1	1	USP7 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Absence of fingerprints-congenital milia syndrome	Androgenetic alopecia	1	0	SMARCAD1 (1)	0.00244	1.00000	2.650e-2	2.828e-2	
amyotrophic lateral sclerosis type 15	Androgenetic alopecia	1	1	UBQLN2 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	Combined oxidative phosphorylation defect	1	1	WARS2 (3)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	bamforth-lazarus syndrome	1	1	FOXE1 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	scalp-ear-nipple syndrome	1	1	KCTD1 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	1	1	EXT2 (5)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	1	1	GATAD2B (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	syndromic multisystem autoimmune disease due to ITCH deficiency	1	1	ITCH (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	Perlman syndrome	1	1	DIS3L2 (5)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	Retrograde amnesia	1	1	PREP (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	Rhizomelic limb shortening with dysmorphic features	1	1	PKDCC (5)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	RNASEH2C-related type 1 interferonopathy	1	1	RNASEH2C (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	isovaleric acidemia	1	1	IVD (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	1	1	EDAR (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	episodic ataxia type 6	1	1	SLC1A3 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	exostoses, multiple, type 2	1	1	EXT2 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	mandibuloacral dysplasia progeroid syndrome	1	1	MTX2 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	maple syrup urine disease type 1A	1	1	BCKDHA (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	hao-fountain syndrome	1	1	USP7 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	Weiss-kruszka syndrome	1	1	ZNF462 (5)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	hypomyelinating leukodystrophy 3	1	1	AIMP1 (2)	0.00244	1.00000	2.650e-2	2.828e-2	
Androgenetic alopecia	Intellectual developmental disorder growth metabolic	1	1	DIP2B (3)	0.00244	1.00000	2.650e-2	2.828e-2	
Renal cell carcinoma	X-linked syndromic complex neurodevelopmental disorder	1	1	TFE3 (2)	0.00704	0.33333	2.684e-2	2.864e-2	
3m syndrome	Renal cell carcinoma	1	1	CUL7 (5)	0.00704	0.33333	2.684e-2	2.864e-2	
Hyperlipidemia	Salt-sensitive hypertension	1	0	ADD1 (1)	0.00694	0.33333	2.722e-2	2.905e-2	
Kidney disease	polycystic kidney disease 3 with or without polycystic liver disease	1	1	GANAB (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	RD3-related retinopathy	1	1	RD3 (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	renal-hepatic-pancreatic dysplasia 2	1	1	NEK8 (3)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	membranoproliferative glomerulonephritis	1	1	DGKE (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	nephronophthisis 7	1	1	GLIS2 (3)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	nephronophthisis-like nephropathy 1	1	1	XPNPEP3 (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	nephrotic syndrome, type 8	1	1	ARHGDIA (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	spinocerebellar ataxia, autosomal recessive 28	1	1	THG1L (3)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	Transaldolase deficiency	1	1	TALDO1 (6)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	kidney disorder	1	1	SLC41A1 (3)	0.00235	1.00000	2.760e-2	2.942e-2	
fanconi renotubular syndrome 3	Kidney disease	1	1	EHHADH (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Intellectual developmental disorder dysmorphic facial hearing joint	Kidney disease	1	1	TET3 (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	Neurooculocardio-genitourinary syndrome	1	1	WDR37 (6)	0.00235	1.00000	2.760e-2	2.942e-2	
Kidney disease	Peho-like syndrome	1	1	CCDC88A (5)	0.00235	1.00000	2.760e-2	2.942e-2	73
glycogen storage disease III	Kidney disease	1	1	AGL (2)	0.00235	1.00000	2.760e-2	2.942e-2	
agammaglobulinemia 10, autosomal dominant	Kidney disease	1	1	SPI1 (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Aica-ribosiduria	Kidney disease	1	1	ATIC (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Deeah syndrome	Kidney disease	1	1	MADD (4)	0.00235	1.00000	2.760e-2	2.942e-2	
Arthrogryposis with neurodevelopmental impairment and seizures	Kidney disease	1	1	SLC35A3 (4)	0.00235	1.00000	2.760e-2	2.942e-2	
atypical hemolytic-uremic syndrome with DGKE deficiency	Kidney disease	1	1	DGKE (2)	0.00235	1.00000	2.760e-2	2.942e-2	
Beck-fahrner syndrome	Kidney disease	1	1	TET3 (6)	0.00235	1.00000	2.760e-2	2.942e-2	
3-hydroxyisobutyric aciduria	Cardiovascular disease	1	1	HIBADH (3)	0.00231	1.00000	2.806e-2	2.989e-2	
ALG9-associated autosomal dominant polycystic kidney disease	Cardiovascular disease	1	1	ALG9 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	Corneal degeneration	1	0	RDH8 (1)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	glycogen storage disease due to muscle and heart glycogen synthase deficiency	1	1	GYS1 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	GM3 synthase deficiency	1	1	ST3GAL5 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	johanson-blizzard syndrome	1	1	UBR1 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	Midline facial cleft	1	1	PCSK7 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	primary ciliary dyskinesia 23	1	1	ODAD2 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	Salt and pepper developmental regression syndrome	1	1	ST3GAL5 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	Osteomalacia	1	1	MEPE (3)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	familial hemophagocytic lymphohistiocytosis 3	1	1	UNC13D (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	hyperphosphatasia with intellectual disability syndrome 4	1	1	PGAP3 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Cardiovascular disease	inherited blood coagulation disorder	1	1	APOLD1 (2)	0.00231	1.00000	2.806e-2	2.989e-2	
Gastric cancer	Sarcoglycanopathies	1	1	SGCG (2)	0.00455	0.50000	2.812e-2	2.995e-2	
Gm2 gangliosidosis	Psychiatric disorders	1	1	GM2A (3)	0.00452	0.50000	2.824e-2	3.005e-2	
Griscelli syndrome type 2	Melanoma	1	1	RAB27A (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Neurotic disorder	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	1	1	SLC30A9 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Melanoma	Rufous oculocutaneous albinism	1	1	TYRP1 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
meier-gorlin syndrome 2	Neurotic disorder	1	1	ORC4 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
lesch-nyhan syndrome	Neurotic disorder	1	1	HPRT1 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Melanoma	Spastic ataxia optic atrophy dysarthria syndrome	1	1	MTPAP (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Neurotic disorder	syndromic multisystem autoimmune disease due to ITCH deficiency	1	1	ITCH (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Hoxha-aliu syndrome	Neurotic disorder	1	1	ERI1 (4)	0.00229	1.00000	2.825e-2	3.005e-2	
hypomyelinating leukodystrophy 13	Melanoma	1	1	HIKESHI (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Erythrocyte amp deaminase deficiency	Melanoma	1	1	AMPD3 (5)	0.00229	1.00000	2.825e-2	3.005e-2	
erythrokeratodermia variabilis et progressiva 4	Melanoma	1	1	KDSR (2)	0.00229	1.00000	2.825e-2	3.005e-2	
free sialic acid storage disease	Melanoma	1	1	SLC17A5 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Neurotic disorder	Neutrophilic leukemia	1	1	CSF3R (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Neurotic disorder	Oculocerebrofacial syndrome	1	1	UBE3B (4)	0.00229	1.00000	2.825e-2	3.005e-2	
Neurotic disorder	oculocerebrofacial syndrome, Kaufman type	1	1	UBE3B (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Neurotic disorder	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	1	1	HPRT1 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Congenital primary lymphedema of gordon	Melanoma	1	1	VEGFC (3)	0.00229	1.00000	2.825e-2	3.005e-2	
Al kaissi syndrome	Melanoma	1	0	CDK10 (1)	0.00229	1.00000	2.825e-2	3.005e-2	
amyotrophic lateral sclerosis type 15	Neurotic disorder	1	1	UBQLN2 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
auriculocondylar syndrome 2	Melanoma	1	1	PLCB4 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Autosomal recessive hypomyelinating leukodystrophy	Melanoma	1	1	HIKESHI (4)	0.00229	1.00000	2.825e-2	3.005e-2	
autosomal recessive optic atrophy, OPA7 type	Melanoma	1	1	TMEM126A (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Bartter disease type 5	Neurotic disorder	1	1	MAGED2 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Birk-landau-perez syndrome	Neurotic disorder	1	1	SLC30A9 (3)	0.00229	1.00000	2.825e-2	3.005e-2	
Cystathioninuria	Melanoma	1	1	CTH (7)	0.00229	1.00000	2.825e-2	3.005e-2	
Desmosterolosis	Melanoma	1	1	DHCR24 (8)	0.00229	1.00000	2.825e-2	3.005e-2	
dilated cardiomyopathy 1V	Melanoma	1	1	PSEN2 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
ciliary dyskinesia, primary, 45	Neurotic disorder	1	1	TTC12 (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Congenital cerebellar hypoplasia	Neurotic disorder	1	1	OXR1 (3)	0.00229	1.00000	2.825e-2	3.005e-2	
congenital dyserythropoietic anemia type 2	Neurotic disorder	1	1	SEC23B (2)	0.00229	1.00000	2.825e-2	3.005e-2	
Amelocerebrohypohidrotic syndrome	Developmental and epileptic encephalopathy	1	1	SLC13A5 (7)	0.00450	0.50000	2.837e-2	3.018e-2	
Central hypoventilation syndrome	Neuroblastoma	1	1	PHOX2B (7)	0.00649	0.33333	2.913e-2	3.099e-2	
Appendiceal disorder	Premature ovarian failure	1	1	MND1 (2)	0.00847	0.25000	2.929e-2	3.115e-2	
Ileocolitis	Ocular sarcoidosis	1	0	MAGI1 (1)	0.01515	0.12500	2.975e-2	3.164e-2	
Dental caries	Intestinal vascular insufficiency	1	0	NEDD9 (1)	0.00429	0.50000	2.978e-2	3.167e-2	
Dental caries	Smith-mccort dysplasia	1	1	DYM (6)	0.00429	0.50000	2.978e-2	3.167e-2	
Candle syndrome	Dental caries	1	1	PSMB8 (2)	0.00429	0.50000	2.978e-2	3.167e-2	
Congenital stromal corneal dystrophy	Epilepsy	1	1	SPARCL1 (3)	0.00426	0.50000	3.004e-2	3.194e-2	
Epilepsy	Lewis lung carcinoma	1	1	TXNRD1 (2)	0.00426	0.50000	3.004e-2	3.194e-2	
Obsessive-compulsive disorder	Trichotillomania	1	1	HOXB8 (2)	0.00424	0.50000	3.016e-2	3.207e-2	
Butyryl-coa dehydrogenase deficiency	Obsessive-compulsive disorder	1	1	ACADS (3)	0.00424	0.50000	3.016e-2	3.207e-2	
CTR9-related neurodevelopmental disorder	Ovarian cancer	1	1	CTR9 (2)	0.00214	1.00000	3.026e-2	3.216e-2	
ciliary dyskinesia, primary, 42	Ovarian cancer	1	1	MCIDAS (2)	0.00214	1.00000	3.026e-2	3.216e-2	
ciliary dyskinesia, primary, 53	Ovarian cancer	1	1	CLXN (2)	0.00214	1.00000	3.026e-2	3.216e-2	
BARD1-related cancer predisposition	Ovarian cancer	1	0	BARD1 (1)	0.00214	1.00000	3.026e-2	3.216e-2	
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Ovarian cancer	1	1	PDSS1 (4)	0.00214	1.00000	3.026e-2	3.216e-2	
12q15q21 microdeletion syndrome	Ovarian cancer	1	1	CNOT2 (3)	0.00214	1.00000	3.026e-2	3.216e-2	
Intellectual developmental disorder dysmorphic skeletal	Ovarian cancer	1	1	CNOT2 (4)	0.00214	1.00000	3.026e-2	3.216e-2	
Intellectual developmental disorder dysmorphic speech skeletal	Ovarian cancer	1	1	CNOT2 (2)	0.00214	1.00000	3.026e-2	3.216e-2	
Ovarian cancer	Riboflavin deficiency	1	1	SLC52A1 (4)	0.00214	1.00000	3.026e-2	3.216e-2	
maternal riboflavin deficiency	Ovarian cancer	1	1	SLC52A1 (2)	0.00214	1.00000	3.026e-2	3.216e-2	
fanconi anemia complementation group e	Ovarian cancer	1	1	FANCE (2)	0.00214	1.00000	3.026e-2	3.216e-2	
fontaine progeroid syndrome	Heart failure	1	1	SLC25A24 (2)	0.00212	1.00000	3.052e-2	3.242e-2	
Heart failure	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	1	1	PHIP (2)	0.00212	1.00000	3.052e-2	3.242e-2	
Heart failure	phosphoenolpyruvate carboxykinase deficiency, cytosolic	1	1	PCK1 (3)	0.00212	1.00000	3.052e-2	3.242e-2	34
Heart failure	pseudohypoaldosteronism type 2D	1	1	KLHL3 (2)	0.00212	1.00000	3.052e-2	3.242e-2	
Heart failure	Yoon-bellen neurodevelopmental syndrome	1	1	OGDHL (4)	0.00212	1.00000	3.052e-2	3.242e-2	34
Acetyl-coa carboxylase deficiency	Heart failure	1	1	ACACA (3)	0.00212	1.00000	3.052e-2	3.242e-2	
Congenital right-sided heart lesions	Heart failure	1	0	SLC27A6 (1)	0.00212	1.00000	3.052e-2	3.242e-2	
Developmental delay with intellectual disability and obesity	Heart failure	1	1	PHIP (2)	0.00212	1.00000	3.052e-2	3.242e-2	
Chung-jansen syndrome	Heart failure	1	1	PHIP (2)	0.00212	1.00000	3.052e-2	3.242e-2	
Diabetes mellitus type 1	Diaphanospondylodysostosis	1	1	BMPER (6)	0.00209	1.00000	3.098e-2	3.288e-2	
apparent mineralocorticoid excess	Diabetes mellitus type 1	1	1	HSD11B2 (3)	0.00209	1.00000	3.098e-2	3.288e-2	
autoimmune polyendocrine syndrome type 1	Diabetes mellitus type 1	1	1	AIRE (2)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	PGM1-congenital disorder of glycosylation	1	1	PGM1 (2)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	intellectual developmental disorder with speech delay and axonal peripheral neuropathy	1	1	NEMF (2)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	hyperphosphatasia with intellectual disability syndrome 4	1	1	PGAP3 (2)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	Intellectual developmental disorder neuropsychiatric	1	1	SLC45A1 (4)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	MAN1B1-congenital disorder of glycosylation	1	1	MAN1B1 (2)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	maturity-onset diabetes of the young type 8	1	1	CEL (3)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	Mineralocortocoid excess	1	1	HSD11B2 (7)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	NIK deficiency	1	1	MAP3K14 (2)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	Pemphigus foliaceus	1	1	RAN (2)	0.00209	1.00000	3.098e-2	3.288e-2	
Diabetes mellitus type 1	Thoracic malformation	1	1	FGF4 (3)	0.00209	1.00000	3.098e-2	3.288e-2	
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Mitochondrial disease	1	1	LIPT2 (3)	0.00410	0.50000	3.119e-2	3.310e-2	
Mitochondrial disease	Sandhoff disease	1	0	GFM2 (1)	0.00410	0.50000	3.119e-2	3.310e-2	62
3-methylcrotonyl-coa carboxylase deficiency	Mitochondrial disease	1	1	MCCC2 (4)	0.00410	0.50000	3.119e-2	3.310e-2	
Cardiomyopathy	Congenital chronic diarrhea with protein-losing enteropathy	1	1	DGAT1 (2)	0.00407	0.50000	3.144e-2	3.337e-2	
Nephropathic cystinosis	Nephrotic syndrome	1	1	CTNS (5)	0.00592	0.33333	3.200e-2	3.395e-2	
Mountain sickness	Pancreatic cancer	1	0	TACC1 (1)	0.00395	0.50000	3.234e-2	3.431e-2	
Pancreatic cancer	Trichotillomania	1	1	SLITRK1 (5)	0.00395	0.50000	3.234e-2	3.431e-2	
Kidney failure	Sandhoff disease	1	1	HEXB (7)	0.00395	0.50000	3.234e-2	3.431e-2	
Anorexia nervosa	Butyryl-coa dehydrogenase deficiency	1	1	ACADS (3)	0.00395	0.50000	3.234e-2	3.431e-2	
Lewis lung carcinoma	Lung neoplasms	1	0	LECT2 (1)	0.00391	0.50000	3.272e-2	3.471e-2	
Tourette syndrome	Trichotillomania	1	1	SLITRK1 (5)	0.00385	0.50000	3.323e-2	3.525e-2	
Substance abuse	xeroderma pigmentosum group E	1	1	DDB2 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
myopathy caused by variation in POMGNT2	Substance abuse	1	1	POMGNT2 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
HELIOS deficiency	Substance abuse	1	1	IKZF2 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
hermansky-pudlak syndrome 5	Substance abuse	1	1	HPS5 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
Intellectual developmental disorder dysmorphic facial hearing joint	Substance abuse	1	1	TET3 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
neurodevelopmental disorder with language impairment and behavioral abnormalities	Substance abuse	1	1	GRIA2 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
neurodevelopmental disorder with or without seizures and gait abnormalities	Substance abuse	1	1	GRIA4 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	Substance abuse	1	1	MED27 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
Bilateral cleft lip	Substance abuse	1	1	PLEKHA5 (2)	0.00193	1.00000	3.351e-2	3.553e-2	
Cohen-gibson syndrome	Substance abuse	1	1	EED (6)	0.00193	1.00000	3.351e-2	3.553e-2	
cardiomyopathy, dilated, 2j	Substance abuse	1	1	FLII (2)	0.00193	1.00000	3.351e-2	3.553e-2	
Beck-fahrner syndrome	Substance abuse	1	1	TET3 (6)	0.00193	1.00000	3.351e-2	3.553e-2	
agammaglobulinemia 4, autosomal recessive	Substance abuse	1	1	BLNK (2)	0.00193	1.00000	3.351e-2	3.553e-2	
Bosch-boonstra-schaaf optic atrophy syndrome	Breast neoplasms	1	1	NR2F1 (5)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Congenital alpha-fetoprotein deficiency	1	1	AFP (3)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	congenital disorder of deglycosylation 2	1	1	MAN2C1 (2)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Corpus callosum agenesis with intellectual disability, coloboma, micrognathia	1	1	IGBP1 (5)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia	1	1	IGBP1 (3)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Diabetic macular edema	1	1	MRPL19 (2)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Diffuse lymphatic malformation	1	1	ARAF (2)	0.00193	1.00000	3.358e-2	3.557e-2	4
Breast neoplasms	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	1	1	HNRNPK (2)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	1	1	B4GAT1 (2)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Uric acid urolithiasis	1	1	ZNF365 (2)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Uridine-cytidineuria	1	1	SLC28A1 (3)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Prognathism	1	1	ADAMTS1 (2)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Thoracic malformation	1	1	FGF4 (3)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Hypotrichosis and recurrent skin vesicles	1	1	DSC3 (3)	0.00193	1.00000	3.358e-2	3.557e-2	4
Breast neoplasms	Intellectual developmental disorder growth other organ	1	1	PPM1D (3)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Intellectual developmental disorder peripheral neuropathy	1	1	NUDT2 (6)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Intellectual developmental disorder seizures movement	1	1	PDE2A (5)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	Hereditary sensory and autonomic neuropathy with spastic paraplegia	1	1	CCT5 (3)	0.00193	1.00000	3.358e-2	3.557e-2	
Breast neoplasms	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	1	1	HRG (2)	0.00193	1.00000	3.358e-2	3.557e-2	
Intellectual disability	Kleine-levin syndrome	1	0	NAA10 (1)	0.01205	0.14286	3.405e-2	3.607e-2	
khan-khan-katsanis syndrome	Parkinson disease	1	1	NCAPG2 (3)	0.00189	1.00000	3.436e-2	3.634e-2	
kidney disorder	Parkinson disease	1	1	SLC41A1 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
