LRP2 (LDL receptor related protein 2)

Gene

• Entrez ID: 4036
• Gene name: LDL receptor related protein 2
• Gene symbol: LRP2
• Synonyms (NCBI Gene): DBS, GP330, LRP-2
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycopr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35942532	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338743	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs80338744	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs80338745	A>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs80338747	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80338748	C>T	Pathogenic	Splice donor variant
rs80338749	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338750	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338751	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338752	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs80338753	AACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338754	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs111733491	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs138269726	C>T	Pathogenic	Coding sequence variant, missense variant
rs140272085	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs140918583	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142245618	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144284604	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs144322413	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144451000	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs147058423	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150752263	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202057289	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs587776717	C>T	Pathogenic	Splice acceptor variant
rs746752313	C>T	Pathogenic	Splice donor variant
rs759025536	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs760114690	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs772158739	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs786205122	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520861	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064796497	T>C	Likely-pathogenic	Splice acceptor variant
rs1064796610	C>A	Likely-pathogenic	Splice acceptor variant
rs1358532875	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1553504456	A>-	Pathogenic	Stop gained, coding sequence variant
rs1559043276	A>C	Pathogenic	Stop gained, coding sequence variant
rs1574121486	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1574132879	->C	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048169	hsa-miR-196a-5p	CLASH	23622248
MIRT1117932	hsa-miR-1197	CLIP-seq
MIRT1117933	hsa-miR-1286	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT1117935	hsa-miR-190	CLIP-seq
MIRT1117936	hsa-miR-190b	CLIP-seq
MIRT1117937	hsa-miR-204	CLIP-seq
MIRT1117938	hsa-miR-2054	CLIP-seq
MIRT1117939	hsa-miR-211	CLIP-seq
MIRT1117940	hsa-miR-302a	CLIP-seq
MIRT1117941	hsa-miR-302b	CLIP-seq
MIRT1117942	hsa-miR-302c	CLIP-seq
MIRT1117943	hsa-miR-302d	CLIP-seq
MIRT1117944	hsa-miR-302e	CLIP-seq
MIRT1117945	hsa-miR-372	CLIP-seq
MIRT1117946	hsa-miR-373	CLIP-seq
MIRT1117947	hsa-miR-380	CLIP-seq
MIRT1117948	hsa-miR-4436a	CLIP-seq
MIRT1117949	hsa-miR-4446-5p	CLIP-seq
MIRT1117950	hsa-miR-4722-5p	CLIP-seq
MIRT1117951	hsa-miR-4755-5p	CLIP-seq
MIRT1117952	hsa-miR-4790-3p	CLIP-seq
MIRT1117953	hsa-miR-519a	CLIP-seq
MIRT1117954	hsa-miR-519b-3p	CLIP-seq
MIRT1117955	hsa-miR-519c-3p	CLIP-seq
MIRT1117956	hsa-miR-520a-3p	CLIP-seq
MIRT1117957	hsa-miR-520b	CLIP-seq
MIRT1117958	hsa-miR-520c-3p	CLIP-seq
MIRT1117959	hsa-miR-520d-3p	CLIP-seq
MIRT1117960	hsa-miR-520e	CLIP-seq
MIRT1117961	hsa-miR-623	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq
MIRT1550921	hsa-miR-3614-5p	CLIP-seq
MIRT2263694	hsa-miR-1225-3p	CLIP-seq
MIRT2263695	hsa-miR-1233	CLIP-seq
MIRT2263696	hsa-miR-1238	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT2263697	hsa-miR-130a	CLIP-seq
MIRT2263698	hsa-miR-130b	CLIP-seq
MIRT2263699	hsa-miR-1324	CLIP-seq
MIRT2263700	hsa-miR-148a	CLIP-seq
MIRT2263701	hsa-miR-148b	CLIP-seq
MIRT2263702	hsa-miR-152	CLIP-seq
MIRT1117935	hsa-miR-190	CLIP-seq
MIRT1117936	hsa-miR-190b	CLIP-seq
MIRT2263703	hsa-miR-19a	CLIP-seq
MIRT2263704	hsa-miR-19b	CLIP-seq
MIRT2263705	hsa-miR-214	CLIP-seq
MIRT2263706	hsa-miR-301a	CLIP-seq
MIRT2263707	hsa-miR-301b	CLIP-seq
MIRT2263708	hsa-miR-3167	CLIP-seq
MIRT1550921	hsa-miR-3614-5p	CLIP-seq
MIRT2263709	hsa-miR-3619-5p	CLIP-seq
MIRT2263710	hsa-miR-3664-3p	CLIP-seq
MIRT2263711	hsa-miR-3666	CLIP-seq
MIRT2263712	hsa-miR-3689a-3p	CLIP-seq