kufor-rakeb syndrome	Parkinson disease	1	1	ATP13A2 (3)	0.00189	1.00000	3.436e-2	3.634e-2	
Parkinson disease	progressive pseudorheumatoid arthropathy of childhood	1	1	CCN6 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
microcephaly 26, primary, autosomal dominant	Parkinson disease	1	1	LMNB1 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
Dystonia-parkinsonism-hypermanganesemia syndrome	Parkinson disease	1	1	SLC39A14 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
fanconi anemia complementation group f	Parkinson disease	1	1	FANCF (2)	0.00189	1.00000	3.436e-2	3.634e-2	
neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Parkinson disease	1	1	TNR (2)	0.00189	1.00000	3.436e-2	3.634e-2	
Parkinson disease	Partial deletion of short arm of chromosome 3	1	1	CHL1 (2)	0.00189	1.00000	3.436e-2	3.634e-2	2
Genetic generalized epilepsy	Parkinson disease	1	1	TNK2 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
hypomyelinating leukodystrophy 5	Parkinson disease	1	1	HYCC1 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
immunodeficiency, common variable, 3	Parkinson disease	1	1	CD19 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
inherited interstitial lung disease	Parkinson disease	1	1	LAMP3 (2)	0.00189	1.00000	3.436e-2	3.634e-2	2
Parkinson disease	spermatogenic failure 39	1	1	DNAH17 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
Parkinson disease	Transaldolase deficiency	1	1	TALDO1 (6)	0.00189	1.00000	3.436e-2	3.634e-2	
Demyelinating leukodystrophy	Parkinson disease	1	1	LMNB1 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
Diabetes deafness developmental delay and short stature syndrome	Parkinson disease	1	1	MANF (3)	0.00189	1.00000	3.436e-2	3.634e-2	2
Branched-chain keto acid dehydrogenase kinase deficiency	Parkinson disease	1	1	BCKDK (6)	0.00189	1.00000	3.436e-2	3.634e-2	
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Parkinson disease	1	1	UBTF (6)	0.00189	1.00000	3.436e-2	3.634e-2	2
Chromosome 15q deletion syndrome	Parkinson disease	1	1	MCTP2 (3)	0.00189	1.00000	3.436e-2	3.634e-2	
3-methylglutaconic aciduria type 8	Parkinson disease	1	1	HTRA2 (5)	0.00189	1.00000	3.436e-2	3.634e-2	
Acantholytic blistering of oral and laryngeal mucosa	Parkinson disease	1	1	DSG3 (4)	0.00189	1.00000	3.436e-2	3.634e-2	
Adult-onset dystonia-parkinsonism	Parkinson disease	1	1	SLC39A14 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
amyotrophic lateral sclerosis type 9	Parkinson disease	1	1	ANG (2)	0.00189	1.00000	3.436e-2	3.634e-2	
Antibody deficiency	Parkinson disease	1	1	CD19 (2)	0.00189	1.00000	3.436e-2	3.634e-2	
Autism-epilepsy syndrome	Parkinson disease	1	1	BCKDK (2)	0.00189	1.00000	3.436e-2	3.634e-2	
Cystinosis	Dilated cardiomyopathy	1	0	TAX1BP3 (1)	0.00364	0.50000	3.515e-2	3.718e-2	
Amelocerebrohypohidrotic syndrome	Depression	1	1	SLC13A5 (2)	0.00356	0.50000	3.591e-2	3.798e-2	
Gastroesophageal reflux disease	Keratosis palmoplantaris papulosa	1	1	AAGAB (3)	0.00356	0.50000	3.591e-2	3.798e-2	
lysinuric protein intolerance	Oligodendroglioma	1	1	SLC7A7 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
LZTFL1-related ciliopathy	Oligodendroglioma	1	1	LZTFL1 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Obstructive pulmonary disease	seckel syndrome 10	1	1	NSMCE2 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Oligodendroglioma	seckel syndrome 10	1	1	NSMCE2 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Obstructive pulmonary disease	Tay-Sachs disease AB variant	1	1	GM2A (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Erythrocyte amp deaminase deficiency	Obstructive pulmonary disease	1	1	AMPD3 (5)	0.00179	1.00000	3.630e-2	3.834e-2	
myopathy, centronuclear, 5	Obstructive pulmonary disease	1	1	SPEG (2)	0.00179	1.00000	3.630e-2	3.834e-2	
myopathy, centronuclear, 5	Oligodendroglioma	1	1	SPEG (2)	0.00179	1.00000	3.630e-2	3.834e-2	
nanophthalmos 4	Oligodendroglioma	1	1	TMEM98 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Oligodendroglioma	progressive pseudorheumatoid arthropathy of childhood	1	1	CCN6 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Oligodendroglioma	retinitis pigmentosa 86	1	1	KIAA1549 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Obstructive pulmonary disease	Young syndrome	1	1	CFAP221 (3)	0.00179	1.00000	3.630e-2	3.834e-2	
Inflammatory demyelinating polyneuropathy	Oligodendroglioma	1	0	CNBD1 (1)	0.00179	1.00000	3.630e-2	3.834e-2	
Intellectual developmental disorder growth microcephaly	Oligodendroglioma	1	1	CTCF (2)	0.00179	1.00000	3.630e-2	3.834e-2	
neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	Obstructive pulmonary disease	1	1	NSRP1 (2)	0.00179	1.00000	3.630e-2	3.834e-2	14
HAVCR2-related cancer predisposition	Oligodendroglioma	1	1	HAVCR2 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
hereditary spastic paraplegia 18	Oligodendroglioma	1	1	ERLIN2 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
hermansky-pudlak syndrome 1	Oligodendroglioma	1	1	HPS1 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
1q44 microdeletion syndrome	Oligodendroglioma	1	1	HNRNPU (3)	0.00179	1.00000	3.630e-2	3.834e-2	
Alanine-glyoxylate aminotransferase deficiency	Oligodendroglioma	1	1	AGXT (2)	0.00179	1.00000	3.630e-2	3.834e-2	
amyotrophic lateral sclerosis type 23	Obstructive pulmonary disease	1	1	ANXA11 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Arthrogryposis with anterior horn cell disease	Oligodendroglioma	1	1	GLE1 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations	Obstructive pulmonary disease	1	1	TOP2B (2)	0.00179	1.00000	3.630e-2	3.834e-2	
bleeding disorder, platelet-type, 22	Oligodendroglioma	1	1	EPHB2 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
C syndrome	Oligodendroglioma	1	1	CD96 (7)	0.00179	1.00000	3.630e-2	3.834e-2	
Dimethylglycine dehydrogenase deficiency	Obstructive pulmonary disease	1	1	DMGDH (7)	0.00179	1.00000	3.630e-2	3.834e-2	
ciliary dyskinesia, primary, 42	Obstructive pulmonary disease	1	1	MCIDAS (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Colobomatous macrophthalmia microcornea syndrome	Obstructive pulmonary disease	1	1	CRIM1 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Colobomatous macrophthalmia microcornea syndrome	Oligodendroglioma	1	1	CRIM1 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
colorectal cancer, susceptibility to, 1	Obstructive pulmonary disease	1	1	GALNT12 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Congenital arthrogryposis with anterior horn cell disease	Oligodendroglioma	1	1	GLE1 (3)	0.00179	1.00000	3.630e-2	3.834e-2	
congenital disorder of glycosylation with defective fucosylation 1	Obstructive pulmonary disease	1	1	FUT8 (2)	0.00179	1.00000	3.630e-2	3.834e-2	
Cleft lip/palate with abnormal thumbs and microcephaly	Desbuquois syndrome	1	1	ESCO2 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Codas syndrome	Desbuquois syndrome	1	1	LONP1 (6)	0.00176	1.00000	3.682e-2	3.869e-2	
COG1-congenital disorder of glycosylation	Desbuquois syndrome	1	1	COG1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
COG4-congenital disorder of glycosylation	Desbuquois syndrome	1	1	COG4 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Combined deficiency of sialidase and beta galactosidase	Desbuquois syndrome	1	1	CTSA (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	Desbuquois syndrome	1	0	ACP5 (1)	0.00176	1.00000	3.682e-2	3.869e-2	
congenital disorder of glycosylation type 1E	Desbuquois syndrome	1	1	DPM1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
aspartylglucosaminuria	Desbuquois syndrome	1	1	AGA (2)	0.00176	1.00000	3.682e-2	3.869e-2	
auriculocondylar syndrome 2	Desbuquois syndrome	1	1	PLCB4 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
autosomal dominant osteopetrosis 2	Desbuquois syndrome	1	1	CLCN7 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
autosomal recessive osteopetrosis 4	Desbuquois syndrome	1	1	CLCN7 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
autosomal recessive osteopetrosis 5	Desbuquois syndrome	1	1	OSTM1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
autosomal recessive osteopetrosis 8	Desbuquois syndrome	1	1	SNX10 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Cataract-neurodevelopmental syndrome	Desbuquois syndrome	1	1	FAR1 (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy	Desbuquois syndrome	1	1	CTSA (3)	0.00176	1.00000	3.682e-2	3.869e-2	
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	Desbuquois syndrome	1	1	EXOSC5 (5)	0.00176	1.00000	3.682e-2	3.869e-2	
Cerebrocostomandibular syndrome	Desbuquois syndrome	1	1	SNRPB (6)	0.00176	1.00000	3.682e-2	3.869e-2	
chondrodysplasia with joint dislocations, gpapp type	Desbuquois syndrome	1	1	BPNT2 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Acromelic frontonasal dysostosis	Desbuquois syndrome	1	1	ZSWIM6 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
adams-oliver syndrome 4	Desbuquois syndrome	1	1	EOGT (2)	0.00176	1.00000	3.682e-2	3.869e-2	
ALG12-congenital disorder of glycosylation	Desbuquois syndrome	1	1	ALG12 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
ALG3-congenital disorder of glycosylation	Desbuquois syndrome	1	1	ALG3 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
ALG9-associated autosomal dominant polycystic kidney disease	Desbuquois syndrome	1	1	ALG9 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
alkylglycerone-phosphate synthase deficiency	Desbuquois syndrome	1	1	AGPS (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Alpha-mannosidosis	Desbuquois syndrome	1	1	MAN2B1 (4)	0.00176	1.00000	3.682e-2	3.869e-2	
desbuquois dysplasia 1	Desbuquois syndrome	1	1	CANT1 (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Desmosterolosis	1	1	DHCR24 (7)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Diaphanospondylodysostosis	1	1	BMPER (6)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Doughnut lesion of calvaria and bone fragility syndrome	1	1	SGMS2 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
bone marrow failure syndrome 3	Desbuquois syndrome	1	1	DNAJC21 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Calvarial doughnut lesions with bone fragility	Desbuquois syndrome	1	1	SGMS2 (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Camptosynpolydactyly	Desbuquois syndrome	1	1	BHLHA9 (5)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	fucosidosis	1	1	FUCA1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	glyceronephosphate O-acyltransferase deficiency	1	1	GNPAT (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	GNPTAB-mucolipidosis	1	1	GNPTAB (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	GNPTG-mucolipidosis	1	1	GNPTG (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Gollop-wolfgang complex	1	1	BHLHA9 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	GPR161-related medulloblastoma predisposition	1	1	GPR161 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	hand-foot-genital syndrome	1	1	HOXA13 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Peroxisomal fatty acyl-coa reductase 1 disorder	1	1	FAR1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Postaxial acrofacial dysostosis	1	1	DHODH (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	pycnodysostosis	1	1	CTSK (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	RAB23-related Carpenter syndrome	1	1	RAB23 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Rhizomelic dysplasia, ain-naz type	1	1	GNPNAT1 (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Rhizomelic limb shortening with dysmorphic features	1	1	PKDCC (5)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Richieri costa pereira syndrome	1	1	EIF4A3 (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Roberts syndrome	1	1	ESCO2 (3)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Roberts-sc phocomelia syndrome	1	1	ESCO2 (5)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Robin sequence with cleft mandible and limb anomalies	1	1	EIF4A3 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	ehlers-danlos syndrome, musculocontractural type 2	1	1	DSE (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Enteropathy	1	1	SLCO2A1 (3)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	FAM111A-related skeletal dysplasia	1	1	FAM111A (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Familial telangiectasia cancer syndrome	1	1	ATR (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	fatty acyl-CoA reductase 1 deficiency	1	1	FAR1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	fatty acyl-CoA reductase 1 upregulation	1	1	FAR1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	fontaine progeroid syndrome	1	1	SLC25A24 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	1	1	ALX1 (6)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	frontorhiny	1	1	ALX3 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	joubert syndrome 24	1	1	TCTN2 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	lethal occipital encephalocele-skeletal dysplasia syndrome	1	1	CYP26B1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	lethal osteosclerotic bone dysplasia	1	1	FAM20C (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	leukocyte adhesion deficiency type II	1	1	SLC35C1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	liberfarb syndrome	1	1	PISD (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Majeed syndrome	1	1	LPIN2 (6)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Saul-wilson syndrome	1	1	COG4 (3)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	schneckenbecken dysplasia	1	1	SLC35D1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Severe neonatal spondylometaphyseal dysplasia	1	1	SBDS (3)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	SF3B4-related acrofacial dysostosis	1	1	SF3B4 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Short stature skeletal dysplasia retinal degeneration intellectual disability hearing loss syndrome	1	1	PISD (3)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	shwachman-diamond syndrome 2	1	1	EFL1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	spondyloepimetaphyseal dysplasia with joint laxity, type 3	1	1	EXOC6B (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	spondyloepimetaphyseal dysplasia, genevieve type	1	1	NANS (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	syndactyly-telecanthus-anogenital and renal malformations syndrome	1	1	CCNQ (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	thrombocytopenia-absent radius syndrome	1	1	RBM8A (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	TMEM165-congenital disorder of glycosylation	1	1	TMEM165 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	MEGF8-related Carpenter syndrome	1	1	MEGF8 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	meier-gorlin syndrome 2	1	1	ORC4 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	meier-gorlin syndrome 3	1	1	ORC6 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	meier-gorlin syndrome 4	1	1	CDT1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	meier-gorlin syndrome 5	1	1	CDC6 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	meier-gorlin syndrome 6	1	1	GMNN (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	meier-gorlin syndrome 7	1	1	CDC45 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	mend syndrome	1	1	EBP (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	microcephalic osteodysplastic dysplasia, Saul-Wilson type	1	1	COG4 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	microcephaly with or without short stature	1	1	CEP152 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome	1	1	AMMECR1 (6)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	mucopolysaccharidosis type 3C	1	1	HGSNAT (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	mucopolysaccharidosis type 3D	1	1	GNS (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	mucopolysaccharidosis type 4A	1	1	GALNS (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	mucopolysaccharidosis type 6	1	1	ARSB (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	mucopolysaccharidosis type 7	1	1	GUSB (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	mucopolysaccharidosis-plus syndrome	1	1	VPS33A (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	netherton syndrome	1	1	SPINK5 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	1	1	PPP1R21 (2)	0.00176	1.00000	3.682e-2	3.869e-2	127
Desbuquois syndrome	opsismodysplasia	1	1	INPPL1 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Osteocraniostenosis	1	1	FAM111A (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Parathyroid carcinoma	1	1	CDC73 (4)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Parathyroid neoplasm	1	1	CDC73 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Tricho-dento-osseous syndrome	1	1	DLX3 (6)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	TRIP11-related skeletal dysplasia	1	1	TRIP11 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Uterine bilocularis	1	1	HOXA13 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	vertebral, cardiac, renal, and limb defects syndrome 1	1	1	HAAO (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	X-linked dominant chondrodysplasia punctata	1	1	EBP (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	hyperparathyroidism 2 with jaw tumors	1	1	CDC73 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	hyperphosphatasia with intellectual disability syndrome 1	1	1	PIGV (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	hypopigmentation, organomegaly, and delayed myelination and development	1	1	CLCN7 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	immunoskeletal dysplasia with neurodevelopmental abnormalities	1	1	EXTL3 (2)	0.00176	1.00000	3.682e-2	3.869e-2	
Desbuquois syndrome	Intellectual developmental disorder growth other organ	1	1	PPM1D (3)	0.00176	1.00000	3.682e-2	3.869e-2	
immunodeficiency 106, susceptibility to viral infections	Multiple sclerosis	1	1	IFNAR1 (2)	0.00173	1.00000	3.741e-2	3.928e-2	
inflammatory bowel disease 25	Multiple sclerosis	1	1	IL10RB (2)	0.00173	1.00000	3.741e-2	3.928e-2	
Multiple sclerosis	seizures, early-onset, with neurodegeneration and brain calcifications	1	1	NRROS (2)	0.00173	1.00000	3.741e-2	3.928e-2	
Multiple sclerosis	Telangiectasia–intellectual disability–microcephaly–metaphyseal dysplasia–eye abnormalities–short stature syndrome	1	1	LRRC8C (4)	0.00173	1.00000	3.741e-2	3.928e-2	
Multiple sclerosis	RCBTB1-related retinopathy	1	1	RCBTB1 (2)	0.00173	1.00000	3.741e-2	3.928e-2	
Multiple sclerosis	RFT1-congenital disorder of glycosylation	1	1	RFT1 (2)	0.00173	1.00000	3.741e-2	3.928e-2	
leukodystrophy, hypomyelinating, 22	Multiple sclerosis	1	1	CLDN11 (3)	0.00173	1.00000	3.741e-2	3.928e-2	