MIRT2263713	hsa-miR-3689c	CLIP-seq
MIRT2263714	hsa-miR-376a	CLIP-seq
MIRT2263715	hsa-miR-376b	CLIP-seq
MIRT2263716	hsa-miR-3929	CLIP-seq
MIRT2263717	hsa-miR-4276	CLIP-seq
MIRT2263718	hsa-miR-4289	CLIP-seq
MIRT2263719	hsa-miR-4291	CLIP-seq
MIRT2263720	hsa-miR-4295	CLIP-seq
MIRT2263721	hsa-miR-4419b	CLIP-seq
MIRT2263722	hsa-miR-4433	CLIP-seq
MIRT2263723	hsa-miR-4459	CLIP-seq
MIRT2263724	hsa-miR-4478	CLIP-seq
MIRT2263725	hsa-miR-454	CLIP-seq
MIRT2263726	hsa-miR-4695-5p	CLIP-seq
MIRT2263727	hsa-miR-4724-3p	CLIP-seq
MIRT2263728	hsa-miR-4728-5p	CLIP-seq
MIRT2263729	hsa-miR-4768-3p	CLIP-seq
MIRT2263730	hsa-miR-485-5p	CLIP-seq
MIRT2263731	hsa-miR-510	CLIP-seq
MIRT2263732	hsa-miR-518a-5p	CLIP-seq
MIRT2263733	hsa-miR-527	CLIP-seq
MIRT2263734	hsa-miR-549	CLIP-seq
MIRT2263735	hsa-miR-556-3p	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq
MIRT2263736	hsa-miR-761	CLIP-seq
MIRT2263737	hsa-miR-876-5p	CLIP-seq
MIRT2263738	hsa-miR-922	CLIP-seq
MIRT2563037	hsa-miR-3675-3p	CLIP-seq
MIRT2563038	hsa-miR-4432	CLIP-seq
MIRT2563039	hsa-miR-451b	CLIP-seq
MIRT2563040	hsa-miR-4696	CLIP-seq
MIRT1117934	hsa-miR-1298	CLIP-seq
MIRT1117962	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001822	Process	Kidney development	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003139	Process	Secondary heart field specification	IEA
GO:0003139	Process	Secondary heart field specification	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS
GO:0003281	Process	Ventricular septum development	IEA
GO:0005041	Function	Low-density lipoprotein particle receptor activity	IEA
GO:0005041	Function	Low-density lipoprotein particle receptor activity	TAS
GO:0005509	Function	Calcium ion binding	IDA	23275343
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9773776, 23825075, 28514442, 33961781
GO:0005764	Component	Lysosome	TAS	7768901
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IEA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006629	Process	Lipid metabolic process	TAS	7768901
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	TAS	7768901
GO:0006898	Process	Receptor-mediated endocytosis	IBA
GO:0006898	Process	Receptor-mediated endocytosis	IDA	23825075
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	ISS	9228033
GO:0006898	Process	Receptor-mediated endocytosis	TAS	7768901
GO:0007399	Process	Nervous system development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0010467	Process	Gene expression	IEA
GO:0015031	Process	Protein transport	IDA	17324488
GO:0015031	Process	Protein transport	IEA
GO:0015889	Process	Cobalamin transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	23825075
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017124	Function	SH3 domain binding	IEA
GO:0030001	Process	Metal ion transport	IDA	15126248
GO:0030001	Process	Metal ion transport	IEA
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0030900	Process	Forebrain development	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031904	Component	Endosome lumen	IEA
GO:0031994	Function	Insulin-like growth factor I binding	ISS
GO:0034311	Process	Diol metabolic process	IEA
GO:0035904	Process	Aorta development	IEA
GO:0038024	Function	Cargo receptor activity	EXP	8710919, 14528014
GO:0038024	Function	Cargo receptor activity	TAS
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042562	Function	Hormone binding	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IGI	27241555
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	IEA
GO:0043235	Component	Receptor complex	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	27241555
GO:0044321	Process	Response to leptin	IDA	17324488
GO:0044321	Process	Response to leptin	IEA
GO:0045056	Process	Transcytosis	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	ISS
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	9228033
GO:0051087	Function	Protein-folding chaperone binding	ISS	9228033
GO:0051180	Process	Vitamin transport	IEA
GO:0060068	Process	Vagina development	IEA
GO:0060068	Process	Vagina development	ISS
GO:0060976	Process	Coronary vasculature development	IEA
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0060982	Process	Coronary artery morphogenesis	ISS
GO:0061156	Process	Pulmonary artery morphogenesis	IEA
GO:0061156	Process	Pulmonary artery morphogenesis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070447	Process	Positive regulation of oligodendrocyte progenitor proliferation	IEA
GO:0070447	Process	Positive regulation of oligodendrocyte progenitor proliferation	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	ISS