LZTFL1-related ciliopathy	Multiple sclerosis	1	1	LZTFL1 (2)	0.00173	1.00000	3.741e-2	3.928e-2	
Multiple sclerosis	X-linked epilepsy with or without intellectual disability and dysmorphic features	1	1	GABRA3 (4)	0.00173	1.00000	3.741e-2	3.928e-2	
Multiple sclerosis	Ziegler-huang syndrome	1	1	SLC30A7 (2)	0.00173	1.00000	3.741e-2	3.928e-2	
Multiple sclerosis	NIK deficiency	1	1	MAP3K14 (2)	0.00173	1.00000	3.741e-2	3.928e-2	
C syndrome	Multiple sclerosis	1	1	CD96 (6)	0.00173	1.00000	3.741e-2	3.928e-2	
congenital disorder of glycosylation with defective fucosylation 1	Multiple sclerosis	1	1	FUT8 (2)	0.00173	1.00000	3.741e-2	3.928e-2	
Baralle-macken syndrome	Multiple sclerosis	1	1	COPB1 (4)	0.00173	1.00000	3.741e-2	3.928e-2	
Childhood kidney wilms tumor	Colorectal neoplasms	1	1	TRIM28 (2)	0.00341	0.50000	3.744e-2	3.931e-2	
apparent mineralocorticoid excess	Myocardial infarction	1	1	HSD11B2 (3)	0.00172	1.00000	3.767e-2	3.953e-2	
Beta-ureidopropionase deficiency	Myocardial infarction	1	1	UPB1 (7)	0.00172	1.00000	3.767e-2	3.953e-2	
Congenital right-sided heart lesions	Myocardial infarction	1	0	SLC27A6 (1)	0.00172	1.00000	3.767e-2	3.953e-2	
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	Myocardial infarction	1	1	AHDC1 (2)	0.00172	1.00000	3.767e-2	3.953e-2	
Myocardial infarction	Richieri costa pereira syndrome	1	1	EIF4A3 (5)	0.00172	1.00000	3.767e-2	3.953e-2	
Myocardial infarction	Robin sequence with cleft mandible and limb anomalies	1	1	EIF4A3 (2)	0.00172	1.00000	3.767e-2	3.953e-2	
immunodeficiency 76	Myocardial infarction	1	1	FCHO1 (2)	0.00172	1.00000	3.767e-2	3.953e-2	
Myocardial infarction	Woolly hair-skin fragility syndrome	1	1	TUFT1 (4)	0.00172	1.00000	3.767e-2	3.953e-2	
Myocardial infarction	Xia-gibbs syndrome	1	1	AHDC1 (3)	0.00172	1.00000	3.767e-2	3.953e-2	
Mineralocortocoid excess	Myocardial infarction	1	1	HSD11B2 (7)	0.00172	1.00000	3.767e-2	3.953e-2	
Diabetes mellitus	Tropical calcific pancreatitis	1	1	SPINK1 (5)	0.00336	0.50000	3.808e-2	3.996e-2	
Congenital chronic diarrhea with protein-losing enteropathy	Diabetes mellitus	1	1	DGAT1 (3)	0.00336	0.50000	3.808e-2	3.996e-2	
CNGB1-related retinopathy	Dementia	1	1	CNGB1 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Autoinflammation with episodic fever and immune dysregulation	Dementia	1	1	SHARPIN (4)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	Dihydropteridine reductase deficiency	1	1	QDPR (5)	0.00169	1.00000	3.832e-2	4.017e-2	
C syndrome	Dementia	1	1	CD96 (7)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	Webb-dattani syndrome	1	1	ARNT2 (5)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	polyglucosan body myopathy type 2	1	1	GYG1 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	primary ciliary dyskinesia 9	1	1	DNAI2 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	Prognathism	1	1	ADAMTS1 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	pseudohypoaldosteronism type 2D	1	1	KLHL3 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	neuropathy, hereditary sensory and autonomic, type 1A	1	1	SPTLC1 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	fontaine progeroid syndrome	1	1	SLC25A24 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	scott syndrome	1	1	ANO6 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	Sedoheptulokinase deficiency	1	1	SHPK (2)	0.00169	1.00000	3.832e-2	4.017e-2	2
Dementia	SMARCC1-associated developmental dysgenesis syndrome	1	1	SMARCC1 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	meier-gorlin syndrome 7	1	1	CDC45 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	Intellectual developmental disorder dysmorphic cardiac	1	1	TMEM94 (4)	0.00169	1.00000	3.832e-2	4.017e-2	
Dementia	intellectual developmental disorder with cardiac defects and dysmorphic facies	1	1	TMEM94 (2)	0.00169	1.00000	3.832e-2	4.017e-2	
Aicardi syndrome	Astrocytoma	1	1	TEAD1 (2)	0.00330	0.50000	3.872e-2	4.059e-2	
Ankle fracture	Uterine fibroid	1	0	CPED1 (1)	0.00325	0.50000	3.935e-2	4.126e-2	
3-hydroxyisobutyryl-coa hydrolase deficiency	Glioblastoma	1	1	HIBCH (3)	0.00164	1.00000	3.942e-2	4.130e-2	
bryant-li-bhoj neurodevelopmental syndrome 1	Glioblastoma	1	1	H3-3A (2)	0.00164	1.00000	3.942e-2	4.130e-2	
congenital dyserythropoietic anemia type 2	Glioblastoma	1	1	SEC23B (2)	0.00164	1.00000	3.942e-2	4.130e-2	
Cataract-microcornea-metabolic syndrome	Glioblastoma	1	1	SLC16A12 (2)	0.00164	1.00000	3.942e-2	4.130e-2	
Glioblastoma	leukodystrophy, hypomyelinating, 14	1	1	UFM1 (2)	0.00164	1.00000	3.942e-2	4.130e-2	
Glioblastoma	Rin2 syndrome	1	1	RIN2 (5)	0.00164	1.00000	3.942e-2	4.130e-2	
Giant cell tumor of bone	Glioblastoma	1	0	H3-3A (1)	0.00164	1.00000	3.942e-2	4.130e-2	
Glioblastoma	ornithine aminotransferase deficiency	1	1	OAT (2)	0.00164	1.00000	3.942e-2	4.130e-2	
Glioblastoma	Sarcosine dehydrogenase deficiency	1	1	SARDH (2)	0.00164	1.00000	3.942e-2	4.130e-2	
Glioblastoma	Sarcosinemia	1	1	SARDH (6)	0.00164	1.00000	3.942e-2	4.130e-2	
Glioblastoma	systemic lupus erythematosus 18	1	1	PLD4 (2)	0.00164	1.00000	3.942e-2	4.130e-2	291
Glioblastoma	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	1	1	RAP1B (2)	0.00164	1.00000	3.942e-2	4.130e-2	291
Glioblastoma	Microscopic polyangiitis	1	0	CDH19 (1)	0.00164	1.00000	3.942e-2	4.130e-2	
hand-foot-genital syndrome	Ulcerative colitis	1	1	HOXA13 (2)	0.00163	1.00000	3.968e-2	4.155e-2	
Kindler epidermolysis bullosa	Ulcerative colitis	1	1	FERMT1 (2)	0.00163	1.00000	3.968e-2	4.155e-2	
kindler syndrome	Ulcerative colitis	1	1	FERMT1 (2)	0.00163	1.00000	3.968e-2	4.155e-2	
ehlers-danlos syndrome, musculocontractural type 2	Ulcerative colitis	1	1	DSE (2)	0.00163	1.00000	3.968e-2	4.155e-2	
Ulcerative colitis	Uterine bilocularis	1	1	HOXA13 (2)	0.00163	1.00000	3.968e-2	4.155e-2	
phosphohydroxylysinuria	Ulcerative colitis	1	1	PHYKPL (2)	0.00163	1.00000	3.968e-2	4.155e-2	
immunodeficiency, common variable, 14	Ulcerative colitis	1	1	IRF2BP2 (2)	0.00163	1.00000	3.968e-2	4.155e-2	
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	Ulcerative colitis	1	1	DPH5 (2)	0.00163	1.00000	3.968e-2	4.155e-2	14
Chromosome 16p11.2 microdeletion syndrome	Ulcerative colitis	1	1	SH2B1 (3)	0.00163	1.00000	3.968e-2	4.155e-2	
congenital disorder of glycosylation, type IIq	Ulcerative colitis	1	1	COG2 (2)	0.00163	1.00000	3.968e-2	4.155e-2	
ALG11-congenital disorder of glycosylation	Ulcerative colitis	1	1	ALG11 (2)	0.00163	1.00000	3.968e-2	4.155e-2	
Alys amyloidosis	Ulcerative colitis	1	0	LYZ (1)	0.00163	1.00000	3.968e-2	4.155e-2	
Cystathioninuria	Ulcerative colitis	1	1	CTH (6)	0.00163	1.00000	3.968e-2	4.155e-2	
Microcephaly	Tessadori-van haaften neurodevelopmental syndrome	1	1	H4C3 (5)	0.00893	0.16667	4.061e-2	4.252e-2	
Intestinal vascular insufficiency	Nonalcoholic fatty liver disease	1	0	NEDD9 (1)	0.00314	0.50000	4.062e-2	4.253e-2	
Nonalcoholic fatty liver disease	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	1	1	TRMT10A (3)	0.00314	0.50000	4.062e-2	4.253e-2	
Atelis syndrome	Nonalcoholic fatty liver disease	1	1	SLF2 (4)	0.00314	0.50000	4.062e-2	4.253e-2	
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	Prostatic neoplasms	1	1	DNAJC3 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Prostatic neoplasms	1	1	TPP1 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Desanto-shinawi syndrome	Prostatic neoplasms	1	1	WAC (6)	0.00159	1.00000	4.072e-2	4.259e-2	
developmental and epileptic encephalopathy, 55	Prostatic neoplasms	1	1	PIGP (2)	0.00159	1.00000	4.072e-2	4.259e-2	
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	Prostatic neoplasms	1	1	QARS1 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome	Prostatic neoplasms	1	1	QARS1 (5)	0.00159	1.00000	4.072e-2	4.259e-2	
Dimauro disease	Prostatic neoplasms	1	0	PGAM2 (1)	0.00159	1.00000	4.072e-2	4.259e-2	
17-beta-hydroxysteroid dehydrogenase deficiency	Prostatic neoplasms	1	1	HSD17B3 (4)	0.00159	1.00000	4.072e-2	4.259e-2	
Absence of fingerprints-congenital milia syndrome	Prostatic neoplasms	1	1	SMARCAD1 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
ADAM9-related retinopathy	Prostatic neoplasms	1	1	ADAM9 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Prostatic neoplasms	radio-tartaglia syndrome	1	1	SPEN (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Prostatic neoplasms	spondyloepiphyseal dysplasia, kondo-fu type	1	1	MBTPS1 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Prostatic neoplasms	systemic lupus erythematosus, susceptibility to, 1	1	1	TLR5 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
hearing loss, autosomal recessive 116	Prostatic neoplasms	1	1	CLDN9 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Essential pentosuria	Prostatic neoplasms	1	1	DCXR (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Familial telangiectasia cancer syndrome	Prostatic neoplasms	1	1	ATR (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Intellectual developmental disorder seizures polymicrogyria	Prostatic neoplasms	1	1	TCP1 (4)	0.00159	1.00000	4.072e-2	4.259e-2	4
leukodystrophy, hypomyelinating, 18	Prostatic neoplasms	1	1	DEGS1 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
immunodeficiency 115 with autoinflammation	Prostatic neoplasms	1	1	RNF31 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
neurodevelopmental disorder with severe motor impairment and absent language	Prostatic neoplasms	1	1	DHX30 (2)	0.00159	1.00000	4.072e-2	4.259e-2	
Lung cancer	PCARE-related retinopathy	1	1	PCARE (2)	0.00154	1.00000	4.215e-2	4.400e-2	
glycogen storage disease VI	Hepatocellular carcinoma	1	1	PYGL (2)	0.00154	1.00000	4.215e-2	4.400e-2	
glycogen storage disorder due to hepatic glycogen synthase deficiency	Hepatocellular carcinoma	1	1	GYS2 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
hand-foot-genital syndrome	Hepatocellular carcinoma	1	1	HOXA13 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatic glycogen synthase deficiency	Hepatocellular carcinoma	1	1	GYS2 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	1	1	FAM111B (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	phosphoenolpyruvate carboxykinase deficiency, cytosolic	1	1	PCK1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Lung cancer	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	1	1	NAF1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Lung cancer	Rhizomelic limb shortening with dysmorphic features	1	1	PKDCC (5)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	Ruijs-aalfs syndrome	1	1	SPRTN (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	meier-gorlin syndrome 4	1	1	CDT1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	meier-gorlin syndrome 5	1	1	CDC6 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	meier-gorlin syndrome 6	1	1	GMNN (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	mitchell syndrome	1	1	ACOX1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	Mitochondrial encephalocardiomyopathy	1	1	TMEM70 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	Urocanase deficiency	1	1	UROC1 (3)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	Urocanate hydratase deficiency	1	1	UROC1 (5)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	urocanic aciduria	1	1	UROC1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	Uterine bilocularis	1	1	HOXA13 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	spondyloepiphyseal dysplasia, kondo-fu type	1	1	MBTPS1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	systemic lupus erythematosus 17	1	1	TLR7 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	telangiectasia, hereditary hemorrhagic, type 5	1	1	GDF2 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	Thoracic malformation	1	1	FGF4 (3)	0.00154	1.00000	4.215e-2	4.400e-2	
immunodeficiency 18	Lung cancer	1	1	CD3E (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Hepatocellular carcinoma	immunodeficiency 80 with or without congenital cardiomyopathy	1	1	MCM10 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Intellectual developmental disorder dysmorphic facial hearing joint	Lung cancer	1	1	TET3 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Lung cancer	Majeed syndrome	1	1	LPIN2 (7)	0.00154	1.00000	4.215e-2	4.400e-2	
21q22.11q22.12 microdeletion syndrome	Hepatocellular carcinoma	1	1	KIF15 (3)	0.00154	1.00000	4.215e-2	4.400e-2	
Acetyl-coa carboxylase deficiency	Hepatocellular carcinoma	1	1	ACACA (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Aminoaciduria	Hepatocellular carcinoma	1	1	CLTRN (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Beck-fahrner syndrome	Lung cancer	1	1	TET3 (6)	0.00154	1.00000	4.215e-2	4.400e-2	
Citrin deficiency	Lung cancer	1	1	SLC25A13 (4)	0.00154	1.00000	4.215e-2	4.400e-2	
combined immunodeficiency due to GINS1 deficiency	Hepatocellular carcinoma	1	1	GINS1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Congenital alpha-fetoprotein deficiency	Hepatocellular carcinoma	1	1	AFP (3)	0.00154	1.00000	4.215e-2	4.400e-2	
Braddock-carey syndrome	Hepatocellular carcinoma	1	1	KIF15 (4)	0.00154	1.00000	4.215e-2	4.400e-2	
C3hex olfactory ability	Lung cancer	1	1	OR2J3 (2)	0.00154	1.00000	4.215e-2	4.400e-2	21
Diaphanospondylodysostosis	Hepatocellular carcinoma	1	1	BMPER (6)	0.00154	1.00000	4.215e-2	4.400e-2	
Corpus callosum agenesis with intellectual disability, coloboma, micrognathia	Hepatocellular carcinoma	1	1	IGBP1 (5)	0.00154	1.00000	4.215e-2	4.400e-2	
Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia	Hepatocellular carcinoma	1	1	IGBP1 (3)	0.00154	1.00000	4.215e-2	4.400e-2	
Carnosinase deficiency	Hepatocellular carcinoma	1	1	CNDP1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
Carnosinemia	Hepatocellular carcinoma	1	1	CNDP1 (2)	0.00154	1.00000	4.215e-2	4.400e-2	
carnitine palmitoyltransferase II deficiency	Systemic lupus erythematosus	1	1	CPT2 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Systemic lupus erythematosus	1	1	CYP21A2 (5)	0.00153	1.00000	4.247e-2	4.429e-2	
congenital bile acid synthesis defect 6	Systemic lupus erythematosus	1	1	ACOX2 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
congenital disorder of glycosylation, type 2v	Systemic lupus erythematosus	1	1	EDEM3 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
3-hydroxyisobutyryl-coa hydrolase deficiency	Systemic lupus erythematosus	1	1	HIBCH (3)	0.00153	1.00000	4.247e-2	4.429e-2	
Amish lethal microcephaly	Systemic lupus erythematosus	1	1	SLC25A19 (5)	0.00153	1.00000	4.247e-2	4.429e-2	
Autoinflammatory-pancytopenia syndrome	Systemic lupus erythematosus	1	1	DNASE2 (4)	0.00153	1.00000	4.247e-2	4.429e-2	47
Beck-fahrner syndrome	Systemic lupus erythematosus	1	1	TET3 (6)	0.00153	1.00000	4.247e-2	4.429e-2	
Benign familial pemphigus	Systemic lupus erythematosus	1	1	ATP2C1 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
Dalmatian hypouricemia	Systemic lupus erythematosus	1	1	SLC22A12 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
primary ciliary dyskinesia 32	Systemic lupus erythematosus	1	1	RSPH3 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
Hoxha-aliu syndrome	Systemic lupus erythematosus	1	1	ERI1 (4)	0.00153	1.00000	4.247e-2	4.429e-2	
immunodeficiency 87 and autoimmunity	Systemic lupus erythematosus	1	1	DEF6 (3)	0.00153	1.00000	4.247e-2	4.429e-2	
immunodeficiency, common variable, 7	Systemic lupus erythematosus	1	1	CR2 (6)	0.00153	1.00000	4.247e-2	4.429e-2	47
Intellectual developmental disorder behavioral short stature	Systemic lupus erythematosus	1	1	PUS7 (4)	0.00153	1.00000	4.247e-2	4.429e-2	
Intellectual developmental disorder dysmorphic facial hearing joint	Systemic lupus erythematosus	1	1	TET3 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
ehlers-danlos syndrome, musculocontractural type 2	Systemic lupus erythematosus	1	1	DSE (2)	0.00153	1.00000	4.247e-2	4.429e-2	
FNIP1-associated syndrome	Systemic lupus erythematosus	1	1	FNIP1 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
Systemic lupus erythematosus	systemic lupus erythematosus 17	1	1	TLR7 (7)	0.00153	1.00000	4.247e-2	4.429e-2	
Systemic lupus erythematosus	systemic lupus erythematosus 18	1	1	PLD4 (2)	0.00153	1.00000	4.247e-2	4.429e-2	
Systemic lupus erythematosus	systemic lupus erythematosus, susceptibility to, 1	1	1	TLR5 (5)	0.00153	1.00000	4.247e-2	4.429e-2	
Hydatidiform mole	Keratoconus	1	0	KIR3DL1 (1)	0.00855	0.16667	4.249e-2	4.430e-2	
Central nervous system cancer	leukodystrophy, hypomyelinating, 14	1	1	UFM1 (2)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	neurodevelopmental disorder with or without seizures and gait abnormalities	1	1	GRIA4 (2)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	ornithine aminotransferase deficiency	1	1	OAT (2)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	Griscelli syndrome type 2	1	1	RAB27A (2)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	Microscopic polyangiitis	1	0	CDH19 (1)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	Sarcosine dehydrogenase deficiency	1	1	SARDH (2)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	Sarcosinemia	1	1	SARDH (6)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	systemic lupus erythematosus 18	1	1	PLD4 (2)	0.00152	1.00000	4.260e-2	4.440e-2	291
Central nervous system cancer	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	1	1	RAP1B (2)	0.00152	1.00000	4.260e-2	4.440e-2	291
Central nervous system cancer	Rin2 syndrome	1	1	RIN2 (5)	0.00152	1.00000	4.260e-2	4.440e-2	
Cataract-microcornea-metabolic syndrome	Central nervous system cancer	1	1	SLC16A12 (2)	0.00152	1.00000	4.260e-2	4.440e-2	
Central nervous system cancer	congenital dyserythropoietic anemia type 2	1	1	SEC23B (2)	0.00152	1.00000	4.260e-2	4.440e-2	
Amyotrophic lateral sclerosis	Oculopharyngeal muscular dystrophy	1	1	HNRNPA2B1 (5)	0.00299	0.50000	4.266e-2	4.446e-2	
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	Rheumatoid arthritis	1	1	VARS1 (2)	0.00151	1.00000	4.299e-2	4.478e-2	
Rheumatoid arthritis	tumor predisposition syndrome 2	1	1	MBD4 (2)	0.00151	1.00000	4.299e-2	4.478e-2	
Rheumatoid arthritis	X-linked ichthyosis with steryl-sulfatase deficiency	1	1	STS (3)	0.00151	1.00000	4.299e-2	4.478e-2	
Rheumatoid arthritis	You-hoover-fong syndrome	1	1	TELO2 (3)	0.00151	1.00000	4.299e-2	4.478e-2	
immunodeficiency 18	Rheumatoid arthritis	1	1	CD3E (3)	0.00151	1.00000	4.299e-2	4.478e-2	
Intellectual developmental disorder seizures movement	Rheumatoid arthritis	1	1	PDE2A (4)	0.00151	1.00000	4.299e-2	4.478e-2	
Rheumatoid arthritis	systemic lupus erythematosus 18	1	1	PLD4 (4)	0.00151	1.00000	4.299e-2	4.478e-2	
Rheumatoid arthritis	TELO2-related intellectual disability-neurodevelopmental disorder	1	1	TELO2 (2)	0.00151	1.00000	4.299e-2	4.478e-2	
Rheumatoid arthritis	Thrombocytopenia with anemia and myelofibrosis	1	1	MPIG6B (6)	0.00151	1.00000	4.299e-2	4.478e-2	
Rheumatoid arthritis	thrombocytopenia, anemia, and myelofibrosis	1	1	MPIG6B (2)	0.00151	1.00000	4.299e-2	4.478e-2	