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0140058	Process	Neuron projection arborization	IEA
GO:0140058	Process	Neuron projection arborization	ISS
GO:0140318	Function	Protein transporter activity	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1904447	Process	Folate import across plasma membrane	IEA
GO:1904447	Process	Folate import across plasma membrane	ISS
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1905167	Process	Positive regulation of lysosomal protein catabolic process	ISS	9228033

Other IDs

• MIM: 600073
• HGNC: 6694
• e!Ensembl: ENSG00000081479

Protein

• UniProt ID: P98164
• Protein name: Low-density lipoprotein receptor-related protein 2 (LRP-2) (Glycoprotein 330) (gp330) (Megalin)
• Protein function: Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B
• PDB: 2M0P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	26 → 62	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	65 → 103	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	106 → 142	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	181 → 217	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	220 → 256	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	264 → 301	Low-density lipoprotein receptor domain class A	Repeat
  PF00058	Ldl_recept_b	479 → 519	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	522 → 566	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	838 → 879	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	1024 → 1060	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1065 → 1101	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1107 → 1143	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1147 → 1183	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1185 → 1222	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1228 → 1266	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1269 → 1305	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	1390 → 1428	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	1521 → 1561	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1566 → 1607	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1883 → 1928	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	2022 → 2058		Domain
  PF00058	Ldl_recept_b	2202 → 2243	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2519 → 2560	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2563 → 2601	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	2698 → 2736	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2739 → 2775	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2778 → 2817	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2820 → 2859	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2862 → 2899	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2904 → 2943	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2946 → 2988	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2991 → 3027	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3030 → 3068	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3073 → 3109	Low-density lipoprotein receptor domain class A	Repeat
  PF12662	cEGF	3132 → 3155	Complement Clr-like EGF-like	Domain
  PF00058	Ldl_recept_b	3282 → 3330	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	3333 → 3374	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	3377 → 3417	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	3510 → 3548	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3551 → 3589	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3592 → 3630	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3633 → 3671	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3676 → 3714	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3717 → 3754	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3757 → 3793	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3796 → 3832	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3840 → 3878	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3881 → 3920	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3926 → 3962	Low-density lipoprotein receptor domain class A	Repeat
  PF07645	EGF_CA	4007 → 4047	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	4154 → 4194	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	4197 → 4238	Low-density lipoprotein receptor repeat class B	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in first and third trimester cytotrophoblasts in the placenta (at protein level) (PubMed:27798286). Absorptive epithelia, including renal proximal tubules. {ECO:0000269|PubMed:27798286}.