colobomatous microphthalmia-rhizomelic dysplasia syndrome	Rheumatoid arthritis	1	1	MAB21L2 (3)	0.00151	1.00000	4.299e-2	4.478e-2	
Central centrifugal cicatricial alopecia	Rheumatoid arthritis	1	1	PADI3 (2)	0.00151	1.00000	4.299e-2	4.478e-2	
MHC class II deficiency	Oligoarticular juvenile idiopathic arthritis	1	1	CIITA (2)	0.00575	0.25000	4.344e-2	4.524e-2	
Tropical calcific pancreatitis	Venous thromboembolism	1	1	SPINK1 (6)	0.00291	0.50000	4.393e-2	4.575e-2	
propionic acidemia	Venous thromboembolism	1	1	PCCB (2)	0.00291	0.50000	4.393e-2	4.575e-2	
Cortisone reductase deficiency	Venous thromboembolism	1	1	H6PD (6)	0.00291	0.50000	4.393e-2	4.575e-2	
Interferon gamma receptor deficiency	Sclerosing cholangitis	1	1	IFNGR2 (2)	0.00429	0.33333	4.415e-2	4.597e-2	
Crohn disease	Kindler epidermolysis bullosa	1	1	FERMT1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Inflammatory bowel disease	Kindler epidermolysis bullosa	1	1	FERMT1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	kindler syndrome	1	1	FERMT1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Inflammatory bowel disease	kindler syndrome	1	1	FERMT1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	RFT1-congenital disorder of glycosylation	1	1	RFT1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Inflammatory bowel disease	RFT1-congenital disorder of glycosylation	1	1	RFT1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	1	1	DPH5 (2)	0.00145	1.00000	4.481e-2	4.659e-2	14
Inflammatory bowel disease	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	1	1	DPH5 (2)	0.00145	1.00000	4.481e-2	4.659e-2	14
Inflammatory bowel disease	schneckenbecken dysplasia	1	1	SLC35D1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Inflammatory bowel disease	scott syndrome	1	1	ANO6 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	succinic semialdehyde dehydrogenase deficiency	1	1	ALDH5A1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	hyperphosphatasia with intellectual disability syndrome 4	1	1	PGAP3 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	immunodeficiency 121 with autoinflammation	1	1	PSMB10 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
immunodeficiency 121 with autoinflammation	Inflammatory bowel disease	1	1	PSMB10 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	immunodeficiency, common variable, 14	1	1	IRF2BP2 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
immunodeficiency, common variable, 14	Inflammatory bowel disease	1	1	IRF2BP2 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	inflammatory bowel disease 28	1	1	IL10RA (3)	0.00145	1.00000	4.481e-2	4.659e-2	
Inflammatory bowel disease	inflammatory bowel disease 28	1	1	IL10RA (5)	0.00145	1.00000	4.481e-2	4.659e-2	
Inflammatory bowel disease	inflammatory skin and bowel disease, neonatal, 1	1	1	ADAM17 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	Ehrlich tumor carcinoma	1	1	CEACAM20 (2)	0.00145	1.00000	4.481e-2	4.659e-2	14
FNIP1-associated syndrome	Inflammatory bowel disease	1	1	FNIP1 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Acromelic frontonasal dysostosis	Inflammatory bowel disease	1	1	ZSWIM6 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
ALG11-congenital disorder of glycosylation	Crohn disease	1	1	ALG11 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
ALG11-congenital disorder of glycosylation	Inflammatory bowel disease	1	1	ALG11 (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Alys amyloidosis	Crohn disease	1	0	LYZ (1)	0.00145	1.00000	4.481e-2	4.659e-2	
Alys amyloidosis	Inflammatory bowel disease	1	0	LYZ (1)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	Cystathioninuria	1	1	CTH (6)	0.00145	1.00000	4.481e-2	4.659e-2	
Cystathioninuria	Inflammatory bowel disease	1	1	CTH (6)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	D-lactic aciduria	1	1	LDHD (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Crohn disease	D-lactic aciduria with gout	1	1	LDHD (2)	0.00145	1.00000	4.481e-2	4.659e-2	
Chromosome 16p11.2 microdeletion syndrome	Crohn disease	1	1	SH2B1 (3)	0.00145	1.00000	4.481e-2	4.659e-2	
Chromosome 16p11.2 microdeletion syndrome	Inflammatory bowel disease	1	1	SH2B1 (3)	0.00145	1.00000	4.481e-2	4.659e-2	
Benign flecked retina	Crohn disease	1	1	PLA2G5 (3)	0.00145	1.00000	4.481e-2	4.659e-2	14
Benign flecked retina	Inflammatory bowel disease	1	1	PLA2G5 (3)	0.00145	1.00000	4.481e-2	4.659e-2	14
Hemifacial microsomia	Peripheral arterial disease	1	1	ZYG11B (2)	0.00552	0.25000	4.520e-2	4.699e-2	
Aicardi syndrome	Retinitis pigmentosa	1	1	TEAD1 (2)	0.00279	0.50000	4.571e-2	4.751e-2	
Carnitine acetyltransferase deficiency	Eczema	1	1	CRAT (2)	0.00272	0.50000	4.685e-2	4.870e-2	
Buratti-harel syndrome	Non-specific syndromic intellectual disability	1	1	SIAH1 (5)	0.00270	0.50000	4.723e-2	4.909e-2	6
ciliary dyskinesia, primary, 54	Osteoarthritis	1	1	CFAP54 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Citrin deficiency	Osteoarthritis	1	1	SLC25A13 (4)	0.00137	1.00000	4.741e-2	4.922e-2	
COG5-congenital disorder of glycosylation	Osteoarthritis	1	1	COG5 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Congenital lactase deficiency	Osteoarthritis	1	1	LCT (4)	0.00137	1.00000	4.741e-2	4.922e-2	2
congenital myasthenic syndrome 12	Osteoarthritis	1	1	GFPT1 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Congenital right-sided heart lesions	Osteoarthritis	1	0	SLC27A6 (1)	0.00137	1.00000	4.741e-2	4.922e-2	
Craniolenticulosutural dysplasia	Osteoarthritis	1	1	SEC23A (6)	0.00137	1.00000	4.741e-2	4.922e-2	2
12q15q21 microdeletion syndrome	Osteoarthritis	1	1	CNOT2 (3)	0.00137	1.00000	4.741e-2	4.922e-2	
ALG12-congenital disorder of glycosylation	Osteoarthritis	1	1	ALG12 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Delayed sleep phase syndrome	Osteoarthritis	1	1	CRY1 (3)	0.00137	1.00000	4.741e-2	4.922e-2	
autosomal recessive spinocerebellar ataxia 14	Osteoarthritis	1	1	SPTBN2 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
long chain 3-hydroxyacyl-coa dehydrogenase deficiency	Osteoarthritis	1	1	HADHA (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Osteoarthritis	Zaki syndrome	1	1	WLS (3)	0.00137	1.00000	4.741e-2	4.922e-2	
Osteoarthritis	Perlman syndrome	1	1	DIS3L2 (5)	0.00137	1.00000	4.741e-2	4.922e-2	
Osteoarthritis	Polydactyly-macrocephaly syndrome	1	1	MAX (5)	0.00137	1.00000	4.741e-2	4.922e-2	
Osteoarthritis	retinitis pigmentosa 18	1	1	PRPF3 (2)	0.00137	1.00000	4.741e-2	4.922e-2	2
Intellectual developmental disorder dysmorphic	Osteoarthritis	1	1	POU3F3 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Intellectual developmental disorder dysmorphic skeletal	Osteoarthritis	1	1	CNOT2 (4)	0.00137	1.00000	4.741e-2	4.922e-2	
Intellectual developmental disorder dysmorphic speech skeletal	Osteoarthritis	1	1	CNOT2 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Osteoarthritis	Osteomalacia	1	1	MEPE (3)	0.00137	1.00000	4.741e-2	4.922e-2	
Osteoarthritis	Pemphigus foliaceus	1	1	RAN (2)	0.00137	1.00000	4.741e-2	4.922e-2	2
Osteoarthritis	SNUPN-related muscular dystrophy with or without multi-system involvement	1	1	SNUPN (2)	0.00137	1.00000	4.741e-2	4.922e-2	2
Osteoarthritis	spinocerebellar ataxia type 5	1	1	SPTBN2 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Osteoarthritis	tooth agenesis, selective, 3	1	1	PAX9 (2)	0.00137	1.00000	4.741e-2	4.922e-2	
Psoriasis	Thiopurine s-methyltransferase deficiency	1	1	TPMT (4)	0.00137	1.00000	4.747e-2	4.927e-2	
Psoriasis	Von zumbuzschs disease	1	1	IL36RN (5)	0.00137	1.00000	4.747e-2	4.927e-2	
Psoriasis	Worster drought syndrome	1	1	TMTC4 (2)	0.00137	1.00000	4.747e-2	4.927e-2	
intellectual disability, autosomal recessive 61	Psoriasis	1	1	RUSC2 (2)	0.00137	1.00000	4.747e-2	4.927e-2	
autosomal recessive cerebellar ataxia	Psoriasis	1	1	CWF19L1 (2)	0.00137	1.00000	4.747e-2	4.927e-2	
autosomal recessive osteopetrosis 5	Psoriasis	1	1	OSTM1 (2)	0.00137	1.00000	4.747e-2	4.927e-2	
BBS7-related ciliopathy	Psoriasis	1	1	BBS7 (2)	0.00137	1.00000	4.747e-2	4.927e-2	
Benign flecked retina	Psoriasis	1	1	PLA2G5 (3)	0.00137	1.00000	4.747e-2	4.927e-2	14
Ditra syndrome	Psoriasis	1	1	IL36RN (6)	0.00137	1.00000	4.747e-2	4.927e-2	
Global developmental delay	Turnpenny-fry syndrome	1	1	PCGF2 (5)	0.00269	0.50000	4.748e-2	4.927e-2	
Global developmental delay	Periventricular leukomalacia	1	1	RPS6KC1 (2)	0.00269	0.50000	4.748e-2	4.927e-2	
Diverticular disease	Interferon gamma receptor deficiency	1	1	IFNGR2 (2)	0.00397	0.33333	4.774e-2	4.953e-2	
Diverticular disease	multiple acyl-CoA dehydrogenase deficiency	1	1	ETFA (3)	0.00397	0.33333	4.774e-2	4.953e-2	
Hypothyroidism	Peroxisomal acyl-coa oxidase deficiency	1	1	TEN1 (2)	0.00266	0.50000	4.799e-2	4.979e-2	
Congenital stromal corneal dystrophy	Endometriosis	1	1	SPARCL1 (3)	0.00265	0.50000	4.824e-2	5.005e-2	
Hypertrophic cardiomyopathy	multiple acyl-CoA dehydrogenase deficiency	1	1	ETFDH (2)	0.00386	0.33333	4.906e-2	5.089e-2	
Glioma	Microscopic polyangiitis	1	0	CDH19 (1)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	1	1	NAF1 (2)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	Rin2 syndrome	1	1	RIN2 (5)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	lethal osteosclerotic bone dysplasia	1	1	FAM20C (2)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	leukodystrophy, hypomyelinating, 14	1	1	UFM1 (2)	0.00132	1.00000	4.923e-2	5.104e-2	
Giant cell tumor of bone	Glioma	1	0	H3-3A (1)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	Sarcosine dehydrogenase deficiency	1	1	SARDH (2)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	Sarcosinemia	1	1	SARDH (6)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	shwachman-diamond syndrome 2	1	1	EFL1 (2)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	systemic lupus erythematosus 18	1	1	PLD4 (2)	0.00132	1.00000	4.923e-2	5.104e-2	291
Glioma	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	1	1	RAP1B (2)	0.00132	1.00000	4.923e-2	5.104e-2	291
Glioma	neurodevelopmental disorder with or without seizures and gait abnormalities	1	1	GRIA4 (2)	0.00132	1.00000	4.923e-2	5.104e-2	
Glioma	otofaciocervical syndrome 2	1	1	PAX1 (2)	0.00132	1.00000	4.923e-2	5.104e-2	
bryant-li-bhoj neurodevelopmental syndrome 1	Glioma	1	1	H3-3A (2)	0.00132	1.00000	4.923e-2	5.104e-2	
Congenital anosmia	Hearing loss	1	0	TENM1 (1)	0.00257	0.50000	4.964e-2	5.146e-2	
Anosmia	Hearing loss	1	1	TENM1 (2)	0.00257	0.50000	4.964e-2	5.146e-2	
bleeding disorder, platelet-type, 22	Squamous cell carcinoma	1	1	EPHB2 (2)	0.00127	1.00000	5.124e-2	5.310e-2	
autosomal dominant combined immunodeficiency due to ERBIN deficiency	Squamous cell carcinoma	1	1	ERBIN (2)	0.00127	1.00000	5.124e-2	5.310e-2	
Citrin deficiency	Squamous cell carcinoma	1	1	SLC25A13 (4)	0.00127	1.00000	5.124e-2	5.310e-2	
Partial deletion of short arm of chromosome 3	Squamous cell carcinoma	1	1	CHL1 (2)	0.00127	1.00000	5.124e-2	5.310e-2	
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Squamous cell carcinoma	1	1	SLC6A17 (2)	0.00127	1.00000	5.124e-2	5.310e-2	
Riddle syndrome	Squamous cell carcinoma	1	1	RNF168 (7)	0.00127	1.00000	5.124e-2	5.310e-2	
myopathy with abnormal lipid metabolism	Squamous cell carcinoma	1	1	FLAD1 (2)	0.00127	1.00000	5.124e-2	5.310e-2	21
Squamous cell carcinoma	Vexas syndrome	1	1	UBA1 (5)	0.00127	1.00000	5.124e-2	5.310e-2	
immunodeficiency, common variable, 5	Squamous cell carcinoma	1	1	MS4A1 (2)	0.00127	1.00000	5.124e-2	5.310e-2	
Bile duct disease	Migraine	1	1	FECH (3)	0.00246	0.50000	5.179e-2	5.366e-2	
Dilated cardiomyopathy	Nephropathic cystinosis	1	0	TAX1BP3 (1)	0.00362	0.33333	5.225e-2	5.414e-2	
Intellectual developmental disorder	Malonyl-coa decarboxylase deficiency	1	1	MLYCD (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	maple syrup urine disease type 1A	1	1	BCKDHA (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	megalencephalic leukoencephalopathy with subcortical cysts 2a	1	1	HEPACAM (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	1	1	HEPACAM (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	NAA10-related syndrome	1	1	NAA10 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	neonatal-onset encephalopathy with rigidity and seizures	1	1	BRAT1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	1	1	SLC6A17 (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Richieri costa pereira syndrome	1	1	EIF4A3 (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Rigidity and multifocal seizure syndrome, lethal neonatal	1	1	BRAT1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Robin sequence with cleft mandible and limb anomalies	1	1	EIF4A3 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	neurodevelopmental disorder with cerebellar atrophy and with or without seizures	1	1	BRAT1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	neurodevelopmental disorder with severe motor impairment and absent language	1	1	DHX30 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	1	1	MED27 (2)	0.00123	1.00000	5.254e-2	5.423e-2	6
Intellectual developmental disorder	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	1	1	HNRNPK (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Oculocerebrorenal syndrome	1	1	OCRL (5)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	ornithine translocase deficiency	1	1	SLC25A15 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Paraparesis	1	1	TECPR2 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Partial deletion of short arm of chromosome 3	1	1	CHL1 (3)	0.00123	1.00000	5.254e-2	5.423e-2	
glutamate pyruvate transaminase 2 deficiency	Intellectual developmental disorder	1	1	GPT2 (2)	0.00123	1.00000	5.254e-2	5.423e-2	6
goldberg-shprintzen syndrome	Intellectual developmental disorder	1	1	KIFBP (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Hemiparkinsonism hemiatrophy syndrome	Intellectual developmental disorder	1	0	H3-3B (1)	0.00123	1.00000	5.254e-2	5.423e-2	
hereditary spastic paraplegia 18	Intellectual developmental disorder	1	1	ERLIN2 (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Early-onset epilepsy-intellectual disability-brain anomalies syndrome	Intellectual developmental disorder	1	1	PIGG (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	Intellectual developmental disorder	1	1	OTUD6B (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Ectopic thyroid tissue	Intellectual developmental disorder	1	1	FBXO31 (5)	0.00123	1.00000	5.254e-2	5.423e-2	
El-hayek-chahrour neurodevelopmental syndrome	Intellectual developmental disorder	1	1	KDM5A (5)	0.00123	1.00000	5.254e-2	5.423e-2	
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	Intellectual developmental disorder	1	1	KCNK4 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Intellectual developmental disorder short stature facial	1	1	FBXL3 (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Intellectual developmental disorder short stature facial speech	1	1	FBXL3 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	intellectual disability, autosomal recessive 61	1	1	RUSC2 (5)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	jaberi-elahi syndrome	1	1	GTPBP2 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Kidney atrophy	1	1	C12orf57 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Lethal neonatal rigidity and multifocal seizure syndrome	1	1	BRAT1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
holoprosencephaly 12 with or without pancreatic agenesis	Intellectual developmental disorder	1	1	CNOT1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
hyperprolinemia type 2	Intellectual developmental disorder	1	1	ALDH4A1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
hypomyelinating leukodystrophy 5	Intellectual developmental disorder	1	1	HYCC1 (3)	0.00123	1.00000	5.254e-2	5.423e-2	
hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Intellectual developmental disorder	1	1	UNC80 (2)	0.00123	1.00000	5.254e-2	5.423e-2	6
Intellectual developmental disorder	Intellectual developmental disorder dysmorphic	1	1	POU3F3 (2)	0.00123	1.00000	5.254e-2	5.423e-2	6
Intellectual developmental disorder	Intellectual developmental disorder dysmorphic hypotonia	1	1	KMT5B (5)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Intellectual developmental disorder dysmorphic ocular	1	1	MTSS2 (3)	0.00123	1.00000	5.254e-2	5.423e-2	6
Intellectual developmental disorder	Intellectual developmental disorder dysmorphic seizures	1	1	OTUD6B (5)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Intellectual developmental disorder growth metabolic	1	1	DIP2B (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Intellectual developmental disorder growth microcephaly	1	1	CTCF (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Intellectual developmental disorder peripheral neuropathy	1	1	NUDT2 (5)	0.00123	1.00000	5.254e-2	5.423e-2	6
Intellectual developmental disorder	Intellectual developmental disorder seizures dysmorphic gait	1	1	WDR26 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Intellectual developmental disorder seizures epilepsy	1	1	AP2M1 (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	schuurs-hoeijmakers syndrome	1	1	PACS1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	1	1	GATAD2B (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	Severe neonatal spondylometaphyseal dysplasia	1	1	SBDS (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	spinocerebellar ataxia type 42	1	1	CACNA1G (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	spinocerebellar ataxia type 5	1	1	SPTBN2 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	stankiewicz-isidor syndrome	1	1	PSMD12 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	syndromic X-linked intellectual disability Raymond type	1	1	ZDHHC9 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	syndromic X-linked intellectual disability Siderius type	1	1	PHF8 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Intellectual developmental disorder	X-linked intellectual disability, Cabezas type	1	1	CUL4B (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Branched-chain keto acid dehydrogenase kinase deficiency	Intellectual developmental disorder	1	1	BCKDK (5)	0.00123	1.00000	5.254e-2	5.423e-2	
Cimdag syndrome	Intellectual developmental disorder	1	1	VPS4A (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Clark-baraitser syndrome	Intellectual developmental disorder	1	1	TRIP12 (4)	0.00123	1.00000	5.254e-2	5.423e-2	6
congenital disorder of deglycosylation 1	Intellectual developmental disorder	1	1	NGLY1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Carnosinase deficiency	Intellectual developmental disorder	1	1	CNDP1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Carnosinemia	Intellectual developmental disorder	1	1	CNDP1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	Intellectual developmental disorder	1	1	VPS4A (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Cerebrocostomandibular syndrome	Intellectual developmental disorder	1	1	SNRPB (6)	0.00123	1.00000	5.254e-2	5.423e-2	