• Sequence:

  MDRGPAAVACTLLLALVACLAPASGQECDSAHFRCGSGHCIPADWRCDGTKDCSDDADEI
  GCAVVTCQQGYFKCQSEGQCIPNSWVCDQDQDCDDGSDERQDCSQSTCSSHQITCSNGQC
  IPSEYRCDHVRDCPDGADENDCQYPTCEQLTCDNGACYNTSQKCDWKVDCRDSSDEINCT
  EICLHNEFSCGNGECIPRAYVCDHDNDCQDGSDEHACNYPTCGGYQFTCPSGRCIYQNWV
  CDGEDDCKDNGDEDGCESGPHDVHKCSPREWSCPESGRCISIYKVCDGILDCPGREDENN
  TSTGKYCSMTLCSALNCQYQCHETPYGGACFCPPGYIINHNDSRTCVEFDDCQIWGICDQ
  KCESRPGRHLCHCEEGYILERGQYCKANDSFGEASIIFSNGRDLLIGDIHGRSFRILVES
  QNRGVAVGVAFHYHLQRVFWTDTVQNKVFSVDINGLNIQEVLNVSVETPENLAVDWVNNK
  IYLVETKVNRIDMVNLDGSYRVTLITENLGHPRGIAVDPTVGYLFFSDWESLSGEPKLER
  AFMDGSNRKDLVKTKLGWPAGVTLDMISKRVYWVDSRFDYIETVTYDGIQRKTVVHGGSL
  IPHPFGVSLFEGQVFFTDWTKMAVLKANKFTETNPQVYYQASLRPYGVTVYHSLRQPYAT
  NPCKDNNGGCEQVCVLSHRTDNDGLGFRCKCTFGFQLDTDERHCIAVQNFLIFSSQVAIR
  GIPFTLSTQEDVMVPVSGNPSFFVGIDFDAQDSTIFFSDMSKHMIFKQKIDGTGREILAA
  NRVENVESLAFDWISKNLYWTDSHYKSISVMRLADKTRRTVVQYLNNPRSVVVHPFAGYL
  FFTDWFRPAKIMRAWSDGSHLLPVINTTLGWPNGLAIDWAASRLYWVDAYFDKIEHSTFD
  GLDRRRLGHIEQMTHPFGLAIFGEHLFFTDWRLGAIIRVRKADGGEMTVIRSGIAYILHL
  KSYDVNIQTGSNACNQPTHPNGDCSHFCFPVPNFQRVCGCPYGMRLASNHLTCEGDPTNE
  PPTEQCGLFSFPCKNGRCVPNYYLCDGVDDCHDNSDEQLCGTLNNTCSSSAFTCGHGECI
  PAHWRCDKRNDCVDGSDEHNCPTHAPASCLDTQYTCDNHQCISKNWVCDTDNDCGDGSDE
  KNCNSTETCQPSQFNCPNHRCIDLSFVCDGDKDCVDGSDEVGCVLNCTASQFKCASGDKC
  IGVTNRCDGVFDCSDNSDEAGCPTRPPGMCHSDEFQCQEDGICIPNFWECDGHPDCLYGS
  DEHNACVPKTCPSSYFHCDNGNCIHRAWLCDRDNDCGDMSDEKDCPTQPFRCPSWQWQCL
  GHNICVNLSVVCDGIFDCPNGTDESPLCNGNSCSDFNGGCTHECVQEPFGAKCLCPLGFL
  LANDSKTCEDIDECDILGSCSQHCYNMRGSFRCSCDTGYMLESDGRTCKVTASESLLLLV
  ASQNKIIADSVTSQVHNIYSLVENGSYIVAVDFDSISGRIFWSDATQGKTWSAFQNGTDR
  RVVFDSSIILTETIAIDWVGRNLYWTDYALETIEVSKIDGSHRTVLISKNLTNPRGLALD
  PRMNEHLLFWSDWGHHPRIERASMDGSMRTVIVQDKIFWPCGLTIDYPNRLLYFMDSYLD
  YMDFCDYNGHHRRQVIASDLIIRHPYALTLFEDSVYWTDRATRRVMRANKWHGGNQSVVM
  YNIQWPLGIVAVHPSKQPNSVNPCAFSRCSHLCLLSSQGPHFYSCVCPSGWSLSPDLLNC
  LRDDQPFLITVRQHIIFGISLNPEVKSNDAMVPIAGIQNGLDVEFDDAEQYIYWVENPGE
  IHRVKTDGTNRTVFASISMVGPSMNLALDWISRNLYSTNPRTQSIEVLTLHGDIRYRKTL
  IANDGTALGVGFPIGITVDPARGKLYWSDQGTDSGVPAKIASANMDGTSVKTLFTGNLEH
  LECVTLDIEEQKLYWAVTGRGVIERGNVDGTDRMILVHQLSHPWGIAVHDSFLYYTDEQY
  EVIERVDKATGANKIVLRDNVPNLRGLQVYHRRNAAESSNGCSNNMNACQQICLPVPGGL
  FSCACATGFKLNPDNRSCSPYNSFIVVSMLSAIRGFSLELSDHSETMVPVAGQGRNALHV
  DVDVSSGFIYWCDFSSSVASDNAIRRIKPDGSSLMNIVTHGIGENGVRGIAVDWVAGNLY
  FTNAFVSETLIEVLRINTTYRRVLLKVTVDMPRHIVVDPKNRYLFWADYGQRPKIERSFL
  DCTNRTVLVSEGIVTPRGLAVDRSDGYVYWVDDSLDIIARIRINGENSEVIRYGSRYPTP
  YGITVFENSIIWVDRNLKKIFQASKEPENTEPPTVIRDNINWLRDVTIFDKQVQPRSPAE
  VNNNPCLENNGGCSHLCFALPGLHTPKCDCAFGTLQSDGKNCAISTENFLIFALSNSLRS
  LHLDPENHSPPFQTINVERTVMSLDYDSVSDRIYFTQNLASGVGQISYATLSSGIHTPTV
  IASGIGTADGIAFDWITRRIYYSDYLNQMINSMAEDGSNRTVIARVPKPRAIVLDPCQGY
  LYWADWDTHAKIERATLGGNFRVPIVNSSLVMPSGLTLDYEEDLLYWVDASLQRIERSTL
  TGVDREVIVNAAVHAFGLTLYGQYIYWTDLYTQRIYRANKYDGSGQIAMTTNLLSQPRGI
  NTVVKNQKQQCNNPCEQFNGGCSHICAPGPNGAECQCPHEGNWYLANNRKHCIVDNGERC
  GASSFTCSNGRCISEEWKCDNDNDCGDGSDEMESVCALHTCSPTAFTCANGRCVQYSYRC
  DYYNDCGDGSDEAGCLFRDCNATTEFMCNNRRCIPREFICNGVDNCHDNNTSDEKNCPDR
  TCQSGYTKCHNSNICIPRVYLCDGDNDCGDNSDENPTYCTTHTCSSSEFQCASGRCIPQH
  WYCDQETDCFDASDEPASCGHSERTCLADEFKCDGGRCIPSEWICDGDNDCGDMSDEDKR
  HQCQNQNCSDSEFLCVNDRPPDRRCIPQSWVCDGDVDCTDGYDENQNCTRRTCSENEFTC
  GYGLCIPKIFRCDRHNDCGDYSDERGCLYQTCQQNQFTCQNGRCISKTFVCDEDNDCGDG
  SDELMHLCHTPEPTCPPHEFKCDNGRCIEMMKLCNHLDDCLDNSDEKGCGINECHDPSIS
  GCDHNCTDTLTSFYCSCRPGYKLMSDKRTCVDIDECTEMPFVCSQKCENVIGSYICKCAP
  GYLREPDGKTCRQNSNIEPYLIFSNRYYLRNLTIDGYFYSLILEGLDNVVALDFDRVEKR
  LYWIDTQRQVIERMFLNKTNKETIINHRLPAAESLAVDWVSRKLYWLDARLDGLFVSDLN
  GGHRRMLAQHCVDANNTFCFDNPRGLALHPQYGYLYWADWGHRAYIGRVGMDGTNKSVII
  STKLEWPNGITIDYTNDLLYWADAHLGYIEYSDLEGHHRHTVYDGALPHPFAITIFEDTI
  YWTDWNTRTVEKGNKYDGSNRQTLVNTTHRPFDIHVYHPYRQPIVSNPCGTNNGGCSHLC
  LIKPGGKGFTCECPDDFRTLQLSGSTYCMPMCSSTQFLCANNEKCIPIWWKCDGQKDCSD
  GSDELALCPQRFCRLGQFQCSDGNCTSPQTLCNAHQNCPDGSDEDRLLCENHHCDSNEWQ
  CANKRCIPESWQCDTFNDCEDNSDEDSSHCASRTCRPGQFRCANGRCIPQAWKCDVDNDC
  GDHSDEPIEECMSSAHLCDNFTEFSCKTNYRCIPKWAVCNGVDDCRDNSDEQGCEERTCH
  PVGDFRCKNHHCIPLRWQCDGQNDCGDNSDEENCAPRECTESEFRCVNQQCIPSRWICDH
  YNDCGDNSDERDCEMRTCHPEYFQCTSGHCVHSELKCDGSADCLDASDEADCPTRFPDGA
  YCQATMFECKNHVCIPPYWKCDGDDDCGDGSDEELHLCLDVPCNSPNRFRCDNNRCIYSH
  EVCNGVDDCGDGTDETEEHCRKPTPKPCTEYEYKCGNGHCIPHDNVCDDADDCGDWSDEL
  GCNKGKERTCAENICEQNCTQLNEGGFICSCTAGFETNVFDRTSCLDINECEQFGTCPQH
  CRNTKGSYECVCADGFTSMSDRPGKRCAAEGSSPLLLLPDNVRIRKYNLSSERFSEYLQD
  EEYIQAVDYDWDPKDIGLSVVYYTVRGEGSRFGAIKRAYIPNFESGRNNLVQEVDLKLKY
  VMQPDGIAVDWVGRHIYWSDVKNKRIEVAKLDGRYRKWLISTDLDQPAAIAVNPKLGLMF
  WTDWGKEPKIESAWMNGEDRNILVFEDLGWPTGLSIDYLNNDRIYWSDFKEDVIETIKYD
  GTDRRVIAKEAMNPYSLDIFEDQLYWISKEKGEVWKQNKFGQGKKEKTLVVNPWLTQVRI
  FHQLRYNKSVPNLCKQICSHLCLLRPGGYSCACPQGSSFIEGSTTECDAAIELPINLPPP
  CRCMHGGNCYFDETDLPKCKCPSGYTGKYCEMAFSKGISPGTTAVAVLLTILLIVVIGAL
  AIAGFFHYRRTGSLLPALPKLPSLSSLVKPSENGNGVTFRSGADLNMDIGVSGFGPETAI
  DRSMAMSEDFVMEMGKQPIIFENPMYSARDSAVKVVQPIQVTVSENVDNKNYGSPINPSE
  IVPETNPTSPAADGTQVTKWNLFKRKSKQTTNFENPIYAQMENEQKESVAATPPPSPSLP
  AKPKPPSRRDPTPTYSATEDTFKDTANLVKEDSEV

• Sequence length: 4655

Pathways

KEGG:

Hedgehog signaling pathway
Thyroid hormone synthesis
Cholesterol metabolism

Reactome:

Vitamin D (calciferol) metabolism
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Retinoid metabolism and transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Donnai-Barrow syndrome	Likely pathogenic; Pathogenic	rs1236195196, rs2105329431, rs866520787, rs2105467271, rs2105348670, rs753667280, rs372938477, rs768458485, rs2105326044, rs2528491247, rs80338754, rs760114690, rs2545699853, rs80338747, rs80338751, rs587776717, rs80338749, rs80338748, rs80338752, rs80338745, rs80338744, rs2528617075, rs1687615194, rs1188601783, rs745765868, rs80338753, rs786205122, rs746752313, rs1358532875, rs1559043276, rs752197557, rs1685554004	RCV001542647 RCV001542648 RCV004555887 RCV001849819 RCV001849820 RCV001849821 RCV002503452 RCV005025532 RCV002052164 RCV002302517 RCV000192936 RCV000490345 RCV003147074 RCV000010058 RCV000010059 RCV000010060 RCV000010061 RCV000010062 RCV000010063 RCV000010064 RCV000010065 RCV005030071 RCV005030110 RCV005014852 RCV005030302 RCV000020603 RCV000020604 RCV000033107 RCV000677416 RCV000767862 RCV000767863 RCV001269295 RCV001290362	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs2545755689, rs2545794648	RCV002291529 RCV002291530	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LRP2-related disorder	Likely pathogenic; Pathogenic	rs753549113, rs768458485, rs1310470715	RCV003408014 RCV003408018 RCV004750949	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs867941074	RCV005934704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic	rs111733491	RCV000504761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs745765868	RCV005935017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DSD incomplete virilization	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASES, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss and Retinal dystrophy	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC BONE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic syndactyly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolactin-producing pituitary gland adenoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN D DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31641537		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	29286200		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	29309806		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	28497274, 28577559		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	12475886		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23992033		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24366390, 25024348, 27241555	Associate	★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	28320164		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30567480, 31707037		★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	18364044	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30567480, 31707037		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22578327	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22578327		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22578327	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11145721		★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	BEFREE	25409685		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	37341068	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	BEFREE	31581800		★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	BEFREE	31078682		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	10052453, 12475886		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22369881		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18567755	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31120873	Inhibit	★☆☆☆☆ Found in Text Mining only
Camptocormia	Camptocormia	BEFREE	28157107		★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	29285760		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24462510, 36965814	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29088295	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	27289260		★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	17632512		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	17632512		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	21720686, 31120873		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	31120873	Inhibit	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	30718219		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	BEFREE	30586351		