Chondroblastoma	Intellectual developmental disorder	1	1	H3-3B (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Chopra-amiel-gordon syndrome	Intellectual developmental disorder	1	1	ANKRD17 (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Acromelic frontonasal dysostosis	Intellectual developmental disorder	1	1	ZSWIM6 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
ACTL6A-related BAFopathy	Intellectual developmental disorder	1	1	ACTL6A (2)	0.00123	1.00000	5.254e-2	5.423e-2	
ALG3-congenital disorder of glycosylation	Intellectual developmental disorder	1	1	ALG3 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Allan-herndon-dudley syndrome	Intellectual developmental disorder	1	1	SLC16A2 (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Alpha-mannosidosis	Intellectual developmental disorder	1	1	MAN2B1 (4)	0.00123	1.00000	5.254e-2	5.423e-2	
aspartylglucosaminuria	Intellectual developmental disorder	1	1	AGA (2)	0.00123	1.00000	5.254e-2	5.423e-2	6
Autism-epilepsy syndrome	Intellectual developmental disorder	1	1	BCKDK (2)	0.00123	1.00000	5.254e-2	5.423e-2	
autosomal dominant epilepsy with auditory features	Intellectual developmental disorder	1	1	LGI1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
autosomal recessive spinocerebellar ataxia 14	Intellectual developmental disorder	1	1	SPTBN2 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
autosomal recessive spinocerebellar ataxia 20	Intellectual developmental disorder	1	1	SNX14 (3)	0.00123	1.00000	5.254e-2	5.423e-2	
Bafopathy	Intellectual developmental disorder	1	1	ACTL6A (2)	0.00123	1.00000	5.254e-2	5.423e-2	
basilicata-akhtar syndrome	Intellectual developmental disorder	1	1	MSL3 (2)	0.00123	1.00000	5.254e-2	5.423e-2	6
DDOST-congenital disorder of glycosylation	Intellectual developmental disorder	1	1	DDOST (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Dentici novelli neurodevelopmental syndrome	Intellectual developmental disorder	1	1	ZNF526 (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Developmental delay with behavioral abnormalities	Intellectual developmental disorder	1	1	ADGRL1 (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Developmental delay with overweight and facial dysmorphism	Intellectual developmental disorder	1	1	SRRM2 (5)	0.00123	1.00000	5.254e-2	5.423e-2	
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	Intellectual developmental disorder	1	1	QARS1 (2)	0.00123	1.00000	5.254e-2	5.423e-2	
Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome	Intellectual developmental disorder	1	1	QARS1 (4)	0.00123	1.00000	5.254e-2	5.423e-2	
Dalmatian hypouricemia	Gout	1	1	SLC22A12 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	Gout	1	1	QARS1 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome	Gout	1	1	QARS1 (5)	0.00122	1.00000	5.319e-2	5.482e-2	
DPM3-congenital disorder of glycosylation	Gout	1	1	DPM3 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Combined low ldl and fibrinogen	Gout	1	1	B4GALT1 (3)	0.00122	1.00000	5.319e-2	5.482e-2	
Congenital alpha-2-antiplasmin deficiency	Gout	1	1	SERPINF2 (3)	0.00122	1.00000	5.319e-2	5.482e-2	
congenital disorder of glycosylation with defective fucosylation 1	Gout	1	1	FUT8 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
B4GALT1-congenital disorder of glycosylation	Gout	1	1	B4GALT1 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Alpha-2-plasmin inhibitor deficiency	Gout	1	1	SERPINF2 (3)	0.00122	1.00000	5.319e-2	5.482e-2	
Congenital glucose-galactose malabsorption	Gout	1	1	SLC5A1 (3)	0.00122	1.00000	5.319e-2	5.482e-2	
Congenital plasmin inhibitor deficiency	Gout	1	1	SERPINF2 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	Wernicke encephalopathy	1	1	TKT (3)	0.00122	1.00000	5.319e-2	5.482e-2	
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Gout	1	1	KDF1 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	1	1	MED27 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	obsolete glaucoma 1, open angle, F	1	1	ASB10 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	Osteomalacia	1	1	MEPE (3)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	1	1	HPRT1 (3)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	mandibuloacral dysplasia progeroid syndrome	1	1	MTX2 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	meier-gorlin syndrome 2	1	1	ORC4 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	pyruvate kinase deficiency of red cells	1	1	PKLR (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	RFT1-congenital disorder of glycosylation	1	1	RFT1 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	RNASEH2C-related type 1 interferonopathy	1	1	RNASEH2C (2)	0.00122	1.00000	5.319e-2	5.482e-2	
glycogen storage disease I	Gout	1	1	G6PC1 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
glycogen storage disease V	Gout	1	1	PYGM (2)	0.00122	1.00000	5.319e-2	5.482e-2	
GNAT2-related retinopathy	Gout	1	1	GNAT2 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	GPR161-related medulloblastoma predisposition	1	1	GPR161 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	Tessadori-Van Haaften neurodevelopmental syndrome 3	1	1	H4C5 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	thrombocytopenia-absent radius syndrome	1	1	RBM8A (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	lesch-nyhan syndrome	1	1	HPRT1 (3)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	leukoencephalopathy with vanishing white matter 4	1	1	EIF2B4 (2)	0.00122	1.00000	5.319e-2	5.482e-2	
Gout	Intellectual developmental disorder peripheral neuropathy	1	1	NUDT2 (5)	0.00122	1.00000	5.319e-2	5.482e-2	
Cardiovascular disease	Periventricular leukomalacia	1	1	PLEKHG1 (2)	0.00230	0.50000	5.533e-2	5.701e-2	
Cardiovascular disease	Keratosis palmoplantaris papulosa	1	1	AAGAB (3)	0.00230	0.50000	5.533e-2	5.701e-2	
Cardiovascular disease	Thyroid hemiagenesis	1	1	PSMD3 (2)	0.00230	0.50000	5.533e-2	5.701e-2	
Burn-mckeown syndrome	Cardiovascular disease	1	1	POLR1A (3)	0.00230	0.50000	5.533e-2	5.701e-2	
Atrial fibrillation	Curly hair ankyloblepharon nail dysplasia syndrome	1	1	RIPK4 (3)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	cardiomyopathy, dilated, 2d	1	1	RPL3L (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	1	1	EXOSC5 (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Chopra-amiel-gordon syndrome	1	1	ANKRD17 (5)	0.00116	1.00000	5.605e-2	5.766e-2	
5-oxoprolinase deficiency	Atrial fibrillation	1	0	OPLAH (1)	0.00116	1.00000	5.605e-2	5.766e-2	
Absence of fingerprints-congenital milia syndrome	Atrial fibrillation	1	0	SMARCAD1 (1)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	ciliary dyskinesia, primary, 48, without situs inversus	1	1	NME5 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	COG5-congenital disorder of glycosylation	1	1	COG5 (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Colobomatous macrophthalmia microcornea syndrome	1	1	CRIM1 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	colorectal cancer, susceptibility to, 1	1	1	GALNT12 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Autoinflammation with episodic fever and immune dysregulation	1	1	SHARPIN (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	b-cell immunodeficiency, distal limb anomalies, and urogenital malformations	1	1	TOP2B (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	band heterotopia of brain	1	1	EML1 (2)	0.00116	1.00000	5.605e-2	5.766e-2	34
Atrial fibrillation	Hoxha-aliu syndrome	1	1	ERI1 (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	hyperphenylalaninemia due to DNAJC12 deficiency	1	1	DNAJC12 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	immunoskeletal dysplasia with neurodevelopmental abnormalities	1	1	EXTL3 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	inherited blood coagulation disorder	1	1	APOLD1 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	non-severe combined immunodeficiency due to COPG1 deficiency	1	1	COPG1 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Webb-dattani syndrome	1	1	ARNT2 (5)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	wiskott-aldrich syndrome 2	1	1	WIPF1 (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Yuksel-vogel-bauer syndrome	1	1	DLG5 (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	myopathy, centronuclear, 5	1	1	SPEG (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	nemaline myopathy 7	1	1	CFL2 (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	nephronophthisis 20	1	1	MAPKBP1 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	neurodegenerative disease	1	1	IRF2BPL (3)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	hemophagocytic lymphohistiocytosis due to RhoG deficiency	1	1	RHOG (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Hemorrhagic destruction of the brain subependymal calcification and cataracts	1	1	JAM3 (4)	0.00116	1.00000	5.605e-2	5.766e-2	34
Atrial fibrillation	hermansky-pudlak syndrome 6	1	1	HPS6 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	polyglucosan body myopathy type 2	1	1	GYG1 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	pseudohypoaldosteronism type 2D	1	1	KLHL3 (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	radio-tartaglia syndrome	1	1	SPEN (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Regressive neurodevelopmental disorder dystonia seizures	1	1	IRF2BPL (2)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	Rhizomelic dysplasia, ain-naz type	1	1	GNPNAT1 (4)	0.00116	1.00000	5.605e-2	5.766e-2	
Atrial fibrillation	RNASEH2A-related type 1 interferonopathy	1	1	RNASEH2A (2)	0.00116	1.00000	5.605e-2	5.766e-2	
1p36.33 duplication syndrome	Alzheimer disease	2	2	ATAD3A (3), ATAD3B (3)	0.00090	0.66667	5.625e-2	5.787e-2	
Ankylosing spondylitis	Interferon gamma receptor deficiency	1	1	IFNGR2 (2)	0.00316	0.33333	5.975e-2	6.147e-2	
Brody myopathy	Heart failure	1	1	ATP2A1 (6)	0.00212	0.50000	6.012e-2	6.184e-2	
Nonalcoholic fatty liver disease	Thiamine-responsive maple syrup urine disease	1	1	BCKDHB (2)	0.00313	0.33333	6.032e-2	6.204e-2	
Neurodevelopmental disorder	Sensory ataxia	1	1	RNF170 (3)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	1	1	SLC1A4 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	spinocerebellar ataxia, autosomal recessive 28	1	1	THG1L (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	Stress-induced neurodegenerative ataxia seizure syndrome	1	1	ADPRS (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	SYNCRIP-related neurodevelopmental disorder	1	1	SYNCRIP (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	syndromic X-linked intellectual disability Raymond type	1	1	ZDHHC9 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	Telangiectasia–intellectual disability–microcephaly–metaphyseal dysplasia–eye abnormalities–short stature syndrome	1	1	LRRC8C (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	Tessadori-Van Haaften neurodevelopmental syndrome 3	1	1	H4C5 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Intellectual developmental disorder seizures polymicrogyria	Neurodevelopmental disorder	1	1	TCP1 (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Intellectual disability with craniofacial dysmorphism and macrocephaly	Neurodevelopmental disorder	1	1	H1-4 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
intellectual disability-strabismus syndrome	Neurodevelopmental disorder	1	1	ADAT3 (3)	0.00106	1.00000	6.092e-2	6.248e-2	
kaya-barakat-masson syndrome	Neurodevelopmental disorder	1	1	YIF1B (2)	0.00106	1.00000	6.092e-2	6.248e-2	6
Neurodevelopmental disorder	Usmani-riazuddin syndrome	1	1	AP1G1 (5)	0.00106	1.00000	6.092e-2	6.248e-2	6
Intellectual developmental disorder dysmorphic strabismus	Neurodevelopmental disorder	1	1	ADAT3 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Intellectual developmental disorder seizures epilepsy	Neurodevelopmental disorder	1	1	AP2M1 (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Dworschak-punetha neurodevelopmental syndrome	Neurodevelopmental disorder	1	1	PLXNA1 (5)	0.00106	1.00000	6.092e-2	6.248e-2	6
Early-onset epilepsy-intellectual disability-brain anomalies syndrome	Neurodevelopmental disorder	1	1	PIGG (4)	0.00106	1.00000	6.092e-2	6.248e-2	
El-hayek-chahrour neurodevelopmental syndrome	Neurodevelopmental disorder	1	1	KDM5A (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	1	1	TRAPPC4 (5)	0.00106	1.00000	6.092e-2	6.248e-2	6
Neurodevelopmental disorder	neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	1	1	PPP1R21 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder with hypotonia, neuropathy, and deafness	1	1	SPTBN4 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	1	1	TRAPPC6B (4)	0.00106	1.00000	6.092e-2	6.248e-2	6
Neurodevelopmental disorder	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	1	1	NARS1 (6)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	1	1	NARS1 (6)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	1	1	MAPK8IP3 (5)	0.00106	1.00000	6.092e-2	6.248e-2	6
Neurodevelopmental disorder	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	1	1	DPH5 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	1	1	MED27 (5)	0.00106	1.00000	6.092e-2	6.248e-2	6
Neurodevelopmental disorder	neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	1	1	NSRP1 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	1	1	HNRNPK (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	Partial deletion of short arm of chromosome 3	1	1	CHL1 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	Perlman syndrome	1	1	DIS3L2 (6)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	PIP5K1C-related neurodevelopmental disorder	1	1	PIP5K1C (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	radio-tartaglia syndrome	1	1	SPEN (2)	0.00106	1.00000	6.092e-2	6.248e-2	
glutamate pyruvate transaminase 2 deficiency	Neurodevelopmental disorder	1	1	GPT2 (4)	0.00106	1.00000	6.092e-2	6.248e-2	6
glycosylphosphatidylinositol biosynthesis defect 15	Neurodevelopmental disorder	1	1	GPAA1 (3)	0.00106	1.00000	6.092e-2	6.248e-2	
Hemiparkinsonism hemiatrophy syndrome	Neurodevelopmental disorder	1	0	H3-3B (1)	0.00106	1.00000	6.092e-2	6.248e-2	
hereditary fructose intolerance	Neurodevelopmental disorder	1	1	ALDOB (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Hereditary sensory and autonomic neuropathy with spastic paraplegia	Neurodevelopmental disorder	1	1	CCT5 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
microcephalic primordial dwarfism due to RTTN deficiency	Neurodevelopmental disorder	1	1	RTTN (2)	0.00106	1.00000	6.092e-2	6.248e-2	
NAA10-related syndrome	Neurodevelopmental disorder	1	1	NAA10 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability	Neurodevelopmental disorder	1	1	NACC1 (6)	0.00106	1.00000	6.092e-2	6.248e-2	6
neurodegeneration, childhood-onset, with cerebellar atrophy	Neurodevelopmental disorder	1	1	AGTPBP1 (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Neurodevelopmental disorder	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	1	1	GEMIN5 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Brainstem dysplasia	Neurodevelopmental disorder	1	1	SMG9 (3)	0.00106	1.00000	6.092e-2	6.248e-2	6
Brunet-wagner neurodevelopmental syndrome	Neurodevelopmental disorder	1	1	RBL2 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Absence of fingerprints-congenital milia syndrome	Neurodevelopmental disorder	1	1	SMARCAD1 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Desanto-shinawi syndrome	Neurodevelopmental disorder	1	1	WAC (6)	0.00106	1.00000	6.092e-2	6.248e-2	
Developmental delay with dysmorphic facies and brain anomalies	Neurodevelopmental disorder	1	1	U2AF2 (4)	0.00106	1.00000	6.092e-2	6.248e-2	
Developmental delay with overweight and facial dysmorphism	Neurodevelopmental disorder	1	1	SRRM2 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Developmental delay with variable neurological abnormalities	Neurodevelopmental disorder	1	1	LMBRD2 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
CTR9-related neurodevelopmental disorder	Neurodevelopmental disorder	1	1	CTR9 (3)	0.00106	1.00000	6.092e-2	6.248e-2	
Argininosuccinic aciduria	Neurodevelopmental disorder	1	1	ASL (7)	0.00106	1.00000	6.092e-2	6.248e-2	
aspartylglucosaminuria	Neurodevelopmental disorder	1	1	AGA (2)	0.00106	1.00000	6.092e-2	6.248e-2	6
Ataxia, sensory, autosomal dominant	Neurodevelopmental disorder	1	1	RNF170 (3)	0.00106	1.00000	6.092e-2	6.248e-2	
Atypical absence seizure	Neurodevelopmental disorder	1	1	ADPRS (4)	0.00106	1.00000	6.092e-2	6.248e-2	
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations	Neurodevelopmental disorder	1	1	TOP2B (3)	0.00106	1.00000	6.092e-2	6.248e-2	
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	Neurodevelopmental disorder	1	1	EXOSC5 (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Neurodevelopmental disorder	1	1	UBTF (5)	0.00106	1.00000	6.092e-2	6.248e-2	
Chondroblastoma	Neurodevelopmental disorder	1	1	H3-3B (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Clark-baraitser syndrome	Neurodevelopmental disorder	1	1	TRIP12 (6)	0.00106	1.00000	6.092e-2	6.248e-2	6
Congenital cataract microcephaly intellectual disability syndrome	Neurodevelopmental disorder	1	1	MED25 (2)	0.00106	1.00000	6.092e-2	6.248e-2	
congenital disorder of glycosylation with defective fucosylation 2	Neurodevelopmental disorder	1	1	FCSK (2)	0.00106	1.00000	6.092e-2	6.248e-2	
Diabetes mellitus type 1	Intellectual developmental disorder speech peripheral neuropathy	1	1	NEMF (5)	0.00209	0.50000	6.100e-2	6.256e-2	
kidney disorder	Prostate cancer	1	1	SLC41A1 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
leukodystrophy, hypomyelinating, 18	Prostate cancer	1	1	DEGS1 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
leukodystrophy, hypomyelinating, 22	Prostate cancer	1	1	CLDN11 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
dyskeratosis congenita and related telomere biology disorder	Prostate cancer	1	1	RPA1 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
erythrokeratodermia variabilis et progressiva 4	Prostate cancer	1	1	KDSR (2)	0.00104	1.00000	6.248e-2	6.402e-2	
FAM111A-related skeletal dysplasia	Prostate cancer	1	1	FAM111A (2)	0.00104	1.00000	6.248e-2	6.402e-2	
Prostate cancer	Thrombocytopenia with platelet secretion defect	1	1	SLFN14 (3)	0.00104	1.00000	6.248e-2	6.402e-2	
Prostate cancer	thrombotic disease	1	1	MAST2 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
Prostate cancer	tooth agenesis, selective, 3	1	1	PAX9 (3)	0.00104	1.00000	6.248e-2	6.402e-2	
hyper-IgE recurrent infection syndrome 3, autosomal recessive	Prostate cancer	1	1	ZNF341 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