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28331063, 29590662, 29779033, 30778159, 31740596		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22170372	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31434255		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31434255, 35975176	Associate	★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	23992033		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28903415		★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	LHGDN	17979745		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18768505		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28903415		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	31548351		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	Pubtator	34643468	Associate	★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	10514418		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	30267364		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	22170372	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28582689, 28676842, 28991666, 29129763		★☆☆☆☆ Found in Text Mining only
Dent Disease	Dent disease	Pubtator	23572577, 29532936	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29538685, 29845013, 30414974		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	17632512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	27197912, 29187367, 29794060		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37654560	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19366958	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26465605, 27197912, 29187367, 29794060		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19366958	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25502002	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27197912, 28289043, 29949391		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	36330072	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25502002	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31120873	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21720686, 28289043, 29187367, 31120873		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23562823	Associate	★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	30586351		★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	28827010		★☆☆☆☆ Found in Text Mining only
Disturbance in mood	Mood Disorder	BEFREE	29538685		★☆☆☆☆ Found in Text Mining only
Donnai-Barrow syndrome	Donnai-Barrow Syndrome	CLINVAR_DG	12923867, 17632512		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Donnai-Barrow syndrome	Donnai-Barrow Syndrome	BEFREE	17632512, 18553518, 23992033, 24980834, 25682901, 29388841		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Donnai-Barrow syndrome	Donnai-Barrow Syndrome	GENOMICS_ENGLAND_DG	17632512, 18553518, 23033978		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Donnai-Barrow syndrome	Donnai-Barrow Syndrome	UNIPROT_DG	17632512		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Donnai-Barrow syndrome	Donnai-Barrow Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Donnai-Barrow syndrome	Donnai-Barrow Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Down Syndrome	Down Syndrome	BEFREE	31234775		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	31571270		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	12869808, 27061943, 28913772, 29433807, 29444973, 29538685, 31494731, 31571277		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	24366390		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	24366390	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	15852393, 19890997, 20083014, 24178706, 26725140, 27289260, 27707656, 27743838, 27862284, 28195407, 28690015, 28964627, 28972096, 29246604, 29576500, 30153389, 30464181, 30623266, 30633810, 30718219, 31078682, 31207566, 31216378		★☆☆☆☆ Found in Text Mining only
Dystonia, Primary	Dystonia	BEFREE	29137852		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29129763, 29306976, 30268433, 30500485, 31794952, 31834012		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28124434, 28163141, 28370272, 28597557, 29196249, 29391468, 29797064, 29975951, 30045955, 30827864, 30875687, 31680866		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases, Hereditary	Eye Diseases	CTD_human_DG	17632512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fabry Disease	Fabry disease	BEFREE	23756194		★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	BEFREE	19890997		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10514418		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	31990679	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	10514418, 31548351		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	28577559	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31120873		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	29295486, 30042071, 30611137, 31114210, 31370042, 31647199		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	25502002, 35661648	Associate	★☆☆☆☆ Found in Text Mining only