inherited blood coagulation disorder	Prostate cancer	1	1	APOLD1 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
Osteocraniostenosis	Prostate cancer	1	1	FAM111A (4)	0.00104	1.00000	6.248e-2	6.402e-2	
platelet-type bleeding disorder 20	Prostate cancer	1	1	SLFN14 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
Prostate cancer	RAD51D-related cancer predisposition	1	1	RAD51D (2)	0.00104	1.00000	6.248e-2	6.402e-2	
combined immunodeficiency due to GINS1 deficiency	Prostate cancer	1	1	GINS1 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
congenital disorder of glycosylation type 1E	Prostate cancer	1	1	DPM1 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
DPM3-congenital disorder of glycosylation	Prostate cancer	1	1	DPM3 (2)	0.00104	1.00000	6.248e-2	6.402e-2	
bleeding disorder, platelet-type, 22	Prostate cancer	1	1	EPHB2 (4)	0.00104	1.00000	6.248e-2	6.402e-2	
3-hydroxyisobutyric aciduria	Prostate cancer	1	1	HIBADH (3)	0.00104	1.00000	6.248e-2	6.402e-2	
alkylglycerone-phosphate synthase deficiency	Color vision deficiency	1	1	AGPS (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Biliary-renal-neuro-skeletal syndrome	Color vision deficiency	1	1	IFT56 (4)	0.00103	1.00000	6.274e-2	6.420e-2	
ciliary dyskinesia, primary, 53	Color vision deficiency	1	1	CLXN (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Clark-baraitser syndrome	Color vision deficiency	1	1	TRIP12 (5)	0.00103	1.00000	6.274e-2	6.420e-2	
colobomatous microphthalmia-rhizomelic dysplasia syndrome	Color vision deficiency	1	1	MAB21L2 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	dilated cardiomyopathy 2B	1	1	GATAD1 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
autosomal dominant epilepsy with auditory features	Color vision deficiency	1	1	LGI1 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
band heterotopia of brain	Color vision deficiency	1	1	EML1 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	phosphoenolpyruvate carboxykinase deficiency, cytosolic	1	1	PCK1 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	PLIN1-related familial partial lipodystrophy	1	1	PLIN1 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	primary ciliary dyskinesia 16	1	1	DNAL1 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	red color blindness	1	1	OPN1LW (4)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	1	1	EXOSC2 (5)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	Saccharopinuria	1	1	AASS (3)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	scott syndrome	1	1	ANO6 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	spastic paraplegia, intellectual disability, nystagmus, and obesity	1	1	KIDINS220 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	lethal osteosclerotic bone dysplasia	1	1	FAM20C (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	maple syrup urine disease type 1B	1	1	BCKDHB (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	MEGF8-related Carpenter syndrome	1	1	MEGF8 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	ventriculomegaly and arthrogryposis	1	1	KIDINS220 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	Ventriculomegaly with arthrogryposis	1	1	KIDINS220 (5)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	Webb-dattani syndrome	1	1	ARNT2 (5)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	GNAT2-related retinopathy	1	1	GNAT2 (3)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	goldberg-shprintzen syndrome	1	1	KIFBP (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	Hip dislocation-facial dysmorphism syndrome	1	1	TRIM33 (3)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	hyperlysinemia	1	1	AASS (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	immunodeficiency 76	1	1	FCHO1 (2)	0.00103	1.00000	6.274e-2	6.420e-2	
Color vision deficiency	Inflammatory demyelinating polyneuropathy	1	0	CNBD1 (1)	0.00103	1.00000	6.274e-2	6.420e-2	
Colorectal cancer	Hypochromic sideroblastic anemia	1	1	STEAP3 (6)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	Intellectual developmental disorder growth metabolic	1	1	DIP2B (3)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	pili torti-developmental delay-neurological abnormalities syndrome	1	1	HEPHL1 (2)	0.00102	1.00000	6.338e-2	6.482e-2	21
Colorectal cancer	Rin2 syndrome	1	1	RIN2 (5)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	spinocerebellar ataxia, autosomal recessive 23	1	1	TDP2 (2)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	glycogen storage disease VI	1	1	PYGL (2)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	GPR143-related foveal hypoplasia	1	1	GPR143 (2)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	1	1	PPP1R21 (2)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	neuropathy, hereditary sensory and autonomic, type 1C	1	1	SPTLC2 (2)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	Osteootohepatoenteric syndrome	1	1	UNC45A (5)	0.00102	1.00000	6.338e-2	6.482e-2	
Colorectal cancer	colorectal cancer, susceptibility to, 1	1	1	GALNT12 (2)	0.00102	1.00000	6.338e-2	6.482e-2	
Acantholytic blistering of oral and laryngeal mucosa	Colorectal cancer	1	1	DSG3 (4)	0.00102	1.00000	6.338e-2	6.482e-2	
Acces syndrome	Colorectal cancer	1	1	UBA2 (3)	0.00102	1.00000	6.338e-2	6.482e-2	
Chromosome 19q13.11 deletion syndrome	Colorectal cancer	1	1	UBA2 (2)	0.00102	1.00000	6.338e-2	6.482e-2	
3-methylcrotonyl-coa carboxylase deficiency	Substance abuse	1	1	MCCC2 (5)	0.00193	0.50000	6.590e-2	6.739e-2	2
Breast neoplasms	Progressive arterial occlusive disease with hypertension	1	1	DAP3 (2)	0.00193	0.50000	6.603e-2	6.752e-2	
primary ciliary dyskinesia 19	Scoliosis	1	1	DNAAF11 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
optic atrophy 11	Scoliosis	1	1	YME1L1 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
Partial deletion of short arm of chromosome 3	Scoliosis	1	1	CHL1 (2)	0.00097	1.00000	6.709e-2	6.855e-2	2
Hypervalinemia	Scoliosis	1	1	BCAT2 (5)	0.00097	1.00000	6.709e-2	6.855e-2	
hypervalinemia and hyperleucine-isoleucinemia	Scoliosis	1	1	BCAT2 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
Intellectual developmental disorder seizures dysmorphic gait	Scoliosis	1	1	WDR26 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Scoliosis	1	1	POMP (6)	0.00097	1.00000	6.709e-2	6.855e-2	
familial hemophagocytic lymphohistiocytosis 4	Scoliosis	1	1	STX11 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
gaze palsy, familial horizontal, with progressive scoliosis 1	Scoliosis	1	1	ROBO3 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
glycosylphosphatidylinositol biosynthesis defect 17	Scoliosis	1	1	PIGH (2)	0.00097	1.00000	6.709e-2	6.855e-2	
hermansky-pudlak syndrome 5	Scoliosis	1	1	HPS5 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
Scoliosis	Webb-dattani syndrome	1	1	ARNT2 (5)	0.00097	1.00000	6.709e-2	6.855e-2	
Autoinflammatory disease, systemic, with vasculitis	Scoliosis	1	1	LYN (4)	0.00097	1.00000	6.709e-2	6.855e-2	
Borderline personality disorder	Scoliosis	1	0	TPH1 (1)	0.00097	1.00000	6.709e-2	6.855e-2	
Cerebrofacial arteriovenous metameric syndrome	Scoliosis	1	1	GNA14 (2)	0.00097	1.00000	6.709e-2	6.855e-2	
Delayed sleep phase syndrome	Scoliosis	1	1	CRY1 (3)	0.00097	1.00000	6.709e-2	6.855e-2	
3-methylcrotonyl-coa carboxylase deficiency	Parkinson disease	1	1	MCCC1 (5)	0.00188	0.50000	6.753e-2	6.899e-2	2
Brody myopathy	Parkinson disease	1	1	RABEP2 (2)	0.00188	0.50000	6.753e-2	6.899e-2	
Nephronophthisis-like nephropathy	Parkinson disease	1	1	SLC41A1 (4)	0.00188	0.50000	6.753e-2	6.899e-2	
Parkinson disease	Thyroid hemiagenesis	1	1	VPS13C (6)	0.00188	0.50000	6.753e-2	6.899e-2	
Breast cancer	scalp-ear-nipple syndrome	1	1	KCTD1 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	Thrombocytopenia with platelet secretion defect	1	1	SLFN14 (3)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	thrombotic disease	1	1	MAST2 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	tooth agenesis, selective, 3	1	1	PAX9 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	platelet-type bleeding disorder 20	1	1	SLFN14 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	NTHL1-deficiency tumor predisposition syndrome	1	1	NTHL1 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	Midline facial cleft	1	1	PCSK7 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	nephronophthisis-like nephropathy 1	1	1	XPNPEP3 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	glycosylphosphatidylinositol biosynthesis defect 17	1	1	PIGH (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	GPR161-related medulloblastoma predisposition	1	1	GPR161 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	C3hex olfactory ability	1	1	OR2J3 (2)	0.00094	1.00000	6.923e-2	7.068e-2	21
Breast cancer	Congenital cataract severe neonatal hepatopathy developmental delay syndrome	1	1	CYP51A1 (3)	0.00094	1.00000	6.923e-2	7.068e-2	
BBS2-related ciliopathy	Breast cancer	1	1	BBS2 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
acyl-CoA binding domain containing protein 5 deficiency	Breast cancer	1	1	ACBD5 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Acyl-coa binding domain containing protein deficiency	Breast cancer	1	1	ACBD5 (2)	0.00094	1.00000	6.923e-2	7.068e-2	
Breast cancer	Curly hair ankyloblepharon nail dysplasia syndrome	1	1	RIPK4 (3)	0.00094	1.00000	6.923e-2	7.068e-2	
Asthma	Cleft palate proliferative retinopathy developmental delay	1	1	LRRC32 (4)	0.00094	1.00000	6.936e-2	7.078e-2	
Asthma	Diaphanospondylodysostosis	1	1	BMPER (6)	0.00094	1.00000	6.936e-2	7.078e-2	
Asthma	Catifa syndrome	1	1	RIC1 (5)	0.00094	1.00000	6.936e-2	7.078e-2	
Asthma	Charcot-Marie-Tooth disease, axonal, type 2FF	1	1	CADM3 (2)	0.00094	1.00000	6.936e-2	7.078e-2	
Asthma	Rothmund-Thomson syndrome type 1	1	1	ANAPC1 (2)	0.00094	1.00000	6.936e-2	7.078e-2	
Asthma	SEC61B-related polycystic liver disease	1	1	SEC61B (2)	0.00094	1.00000	6.936e-2	7.078e-2	
Asthma	seizures, early-onset, with neurodegeneration and brain calcifications	1	1	NRROS (2)	0.00094	1.00000	6.936e-2	7.078e-2	
Asthma	Udp-glucose-hexose-1-phosphate uridylyltransferase	1	1	GALT (2)	0.00094	1.00000	6.936e-2	7.078e-2	
Insomnia	Van esch-o’driscoll syndrome	1	1	POLA1 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
Insomnia	vertebral, cardiac, renal, and limb defects syndrome 1	1	1	HAAO (2)	0.00093	1.00000	7.007e-2	7.144e-2	
Insomnia	X-linked reticulate pigmentary disorder	1	1	POLA1 (5)	0.00093	1.00000	7.007e-2	7.144e-2	
glutaryl-CoA dehydrogenase deficiency	Insomnia	1	1	GCDH (2)	0.00093	1.00000	7.007e-2	7.144e-2	
immunodeficiency 23	Insomnia	1	1	PGM3 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
Insomnia	myopathy caused by variation in POMGNT2	1	1	POMGNT2 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
Insomnia	Oculocerebrodental syndrome	1	1	PIK3C2A (3)	0.00093	1.00000	7.007e-2	7.144e-2	2
Insomnia	Oculocerebrofacial syndrome	1	1	UBE3B (4)	0.00093	1.00000	7.007e-2	7.144e-2	
Insomnia	oculocerebrofacial syndrome, Kaufman type	1	1	UBE3B (2)	0.00093	1.00000	7.007e-2	7.144e-2	
fanconi anemia complementation group e	Insomnia	1	1	FANCE (2)	0.00093	1.00000	7.007e-2	7.144e-2	
carnitine-acylcarnitine translocase deficiency	Insomnia	1	1	SLC25A20 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
COG5-congenital disorder of glycosylation	Insomnia	1	1	COG5 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
Congenital myelofibrosis with anemia	Insomnia	1	1	RBSN (3)	0.00093	1.00000	7.007e-2	7.144e-2	
Craniolenticulosutural dysplasia	Insomnia	1	1	SEC23A (6)	0.00093	1.00000	7.007e-2	7.144e-2	2
Benign familial pemphigus	Insomnia	1	1	ATP2C1 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
C3hex olfactory ability	Insomnia	1	1	OR2J3 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
Developmental delay with dysmorphic facies and brain anomalies	Insomnia	1	1	U2AF2 (5)	0.00093	1.00000	7.007e-2	7.144e-2	
Autoinflammation with pulmonary and cutaneous vasculitis	Insomnia	1	1	HCK (4)	0.00093	1.00000	7.007e-2	7.144e-2	
Autoinflammatory disease, systemic, with vasculitis	Insomnia	1	1	LYN (4)	0.00093	1.00000	7.007e-2	7.144e-2	
BBS1-related ciliopathy	Insomnia	1	1	BBS1 (2)	0.00093	1.00000	7.007e-2	7.144e-2	
adams-oliver syndrome 4	Insomnia	1	1	EOGT (2)	0.00093	1.00000	7.007e-2	7.144e-2	
Hypothyroidism	Nephropathic cystinosis	1	1	SLC66A1 (2)	0.00265	0.33333	7.112e-2	7.250e-2	
Mountain sickness	Obstructive pulmonary disease	1	0	AEBP2 (1)	0.00178	0.50000	7.129e-2	7.267e-2	
Oligodendroglioma	Thyroid hemiagenesis	1	1	VPS13C (2)	0.00178	0.50000	7.129e-2	7.267e-2	
Attention deficit hyperactivity disorder	STT3A-congenital disorder of glycosylation	1	1	STT3A (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	mucopolysaccharidosis type 6	1	1	ARSB (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	leukocyte adhesion deficiency type II	1	1	SLC35C1 (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	primary ciliary dyskinesia 32	1	1	RSPH3 (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	retinitis pigmentosa 18	1	1	PRPF3 (2)	0.00090	1.00000	7.176e-2	7.309e-2	2
Attention deficit hyperactivity disorder	X-linked ichthyosis with steryl-sulfatase deficiency	1	1	STS (3)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Young syndrome	1	1	CFAP221 (3)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Intellectual developmental disorder behavioral short stature	1	1	PUS7 (4)	0.00090	1.00000	7.176e-2	7.309e-2	
agammaglobulinemia 4, autosomal recessive	Attention deficit hyperactivity disorder	1	1	BLNK (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Al kaissi syndrome	Attention deficit hyperactivity disorder	1	0	CDK10 (1)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	cardiomyopathy, dilated, 2j	1	1	FLII (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Cerebral arterial disease	1	0	ADGRE3 (1)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Cohen-gibson syndrome	1	1	EED (6)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	congenital disorder of glycosylation, type Iw, autosomal dominant	1	1	STT3A (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Benign essential blepharospasm	1	1	DRD5 (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Bilateral cleft lip	1	1	PLEKHA5 (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Blepharospasm	1	1	DRD5 (3)	0.00090	1.00000	7.176e-2	7.309e-2	
Attention deficit hyperactivity disorder	Delayed sleep phase syndrome	1	1	CRY1 (2)	0.00090	1.00000	7.176e-2	7.309e-2	
Myocardial infarction	Periventricular leukomalacia	1	1	PLEKHG1 (2)	0.00172	0.50000	7.392e-2	7.528e-2	
Coronary artery disease	polycystic liver disease 2	1	1	SEC63 (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	immunodeficiency 126, susceptibility to	1	1	PTCRA (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	Intellectual developmental disorder growth metabolic	1	1	DIP2B (3)	0.00087	1.00000	7.423e-2	7.556e-2	34
Coronary artery disease	Genetic transient congenital hypothyroidism	1	1	DUOX2 (3)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	hemochromatosis type 2A	1	1	HJV (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	TMEM165-congenital disorder of glycosylation	1	1	TMEM165 (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	tooth agenesis, selective, 9	1	1	GREM2 (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	macular corneal dystrophy	1	1	CHST6 (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	VPS11-related neurological disorder	1	1	VPS11 (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	1	1	KDF1 (2)	0.00087	1.00000	7.423e-2	7.556e-2	
Coronary artery disease	Cytosolic acetoacetyl-coa thiolase deficiency	1	1	ACAT2 (2)	0.00087	1.00000	7.423e-2	7.556e-2	
band heterotopia of brain	Coronary artery disease	1	1	EML1 (2)	0.00087	1.00000	7.423e-2	7.556e-2	34
Barth syndrome	Coronary artery disease	1	1	TAFAZZIN (6)	0.00087	1.00000	7.423e-2	7.556e-2	
Arthrogryposis with anterior horn cell disease	Hypertension	1	1	GLE1 (2)	0.00087	1.00000	7.462e-2	7.591e-2	
Autoinflammatory disease, systemic, with vasculitis	Hypertension	1	1	LYN (4)	0.00087	1.00000	7.462e-2	7.591e-2	
Bartter disease type 2	Hypertension	1	1	KCNJ1 (3)	0.00087	1.00000	7.462e-2	7.591e-2	
Congenital arthrogryposis with anterior horn cell disease	Hypertension	1	1	GLE1 (3)	0.00087	1.00000	7.462e-2	7.591e-2	
fanconi anemia complementation group l	Hypertension	1	1	FANCL (2)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	telangiectasia, hereditary hemorrhagic, type 5	1	1	GDF2 (2)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	immunodeficiency-centromeric instability-facial anomalies syndrome 4	1	1	HELLS (2)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	MPI-congenital disorder of glycosylation	1	1	MPI (2)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	Primary hypomagnesemia with hypocalciuria	1	1	FXYD2 (3)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	renal hypomagnesemia 2	1	1	FXYD2 (3)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	Wernicke encephalopathy	1	1	TKT (3)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	LIPE-related familial partial lipodystrophy	1	1	LIPE (2)	0.00087	1.00000	7.462e-2	7.591e-2	
Hypertension	opsismodysplasia	1	1	INPPL1 (3)	0.00087	1.00000	7.462e-2	7.591e-2	
Birk-aharoni syndrome	Dementia	1	1	PSMC1 (3)	0.00169	0.50000	7.517e-2	7.646e-2	2
Acral peeling skin syndrome	Glioblastoma	1	1	CSTA (2)	0.00164	0.50000	7.729e-2	7.862e-2	
Alopecia universalis	Obesity	1	0	HR (1)	0.00084	1.00000	7.754e-2	7.878e-2	
Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	Obesity	1	1	ACP5 (2)	0.00084	1.00000	7.754e-2	7.878e-2	
congenital disorder of glycosylation with defective fucosylation 2	Obesity	1	1	FCSK (2)	0.00084	1.00000	7.754e-2	7.878e-2	
congenital disorder of glycosylation, type 2v	Obesity	1	1	EDEM3 (2)	0.00084	1.00000	7.754e-2	7.878e-2	
BBS4-related ciliopathy	Obesity	1	1	BBS4 (2)	0.00084	1.00000	7.754e-2	7.878e-2	
Dalmatian hypouricemia	Obesity	1	1	SLC22A12 (2)	0.00084	1.00000	7.754e-2	7.878e-2	
Developmental delay due to metabolic enzyme deficiency	Obesity	1	1	ALDH6A1 (3)	0.00084	1.00000	7.754e-2	7.878e-2	
Obesity	opsismodysplasia	1	1	INPPL1 (2)	0.00084	1.00000	7.754e-2	7.878e-2	2
Obesity	Pancreatic beta-cell agenesis with neonatal diabetes mellitus	1	1	PTF1A (2)	0.00084	1.00000	7.754e-2	7.878e-2	
medium chain acyl-coa dehydrogenase deficiency	Obesity	1	1	ACADM (3)	0.00084	1.00000	7.754e-2	7.878e-2	
methemoglobinemia type 4	Obesity	1	1	CYB5A (3)	0.00084	1.00000	7.754e-2	7.878e-2	
methylmalonate semialdehyde dehydrogenase deficiency	Obesity	1	1	ALDH6A1 (3)	0.00084	1.00000	7.754e-2	7.878e-2	
mitochondrial short-chain enoyl-coa hydratase 1 deficiency	Obesity	1	1	ECHS1 (3)	0.00084	1.00000	7.754e-2	7.878e-2	