Glut1 Deficiency Syndrome	GLUT1 Deficiency Syndrome	BEFREE	29899725		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	30147856	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	26147675	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	32571490	Associate	★☆☆☆☆ Found in Text Mining only
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	15852393, 28055131, 31463603		★☆☆☆☆ Found in Text Mining only
Hemiballismus	Hemiballismus	BEFREE	31541757		★☆☆☆☆ Found in Text Mining only
Heymann Nephritis	Heymann Nephritis	BEFREE	10448520, 10886254, 17726340, 2786251, 7579068, 7937880, 9727372		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	11228189, 20066439		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29725840, 30325816		★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	29532936	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	18174661	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29304720		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	9606285		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25189868, 29795187	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29795187		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothalamic hamartomas	Hypothalamic Hamartomas	BEFREE	30970205		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30355654		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19193835		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24254699, 29538685		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23033978		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	26529358		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Calculi	Kidney stone	BEFREE	29532936		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	17632512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	27197912, 30355654, 30876746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	32571490	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	24197071, 29286200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	29286200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	23756194		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29124443		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	17457342, 17846082		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	31120873	Inhibit	★☆☆☆☆ Found in Text Mining only
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis	Proteinuria	Pubtator	29532936	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33219256	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	31581800		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	23707265		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22369881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23826131, 25799011		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18559602, 31120873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	22919386		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18559602, 31120873		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25585665		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25585665		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	15800120, 2786251, 9727372		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29538685, 29845013, 30414974		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27981031, 30621216		★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	CTD_human_DG	10052453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	25646961, 29795187	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25646961, 28143489		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28582689		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	29887826		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	28320164, 29725840, 30268433, 30633810, 31077436		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	18448595	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	28739605		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29303040		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	34678704	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	30302819		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30936291		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	15052463, 29532936		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	29532936		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	29532936	Associate	★☆☆☆☆ Found in Text Mining only