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability	Obesity	1	1	NACC1 (2)	0.00084	1.00000	7.754e-2	7.878e-2	
Nasopalpebral lipoma-coloboma syndrome	Obesity	1	1	ZDBF2 (3)	0.00084	1.00000	7.754e-2	7.878e-2	
Hyperinflammatory lymphoproliferative immunodeficiency	Obesity	1	1	NCKAP1L (2)	0.00084	1.00000	7.754e-2	7.878e-2	
immunodeficiency 72 with autoinflammation	Obesity	1	1	NCKAP1L (2)	0.00084	1.00000	7.754e-2	7.878e-2	
inflammatory bowel disease 28	Obesity	1	1	IL10RA (2)	0.00084	1.00000	7.754e-2	7.878e-2	
Essential pentosuria	Obesity	1	1	DCXR (3)	0.00084	1.00000	7.754e-2	7.878e-2	
Obesity	Spasticity with hyperglycinemia	1	1	GLRX5 (3)	0.00084	1.00000	7.754e-2	7.878e-2	
Obesity	Tay-Sachs disease AB variant	1	1	GM2A (2)	0.00084	1.00000	7.754e-2	7.878e-2	
hawkinsinuria	Obesity	1	1	HPD (2)	0.00084	1.00000	7.754e-2	7.878e-2	
Isobutyryl-coa dehydrogenase deficiency	Obesity	1	1	ACAD8 (3)	0.00084	1.00000	7.754e-2	7.878e-2	
Obesity	PLIN1-related familial partial lipodystrophy	1	1	PLIN1 (3)	0.00084	1.00000	7.754e-2	7.878e-2	
Obesity	tyrosinemia type III	1	1	HPD (2)	0.00084	1.00000	7.754e-2	7.878e-2	
Obesity	White blood cell count quantitative trait locus	1	1	ACKR1 (2)	0.00084	1.00000	7.754e-2	7.878e-2	
Progressive arterial occlusive disease with hypertension	Ulcerative colitis	1	1	DAP3 (2)	0.00163	0.50000	7.779e-2	7.903e-2	
Bipolar disorder	retinitis pigmentosa 18	1	1	PRPF3 (2)	0.00082	1.00000	7.923e-2	8.037e-2	2
Bipolar disorder	STT3A-congenital disorder of glycosylation	1	1	STT3A (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2	1	1	MOCS3 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	syndromic X-linked intellectual disability Siderius type	1	1	PHF8 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	holocarboxylase synthetase deficiency	1	1	HLCS (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	hyperprolinemia type 1	1	1	PRODH (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	hypotaurinemic retinal degeneration and cardiomyopathy	1	1	SLC6A6 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	inherited interstitial lung disease	1	1	LAMP3 (2)	0.00082	1.00000	7.923e-2	8.037e-2	2
Bipolar disorder	Intellectual developmental disorder behavioral short stature	1	1	PUS7 (4)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Oculocerebrodental syndrome	1	1	PIK3C2A (3)	0.00082	1.00000	7.923e-2	8.037e-2	2
Bipolar disorder	nephronophthisis-like nephropathy 1	1	1	XPNPEP3 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	dyskeratosis congenita and related telomere biology disorder	1	1	RPA1 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	X-linked epilepsy with or without intellectual disability and dysmorphic features	1	1	GABRA3 (4)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	xanthinuria type II	1	1	MOCOS (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	glycogen storage disease III	1	1	AGL (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Intellectual developmental disorder short stature facial	1	1	FBXL3 (3)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Intellectual developmental disorder short stature facial speech	1	1	FBXL3 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	leukodystrophy, hypomyelinating, 22	1	1	CLDN11 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Maleylacetoacetate isomerase deficiency	1	1	GSTZ1 (5)	0.00082	1.00000	7.923e-2	8.037e-2	
Benign essential blepharospasm	Bipolar disorder	1	1	DRD5 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
BH4-deficient hyperphenylalaninemia A	Bipolar disorder	1	1	PTS (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Blepharospasm	1	1	DRD5 (3)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Braddock-carey syndrome	1	1	KIF15 (4)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Congenital intrinsic factor deficiency	1	1	CBLIF (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Cayman type cerebellar ataxia	1	1	ATCAY (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Cerebral arterial disease	1	0	ADGRE3 (1)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Cerebrofacial arteriovenous metameric syndrome	1	1	GNA14 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	Charcot-Marie-Tooth disease, axonal, type 2FF	1	1	CADM3 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
autosomal dominant cerebellar ataxia	Bipolar disorder	1	1	NPTX1 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
21q22.11q22.12 microdeletion syndrome	Bipolar disorder	1	1	KIF15 (3)	0.00082	1.00000	7.923e-2	8.037e-2	
Al kaissi syndrome	Bipolar disorder	1	0	CDK10 (1)	0.00082	1.00000	7.923e-2	8.037e-2	
anemia, congenital dyserythropoietic, type 1a	Bipolar disorder	1	1	CDAN1 (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	combined immunodeficiency due to STK4 deficiency	1	1	STK4 (4)	0.00082	1.00000	7.923e-2	8.037e-2	
Bipolar disorder	congenital disorder of glycosylation, type Iw, autosomal dominant	1	1	STT3A (2)	0.00082	1.00000	7.923e-2	8.037e-2	
Kidney disease	multiple acyl-CoA dehydrogenase deficiency	1	1	ETFB (2)	0.00234	0.33333	8.054e-2	8.169e-2	
Hepatocellular carcinoma	Peroxisomal acyl-coa oxidase deficiency	1	1	ACOX1 (5)	0.00154	0.50000	8.252e-2	8.368e-2	
Congenital chronic diarrhea with protein-losing enteropathy	Hepatocellular carcinoma	1	1	PLVAP (3)	0.00154	0.50000	8.252e-2	8.368e-2	
Acral peeling skin syndrome	Lung cancer	1	1	TGM5 (2)	0.00154	0.50000	8.252e-2	8.368e-2	
Atelis syndrome	Lung cancer	1	1	SLF2 (4)	0.00154	0.50000	8.252e-2	8.368e-2	
Systemic lupus erythematosus	Thiamine metabolism dysfunction syndrome	1	1	SLC25A19 (3)	0.00152	0.50000	8.314e-2	8.431e-2	
Metabolic syndrome	SF3B4-related acrofacial dysostosis	1	1	SF3B4 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Metabolic syndrome	protoporphyria, erythropoietic, 1	1	1	FECH (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Metabolic syndrome	Ribose 5-phosphate isomerase deficiency	1	1	RPIA (5)	0.00077	1.00000	8.462e-2	8.572e-2	
Metabolic syndrome	Ribose-5-phosphate isomerase deficiency	1	1	RPIA (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Metabolic syndrome	Midline facial cleft	1	1	PCSK7 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Metabolic syndrome	Nasopalpebral lipoma-coloboma syndrome	1	1	ZDBF2 (3)	0.00077	1.00000	8.462e-2	8.572e-2	
Metabolic syndrome	opsismodysplasia	1	1	INPPL1 (3)	0.00077	1.00000	8.462e-2	8.572e-2	2
fanconi anemia complementation group p	Metabolic syndrome	1	1	SLX4 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
auriculocondylar syndrome 2	Metabolic syndrome	1	1	PLCB4 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
autosomal recessive osteopetrosis 8	Metabolic syndrome	1	1	SNX10 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Dihydropyrimidinase deficiency	Metabolic syndrome	1	1	DPYS (5)	0.00077	1.00000	8.462e-2	8.572e-2	
Dimethylglycine dehydrogenase deficiency	Metabolic syndrome	1	1	DMGDH (7)	0.00077	1.00000	8.462e-2	8.572e-2	
BH4-deficient hyperphenylalaninemia A	Metabolic syndrome	1	1	PTS (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Bilateral cleft lip	Metabolic syndrome	1	1	PLEKHA5 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
bile acid CoA:amino acid N-acyltransferase deficiency	Metabolic syndrome	1	1	BAAT (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Bile acid conjugation defect	Metabolic syndrome	1	1	BAAT (5)	0.00077	1.00000	8.462e-2	8.572e-2	
CEP164-related ciliopathy	Metabolic syndrome	1	1	CEP164 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	Metabolic syndrome	1	1	VPS4A (4)	0.00077	1.00000	8.462e-2	8.572e-2	
ciliary dyskinesia, primary, 49, without situs inversus	Metabolic syndrome	1	1	CFAP74 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Cimdag syndrome	Metabolic syndrome	1	1	VPS4A (3)	0.00077	1.00000	8.462e-2	8.572e-2	
COG8-congenital disorder of glycosylation	Metabolic syndrome	1	1	COG8 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Colobomatous macrophthalmia microcornea syndrome	Metabolic syndrome	1	1	CRIM1 (2)	0.00077	1.00000	8.462e-2	8.572e-2	
Crohn disease	Progressive arterial occlusive disease with hypertension	1	1	DAP3 (2)	0.00145	0.50000	8.762e-2	8.875e-2	
Degenerative polyarthritis	Osteoarthritis	1	1	FRZB (3)	0.00137	0.50000	9.257e-2	9.377e-2	
Autism	Deafness, y-linked	1	1	TBL1Y (4)	0.00068	1.00000	9.501e-2	9.604e-2	2
Autism	Desmosterolosis	1	1	DHCR24 (7)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Developmental delay due to metabolic enzyme deficiency	1	1	ALDH6A1 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Cohen-gibson syndrome	1	1	EED (6)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	congenital disorder of glycosylation, type Iw, autosomal dominant	1	1	STT3A (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Corneal injury	1	1	ALDH3A1 (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Argininosuccinic aciduria	Autism	1	1	ASL (7)	0.00068	1.00000	9.501e-2	9.604e-2	
Arthrogryposis with neurodevelopmental impairment and seizures	Autism	1	1	SLC35A3 (6)	0.00068	1.00000	9.501e-2	9.604e-2	
aspartylglucosaminuria	Autism	1	1	AGA (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Autism-epilepsy syndrome	1	1	BCKDK (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	carnitine-acylcarnitine translocase deficiency	1	1	SLC25A20 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Cerebral arterial disease	1	0	ADGRE3 (1)	0.00068	1.00000	9.501e-2	9.604e-2	
2-methylbutyryl-coa dehydrogenase deficiency	Autism	1	1	ACADSB (5)	0.00068	1.00000	9.501e-2	9.604e-2	
Adenylosuccinate lyase deficiency	Autism	1	1	ADSL (4)	0.00068	1.00000	9.501e-2	9.604e-2	
Al kaissi syndrome	Autism	1	0	CDK10 (1)	0.00068	1.00000	9.501e-2	9.604e-2	
Aminoaciduria	Autism	1	0	CLTRN (1)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Bosch-boonstra-schaaf optic atrophy syndrome	1	1	NR2F1 (6)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Brainstem dysplasia	1	0	SMG9 (1)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Branched-chain keto acid dehydrogenase kinase deficiency	1	1	BCKDK (5)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	primary ciliary dyskinesia 10	1	1	DNAAF2 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	primary ciliary dyskinesia 11	1	1	RSPH4A (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	primary ciliary dyskinesia 13	1	1	DNAAF1 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	primary ciliary dyskinesia 14	1	1	CCDC39 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	primary ciliary dyskinesia 20	1	1	ODAD1 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	primary ciliary dyskinesia 9	1	1	DNAI2 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	retinitis pigmentosa 18	1	1	PRPF3 (2)	0.00068	1.00000	9.501e-2	9.604e-2	2
Autism	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	1	1	SLC1A4 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	STT3A-congenital disorder of glycosylation	1	1	STT3A (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	SYNCRIP-related neurodevelopmental disorder	1	1	SYNCRIP (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	1	1	FOXN1 (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Thiopurine s-methyltransferase deficiency	1	1	TPMT (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	1	1	UNC80 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Intellectual developmental disorder behavioral short stature	1	1	PUS7 (4)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Intellectual developmental disorder growth seizures	1	1	ABCA2 (4)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	intellectual developmental disorder with speech delay and axonal peripheral neuropathy	1	1	NEMF (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	macular corneal dystrophy	1	1	CHST6 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	megalencephalic leukoencephalopathy with subcortical cysts 2a	1	1	HEPACAM (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	1	1	HEPACAM (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	methylmalonate semialdehyde dehydrogenase deficiency	1	1	ALDH6A1 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	mucopolysaccharidosis type 4A	1	1	GALNS (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Paraparesis	1	1	TECPR2 (2)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	gaze palsy, familial horizontal, with progressive scoliosis 1	1	1	ROBO3 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	Hemorrhagic destruction of the brain subependymal calcification and cataracts	1	1	JAM3 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	tumor predisposition syndrome 2	1	1	MBD4 (3)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	X-linked epilepsy with or without intellectual disability and dysmorphic features	1	1	GABRA3 (5)	0.00068	1.00000	9.501e-2	9.604e-2	
Autism	X-linked hereditary motor and sensory neuropathy	1	0	DRP2 (1)	0.00068	1.00000	9.501e-2	9.604e-2	
Atelis syndrome	Squamous cell carcinoma	1	1	SLF2 (4)	0.00126	0.50000	9.986e-2	1.009e-1	
Intellectual developmental disorder	Turnpenny-fry syndrome	1	1	PCGF2 (5)	0.00123	0.50000	1.023e-1	1.034e-1	
Intellectual developmental disorder	Ververi-brady syndrome	1	1	QRICH1 (4)	0.00123	0.50000	1.023e-1	1.034e-1	
Gout	Pyruvate kinase deficiency	1	1	PKLR (2)	0.00122	0.50000	1.036e-1	1.046e-1	
Gout	Renal glycosuria	1	1	SLC5A1 (2)	0.00122	0.50000	1.036e-1	1.046e-1	
1p36.33 duplication syndrome	Prostatic neoplasms	1	1	ATAD3A (3)	0.00159	0.33333	1.173e-1	1.185e-1	
adult neuronal ceroid lipofuscinosis	Neurodevelopmental disorder	1	1	CTSF (2)	0.00106	0.50000	1.181e-1	1.194e-1	
Central nervous system malformation	Neurodevelopmental disorder	1	1	LMNB2 (2)	0.00106	0.50000	1.181e-1	1.194e-1	
Neurodevelopmental disorder	Ververi-brady syndrome	1	1	SEPHS1 (3)	0.00106	0.50000	1.181e-1	1.194e-1	
Color vision deficiency	White spongue nevus	1	1	KRT13 (5)	0.00103	0.50000	1.215e-1	1.228e-1	
Major depressive disorder	TRIP11-related skeletal dysplasia	1	1	TRIP11 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	Vibratory urticaria	1	1	ADGRE2 (6)	0.00051	1.00000	1.273e-1	1.284e-1	2
Major depressive disorder	Wernicke encephalopathy	1	1	TKT (3)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	Yoon-bellen neurodevelopmental syndrome	1	1	OGDHL (3)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	Zinc deficiency	1	1	SLC30A2 (3)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	zinc deficiency, transient neonatal	1	1	SLC30A2 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	primary ciliary dyskinesia 9	1	1	DNAI2 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	Mak-related retinopathy	1	1	MAK (3)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	SNRNP200-related dominant retinopathy	1	1	SNRNP200 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	syndromic X-linked intellectual disability Siderius type	1	1	PHF8 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	systemic lupus erythematosus 17	1	1	TLR7 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	Telangiectasia–intellectual disability–microcephaly–metaphyseal dysplasia–eye abnormalities–short stature syndrome	1	1	LRRC8C (3)	0.00051	1.00000	1.273e-1	1.284e-1	
hyperphenylalaninemia due to DNAJC12 deficiency	Major depressive disorder	1	1	DNAJC12 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
hypotaurinemic retinal degeneration and cardiomyopathy	Major depressive disorder	1	1	SLC6A6 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
immunodeficiency, common variable, 5	Major depressive disorder	1	1	MS4A1 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Galactose mutarotase deficiency	Major depressive disorder	1	1	GALM (2)	0.00051	1.00000	1.273e-1	1.284e-1	
galactosemia 4	Major depressive disorder	1	1	GALM (2)	0.00051	1.00000	1.273e-1	1.284e-1	
hereditary leiomyomatosis and renal cell cancer	Major depressive disorder	1	1	FH (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Major depressive disorder	Peho-like syndrome	1	1	CCDC88A (5)	0.00051	1.00000	1.273e-1	1.284e-1	
Cayman type cerebellar ataxia	Major depressive disorder	1	1	ATCAY (2)	0.00051	1.00000	1.273e-1	1.284e-1	
chondrodysplasia with joint dislocations, gpapp type	Major depressive disorder	1	1	BPNT2 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Congenital isolated acth deficiency	Major depressive disorder	1	1	TBX19 (4)	0.00051	1.00000	1.273e-1	1.284e-1	
Copper metabolism disorder	Major depressive disorder	1	1	CCS (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Corticosteroid-binding globulin deficiency	Major depressive disorder	1	1	SERPINA6 (6)	0.00051	1.00000	1.273e-1	1.284e-1	
ciliary dyskinesia, primary, 45	Major depressive disorder	1	1	TTC12 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
aniridia 3	Major depressive disorder	1	1	TRIM44 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
band heterotopia of brain	Major depressive disorder	1	1	EML1 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
BBS4-related ciliopathy	Major depressive disorder	1	1	BBS4 (2)	0.00051	1.00000	1.273e-1	1.284e-1	
Ear disorder	Scoliosis	1	0	SCML4 (1)	0.00097	0.50000	1.297e-1	1.308e-1	2
Breast cancer	Keratosis palmoplantaris papulosa	1	1	COL14A1 (2)	0.00094	0.50000	1.337e-1	1.349e-1	
adult neuronal ceroid lipofuscinosis	Breast cancer	1	1	CTSF (2)	0.00094	0.50000	1.337e-1	1.349e-1	
2,4-dienoyl-coa reductase deficiency	Insomnia	1	1	DECR1 (3)	0.00093	0.50000	1.352e-1	1.364e-1	
Carnitine acetyltransferase deficiency	Insomnia	1	1	SLC25A20 (7)	0.00093	0.50000	1.352e-1	1.364e-1	
Attention deficit hyperactivity disorder	Fructokinase deficiency	1	1	CGREF1 (2)	0.00090	0.50000	1.384e-1	1.396e-1	
Anauxetic dysplasia	Desbuquois syndrome	1	1	POP1 (5)	0.00175	0.25000	1.394e-1	1.406e-1	
Coronary artery disease	Ear disorder	1	0	SCML4 (1)	0.00087	0.50000	1.430e-1	1.442e-1	
Coronary artery disease	Ververi-brady syndrome	1	1	QRICH1 (5)	0.00087	0.50000	1.430e-1	1.442e-1	
Hypertension	Trimethylaminuria	1	1	FMO3 (5)	0.00087	0.50000	1.437e-1	1.449e-1	
adult neuronal ceroid lipofuscinosis	Hypertension	1	1	DNAJC5 (2)	0.00087	0.50000	1.437e-1	1.449e-1	
5-oxoprolinase deficiency	Alzheimer disease	1	0	OPLAH (1)	0.00045	1.00000	1.440e-1	1.450e-1	
agammaglobulinemia 4, autosomal recessive	Alzheimer disease	1	1	BLNK (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Cardiofacio-neurodevelopmental syndrome	1	1	CCDC32 (5)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Desanto-shinawi syndrome	1	1	WAC (6)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Desmosterolosis	1	1	DHCR24 (7)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Developmental delay and seizures	1	1	DHDDS (5)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	DHDDS-CDG	1	1	DHDDS (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Dihydropteridine reductase deficiency	1	1	QDPR (5)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Costeff optic atrophy syndrome	1	1	OPA3 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Carbonic anhydrase deficiency	1	1	CA5A (4)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	ciliary dyskinesia, primary, 48, without situs inversus	1	1	NME5 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	ciliary dyskinesia, primary, 49, without situs inversus	1	1	CFAP74 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	ciliary dyskinesia, primary, 53	1	1	CLXN (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome	1	1	HYAL2 (3)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Vacuolar neuromyopathy	1	1	PLIN4 (5)	0.00045	1.00000	1.440e-1	1.450e-1	2
Alzheimer disease	X-linked Opitz G/BBB syndrome	1	1	MID1 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	X-linked opitz syndrome	1	1	MID1 (4)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Ehrlich tumor carcinoma	1	1	CEACAM20 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	FNIP1-associated syndrome	1	1	FNIP1 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Galactose mutarotase deficiency	1	1	GALM (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	galactosemia 4	1	1	GALM (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	glutamate pyruvate transaminase 2 deficiency	1	1	GPT2 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	HAVCR2-related cancer predisposition	1	1	HAVCR2 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	perrault syndrome 3	1	1	CLPP (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	polyglucosan body myopathy 1 with or without immunodeficiency	1	1	RBCK1 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	primary coenzyme Q10 deficiency 8	1	1	COQ6 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	purine nucleoside phosphorylase deficiency	1	1	PNP (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	obsolete Carey-Fineman-Ziter syndrome	1	1	MYMK (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	optic atrophy 3	1	1	OPA3 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Pancreatic insufficiency syndrome	1	1	COX4I2 (4)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Parkinsonism with polyneuropathy	1	1	UQCRC1 (3)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Pash syndrome	1	1	NCSTN (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	intellectual developmental disorder with cardiac defects and dysmorphic facies	1	1	TMEM94 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	leukocyte adhesion deficiency type II	1	1	SLC35C1 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Mak-related retinopathy	1	1	MAK (3)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	male infertility due to globozoospermia	1	1	DPY19L2 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	mitchell syndrome	1	1	ACOX1 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	mosaic variegated aneuploidy syndrome 2	1	1	CEP57 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Muggenthaler-chowdhury-chioza syndrome	1	1	HYAL2 (3)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	nemaline myopathy 10	1	1	LMOD3 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Hyperammonemic encephalopathy	1	1	CA5A (5)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	1	1	CA5A (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	immunodeficiency 65, susceptibility to viral infections	1	1	IRF9 (2)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	inflammatory skin and bowel disease, neonatal, 1	1	1	ADAM17 (3)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Intellectual developmental disorder dysmorphic cardiac	1	1	TMEM94 (4)	0.00045	1.00000	1.440e-1	1.450e-1	
Alzheimer disease	Intellectual developmental disorder dysmorphic ocular	1	1	MTSS2 (4)	0.00045	1.00000	1.440e-1	1.450e-1	
Atrichia with papular lesions	Obesity	1	1	HR (6)	0.00084	0.50000	1.491e-1	1.500e-1	
Bipolar disorder	Birk-aharoni syndrome	1	1	PSMC1 (3)	0.00082	0.50000	1.522e-1	1.531e-1	2
Bile duct disease	Metabolic syndrome	1	1	FECH (3)	0.00077	0.50000	1.621e-1	1.631e-1	
Auroneurodental syndrome	Metabolic syndrome	1	1	HYAL3 (2)	0.00077	0.50000	1.621e-1	1.631e-1	2
aspartylglucosaminuria	Schizophrenia	1	1	AGA (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Asplenia	Schizophrenia	1	1	RPSA (3)	0.00039	1.00000	1.650e-1	1.656e-1	
Dentatorubral pallidoluysian atrophy	Schizophrenia	1	1	ATN1 (6)	0.00039	1.00000	1.650e-1	1.656e-1	
ALG12-congenital disorder of glycosylation	Schizophrenia	1	1	ALG12 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
cardiomyopathy, dilated, 2g	Schizophrenia	1	1	LMOD2 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Catatonia	Schizophrenia	1	1	CHRM4 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Cayman type cerebellar ataxia	Schizophrenia	1	1	ATCAY (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Cednik syndrome	Schizophrenia	1	1	SNAP29 (4)	0.00039	1.00000	1.650e-1	1.656e-1	
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	Schizophrenia	1	1	SNAP29 (3)	0.00039	1.00000	1.650e-1	1.656e-1	
Charcot-Marie-Tooth disease, axonal, type 2FF	Schizophrenia	1	1	CADM3 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Childhood-onset dystonia	Schizophrenia	1	1	MECR (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	Schizophrenia	1	1	MECR (5)	0.00039	1.00000	1.650e-1	1.656e-1	
Birbeck granule deficiency	Schizophrenia	1	1	CD207 (4)	0.00039	1.00000	1.650e-1	1.656e-1	
Brain calcification	Schizophrenia	1	1	FARSB (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Congenital cranial dysinnervation disorder	Schizophrenia	1	1	NEUROG1 (3)	0.00039	1.00000	1.650e-1	1.656e-1	
congenital disorder of glycosylation, type 2v	Schizophrenia	1	1	EDEM3 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	Schizophrenia	1	1	ATN1 (4)	0.00039	1.00000	1.650e-1	1.656e-1	
Congenital intrinsic factor deficiency	Schizophrenia	1	1	CBLIF (3)	0.00039	1.00000	1.650e-1	1.656e-1	
Corneal injury	Schizophrenia	1	1	ALDH3A1 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Hyaluronoglucosaminidase deficiency	Schizophrenia	1	1	HYAL1 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
hydroxyprolinemia	Schizophrenia	1	1	PRODH2 (2)	0.00039	1.00000	1.650e-1	1.656e-1	2
hyperprolinemia type 1	Schizophrenia	1	1	PRODH (4)	0.00039	1.00000	1.650e-1	1.656e-1	
hypotaurinemic retinal degeneration and cardiomyopathy	Schizophrenia	1	1	SLC6A6 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
immunodeficiency 23	Schizophrenia	1	1	PGM3 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
inflammatory bowel disease 28	Schizophrenia	1	1	IL10RA (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Phosphoribosylaminoimidazole carboxylase deficiency	Schizophrenia	1	0	PAICS (1)	0.00039	1.00000	1.650e-1	1.656e-1	2
primary ciliary dyskinesia 18	Schizophrenia	1	1	DNAAF5 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Schizophrenia	1	1	SLC6A17 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Pulmonary agenesis	Schizophrenia	1	1	EFNB2 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
pyridoxal phosphate-responsive seizures	Schizophrenia	1	1	PNPO (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Pyridoxamine 5'-phosphate oxidase deficiency	Schizophrenia	1	1	PNPO (2)	0.00039	1.00000	1.650e-1	1.656e-1	
retinitis pigmentosa 86	Schizophrenia	1	1	KIAA1549 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Early-onset dystonia with spastic paraplegia	Schizophrenia	1	1	ATP5MC3 (5)	0.00039	1.00000	1.650e-1	1.656e-1	
erythrokeratodermia variabilis et progressiva 4	Schizophrenia	1	1	KDSR (2)	0.00039	1.00000	1.650e-1	1.656e-1	
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	Schizophrenia	1	1	SLC38A8 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Schizophrenia	tyrosinemia type I	1	1	FAH (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Schizophrenia	SNRNP200-related dominant retinopathy	1	1	SNRNP200 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Schizophrenia	spinocerebellar ataxia, autosomal recessive 23	1	1	TDP2 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Schizophrenia	spondyloepimetaphyseal dysplasia with joint laxity, type 3	1	1	EXOC6B (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Schizophrenia	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2	1	1	MOCS3 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Schizophrenia	surfactant metabolism dysfunction, pulmonary, 4	1	1	CSF2RA (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Galactose mutarotase deficiency	Schizophrenia	1	0	GALM (1)	0.00039	1.00000	1.650e-1	1.656e-1	
galactosemia 4	Schizophrenia	1	1	GALM (2)	0.00039	1.00000	1.650e-1	1.656e-1	
glyceronephosphate O-acyltransferase deficiency	Schizophrenia	1	1	GNPAT (2)	0.00039	1.00000	1.650e-1	1.656e-1	
glycogen storage disorder due to hepatic glycogen synthase deficiency	Schizophrenia	1	1	GYS2 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Glyoxalase ii deficiency	Schizophrenia	1	0	HAGH (1)	0.00039	1.00000	1.650e-1	1.656e-1	2
Hemorrhagic destruction of the brain subependymal calcification and cataracts	Schizophrenia	1	1	JAM3 (4)	0.00039	1.00000	1.650e-1	1.656e-1	
Hepatic glycogen synthase deficiency	Schizophrenia	1	0	GYS2 (1)	0.00039	1.00000	1.650e-1	1.656e-1	
mucopolysaccharidosis type 9	Schizophrenia	1	1	HYAL1 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
multiple congenital anomalies-hypotonia-seizures syndrome 1	Schizophrenia	1	1	PIGN (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Nasopalpebral lipoma-coloboma syndrome	Schizophrenia	1	1	ZDBF2 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Nonobstructive azoospermia	Schizophrenia	1	1	SLC26A8 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Oculocerebrodental syndrome	Schizophrenia	1	1	PIK3C2A (3)	0.00039	1.00000	1.650e-1	1.656e-1	2
optic atrophy 15	Schizophrenia	1	1	MCAT (2)	0.00039	1.00000	1.650e-1	1.656e-1	
orofaciodigital syndrome type 14	Schizophrenia	1	1	C2CD3 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Pash syndrome	Schizophrenia	1	1	NCSTN (2)	0.00039	1.00000	1.650e-1	1.656e-1	
intellectual disability, autosomal recessive 61	Schizophrenia	1	1	RUSC2 (2)	0.00039	1.00000	1.650e-1	1.656e-1	
Autism	Intellectual developmental disorder speech peripheral neuropathy	1	1	NEMF (5)	0.00068	0.50000	1.810e-1	1.816e-1	
Diabetes mellitus type 2	intellectual disability-strabismus syndrome	1	1	ADAT3 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	lysinuric protein intolerance	1	1	SLC7A7 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Phosphoserine phosphatase deficiency	1	1	PSPH (3)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Primary hypomagnesemia with hypocalciuria	1	1	FXYD2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	progressive encephalopathy with leukodystrophy due to DECR deficiency	1	1	NADK2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	pterin-4 alpha-carbinolamine dehydratase 1 deficiency	1	1	PCBD1 (2)	0.00032	1.00000	2.000e-1	2.002e-1	2
Diabetes mellitus type 2	renal hypomagnesemia 2	1	1	FXYD2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	siddiqi syndrome	1	1	FITM2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	2
Diabetes mellitus type 2	SNUPN-related muscular dystrophy with or without multi-system involvement	1	1	SNUPN (2)	0.00032	1.00000	2.000e-1	2.002e-1	2
Diabetes mellitus type 2	spondyloepimetaphyseal dysplasia with joint laxity, type 3	1	1	EXOC6B (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	syndactyly-telecanthus-anogenital and renal malformations syndrome	1	1	CCNQ (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Thoracic malformation	1	1	FGF4 (3)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Early-onset immune dysregulation due to dock11 complete deficiency	1	1	DOCK11 (3)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Early-onset immune dysregulation with autoimmunity due to dock11 partial deficiency	1	1	DOCK11 (3)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	El-hayek-chahrour neurodevelopmental syndrome	1	1	KDM5A (5)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	fanconi anemia complementation group p	1	1	SLX4 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	hyper-IgE recurrent infection syndrome 3, autosomal recessive	1	1	ZNF341 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	immunodeficiency, common variable, 7	1	1	CR2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	inflammatory skin and bowel disease, neonatal, 1	1	1	ADAM17 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Insulinomatosis and diabetes mellitus	1	1	MAFA (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Intellectual developmental disorder dysmorphic strabismus	1	1	ADAT3 (5)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	VPS11-related neurological disorder	1	1	VPS11 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Warsaw breakage syndrome	1	1	DDX11 (7)	0.00032	1.00000	2.000e-1	2.002e-1	2
Diabetes mellitus type 2	non-severe combined immunodeficiency due to COPG1 deficiency	1	1	COPG1 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Oculocerebrodental syndrome	1	1	PIK3C2A (3)	0.00032	1.00000	2.000e-1	2.002e-1	2
Diabetes mellitus type 2	oculopharyngodistal myopathy 1	1	1	LRP12 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	opsismodysplasia	1	1	INPPL1 (3)	0.00032	1.00000	2.000e-1	2.002e-1	2
Diabetes mellitus type 2	glycogen storage disorder due to hepatic glycogen synthase deficiency	1	1	GYS2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	GNPTG-mucolipidosis	1	1	GNPTG (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	hemochromatosis type 2A	1	1	HJV (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Hepatic glycogen synthase deficiency	1	1	GYS2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Midline facial cleft	1	1	PCSK7 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Nasopalpebral lipoma-coloboma syndrome	1	1	ZDBF2 (3)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	nephronophthisis 20	1	1	MAPKBP1 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	nephronophthisis 7	1	1	GLIS2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Congenital hypopituitarism	Diabetes mellitus type 2	1	0	FOXA2 (1)	0.00032	1.00000	2.000e-1	2.002e-1	
Congenital malabsorptive diarrhea	Diabetes mellitus type 2	1	1	NEUROG3 (4)	0.00032	1.00000	2.000e-1	2.002e-1	
Congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency	Diabetes mellitus type 2	1	1	NEUROG3 (3)	0.00032	1.00000	2.000e-1	2.002e-1	
Congenital malrotation of intestine	Diabetes mellitus type 2	1	1	GALNT14 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Bilateral cleft lip	Diabetes mellitus type 2	1	1	PLEKHA5 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Carboxypeptidase n deficiency	Diabetes mellitus type 2	1	1	CPN1 (4)	0.00032	1.00000	2.000e-1	2.002e-1	
3-methylglutaconic aciduria type 1	Diabetes mellitus type 2	1	1	AUH (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Alopecia-neurological defects-endocrinopathy syndrome	Diabetes mellitus type 2	1	1	RBM28 (3)	0.00032	1.00000	2.000e-1	2.002e-1	2
Anaphylatoxin inactivator deficiency	Diabetes mellitus type 2	1	1	CPN1 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	Diabetes mellitus type 2	1	1	DNAJC3 (4)	0.00032	1.00000	2.000e-1	2.002e-1	
Autoinflammatory disease, multisystem, with immune dysregulation, x-linked	Diabetes mellitus type 2	1	1	DOCK11 (6)	0.00032	1.00000	2.000e-1	2.002e-1	
Autoinflammatory disease, systemic, with vasculitis	Diabetes mellitus type 2	1	1	LYN (4)	0.00032	1.00000	2.000e-1	2.002e-1	
Developmental delay with variable neurological abnormalities	Diabetes mellitus type 2	1	1	LMBRD2 (5)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Dihydropyrimidinase deficiency	1	1	DPYS (5)	0.00032	1.00000	2.000e-1	2.002e-1	
Diabetes mellitus type 2	Dimethylglycine dehydrogenase deficiency	1	1	DMGDH (7)	0.00032	1.00000	2.000e-1	2.002e-1	
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	Diabetes mellitus type 2	1	1	VPS4A (4)	0.00032	1.00000	2.000e-1	2.002e-1	
ciliary dyskinesia, primary, 48, without situs inversus	Diabetes mellitus type 2	1	1	NME5 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
ciliary dyskinesia, primary, 49, without situs inversus	Diabetes mellitus type 2	1	1	CFAP74 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Cimdag syndrome	Diabetes mellitus type 2	1	1	VPS4A (3)	0.00032	1.00000	2.000e-1	2.002e-1	
COG8-congenital disorder of glycosylation	Diabetes mellitus type 2	1	1	COG8 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
combined pituitary hormone deficiencies, genetic form	Diabetes mellitus type 2	1	1	FOXA2 (2)	0.00032	1.00000	2.000e-1	2.002e-1	
congenital anomaly of kidney and urinary tract	Diabetes mellitus type 2	1	1	CHD1L (2)	0.00032	1.00000	2.000e-1	2.002e-1	
Birk-aharoni syndrome	Major depressive disorder	1	1	PSMC1 (3)	0.00051	0.50000	2.384e-1	2.386e-1	2
3m syndrome	Autism	1	1	CUL7 (5)	0.00068	0.33333	2.588e-1	2.591e-1	
Alzheimer disease	Auditory neuropathy with optic atrophy	1	1	GRIN2C (2)	0.00045	0.50000	2.673e-1	2.675e-1	
Alzheimer disease	Carey-fineman-ziter syndrome	1	1	MYMK (5)	0.00045	0.50000	2.673e-1	2.675e-1	
Alzheimer disease	Peroxisomal acyl-coa oxidase deficiency	1	1	ACOX1 (6)	0.00045	0.50000	2.673e-1	2.675e-1	
Alzheimer disease	Primary coenzyme q10 deficiency	1	1	COQ6 (2)	0.00045	0.50000	2.673e-1	2.675e-1	
Alzheimer disease	Ear disorder	1	0	SCML4 (1)	0.00045	0.50000	2.673e-1	2.675e-1	2
Alzheimer disease	Partial hydatidiform mole	1	1	NLRP7 (2)	0.00045	0.50000	2.673e-1	2.675e-1	
Gout	Hydatidiform mole	1	1	TOP6BL (5)	0.00121	0.16667	2.796e-1	2.798e-1	
Atrial fibrillation	Hydatidiform mole	1	1	MEI1 (6)	0.00115	0.16667	2.926e-1	2.927e-1	
Ear disorder	Schizophrenia	1	0	SCML4 (1)	0.00039	0.50000	3.028e-1	3.030e-1	2
Breast cancer	Hydatidiform mole	1	1	TOP6BL (5)	0.00093	0.16667	3.498e-1	3.500e-1	
Diabetes mellitus type 2	Trimethylaminuria	1	1	FMO4 (2)	0.00032	0.50000	3.601e-1	3.601e-1	
Cartilage-hair hypoplasia	Diabetes mellitus type 2	1	1	CCDC107 (2)	0.00032	0.50000	3.601e-1	3.601e-1	
2,4-dienoyl-coa reductase deficiency	Diabetes mellitus type 2	1	1	NADK2 (4)	0.00032	0.50000	3.601e-1	3.601e-1	
Auroneurodental syndrome	Diabetes mellitus type 2	1	1	HYAL3 (2)	0.00032	0.50000	3.601e-1	3.601e-1	2
Autism	Chromosome y microdeletion syndrome	1	1	DDX3Y (2)	0.00068	0.12500	5.502e-1	5.503e-1	
Anauxetic dysplasia	Diabetes mellitus type 2	1	1	CCDC107 (2)	0.00032	0.25000	5.905e-1	5.906e-1	
colon adenocarcinoma	colorectal adenocarcinoma	0	0		0.25000	0.00000	1.000e+0	1.000e+0	
colon adenocarcinoma	cutaneous melanoma	0	0		0.25000	0.00000	1.000e+0	1.000e+0	
colorectal adenocarcinoma	cutaneous melanoma	0	0		0.25000	0.00000	1.000e+0	1.000e+0