Nephropathic cystinosis	Nephropathic Cystinosis	BEFREE	31548351		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	22170372	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31352823		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29266596, 29797064, 30894331		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	27883261, 29728895		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	25585665		★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	26831335		★☆☆☆☆ Found in Text Mining only
Non-acidotic proximal tubulopathy	Non-acidotic proximal tubulopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28143489		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32153512	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	29860948, 30670359, 31313803, 31383848		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28161531		★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	12475886		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CTD_human_DG	10052453		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33432021	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23826131, 25799011		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23826131, 25799011	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10937874, 9854589		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20177695, 22713408, 27771287, 27982769, 28262813, 28320164, 28434004, 28597557, 28638714, 28669542, 28676842, 28761773, 28827010, 29031219, 29032347, 29105245, 29164724, 29249683, 29356826, 29384860, 29532240, 29538685, 29548954, 29614696, 29797064, 29936120, 29971141, 30262859, 30337863, 30500485, 30616868, 30681186, 30696912, 30839077, 30875687, 30890329, 30898672, 31216311, 31350641, 31383848, 31604332, 31621623, 31621625, 31665685, 31687126, 31849760, 31852004		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34528139	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	27818350, 28590521, 28913772, 29164724, 29249683, 29532240, 30357911, 30616868, 31466414, 31755599, 31758821		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23938256, 30153389, 30853908, 31078682		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	29687770	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29687770		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28582689, 28676842, 28991666, 29129763		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18559602		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18559602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18559602	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	22919386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Proteinuria	Pubtator	23302718, 25822460, 29532936, 30476138	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18768505		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	18769366		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29887129		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	37563071	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12723989		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	12475886		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21482453, 29242310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	25376789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	28712731, 30082148		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CTD_human_DG	17632512		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23992033		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	CTD_human_DG	17632512		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	24980834, 30665232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28577559	Associate	★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	34995387	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	34995387	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	38008818	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30616868, 30975618		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	23992033		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	23992033		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31164161, 36430456	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	34872573	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	14657389		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	31581800		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37247272	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	33084977	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	26248135		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	10052453, 12475886, 29153269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin D Deficiency	CTD_human_DG	10052453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	35684156	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations