# GeDiPNet Shared-Gene Disease Pairs -- generated 2026-10-07 13:40:03 # 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 17:17:47. Disease A Disease B Shared Genes Corroborated Shared Genes Shared Gene Names Similarity Score Overlap Coefficient P-value FDR Q-value Shared Cluster 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 Anauxetic dysplasia Diabetes mellitus type 2 1 1 CCDC107 (2) 0.00032 0.25000 5.905e-1 5.906e-1 Autism Chromosome y microdeletion syndrome 1 1 DDX3Y (2) 0.00068 0.12500 5.502e-1 5.503e-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 Cartilage-hair hypoplasia Diabetes mellitus type 2 1 1 CCDC107 (2) 0.00032 0.50000 3.601e-1 3.601e-1 Diabetes mellitus type 2 Trimethylaminuria 1 1 FMO4 (2) 0.00032 0.50000 3.601e-1 3.601e-1 Diabetes mellitus type 2 Intellectual developmental disorder speech peripheral neuropathy 1 1 NEMF (5) 0.00032 0.50000 3.601e-1 3.601e-1 Breast cancer Hydatidiform mole 1 1 TOP6BL (5) 0.00093 0.16667 3.498e-1 3.500e-1 Ear disorder Schizophrenia 1 0 SCML4 (1) 0.00039 0.50000 3.028e-1 3.030e-1 2 Atrial fibrillation Hydatidiform mole 1 1 MEI1 (6) 0.00115 0.16667 2.926e-1 2.927e-1 Gout Hydatidiform mole 1 1 TOP6BL (5) 0.00121 0.16667 2.796e-1 2.798e-1 Alzheimer disease Partial hydatidiform mole 1 1 NLRP7 (2) 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 Carey-fineman-ziter syndrome 1 1 MYMK (6) 0.00045 0.50000 2.673e-1 2.675e-1 Alzheimer disease Auditory neuropathy with optic atrophy 1 1 GRIN2C (2) 0.00045 0.50000 2.673e-1 2.675e-1 3m syndrome Autism 1 1 CUL7 (5) 0.00068 0.33333 2.588e-1 2.591e-1 Birk-aharoni syndrome Major depressive disorder 1 1 PSMC1 (3) 0.00051 0.50000 2.384e-1 2.386e-1 2 Carboxypeptidase n deficiency Diabetes mellitus type 2 1 1 CPN1 (4) 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 Bilateral cleft lip Diabetes mellitus type 2 1 1 PLEKHA5 (2) 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 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 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 Adenosine deaminase 2 deficiency Diabetes mellitus type 2 1 1 ADA2 (3) 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 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 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 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 Thoracic malformation 1 1 FGF4 (3) 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 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 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 opsismodysplasia 1 1 INPPL1 (3) 0.00032 1.00000 2.000e-1 2.002e-1 2 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 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 lysinuric protein intolerance 1 1 SLC7A7 (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 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 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 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 Autism Intellectual developmental disorder speech peripheral neuropathy 1 1 NEMF (5) 0.00068 0.50000 1.810e-1 1.817e-1 Autism Carnitine acetyltransferase deficiency 1 1 SLC25A20 (6) 0.00068 0.50000 1.810e-1 1.817e-1 Intellectual disability with strabismus syndrome Neurodevelopmental disorder 1 1 ADAT3 (3) 0.00106 0.33333 1.719e-1 1.725e-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 intellectual disability, autosomal recessive 61 Schizophrenia 1 1 RUSC2 (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 Galactose mutarotase deficiency Schizophrenia 1 0 GALM (1) 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 Pash syndrome Schizophrenia 1 1 NCSTN (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 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 retinitis pigmentosa 86 Schizophrenia 1 1 KIAA1549 (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 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 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 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 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 cardiomyopathy, dilated, 2g Schizophrenia 1 1 LMOD2 (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 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 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 ALG12-congenital disorder of glycosylation Schizophrenia 1 1 ALG12 (2) 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 Dentatorubral pallidoluysian atrophy Schizophrenia 1 1 ATN1 (6) 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 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 Bipolar disorder Birk-aharoni syndrome 1 1 PSMC1 (3) 0.00082 0.50000 1.522e-1 1.532e-1 2 Intellectual developmental disorder Thiamine-responsive maple syrup urine disease 1 1 BCKDHA (2) 0.00123 0.33333 1.495e-1 1.505e-1 Atrichia with papular lesions Obesity 1 1 HR (6) 0.00084 0.50000 1.491e-1 1.500e-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 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 Ehrlich tumor carcinoma 1 1 CEACAM20 (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 Cardiofacio-neurodevelopmental syndrome 1 1 CCDC32 (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 5-oxoprolinase deficiency Alzheimer disease 1 0 OPLAH (1) 0.00045 1.00000 1.440e-1 1.450e-1 Acyl-coa binding domain containing protein 5 deficiency Alzheimer disease 1 1 ACBD5 (3) 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 Vacuolar neuromyopathy 1 1 PLIN4 (5) 0.00045 1.00000 1.440e-1 1.450e-1 2 Alzheimer disease X-linked opitz syndrome 1 1 MID1 (4) 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 Hyperammonemic encephalopathy 1 1 CA5A (5) 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 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 purine nucleoside phosphorylase deficiency 1 1 PNP (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 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 glutamate pyruvate transaminase 2 deficiency 1 1 GPT2 (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 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 optic atrophy 3 1 1 OPA3 (2) 0.00045 1.00000 1.440e-1 1.450e-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 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 Anauxetic dysplasia Desbuquois syndrome 1 1 POP1 (5) 0.00175 0.25000 1.394e-1 1.406e-1 Attention deficit hyperactivity disorder Fructokinase deficiency 1 1 CGREF1 (2) 0.00090 0.50000 1.384e-1 1.396e-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 adult neuronal ceroid lipofuscinosis Breast cancer 1 1 CTSF (2) 0.00094 0.50000 1.337e-1 1.349e-1 Breast cancer Keratosis palmoplantaris papulosa 1 1 COL14A1 (2) 0.00094 0.50000 1.337e-1 1.349e-1 Ear disorder Scoliosis 1 0 SCML4 (1) 0.00097 0.50000 1.297e-1 1.308e-1 2 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 ciliary dyskinesia, primary, 45 Major depressive disorder 1 1 TTC12 (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 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 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 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 hereditary leiomyomatosis and renal cell cancer Major depressive disorder 1 1 FH (2) 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 Major depressive disorder Zinc deficiency 1 1 SLC30A2 (4) 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 Major depressive disorder primary ciliary dyskinesia 9 1 1 DNAI2 (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 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 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 Color vision deficiency White spongue nevus 1 1 KRT13 (5) 0.00103 0.50000 1.215e-1 1.228e-1 Nephronophthisis-like nephropathy Prostate cancer 1 1 SLC41A1 (4) 0.00104 0.50000 1.211e-1 1.223e-1 Neurodevelopmental disorder Ververi-brady syndrome 1 1 SEPHS1 (3) 0.00106 0.50000 1.181e-1 1.193e-1 Central nervous system malformation Neurodevelopmental disorder 1 1 LMNB2 (2) 0.00106 0.50000 1.181e-1 1.193e-1 adult neuronal ceroid lipofuscinosis Neurodevelopmental disorder 1 1 CTSF (2) 0.00106 0.50000 1.181e-1 1.193e-1 1p36.33 duplication syndrome Prostatic neoplasms 1 1 ATAD3A (3) 0.00159 0.33333 1.173e-1 1.185e-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 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 Atelis syndrome Squamous cell carcinoma 1 1 SLF2 (4) 0.00126 0.50000 9.986e-2 1.009e-1 Argininosuccinic aciduria Autism 1 1 ASL (7) 0.00068 1.00000 9.501e-2 9.603e-2 Arthrogryposis with neurodevelopmental impairment and seizures Autism 1 1 SLC35A3 (6) 0.00068 1.00000 9.501e-2 9.603e-2 aspartylglucosaminuria Autism 1 1 AGA (2) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Autism-epilepsy syndrome 1 1 BCKDK (2) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Corneal injury 1 1 ALDH3A1 (2) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Deafness, y-linked 1 1 TBL1Y (4) 0.00068 1.00000 9.501e-2 9.603e-2 2 Autism Desmosterolosis 1 1 DHCR24 (7) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Developmental delay due to metabolic enzyme deficiency 1 1 ALDH6A1 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Cohen-gibson syndrome 1 1 EED (6) 0.00068 1.00000 9.501e-2 9.603e-2 Autism congenital disorder of glycosylation, type Iw, autosomal dominant 1 1 STT3A (2) 0.00068 1.00000 9.501e-2 9.603e-2 2-methylbutyryl-coa dehydrogenase deficiency Autism 1 1 ACADSB (5) 0.00068 1.00000 9.501e-2 9.603e-2 Adenylosuccinate lyase deficiency Autism 1 1 ADSL (4) 0.00068 1.00000 9.501e-2 9.603e-2 Al kaissi syndrome Autism 1 0 CDK10 (1) 0.00068 1.00000 9.501e-2 9.603e-2 Aminoaciduria Autism 1 0 CLTRN (1) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Cerebral arterial disease 1 0 ADGRE3 (1) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Bosch-boonstra-schaaf optic atrophy syndrome 1 1 NR2F1 (6) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Brainstem dysplasia 1 0 SMG9 (1) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Branched-chain keto acid dehydrogenase kinase deficiency 1 1 BCKDK (5) 0.00068 1.00000 9.501e-2 9.603e-2 Autism t-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 1 FOXN1 (2) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Thiopurine s-methyltransferase deficiency 1 1 TPMT (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism X-linked epilepsy with or without intellectual disability and dysmorphic features 1 1 GABRA3 (5) 0.00068 1.00000 9.501e-2 9.603e-2 Autism X-linked hereditary motor and sensory neuropathy 1 0 DRP2 (1) 0.00068 1.00000 9.501e-2 9.603e-2 Autism gaze palsy, familial horizontal, with progressive scoliosis 1 1 1 ROBO3 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism hypotonia, infantile, with psychomotor retardation and characteristic facies 2 1 1 UNC80 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Intellectual developmental disorder behavioral short stature 1 1 PUS7 (4) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Intellectual developmental disorder growth seizures 1 1 ABCA2 (4) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Hemorrhagic destruction of the brain subependymal calcification and cataracts 1 1 JAM3 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism retinitis pigmentosa 18 1 1 PRPF3 (2) 0.00068 1.00000 9.501e-2 9.603e-2 2 Autism spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 1 SLC1A4 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism STT3A-congenital disorder of glycosylation 1 1 STT3A (2) 0.00068 1.00000 9.501e-2 9.603e-2 Autism SYNCRIP-related neurodevelopmental disorder 1 1 SYNCRIP (2) 0.00068 1.00000 9.501e-2 9.603e-2 Autism Paraparesis 1 1 TECPR2 (2) 0.00068 1.00000 9.501e-2 9.603e-2 Autism primary ciliary dyskinesia 10 1 1 DNAAF2 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism primary ciliary dyskinesia 11 1 1 RSPH4A (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism primary ciliary dyskinesia 13 1 1 DNAAF1 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism primary ciliary dyskinesia 14 1 1 CCDC39 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism primary ciliary dyskinesia 20 1 1 ODAD1 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism primary ciliary dyskinesia 9 1 1 DNAI2 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism macular corneal dystrophy 1 1 CHST6 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism megalencephalic leukoencephalopathy with subcortical cysts 2a 1 1 HEPACAM (2) 0.00068 1.00000 9.501e-2 9.603e-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 9.603e-2 Autism methylmalonate semialdehyde dehydrogenase deficiency 1 1 ALDH6A1 (3) 0.00068 1.00000 9.501e-2 9.603e-2 Autism mucopolysaccharidosis type 4A 1 1 GALNS (3) 0.00068 1.00000 9.501e-2 9.603e-2 Degenerative polyarthritis Osteoarthritis 1 1 FRZB (3) 0.00137 0.50000 9.257e-2 9.376e-2 Crohn disease Progressive arterial occlusive disease with hypertension 1 1 DAP3 (2) 0.00145 0.50000 8.762e-2 8.875e-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 Metabolic syndrome Midline facial cleft 1 1 PCSK7 (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 SF3B4-related acrofacial dysostosis 1 1 SF3B4 (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 autosomal recessive osteopetrosis 8 Metabolic syndrome 1 1 SNX10 (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 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 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 Systemic lupus erythematosus Thiamine metabolism dysfunction syndrome 1 1 SLC25A19 (3) 0.00152 0.50000 8.314e-2 8.429e-2 Hepatocellular carcinoma Peroxisomal acyl-coa oxidase deficiency 1 1 ACOX1 (5) 0.00154 0.50000 8.252e-2 8.367e-2 Congenital chronic diarrhea with protein-losing enteropathy Hepatocellular carcinoma 1 1 PLVAP (3) 0.00154 0.50000 8.252e-2 8.367e-2 Atelis syndrome Lung cancer 1 1 SLF2 (4) 0.00154 0.50000 8.252e-2 8.367e-2 Acral peeling skin syndrome Lung cancer 1 1 TGM5 (2) 0.00154 0.50000 8.252e-2 8.367e-2 Kidney disease multiple acyl-CoA dehydrogenase deficiency 1 1 ETFB (2) 0.00234 0.33333 8.054e-2 8.168e-2 Bipolar disorder leukodystrophy, hypomyelinating, 22 1 1 CLDN11 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Maleylacetoacetate isomerase deficiency 1 1 GSTZ1 (5) 0.00082 1.00000 7.923e-2 8.035e-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 8.035e-2 Bipolar disorder Oculocerebrodental syndrome 1 1 PIK3C2A (3) 0.00082 1.00000 7.923e-2 8.035e-2 2 Bipolar disorder hypotaurinemic retinal degeneration and cardiomyopathy 1 1 SLC6A6 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder inherited interstitial lung disease 1 1 LAMP3 (2) 0.00082 1.00000 7.923e-2 8.035e-2 2 Bipolar disorder Intellectual developmental disorder behavioral short stature 1 1 PUS7 (4) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Intellectual developmental disorder short stature facial 1 1 FBXL3 (3) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Intellectual developmental disorder short stature facial speech 1 1 FBXL3 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder retinitis pigmentosa 18 1 1 PRPF3 (2) 0.00082 1.00000 7.923e-2 8.035e-2 2 Bipolar disorder STT3A-congenital disorder of glycosylation 1 1 STT3A (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 1 1 MOCS3 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder syndromic X-linked intellectual disability Siderius type 1 1 PHF8 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder holocarboxylase synthetase deficiency 1 1 HLCS (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Hypertryptophanemia 1 1 TDO2 (6) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder glycogen storage disease III 1 1 AGL (2) 0.00082 1.00000 7.923e-2 8.035e-2 21q22.11q22.12 microdeletion syndrome Bipolar disorder 1 1 KIF15 (3) 0.00082 1.00000 7.923e-2 8.035e-2 Al kaissi syndrome Bipolar disorder 1 0 CDK10 (1) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder combined immunodeficiency due to STK4 deficiency 1 1 STK4 (4) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder congenital disorder of glycosylation, type Iw, autosomal dominant 1 1 STT3A (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Congenital intrinsic factor deficiency 1 1 CBLIF (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Blepharospasm 1 1 DRD5 (3) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Braddock-carey syndrome 1 1 KIF15 (4) 0.00082 1.00000 7.923e-2 8.035e-2 autosomal dominant cerebellar ataxia Bipolar disorder 1 1 NPTX1 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Benign essential blepharospasm Bipolar disorder 1 1 DRD5 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder dyskeratosis congenita and related telomere biology disorder 1 1 RPA1 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Cayman type cerebellar ataxia 1 1 ATCAY (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Cerebral arterial disease 1 0 ADGRE3 (1) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Cerebrofacial arteriovenous metameric syndrome 1 1 GNA14 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Bipolar disorder Charcot-Marie-Tooth disease, axonal, type 2FF 1 1 CADM3 (2) 0.00082 1.00000 7.923e-2 8.035e-2 Progressive arterial occlusive disease with hypertension Ulcerative colitis 1 1 DAP3 (2) 0.00163 0.50000 7.779e-2 7.900e-2 Obesity Pancreatic beta-cell agenesis with neonatal diabetes mellitus 1 1 PTF1A (2) 0.00084 1.00000 7.754e-2 7.875e-2 Obesity PLIN1-related familial partial lipodystrophy 1 1 PLIN1 (3) 0.00084 1.00000 7.754e-2 7.875e-2 immunodeficiency 72 with autoinflammation Obesity 1 1 NCKAP1L (2) 0.00084 1.00000 7.754e-2 7.875e-2 inflammatory bowel disease 28 Obesity 1 1 IL10RA (2) 0.00084 1.00000 7.754e-2 7.875e-2 Isobutyryl-coa dehydrogenase deficiency Obesity 1 1 ACAD8 (3) 0.00084 1.00000 7.754e-2 7.875e-2 Obesity White blood cell count quantitative trait locus 1 1 ACKR1 (2) 0.00084 1.00000 7.754e-2 7.875e-2 medium chain acyl-coa dehydrogenase deficiency Obesity 1 1 ACADM (3) 0.00084 1.00000 7.754e-2 7.875e-2 methylmalonate semialdehyde dehydrogenase deficiency Obesity 1 1 ALDH6A1 (3) 0.00084 1.00000 7.754e-2 7.875e-2 mitochondrial short-chain enoyl-coa hydratase 1 deficiency Obesity 1 1 ECHS1 (3) 0.00084 1.00000 7.754e-2 7.875e-2 NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability Obesity 1 1 NACC1 (2) 0.00084 1.00000 7.754e-2 7.875e-2 Nasopalpebral lipoma-coloboma syndrome Obesity 1 1 ZDBF2 (3) 0.00084 1.00000 7.754e-2 7.875e-2 Obesity opsismodysplasia 1 1 INPPL1 (2) 0.00084 1.00000 7.754e-2 7.875e-2 2 Essential pentosuria Obesity 1 1 DCXR (3) 0.00084 1.00000 7.754e-2 7.875e-2 hawkinsinuria Obesity 1 1 HPD (2) 0.00084 1.00000 7.754e-2 7.875e-2 Hyperinflammatory lymphoproliferative immunodeficiency Obesity 1 1 NCKAP1L (2) 0.00084 1.00000 7.754e-2 7.875e-2 Obesity Spasticity with hyperglycinemia 1 1 GLRX5 (3) 0.00084 1.00000 7.754e-2 7.875e-2 Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Obesity 1 1 ACP5 (2) 0.00084 1.00000 7.754e-2 7.875e-2 congenital disorder of glycosylation with defective fucosylation 2 Obesity 1 1 FCSK (2) 0.00084 1.00000 7.754e-2 7.875e-2 congenital disorder of glycosylation, type 2v Obesity 1 1 EDEM3 (2) 0.00084 1.00000 7.754e-2 7.875e-2 Dalmatian hypouricemia Obesity 1 1 SLC22A12 (2) 0.00084 1.00000 7.754e-2 7.875e-2 Alopecia universalis Obesity 1 0 HR (1) 0.00084 1.00000 7.754e-2 7.875e-2 Developmental delay due to metabolic enzyme deficiency Obesity 1 1 ALDH6A1 (3) 0.00084 1.00000 7.754e-2 7.875e-2 BBS4-related ciliopathy Obesity 1 1 BBS4 (2) 0.00084 1.00000 7.754e-2 7.875e-2 Androgenetic alopecia Thiamine-responsive maple syrup urine disease 1 1 BCKDHA (2) 0.00243 0.33333 7.741e-2 7.871e-2 Acral peeling skin syndrome Glioblastoma 1 1 CSTA (2) 0.00164 0.50000 7.729e-2 7.859e-2 Birk-aharoni syndrome Dementia 1 1 PSMC1 (3) 0.00169 0.50000 7.517e-2 7.644e-2 2 Congenital arthrogryposis with anterior horn cell disease Hypertension 1 1 GLE1 (3) 0.00087 1.00000 7.462e-2 7.588e-2 Arthrogryposis with anterior horn cell disease Hypertension 1 1 GLE1 (2) 0.00087 1.00000 7.462e-2 7.588e-2 Autoinflammatory disease, systemic, with vasculitis Hypertension 1 1 LYN (4) 0.00087 1.00000 7.462e-2 7.588e-2 Hypertension Wernicke encephalopathy 1 1 TKT (3) 0.00087 1.00000 7.462e-2 7.588e-2 Hypertension renal hypomagnesemia 2 1 1 FXYD2 (3) 0.00087 1.00000 7.462e-2 7.588e-2 Hypertension immunodeficiency-centromeric instability-facial anomalies syndrome 4 1 1 HELLS (2) 0.00087 1.00000 7.462e-2 7.588e-2 Hypertension Primary hypomagnesemia with hypocalciuria 1 1 FXYD2 (3) 0.00087 1.00000 7.462e-2 7.588e-2 Hypertension LIPE-related familial partial lipodystrophy 1 1 LIPE (2) 0.00087 1.00000 7.462e-2 7.588e-2 Hypertension MPI-congenital disorder of glycosylation 1 1 MPI (2) 0.00087 1.00000 7.462e-2 7.588e-2 Hypertension opsismodysplasia 1 1 INPPL1 (3) 0.00087 1.00000 7.462e-2 7.588e-2 fanconi anemia complementation group l Hypertension 1 1 FANCL (2) 0.00087 1.00000 7.462e-2 7.588e-2 Coronary artery disease Genetic transient congenital hypothyroidism 1 1 DUOX2 (3) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease polycystic liver disease 2 1 1 SEC63 (2) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease Thrombocytopenia with anemia and myelofibrosis 1 1 MPIG6B (6) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease TMEM165-congenital disorder of glycosylation 1 1 TMEM165 (2) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease tooth agenesis, selective, 9 1 1 GREM2 (2) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease VPS11-related neurological disorder 1 1 VPS11 (2) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease immunodeficiency 126, susceptibility to 1 1 PTCRA (2) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease Intellectual developmental disorder growth metabolic 1 1 DIP2B (3) 0.00087 1.00000 7.423e-2 7.553e-2 34 Coronary artery disease Oculocerebrofacial syndrome 1 1 UBE3B (4) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease hemochromatosis type 2A 1 1 HJV (2) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease macular corneal dystrophy 1 1 CHST6 (2) 0.00087 1.00000 7.423e-2 7.553e-2 band heterotopia of brain Coronary artery disease 1 1 EML1 (2) 0.00087 1.00000 7.423e-2 7.553e-2 34 Barth syndrome Coronary artery disease 1 1 TAFAZZIN (6) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease Cytosolic acetoacetyl-coa thiolase deficiency 1 1 ACAT2 (2) 0.00087 1.00000 7.423e-2 7.553e-2 Coronary artery disease ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 1 1 KDF1 (2) 0.00087 1.00000 7.423e-2 7.553e-2 Myocardial infarction Periventricular leukomalacia 1 1 PLEKHG1 (2) 0.00172 0.50000 7.392e-2 7.526e-2 Burn-mckeown syndrome Desbuquois syndrome 1 1 POLR1A (3) 0.00176 0.50000 7.229e-2 7.361e-2 Attention deficit hyperactivity disorder Blepharospasm 1 1 DRD5 (3) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder cardiomyopathy, dilated, 2j 1 1 FLII (2) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome 1 1 QARS1 (4) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Cerebral arterial disease 1 0 ADGRE3 (1) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Benign essential blepharospasm 1 1 DRD5 (2) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Bilateral cleft lip 1 1 PLEKHA5 (2) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Delayed sleep phase syndrome 1 1 CRY1 (2) 0.00090 1.00000 7.176e-2 7.308e-2 agammaglobulinemia 4, autosomal recessive Attention deficit hyperactivity disorder 1 1 BLNK (2) 0.00090 1.00000 7.176e-2 7.308e-2 Al kaissi syndrome Attention deficit hyperactivity disorder 1 0 CDK10 (1) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Cohen-gibson syndrome 1 1 EED (6) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder congenital disorder of glycosylation, type Iw, autosomal dominant 1 1 STT3A (2) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder primary ciliary dyskinesia 32 1 1 RSPH3 (2) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder mucopolysaccharidosis type 6 1 1 ARSB (2) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder retinitis pigmentosa 18 1 1 PRPF3 (2) 0.00090 1.00000 7.176e-2 7.308e-2 2 Attention deficit hyperactivity disorder STT3A-congenital disorder of glycosylation 1 1 STT3A (2) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder X-linked ichthyosis with steryl-sulfatase deficiency 1 1 STS (3) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Young syndrome 1 1 CFAP221 (3) 0.00090 1.00000 7.176e-2 7.308e-2 Attention deficit hyperactivity disorder Intellectual developmental disorder behavioral short stature 1 1 PUS7 (4) 0.00090 1.00000 7.176e-2 7.308e-2 Mountain sickness Obstructive pulmonary disease 1 0 AEBP2 (1) 0.00178 0.50000 7.129e-2 7.266e-2 Oligodendroglioma Thyroid hemiagenesis 1 1 VPS13C (2) 0.00178 0.50000 7.129e-2 7.266e-2 Hypothyroidism Nephropathic cystinosis 1 1 SLC66A1 (2) 0.00265 0.33333 7.112e-2 7.249e-2 Insomnia myopathy caused by variation in POMGNT2 1 1 POMGNT2 (2) 0.00093 1.00000 7.007e-2 7.143e-2 Insomnia Oculocerebrodental syndrome 1 1 PIK3C2A (3) 0.00093 1.00000 7.007e-2 7.143e-2 2 Insomnia Oculocerebrofacial syndrome 1 1 UBE3B (4) 0.00093 1.00000 7.007e-2 7.143e-2 immunodeficiency 23 Insomnia 1 1 PGM3 (2) 0.00093 1.00000 7.007e-2 7.143e-2 fanconi anemia complementation group e Insomnia 1 1 FANCE (2) 0.00093 1.00000 7.007e-2 7.143e-2 glutaryl-CoA dehydrogenase deficiency Insomnia 1 1 GCDH (2) 0.00093 1.00000 7.007e-2 7.143e-2 Insomnia Van esch-o’driscoll syndrome 1 1 POLA1 (2) 0.00093 1.00000 7.007e-2 7.143e-2 Insomnia X-linked reticulate pigmentary disorder 1 1 POLA1 (5) 0.00093 1.00000 7.007e-2 7.143e-2 COG5-congenital disorder of glycosylation Insomnia 1 1 COG5 (2) 0.00093 1.00000 7.007e-2 7.143e-2 C3hex olfactory ability Insomnia 1 1 OR2J3 (2) 0.00093 1.00000 7.007e-2 7.143e-2 Developmental delay with dysmorphic facies and brain anomalies Insomnia 1 1 U2AF2 (5) 0.00093 1.00000 7.007e-2 7.143e-2 Autoinflammation with pulmonary and cutaneous vasculitis Insomnia 1 1 HCK (4) 0.00093 1.00000 7.007e-2 7.143e-2 Autoinflammatory disease, systemic, with vasculitis Insomnia 1 1 LYN (4) 0.00093 1.00000 7.007e-2 7.143e-2 BBS1-related ciliopathy Insomnia 1 1 BBS1 (2) 0.00093 1.00000 7.007e-2 7.143e-2 Benign familial pemphigus Insomnia 1 1 ATP2C1 (2) 0.00093 1.00000 7.007e-2 7.143e-2 Congenital myelofibrosis with anemia Insomnia 1 1 RBSN (3) 0.00093 1.00000 7.007e-2 7.143e-2 Craniolenticulosutural dysplasia Insomnia 1 1 SEC23A (6) 0.00093 1.00000 7.007e-2 7.143e-2 2 Asthma Catifa syndrome 1 1 RIC1 (5) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma Charcot-Marie-Tooth disease, axonal, type 2FF 1 1 CADM3 (2) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma Cleft palate proliferative retinopathy developmental delay 1 1 LRRC32 (4) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma Diaphanospondylodysostosis 1 1 BMPER (6) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma Udp-glucose-hexose-1-phosphate uridylyltransferase 1 1 GALT (2) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma Rothmund-Thomson syndrome type 1 1 1 ANAPC1 (2) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma SEC61B-related polycystic liver disease 1 1 SEC61B (2) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma seizures, early-onset, with neurodegeneration and brain calcifications 1 1 NRROS (2) 0.00094 1.00000 6.936e-2 7.076e-2 Asthma Mineralocortocoid excess 1 1 HSD11B2 (7) 0.00094 1.00000 6.936e-2 7.076e-2 Breast cancer Midline facial cleft 1 1 PCSK7 (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer Thrombocytopenia with platelet secretion defect 1 1 SLFN14 (3) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer thrombotic disease 1 1 MAST2 (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer tooth agenesis, selective, 3 1 1 PAX9 (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer NTHL1-deficiency tumor predisposition syndrome 1 1 NTHL1 (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer platelet-type bleeding disorder 20 1 1 SLFN14 (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer scalp-ear-nipple syndrome 1 1 KCTD1 (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer glycosylphosphatidylinositol biosynthesis defect 17 1 1 PIGH (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer GPR161-related medulloblastoma predisposition 1 1 GPR161 (2) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer Curly hair ankyloblepharon nail dysplasia syndrome 1 1 RIPK4 (3) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer Congenital cataract severe neonatal hepatopathy developmental delay syndrome 1 1 CYP51A1 (3) 0.00094 1.00000 6.923e-2 7.066e-2 Breast cancer C3hex olfactory ability 1 1 OR2J3 (2) 0.00094 1.00000 6.923e-2 7.066e-2 21 Acyl-coa binding domain containing protein 5 deficiency Breast cancer 1 1 ACBD5 (3) 0.00094 1.00000 6.923e-2 7.066e-2 BBS2-related ciliopathy Breast cancer 1 1 BBS2 (2) 0.00094 1.00000 6.923e-2 7.066e-2 3-methylcrotonyl-coa carboxylase deficiency Parkinson disease 1 1 MCCC1 (5) 0.00188 0.50000 6.753e-2 6.897e-2 2 Brody myopathy Parkinson disease 1 1 RABEP2 (2) 0.00188 0.50000 6.753e-2 6.897e-2 Nephronophthisis-like nephropathy Parkinson disease 1 1 SLC41A1 (4) 0.00188 0.50000 6.753e-2 6.897e-2 Parkinson disease Thyroid hemiagenesis 1 1 VPS13C (6) 0.00188 0.50000 6.753e-2 6.897e-2 Scoliosis Webb-dattani syndrome 1 1 ARNT2 (5) 0.00097 1.00000 6.709e-2 6.853e-2 optic atrophy 11 Scoliosis 1 1 YME1L1 (2) 0.00097 1.00000 6.709e-2 6.853e-2 gaze palsy, familial horizontal, with progressive scoliosis 1 Scoliosis 1 1 ROBO3 (2) 0.00097 1.00000 6.709e-2 6.853e-2 glycosylphosphatidylinositol biosynthesis defect 17 Scoliosis 1 1 PIGH (2) 0.00097 1.00000 6.709e-2 6.853e-2 Intellectual developmental disorder seizures dysmorphic gait Scoliosis 1 1 WDR26 (2) 0.00097 1.00000 6.709e-2 6.853e-2 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Scoliosis 1 1 POMP (6) 0.00097 1.00000 6.709e-2 6.853e-2 hermansky-pudlak syndrome 5 Scoliosis 1 1 HPS5 (2) 0.00097 1.00000 6.709e-2 6.853e-2 Hypervalinemia Scoliosis 1 1 BCAT2 (5) 0.00097 1.00000 6.709e-2 6.853e-2 Partial deletion of short arm of chromosome 3 Scoliosis 1 1 CHL1 (2) 0.00097 1.00000 6.709e-2 6.853e-2 2 primary ciliary dyskinesia 19 Scoliosis 1 1 DNAAF11 (2) 0.00097 1.00000 6.709e-2 6.853e-2 Borderline personality disorder Scoliosis 1 0 TPH1 (1) 0.00097 1.00000 6.709e-2 6.853e-2 Delayed sleep phase syndrome Scoliosis 1 1 CRY1 (3) 0.00097 1.00000 6.709e-2 6.853e-2 Cerebrofacial arteriovenous metameric syndrome Scoliosis 1 1 GNA14 (2) 0.00097 1.00000 6.709e-2 6.853e-2 Autoinflammatory disease, systemic, with vasculitis Scoliosis 1 1 LYN (4) 0.00097 1.00000 6.709e-2 6.853e-2 Breast neoplasms Progressive arterial occlusive disease with hypertension 1 1 DAP3 (2) 0.00193 0.50000 6.603e-2 6.749e-2 3-methylcrotonyl-coa carboxylase deficiency Substance abuse 1 1 MCCC2 (5) 0.00193 0.50000 6.590e-2 6.737e-2 2 Acantholytic blistering of oral and laryngeal mucosa Colorectal cancer 1 1 DSG3 (4) 0.00102 1.00000 6.338e-2 6.480e-2 Acces syndrome Colorectal cancer 1 1 UBA2 (3) 0.00102 1.00000 6.338e-2 6.480e-2 Chromosome 19q13.11 deletion syndrome Colorectal cancer 1 1 UBA2 (2) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer pili torti-developmental delay-neurological abnormalities syndrome 1 1 HEPHL1 (2) 0.00102 1.00000 6.338e-2 6.480e-2 21 Colorectal cancer glycogen storage disease VI 1 1 PYGL (2) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer GPR143-related foveal hypoplasia 1 1 GPR143 (2) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 1 1 PPP1R21 (2) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer neuropathy, hereditary sensory and autonomic, type 1C 1 1 SPTLC2 (2) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer Osteootohepatoenteric syndrome 1 1 UNC45A (5) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer Hypochromic sideroblastic anemia 1 1 STEAP3 (6) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer Rin2 syndrome 1 1 RIN2 (5) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer spinocerebellar ataxia, autosomal recessive 23 1 1 TDP2 (2) 0.00102 1.00000 6.338e-2 6.480e-2 Colorectal cancer Intellectual developmental disorder growth metabolic 1 1 DIP2B (3) 0.00102 1.00000 6.338e-2 6.480e-2 Color vision deficiency immunodeficiency 76 1 1 FCHO1 (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency Inflammatory demyelinating polyneuropathy 1 0 CNBD1 (1) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency GNAT2-related retinopathy 1 1 GNAT2 (3) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency goldberg-shprintzen syndrome 1 1 KIFBP (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency Ventriculomegaly with arthrogryposis 1 1 KIDINS220 (5) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency Webb-dattani syndrome 1 1 ARNT2 (5) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency lethal osteosclerotic bone dysplasia 1 1 FAM20C (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency MEGF8-related Carpenter syndrome 1 1 MEGF8 (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 1 PCK1 (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency PLIN1-related familial partial lipodystrophy 1 1 PLIN1 (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency primary ciliary dyskinesia 16 1 1 DNAL1 (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency red color blindness 1 1 OPN1LW (4) 0.00103 1.00000 6.274e-2 6.418e-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 6.418e-2 Color vision deficiency Saccharopinuria 1 1 AASS (3) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency scott syndrome 1 1 ANO6 (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency spastic paraplegia, intellectual disability, nystagmus, and obesity 1 1 KIDINS220 (2) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency Hip dislocation-facial dysmorphism syndrome 1 1 TRIM33 (3) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency hyperlysinemia 1 1 AASS (2) 0.00103 1.00000 6.274e-2 6.418e-2 ciliary dyskinesia, primary, 53 Color vision deficiency 1 1 CLXN (2) 0.00103 1.00000 6.274e-2 6.418e-2 Clark-baraitser syndrome Color vision deficiency 1 1 TRIP12 (5) 0.00103 1.00000 6.274e-2 6.418e-2 Biliary-renal-neuro-skeletal syndrome Color vision deficiency 1 1 IFT56 (4) 0.00103 1.00000 6.274e-2 6.418e-2 Color vision deficiency dilated cardiomyopathy 2B 1 1 GATAD1 (2) 0.00103 1.00000 6.274e-2 6.418e-2 colobomatous microphthalmia-rhizomelic dysplasia syndrome Color vision deficiency 1 1 MAB21L2 (2) 0.00103 1.00000 6.274e-2 6.418e-2 alkylglycerone-phosphate synthase deficiency Color vision deficiency 1 1 AGPS (2) 0.00103 1.00000 6.274e-2 6.418e-2 band heterotopia of brain Color vision deficiency 1 1 EML1 (2) 0.00103 1.00000 6.274e-2 6.418e-2 DPM3-congenital disorder of glycosylation Prostate cancer 1 1 DPM3 (2) 0.00104 1.00000 6.248e-2 6.399e-2 dyskeratosis congenita and related telomere biology disorder Prostate cancer 1 1 RPA1 (2) 0.00104 1.00000 6.248e-2 6.399e-2 bleeding disorder, platelet-type, 22 Prostate cancer 1 1 EPHB2 (4) 0.00104 1.00000 6.248e-2 6.399e-2 3-hydroxyisobutyric aciduria Prostate cancer 1 1 HIBADH (3) 0.00104 1.00000 6.248e-2 6.399e-2 combined immunodeficiency due to GINS1 deficiency Prostate cancer 1 1 GINS1 (2) 0.00104 1.00000 6.248e-2 6.399e-2 congenital disorder of glycosylation type 1E Prostate cancer 1 1 DPM1 (2) 0.00104 1.00000 6.248e-2 6.399e-2 hyper-IgE recurrent infection syndrome 3, autosomal recessive Prostate cancer 1 1 ZNF341 (2) 0.00104 1.00000 6.248e-2 6.399e-2 leukodystrophy, hypomyelinating, 18 Prostate cancer 1 1 DEGS1 (2) 0.00104 1.00000 6.248e-2 6.399e-2 leukodystrophy, hypomyelinating, 22 Prostate cancer 1 1 CLDN11 (2) 0.00104 1.00000 6.248e-2 6.399e-2 FAM111A-related skeletal dysplasia Prostate cancer 1 1 FAM111A (2) 0.00104 1.00000 6.248e-2 6.399e-2 inherited blood coagulation disorder Prostate cancer 1 1 APOLD1 (2) 0.00104 1.00000 6.248e-2 6.399e-2 kidney disorder Prostate cancer 1 1 SLC41A1 (2) 0.00104 1.00000 6.248e-2 6.399e-2 Prostate cancer Thrombocytopenia with platelet secretion defect 1 1 SLFN14 (3) 0.00104 1.00000 6.248e-2 6.399e-2 Prostate cancer thrombotic disease 1 1 MAST2 (2) 0.00104 1.00000 6.248e-2 6.399e-2 Prostate cancer tooth agenesis, selective, 3 1 1 PAX9 (3) 0.00104 1.00000 6.248e-2 6.399e-2 Prostate cancer RAD51D-related cancer predisposition 1 1 RAD51D (2) 0.00104 1.00000 6.248e-2 6.399e-2 Osteocraniostenosis Prostate cancer 1 1 FAM111A (4) 0.00104 1.00000 6.248e-2 6.399e-2 platelet-type bleeding disorder 20 Prostate cancer 1 1 SLFN14 (2) 0.00104 1.00000 6.248e-2 6.399e-2 Diabetes mellitus type 1 Intellectual developmental disorder speech peripheral neuropathy 1 1 NEMF (5) 0.00209 0.50000 6.100e-2 6.253e-2 Intellectual developmental disorder dysmorphic strabismus Neurodevelopmental disorder 1 1 ADAT3 (5) 0.00106 1.00000 6.092e-2 6.245e-2 Intellectual developmental disorder seizures epilepsy Neurodevelopmental disorder 1 1 AP2M1 (4) 0.00106 1.00000 6.092e-2 6.245e-2 Intellectual developmental disorder seizures polymicrogyria Neurodevelopmental disorder 1 1 TCP1 (4) 0.00106 1.00000 6.092e-2 6.245e-2 Intellectual disability with craniofacial dysmorphism and macrocephaly Neurodevelopmental disorder 1 1 H1-4 (2) 0.00106 1.00000 6.092e-2 6.245e-2 kaya-barakat-masson syndrome Neurodevelopmental disorder 1 1 YIF1B (2) 0.00106 1.00000 6.092e-2 6.245e-2 6 Neurodevelopmental disorder Partial deletion of short arm of chromosome 3 1 1 CHL1 (2) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder Perlman syndrome 1 1 DIS3L2 (6) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder PIP5K1C-related neurodevelopmental disorder 1 1 PIP5K1C (4) 0.00106 1.00000 6.092e-2 6.245e-2 microcephalic primordial dwarfism due to RTTN deficiency Neurodevelopmental disorder 1 1 RTTN (2) 0.00106 1.00000 6.092e-2 6.245e-2 Hemiparkinsonism hemiatrophy syndrome Neurodevelopmental disorder 1 0 H3-3B (1) 0.00106 1.00000 6.092e-2 6.245e-2 hereditary fructose intolerance Neurodevelopmental disorder 1 1 ALDOB (2) 0.00106 1.00000 6.092e-2 6.245e-2 Hereditary sensory and autonomic neuropathy with spastic paraplegia Neurodevelopmental disorder 1 1 CCT5 (2) 0.00106 1.00000 6.092e-2 6.245e-2 glutamate pyruvate transaminase 2 deficiency Neurodevelopmental disorder 1 1 GPT2 (4) 0.00106 1.00000 6.092e-2 6.245e-2 6 glycosylphosphatidylinositol biosynthesis defect 15 Neurodevelopmental disorder 1 1 GPAA1 (3) 0.00106 1.00000 6.092e-2 6.245e-2 NAA10-related syndrome Neurodevelopmental disorder 1 1 NAA10 (2) 0.00106 1.00000 6.092e-2 6.245e-2 NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability Neurodevelopmental disorder 1 1 NACC1 (6) 0.00106 1.00000 6.092e-2 6.245e-2 6 neurodegeneration, childhood-onset, with cerebellar atrophy Neurodevelopmental disorder 1 1 AGTPBP1 (4) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1 1 GEMIN5 (5) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 1 TRAPPC4 (5) 0.00106 1.00000 6.092e-2 6.245e-2 6 Neurodevelopmental disorder neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 1 1 PPP1R21 (5) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder with hypotonia, neuropathy, and deafness 1 1 SPTBN4 (5) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 1 1 TRAPPC6B (4) 0.00106 1.00000 6.092e-2 6.245e-2 6 Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 1 1 NARS1 (6) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 1 1 NARS1 (6) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 1 MAPK8IP3 (5) 0.00106 1.00000 6.092e-2 6.245e-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 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 1 1 MED27 (5) 0.00106 1.00000 6.092e-2 6.245e-2 6 Neurodevelopmental disorder neurodevelopmental disorder with spasticity, seizures, and brain abnormalities 1 1 NSRP1 (5) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 1 1 HNRNPK (4) 0.00106 1.00000 6.092e-2 6.245e-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 6.245e-2 Neurodevelopmental disorder Usmani-riazuddin syndrome 1 1 AP1G1 (5) 0.00106 1.00000 6.092e-2 6.245e-2 6 Neurodevelopmental disorder radio-tartaglia syndrome 1 1 SPEN (2) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder Sensory ataxia 1 1 RNF170 (3) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 1 SLC1A4 (2) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder spinocerebellar ataxia, autosomal recessive 28 1 1 THG1L (2) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder Stress-induced neurodegenerative ataxia seizure syndrome 1 1 ADPRS (5) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder SYNCRIP-related neurodevelopmental disorder 1 1 SYNCRIP (2) 0.00106 1.00000 6.092e-2 6.245e-2 Neurodevelopmental disorder syndromic X-linked intellectual disability Raymond type 1 1 ZDHHC9 (2) 0.00106 1.00000 6.092e-2 6.245e-2 Congenital cataract microcephaly intellectual disability syndrome Neurodevelopmental disorder 1 1 MED25 (2) 0.00106 1.00000 6.092e-2 6.245e-2 congenital disorder of glycosylation with defective fucosylation 2 Neurodevelopmental disorder 1 1 FCSK (2) 0.00106 1.00000 6.092e-2 6.245e-2 Desanto-shinawi syndrome Neurodevelopmental disorder 1 1 WAC (6) 0.00106 1.00000 6.092e-2 6.245e-2 Developmental delay with dysmorphic facies and brain anomalies Neurodevelopmental disorder 1 1 U2AF2 (4) 0.00106 1.00000 6.092e-2 6.245e-2 Developmental delay with overweight and facial dysmorphism Neurodevelopmental disorder 1 1 SRRM2 (2) 0.00106 1.00000 6.092e-2 6.245e-2 Developmental delay with variable neurological abnormalities Neurodevelopmental disorder 1 1 LMBRD2 (5) 0.00106 1.00000 6.092e-2 6.245e-2 Dworschak-punetha neurodevelopmental syndrome Neurodevelopmental disorder 1 1 PLXNA1 (5) 0.00106 1.00000 6.092e-2 6.245e-2 6 Early-onset epilepsy-intellectual disability-brain anomalies syndrome Neurodevelopmental disorder 1 1 PIGG (4) 0.00106 1.00000 6.092e-2 6.245e-2 El-hayek-chahrour neurodevelopmental syndrome Neurodevelopmental disorder 1 1 KDM5A (4) 0.00106 1.00000 6.092e-2 6.245e-2 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects Neurodevelopmental disorder 1 1 EXOSC5 (5) 0.00106 1.00000 6.092e-2 6.245e-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 6.245e-2 Chondroblastoma Neurodevelopmental disorder 1 1 H3-3B (2) 0.00106 1.00000 6.092e-2 6.245e-2 Clark-baraitser syndrome Neurodevelopmental disorder 1 1 TRIP12 (6) 0.00106 1.00000 6.092e-2 6.245e-2 6 Argininosuccinic aciduria Neurodevelopmental disorder 1 1 ASL (7) 0.00106 1.00000 6.092e-2 6.245e-2 aspartylglucosaminuria Neurodevelopmental disorder 1 1 AGA (2) 0.00106 1.00000 6.092e-2 6.245e-2 6 Ataxia, sensory, autosomal dominant Neurodevelopmental disorder 1 1 RNF170 (3) 0.00106 1.00000 6.092e-2 6.245e-2 Atypical absence seizure Neurodevelopmental disorder 1 1 ADPRS (4) 0.00106 1.00000 6.092e-2 6.245e-2 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations Neurodevelopmental disorder 1 1 TOP2B (3) 0.00106 1.00000 6.092e-2 6.245e-2 Absence of fingerprints-congenital milia syndrome Neurodevelopmental disorder 1 1 SMARCAD1 (2) 0.00106 1.00000 6.092e-2 6.245e-2 Brainstem dysplasia Neurodevelopmental disorder 1 1 SMG9 (3) 0.00106 1.00000 6.092e-2 6.245e-2 6 Brunet-wagner neurodevelopmental syndrome Neurodevelopmental disorder 1 1 RBL2 (5) 0.00106 1.00000 6.092e-2 6.245e-2 CTR9-related neurodevelopmental disorder Neurodevelopmental disorder 1 1 CTR9 (3) 0.00106 1.00000 6.092e-2 6.245e-2 Nonalcoholic fatty liver disease Thiamine-responsive maple syrup urine disease 1 1 BCKDHB (2) 0.00313 0.33333 6.032e-2 6.202e-2 Brody myopathy Heart failure 1 1 ATP2A1 (6) 0.00212 0.50000 6.012e-2 6.182e-2 Ankylosing spondylitis Interferon gamma receptor deficiency 1 1 IFNGR2 (2) 0.00316 0.33333 5.975e-2 6.145e-2 Central hypoventilation syndrome Mood disorder 1 1 MYO1H (4) 0.00332 0.33333 5.695e-2 5.856e-2 1p36.33 duplication syndrome Alzheimer disease 2 2 ATAD3A (3), ATAD3B (3) 0.00090 0.66667 5.625e-2 5.785e-2 5-oxoprolinase deficiency Atrial fibrillation 1 0 OPLAH (1) 0.00116 1.00000 5.605e-2 5.764e-2 Absence of fingerprints-congenital milia syndrome Atrial fibrillation 1 0 SMARCAD1 (1) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation cardiomyopathy, dilated, 2d 1 1 RPL3L (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Colobomatous macrophthalmia microcornea syndrome 1 1 CRIM1 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 1 1 EXOSC5 (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Chopra-amiel-gordon syndrome 1 1 ANKRD17 (5) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation ciliary dyskinesia, primary, 48, without situs inversus 1 1 NME5 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation COG5-congenital disorder of glycosylation 1 1 COG5 (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Autoinflammation with episodic fever and immune dysregulation 1 1 SHARPIN (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation b-cell immunodeficiency, distal limb anomalies, and urogenital malformations 1 1 TOP2B (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation band heterotopia of brain 1 1 EML1 (2) 0.00116 1.00000 5.605e-2 5.764e-2 34 Atrial fibrillation Curly hair ankyloblepharon nail dysplasia syndrome 1 1 RIPK4 (3) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation immunoskeletal dysplasia with neurodevelopmental abnormalities 1 1 EXTL3 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation inherited blood coagulation disorder 1 1 APOLD1 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Webb-dattani syndrome 1 1 ARNT2 (5) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Yuksel-vogel-bauer syndrome 1 1 DLG5 (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Hemorrhagic destruction of the brain subependymal calcification and cataracts 1 1 JAM3 (4) 0.00116 1.00000 5.605e-2 5.764e-2 34 Atrial fibrillation hermansky-pudlak syndrome 6 1 1 HPS6 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Hoxha-aliu syndrome 1 1 ERI1 (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation hyperphenylalaninemia due to DNAJC12 deficiency 1 1 DNAJC12 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation polyglucosan body myopathy type 2 1 1 GYG1 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation pseudohypoaldosteronism type 2D 1 1 KLHL3 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation radio-tartaglia syndrome 1 1 SPEN (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Regressive neurodevelopmental disorder dystonia seizures 1 1 IRF2BPL (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation Rhizomelic dysplasia, ain-naz type 1 1 GNPNAT1 (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation myopathy, centronuclear, 5 1 1 SPEG (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation nemaline myopathy 7 1 1 CFL2 (4) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation nephronophthisis 20 1 1 MAPKBP1 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation neurodegenerative disease 1 1 IRF2BPL (3) 0.00116 1.00000 5.605e-2 5.764e-2 Atrial fibrillation non-severe combined immunodeficiency due to COPG1 deficiency 1 1 COPG1 (2) 0.00116 1.00000 5.605e-2 5.764e-2 Cardiovascular disease Thyroid hemiagenesis 1 1 PSMD3 (2) 0.00230 0.50000 5.533e-2 5.698e-2 Cardiovascular disease Keratosis palmoplantaris papulosa 1 1 AAGAB (3) 0.00230 0.50000 5.533e-2 5.698e-2 Cardiovascular disease Periventricular leukomalacia 1 1 PLEKHG1 (2) 0.00230 0.50000 5.533e-2 5.698e-2 Burn-mckeown syndrome Cardiovascular disease 1 1 POLR1A (3) 0.00230 0.50000 5.533e-2 5.698e-2 Congenital plasmin inhibitor deficiency Gout 1 1 SERPINF2 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Dalmatian hypouricemia Gout 1 1 SLC22A12 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Alpha-2-plasmin inhibitor deficiency Gout 1 1 SERPINF2 (3) 0.00122 1.00000 5.319e-2 5.479e-2 Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome Gout 1 1 QARS1 (5) 0.00122 1.00000 5.319e-2 5.479e-2 DPM3-congenital disorder of glycosylation Gout 1 1 DPM3 (2) 0.00122 1.00000 5.319e-2 5.479e-2 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Gout 1 1 KDF1 (2) 0.00122 1.00000 5.319e-2 5.479e-2 B4GALT1-congenital disorder of glycosylation Gout 1 1 B4GALT1 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Combined low ldl and fibrinogen Gout 1 1 B4GALT1 (3) 0.00122 1.00000 5.319e-2 5.479e-2 Congenital alpha-2-antiplasmin deficiency Gout 1 1 SERPINF2 (3) 0.00122 1.00000 5.319e-2 5.479e-2 congenital disorder of glycosylation with defective fucosylation 1 Gout 1 1 FUT8 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Congenital glucose-galactose malabsorption Gout 1 1 SLC5A1 (3) 0.00122 1.00000 5.319e-2 5.479e-2 Gout Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1 1 HPRT1 (3) 0.00122 1.00000 5.319e-2 5.479e-2 Gout thrombocytopenia-absent radius syndrome 1 1 RBM8A (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout Wernicke encephalopathy 1 1 TKT (3) 0.00122 1.00000 5.319e-2 5.479e-2 Gout neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 1 1 MED27 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout obsolete glaucoma 1, open angle, F 1 1 ASB10 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout Osteomalacia 1 1 MEPE (3) 0.00122 1.00000 5.319e-2 5.479e-2 Gout lesch-nyhan syndrome 1 1 HPRT1 (3) 0.00122 1.00000 5.319e-2 5.479e-2 Gout leukoencephalopathy with vanishing white matter 4 1 1 EIF2B4 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout meier-gorlin syndrome 2 1 1 ORC4 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout Intellectual developmental disorder peripheral neuropathy 1 1 NUDT2 (5) 0.00122 1.00000 5.319e-2 5.479e-2 glycogen storage disease I Gout 1 1 G6PC1 (2) 0.00122 1.00000 5.319e-2 5.479e-2 glycogen storage disease V Gout 1 1 PYGM (2) 0.00122 1.00000 5.319e-2 5.479e-2 GNAT2-related retinopathy Gout 1 1 GNAT2 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout GPR161-related medulloblastoma predisposition 1 1 GPR161 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout pyruvate kinase deficiency of red cells 1 1 PKLR (2) 0.00122 1.00000 5.319e-2 5.479e-2 Gout RFT1-congenital disorder of glycosylation 1 1 RFT1 (2) 0.00122 1.00000 5.319e-2 5.479e-2 Intellectual developmental disorder Retinitis pigmentosa and erythrocytic microcytosis 1 1 TRNT1 (5) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Richieri costa pereira syndrome 1 1 EIF4A3 (4) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Rigidity and multifocal seizure syndrome, lethal neonatal 1 1 BRAT1 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Robin sequence with cleft mandible and limb anomalies 1 1 EIF4A3 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder schuurs-hoeijmakers syndrome 1 1 PACS1 (2) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 Intellectual developmental disorder Severe neonatal spondylometaphyseal dysplasia 1 1 SBDS (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Sideroblastic anemia with b-cell immunodeficiency 1 1 TRNT1 (5) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder spinocerebellar ataxia type 42 1 1 CACNA1G (4) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder spinocerebellar ataxia type 5 1 1 SPTBN2 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder stankiewicz-isidor syndrome 1 1 PSMD12 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder syndromic X-linked intellectual disability Raymond type 1 1 ZDHHC9 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder syndromic X-linked intellectual disability Siderius type 1 1 PHF8 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder NAA10-related syndrome 1 1 NAA10 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder neonatal-onset encephalopathy with rigidity and seizures 1 1 BRAT1 (2) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 Intellectual developmental disorder neurodevelopmental disorder with severe motor impairment and absent language 1 1 DHX30 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 1 1 MED27 (2) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 Intellectual developmental disorder Oculocerebrorenal syndrome 1 1 OCRL (5) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder ornithine translocase deficiency 1 1 SLC25A15 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Paraparesis 1 1 TECPR2 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Partial deletion of short arm of chromosome 3 1 1 CHL1 (3) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 Hemiparkinsonism hemiatrophy syndrome Intellectual developmental disorder 1 0 H3-3B (1) 0.00123 1.00000 5.254e-2 5.420e-2 hereditary spastic paraplegia 18 Intellectual developmental disorder 1 1 ERLIN2 (3) 0.00123 1.00000 5.254e-2 5.420e-2 holoprosencephaly 12 with or without pancreatic agenesis Intellectual developmental disorder 1 1 CNOT1 (2) 0.00123 1.00000 5.254e-2 5.420e-2 hypomyelinating leukodystrophy 5 Intellectual developmental disorder 1 1 HYCC1 (3) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Urocanase deficiency 1 1 UROC1 (3) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Urocanate hydratase deficiency 1 1 UROC1 (6) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder X-linked intellectual disability, Cabezas type 1 1 CUL4B (2) 0.00123 1.00000 5.254e-2 5.420e-2 Giant cell tumor of bone Intellectual developmental disorder 1 1 H3-3A (2) 0.00123 1.00000 5.254e-2 5.420e-2 glutamate pyruvate transaminase 2 deficiency Intellectual developmental disorder 1 1 GPT2 (2) 0.00123 1.00000 5.254e-2 5.420e-2 6 goldberg-shprintzen syndrome Intellectual developmental disorder 1 1 KIFBP (3) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Lethal neonatal rigidity and multifocal seizure syndrome 1 1 BRAT1 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Malonyl-coa decarboxylase deficiency 1 1 MLYCD (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder megalencephalic leukoencephalopathy with subcortical cysts 2a 1 1 HEPACAM (2) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Intellectual developmental disorder 1 1 UNC80 (2) 0.00123 1.00000 5.254e-2 5.420e-2 6 Intellectual developmental disorder Intellectual developmental disorder dysmorphic 1 1 POU3F3 (2) 0.00123 1.00000 5.254e-2 5.420e-2 6 Intellectual developmental disorder Intellectual developmental disorder dysmorphic hypotonia 1 1 KMT5B (5) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Intellectual developmental disorder dysmorphic ocular 1 1 MTSS2 (3) 0.00123 1.00000 5.254e-2 5.420e-2 6 Intellectual developmental disorder Intellectual developmental disorder dysmorphic seizures 1 1 OTUD6B (5) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Intellectual developmental disorder growth metabolic 1 1 DIP2B (4) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Intellectual developmental disorder growth microcephaly 1 1 CTCF (3) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Intellectual developmental disorder peripheral neuropathy 1 1 NUDT2 (5) 0.00123 1.00000 5.254e-2 5.420e-2 6 Intellectual developmental disorder Intellectual developmental disorder seizures dysmorphic gait 1 1 WDR26 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Intellectual developmental disorder seizures epilepsy 1 1 AP2M1 (4) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Intellectual developmental disorder short stature facial 1 1 FBXL3 (3) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Intellectual developmental disorder short stature facial speech 1 1 FBXL3 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder intellectual disability, autosomal recessive 61 1 1 RUSC2 (5) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder jaberi-elahi syndrome 1 1 GTPBP2 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Intellectual developmental disorder Kidney atrophy 1 1 C12orf57 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Acromelic frontonasal dysostosis Intellectual developmental disorder 1 1 ZSWIM6 (2) 0.00123 1.00000 5.254e-2 5.420e-2 ALG3-congenital disorder of glycosylation Intellectual developmental disorder 1 1 ALG3 (2) 0.00123 1.00000 5.254e-2 5.420e-2 Allan-herndon-dudley syndrome Intellectual developmental disorder 1 1 SLC16A2 (3) 0.00123 1.00000 5.254e-2 5.420e-2 Alpha-mannosidosis Intellectual developmental disorder 1 1 MAN2B1 (4) 0.00123 1.00000 5.254e-2 5.420e-2 Branched-chain keto acid dehydrogenase kinase deficiency Intellectual developmental disorder 1 1 BCKDK (5) 0.00123 1.00000 5.254e-2 5.420e-2 Carnosinemia Intellectual developmental disorder 1 1 CNDP1 (2) 0.00123 1.00000 5.254e-2 5.420e-2 DDOST-congenital disorder of glycosylation Intellectual developmental disorder 1 1 DDOST (2) 0.00123 1.00000 5.254e-2 5.420e-2 Dentici novelli neurodevelopmental syndrome Intellectual developmental disorder 1 1 ZNF526 (4) 0.00123 1.00000 5.254e-2 5.420e-2 aspartylglucosaminuria Intellectual developmental disorder 1 1 AGA (2) 0.00123 1.00000 5.254e-2 5.420e-2 6 Autism-epilepsy syndrome Intellectual developmental disorder 1 1 BCKDK (2) 0.00123 1.00000 5.254e-2 5.420e-2 autosomal recessive spinocerebellar ataxia 14 Intellectual developmental disorder 1 1 SPTBN2 (2) 0.00123 1.00000 5.254e-2 5.420e-2 autosomal recessive spinocerebellar ataxia 20 Intellectual developmental disorder 1 1 SNX14 (3) 0.00123 1.00000 5.254e-2 5.420e-2 Bafopathy Intellectual developmental disorder 1 1 ACTL6A (3) 0.00123 1.00000 5.254e-2 5.420e-2 basilicata-akhtar syndrome Intellectual developmental disorder 1 1 MSL3 (2) 0.00123 1.00000 5.254e-2 5.420e-2 6 Developmental delay with behavioral abnormalities Intellectual developmental disorder 1 1 ADGRL1 (4) 0.00123 1.00000 5.254e-2 5.420e-2 Developmental delay with overweight and facial dysmorphism Intellectual developmental disorder 1 1 SRRM2 (5) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 Early-onset epilepsy-intellectual disability-brain anomalies syndrome Intellectual developmental disorder 1 1 PIGG (4) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 Ectopic thyroid tissue Intellectual developmental disorder 1 1 FBXO31 (5) 0.00123 1.00000 5.254e-2 5.420e-2 El-hayek-chahrour neurodevelopmental syndrome Intellectual developmental disorder 1 1 KDM5A (5) 0.00123 1.00000 5.254e-2 5.420e-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 5.420e-2 Cerebrocostomandibular syndrome Intellectual developmental disorder 1 1 SNRPB (6) 0.00123 1.00000 5.254e-2 5.420e-2 Chondroblastoma Intellectual developmental disorder 1 1 H3-3B (2) 0.00123 1.00000 5.254e-2 5.420e-2 Chopra-amiel-gordon syndrome Intellectual developmental disorder 1 1 ANKRD17 (4) 0.00123 1.00000 5.254e-2 5.420e-2 Cimdag syndrome Intellectual developmental disorder 1 1 VPS4A (3) 0.00123 1.00000 5.254e-2 5.420e-2 Clark-baraitser syndrome Intellectual developmental disorder 1 1 TRIP12 (4) 0.00123 1.00000 5.254e-2 5.420e-2 6 Dilated cardiomyopathy Nephropathic cystinosis 1 0 TAX1BP3 (1) 0.00362 0.33333 5.225e-2 5.412e-2 Bile duct disease Migraine 1 1 FECH (3) 0.00246 0.50000 5.179e-2 5.364e-2 bleeding disorder, platelet-type, 22 Squamous cell carcinoma 1 1 EPHB2 (2) 0.00127 1.00000 5.124e-2 5.307e-2 Citrin deficiency Squamous cell carcinoma 1 1 SLC25A13 (4) 0.00127 1.00000 5.124e-2 5.307e-2 autosomal dominant combined immunodeficiency due to ERBIN deficiency Squamous cell carcinoma 1 1 ERBIN (2) 0.00127 1.00000 5.124e-2 5.307e-2 myopathy with abnormal lipid metabolism Squamous cell carcinoma 1 1 FLAD1 (2) 0.00127 1.00000 5.124e-2 5.307e-2 21 immunodeficiency, common variable, 5 Squamous cell carcinoma 1 1 MS4A1 (2) 0.00127 1.00000 5.124e-2 5.307e-2 Riddle syndrome Squamous cell carcinoma 1 1 RNF168 (7) 0.00127 1.00000 5.124e-2 5.307e-2 Partial deletion of short arm of chromosome 3 Squamous cell carcinoma 1 1 CHL1 (2) 0.00127 1.00000 5.124e-2 5.307e-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 5.307e-2 Squamous cell carcinoma Vexas syndrome 1 1 UBA1 (5) 0.00127 1.00000 5.124e-2 5.307e-2 Congenital anosmia Hearing loss 1 0 TENM1 (1) 0.00257 0.50000 4.964e-2 5.143e-2 Anosmia Hearing loss 1 1 TENM1 (2) 0.00257 0.50000 4.964e-2 5.143e-2 Glioma systemic lupus erythematosus 18 1 1 PLD4 (2) 0.00132 1.00000 4.923e-2 5.101e-2 291 Glioma thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies 1 1 RAP1B (2) 0.00132 1.00000 4.923e-2 5.101e-2 291 Glioma Rin2 syndrome 1 1 RIN2 (5) 0.00132 1.00000 4.923e-2 5.101e-2 Glioma Sarcosine dehydrogenase deficiency 1 1 SARDH (2) 0.00132 1.00000 4.923e-2 5.101e-2 Glioma Sarcosinemia 1 1 SARDH (6) 0.00132 1.00000 4.923e-2 5.101e-2 Glioma neurodevelopmental disorder with or without seizures and gait abnormalities 1 1 GRIA4 (2) 0.00132 1.00000 4.923e-2 5.101e-2 Glioma lethal osteosclerotic bone dysplasia 1 1 FAM20C (2) 0.00132 1.00000 4.923e-2 5.101e-2 Glioma leukodystrophy, hypomyelinating, 14 1 1 UFM1 (2) 0.00132 1.00000 4.923e-2 5.101e-2 Glioma Microscopic polyangiitis 1 0 CDH19 (1) 0.00132 1.00000 4.923e-2 5.101e-2 Giant cell tumor of bone Glioma 1 0 H3-3A (1) 0.00132 1.00000 4.923e-2 5.101e-2 Hypertrophic cardiomyopathy multiple acyl-CoA dehydrogenase deficiency 1 1 ETFDH (2) 0.00386 0.33333 4.906e-2 5.086e-2 Congenital stromal corneal dystrophy Endometriosis 1 1 SPARCL1 (3) 0.00265 0.50000 4.824e-2 5.002e-2 Hypothyroidism Peroxisomal acyl-coa oxidase deficiency 1 1 TEN1 (2) 0.00266 0.50000 4.799e-2 4.976e-2 Diverticular disease Interferon gamma receptor deficiency 1 1 IFNGR2 (2) 0.00397 0.33333 4.774e-2 4.950e-2 Diverticular disease multiple acyl-CoA dehydrogenase deficiency 1 1 ETFA (3) 0.00397 0.33333 4.774e-2 4.950e-2 Global developmental delay Periventricular leukomalacia 1 1 RPS6KC1 (2) 0.00269 0.50000 4.748e-2 4.924e-2 Global developmental delay Turnpenny-fry syndrome 1 1 PCGF2 (5) 0.00269 0.50000 4.748e-2 4.924e-2 Global developmental delay Gm2 gangliosidosis 1 0 HEXA (1) 0.00269 0.50000 4.748e-2 4.924e-2 Psoriasis Thiopurine s-methyltransferase deficiency 1 1 TPMT (4) 0.00137 1.00000 4.747e-2 4.924e-2 Psoriasis Von zumbuzschs disease 1 1 IL36RN (5) 0.00137 1.00000 4.747e-2 4.924e-2 Psoriasis Worster drought syndrome 1 1 TMTC4 (2) 0.00137 1.00000 4.747e-2 4.924e-2 intellectual disability, autosomal recessive 61 Psoriasis 1 1 RUSC2 (2) 0.00137 1.00000 4.747e-2 4.924e-2 autosomal recessive cerebellar ataxia Psoriasis 1 1 CWF19L1 (2) 0.00137 1.00000 4.747e-2 4.924e-2 autosomal recessive osteopetrosis 5 Psoriasis 1 1 OSTM1 (2) 0.00137 1.00000 4.747e-2 4.924e-2 BBS7-related ciliopathy Psoriasis 1 1 BBS7 (2) 0.00137 1.00000 4.747e-2 4.924e-2 Benign flecked retina Psoriasis 1 1 PLA2G5 (3) 0.00137 1.00000 4.747e-2 4.924e-2 14 Ditra syndrome Psoriasis 1 1 IL36RN (6) 0.00137 1.00000 4.747e-2 4.924e-2 congenital myasthenic syndrome 12 Osteoarthritis 1 1 GFPT1 (2) 0.00137 1.00000 4.741e-2 4.920e-2 Congenital right-sided heart lesions Osteoarthritis 1 0 SLC27A6 (1) 0.00137 1.00000 4.741e-2 4.920e-2 Craniolenticulosutural dysplasia Osteoarthritis 1 1 SEC23A (6) 0.00137 1.00000 4.741e-2 4.920e-2 2 Delayed sleep phase syndrome Osteoarthritis 1 1 CRY1 (3) 0.00137 1.00000 4.741e-2 4.920e-2 Congenital lactase deficiency Osteoarthritis 1 1 LCT (4) 0.00137 1.00000 4.741e-2 4.920e-2 2 autosomal recessive spinocerebellar ataxia 14 Osteoarthritis 1 1 SPTBN2 (2) 0.00137 1.00000 4.741e-2 4.920e-2 ciliary dyskinesia, primary, 54 Osteoarthritis 1 1 CFAP54 (2) 0.00137 1.00000 4.741e-2 4.920e-2 Citrin deficiency Osteoarthritis 1 1 SLC25A13 (4) 0.00137 1.00000 4.741e-2 4.920e-2 COG5-congenital disorder of glycosylation Osteoarthritis 1 1 COG5 (2) 0.00137 1.00000 4.741e-2 4.920e-2 12q15q21 microdeletion syndrome Osteoarthritis 1 1 CNOT2 (3) 0.00137 1.00000 4.741e-2 4.920e-2 ALG12-congenital disorder of glycosylation Osteoarthritis 1 1 ALG12 (2) 0.00137 1.00000 4.741e-2 4.920e-2 Intellectual developmental disorder dysmorphic Osteoarthritis 1 1 POU3F3 (2) 0.00137 1.00000 4.741e-2 4.920e-2 Intellectual developmental disorder dysmorphic skeletal Osteoarthritis 1 1 CNOT2 (4) 0.00137 1.00000 4.741e-2 4.920e-2 Intellectual developmental disorder dysmorphic speech skeletal Osteoarthritis 1 1 CNOT2 (2) 0.00137 1.00000 4.741e-2 4.920e-2 Osteoarthritis Pemphigus foliaceus 1 1 RAN (2) 0.00137 1.00000 4.741e-2 4.920e-2 2 Osteoarthritis Perlman syndrome 1 1 DIS3L2 (5) 0.00137 1.00000 4.741e-2 4.920e-2 Osteoarthritis Polydactyly-macrocephaly syndrome 1 1 MAX (5) 0.00137 1.00000 4.741e-2 4.920e-2 long chain 3-hydroxyacyl-coa dehydrogenase deficiency Osteoarthritis 1 1 HADHA (2) 0.00137 1.00000 4.741e-2 4.920e-2 Osteoarthritis retinitis pigmentosa 18 1 1 PRPF3 (2) 0.00137 1.00000 4.741e-2 4.920e-2 2 Osteoarthritis SNUPN-related muscular dystrophy with or without multi-system involvement 1 1 SNUPN (2) 0.00137 1.00000 4.741e-2 4.920e-2 2 Osteoarthritis spinocerebellar ataxia type 5 1 1 SPTBN2 (2) 0.00137 1.00000 4.741e-2 4.920e-2 Osteoarthritis tooth agenesis, selective, 3 1 1 PAX9 (2) 0.00137 1.00000 4.741e-2 4.920e-2 Osteoarthritis Zaki syndrome 1 1 WLS (3) 0.00137 1.00000 4.741e-2 4.920e-2 Osteoarthritis Osteomalacia 1 1 MEPE (3) 0.00137 1.00000 4.741e-2 4.920e-2 Buratti-harel syndrome Non-specific syndromic intellectual disability 1 1 SIAH1 (5) 0.00270 0.50000 4.723e-2 4.907e-2 6 Carnitine acetyltransferase deficiency Eczema 1 1 CRAT (2) 0.00272 0.50000 4.685e-2 4.868e-2 Peptic ulcer disease Tessadori-van haaften neurodevelopmental syndrome 1 1 H4C5 (6) 0.00787 0.16667 4.624e-2 4.805e-2 Aicardi syndrome Retinitis pigmentosa 1 1 TEAD1 (2) 0.00279 0.50000 4.571e-2 4.749e-2 Hemifacial microsomia Peripheral arterial disease 1 1 ZYG11B (2) 0.00552 0.25000 4.520e-2 4.697e-2 Crohn disease hyperphosphatasia with intellectual disability syndrome 4 1 1 PGAP3 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease immunodeficiency 121 with autoinflammation 1 1 PSMB10 (2) 0.00145 1.00000 4.481e-2 4.657e-2 immunodeficiency 121 with autoinflammation Inflammatory bowel disease 1 1 PSMB10 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease immunodeficiency, common variable, 14 1 1 IRF2BP2 (2) 0.00145 1.00000 4.481e-2 4.657e-2 immunodeficiency, common variable, 14 Inflammatory bowel disease 1 1 IRF2BP2 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease inflammatory bowel disease 28 1 1 IL10RA (3) 0.00145 1.00000 4.481e-2 4.657e-2 Inflammatory bowel disease inflammatory bowel disease 28 1 1 IL10RA (5) 0.00145 1.00000 4.481e-2 4.657e-2 Inflammatory bowel disease inflammatory skin and bowel disease, neonatal, 1 1 1 ADAM17 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease Kindler epidermolysis bullosa 1 1 FERMT1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Inflammatory bowel disease Kindler epidermolysis bullosa 1 1 FERMT1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease kindler syndrome 1 1 FERMT1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Inflammatory bowel disease kindler syndrome 1 1 FERMT1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 1 1 DPH5 (2) 0.00145 1.00000 4.481e-2 4.657e-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 4.657e-2 14 FNIP1-associated syndrome Inflammatory bowel disease 1 1 FNIP1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease RFT1-congenital disorder of glycosylation 1 1 RFT1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Inflammatory bowel disease RFT1-congenital disorder of glycosylation 1 1 RFT1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Inflammatory bowel disease schneckenbecken dysplasia 1 1 SLC35D1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Inflammatory bowel disease scott syndrome 1 1 ANO6 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease succinic semialdehyde dehydrogenase deficiency 1 1 ALDH5A1 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Acromelic frontonasal dysostosis Inflammatory bowel disease 1 1 ZSWIM6 (2) 0.00145 1.00000 4.481e-2 4.657e-2 ALG11-congenital disorder of glycosylation Crohn disease 1 1 ALG11 (2) 0.00145 1.00000 4.481e-2 4.657e-2 ALG11-congenital disorder of glycosylation Inflammatory bowel disease 1 1 ALG11 (2) 0.00145 1.00000 4.481e-2 4.657e-2 Alys amyloidosis Crohn disease 1 0 LYZ (1) 0.00145 1.00000 4.481e-2 4.657e-2 Alys amyloidosis Inflammatory bowel disease 1 0 LYZ (1) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease Cystathioninuria 1 1 CTH (6) 0.00145 1.00000 4.481e-2 4.657e-2 Cystathioninuria Inflammatory bowel disease 1 1 CTH (6) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease D-lactic aciduria 1 1 LDHD (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease D-lactic aciduria with gout 1 1 LDHD (2) 0.00145 1.00000 4.481e-2 4.657e-2 Crohn disease Ehrlich tumor carcinoma 1 1 CEACAM20 (2) 0.00145 1.00000 4.481e-2 4.657e-2 14 Chromosome 16p11.2 microdeletion syndrome Crohn disease 1 1 SH2B1 (3) 0.00145 1.00000 4.481e-2 4.657e-2 Chromosome 16p11.2 microdeletion syndrome Inflammatory bowel disease 1 1 SH2B1 (3) 0.00145 1.00000 4.481e-2 4.657e-2 Benign flecked retina Crohn disease 1 1 PLA2G5 (3) 0.00145 1.00000 4.481e-2 4.657e-2 14 Benign flecked retina Inflammatory bowel disease 1 1 PLA2G5 (3) 0.00145 1.00000 4.481e-2 4.657e-2 14 Interferon gamma receptor deficiency Sclerosing cholangitis 1 1 IFNGR2 (2) 0.00429 0.33333 4.415e-2 4.596e-2 Tropical calcific pancreatitis Venous thromboembolism 1 1 SPINK1 (6) 0.00291 0.50000 4.393e-2 4.573e-2 propionic acidemia Venous thromboembolism 1 1 PCCB (2) 0.00291 0.50000 4.393e-2 4.573e-2 Cortisone reductase deficiency Venous thromboembolism 1 1 H6PD (6) 0.00291 0.50000 4.393e-2 4.573e-2 MHC class II deficiency Oligoarticular juvenile idiopathic arthritis 1 1 CIITA (2) 0.00575 0.25000 4.344e-2 4.523e-2 Rheumatoid arthritis systemic lupus erythematosus 18 1 1 PLD4 (4) 0.00151 1.00000 4.299e-2 4.476e-2 Rheumatoid arthritis TELO2-related intellectual disability-neurodevelopmental disorder 1 1 TELO2 (2) 0.00151 1.00000 4.299e-2 4.476e-2 Rheumatoid arthritis Thrombocytopenia with anemia and myelofibrosis 1 1 MPIG6B (6) 0.00151 1.00000 4.299e-2 4.476e-2 Rheumatoid arthritis X-linked ichthyosis with steryl-sulfatase deficiency 1 1 STS (3) 0.00151 1.00000 4.299e-2 4.476e-2 Rheumatoid arthritis You-hoover-fong syndrome 1 1 TELO2 (3) 0.00151 1.00000 4.299e-2 4.476e-2 immunodeficiency 18 Rheumatoid arthritis 1 1 CD3E (3) 0.00151 1.00000 4.299e-2 4.476e-2 Intellectual developmental disorder seizures movement Rheumatoid arthritis 1 1 PDE2A (4) 0.00151 1.00000 4.299e-2 4.476e-2 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Rheumatoid arthritis 1 1 VARS1 (2) 0.00151 1.00000 4.299e-2 4.476e-2 Central centrifugal cicatricial alopecia Rheumatoid arthritis 1 1 PADI3 (2) 0.00151 1.00000 4.299e-2 4.476e-2 colobomatous microphthalmia-rhizomelic dysplasia syndrome Rheumatoid arthritis 1 1 MAB21L2 (3) 0.00151 1.00000 4.299e-2 4.476e-2 Amyotrophic lateral sclerosis Oculopharyngeal muscular dystrophy 1 1 HNRNPA2B1 (5) 0.00299 0.50000 4.266e-2 4.444e-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 4.438e-2 Central nervous system cancer ornithine aminotransferase deficiency 1 1 OAT (2) 0.00152 1.00000 4.260e-2 4.438e-2 Central nervous system cancer systemic lupus erythematosus 18 1 1 PLD4 (2) 0.00152 1.00000 4.260e-2 4.438e-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 4.438e-2 291 Central nervous system cancer leukodystrophy, hypomyelinating, 14 1 1 UFM1 (2) 0.00152 1.00000 4.260e-2 4.438e-2 Central nervous system cancer Microscopic polyangiitis 1 0 CDH19 (1) 0.00152 1.00000 4.260e-2 4.438e-2 Central nervous system cancer Rin2 syndrome 1 1 RIN2 (5) 0.00152 1.00000 4.260e-2 4.438e-2 Central nervous system cancer Sarcosine dehydrogenase deficiency 1 1 SARDH (2) 0.00152 1.00000 4.260e-2 4.438e-2 Central nervous system cancer Sarcosinemia 1 1 SARDH (6) 0.00152 1.00000 4.260e-2 4.438e-2 Cataract-microcornea-metabolic syndrome Central nervous system cancer 1 1 SLC16A12 (2) 0.00152 1.00000 4.260e-2 4.438e-2 Hydatidiform mole Keratoconus 1 0 KIR3DL1 (1) 0.00855 0.16667 4.249e-2 4.428e-2 Hoxha-aliu syndrome Systemic lupus erythematosus 1 1 ERI1 (4) 0.00153 1.00000 4.247e-2 4.427e-2 Systemic lupus erythematosus systemic lupus erythematosus 17 1 1 TLR7 (7) 0.00153 1.00000 4.247e-2 4.427e-2 Systemic lupus erythematosus systemic lupus erythematosus 18 1 1 PLD4 (2) 0.00153 1.00000 4.247e-2 4.427e-2 Systemic lupus erythematosus systemic lupus erythematosus, susceptibility to, 1 1 1 TLR5 (5) 0.00153 1.00000 4.247e-2 4.427e-2 primary ciliary dyskinesia 32 Systemic lupus erythematosus 1 1 RSPH3 (2) 0.00153 1.00000 4.247e-2 4.427e-2 FNIP1-associated syndrome Systemic lupus erythematosus 1 1 FNIP1 (2) 0.00153 1.00000 4.247e-2 4.427e-2 immunodeficiency 87 and autoimmunity Systemic lupus erythematosus 1 1 DEF6 (3) 0.00153 1.00000 4.247e-2 4.427e-2 immunodeficiency, common variable, 7 Systemic lupus erythematosus 1 1 CR2 (6) 0.00153 1.00000 4.247e-2 4.427e-2 47 Intellectual developmental disorder behavioral short stature Systemic lupus erythematosus 1 1 PUS7 (4) 0.00153 1.00000 4.247e-2 4.427e-2 Intellectual developmental disorder dysmorphic facial hearing joint Systemic lupus erythematosus 1 1 TET3 (2) 0.00153 1.00000 4.247e-2 4.427e-2 Ataxia-pancytopenia syndrome Systemic lupus erythematosus 1 1 SAMD9L (5) 0.00153 1.00000 4.247e-2 4.427e-2 Autoinflammatory-pancytopenia syndrome Systemic lupus erythematosus 1 1 DNASE2 (4) 0.00153 1.00000 4.247e-2 4.427e-2 47 Beck-fahrner syndrome Systemic lupus erythematosus 1 1 TET3 (6) 0.00153 1.00000 4.247e-2 4.427e-2 Benign familial pemphigus Systemic lupus erythematosus 1 1 ATP2C1 (2) 0.00153 1.00000 4.247e-2 4.427e-2 3-hydroxyisobutyryl-coa hydrolase deficiency Systemic lupus erythematosus 1 1 HIBCH (3) 0.00153 1.00000 4.247e-2 4.427e-2 Amish lethal microcephaly Systemic lupus erythematosus 1 1 SLC25A19 (5) 0.00153 1.00000 4.247e-2 4.427e-2 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Systemic lupus erythematosus 1 1 CYP21A2 (5) 0.00153 1.00000 4.247e-2 4.427e-2 congenital disorder of glycosylation, type 2v Systemic lupus erythematosus 1 1 EDEM3 (2) 0.00153 1.00000 4.247e-2 4.427e-2 Dalmatian hypouricemia Systemic lupus erythematosus 1 1 SLC22A12 (2) 0.00153 1.00000 4.247e-2 4.427e-2 ehlers-danlos syndrome, musculocontractural type 2 Systemic lupus erythematosus 1 1 DSE (2) 0.00153 1.00000 4.247e-2 4.427e-2 Diaphanospondylodysostosis Hepatocellular carcinoma 1 1 BMPER (6) 0.00154 1.00000 4.215e-2 4.398e-2 Beck-fahrner syndrome Lung cancer 1 1 TET3 (6) 0.00154 1.00000 4.215e-2 4.398e-2 Braddock-carey syndrome Hepatocellular carcinoma 1 1 KIF15 (4) 0.00154 1.00000 4.215e-2 4.398e-2 C3hex olfactory ability Lung cancer 1 1 OR2J3 (2) 0.00154 1.00000 4.215e-2 4.398e-2 21 Carnosinemia Hepatocellular carcinoma 1 1 CNDP1 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Citrin deficiency Lung cancer 1 1 SLC25A13 (4) 0.00154 1.00000 4.215e-2 4.398e-2 Corpus callosum agenesis with intellectual disability, coloboma, micrognathia Hepatocellular carcinoma 1 1 IGBP1 (5) 0.00154 1.00000 4.215e-2 4.398e-2 Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia Hepatocellular carcinoma 1 1 IGBP1 (3) 0.00154 1.00000 4.215e-2 4.398e-2 21q22.11q22.12 microdeletion syndrome Hepatocellular carcinoma 1 1 KIF15 (3) 0.00154 1.00000 4.215e-2 4.398e-2 Acetyl-coa carboxylase deficiency Hepatocellular carcinoma 1 1 ACACA (2) 0.00154 1.00000 4.215e-2 4.398e-2 Aminoaciduria Hepatocellular carcinoma 1 1 CLTRN (2) 0.00154 1.00000 4.215e-2 4.398e-2 combined immunodeficiency due to GINS1 deficiency Hepatocellular carcinoma 1 1 GINS1 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Congenital alpha-fetoprotein deficiency Hepatocellular carcinoma 1 1 AFP (3) 0.00154 1.00000 4.215e-2 4.398e-2 immunodeficiency 18 Lung cancer 1 1 CD3E (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma immunodeficiency 80 with or without congenital cardiomyopathy 1 1 MCM10 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Intellectual developmental disorder dysmorphic facial hearing joint Lung cancer 1 1 TET3 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma systemic lupus erythematosus 17 1 1 TLR7 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma Thoracic malformation 1 1 FGF4 (3) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma Urocanase deficiency 1 1 UROC1 (3) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma Urocanate hydratase deficiency 1 1 UROC1 (5) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma Uterine bilocularis 1 1 HOXA13 (2) 0.00154 1.00000 4.215e-2 4.398e-2 hand-foot-genital syndrome Hepatocellular carcinoma 1 1 HOXA13 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatic glycogen synthase deficiency Hepatocellular carcinoma 1 1 GYS2 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma hereditary sclerosing poikiloderma with tendon and pulmonary involvement 1 1 FAM111B (2) 0.00154 1.00000 4.215e-2 4.398e-2 Lung cancer Rhizomelic limb shortening with dysmorphic features 1 1 PKDCC (5) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma Ruijs-aalfs syndrome 1 1 SPRTN (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma spondyloepiphyseal dysplasia, kondo-fu type 1 1 MBTPS1 (2) 0.00154 1.00000 4.215e-2 4.398e-2 glycogen storage disease VI Hepatocellular carcinoma 1 1 PYGL (2) 0.00154 1.00000 4.215e-2 4.398e-2 glycogen storage disorder due to hepatic glycogen synthase deficiency Hepatocellular carcinoma 1 1 GYS2 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Lung cancer Majeed syndrome 1 1 LPIN2 (7) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma meier-gorlin syndrome 4 1 1 CDT1 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma meier-gorlin syndrome 5 1 1 CDC6 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma meier-gorlin syndrome 6 1 1 GMNN (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma mitchell syndrome 1 1 ACOX1 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma Mitochondrial encephalocardiomyopathy 1 1 TMEM70 (2) 0.00154 1.00000 4.215e-2 4.398e-2 Lung cancer PCARE-related retinopathy 1 1 PCARE (2) 0.00154 1.00000 4.215e-2 4.398e-2 Hepatocellular carcinoma phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 1 PCK1 (2) 0.00154 1.00000 4.215e-2 4.398e-2 hearing loss, autosomal recessive 116 Prostatic neoplasms 1 1 CLDN9 (2) 0.00159 1.00000 4.072e-2 4.257e-2 Prostatic neoplasms systemic lupus erythematosus, susceptibility to, 1 1 1 TLR5 (2) 0.00159 1.00000 4.072e-2 4.257e-2 immunodeficiency 115 with autoinflammation Prostatic neoplasms 1 1 RNF31 (2) 0.00159 1.00000 4.072e-2 4.257e-2 Intellectual developmental disorder seizures polymicrogyria Prostatic neoplasms 1 1 TCP1 (4) 0.00159 1.00000 4.072e-2 4.257e-2 4 neurodevelopmental disorder with severe motor impairment and absent language Prostatic neoplasms 1 1 DHX30 (2) 0.00159 1.00000 4.072e-2 4.257e-2 leukodystrophy, hypomyelinating, 18 Prostatic neoplasms 1 1 DEGS1 (2) 0.00159 1.00000 4.072e-2 4.257e-2 Prostatic neoplasms radio-tartaglia syndrome 1 1 SPEN (2) 0.00159 1.00000 4.072e-2 4.257e-2 Prostatic neoplasms spondyloepiphyseal dysplasia, kondo-fu type 1 1 MBTPS1 (2) 0.00159 1.00000 4.072e-2 4.257e-2 Essential pentosuria Prostatic neoplasms 1 1 DCXR (2) 0.00159 1.00000 4.072e-2 4.257e-2 Familial telangiectasia cancer syndrome Prostatic neoplasms 1 1 ATR (2) 0.00159 1.00000 4.072e-2 4.257e-2 Desanto-shinawi syndrome Prostatic neoplasms 1 1 WAC (6) 0.00159 1.00000 4.072e-2 4.257e-2 developmental and epileptic encephalopathy, 55 Prostatic neoplasms 1 1 PIGP (2) 0.00159 1.00000 4.072e-2 4.257e-2 Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome Prostatic neoplasms 1 1 QARS1 (5) 0.00159 1.00000 4.072e-2 4.257e-2 Dimauro disease Prostatic neoplasms 1 0 PGAM2 (1) 0.00159 1.00000 4.072e-2 4.257e-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 4.257e-2 17-beta-hydroxysteroid dehydrogenase deficiency Prostatic neoplasms 1 1 HSD17B3 (4) 0.00159 1.00000 4.072e-2 4.257e-2 Absence of fingerprints-congenital milia syndrome Prostatic neoplasms 1 1 SMARCAD1 (2) 0.00159 1.00000 4.072e-2 4.257e-2 ADAM9-related retinopathy Prostatic neoplasms 1 1 ADAM9 (2) 0.00159 1.00000 4.072e-2 4.257e-2 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Prostatic neoplasms 1 1 TPP1 (2) 0.00159 1.00000 4.072e-2 4.257e-2 Atelis syndrome Nonalcoholic fatty liver disease 1 1 SLF2 (4) 0.00314 0.50000 4.062e-2 4.251e-2 Intestinal vascular insufficiency Nonalcoholic fatty liver disease 1 0 NEDD9 (1) 0.00314 0.50000 4.062e-2 4.251e-2 Hyperprolinemia Nonalcoholic fatty liver disease 1 1 ALDH4A1 (7) 0.00314 0.50000 4.062e-2 4.251e-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 4.251e-2 Microcephaly Tessadori-van haaften neurodevelopmental syndrome 1 1 H4C3 (5) 0.00893 0.16667 4.061e-2 4.250e-2 Ulcerative colitis Uterine bilocularis 1 1 HOXA13 (2) 0.00163 1.00000 3.968e-2 4.153e-2 phosphohydroxylysinuria Ulcerative colitis 1 1 PHYKPL (2) 0.00163 1.00000 3.968e-2 4.153e-2 immunodeficiency, common variable, 14 Ulcerative colitis 1 1 IRF2BP2 (2) 0.00163 1.00000 3.968e-2 4.153e-2 Kindler epidermolysis bullosa Ulcerative colitis 1 1 FERMT1 (2) 0.00163 1.00000 3.968e-2 4.153e-2 kindler syndrome Ulcerative colitis 1 1 FERMT1 (2) 0.00163 1.00000 3.968e-2 4.153e-2 hand-foot-genital syndrome Ulcerative colitis 1 1 HOXA13 (2) 0.00163 1.00000 3.968e-2 4.153e-2 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties Ulcerative colitis 1 1 DPH5 (2) 0.00163 1.00000 3.968e-2 4.153e-2 14 ehlers-danlos syndrome, musculocontractural type 2 Ulcerative colitis 1 1 DSE (2) 0.00163 1.00000 3.968e-2 4.153e-2 congenital disorder of glycosylation, type IIq Ulcerative colitis 1 1 COG2 (2) 0.00163 1.00000 3.968e-2 4.153e-2 Chromosome 16p11.2 microdeletion syndrome Ulcerative colitis 1 1 SH2B1 (3) 0.00163 1.00000 3.968e-2 4.153e-2 ALG11-congenital disorder of glycosylation Ulcerative colitis 1 1 ALG11 (2) 0.00163 1.00000 3.968e-2 4.153e-2 Alys amyloidosis Ulcerative colitis 1 0 LYZ (1) 0.00163 1.00000 3.968e-2 4.153e-2 Cystathioninuria Ulcerative colitis 1 1 CTH (6) 0.00163 1.00000 3.968e-2 4.153e-2 3-hydroxyisobutyryl-coa hydrolase deficiency Glioblastoma 1 1 HIBCH (3) 0.00164 1.00000 3.942e-2 4.128e-2 Cataract-microcornea-metabolic syndrome Glioblastoma 1 1 SLC16A12 (2) 0.00164 1.00000 3.942e-2 4.128e-2 Glioblastoma ornithine aminotransferase deficiency 1 1 OAT (2) 0.00164 1.00000 3.942e-2 4.128e-2 Glioblastoma systemic lupus erythematosus 18 1 1 PLD4 (2) 0.00164 1.00000 3.942e-2 4.128e-2 291 Glioblastoma thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies 1 1 RAP1B (2) 0.00164 1.00000 3.942e-2 4.128e-2 291 Giant cell tumor of bone Glioblastoma 1 0 H3-3A (1) 0.00164 1.00000 3.942e-2 4.128e-2 Glioblastoma Rin2 syndrome 1 1 RIN2 (5) 0.00164 1.00000 3.942e-2 4.128e-2 Glioblastoma Sarcosine dehydrogenase deficiency 1 1 SARDH (2) 0.00164 1.00000 3.942e-2 4.128e-2 Glioblastoma Sarcosinemia 1 1 SARDH (6) 0.00164 1.00000 3.942e-2 4.128e-2 Glioblastoma leukodystrophy, hypomyelinating, 14 1 1 UFM1 (2) 0.00164 1.00000 3.942e-2 4.128e-2 Glioblastoma Microscopic polyangiitis 1 0 CDH19 (1) 0.00164 1.00000 3.942e-2 4.128e-2 Ankle fracture Uterine fibroid 1 0 CPED1 (1) 0.00325 0.50000 3.935e-2 4.123e-2 Aicardi syndrome Astrocytoma 1 1 TEAD1 (2) 0.00330 0.50000 3.872e-2 4.057e-2 Dementia Dihydropteridine reductase deficiency 1 1 QDPR (5) 0.00169 1.00000 3.832e-2 4.015e-2 C syndrome Dementia 1 1 CD96 (7) 0.00169 1.00000 3.832e-2 4.015e-2 Autoinflammation with episodic fever and immune dysregulation Dementia 1 1 SHARPIN (4) 0.00169 1.00000 3.832e-2 4.015e-2 CNGB1-related retinopathy Dementia 1 1 CNGB1 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia meier-gorlin syndrome 7 1 1 CDC45 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia Webb-dattani syndrome 1 1 ARNT2 (5) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia neuropathy, hereditary sensory and autonomic, type 1A 1 1 SPTLC1 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia Intellectual developmental disorder dysmorphic cardiac 1 1 TMEM94 (4) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia polyglucosan body myopathy type 2 1 1 GYG1 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia primary ciliary dyskinesia 9 1 1 DNAI2 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia Prognathism 1 1 ADAMTS1 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia pseudohypoaldosteronism type 2D 1 1 KLHL3 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia scott syndrome 1 1 ANO6 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia Sedoheptulokinase deficiency 1 1 SHPK (2) 0.00169 1.00000 3.832e-2 4.015e-2 2 Dementia SMARCC1-associated developmental dysgenesis syndrome 1 1 SMARCC1 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Dementia fontaine progeroid syndrome 1 1 SLC25A24 (2) 0.00169 1.00000 3.832e-2 4.015e-2 Diabetes mellitus Tropical calcific pancreatitis 1 1 SPINK1 (5) 0.00336 0.50000 3.808e-2 3.994e-2 Congenital chronic diarrhea with protein-losing enteropathy Diabetes mellitus 1 1 DGAT1 (3) 0.00336 0.50000 3.808e-2 3.994e-2 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Myocardial infarction 1 1 AHDC1 (2) 0.00172 1.00000 3.767e-2 3.951e-2 Beta-ureidopropionase deficiency Myocardial infarction 1 1 UPB1 (7) 0.00172 1.00000 3.767e-2 3.951e-2 Congenital right-sided heart lesions Myocardial infarction 1 0 SLC27A6 (1) 0.00172 1.00000 3.767e-2 3.951e-2 Myocardial infarction Woolly hair-skin fragility syndrome 1 1 TUFT1 (4) 0.00172 1.00000 3.767e-2 3.951e-2 Myocardial infarction Xia-gibbs syndrome 1 1 AHDC1 (3) 0.00172 1.00000 3.767e-2 3.951e-2 immunodeficiency 76 Myocardial infarction 1 1 FCHO1 (2) 0.00172 1.00000 3.767e-2 3.951e-2 Mineralocortocoid excess Myocardial infarction 1 1 HSD11B2 (7) 0.00172 1.00000 3.767e-2 3.951e-2 Myocardial infarction Richieri costa pereira syndrome 1 1 EIF4A3 (5) 0.00172 1.00000 3.767e-2 3.951e-2 Myocardial infarction Robin sequence with cleft mandible and limb anomalies 1 1 EIF4A3 (2) 0.00172 1.00000 3.767e-2 3.951e-2 Bloom syndrome Colorectal neoplasms 1 1 UNG (2) 0.00341 0.50000 3.744e-2 3.929e-2 Childhood kidney wilms tumor Colorectal neoplasms 1 1 TRIM28 (2) 0.00341 0.50000 3.744e-2 3.929e-2 congenital disorder of glycosylation with defective fucosylation 1 Multiple sclerosis 1 1 FUT8 (2) 0.00173 1.00000 3.741e-2 3.926e-2 C syndrome Multiple sclerosis 1 1 CD96 (6) 0.00173 1.00000 3.741e-2 3.926e-2 Baralle-macken syndrome Multiple sclerosis 1 1 COPB1 (4) 0.00173 1.00000 3.741e-2 3.926e-2 Apolipoprotein c-ii deficiency Multiple sclerosis 1 1 APOC2 (5) 0.00173 1.00000 3.741e-2 3.926e-2 Multiple sclerosis RCBTB1-related retinopathy 1 1 RCBTB1 (2) 0.00173 1.00000 3.741e-2 3.926e-2 Multiple sclerosis RFT1-congenital disorder of glycosylation 1 1 RFT1 (2) 0.00173 1.00000 3.741e-2 3.926e-2 Multiple sclerosis seizures, early-onset, with neurodegeneration and brain calcifications 1 1 NRROS (2) 0.00173 1.00000 3.741e-2 3.926e-2 immunodeficiency 106, susceptibility to viral infections Multiple sclerosis 1 1 IFNAR1 (2) 0.00173 1.00000 3.741e-2 3.926e-2 inflammatory bowel disease 25 Multiple sclerosis 1 1 IL10RB (2) 0.00173 1.00000 3.741e-2 3.926e-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 3.926e-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 3.926e-2 Multiple sclerosis Ziegler-huang syndrome 1 1 SLC30A7 (2) 0.00173 1.00000 3.741e-2 3.926e-2 Multiple sclerosis NIK deficiency 1 1 MAP3K14 (2) 0.00173 1.00000 3.741e-2 3.926e-2 leukodystrophy, hypomyelinating, 22 Multiple sclerosis 1 1 CLDN11 (3) 0.00173 1.00000 3.741e-2 3.926e-2 LZTFL1-related ciliopathy Multiple sclerosis 1 1 LZTFL1 (2) 0.00173 1.00000 3.741e-2 3.926e-2 Desbuquois syndrome lethal occipital encephalocele-skeletal dysplasia syndrome 1 1 CYP26B1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome lethal osteosclerotic bone dysplasia 1 1 FAM20C (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome liberfarb syndrome 1 1 PISD (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Majeed syndrome 1 1 LPIN2 (6) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome MEGF8-related Carpenter syndrome 1 1 MEGF8 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome meier-gorlin syndrome 2 1 1 ORC4 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome meier-gorlin syndrome 3 1 1 ORC6 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome meier-gorlin syndrome 4 1 1 CDT1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome meier-gorlin syndrome 5 1 1 CDC6 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome meier-gorlin syndrome 6 1 1 GMNN (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome meier-gorlin syndrome 7 1 1 CDC45 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome mend syndrome 1 1 EBP (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 1 COG4 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome microcephaly with or without short stature 1 1 CEP152 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome 1 1 AMMECR1 (6) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome mucopolysaccharidosis type 3C 1 1 HGSNAT (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome mucopolysaccharidosis type 3D 1 1 GNS (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome mucopolysaccharidosis type 4A 1 1 GALNS (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome mucopolysaccharidosis type 6 1 1 ARSB (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome mucopolysaccharidosis type 7 1 1 GUSB (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome mucopolysaccharidosis-plus syndrome 1 1 VPS33A (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome immunoskeletal dysplasia with neurodevelopmental abnormalities 1 1 EXTL3 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Intellectual developmental disorder growth other organ 1 1 PPM1D (3) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome joubert syndrome 24 1 1 TCTN2 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome RAB23-related Carpenter syndrome 1 1 RAB23 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Rhizomelic dysplasia, ain-naz type 1 1 GNPNAT1 (4) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Rhizomelic limb shortening with dysmorphic features 1 1 PKDCC (5) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Richieri costa pereira syndrome 1 1 EIF4A3 (4) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Roberts syndrome 1 1 ESCO2 (3) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Roberts-sc phocomelia syndrome 1 1 ESCO2 (5) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Robin sequence with cleft mandible and limb anomalies 1 1 EIF4A3 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Saul-wilson syndrome 1 1 COG4 (3) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome schneckenbecken dysplasia 1 1 SLC35D1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Severe neonatal spondylometaphyseal dysplasia 1 1 SBDS (3) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome SF3B4-related acrofacial dysostosis 1 1 SF3B4 (2) 0.00176 1.00000 3.682e-2 3.867e-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 3.867e-2 Desbuquois syndrome spondyloepimetaphyseal dysplasia with joint laxity, type 3 1 1 EXOC6B (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome spondyloepimetaphyseal dysplasia, genevieve type 1 1 NANS (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome syndactyly-telecanthus-anogenital and renal malformations syndrome 1 1 CCNQ (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome FAM111A-related skeletal dysplasia 1 1 FAM111A (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Familial telangiectasia cancer syndrome 1 1 ATR (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome fatty acyl-CoA reductase 1 deficiency 1 1 FAR1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome fatty acyl-CoA reductase 1 upregulation 1 1 FAR1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome fontaine progeroid syndrome 1 1 SLC25A24 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 1 1 ALX1 (6) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome frontorhiny 1 1 ALX3 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome fucosidosis 1 1 FUCA1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome glyceronephosphate O-acyltransferase deficiency 1 1 GNPAT (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome GNPTAB-mucolipidosis 1 1 GNPTAB (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome GNPTG-mucolipidosis 1 1 GNPTG (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Gollop-wolfgang complex 1 1 BHLHA9 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome GPR161-related medulloblastoma predisposition 1 1 GPR161 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome thrombocytopenia-absent radius syndrome 1 1 RBM8A (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome TMEM165-congenital disorder of glycosylation 1 1 TMEM165 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Tricho-dento-osseous syndrome 1 1 DLX3 (6) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome TRIP11-related skeletal dysplasia 1 1 TRIP11 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Uterine bilocularis 1 1 HOXA13 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome X-linked dominant chondrodysplasia punctata 1 1 EBP (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome netherton syndrome 1 1 SPINK5 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 1 1 PPP1R21 (2) 0.00176 1.00000 3.682e-2 3.867e-2 127 Desbuquois syndrome opsismodysplasia 1 1 INPPL1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Osteocraniostenosis 1 1 FAM111A (4) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome hand-foot-genital syndrome 1 1 HOXA13 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome hyperparathyroidism 2 with jaw tumors 1 1 CDC73 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome hyperphosphatasia with intellectual disability syndrome 1 1 1 PIGV (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome hypopigmentation, organomegaly, and delayed myelination and development 1 1 CLCN7 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Parathyroid carcinoma 1 1 CDC73 (4) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Parathyroid neoplasm 1 1 CDC73 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Peroxisomal fatty acyl-coa reductase 1 disorder 1 1 FAR1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Postaxial acrofacial dysostosis 1 1 DHODH (4) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome pycnodysostosis 1 1 CTSK (2) 0.00176 1.00000 3.682e-2 3.867e-2 Acromelic frontonasal dysostosis Desbuquois syndrome 1 1 ZSWIM6 (2) 0.00176 1.00000 3.682e-2 3.867e-2 ALG12-congenital disorder of glycosylation Desbuquois syndrome 1 1 ALG12 (2) 0.00176 1.00000 3.682e-2 3.867e-2 ALG3-congenital disorder of glycosylation Desbuquois syndrome 1 1 ALG3 (2) 0.00176 1.00000 3.682e-2 3.867e-2 ALG9-associated autosomal dominant polycystic kidney disease Desbuquois syndrome 1 1 ALG9 (2) 0.00176 1.00000 3.682e-2 3.867e-2 alkylglycerone-phosphate synthase deficiency Desbuquois syndrome 1 1 AGPS (2) 0.00176 1.00000 3.682e-2 3.867e-2 Alpha-mannosidosis Desbuquois syndrome 1 1 MAN2B1 (4) 0.00176 1.00000 3.682e-2 3.867e-2 Cataract-neurodevelopmental syndrome Desbuquois syndrome 1 1 FAR1 (4) 0.00176 1.00000 3.682e-2 3.867e-2 Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy Desbuquois syndrome 1 1 CTSA (3) 0.00176 1.00000 3.682e-2 3.867e-2 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects Desbuquois syndrome 1 1 EXOSC5 (5) 0.00176 1.00000 3.682e-2 3.867e-2 Cerebrocostomandibular syndrome Desbuquois syndrome 1 1 SNRPB (6) 0.00176 1.00000 3.682e-2 3.867e-2 chondrodysplasia with joint dislocations, gpapp type Desbuquois syndrome 1 1 BPNT2 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Cleft lip/palate with abnormal thumbs and microcephaly Desbuquois syndrome 1 1 ESCO2 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Codas syndrome Desbuquois syndrome 1 1 LONP1 (6) 0.00176 1.00000 3.682e-2 3.867e-2 COG1-congenital disorder of glycosylation Desbuquois syndrome 1 1 COG1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 COG4-congenital disorder of glycosylation Desbuquois syndrome 1 1 COG4 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Desmosterolosis 1 1 DHCR24 (7) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Diaphanospondylodysostosis 1 1 BMPER (6) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Doughnut lesion of calvaria and bone fragility syndrome 1 1 SGMS2 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome ehlers-danlos syndrome, musculocontractural type 2 1 1 DSE (2) 0.00176 1.00000 3.682e-2 3.867e-2 Desbuquois syndrome Enteropathy 1 1 SLCO2A1 (3) 0.00176 1.00000 3.682e-2 3.867e-2 aspartylglucosaminuria Desbuquois syndrome 1 1 AGA (2) 0.00176 1.00000 3.682e-2 3.867e-2 autosomal dominant osteopetrosis 2 Desbuquois syndrome 1 1 CLCN7 (2) 0.00176 1.00000 3.682e-2 3.867e-2 autosomal recessive osteopetrosis 4 Desbuquois syndrome 1 1 CLCN7 (2) 0.00176 1.00000 3.682e-2 3.867e-2 autosomal recessive osteopetrosis 5 Desbuquois syndrome 1 1 OSTM1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 autosomal recessive osteopetrosis 8 Desbuquois syndrome 1 1 SNX10 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Combined deficiency of sialidase and beta galactosidase Desbuquois syndrome 1 1 CTSA (2) 0.00176 1.00000 3.682e-2 3.867e-2 Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Desbuquois syndrome 1 0 ACP5 (1) 0.00176 1.00000 3.682e-2 3.867e-2 congenital disorder of glycosylation type 1E Desbuquois syndrome 1 1 DPM1 (2) 0.00176 1.00000 3.682e-2 3.867e-2 Brachytelephalangic chondrodysplasia punctata Desbuquois syndrome 1 1 ARSL (3) 0.00176 1.00000 3.682e-2 3.867e-2 Calvarial doughnut lesions with bone fragility Desbuquois syndrome 1 1 SGMS2 (4) 0.00176 1.00000 3.682e-2 3.867e-2 Camptosynpolydactyly Desbuquois syndrome 1 1 BHLHA9 (5) 0.00176 1.00000 3.682e-2 3.867e-2 bleeding disorder, platelet-type, 22 Oligodendroglioma 1 1 EPHB2 (2) 0.00179 1.00000 3.630e-2 3.832e-2 C syndrome Oligodendroglioma 1 1 CD96 (7) 0.00179 1.00000 3.630e-2 3.832e-2 ciliary dyskinesia, primary, 42 Obstructive pulmonary disease 1 1 MCIDAS (2) 0.00179 1.00000 3.630e-2 3.832e-2 1q44 microdeletion syndrome Oligodendroglioma 1 1 HNRNPU (3) 0.00179 1.00000 3.630e-2 3.832e-2 Alanine-glyoxylate aminotransferase deficiency Oligodendroglioma 1 1 AGXT (2) 0.00179 1.00000 3.630e-2 3.832e-2 amyotrophic lateral sclerosis type 23 Obstructive pulmonary disease 1 1 ANXA11 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Colobomatous macrophthalmia microcornea syndrome Obstructive pulmonary disease 1 1 CRIM1 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Colobomatous macrophthalmia microcornea syndrome Oligodendroglioma 1 1 CRIM1 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Congenital arthrogryposis with anterior horn cell disease Oligodendroglioma 1 1 GLE1 (3) 0.00179 1.00000 3.630e-2 3.832e-2 congenital disorder of glycosylation with defective fucosylation 1 Obstructive pulmonary disease 1 1 FUT8 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Dimethylglycine dehydrogenase deficiency Obstructive pulmonary disease 1 1 DMGDH (7) 0.00179 1.00000 3.630e-2 3.832e-2 Arthrogryposis with anterior horn cell disease Oligodendroglioma 1 1 GLE1 (2) 0.00179 1.00000 3.630e-2 3.832e-2 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations Obstructive pulmonary disease 1 1 TOP2B (2) 0.00179 1.00000 3.630e-2 3.832e-2 Oligodendroglioma progressive pseudorheumatoid arthropathy of childhood 1 1 CCN6 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Erythrocyte amp deaminase deficiency Obstructive pulmonary disease 1 1 AMPD3 (5) 0.00179 1.00000 3.630e-2 3.832e-2 Inflammatory demyelinating polyneuropathy Oligodendroglioma 1 0 CNBD1 (1) 0.00179 1.00000 3.630e-2 3.832e-2 Intellectual developmental disorder growth microcephaly Oligodendroglioma 1 1 CTCF (2) 0.00179 1.00000 3.630e-2 3.832e-2 lysinuric protein intolerance Oligodendroglioma 1 1 SLC7A7 (2) 0.00179 1.00000 3.630e-2 3.832e-2 LZTFL1-related ciliopathy Oligodendroglioma 1 1 LZTFL1 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Oligodendroglioma retinitis pigmentosa 86 1 1 KIAA1549 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Obstructive pulmonary disease seckel syndrome 10 1 1 NSMCE2 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Oligodendroglioma seckel syndrome 10 1 1 NSMCE2 (2) 0.00179 1.00000 3.630e-2 3.832e-2 HAVCR2-related cancer predisposition Oligodendroglioma 1 1 HAVCR2 (2) 0.00179 1.00000 3.630e-2 3.832e-2 hereditary spastic paraplegia 18 Oligodendroglioma 1 1 ERLIN2 (2) 0.00179 1.00000 3.630e-2 3.832e-2 hermansky-pudlak syndrome 1 Oligodendroglioma 1 1 HPS1 (2) 0.00179 1.00000 3.630e-2 3.832e-2 Obstructive pulmonary disease Young syndrome 1 1 CFAP221 (3) 0.00179 1.00000 3.630e-2 3.832e-2 myopathy, centronuclear, 5 Obstructive pulmonary disease 1 1 SPEG (2) 0.00179 1.00000 3.630e-2 3.832e-2 myopathy, centronuclear, 5 Oligodendroglioma 1 1 SPEG (2) 0.00179 1.00000 3.630e-2 3.832e-2 nanophthalmos 4 Oligodendroglioma 1 1 TMEM98 (2) 0.00179 1.00000 3.630e-2 3.832e-2 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities Obstructive pulmonary disease 1 1 NSRP1 (2) 0.00179 1.00000 3.630e-2 3.832e-2 14 Gastroesophageal reflux disease Keratosis palmoplantaris papulosa 1 1 AAGAB (3) 0.00356 0.50000 3.591e-2 3.797e-2 Amelocerebrohypohidrotic syndrome Depression 1 1 SLC13A5 (2) 0.00356 0.50000 3.591e-2 3.797e-2 Cystinosis Dilated cardiomyopathy 1 0 TAX1BP3 (1) 0.00364 0.50000 3.515e-2 3.716e-2 Demyelinating leukodystrophy Parkinson disease 1 1 LMNB1 (2) 0.00189 1.00000 3.436e-2 3.633e-2 Acantholytic blistering of oral and laryngeal mucosa Parkinson disease 1 1 DSG3 (4) 0.00189 1.00000 3.436e-2 3.633e-2 Adult-onset dystonia-parkinsonism Parkinson disease 1 1 SLC39A14 (2) 0.00189 1.00000 3.436e-2 3.633e-2 amyotrophic lateral sclerosis type 9 Parkinson disease 1 1 ANG (2) 0.00189 1.00000 3.436e-2 3.633e-2 Antibody deficiency Parkinson disease 1 1 CD19 (2) 0.00189 1.00000 3.436e-2 3.633e-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 3.633e-2 2 Chromosome 15q deletion syndrome Parkinson disease 1 1 MCTP2 (3) 0.00189 1.00000 3.436e-2 3.633e-2 Branched-chain keto acid dehydrogenase kinase deficiency Parkinson disease 1 1 BCKDK (6) 0.00189 1.00000 3.436e-2 3.633e-2 Autism-epilepsy syndrome Parkinson disease 1 1 BCKDK (2) 0.00189 1.00000 3.436e-2 3.633e-2 Diabetes deafness developmental delay and short stature syndrome Parkinson disease 1 1 MANF (3) 0.00189 1.00000 3.436e-2 3.633e-2 2 Dystonia-parkinsonism-hypermanganesemia syndrome Parkinson disease 1 1 SLC39A14 (2) 0.00189 1.00000 3.436e-2 3.633e-2 immunodeficiency, common variable, 3 Parkinson disease 1 1 CD19 (2) 0.00189 1.00000 3.436e-2 3.633e-2 inherited interstitial lung disease Parkinson disease 1 1 LAMP3 (2) 0.00189 1.00000 3.436e-2 3.633e-2 2 khan-khan-katsanis syndrome Parkinson disease 1 1 NCAPG2 (3) 0.00189 1.00000 3.436e-2 3.633e-2 kidney disorder Parkinson disease 1 1 SLC41A1 (2) 0.00189 1.00000 3.436e-2 3.633e-2 kufor-rakeb syndrome Parkinson disease 1 1 ATP13A2 (3) 0.00189 1.00000 3.436e-2 3.633e-2 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus Parkinson disease 1 1 TNR (2) 0.00189 1.00000 3.436e-2 3.633e-2 fanconi anemia complementation group f Parkinson disease 1 1 FANCF (2) 0.00189 1.00000 3.436e-2 3.633e-2 Genetic generalized epilepsy Parkinson disease 1 1 TNK2 (2) 0.00189 1.00000 3.436e-2 3.633e-2 Parkinson disease Partial deletion of short arm of chromosome 3 1 1 CHL1 (2) 0.00189 1.00000 3.436e-2 3.633e-2 2 Parkinson disease progressive pseudorheumatoid arthropathy of childhood 1 1 CCN6 (2) 0.00189 1.00000 3.436e-2 3.633e-2 microcephaly 26, primary, autosomal dominant Parkinson disease 1 1 LMNB1 (2) 0.00189 1.00000 3.436e-2 3.633e-2 Parkinson disease Transaldolase deficiency 1 1 TALDO1 (6) 0.00189 1.00000 3.436e-2 3.633e-2 Parkinson disease spermatogenic failure 39 1 1 DNAH17 (2) 0.00189 1.00000 3.436e-2 3.633e-2 hypomyelinating leukodystrophy 5 Parkinson disease 1 1 HYCC1 (2) 0.00189 1.00000 3.436e-2 3.633e-2 Intellectual disability Kleine-levin syndrome 1 0 NAA10 (1) 0.01205 0.14286 3.405e-2 3.605e-2 Breast neoplasms Hypotrichosis and recurrent skin vesicles 1 1 DSC3 (3) 0.00193 1.00000 3.358e-2 3.555e-2 4 Breast neoplasms Intellectual developmental disorder growth other organ 1 1 PPM1D (3) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Intellectual developmental disorder peripheral neuropathy 1 1 NUDT2 (6) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Intellectual developmental disorder seizures movement 1 1 PDE2A (5) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Hereditary sensory and autonomic neuropathy with spastic paraplegia 1 1 CCT5 (3) 0.00193 1.00000 3.358e-2 3.555e-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 3.555e-2 Breast neoplasms Prognathism 1 1 ADAMTS1 (2) 0.00193 1.00000 3.358e-2 3.555e-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 3.555e-2 Breast neoplasms neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 1 1 HNRNPK (2) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Thoracic malformation 1 1 FGF4 (3) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Uric acid urolithiasis 1 1 ZNF365 (2) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Uridine-cytidineuria 1 1 SLC28A1 (3) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Diabetic macular edema 1 1 MRPL19 (2) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Diffuse lymphatic malformation 1 1 ARAF (2) 0.00193 1.00000 3.358e-2 3.555e-2 4 Breast neoplasms Corpus callosum agenesis with intellectual disability, coloboma, micrognathia 1 1 IGBP1 (5) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia 1 1 IGBP1 (3) 0.00193 1.00000 3.358e-2 3.555e-2 Bosch-boonstra-schaaf optic atrophy syndrome Breast neoplasms 1 1 NR2F1 (5) 0.00193 1.00000 3.358e-2 3.555e-2 Breast neoplasms Congenital alpha-fetoprotein deficiency 1 1 AFP (3) 0.00193 1.00000 3.358e-2 3.555e-2 Cohen-gibson syndrome Substance abuse 1 1 EED (6) 0.00193 1.00000 3.351e-2 3.551e-2 agammaglobulinemia 4, autosomal recessive Substance abuse 1 1 BLNK (2) 0.00193 1.00000 3.351e-2 3.551e-2 cardiomyopathy, dilated, 2j Substance abuse 1 1 FLII (2) 0.00193 1.00000 3.351e-2 3.551e-2 Beck-fahrner syndrome Substance abuse 1 1 TET3 (6) 0.00193 1.00000 3.351e-2 3.551e-2 Bilateral cleft lip Substance abuse 1 1 PLEKHA5 (2) 0.00193 1.00000 3.351e-2 3.551e-2 Substance abuse xeroderma pigmentosum group E 1 1 DDB2 (2) 0.00193 1.00000 3.351e-2 3.551e-2 HELIOS deficiency Substance abuse 1 1 IKZF2 (2) 0.00193 1.00000 3.351e-2 3.551e-2 hermansky-pudlak syndrome 5 Substance abuse 1 1 HPS5 (2) 0.00193 1.00000 3.351e-2 3.551e-2 Intellectual developmental disorder dysmorphic facial hearing joint Substance abuse 1 1 TET3 (2) 0.00193 1.00000 3.351e-2 3.551e-2 myopathy caused by variation in POMGNT2 Substance abuse 1 1 POMGNT2 (2) 0.00193 1.00000 3.351e-2 3.551e-2 neurodevelopmental disorder with language impairment and behavioral abnormalities Substance abuse 1 1 GRIA2 (2) 0.00193 1.00000 3.351e-2 3.551e-2 neurodevelopmental disorder with or without seizures and gait abnormalities Substance abuse 1 1 GRIA4 (2) 0.00193 1.00000 3.351e-2 3.551e-2 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Substance abuse 1 1 MED27 (2) 0.00193 1.00000 3.351e-2 3.551e-2 Tourette syndrome Trichotillomania 1 1 SLITRK1 (5) 0.00385 0.50000 3.323e-2 3.524e-2 Lewis lung carcinoma Lung neoplasms 1 0 LECT2 (1) 0.00391 0.50000 3.272e-2 3.470e-2 Long qt syndrome Oculopharyngodistal myopathy 1 1 LRP12 (6) 0.00935 0.20000 3.269e-2 3.467e-2 Mountain sickness Pancreatic cancer 1 0 TACC1 (1) 0.00395 0.50000 3.234e-2 3.430e-2 Anorexia nervosa Hyperprolinemia 1 1 ALDH4A1 (7) 0.00395 0.50000 3.234e-2 3.430e-2 Pancreatic cancer Trichotillomania 1 1 SLITRK1 (5) 0.00395 0.50000 3.234e-2 3.430e-2 Kidney failure Sandhoff disease 1 1 HEXB (7) 0.00395 0.50000 3.234e-2 3.430e-2 Anorexia nervosa Butyryl-coa dehydrogenase deficiency 1 1 ACADS (3) 0.00395 0.50000 3.234e-2 3.430e-2 Nephropathic cystinosis Nephrotic syndrome 1 1 CTNS (5) 0.00592 0.33333 3.200e-2 3.395e-2 Cardiomyopathy Congenital chronic diarrhea with protein-losing enteropathy 1 1 DGAT1 (2) 0.00407 0.50000 3.144e-2 3.336e-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 3.309e-2 3-methylcrotonyl-coa carboxylase deficiency Mitochondrial disease 1 1 MCCC2 (4) 0.00410 0.50000 3.119e-2 3.309e-2 Mitochondrial disease Sandhoff disease 1 0 GFM2 (1) 0.00410 0.50000 3.119e-2 3.309e-2 62 Diabetes mellitus type 1 NIK deficiency 1 1 MAP3K14 (2) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 MAN1B1-congenital disorder of glycosylation 1 1 MAN1B1 (2) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 maturity-onset diabetes of the young type 8 1 1 CEL (3) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 Mineralocortocoid excess 1 1 HSD11B2 (7) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 Pemphigus foliaceus 1 1 RAN (2) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 PGM1-congenital disorder of glycosylation 1 1 PGM1 (2) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 Thoracic malformation 1 1 FGF4 (3) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 Intellectual developmental disorder neuropsychiatric 1 1 SLC45A1 (4) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 hyperphosphatasia with intellectual disability syndrome 4 1 1 PGAP3 (2) 0.00209 1.00000 3.098e-2 3.287e-2 Diabetes mellitus type 1 Diaphanospondylodysostosis 1 1 BMPER (6) 0.00209 1.00000 3.098e-2 3.287e-2 Developmental delay with intellectual disability and obesity Heart failure 1 1 PHIP (2) 0.00212 1.00000 3.052e-2 3.241e-2 Chung-jansen syndrome Heart failure 1 1 PHIP (2) 0.00212 1.00000 3.052e-2 3.241e-2 Acetyl-coa carboxylase deficiency Heart failure 1 1 ACACA (3) 0.00212 1.00000 3.052e-2 3.241e-2 Congenital right-sided heart lesions Heart failure 1 0 SLC27A6 (1) 0.00212 1.00000 3.052e-2 3.241e-2 Heart failure Hmg-coa synthase deficiency 1 1 HMGCS2 (4) 0.00212 1.00000 3.052e-2 3.241e-2 fontaine progeroid syndrome Heart failure 1 1 SLC25A24 (2) 0.00212 1.00000 3.052e-2 3.241e-2 Heart failure PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 1 PHIP (2) 0.00212 1.00000 3.052e-2 3.241e-2 Heart failure phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 1 PCK1 (3) 0.00212 1.00000 3.052e-2 3.241e-2 34 Heart failure pseudohypoaldosteronism type 2D 1 1 KLHL3 (2) 0.00212 1.00000 3.052e-2 3.241e-2 Heart failure Yoon-bellen neurodevelopmental syndrome 1 1 OGDHL (4) 0.00212 1.00000 3.052e-2 3.241e-2 34 Ovarian cancer Riboflavin deficiency 1 1 SLC52A1 (4) 0.00214 1.00000 3.026e-2 3.215e-2 maternal riboflavin deficiency Ovarian cancer 1 1 SLC52A1 (2) 0.00214 1.00000 3.026e-2 3.215e-2 Intellectual developmental disorder dysmorphic skeletal Ovarian cancer 1 1 CNOT2 (4) 0.00214 1.00000 3.026e-2 3.215e-2 Intellectual developmental disorder dysmorphic speech skeletal Ovarian cancer 1 1 CNOT2 (2) 0.00214 1.00000 3.026e-2 3.215e-2 fanconi anemia complementation group e Ovarian cancer 1 1 FANCE (2) 0.00214 1.00000 3.026e-2 3.215e-2 CTR9-related neurodevelopmental disorder Ovarian cancer 1 1 CTR9 (2) 0.00214 1.00000 3.026e-2 3.215e-2 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Ovarian cancer 1 1 PDSS1 (4) 0.00214 1.00000 3.026e-2 3.215e-2 12q15q21 microdeletion syndrome Ovarian cancer 1 1 CNOT2 (3) 0.00214 1.00000 3.026e-2 3.215e-2 BARD1-related cancer predisposition Ovarian cancer 1 0 BARD1 (1) 0.00214 1.00000 3.026e-2 3.215e-2 ciliary dyskinesia, primary, 42 Ovarian cancer 1 1 MCIDAS (2) 0.00214 1.00000 3.026e-2 3.215e-2 ciliary dyskinesia, primary, 53 Ovarian cancer 1 1 CLXN (2) 0.00214 1.00000 3.026e-2 3.215e-2 Butyryl-coa dehydrogenase deficiency Obsessive-compulsive disorder 1 1 ACADS (3) 0.00424 0.50000 3.016e-2 3.206e-2 Obsessive-compulsive disorder Trichotillomania 1 1 HOXB8 (2) 0.00424 0.50000 3.016e-2 3.206e-2 Epilepsy Lewis lung carcinoma 1 1 TXNRD1 (2) 0.00426 0.50000 3.004e-2 3.193e-2 Congenital stromal corneal dystrophy Epilepsy 1 1 SPARCL1 (3) 0.00426 0.50000 3.004e-2 3.193e-2 Candle syndrome Dental caries 1 1 PSMB8 (2) 0.00429 0.50000 2.978e-2 3.166e-2 Dental caries Smith-mccort dysplasia 1 1 DYM (6) 0.00429 0.50000 2.978e-2 3.166e-2 Dental caries Intestinal vascular insufficiency 1 0 NEDD9 (1) 0.00429 0.50000 2.978e-2 3.166e-2 Ileocolitis Ocular sarcoidosis 1 0 MAGI1 (1) 0.01515 0.12500 2.975e-2 3.163e-2 Appendiceal disorder Premature ovarian failure 1 1 MND1 (2) 0.00847 0.25000 2.929e-2 3.114e-2 Central hypoventilation syndrome Neuroblastoma 1 1 PHOX2B (7) 0.00649 0.33333 2.913e-2 3.098e-2 Amelocerebrohypohidrotic syndrome Developmental and epileptic encephalopathy 1 1 SLC13A5 (7) 0.00450 0.50000 2.837e-2 3.017e-2 Gm2 gangliosidosis Psychiatric disorders 1 1 GM2A (3) 0.00452 0.50000 2.824e-2 3.004e-2 Erythrocyte amp deaminase deficiency Melanoma 1 1 AMPD3 (5) 0.00229 1.00000 2.825e-2 3.004e-2 free sialic acid storage disease Melanoma 1 1 SLC17A5 (2) 0.00229 1.00000 2.825e-2 3.004e-2 Hoxha-aliu syndrome Neurotic disorder 1 1 ERI1 (4) 0.00229 1.00000 2.825e-2 3.004e-2 hypomyelinating leukodystrophy 13 Melanoma 1 1 HIKESHI (2) 0.00229 1.00000 2.825e-2 3.004e-2 Neurotic disorder Neutrophilic leukemia 1 1 CSF3R (2) 0.00229 1.00000 2.825e-2 3.004e-2 Neurotic disorder Oculocerebrofacial syndrome 1 1 UBE3B (4) 0.00229 1.00000 2.825e-2 3.004e-2 lesch-nyhan syndrome Neurotic disorder 1 1 HPRT1 (2) 0.00229 1.00000 2.825e-2 3.004e-2 meier-gorlin syndrome 2 Neurotic disorder 1 1 ORC4 (2) 0.00229 1.00000 2.825e-2 3.004e-2 Melanoma Rufous oculocutaneous albinism 1 1 TYRP1 (2) 0.00229 1.00000 2.825e-2 3.004e-2 Melanoma Short telomere syndrome 1 1 ACD (3) 0.00229 1.00000 2.825e-2 3.004e-2 Melanoma Spastic ataxia optic atrophy dysarthria syndrome 1 1 MTPAP (2) 0.00229 1.00000 2.825e-2 3.004e-2 Neurotic disorder syndromic multisystem autoimmune disease due to ITCH deficiency 1 1 ITCH (2) 0.00229 1.00000 2.825e-2 3.004e-2 Neurotic disorder Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1 1 HPRT1 (2) 0.00229 1.00000 2.825e-2 3.004e-2 Neurotic disorder psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 1 1 SLC30A9 (2) 0.00229 1.00000 2.825e-2 3.004e-2 Al kaissi syndrome Melanoma 1 0 CDK10 (1) 0.00229 1.00000 2.825e-2 3.004e-2 amyotrophic lateral sclerosis type 15 Neurotic disorder 1 1 UBQLN2 (2) 0.00229 1.00000 2.825e-2 3.004e-2 ciliary dyskinesia, primary, 45 Neurotic disorder 1 1 TTC12 (2) 0.00229 1.00000 2.825e-2 3.004e-2 Congenital cerebellar hypoplasia Neurotic disorder 1 1 OXR1 (3) 0.00229 1.00000 2.825e-2 3.004e-2 Desmosterolosis Melanoma 1 1 DHCR24 (8) 0.00229 1.00000 2.825e-2 3.004e-2 dilated cardiomyopathy 1V Melanoma 1 1 PSEN2 (2) 0.00229 1.00000 2.825e-2 3.004e-2 Birk-landau-perez syndrome Neurotic disorder 1 1 SLC30A9 (3) 0.00229 1.00000 2.825e-2 3.004e-2 Autosomal recessive hypomyelinating leukodystrophy Melanoma 1 1 HIKESHI (4) 0.00229 1.00000 2.825e-2 3.004e-2 autosomal recessive optic atrophy, OPA7 type Melanoma 1 1 TMEM126A (2) 0.00229 1.00000 2.825e-2 3.004e-2 Congenital primary lymphedema of gordon Melanoma 1 1 VEGFC (3) 0.00229 1.00000 2.825e-2 3.004e-2 Cystathioninuria Melanoma 1 1 CTH (7) 0.00229 1.00000 2.825e-2 3.004e-2 Gastric cancer Sarcoglycanopathies 1 1 SGCG (2) 0.00455 0.50000 2.812e-2 2.994e-2 Cardiovascular disease Salt and pepper developmental regression syndrome 1 1 ST3GAL5 (2) 0.00231 1.00000 2.806e-2 2.988e-2 Cardiovascular disease Osteomalacia 1 1 MEPE (3) 0.00231 1.00000 2.806e-2 2.988e-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 2.988e-2 Cardiovascular disease GM3 synthase deficiency 1 1 ST3GAL5 (2) 0.00231 1.00000 2.806e-2 2.988e-2 Cardiovascular disease inherited blood coagulation disorder 1 1 APOLD1 (2) 0.00231 1.00000 2.806e-2 2.988e-2 Cardiovascular disease johanson-blizzard syndrome 1 1 UBR1 (2) 0.00231 1.00000 2.806e-2 2.988e-2 Cardiovascular disease hyperphosphatasia with intellectual disability syndrome 4 1 1 PGAP3 (2) 0.00231 1.00000 2.806e-2 2.988e-2 Cardiovascular disease primary ciliary dyskinesia 23 1 1 ODAD2 (2) 0.00231 1.00000 2.806e-2 2.988e-2 Cardiovascular disease Midline facial cleft 1 1 PCSK7 (2) 0.00231 1.00000 2.806e-2 2.988e-2 Cardiovascular disease Corneal degeneration 1 0 RDH8 (1) 0.00231 1.00000 2.806e-2 2.988e-2 3-hydroxyisobutyric aciduria Cardiovascular disease 1 1 HIBADH (3) 0.00231 1.00000 2.806e-2 2.988e-2 ALG9-associated autosomal dominant polycystic kidney disease Cardiovascular disease 1 1 ALG9 (2) 0.00231 1.00000 2.806e-2 2.988e-2 agammaglobulinemia 10, autosomal dominant Kidney disease 1 1 SPI1 (2) 0.00235 1.00000 2.760e-2 2.941e-2 Aica-ribosiduria Kidney disease 1 1 ATIC (2) 0.00235 1.00000 2.760e-2 2.941e-2 Deeah syndrome Kidney disease 1 1 MADD (4) 0.00235 1.00000 2.760e-2 2.941e-2 Arthrogryposis with neurodevelopmental impairment and seizures Kidney disease 1 1 SLC35A3 (4) 0.00235 1.00000 2.760e-2 2.941e-2 atypical hemolytic-uremic syndrome with DGKE deficiency Kidney disease 1 1 DGKE (2) 0.00235 1.00000 2.760e-2 2.941e-2 Beck-fahrner syndrome Kidney disease 1 1 TET3 (6) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease membranoproliferative glomerulonephritis 1 1 DGKE (2) 0.00235 1.00000 2.760e-2 2.941e-2 Intellectual developmental disorder dysmorphic facial hearing joint Kidney disease 1 1 TET3 (2) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease kidney disorder 1 1 SLC41A1 (3) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease nephronophthisis 7 1 1 GLIS2 (3) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease nephrotic syndrome, type 8 1 1 ARHGDIA (2) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease Neurooculocardio-genitourinary syndrome 1 1 WDR37 (6) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease RD3-related retinopathy 1 1 RD3 (2) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease renal-hepatic-pancreatic dysplasia 2 1 1 NEK8 (3) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease spinocerebellar ataxia, autosomal recessive 28 1 1 THG1L (3) 0.00235 1.00000 2.760e-2 2.941e-2 glycogen storage disease III Kidney disease 1 1 AGL (2) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease Peho-like syndrome 1 1 CCDC88A (5) 0.00235 1.00000 2.760e-2 2.941e-2 73 Kidney disease polycystic kidney disease 3 with or without polycystic liver disease 1 1 GANAB (2) 0.00235 1.00000 2.760e-2 2.941e-2 Kidney disease Transaldolase deficiency 1 1 TALDO1 (6) 0.00235 1.00000 2.760e-2 2.941e-2 Hyperlipidemia Salt-sensitive hypertension 1 0 ADD1 (1) 0.00694 0.33333 2.722e-2 2.903e-2 Renal cell carcinoma X-linked syndromic complex neurodevelopmental disorder 1 1 TFE3 (2) 0.00704 0.33333 2.684e-2 2.863e-2 3m syndrome Renal cell carcinoma 1 1 CUL7 (5) 0.00704 0.33333 2.684e-2 2.863e-2 16p13.2 microdeletion syndrome Androgenetic alopecia 1 1 USP7 (2) 0.00244 1.00000 2.650e-2 2.827e-2 Absence of fingerprints-congenital milia syndrome Androgenetic alopecia 1 0 SMARCAD1 (1) 0.00244 1.00000 2.650e-2 2.827e-2 amyotrophic lateral sclerosis type 15 Androgenetic alopecia 1 1 UBQLN2 (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia bamforth-lazarus syndrome 1 1 FOXE1 (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Combined oxidative phosphorylation defect 1 1 WARS2 (3) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Catifa syndrome 1 1 RIC1 (5) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 1 1 EDAR (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Weiss-kruszka syndrome 1 1 ZNF462 (5) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Retrograde amnesia 1 1 PREP (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Rhizomelic limb shortening with dysmorphic features 1 1 PKDCC (5) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia scalp-ear-nipple syndrome 1 1 KCTD1 (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Seizures, scoliosis, and macrocephaly/microcephaly syndrome 1 1 EXT2 (5) 0.00244 1.00000 2.650e-2 2.827e-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 2.827e-2 Androgenetic alopecia syndromic multisystem autoimmune disease due to ITCH deficiency 1 1 ITCH (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Intellectual developmental disorder growth metabolic 1 1 DIP2B (3) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia isovaleric acidemia 1 1 IVD (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia Perlman syndrome 1 1 DIS3L2 (5) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia hao-fountain syndrome 1 1 USP7 (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia hypomyelinating leukodystrophy 3 1 1 AIMP1 (2) 0.00244 1.00000 2.650e-2 2.827e-2 Androgenetic alopecia exostoses, multiple, type 2 1 1 EXT2 (2) 0.00244 1.00000 2.650e-2 2.827e-2 Migraine severe combined immunodeficiency due to DCLRE1C deficiency 1 1 DCLRE1C (2) 0.00247 1.00000 2.624e-2 2.802e-2 Migraine T-cell immunodeficiency 1 1 FOXI3 (2) 0.00247 1.00000 2.624e-2 2.802e-2 Migraine Trichilemmal cyst 1 1 BPIFC (3) 0.00247 1.00000 2.624e-2 2.802e-2 34 Migraine Weiss-kruszka syndrome 1 1 ZNF462 (5) 0.00247 1.00000 2.624e-2 2.802e-2 Migraine neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1 1 POLR2A (2) 0.00247 1.00000 2.624e-2 2.802e-2 Intellectual developmental disorder neuropsychiatric Migraine 1 1 SLC45A1 (4) 0.00247 1.00000 2.624e-2 2.802e-2 agammaglobulinemia 2, autosomal recessive Migraine 1 1 IGLL1 (2) 0.00247 1.00000 2.624e-2 2.802e-2 Catatonia Migraine 1 1 CHRM4 (3) 0.00247 1.00000 2.624e-2 2.802e-2 Deeah syndrome Migraine 1 1 MADD (4) 0.00247 1.00000 2.624e-2 2.802e-2 Candle syndrome Iga nephropathy 1 1 PSMB8 (2) 0.00488 0.50000 2.619e-2 2.798e-2 Intellectual developmental disorder dysmorphic ptosis Post-traumatic stress disorder 1 1 RPL10L (2) 0.00488 0.50000 2.619e-2 2.798e-2 Fructokinase deficiency Post-traumatic stress disorder 1 1 CGREF1 (2) 0.00488 0.50000 2.619e-2 2.798e-2 Cataract Congenital lamellar cataract 1 1 HSF4 (5) 0.00493 0.50000 2.594e-2 2.771e-2 51 Advanced sleep phase syndrome Irritable bowel syndrome 1 1 PER2 (4) 0.00730 0.33333 2.588e-2 2.766e-2 Intellectual developmental disorder dysmorphic facial Irritable bowel syndrome 1 1 SETD5 (2) 0.00730 0.33333 2.588e-2 2.766e-2 hypotaurinemic retinal degeneration and cardiomyopathy Myocardial ischemia 1 1 SLC6A6 (3) 0.00255 1.00000 2.539e-2 2.714e-2 inborn glycerol kinase deficiency Myocardial ischemia 1 1 GK (3) 0.00255 1.00000 2.539e-2 2.714e-2 Glycerol kinase deficiency Myocardial ischemia 1 1 GK (2) 0.00255 1.00000 2.539e-2 2.714e-2 long chain 3-hydroxyacyl-coa dehydrogenase deficiency Myocardial ischemia 1 1 HADHA (3) 0.00255 1.00000 2.539e-2 2.714e-2 methylmalonate semialdehyde dehydrogenase deficiency Myocardial ischemia 1 1 ALDH6A1 (3) 0.00255 1.00000 2.539e-2 2.714e-2 Myocardial ischemia RAB23-related Carpenter syndrome 1 1 RAB23 (2) 0.00255 1.00000 2.539e-2 2.714e-2 Myocardial ischemia neurodevelopmental disorder with microcephaly, ataxia, and seizures 1 1 SARS1 (2) 0.00255 1.00000 2.539e-2 2.714e-2 Hmg-coa synthase deficiency Myocardial ischemia 1 1 HMGCS2 (4) 0.00255 1.00000 2.539e-2 2.714e-2 Myocardial ischemia PGM1-congenital disorder of glycosylation 1 1 PGM1 (3) 0.00255 1.00000 2.539e-2 2.714e-2 Myocardial ischemia polyglucosan body myopathy type 2 1 1 GYG1 (3) 0.00255 1.00000 2.539e-2 2.714e-2 Developmental delay due to metabolic enzyme deficiency Myocardial ischemia 1 1 ALDH6A1 (3) 0.00255 1.00000 2.539e-2 2.714e-2 Cytosolic acetoacetyl-coa thiolase deficiency Myocardial ischemia 1 1 ACAT2 (2) 0.00255 1.00000 2.539e-2 2.714e-2 Contiguous abcd1-dxs1375e deletion syndrome Hearing loss 1 1 BCAP31 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Bilateral microtia with deafness and cleft palate syndrome Hearing loss 1 1 HOXA2 (4) 0.00258 1.00000 2.513e-2 2.688e-2 autosomal recessive nonsyndromic hearing loss 102 Hearing loss 1 1 EPS8 (2) 0.00258 1.00000 2.513e-2 2.688e-2 31 BBS2-related ciliopathy Hearing loss 1 1 BBS2 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Beta-hexosaminidase a deficiency Hearing loss 1 0 HEXA (1) 0.00258 1.00000 2.513e-2 2.688e-2 Congenital cerebellar hypoplasia Hearing loss 1 1 OXR1 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss Otofacial neurodevelopmental syndrome 1 1 ZSCAN10 (4) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss perrault syndrome 2 1 1 HARS2 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss PHARC syndrome 1 1 ABHD12 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss POLR1C-related disorder 1 1 POLR1C (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss purine nucleoside phosphorylase deficiency 1 1 PNP (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss Microtia 1 1 HOXA2 (3) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss thrombotic disease 1 1 MAST2 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss Worster drought syndrome 1 1 TMTC4 (2) 0.00258 1.00000 2.513e-2 2.688e-2 31 Hearing loss hearing loss, autosomal recessive 115 1 1 SPNS2 (4) 0.00258 1.00000 2.513e-2 2.688e-2 31 Hearing loss hearing loss, autosomal recessive 116 1 1 CLDN9 (4) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss hearing loss, autosomal recessive 120 1 1 MINAR2 (3) 0.00258 1.00000 2.513e-2 2.688e-2 31 Hearing loss HELIOS deficiency 1 1 IKZF2 (3) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 1 1 BCAP31 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss Sterol carrier protein 2 deficiency 1 1 SCP2 (4) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss neurodevelopmental disorder with severe motor impairment and absent language 1 1 DHX30 (2) 0.00258 1.00000 2.513e-2 2.688e-2 Hearing loss Osteootohepatoenteric syndrome 1 1 UNC45A (4) 0.00258 1.00000 2.513e-2 2.688e-2 Cerebral artery occlusion Esophageal squamous cell carcinoma 1 1 ADCYAP1 (2) 0.00758 0.33333 2.492e-2 2.668e-2 Celiac disease Degenerative polyarthritis 1 1 TLR8 (2) 0.00513 0.50000 2.491e-2 2.667e-2 Ochoa syndrome Peripheral neuropathy 1 1 HPSE2 (2) 0.00515 0.50000 2.478e-2 2.653e-2 Giant axonal neuropathy Peripheral neuropathy 1 1 GAN (7) 0.00515 0.50000 2.478e-2 2.653e-2 Peripheral neuropathy Trichotillomania 1 1 SLITRK1 (5) 0.00515 0.50000 2.478e-2 2.653e-2 Peripheral neuropathy Urofacial syndrome 1 1 HPSE2 (5) 0.00515 0.50000 2.478e-2 2.653e-2 Angiokeratoma Vascular dementia 1 0 KRIT1 (1) 0.00763 0.33333 2.473e-2 2.649e-2 Cerebral atherosclerosis Esophageal atresia 1 1 TENT5A (2) 0.02273 0.08333 2.466e-2 2.641e-2 Endometriosis neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1 1 POLR2A (2) 0.00265 1.00000 2.442e-2 2.615e-2 Endometriosis Parathyroid carcinoma 1 1 CDC73 (4) 0.00265 1.00000 2.442e-2 2.615e-2 Endometriosis Parathyroid neoplasm 1 1 CDC73 (3) 0.00265 1.00000 2.442e-2 2.615e-2 Endometriosis Genetic syndromic pierre robin syndrome 1 1 EFTUD2 (2) 0.00265 1.00000 2.442e-2 2.615e-2 Endometriosis hyperparathyroidism 2 with jaw tumors 1 1 CDC73 (2) 0.00265 1.00000 2.442e-2 2.615e-2 Carnitine palmitoyltransferase deficiency Vitiligo 1 1 CPT1A (7) 0.00775 0.33333 2.435e-2 2.608e-2 Congenital primary lymphedema of gordon Hypothyroidism 1 1 VEGFC (3) 0.00267 1.00000 2.429e-2 2.602e-2 Allan-herndon-dudley syndrome Hypothyroidism 1 1 SLC16A2 (4) 0.00267 1.00000 2.429e-2 2.602e-2 Helsmoortel-van der aa syndrome Hypothyroidism 1 1 ADNP (3) 0.00267 1.00000 2.429e-2 2.602e-2 Hypothyroidism Thrombocytopenia with anemia and myelofibrosis 1 1 MPIG6B (6) 0.00267 1.00000 2.429e-2 2.602e-2 Hypothyroidism Winkelman bethge pfeiffer syndrome 1 1 LHX3 (4) 0.00267 1.00000 2.429e-2 2.602e-2 Hypothyroidism Intellectual developmental disorder growth microcephaly 1 1 CTCF (2) 0.00267 1.00000 2.429e-2 2.602e-2 Hypothyroidism Midline facial cleft 1 1 PCSK7 (2) 0.00267 1.00000 2.429e-2 2.602e-2 47 Genetic transient congenital hypothyroidism Hypothyroidism 1 1 DUOX2 (3) 0.00267 1.00000 2.429e-2 2.602e-2 Focal dermal hypoplasia Global developmental delay 1 1 PORCN (7) 0.00270 1.00000 2.403e-2 2.575e-2 frontorhiny Open angle glaucoma 1 1 ALX3 (2) 0.00270 1.00000 2.396e-2 2.575e-2 Genetic syndromic pierre robin syndrome Global developmental delay 1 0 EFTUD2 (1) 0.00270 1.00000 2.403e-2 2.575e-2 Giant cell tumor of bone Global developmental delay 1 1 H3-3A (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay hypotonia, infantile, with psychomotor retardation and characteristic facies 2 1 1 UNC80 (2) 0.00270 1.00000 2.403e-2 2.575e-2 6 Global developmental delay immunodeficiency 78 with autoimmunity and developmental delay 1 1 TPP2 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Inflammatory demyelinating polyneuropathy Open angle glaucoma 1 0 CNBD1 (1) 0.00270 1.00000 2.396e-2 2.575e-2 Global developmental delay Intellectual developmental disorder dysmorphic hypotonia 1 1 KMT5B (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Intellectual developmental disorder dysmorphic ocular 1 1 MTSS2 (3) 0.00270 1.00000 2.403e-2 2.575e-2 6 Global developmental delay Intellectual developmental disorder growth behavioral 1 0 PPP2R5D (1) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Intellectual developmental disorder macrocephaly hypotonia behavioral 1 1 PPP2R5D (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Intellectual developmental disorder speech ambulation 1 1 ACTL6B (3) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Kidney atrophy 1 0 C12orf57 (1) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 1 1 IARS1 (4) 0.00270 1.00000 2.403e-2 2.575e-2 6 Global developmental delay hawkinsinuria 1 1 HPD (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay hearing loss, autosomal recessive 119 1 1 AFG2B (2) 0.00270 1.00000 2.403e-2 2.575e-2 hearing loss, autosomal recessive 120 Open angle glaucoma 1 1 MINAR2 (2) 0.00270 1.00000 2.396e-2 2.575e-2 Global developmental delay Helsmoortel-van der aa syndrome 1 1 ADNP (3) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Hemiparkinsonism hemiatrophy syndrome 1 0 H3-3B (1) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Hoxha-aliu syndrome 1 1 ERI1 (3) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay neurodegeneration, childhood-onset, with cerebellar atrophy 1 1 AGTPBP1 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay neurodegenerative disease 1 1 IRF2BPL (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay neurodevelopmental disorder with hypotonia, neuropathy, and deafness 1 1 SPTBN4 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 1 MAPK8IP3 (2) 0.00270 1.00000 2.403e-2 2.575e-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 2.575e-2 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus Open angle glaucoma 1 1 TNR (2) 0.00270 1.00000 2.396e-2 2.575e-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 2.575e-2 Global developmental delay thrombocytopenia-absent radius syndrome 1 1 RBM8A (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay X-linked hereditary motor and sensory neuropathy 1 0 DRP2 (1) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay X-linked intellectual disability, Cabezas type 1 1 CUL4B (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Xia-gibbs syndrome 1 1 AHDC1 (3) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Malan syndrome 1 1 NFIX (6) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay marshall-smith syndrome 1 1 NFIX (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay MGAT2-congenital disorder of glycosylation 1 1 MGAT2 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Regressive neurodevelopmental disorder dystonia seizures 1 0 IRF2BPL (1) 0.00270 1.00000 2.403e-2 2.575e-2 Open angle glaucoma Rothmund-Thomson syndrome type 1 1 1 ANAPC1 (2) 0.00270 1.00000 2.396e-2 2.575e-2 Global developmental delay schuurs-hoeijmakers syndrome 1 1 PACS1 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay seckel syndrome 10 1 1 NSMCE2 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Sensorineural hearing loss-spastic quadriplegia–intellectual disability 1 1 AFG2B (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 1 1 BCAP31 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Shukla-vernon syndrome 1 1 BCORL1 (4) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay SMARCC1-associated developmental dysgenesis syndrome 1 1 SMARCC1 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Global developmental delay Otofacial neurodevelopmental syndrome 1 1 ZSCAN10 (4) 0.00270 1.00000 2.403e-2 2.575e-2 6 Global developmental delay Parenti-mignot neurodevelopmental syndrome 1 1 CHD5 (4) 0.00270 1.00000 2.403e-2 2.575e-2 19p13.3 microduplication syndrome Global developmental delay 1 1 NFIX (2) 0.00270 1.00000 2.403e-2 2.575e-2 agammaglobulinemia 10, autosomal dominant Open angle glaucoma 1 1 SPI1 (2) 0.00270 1.00000 2.396e-2 2.575e-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 2.575e-2 Al kaissi syndrome Global developmental delay 1 1 CDK10 (2) 0.00270 1.00000 2.403e-2 2.575e-2 6 Alazami-yuan syndrome Global developmental delay 1 0 TAF6 (1) 0.00270 1.00000 2.403e-2 2.575e-2 amyotrophic lateral sclerosis type 23 Open angle glaucoma 1 1 ANXA11 (2) 0.00270 1.00000 2.396e-2 2.575e-2 Contiguous abcd1-dxs1375e deletion syndrome Global developmental delay 1 1 BCAP31 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Cutis marmorata Global developmental delay 1 0 TPP2 (1) 0.00270 1.00000 2.403e-2 2.575e-2 Deeah syndrome Open angle glaucoma 1 1 MADD (4) 0.00270 1.00000 2.396e-2 2.575e-2 Chondroblastoma Global developmental delay 1 1 H3-3B (2) 0.00270 1.00000 2.403e-2 2.575e-2 Cleft palate proliferative retinopathy developmental delay Global developmental delay 1 1 LRRC32 (3) 0.00270 1.00000 2.403e-2 2.575e-2 Brainstem dysplasia Global developmental delay 1 0 SMG9 (1) 0.00270 1.00000 2.403e-2 2.575e-2 6 Combined malonic and methylmalonic acidemia Global developmental delay 1 1 ACSF3 (5) 0.00270 1.00000 2.403e-2 2.575e-2 Combined malonic and methylmalonic aciduria Global developmental delay 1 1 ACSF3 (3) 0.00270 1.00000 2.403e-2 2.575e-2 Congenital heart defect, intellectual disability, facial dysmorphism syndrome Global developmental delay 1 0 CDK13 (1) 0.00270 1.00000 2.403e-2 2.575e-2 developmental and epileptic encephalopathy, 77 Global developmental delay 1 1 PIGQ (2) 0.00270 1.00000 2.403e-2 2.575e-2 Developmental delay with behavioral abnormalities Global developmental delay 1 1 ADGRL1 (4) 0.00270 1.00000 2.403e-2 2.575e-2 autosomal recessive spinocerebellar ataxia 20 Global developmental delay 1 1 SNX14 (2) 0.00270 1.00000 2.403e-2 2.575e-2 Bafopathy Global developmental delay 1 1 ACTL6A (3) 0.00270 1.00000 2.403e-2 2.575e-2 basilicata-akhtar syndrome Global developmental delay 1 1 MSL3 (2) 0.00270 1.00000 2.403e-2 2.575e-2 6 Beta-hexosaminidase a deficiency Global developmental delay 1 0 HEXA (1) 0.00270 1.00000 2.403e-2 2.575e-2 Bafopathy Non-specific syndromic intellectual disability 1 1 ACTL6A (4) 0.00271 1.00000 2.390e-2 2.570e-2 Chopra-amiel-gordon syndrome Non-specific syndromic intellectual disability 1 1 ANKRD17 (5) 0.00271 1.00000 2.390e-2 2.570e-2 Chromosome 1q deletion syndrome Non-specific syndromic intellectual disability 1 1 ZBTB18 (2) 0.00271 1.00000 2.390e-2 2.570e-2 Chromosome 1q43-q44 deletion syndrome Non-specific syndromic intellectual disability 1 0 ZBTB18 (1) 0.00271 1.00000 2.390e-2 2.570e-2 Clark-baraitser syndrome Non-specific syndromic intellectual disability 1 1 TRIP12 (4) 0.00271 1.00000 2.390e-2 2.570e-2 6 1q44 microdeletion syndrome Non-specific syndromic intellectual disability 1 1 HNRNPU (2) 0.00271 1.00000 2.390e-2 2.570e-2 6 CTR9-related neurodevelopmental disorder Non-specific syndromic intellectual disability 1 1 CTR9 (3) 0.00271 1.00000 2.390e-2 2.570e-2 Deeah syndrome Non-specific syndromic intellectual disability 1 1 MADD (4) 0.00271 1.00000 2.390e-2 2.570e-2 Degcags syndrome Non-specific syndromic intellectual disability 1 1 ZNF699 (4) 0.00271 1.00000 2.390e-2 2.570e-2 Dentici novelli neurodevelopmental syndrome Non-specific syndromic intellectual disability 1 1 ZNF526 (4) 0.00271 1.00000 2.390e-2 2.570e-2 Developmental delay with behavioral abnormalities Non-specific syndromic intellectual disability 1 1 ADGRL1 (5) 0.00271 1.00000 2.390e-2 2.570e-2 Developmental delay with hypotonia and behavioral abnormalities Non-specific syndromic intellectual disability 1 1 SRCAP (5) 0.00271 1.00000 2.390e-2 2.570e-2 Developmental delay with variable neurological abnormalities Non-specific syndromic intellectual disability 1 1 LMBRD2 (5) 0.00271 1.00000 2.390e-2 2.570e-2 Dworschak-punetha neurodevelopmental syndrome Non-specific syndromic intellectual disability 1 1 PLXNA1 (4) 0.00271 1.00000 2.390e-2 2.570e-2 6 Brunet-wagner neurodevelopmental syndrome Non-specific syndromic intellectual disability 1 1 RBL2 (4) 0.00271 1.00000 2.390e-2 2.570e-2 Cardiofacio-neurodevelopmental syndrome Non-specific syndromic intellectual disability 1 1 CCDC32 (5) 0.00271 1.00000 2.390e-2 2.570e-2 Congenital corneal opacity Non-specific syndromic intellectual disability 1 0 ZFHX4 (1) 0.00271 1.00000 2.390e-2 2.570e-2 Non-specific syndromic intellectual disability Parenti-mignot neurodevelopmental syndrome 1 1 CHD5 (5) 0.00271 1.00000 2.390e-2 2.570e-2 Non-specific syndromic intellectual disability PIP5K1C-related neurodevelopmental disorder 1 1 PIP5K1C (2) 0.00271 1.00000 2.390e-2 2.570e-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 2.570e-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 2.570e-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 2.570e-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 2.570e-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 2.570e-2 6 Intellectual developmental disorder behavioral short stature Non-specific syndromic intellectual disability 1 1 PUS7 (5) 0.00271 1.00000 2.390e-2 2.570e-2 6 Intellectual developmental disorder dysmorphic Non-specific syndromic intellectual disability 1 1 POU3F3 (2) 0.00271 1.00000 2.390e-2 2.570e-2 6 Intellectual developmental disorder dysmorphic hypotonia Non-specific syndromic intellectual disability 1 1 KMT5B (2) 0.00271 1.00000 2.390e-2 2.570e-2 Intellectual developmental disorder growth behavioral Non-specific syndromic intellectual disability 1 0 PPP2R5D (1) 0.00271 1.00000 2.390e-2 2.570e-2 Intellectual developmental disorder macrocephaly hypotonia behavioral Non-specific syndromic intellectual disability 1 1 PPP2R5D (2) 0.00271 1.00000 2.390e-2 2.570e-2 Intellectual developmental disorder peripheral neuropathy Non-specific syndromic intellectual disability 1 1 NUDT2 (5) 0.00271 1.00000 2.390e-2 2.570e-2 6 Intellectual developmental disorder seizures epilepsy Non-specific syndromic intellectual disability 1 1 AP2M1 (3) 0.00271 1.00000 2.390e-2 2.570e-2 Intellectual developmental disorder seizures language Non-specific syndromic intellectual disability 1 1 SETD1B (3) 0.00271 1.00000 2.390e-2 2.570e-2 Intellectual developmental disorder speech ambulation Non-specific syndromic intellectual disability 1 1 ACTL6B (4) 0.00271 1.00000 2.390e-2 2.570e-2 intellectual developmental disorder, autosomal dominant 65 Non-specific syndromic intellectual disability 1 1 KDM4B (3) 0.00271 1.00000 2.390e-2 2.570e-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 2.570e-2 floating-harbor syndrome Non-specific syndromic intellectual disability 1 1 SRCAP (3) 0.00271 1.00000 2.390e-2 2.570e-2 hereditary fructose intolerance Non-specific syndromic intellectual disability 1 1 ALDOB (2) 0.00271 1.00000 2.390e-2 2.570e-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 2.570e-2 holoprosencephaly 12 with or without pancreatic agenesis Non-specific syndromic intellectual disability 1 1 CNOT1 (3) 0.00271 1.00000 2.390e-2 2.570e-2 Non-specific syndromic intellectual disability radio-tartaglia syndrome 1 1 SPEN (2) 0.00271 1.00000 2.390e-2 2.570e-2 Non-specific syndromic intellectual disability Shukla-vernon syndrome 1 1 BCORL1 (5) 0.00271 1.00000 2.390e-2 2.570e-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 2.570e-2 Non-specific syndromic intellectual disability stankiewicz-isidor syndrome 1 1 PSMD12 (3) 0.00271 1.00000 2.390e-2 2.570e-2 Non-specific syndromic intellectual disability SYNCRIP-related neurodevelopmental disorder 1 1 SYNCRIP (3) 0.00271 1.00000 2.390e-2 2.570e-2 Non-specific syndromic intellectual disability Usmani-riazuddin syndrome 1 1 AP1G1 (5) 0.00271 1.00000 2.390e-2 2.570e-2 6 multiple congenital anomalies-neurodevelopmental syndrome, x-linked Non-specific syndromic intellectual disability 1 1 OTUD5 (3) 0.00271 1.00000 2.390e-2 2.570e-2 Eczema NIK deficiency 1 1 MAP3K14 (2) 0.00273 1.00000 2.370e-2 2.555e-2 Eczema Prader-willi-like syndrome 1 1 CPE (2) 0.00273 1.00000 2.370e-2 2.555e-2 Eczema Intellectual developmental disorder neuropsychiatric 1 1 SLC45A1 (4) 0.00273 1.00000 2.370e-2 2.555e-2 14 Eczema Juvenile absence epilepsy 1 1 EFHC1 (2) 0.00273 1.00000 2.370e-2 2.555e-2 Eczema KCND2-related neurodevelopmental disorder with or without seizures 1 1 KCND2 (2) 0.00273 1.00000 2.370e-2 2.555e-2 Eczema Xy gonadal dysgenesis syndrome 1 1 PPP2R3C (2) 0.00273 1.00000 2.370e-2 2.555e-2 Eczema RCBTB1-related retinopathy 1 1 RCBTB1 (2) 0.00273 1.00000 2.370e-2 2.555e-2 Eczema severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 1 GATAD2B (2) 0.00273 1.00000 2.370e-2 2.555e-2 Congenital microtia Eczema 1 1 PRKRA (3) 0.00273 1.00000 2.370e-2 2.555e-2 Cleft palate proliferative retinopathy developmental delay Eczema 1 1 LRRC32 (4) 0.00273 1.00000 2.370e-2 2.555e-2 Biotinidase deficiency Eczema 1 1 BTD (8) 0.00273 1.00000 2.370e-2 2.555e-2 Birbeck granule deficiency Eczema 1 1 CD207 (4) 0.00273 1.00000 2.370e-2 2.555e-2 Auditory neuropathy with optic atrophy Optic atrophy 1 1 FDXR (5) 0.00546 0.50000 2.337e-2 2.521e-2 Brody myopathy Congestive heart failure 1 1 ATP2A1 (6) 0.00552 0.50000 2.312e-2 2.494e-2 Butyryl-coa dehydrogenase deficiency Congestive heart failure 1 1 ACADS (2) 0.00552 0.50000 2.312e-2 2.494e-2 Congestive heart failure Lewis lung carcinoma 1 1 TXNRD1 (2) 0.00552 0.50000 2.312e-2 2.494e-2 LZTFL1-related ciliopathy Retinitis pigmentosa 1 1 LZTFL1 (2) 0.00280 1.00000 2.312e-2 2.494e-2 Mak-related retinopathy Retinitis pigmentosa 1 1 MAK (7) 0.00280 1.00000 2.312e-2 2.494e-2 microcephaly and chorioretinopathy 1 Retinitis pigmentosa 1 1 TUBGCP6 (2) 0.00280 1.00000 2.312e-2 2.494e-2 mucopolysaccharidosis type 3C Retinitis pigmentosa 1 1 HGSNAT (6) 0.00280 1.00000 2.312e-2 2.494e-2 RAB28-related retinopathy Retinitis pigmentosa 1 1 RAB28 (3) 0.00280 1.00000 2.312e-2 2.494e-2 7 RCBTB1-related retinopathy Retinitis pigmentosa 1 1 RCBTB1 (3) 0.00280 1.00000 2.312e-2 2.494e-2 RD3-related retinopathy Retinitis pigmentosa 1 1 RD3 (2) 0.00280 1.00000 2.312e-2 2.494e-2 Retinitis pigmentosa retinitis pigmentosa 18 1 1 PRPF3 (7) 0.00280 1.00000 2.312e-2 2.494e-2 Retinitis pigmentosa retinitis pigmentosa 27 1 1 NRL (7) 0.00280 1.00000 2.312e-2 2.494e-2 7 Retinitis pigmentosa retinitis pigmentosa 86 1 1 KIAA1549 (7) 0.00280 1.00000 2.312e-2 2.494e-2 7 Retinitis pigmentosa retinitis pigmentosa 9 1 1 RP9 (6) 0.00280 1.00000 2.312e-2 2.494e-2 7 Retinitis pigmentosa Retinitis pigmentosa and erythrocytic microcytosis 1 1 TRNT1 (5) 0.00280 1.00000 2.312e-2 2.494e-2 Retinitis pigmentosa Retinitis pigmentosa with or without situs inversus 1 1 ARL2BP (6) 0.00280 1.00000 2.312e-2 2.494e-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 2.494e-2 Retinitis pigmentosa Sideroblastic anemia with b-cell immunodeficiency 1 1 TRNT1 (6) 0.00280 1.00000 2.312e-2 2.494e-2 Retinitis pigmentosa snowflake vitreoretinal degeneration 1 1 KCNJ13 (3) 0.00280 1.00000 2.312e-2 2.494e-2 Retinitis pigmentosa SNRNP200-related dominant retinopathy 1 1 SNRNP200 (8) 0.00280 1.00000 2.312e-2 2.494e-2 7 Retinitis pigmentosa spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 1 1 PCYT1A (2) 0.00280 1.00000 2.312e-2 2.494e-2 Retinitis pigmentosa SRD5A3-congenital disorder of glycosylation 1 1 SRD5A3 (2) 0.00280 1.00000 2.312e-2 2.494e-2 PCARE-related retinopathy Retinitis pigmentosa 1 1 PCARE (7) 0.00280 1.00000 2.312e-2 2.494e-2 7 PDE6A-related retinopathy Retinitis pigmentosa 1 1 PDE6A (7) 0.00280 1.00000 2.312e-2 2.494e-2 PDE6G-related retinopathy Retinitis pigmentosa 1 1 PDE6G (6) 0.00280 1.00000 2.312e-2 2.494e-2 7 PHARC syndrome Retinitis pigmentosa 1 1 ABHD12 (2) 0.00280 1.00000 2.312e-2 2.494e-2 7 phytanoyl-CoA hydroxylase deficiency Retinitis pigmentosa 1 1 PHYH (3) 0.00280 1.00000 2.312e-2 2.494e-2 PRPF31-related retinopathy Retinitis pigmentosa 1 1 PRPF31 (7) 0.00280 1.00000 2.312e-2 2.494e-2 7 Familial danish dementia Retinitis pigmentosa 1 1 ITM2B (2) 0.00280 1.00000 2.312e-2 2.494e-2 GNAT2-related retinopathy Retinitis pigmentosa 1 1 GNAT2 (2) 0.00280 1.00000 2.312e-2 2.494e-2 GNPTG-mucolipidosis Retinitis pigmentosa 1 1 GNPTG (2) 0.00280 1.00000 2.312e-2 2.494e-2 GPR179-related retinopathy Retinitis pigmentosa 1 1 GPR179 (3) 0.00280 1.00000 2.312e-2 2.494e-2 Neovascular inflammatory vitreoretinopathy Retinitis pigmentosa 1 1 CAPN5 (4) 0.00280 1.00000 2.312e-2 2.494e-2 NYX-related retinopathy Retinitis pigmentosa 1 1 NYX (3) 0.00280 1.00000 2.312e-2 2.494e-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 2.494e-2 optic atrophy 3 Retinitis pigmentosa 1 1 OPA3 (2) 0.00280 1.00000 2.312e-2 2.494e-2 optic atrophy 9 Retinitis pigmentosa 1 1 ACO2 (2) 0.00280 1.00000 2.312e-2 2.494e-2 ornithine aminotransferase deficiency Retinitis pigmentosa 1 1 OAT (2) 0.00280 1.00000 2.312e-2 2.494e-2 7 Retinitis pigmentosa Tritanopia 1 1 OPN1SW (3) 0.00280 1.00000 2.312e-2 2.494e-2 Retinitis pigmentosa TUBB4B-related ciliopathy 1 1 TUBB4B (2) 0.00280 1.00000 2.312e-2 2.494e-2 7 Retinitis pigmentosa Usher syndrome type 3 1 1 CLRN1 (7) 0.00280 1.00000 2.312e-2 2.494e-2 IDH3B-related retinopathy Retinitis pigmentosa 1 1 IDH3B (7) 0.00280 1.00000 2.312e-2 2.494e-2 7 IMPDH1-related retinopathy Retinitis pigmentosa 1 1 IMPDH1 (7) 0.00280 1.00000 2.312e-2 2.494e-2 IMPG2-related recessive retinopathy Retinitis pigmentosa 1 1 IMPG2 (6) 0.00280 1.00000 2.312e-2 2.494e-2 jalili syndrome Retinitis pigmentosa 1 1 CNNM4 (3) 0.00280 1.00000 2.312e-2 2.494e-2 Bosch-boonstra-schaaf optic atrophy syndrome Retinitis pigmentosa 1 1 NR2F1 (5) 0.00280 1.00000 2.312e-2 2.494e-2 CACNA2D4-related retinopathy Retinitis pigmentosa 1 1 CACNA2D4 (3) 0.00280 1.00000 2.312e-2 2.494e-2 autosomal recessive optic atrophy, OPA7 type Retinitis pigmentosa 1 1 TMEM126A (2) 0.00280 1.00000 2.312e-2 2.494e-2 7 BBS1-related ciliopathy Retinitis pigmentosa 1 1 BBS1 (4) 0.00280 1.00000 2.312e-2 2.494e-2 BBS2-related ciliopathy Retinitis pigmentosa 1 1 BBS2 (7) 0.00280 1.00000 2.312e-2 2.494e-2 BBS4-related ciliopathy Retinitis pigmentosa 1 1 BBS4 (3) 0.00280 1.00000 2.312e-2 2.494e-2 BBS5-related ciliopathy Retinitis pigmentosa 1 1 BBS5 (2) 0.00280 1.00000 2.312e-2 2.494e-2 7 BBS7-related ciliopathy Retinitis pigmentosa 1 1 BBS7 (3) 0.00280 1.00000 2.312e-2 2.494e-2 Benign flecked retina Retinitis pigmentosa 1 1 PLA2G5 (5) 0.00280 1.00000 2.312e-2 2.494e-2 Abri amyloidosis Retinitis pigmentosa 1 1 ITM2B (2) 0.00280 1.00000 2.312e-2 2.494e-2 Acyl-coa binding domain containing protein 5 deficiency Retinitis pigmentosa 1 1 ACBD5 (3) 0.00280 1.00000 2.312e-2 2.494e-2 ADAM9-related retinopathy Retinitis pigmentosa 1 1 ADAM9 (3) 0.00280 1.00000 2.312e-2 2.494e-2 Alzahrani-kuwahara syndrome Retinitis pigmentosa 1 1 SMG8 (3) 0.00280 1.00000 2.312e-2 2.494e-2 7 Amaurosis hypertrichosis Retinitis pigmentosa 1 1 CNNM4 (2) 0.00280 1.00000 2.312e-2 2.494e-2 CEP164-related ciliopathy Retinitis pigmentosa 1 1 CEP164 (2) 0.00280 1.00000 2.312e-2 2.494e-2 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism Retinitis pigmentosa 1 1 PRDM13 (5) 0.00280 1.00000 2.312e-2 2.494e-2 CNGB1-related retinopathy Retinitis pigmentosa 1 1 CNGB1 (7) 0.00280 1.00000 2.312e-2 2.494e-2 Costeff optic atrophy syndrome Retinitis pigmentosa 1 0 OPA3 (1) 0.00280 1.00000 2.312e-2 2.494e-2 Deafness dystonia syndrome Retinitis pigmentosa 1 1 TIMM8A (4) 0.00280 1.00000 2.312e-2 2.494e-2 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Retinitis pigmentosa 1 1 PDSS1 (4) 0.00280 1.00000 2.312e-2 2.494e-2 Developmental delay and seizures Retinitis pigmentosa 1 1 DHDDS (6) 0.00280 1.00000 2.312e-2 2.494e-2 DHDDS-CDG Retinitis pigmentosa 1 1 DHDDS (7) 0.00280 1.00000 2.312e-2 2.494e-2 Atherosclerosis Salt-sensitive hypertension 1 0 ADD1 (1) 0.00820 0.33333 2.301e-2 2.490e-2 Biliary tract cancer Paraquat lung disease 1 1 SMAD7 (3) 0.00826 0.33333 2.282e-2 2.470e-2 Biliary tract cancer Uncombable hair syndrome 1 1 TGM3 (6) 0.00826 0.33333 2.282e-2 2.470e-2 Carnitine palmitoyltransferase deficiency Congenital neurologic anomalies 1 1 CPT2 (8) 0.00847 0.33333 2.224e-2 2.407e-2 Brain cancer Non-organic psychosis 1 1 APOBEC3C (2) 0.01351 0.20000 2.221e-2 2.404e-2 Glycine encephalopathy Non-organic psychosis 1 1 SLC6A9 (7) 0.01351 0.20000 2.221e-2 2.404e-2 Oculopharyngodistal myopathy Urolithiasis 1 1 GIPC1 (5) 0.01351 0.20000 2.221e-2 2.404e-2 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction Venous thromboembolism 1 1 GEMIN5 (2) 0.00292 1.00000 2.221e-2 2.404e-2 Upshaw-schulman syndrome Venous thromboembolism 1 1 ADAMTS13 (2) 0.00292 1.00000 2.221e-2 2.404e-2 Venous thromboembolism xeroderma pigmentosum group E 1 1 DDB2 (2) 0.00292 1.00000 2.221e-2 2.404e-2 syndromic multisystem autoimmune disease due to ITCH deficiency Venous thromboembolism 1 1 ITCH (2) 0.00292 1.00000 2.221e-2 2.404e-2 Intellectual developmental disorder growth metabolic Venous thromboembolism 1 1 DIP2B (3) 0.00292 1.00000 2.221e-2 2.404e-2 34 Focal dystonia Venous thromboembolism 1 1 GNAL (3) 0.00292 1.00000 2.221e-2 2.404e-2 Branchioskeletogenital syndrome Venous thromboembolism 1 1 CDH11 (3) 0.00292 1.00000 2.221e-2 2.404e-2 Developmental delay with overweight and facial dysmorphism Venous thromboembolism 1 1 SRRM2 (3) 0.00292 1.00000 2.221e-2 2.404e-2 Axonal neuropathy with neuromyotonia Venous thromboembolism 1 1 HINT1 (4) 0.00292 1.00000 2.221e-2 2.404e-2 Curly hair ankyloblepharon nail dysplasia syndrome Venous thromboembolism 1 1 RIPK4 (3) 0.00292 1.00000 2.221e-2 2.404e-2 A4GALT-congenital disorder of glycosylation Venous thromboembolism 1 1 A4GALT (2) 0.00292 1.00000 2.221e-2 2.404e-2 agammaglobulinemia 10, autosomal dominant Venous thromboembolism 1 1 SPI1 (2) 0.00292 1.00000 2.221e-2 2.404e-2 Catifa syndrome Venous thromboembolism 1 1 RIC1 (5) 0.00292 1.00000 2.221e-2 2.404e-2 Carnitine palmitoyltransferase deficiency Myopathy 1 1 CPT2 (8) 0.00870 0.33333 2.166e-2 2.347e-2 multiple acyl-CoA dehydrogenase deficiency Myopathy 1 1 ETFDH (2) 0.00870 0.33333 2.166e-2 2.347e-2 Cerebral atherosclerosis Oral cavity carcinoma 1 0 ZDHHC21 (1) 0.02500 0.08333 2.161e-2 2.342e-2 Central vertigo Meniere disease 1 1 OTOGL (2) 0.01389 0.20000 2.157e-2 2.337e-2 Meniere disease Peripheral vertigo 1 1 OTOGL (2) 0.01389 0.20000 2.157e-2 2.337e-2 Amyotrophic lateral sclerosis frontotemporal dementia and/or amyotrophic lateral sclerosis 1 1 GRN (2) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis frontotemporal dementia and/or amyotrophic lateral sclerosis 2 1 1 CHCHD10 (4) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis frontotemporal dementia and/or amyotrophic lateral sclerosis 7 1 1 CHMP2B (6) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis neuropathy, hereditary sensory and autonomic, type 1A 1 1 SPTLC1 (6) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis neuropathy, hereditary sensory and autonomic, type 1C 1 1 SPTLC2 (3) 0.00300 1.00000 2.156e-2 2.337e-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 2.337e-2 Amyotrophic lateral sclerosis T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 1 JAK3 (3) 0.00300 1.00000 2.156e-2 2.337e-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 2.337e-2 13 Amyotrophic lateral sclerosis Vertical talus 1 1 HOXD10 (3) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Xerosis with immune and pulmonary dysfunction syndrome 1 1 DBR1 (5) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Xgip syndrome 1 1 DBR1 (2) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis hereditary spastic paraplegia 11 1 1 SPG11 (8) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis hereditary spastic paraplegia 62 1 1 ERLIN1 (2) 0.00300 1.00000 2.156e-2 2.337e-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 2.337e-2 Amyotrophic lateral sclerosis Intellectual developmental disorder dysmorphic skeletal 1 1 CNOT2 (4) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Intellectual developmental disorder dysmorphic speech skeletal 1 1 CNOT2 (2) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Intellectual developmental disorder speech ambulation 1 1 ACTL6B (4) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis ciliary dyskinesia, primary, 46 1 1 STK36 (2) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Congenital arthrogryposis with anterior horn cell disease 1 1 GLE1 (5) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis distal myopathy with vocal cord weakness 1 1 MATR3 (6) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Dworschak-punetha neurodevelopmental syndrome 1 1 PLXNA1 (5) 0.00300 1.00000 2.156e-2 2.337e-2 12q15q21 microdeletion syndrome Amyotrophic lateral sclerosis 1 1 CNOT2 (3) 0.00300 1.00000 2.156e-2 2.337e-2 3-hydroxyacyl-coa dehydrogenase deficiency Amyotrophic lateral sclerosis 1 1 HADH (3) 0.00300 1.00000 2.156e-2 2.337e-2 Adult-onset proximal spinal muscular atrophy Amyotrophic lateral sclerosis 1 1 VAPB (7) 0.00300 1.00000 2.156e-2 2.337e-2 ALS2-related motor neuron disease Amyotrophic lateral sclerosis 1 1 ALS2 (8) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 1 1 TIA1 (5) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 15 1 1 UBQLN2 (7) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 18 1 1 PFN1 (7) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 23 1 1 ANXA11 (6) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 8 1 1 VAPB (7) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis amyotrophic lateral sclerosis type 9 1 1 ANG (8) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Arthrogryposis with anterior horn cell disease 1 1 GLE1 (4) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Bilateral congenital vertical talus 1 1 HOXD10 (2) 0.00300 1.00000 2.156e-2 2.337e-2 Amyotrophic lateral sclerosis Copper metabolism disorder 1 0 CCS (1) 0.00300 1.00000 2.156e-2 2.337e-2 Cystinosis Nephrotic syndrome 1 1 CTNS (6) 0.00595 0.50000 2.145e-2 2.328e-2 Basal cell carcinoma Developmental delay with hypotonia and impaired language 1 1 FBXW7 (5) 0.00305 1.00000 2.124e-2 2.306e-2 Basal cell carcinoma Enteropathy 1 1 SLCO2A1 (3) 0.00305 1.00000 2.124e-2 2.306e-2 Anterior maxillary protrusion-strabismus-intellectual disability syndrome Basal cell carcinoma 1 1 SOBP (3) 0.00305 1.00000 2.124e-2 2.306e-2 Basal cell carcinoma Intellectual disability, anterior maxillary protrusion, and strabismus 1 1 SOBP (3) 0.00305 1.00000 2.124e-2 2.306e-2 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 2.306e-2 16 Basal cell carcinoma RAB28-related retinopathy 1 1 RAB28 (2) 0.00305 1.00000 2.124e-2 2.306e-2 Basal cell carcinoma histidinemia 1 1 HAL (2) 0.00305 1.00000 2.124e-2 2.306e-2 16 Basal cell carcinoma xeroderma pigmentosum group A 1 1 XPA (2) 0.00305 1.00000 2.124e-2 2.306e-2 Diabetic retinopathy Thyroid hemiagenesis 1 1 VPS13C (2) 0.00602 0.50000 2.119e-2 2.301e-2 Male infertility round headed spermatozoa Rolandic epilepsy 1 1 DPY19L2 (2) 0.01852 0.14286 2.118e-2 2.300e-2 PRPF8-related retinopathy Stroke 1 1 PRPF8 (3) 0.00309 1.00000 2.098e-2 2.279e-2 hermansky-pudlak syndrome 4 Stroke 1 1 HPS4 (2) 0.00309 1.00000 2.098e-2 2.279e-2 snijders blok-campeau syndrome Stroke 1 1 CHD3 (2) 0.00309 1.00000 2.098e-2 2.279e-2 congenital disorder of glycosylation with defective fucosylation 1 Stroke 1 1 FUT8 (2) 0.00309 1.00000 2.098e-2 2.279e-2 Generalized epilepsy Glycine encephalopathy 1 1 GLDC (7) 0.01429 0.20000 2.093e-2 2.274e-2 Kidney cancer Very long chain acyl-coa dehydrogenase deficiency 1 1 DLG4 (2) 0.01176 0.25000 2.088e-2 2.268e-2 Atelis syndrome Upper aerodigestive tract neoplasm 1 1 SMC5 (4) 0.00613 0.50000 2.080e-2 2.260e-2 Alzheimer disease Developmental delay with language and ocular abnormalities 2 2 ARPC4 (4), ARPC4-TTLL3 (2) 0.00090 1.00000 2.074e-2 2.254e-2 2 Leigh syndrome Lipoyltransferase deficiency 1 1 LIPT1 (7) 0.00909 0.33333 2.070e-2 2.250e-2 methylmalonic aciduria and homocystinuria type cblF Nonalcoholic fatty liver disease 1 1 LMBRD1 (2) 0.00315 1.00000 2.052e-2 2.230e-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 2.230e-2 hereditary spastic paraplegia 62 Nonalcoholic fatty liver disease 1 1 ERLIN1 (2) 0.00315 1.00000 2.052e-2 2.230e-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 2.230e-2 Anaphylatoxin inactivator deficiency Nonalcoholic fatty liver disease 1 1 CPN1 (2) 0.00315 1.00000 2.052e-2 2.230e-2 Carboxypeptidase n deficiency Nonalcoholic fatty liver disease 1 1 CPN1 (4) 0.00315 1.00000 2.052e-2 2.230e-2 autosomal recessive cerebellar ataxia Nonalcoholic fatty liver disease 1 1 CWF19L1 (2) 0.00315 1.00000 2.052e-2 2.230e-2 Ankylosing spondylitis Autoinflammation and autoimmunity, systemic, with immune dysregulation 1 1 1 COPA (2) 0.00318 1.00000 2.033e-2 2.210e-2 Ankylosing spondylitis Autoinflammation with pulmonary and cutaneous vasculitis 1 1 HCK (4) 0.00318 1.00000 2.033e-2 2.210e-2 Ankylosing spondylitis El-hayek-chahrour neurodevelopmental syndrome 1 1 KDM5A (4) 0.00318 1.00000 2.033e-2 2.210e-2 Ankylosing spondylitis combined immunodeficiency due to OX40 deficiency 1 1 TNFRSF4 (2) 0.00318 1.00000 2.033e-2 2.210e-2 Ankylosing spondylitis Xy gonadal dysgenesis syndrome 1 1 PPP2R3C (2) 0.00318 1.00000 2.033e-2 2.210e-2 Ankylosing spondylitis scott syndrome 1 1 ANO6 (3) 0.00318 1.00000 2.033e-2 2.210e-2 Behcet disease Interferon gamma receptor deficiency 1 1 IFNGR1 (3) 0.00926 0.33333 2.032e-2 2.210e-2 Advanced sleep phase syndrome Bipolar depression 1 1 PER3 (2) 0.00926 0.33333 2.032e-2 2.210e-2 2,4-dienoyl-coa reductase deficiency Liver disease 1 1 DECR1 (3) 0.00629 0.50000 2.029e-2 2.207e-2 Aicardi syndrome Liver disease 1 1 TEAD1 (2) 0.00629 0.50000 2.029e-2 2.207e-2 Liver disease Sveinsson chorioretinal atrophy 1 1 TEAD1 (4) 0.00629 0.50000 2.029e-2 2.207e-2 Liver disease Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 1 1 TRMT10A (3) 0.00629 0.50000 2.029e-2 2.207e-2 3m syndrome Spinocerebellar ataxia 1 1 CCDC8 (4) 0.00935 0.33333 2.013e-2 2.190e-2 92 Cole-carpenter syndrome Spinocerebellar ataxia 1 1 P4HB (6) 0.00935 0.33333 2.013e-2 2.190e-2 Liver failure Tessadori-van haaften neurodevelopmental syndrome 1 1 H4C1 (2) 0.01724 0.16667 2.010e-2 2.186e-2 Stomach neoplasms White-kernohan syndrome 1 1 DDB1 (5) 0.00326 1.00000 1.987e-2 2.162e-2 primordial dwarfism-immunodeficiency-lipodystrophy syndrome Uterine fibroid 1 1 PRIM1 (2) 0.00326 1.00000 1.987e-2 2.162e-2 Retrograde amnesia Stomach neoplasms 1 1 PREP (2) 0.00326 1.00000 1.987e-2 2.162e-2 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities Uterine fibroid 1 1 POLR2A (2) 0.00326 1.00000 1.987e-2 2.162e-2 IDH3B-related retinopathy Stomach neoplasms 1 1 IDH3B (2) 0.00326 1.00000 1.987e-2 2.162e-2 immunodeficiency, common variable, 10 Uterine fibroid 1 1 NFKB2 (2) 0.00326 1.00000 1.987e-2 2.162e-2 Isobutyryl-coa dehydrogenase deficiency Stomach neoplasms 1 1 ACAD8 (3) 0.00326 1.00000 1.987e-2 2.162e-2 4 KCND2-related neurodevelopmental disorder with or without seizures Uterine fibroid 1 1 KCND2 (2) 0.00326 1.00000 1.987e-2 2.162e-2 Hereditary arterial and articular multiple calcification syndrome Stomach neoplasms 1 1 NT5E (4) 0.00326 1.00000 1.987e-2 2.162e-2 hereditary fructose intolerance Stomach neoplasms 1 1 ALDOB (2) 0.00326 1.00000 1.987e-2 2.162e-2 hypomyelinating leukodystrophy 13 Stomach neoplasms 1 1 HIKESHI (2) 0.00326 1.00000 1.987e-2 2.162e-2 leukodystrophy, hypomyelinating, 21 Stomach neoplasms 1 1 POLR3K (2) 0.00326 1.00000 1.987e-2 2.162e-2 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Uterine fibroid 1 1 CDC42 (2) 0.00326 1.00000 1.987e-2 2.162e-2 Microtia Stomach neoplasms 1 1 HOXA2 (3) 0.00326 1.00000 1.987e-2 2.162e-2 mitochondrial short-chain enoyl-coa hydratase 1 deficiency Stomach neoplasms 1 1 ECHS1 (2) 0.00326 1.00000 1.987e-2 2.162e-2 extraoral halitosis due to methanethiol oxidase deficiency Stomach neoplasms 1 1 SELENBP1 (2) 0.00326 1.00000 1.987e-2 2.162e-2 4 Congenital alpha-fetoprotein deficiency Stomach neoplasms 1 1 AFP (3) 0.00326 1.00000 1.987e-2 2.162e-2 Anterior pituitary function deficiency with variable immunodeficiency Uterine fibroid 1 1 NFKB2 (3) 0.00326 1.00000 1.987e-2 2.162e-2 autoimmune lymphoproliferative syndrome type 2A Stomach neoplasms 1 1 CASP10 (2) 0.00326 1.00000 1.987e-2 2.162e-2 autosomal dominant combined immunodeficiency due to ERBIN deficiency Uterine fibroid 1 1 ERBIN (2) 0.00326 1.00000 1.987e-2 2.162e-2 Autosomal recessive hypomyelinating leukodystrophy Stomach neoplasms 1 1 HIKESHI (4) 0.00326 1.00000 1.987e-2 2.162e-2 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects Stomach neoplasms 1 1 EXOSC5 (5) 0.00326 1.00000 1.987e-2 2.162e-2 4 Cerebrocostomandibular syndrome Stomach neoplasms 1 1 SNRPB (6) 0.00326 1.00000 1.987e-2 2.162e-2 dyskeratosis congenita, autosomal recessive 3 Uterine fibroid 1 1 WRAP53 (2) 0.00326 1.00000 1.987e-2 2.162e-2 Bilateral microtia with deafness and cleft palate syndrome Stomach neoplasms 1 1 HOXA2 (5) 0.00326 1.00000 1.987e-2 2.162e-2 Combined immunodeficiency disease Epidermodysplasia verruciformis 1 0 MST1 (1) 0.01961 0.14286 1.984e-2 2.161e-2 Fructokinase deficiency Liver neoplasms 1 1 CGREF1 (2) 0.00649 0.50000 1.965e-2 2.140e-2 Birt-hogg-dube syndrome Liver neoplasms 1 1 FLCN (7) 0.00649 0.50000 1.965e-2 2.140e-2 Astrocytoma cardiomyopathy, dilated, 2k 1 1 MYZAP (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma Compton-north congenital myopathy 1 1 CNTN1 (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma Congenital lethal myopathy 1 1 CNTN1 (3) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma fibrodysplasia ossificans progressiva 1 1 ACVR1 (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma GM3 synthase deficiency 1 1 ST3GAL5 (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies 1 1 RAP1B (2) 0.00331 1.00000 1.955e-2 2.130e-2 291 Astrocytoma retinitis pigmentosa 86 1 1 KIAA1549 (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma Rhizomelic limb shortening with dysmorphic features 1 1 PKDCC (5) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma Salt and pepper developmental regression syndrome 1 1 ST3GAL5 (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma scalp-ear-nipple syndrome 1 1 KCTD1 (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma Helsmoortel-van der aa syndrome 1 1 ADNP (2) 0.00331 1.00000 1.955e-2 2.130e-2 Astrocytoma hypomyelinating leukodystrophy 5 1 1 HYCC1 (2) 0.00331 1.00000 1.955e-2 2.130e-2 Neuroblastoma Ocular anomalies with axonal neuropathy and developmental delay 1 1 CHD5 (2) 0.00654 0.50000 1.952e-2 2.128e-2 Mood disorder thrombocytopenia 3 1 1 FYB1 (2) 0.00334 1.00000 1.935e-2 2.110e-2 Mood disorder xeroderma pigmentosum group E 1 1 DDB2 (2) 0.00334 1.00000 1.935e-2 2.110e-2 Mood disorder pseudohypoaldosteronism type 2E 1 1 CUL3 (2) 0.00334 1.00000 1.935e-2 2.110e-2 Borderline personality disorder Mood disorder 1 0 TPH1 (1) 0.00334 1.00000 1.935e-2 2.110e-2 chondrodysplasia with joint dislocations, gpapp type Mood disorder 1 1 BPNT2 (2) 0.00334 1.00000 1.935e-2 2.110e-2 Choreoacanthocytosis Mood disorder 1 1 VPS13A (3) 0.00334 1.00000 1.935e-2 2.110e-2 ciliary dyskinesia, primary, 45 Mood disorder 1 1 TTC12 (2) 0.00334 1.00000 1.935e-2 2.110e-2 Congenital small-platelet thrombocytopenia Mood disorder 1 1 FYB1 (3) 0.00334 1.00000 1.935e-2 2.110e-2 Autoimmune nervous system disorder Common variable immunodeficiency 1 1 EOMES (3) 0.01266 0.25000 1.934e-2 2.110e-2 ciliary dyskinesia, primary, 49, without situs inversus Estrogen-receptor negative breast cancer 1 1 CFAP74 (2) 0.00337 1.00000 1.922e-2 2.097e-2 Diabetes mellitus Early-onset calcifying leukoencephalopathy-skeletal dysplasia 1 1 CSF1R (3) 0.00337 1.00000 1.922e-2 2.097e-2 Brain abnormalities neurodegeneration dysosteosclerosis Diabetes mellitus 1 1 CSF1R (5) 0.00337 1.00000 1.922e-2 2.097e-2 Estrogen-receptor negative breast cancer Uric acid urolithiasis 1 1 ZNF365 (2) 0.00337 1.00000 1.922e-2 2.097e-2 Estrogen-receptor negative breast cancer glycosylphosphatidylinositol biosynthesis defect 17 1 1 PIGH (2) 0.00337 1.00000 1.922e-2 2.097e-2 Estrogen-receptor negative breast cancer snijders blok-campeau syndrome 1 1 CHD3 (2) 0.00337 1.00000 1.922e-2 2.097e-2 Diabetes mellitus immune dysregulation, autoimmunity, and autoinflammation 1 1 PLCG1 (2) 0.00337 1.00000 1.922e-2 2.097e-2 Diabetes mellitus leukoencephalopathy, diffuse hereditary, with spheroids 1 1 1 CSF1R (2) 0.00337 1.00000 1.922e-2 2.097e-2 Diabetes mellitus mehmo syndrome 1 1 EIF2S3 (3) 0.00337 1.00000 1.922e-2 2.097e-2 182 Colorectal neoplasms Parenti-mignot neurodevelopmental syndrome 1 1 CHD5 (5) 0.00342 1.00000 1.890e-2 2.063e-2 Colorectal neoplasms PGM1-congenital disorder of glycosylation 1 1 PGM1 (2) 0.00342 1.00000 1.890e-2 2.063e-2 Colorectal neoplasms Intellectual developmental disorder autism speech dysmorphic 1 1 CHD1 (2) 0.00342 1.00000 1.890e-2 2.063e-2 Colorectal neoplasms extraoral halitosis due to methanethiol oxidase deficiency 1 1 SELENBP1 (2) 0.00342 1.00000 1.890e-2 2.063e-2 4 Blepharophimosis-ptosis-epicanthus inversus syndrome Colorectal neoplasms 1 1 FOXL2 (6) 0.00342 1.00000 1.890e-2 2.063e-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 2.063e-2 Colorectal neoplasms DPAGT1-congenital disorder of glycosylation 1 1 DPAGT1 (2) 0.00342 1.00000 1.890e-2 2.063e-2 Colorectal neoplasms Duodenal atresia 1 1 GUCY2C (2) 0.00342 1.00000 1.890e-2 2.063e-2 Colorectal neoplasms Enteropathy 1 1 SLCO2A1 (3) 0.00342 1.00000 1.890e-2 2.063e-2 Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Colorectal neoplasms 1 1 GUCY2C (3) 0.00342 1.00000 1.890e-2 2.063e-2 Ankle fracture Osteoporosis 1 0 WNT16 (1) 0.00676 0.50000 1.887e-2 2.061e-2 Diaphragm disease Osteoporosis 1 1 WNT3A (2) 0.00676 0.50000 1.887e-2 2.061e-2 Heart disease Rib fracture 1 0 TENM2 (1) 0.00676 0.50000 1.887e-2 2.061e-2 Lewis lung carcinoma Mesothelioma 1 0 TXNRD1 (1) 0.00680 0.50000 1.875e-2 2.047e-2 Multiple myeloma Thyroid hormone metabolism disorder 1 1 DIO1 (3) 0.00690 0.50000 1.849e-2 2.019e-2 Developmental disability Intellectual developmental disorder dysmorphic ptosis 1 1 BRPF1 (5) 0.00690 0.50000 1.849e-2 2.019e-2 Congenital cataract hearing loss developmental delay syndrome Developmental disability 1 1 SLC33A1 (3) 0.00690 0.50000 1.849e-2 2.019e-2 adult neuronal ceroid lipofuscinosis Developmental disability 1 1 CTSF (2) 0.00690 0.50000 1.849e-2 2.019e-2 Glycine encephalopathy Osteosarcoma 1 1 GLDC (8) 0.01613 0.20000 1.837e-2 2.007e-2 Hypertyrosinemia Motor neuron disease 1 1 ALS2 (2) 0.01333 0.25000 1.832e-2 2.001e-2 Intellectual developmental disorder speech peripheral neuropathy Nonsyndromic intellectual disability 1 1 NEMF (5) 0.00699 0.50000 1.823e-2 1.992e-2 Hyperlipidemia propionic acidemia 1 1 PCCB (2) 0.00699 0.50000 1.823e-2 1.992e-2 Acetyl-coa acetyltransferase deficiency Seizures 1 1 ACAT1 (3) 0.00699 0.50000 1.823e-2 1.992e-2 Developmental delay with or without intellectual or behavioral abnormalities Nonsyndromic intellectual disability 1 1 TAOK1 (4) 0.00699 0.50000 1.823e-2 1.992e-2 Dorfman-chanarin disease Gastroesophageal reflux disease 1 1 ABHD5 (3) 0.00357 1.00000 1.812e-2 1.980e-2 2,8-dihydroxyadenine urolithiasis Depression 1 0 APRT (1) 0.00357 1.00000 1.812e-2 1.980e-2 Adenine phosphoribosyltransferase deficiency Depression 1 1 APRT (2) 0.00357 1.00000 1.812e-2 1.980e-2 Alopecia-neurological defects-endocrinopathy syndrome Depression 1 1 RBM28 (3) 0.00357 1.00000 1.812e-2 1.980e-2 2 Apolipoprotein c-ii deficiency Gastroesophageal reflux disease 1 1 APOC2 (5) 0.00357 1.00000 1.812e-2 1.980e-2 Childhood-onset basal ganglia degeneration syndrome Gastroesophageal reflux disease 1 1 VAC14 (3) 0.00357 1.00000 1.812e-2 1.980e-2 Chromosome 15q deletion syndrome Depression 1 1 MCTP2 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Chromosome 2p16.1-p15 deletion syndrome Gastroesophageal reflux disease 1 1 USP34 (2) 0.00357 1.00000 1.812e-2 1.980e-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 1.980e-2 Congenital heart defect, intellectual disability, facial dysmorphism syndrome Gastroesophageal reflux disease 1 1 CDK13 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Aromatic l-amino-acid decarboxylase deficiency Depression 1 1 DDC (3) 0.00357 1.00000 1.812e-2 1.980e-2 Borderline personality disorder Depression 1 0 TPH1 (1) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease glycogen storage disease VI 1 1 PYGL (2) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease microcephaly and chorioretinopathy 1 1 1 TUBGCP6 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease microcornea-myopic chorioretinal atrophy 1 1 ADAMTS18 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease Muggenthaler-chowdhury-chioza syndrome 1 1 HYAL2 (3) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease neonatal/infantile epilepsy syndrome 1 1 KCNH5 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Depression neurodevelopmental disorder with language impairment and behavioral abnormalities 1 1 GRIA2 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Depression immunodeficiency 106, susceptibility to viral infections 1 1 IFNAR1 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease immunodeficiency 53 1 1 RELB (2) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease hemochromatosis type 3 1 1 TFR2 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease hermansky-pudlak syndrome 8 1 1 BLOC1S3 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Depression Hypertryptophanemia 1 1 TDO2 (6) 0.00357 1.00000 1.812e-2 1.980e-2 Depression systemic lupus erythematosus 17 1 1 TLR7 (2) 0.00357 1.00000 1.812e-2 1.980e-2 Gastroesophageal reflux disease Thauvin-robinet-faivre syndrome 1 1 FIBP (3) 0.00357 1.00000 1.812e-2 1.980e-2 Congenital heart defects Visceral heterotaxy 1 1 LEFTY2 (2) 0.01351 0.25000 1.806e-2 1.976e-2 Cirrhosis Digestive system disease 1 1 UTP4 (2) 0.01042 0.33333 1.801e-2 1.971e-2 Degenerative polyarthritis Immunodeficiency 1 1 TLR8 (4) 0.00709 0.50000 1.797e-2 1.967e-2 Birt-hogg-dube syndrome Renal cell carcinoma 1 1 FLCN (7) 0.00709 0.50000 1.797e-2 1.967e-2 Carnitine acetyltransferase deficiency Pelvic organ prolapse 1 1 CRAT (2) 0.00709 0.50000 1.797e-2 1.967e-2 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Immunodeficiency 1 1 RNF31 (6) 0.00709 0.50000 1.797e-2 1.967e-2 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Dilated cardiomyopathy 1 1 PPP1R13L (3) 0.00365 1.00000 1.773e-2 1.940e-2 Atrial tachyarrhythmia, infra-hisian cardiac conduction disease Dilated cardiomyopathy 1 1 TNNI3K (3) 0.00365 1.00000 1.773e-2 1.940e-2 3 Barth syndrome Dilated cardiomyopathy 1 1 TAFAZZIN (6) 0.00365 1.00000 1.773e-2 1.940e-2 3 Dilated cardiomyopathy dilated cardiomyopathy 1M 1 1 CSRP3 (8) 0.00365 1.00000 1.773e-2 1.940e-2 3 Dilated cardiomyopathy dilated cardiomyopathy 1V 1 1 PSEN2 (7) 0.00365 1.00000 1.773e-2 1.940e-2 Dilated cardiomyopathy dilated cardiomyopathy 1Z 1 1 TNNC1 (8) 0.00365 1.00000 1.773e-2 1.940e-2 3 Dilated cardiomyopathy dilated cardiomyopathy 2B 1 1 GATAD1 (7) 0.00365 1.00000 1.773e-2 1.940e-2 Dilated cardiomyopathy DK1-congenital disorder of glycosylation 1 1 DOLK (4) 0.00365 1.00000 1.773e-2 1.940e-2 cardiomyopathy, dilated, 2d Dilated cardiomyopathy 1 1 RPL3L (6) 0.00365 1.00000 1.773e-2 1.940e-2 cardiomyopathy, dilated, 2g Dilated cardiomyopathy 1 1 LMOD2 (6) 0.00365 1.00000 1.773e-2 1.940e-2 cardiomyopathy, dilated, 2h Dilated cardiomyopathy 1 1 GET3 (6) 0.00365 1.00000 1.773e-2 1.940e-2 3 cardiomyopathy, dilated, 2j Dilated cardiomyopathy 1 1 FLII (6) 0.00365 1.00000 1.773e-2 1.940e-2 cardiomyopathy, dilated, 2k Dilated cardiomyopathy 1 1 MYZAP (5) 0.00365 1.00000 1.773e-2 1.940e-2 Danon disease Dilated cardiomyopathy 1 1 LAMP2 (5) 0.00365 1.00000 1.773e-2 1.940e-2 combined immunodeficiency due to OX40 deficiency Dilated cardiomyopathy 1 1 TNFRSF4 (3) 0.00365 1.00000 1.773e-2 1.940e-2 Dilated cardiomyopathy lymphoproliferative syndrome 2 1 1 CD27 (3) 0.00365 1.00000 1.773e-2 1.940e-2 Dilated cardiomyopathy Rhizomelic dysplasia, ain-naz type 1 1 GNPNAT1 (4) 0.00365 1.00000 1.773e-2 1.940e-2 Dilated cardiomyopathy Spastic ataxia with leukoencephalopathy 1 1 MARS2 (2) 0.00365 1.00000 1.773e-2 1.940e-2 Dilated cardiomyopathy spermatogenic failure 39 1 1 DNAH17 (2) 0.00365 1.00000 1.773e-2 1.940e-2 Dilated cardiomyopathy immunodeficiency 109 with lymphoproliferation 1 1 TNFRSF9 (3) 0.00365 1.00000 1.773e-2 1.940e-2 immunodeficiency-centromeric instability-facial anomalies syndrome 3 Ovarian serous carcinoma 1 1 CDCA7 (2) 0.00369 1.00000 1.753e-2 1.921e-2 Laryngeal hypoplasia Ovarian serous carcinoma 1 1 FOXP4 (2) 0.00369 1.00000 1.753e-2 1.921e-2 Ovarian serous carcinoma Short telomere syndrome 1 1 ACD (3) 0.00369 1.00000 1.753e-2 1.921e-2 Ovarian serous carcinoma snijders blok-campeau syndrome 1 1 CHD3 (2) 0.00369 1.00000 1.753e-2 1.921e-2 osteopetrosis, autosomal dominant 3 Ovarian serous carcinoma 1 1 PLEKHM1 (2) 0.00369 1.00000 1.753e-2 1.921e-2 hao-fountain syndrome Ovarian serous carcinoma 1 1 USP7 (2) 0.00369 1.00000 1.753e-2 1.921e-2 autosomal recessive osteopetrosis 6 Ovarian serous carcinoma 1 1 PLEKHM1 (2) 0.00369 1.00000 1.753e-2 1.921e-2 16p13.2 microdeletion syndrome Ovarian serous carcinoma 1 1 USP7 (2) 0.00369 1.00000 1.753e-2 1.921e-2 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Ovarian serous carcinoma 1 1 PDSS1 (4) 0.00369 1.00000 1.753e-2 1.921e-2 Irritable bowel syndrome Patellar tendinitis 1 0 STK17A (1) 0.00735 0.50000 1.733e-2 1.900e-2 2 Glycinuria with/without oxalate urolithiasis Hirschsprung disease 1 1 SLC6A20 (2) 0.01408 0.25000 1.729e-2 1.896e-2 fanconi anemia complementation group l Juvenile idiopathic arthritis 1 1 FANCL (2) 0.00375 1.00000 1.727e-2 1.894e-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 1.894e-2 combined immunodeficiency due to moesin deficiency Juvenile idiopathic arthritis 1 1 MSN (2) 0.00375 1.00000 1.727e-2 1.894e-2 Aplasia cutis-enamel dysplasia syndrome Juvenile idiopathic arthritis 1 1 FOSL2 (4) 0.00375 1.00000 1.727e-2 1.894e-2 cardiomyopathy, dilated, 2k Juvenile idiopathic arthritis 1 1 MYZAP (2) 0.00375 1.00000 1.727e-2 1.894e-2 320 Angiokeratoma Intellectual developmental disorder, x-linked 1 1 GLA (2) 0.01087 0.33333 1.724e-2 1.891e-2 Kleine-levin syndrome Microphthalmia 1 1 NAA10 (6) 0.02222 0.14286 1.715e-2 1.881e-2 Intellectual developmental disorder dysmorphic brain Liver cirrhosis 1 1 TRAPPC9 (4) 0.00377 1.00000 1.715e-2 1.880e-2 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Liver cirrhosis 1 1 SLC38A8 (2) 0.00377 1.00000 1.715e-2 1.880e-2 glycogen storage disease IXc Liver cirrhosis 1 1 PHKG2 (2) 0.00377 1.00000 1.715e-2 1.880e-2 Liver cirrhosis Mineralocortocoid excess 1 1 HSD11B2 (7) 0.00377 1.00000 1.715e-2 1.880e-2 Corticosteroid-binding globulin deficiency Liver cirrhosis 1 1 SERPINA6 (6) 0.00377 1.00000 1.715e-2 1.880e-2 Brain calcification Liver cirrhosis 1 0 FARSB (1) 0.00377 1.00000 1.715e-2 1.880e-2 Congenital stromal corneal dystrophy Endometrial neoplasms 1 1 DCN (4) 0.00746 0.50000 1.707e-2 1.873e-2 Charcot-marie-tooth disease Congenital cataract facial dysmorphism neuropathy syndrome 1 1 CTDP1 (6) 0.00746 0.50000 1.707e-2 1.873e-2 Endometrial neoplasms Toe syndactyly-telecanthus-anogenital and renal malformations syndrome 1 1 STAR (2) 0.00746 0.50000 1.707e-2 1.873e-2 Chromosome y microdeletion syndrome Testicular azoospermia 1 1 DDX3Y (2) 0.02439 0.12500 1.702e-2 1.868e-2 Cancer thrombocytopenia 2 1 1 ANKRD26 (2) 0.00382 1.00000 1.695e-2 1.860e-2 Cancer Laryngeal hypoplasia 1 1 FOXP4 (2) 0.00382 1.00000 1.695e-2 1.860e-2 Cancer immune dysregulation, autoimmunity, and autoinflammation 1 1 PLCG1 (2) 0.00382 1.00000 1.695e-2 1.860e-2 Cancer immunodeficiency-centromeric instability-facial anomalies syndrome 3 1 1 CDCA7 (2) 0.00382 1.00000 1.695e-2 1.860e-2 Cancer Essential pentosuria 1 1 DCXR (2) 0.00382 1.00000 1.695e-2 1.860e-2 21 Cancer snijders blok-campeau syndrome 1 1 CHD3 (2) 0.00382 1.00000 1.695e-2 1.860e-2 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Tourette syndrome 1 1 SLC30A9 (2) 0.00386 1.00000 1.676e-2 1.839e-2 Hypertryptophanemia Tourette syndrome 1 1 TDO2 (6) 0.00386 1.00000 1.676e-2 1.839e-2 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Tourette syndrome 1 1 SHMT2 (2) 0.00386 1.00000 1.676e-2 1.839e-2 75 Intellectual developmental disorder seizures behavioral Tourette syndrome 1 1 ALG14 (4) 0.00386 1.00000 1.676e-2 1.839e-2 jalili syndrome Tourette syndrome 1 1 CNNM4 (2) 0.00386 1.00000 1.676e-2 1.839e-2 KIZ-related retinopathy Tourette syndrome 1 1 KIZ (2) 0.00386 1.00000 1.676e-2 1.839e-2 Amaurosis hypertrichosis Tourette syndrome 1 1 CNNM4 (3) 0.00386 1.00000 1.676e-2 1.839e-2 Diets-jongmans syndrome Tourette syndrome 1 1 KDM3B (5) 0.00386 1.00000 1.676e-2 1.839e-2 Early-onset distal myopathy Tourette syndrome 1 1 KLHL9 (2) 0.00386 1.00000 1.676e-2 1.839e-2 75 Birk-landau-perez syndrome Tourette syndrome 1 1 SLC30A9 (3) 0.00386 1.00000 1.676e-2 1.839e-2 cardiomyopathy, dilated, 2f Tourette syndrome 1 1 BAG5 (2) 0.00386 1.00000 1.676e-2 1.839e-2 75 Autoinflammatory syndrome Proteasome associated autoinflammatory syndrome 1 1 PSMB8 (6) 0.02273 0.14286 1.670e-2 1.834e-2 Esophageal squamous cell carcinoma White spongue nevus 1 1 KRT13 (6) 0.00763 0.50000 1.669e-2 1.833e-2 Brown-vialetto-van laere syndrome Esophageal squamous cell carcinoma 1 1 SLC52A3 (6) 0.00763 0.50000 1.669e-2 1.833e-2 Major salivary gland carcinoma Nasopharyngeal neoplasms 1 0 PPFIA2 (1) 0.02041 0.16667 1.664e-2 1.828e-2 Hypertrophic cardiomyopathy Tritanopia 1 1 OPN1SW (4) 0.00389 1.00000 1.663e-2 1.826e-2 Hypertrophic cardiomyopathy Parkinsonism with polyneuropathy 1 1 UQCRC1 (3) 0.00389 1.00000 1.663e-2 1.826e-2 Hypertrophic cardiomyopathy Rhizomelic dysplasia, ain-naz type 1 1 GNPNAT1 (4) 0.00389 1.00000 1.663e-2 1.826e-2 Hypertrophic cardiomyopathy Intellectual developmental disorder behavioral dysmorphic 1 1 PHF21A (4) 0.00389 1.00000 1.663e-2 1.826e-2 dilated cardiomyopathy 1M Hypertrophic cardiomyopathy 1 1 CSRP3 (4) 0.00389 1.00000 1.663e-2 1.826e-2 3 dilated cardiomyopathy 1Z Hypertrophic cardiomyopathy 1 1 TNNC1 (3) 0.00389 1.00000 1.663e-2 1.826e-2 3 distal myopathy with vocal cord weakness Hypertrophic cardiomyopathy 1 1 MATR3 (2) 0.00389 1.00000 1.663e-2 1.826e-2 Danon disease Hypertrophic cardiomyopathy 1 1 LAMP2 (5) 0.00389 1.00000 1.663e-2 1.826e-2 Congenital cataract microcornea with corneal opacity Systemic sclerosis 1 1 PXDN (3) 0.00769 0.50000 1.656e-2 1.819e-2 Neuroocular syndrome Systemic sclerosis 1 1 PRR12 (5) 0.00769 0.50000 1.656e-2 1.819e-2 22 Fructokinase deficiency Vascular dementia 1 1 CGREF1 (2) 0.00769 0.50000 1.656e-2 1.819e-2 extraoral halitosis due to methanethiol oxidase deficiency Lung neoplasms 1 1 SELENBP1 (2) 0.00392 1.00000 1.650e-2 1.813e-2 4 Lung neoplasms Rufous oculocutaneous albinism 1 0 TYRP1 (1) 0.00392 1.00000 1.650e-2 1.813e-2 Lung neoplasms SMARCC1-associated developmental dysgenesis syndrome 1 1 SMARCC1 (2) 0.00392 1.00000 1.650e-2 1.813e-2 Lung neoplasms Urinary tract obstruction 1 1 RIOX2 (2) 0.00392 1.00000 1.650e-2 1.813e-2 Lung neoplasms xeroderma pigmentosum group C 1 1 XPC (2) 0.00392 1.00000 1.650e-2 1.813e-2 Lung neoplasms mucopolysaccharidosis type 2 1 1 IDS (2) 0.00392 1.00000 1.650e-2 1.813e-2 Lung neoplasms Prader-willi-like syndrome 1 1 CPE (2) 0.00392 1.00000 1.650e-2 1.813e-2 Lung neoplasms Pulmonary agenesis 1 1 EFNB2 (2) 0.00392 1.00000 1.650e-2 1.813e-2 4 Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome Lung neoplasms 1 1 FOSL2 (2) 0.00392 1.00000 1.650e-2 1.813e-2 Corpus callosum agenesis with intellectual disability, coloboma, micrognathia Lung neoplasms 1 1 IGBP1 (5) 0.00392 1.00000 1.650e-2 1.813e-2 Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia Lung neoplasms 1 1 IGBP1 (3) 0.00392 1.00000 1.650e-2 1.813e-2 Aplasia cutis-enamel dysplasia syndrome Lung neoplasms 1 1 FOSL2 (5) 0.00392 1.00000 1.650e-2 1.813e-2 A4GALT-congenital disorder of glycosylation Kidney failure 1 1 A4GALT (2) 0.00397 1.00000 1.630e-2 1.793e-2 Acromelic frontonasal dysostosis Anorexia nervosa 1 1 ZSWIM6 (2) 0.00397 1.00000 1.630e-2 1.793e-2 Amaurosis hypertrichosis Anorexia nervosa 1 1 CNNM4 (3) 0.00397 1.00000 1.630e-2 1.793e-2 Childhood-onset basal ganglia degeneration syndrome Pancreatic cancer 1 1 VAC14 (3) 0.00397 1.00000 1.630e-2 1.793e-2 Beta-ketothiolase deficiency Kidney failure 1 1 ACAT1 (5) 0.00397 1.00000 1.630e-2 1.793e-2 Dalmatian hypouricemia Kidney failure 1 1 SLC22A12 (2) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa Birk-landau-perez syndrome 1 1 SLC30A9 (3) 0.00397 1.00000 1.630e-2 1.793e-2 Brainstem atrophy Kidney failure 1 0 MCOLN1 (1) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa cardiomyopathy, dilated, 2f 1 1 BAG5 (2) 0.00397 1.00000 1.630e-2 1.793e-2 75 Anorexia nervosa Diets-jongmans syndrome 1 1 KDM3B (5) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa pseudohypoaldosteronism type 2E 1 1 CUL3 (2) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 1 1 SLC30A9 (2) 0.00397 1.00000 1.630e-2 1.793e-2 Kidney failure RD3-related retinopathy 1 1 RD3 (2) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa short chain acyl-coa dehydrogenase deficiency 1 1 ACADS (2) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa focal segmental glomerulosclerosis and neurodevelopmental syndrome 1 1 TRIM8 (2) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1 1 SHMT2 (2) 0.00397 1.00000 1.630e-2 1.793e-2 75 Anorexia nervosa jalili syndrome 1 1 CNNM4 (2) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa KIZ-related retinopathy 1 1 KIZ (2) 0.00397 1.00000 1.630e-2 1.793e-2 Anorexia nervosa Hip dislocation-facial dysmorphism syndrome 1 1 TRIM33 (3) 0.00397 1.00000 1.630e-2 1.793e-2 Skin cancer Uncombable hair syndrome 1 1 TGM3 (6) 0.01149 0.33333 1.628e-2 1.792e-2 Autoimmune nervous system disorder Mouth neoplasms 1 1 ANXA5 (2) 0.01493 0.25000 1.627e-2 1.791e-2 Chromosome 12p deletion syndrome Diverticular disease 1 1 ERC1 (3) 0.00400 1.00000 1.617e-2 1.780e-2 Congenital insufficiency of mitral valve Diverticular disease 1 1 LMCD1 (2) 0.00400 1.00000 1.617e-2 1.780e-2 Adenosine kinase deficiency Diverticular disease 1 1 ADK (3) 0.00400 1.00000 1.617e-2 1.780e-2 Biotinidase deficiency Diverticular disease 1 1 BTD (8) 0.00400 1.00000 1.617e-2 1.780e-2 Diverticular disease pseudohypoaldosteronism type 2E 1 1 CUL3 (2) 0.00400 1.00000 1.617e-2 1.780e-2 Diverticular disease macular corneal dystrophy 1 1 CHST6 (2) 0.00400 1.00000 1.617e-2 1.780e-2 Diverticular disease schneckenbecken dysplasia 1 1 SLC35D1 (2) 0.00400 1.00000 1.617e-2 1.780e-2 Diverticular disease immunodeficiency 106, susceptibility to viral infections 1 1 IFNAR1 (2) 0.00400 1.00000 1.617e-2 1.780e-2 Diverticular disease joubert syndrome 30 1 1 ARMC9 (2) 0.00400 1.00000 1.617e-2 1.780e-2 Diverticular disease FADD-related immunodeficiency 1 1 FADD (3) 0.00400 1.00000 1.617e-2 1.780e-2 Pernicious anemia Seborrheic keratosis 1 0 POU2F3 (1) 0.02564 0.12500 1.600e-2 1.762e-2 Cardiomyopathy primary ciliary dyskinesia 2 1 1 DNAAF3 (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy Vici syndrome 1 1 EPG5 (6) 0.00408 1.00000 1.585e-2 1.746e-2 3 Cardiomyopathy xeroderma pigmentosum group E 1 1 DDB2 (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy Malonyl-coa decarboxylase deficiency 1 1 MLYCD (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy Mitochondrial encephalocardiomyopathy 1 1 TMEM70 (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy intrinsic cardiomyopathy 1 1 PLN (4) 0.00408 1.00000 1.585e-2 1.746e-2 3 Cardiomyopathy nemaline myopathy 5 1 1 TNNT1 (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy cardiomyopathy, dilated, 2d 1 1 RPL3L (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy cardiomyopathy, dilated, 2f 1 1 BAG5 (2) 0.00408 1.00000 1.585e-2 1.746e-2 Barth syndrome Cardiomyopathy 1 1 TAFAZZIN (5) 0.00408 1.00000 1.585e-2 1.746e-2 3 Beta-sarcoglycanopathy Cardiomyopathy 1 1 SGCB (3) 0.00408 1.00000 1.585e-2 1.746e-2 Amish nemaline myopathy Cardiomyopathy 1 1 TNNT1 (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy dilated cardiomyopathy 1CC 1 1 NEXN (4) 0.00408 1.00000 1.585e-2 1.746e-2 3 Cardiomyopathy dilated cardiomyopathy 1M 1 1 CSRP3 (4) 0.00408 1.00000 1.585e-2 1.746e-2 3 Cardiomyopathy dilated cardiomyopathy 1Z 1 1 TNNC1 (4) 0.00408 1.00000 1.585e-2 1.746e-2 3 Cardiomyopathy DK1-congenital disorder of glycosylation 1 1 DOLK (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy DPM3-congenital disorder of glycosylation 1 1 DPM3 (2) 0.00408 1.00000 1.585e-2 1.746e-2 Cardiomyopathy Danon disease 1 1 LAMP2 (5) 0.00408 1.00000 1.585e-2 1.746e-2 Central vertigo Ocular hypertension 1 0 OTOGL (1) 0.01852 0.20000 1.581e-2 1.744e-2 Ocular hypertension Peripheral vertigo 1 0 OTOGL (1) 0.01852 0.20000 1.581e-2 1.744e-2 Mitochondrial disease Pancreatic insufficiency syndrome 1 1 COX4I2 (6) 0.00412 1.00000 1.572e-2 1.733e-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 1.733e-2 62 Mitochondrial disease optic atrophy 11 1 1 YME1L1 (3) 0.00412 1.00000 1.572e-2 1.733e-2 Mitochondrial disease optic atrophy 9 1 1 ACO2 (3) 0.00412 1.00000 1.572e-2 1.733e-2 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Mitochondrial disease 1 1 CHCHD10 (3) 0.00412 1.00000 1.572e-2 1.733e-2 hyperphosphatasia with intellectual disability syndrome 6 Mitochondrial disease 1 1 PIGY (2) 0.00412 1.00000 1.572e-2 1.733e-2 Mitochondrial disease Spastic ataxia optic atrophy dysarthria syndrome 1 1 MTPAP (4) 0.00412 1.00000 1.572e-2 1.733e-2 Mitochondrial disease Spastic ataxia with leukoencephalopathy 1 1 MARS2 (4) 0.00412 1.00000 1.572e-2 1.733e-2 Mitochondrial disease Mitochondrial encephalocardiomyopathy 1 1 TMEM70 (3) 0.00412 1.00000 1.572e-2 1.733e-2 62 Childhood-onset dystonia Mitochondrial disease 1 0 MECR (1) 0.00412 1.00000 1.572e-2 1.733e-2 Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Mitochondrial disease 1 1 MECR (4) 0.00412 1.00000 1.572e-2 1.733e-2 Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Mitochondrial disease 1 1 PDSS1 (5) 0.00412 1.00000 1.572e-2 1.733e-2 Combined oxidative phosphorylation defect Mitochondrial disease 1 1 WARS2 (3) 0.00412 1.00000 1.572e-2 1.733e-2 Early-onset dystonia with spastic paraplegia Mitochondrial disease 1 1 ATP5MC3 (5) 0.00412 1.00000 1.572e-2 1.733e-2 62 autosomal recessive optic atrophy, OPA7 type Mitochondrial disease 1 1 TMEM126A (3) 0.00412 1.00000 1.572e-2 1.733e-2 3-hydroxyisobutyryl-coa hydrolase deficiency Mitochondrial disease 1 1 HIBCH (4) 0.00412 1.00000 1.572e-2 1.733e-2 Aminoglycoside-induced deafness Mitochondrial disease 1 1 TRMU (4) 0.00412 1.00000 1.572e-2 1.733e-2 Male infertility globozoospermia Teratozoospermia 1 1 SPATA16 (2) 0.02778 0.11111 1.568e-2 1.730e-2 lymphoproliferative syndrome 1 Respiratory system disease 1 1 ITK (2) 0.00413 1.00000 1.565e-2 1.728e-2 optic atrophy 9 Respiratory system disease 1 1 ACO2 (2) 0.00413 1.00000 1.565e-2 1.728e-2 ITPKB deficiency Respiratory system disease 1 1 ITPKB (2) 0.00413 1.00000 1.565e-2 1.728e-2 Catifa syndrome Respiratory system disease 1 1 RIC1 (5) 0.00413 1.00000 1.565e-2 1.728e-2 Autoinflammation with episodic fever and immune dysregulation Respiratory system disease 1 1 SHARPIN (4) 0.00413 1.00000 1.565e-2 1.728e-2 Axonal neuropathy with neuromyotonia Respiratory system disease 1 1 HINT1 (4) 0.00413 1.00000 1.565e-2 1.728e-2 Aortic valve stenosis Spastic paraplegia 1 1 HACE1 (3) 0.00820 0.50000 1.553e-2 1.714e-2 Congenital cataract hearing loss developmental delay syndrome Spastic paraplegia 1 1 SLC33A1 (4) 0.00820 0.50000 1.553e-2 1.714e-2 Brain injuries Cystic fibrosis-related diabetes 1 1 CEBPB (2) 0.01205 0.33333 1.551e-2 1.712e-2 Complex regional pain syndrome Congenital nasopharyngeal atresia 1 1 SPAG1 (2) 0.02632 0.12500 1.548e-2 1.710e-2 Atherosclerosis Childhood kidney wilms tumor 1 1 TRIM28 (3) 0.00826 0.50000 1.540e-2 1.701e-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 Developmental delay with or without intellectual or behavioral abnormalities Nonsyndromic hearing loss 1 1 TRRAP (4) 0.00833 0.50000 1.527e-2 1.686e-2 Biliary tract cancer Lafora disease 1 1 NHLRC1 (5) 0.00833 0.50000 1.527e-2 1.686e-2 Glaucoma Inflammatory demyelinating polyneuropathy 1 0 CNBD1 (1) 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 focal segmental glomerulosclerosis and neurodevelopmental syndrome Obsessive-compulsive disorder 1 1 TRIM8 (2) 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 Winkelman bethge pfeiffer syndrome 1 1 LHX3 (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 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 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 Diabetic neuropathy Sensorineural deafness with renal dysfunction 1 1 BSND (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 Diets-jongmans syndrome Obsessive-compulsive disorder 1 1 KDM3B (5) 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 Autoinflammation, immune dysregulation, and eosinophilia Diabetic neuropathy 1 1 JAK1 (5) 0.00426 1.00000 1.520e-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 cardiomyopathy, dilated, 2f Obsessive-compulsive disorder 1 1 BAG5 (2) 0.00426 1.00000 1.520e-2 1.679e-2 75 Carnosinemia Diabetic neuropathy 1 1 CNDP1 (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 Bronchopneumonia Head and neck neoplasms 1 0 CBLB (1) 0.01923 0.20000 1.517e-2 1.678e-2 Congenital epithelial dysplasia of intestine Pancreatic neoplasms 1 1 EPCAM (2) 0.00840 0.50000 1.514e-2 1.675e-2 Connective tissue disease Smith-mccort dysplasia 1 1 DYM (6) 0.00840 0.50000 1.514e-2 1.675e-2 Pancreatic neoplasms Tropical calcific pancreatitis 1 1 SPINK1 (5) 0.00840 0.50000 1.514e-2 1.675e-2 Circadian rhythm sleep disorder Large artery stroke 1 0 CNTN5 (1) 0.01235 0.33333 1.512e-2 1.674e-2 Ataxia with oculomotor apraxia and hypoalbuminemia Epilepsy 1 1 APTX (2) 0.00427 1.00000 1.513e-2 1.674e-2 developmental and epileptic encephalopathy, 77 Epilepsy 1 1 PIGQ (2) 0.00427 1.00000 1.513e-2 1.674e-2 223 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Epilepsy 1 1 OTUD6B (2) 0.00427 1.00000 1.513e-2 1.674e-2 1q44 microdeletion syndrome Epilepsy 1 1 HNRNPU (3) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy X-linked epilepsy with learning disability and behavior disorder syndrome 1 0 SYN1 (1) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy X-linked epilepsy with variable learning disabilities and behavior disorders 1 1 SYN1 (4) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy X-linked epilepsy-learning disabilities-behavior disorders syndrome 1 1 SYN1 (2) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy Partial corpus callosum agenesis 1 1 KPNA7 (3) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy Intellectual developmental disorder dysmorphic seizures 1 1 OTUD6B (5) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy Intellectual developmental disorder seizures language 1 1 SETD1B (3) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy Juvenile absence epilepsy 1 1 EFHC1 (3) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy Neurogenic bladder 1 1 CHRM2 (2) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy Neurooculocardio-genitourinary syndrome 1 1 WDR37 (6) 0.00427 1.00000 1.513e-2 1.674e-2 Epilepsy hermansky-pudlak syndrome 4 1 1 HPS4 (2) 0.00427 1.00000 1.513e-2 1.674e-2 Fanconi anemia Renal pelvis neoplasms 1 1 FANCA (8) 0.02222 0.16667 1.510e-2 1.672e-2 Cannabis abuse Rib fracture 1 0 TENM2 (1) 0.00847 0.50000 1.501e-2 1.662e-2 3-methylcrotonyl-coa carboxylase deficiency Cannabis abuse 1 1 MCCC2 (5) 0.00847 0.50000 1.501e-2 1.662e-2 2 Butyryl-coa dehydrogenase deficiency Cannabis abuse 1 1 ACADS (3) 0.00847 0.50000 1.501e-2 1.662e-2 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 Dental caries 1 1 ELF4 (5) 0.00431 1.00000 1.500e-2 1.662e-2 autosomal recessive osteopetrosis 8 Dental caries 1 1 SNX10 (2) 0.00431 1.00000 1.500e-2 1.662e-2 Dental caries Dyggve-melchior-clausen syndrome 1 1 DYM (6) 0.00431 1.00000 1.500e-2 1.662e-2 Dental caries phosphohydroxylysinuria 1 1 PHYKPL (2) 0.00431 1.00000 1.500e-2 1.662e-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 1.662e-2 Dental caries microcornea-myopic chorioretinal atrophy 1 1 ADAMTS18 (2) 0.00431 1.00000 1.500e-2 1.662e-2 Dental caries fontaine progeroid syndrome 1 1 SLC25A24 (2) 0.00431 1.00000 1.500e-2 1.662e-2 Dental caries netherton syndrome 1 1 SPINK5 (2) 0.00431 1.00000 1.500e-2 1.662e-2 Dental caries ITPKB deficiency 1 1 ITPKB (2) 0.00431 1.00000 1.500e-2 1.662e-2 Partial corpus callosum agenesis Sclerosing cholangitis 1 1 KPNA7 (3) 0.00433 1.00000 1.494e-2 1.655e-2 Sclerosing cholangitis Thauvin-robinet-faivre syndrome 1 1 FIBP (3) 0.00433 1.00000 1.494e-2 1.655e-2 Sclerosing cholangitis Xy gonadal dysgenesis syndrome 1 1 PPP2R3C (2) 0.00433 1.00000 1.494e-2 1.655e-2 Hyaline fibromatosis Sclerosing cholangitis 1 1 ANTXR2 (3) 0.00433 1.00000 1.494e-2 1.655e-2 Keratinocyte carcinoma Uncombable hair syndrome 1 1 TGM3 (6) 0.01250 0.33333 1.493e-2 1.655e-2 Lymphocytic leukemia Thiamine metabolism dysfunction syndrome 1 1 TPK1 (4) 0.00855 0.50000 1.488e-2 1.650e-2 Congenital neurologic anomalies Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 1 1 TRMT10A (3) 0.00855 0.50000 1.488e-2 1.650e-2 Ovarian epithelial cancer Sarcoglycanopathies 1 1 SGCG (2) 0.00855 0.50000 1.488e-2 1.650e-2 Congenital neurologic anomalies Intellectual developmental disorder seizures speech 1 0 NTNG2 (1) 0.00855 0.50000 1.488e-2 1.650e-2 Congenital neurologic anomalies Lafora disease 1 1 EPM2A (4) 0.00855 0.50000 1.488e-2 1.650e-2 Lafora disease Ovarian epithelial cancer 1 1 EPM2A (5) 0.00855 0.50000 1.488e-2 1.650e-2 Myoadenylate deaminase deficiency Ovarian epithelial cancer 1 1 AMPD1 (2) 0.00855 0.50000 1.488e-2 1.650e-2 Developmental delay with variable intellectual disability Lymphocytic leukemia 1 1 JARID2 (5) 0.00855 0.50000 1.488e-2 1.650e-2 Childhood kidney wilms tumor Ovarian epithelial cancer 1 1 CTR9 (2) 0.00855 0.50000 1.488e-2 1.650e-2 Bronchopneumonia Urticaria 1 0 CBLB (1) 0.01961 0.20000 1.485e-2 1.647e-2 Canavan disease Premature ovarian failure 1 1 SPATA22 (3) 0.00862 0.50000 1.475e-2 1.636e-2 Cerebellar ataxia Neuroocular syndrome 1 1 DAGLA (2) 0.00862 0.50000 1.475e-2 1.636e-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 1.636e-2 Intellectual developmental disorder dysmorphic ptosis Spermatogenic failure 1 1 RPL10L (4) 0.00862 0.50000 1.475e-2 1.636e-2 Inflammatory skin disease Uncombable hair syndrome 1 1 TGM3 (6) 0.01266 0.33333 1.474e-2 1.635e-2 Hypogonadism Rotor syndrome 1 1 SLCO1B1 (4) 0.01266 0.33333 1.474e-2 1.635e-2 Cervical cancer severe combined immunodeficiency due to CD70 deficiency 1 1 CD70 (2) 0.00439 1.00000 1.474e-2 1.635e-2 neurodevelopmental disorder with hypotonia, neuropathy, and deafness Polycystic ovary syndrome 1 1 SPTBN4 (3) 0.00439 1.00000 1.474e-2 1.635e-2 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Polycystic ovary syndrome 1 1 MAPK8IP3 (3) 0.00439 1.00000 1.474e-2 1.635e-2 Cervical cancer macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 1 1 CDC42 (2) 0.00439 1.00000 1.474e-2 1.635e-2 meier-gorlin syndrome 5 Polycystic ovary syndrome 1 1 CDC6 (3) 0.00439 1.00000 1.474e-2 1.635e-2 Microscopic polyangiitis Polycystic ovary syndrome 1 0 CDH19 (1) 0.00439 1.00000 1.474e-2 1.635e-2 immunodeficiency 126, susceptibility to Polycystic ovary syndrome 1 1 PTCRA (3) 0.00439 1.00000 1.474e-2 1.635e-2 immunodeficiency-centromeric instability-facial anomalies syndrome 4 Polycystic ovary syndrome 1 1 HELLS (3) 0.00439 1.00000 1.474e-2 1.635e-2 Ovarian teratoma Polycystic ovary syndrome 1 1 BMP15 (3) 0.00439 1.00000 1.474e-2 1.635e-2 hermansky-pudlak syndrome 8 Polycystic ovary syndrome 1 1 BLOC1S3 (3) 0.00439 1.00000 1.474e-2 1.635e-2 cardiomyopathy, dilated, 2g Polycystic ovary syndrome 1 1 LMOD2 (2) 0.00439 1.00000 1.474e-2 1.635e-2 dyskeratosis congenita and related telomere biology disorder Polycystic ovary syndrome 1 1 RPA1 (2) 0.00439 1.00000 1.474e-2 1.635e-2 Adult-onset proximal spinal muscular atrophy Cervical cancer 1 1 VAPB (2) 0.00439 1.00000 1.474e-2 1.635e-2 amyotrophic lateral sclerosis type 8 Cervical cancer 1 1 VAPB (2) 0.00439 1.00000 1.474e-2 1.635e-2 Congenital lipoid adrenal hyperplasia Polycystic ovary syndrome 1 1 STAR (5) 0.00439 1.00000 1.474e-2 1.635e-2 Chromosomal disorder Diffuse large b-cell lymphoma 1 1 IMMP2L (2) 0.01639 0.25000 1.473e-2 1.635e-2 Diffuse large b-cell lymphoma Treacher collins syndrome 1 1 POLR1D (8) 0.01639 0.25000 1.473e-2 1.635e-2 Cerebral atherosclerosis Periodontal disease 1 1 KALRN (2) 0.03226 0.08333 1.471e-2 1.634e-2 Myoadenylate deaminase deficiency Myopathy 1 1 AMPD1 (2) 0.00877 0.50000 1.449e-2 1.610e-2 Chondromalacia Diverticulitis 1 0 ARHGAP15 (1) 0.02778 0.12500 1.446e-2 1.606e-2 Deafness-infertility syndrome Male infertility 1 1 CATSPER2 (4) 0.00885 0.50000 1.437e-2 1.595e-2 Deafness, sensorineural, and male infertility Male infertility 1 1 CATSPER2 (2) 0.00885 0.50000 1.437e-2 1.595e-2 Ataxia, spastic, autosomal recessive Keratoconus 1 1 KIF1C (3) 0.00885 0.50000 1.437e-2 1.595e-2 Hodgkin lymphoma Neuroocular syndrome 1 1 PRR12 (5) 0.00885 0.50000 1.437e-2 1.595e-2 Dyslexia Male infertility acephalic spermatozoa 1 1 PMFBP1 (2) 0.00885 0.50000 1.437e-2 1.595e-2 272 Keratoconus Malonic aciduria 1 1 MLYCD (7) 0.00885 0.50000 1.437e-2 1.595e-2 Keratoconus Pancreatic trypsinogen deficiency 1 0 TRB (1) 0.00885 0.50000 1.437e-2 1.595e-2 X-linked intellectual disability X-linked syndromic complex neurodevelopmental disorder 1 1 AP1S2 (3) 0.01299 0.33333 1.435e-2 1.594e-2 129 Developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome 1 1 KCNH5 (5) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy Hyperekplexia epilepsy syndrome 1 1 ARHGEF9 (5) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy intellectual developmental disorder 59 1 1 CAMK2G (3) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy Intellectual developmental disorder speech ambulation 1 1 ACTL6B (5) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy focal segmental glomerulosclerosis and neurodevelopmental syndrome 1 1 TRIM8 (3) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy frontotemporal dementia and/or amyotrophic lateral sclerosis 5 1 1 CCNF (2) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy Genetic generalized epilepsy 1 1 TNK2 (2) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy glycosylphosphatidylinositol biosynthesis defect 18 1 1 PIGS (3) 0.00452 1.00000 1.429e-2 1.587e-2 Cerebellar-facial-dental syndrome Developmental and epileptic encephalopathy 1 1 BRF1 (5) 0.00452 1.00000 1.429e-2 1.587e-2 Cervical dystonia Developmental and epileptic encephalopathy 1 1 CIZ1 (2) 0.00452 1.00000 1.429e-2 1.587e-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 1.587e-2 1q44 microdeletion syndrome Developmental and epileptic encephalopathy 1 1 HNRNPU (5) 0.00452 1.00000 1.429e-2 1.587e-2 6 Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 41 1 1 SLC1A2 (7) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 55 1 1 PIGP (6) 0.00452 1.00000 1.429e-2 1.587e-2 6 Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 77 1 1 PIGQ (5) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 80 1 1 PIGB (5) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy Developmental delay and seizures 1 1 DHDDS (5) 0.00452 1.00000 1.429e-2 1.587e-2 Developmental and epileptic encephalopathy DHDDS-CDG 1 1 DHDDS (4) 0.00452 1.00000 1.429e-2 1.587e-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 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 cardiomyopathy, dilated, 2f Psychiatric disorders 1 1 BAG5 (2) 0.00455 1.00000 1.422e-2 1.582e-2 75 GM3 synthase deficiency Psychiatric disorders 1 1 ST3GAL5 (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 Psychiatric disorders Salt and pepper developmental regression syndrome 1 1 ST3GAL5 (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 MEGF10-related myopathy Psychiatric disorders 1 1 MEGF10 (2) 0.00455 1.00000 1.422e-2 1.582e-2 Chromosomal disorder Clear cell renal cell carcinoma 1 0 GRB10 (1) 0.01695 0.25000 1.421e-2 1.581e-2 Cardiofacio-neurodevelopmental syndrome Gastric cancer 1 1 CCDC32 (5) 0.00457 1.00000 1.416e-2 1.575e-2 72 autoimmune lymphoproliferative syndrome type 2A Gastric cancer 1 1 CASP10 (3) 0.00457 1.00000 1.416e-2 1.575e-2 ehlers-danlos syndrome, musculocontractural type 1 Gastric cancer 1 1 CHST14 (2) 0.00457 1.00000 1.416e-2 1.575e-2 Gastric cancer microcornea-myopic chorioretinal atrophy 1 1 ADAMTS18 (2) 0.00457 1.00000 1.416e-2 1.575e-2 friedreich ataxia Gastric cancer 1 1 FXN (2) 0.00457 1.00000 1.416e-2 1.575e-2 72 Gastric cancer thrombotic disease 1 1 MAST2 (2) 0.00457 1.00000 1.416e-2 1.575e-2 72 Gastric cancer Vici syndrome 1 1 EPG5 (5) 0.00457 1.00000 1.416e-2 1.575e-2 Neuronal ceroid lipofuscinosis non-syndromic X-linked intellectual disability 1 1 SYP (3) 0.02632 0.14286 1.401e-2 1.559e-2 Cortical development malformation Spermatogenic failure, x-linked 1 1 CFAP47 (5) 0.02857 0.12500 1.395e-2 1.552e-2 Complex regional pain syndrome Sezary syndrome 1 1 RPS6KA1 (2) 0.02857 0.12500 1.395e-2 1.552e-2 Leigh syndrome Sandhoff disease 1 1 GFM2 (2) 0.00917 0.50000 1.385e-2 1.542e-2 62 Intellectual developmental disorder dysmorphic ptosis Male infertility single gene azoospermia 1 1 RPL10L (2) 0.00917 0.50000 1.385e-2 1.542e-2 Diencephalic mesencephalic junction dysplasia Motor neuron disease 1 1 GSX2 (4) 0.01351 0.33333 1.377e-2 1.533e-2 Central nervous system malformation Microcephaly 1 1 LMNB2 (5) 0.00926 0.50000 1.372e-2 1.528e-2 Microcephaly Thiamine metabolism dysfunction syndrome 1 1 SLC25A19 (3) 0.00926 0.50000 1.372e-2 1.528e-2 Bipolar depression Intellectual developmental disorder seizures speech 1 0 NTNG2 (1) 0.00935 0.50000 1.359e-2 1.514e-2 Brain ischemia Cystic fibrosis-related diabetes 1 1 CEBPB (3) 0.01370 0.33333 1.358e-2 1.512e-2 Growth disorder Tessadori-van haaften neurodevelopmental syndrome 1 1 H4C3 (5) 0.02439 0.16667 1.356e-2 1.510e-2 methylmalonic aciduria and homocystinuria Spinocerebellar ataxia 1 1 THAP11 (3) 0.00943 0.50000 1.346e-2 1.499e-2 Dopamine beta-hydroxy­lase deficiency Spinocerebellar ataxia 1 1 HSPA5 (2) 0.00943 0.50000 1.346e-2 1.499e-2 Chromosomal disorder Vascular disease 1 0 COBL (1) 0.01786 0.25000 1.344e-2 1.497e-2 Dermatologic disorder Paraquat lung disease 1 1 SKIL (2) 0.01408 0.33333 1.319e-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 Iga nephropathy leukemia, acute lymphoblastic, susceptibility to, 3 1 1 PAX5 (2) 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 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 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 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 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 Colonic neoplasms ITPKB deficiency 1 1 ITPKB (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 Hmg-coa synthase deficiency 1 1 HMGCS2 (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 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 Colonic neoplasms Congenital external auditory canal atresia 1 1 TSHZ1 (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 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 Autoimmune disease Autoinflammation and autoimmunity, systemic, with immune dysregulation 1 1 0 COPA (1) 0.00493 1.00000 1.312e-2 1.464e-2 Autoimmune disease Autoinflammation with pulmonary and cutaneous vasculitis 1 1 HCK (5) 0.00493 1.00000 1.312e-2 1.464e-2 47 Autoimmune disease Autoinflammation, immune dysregulation, and eosinophilia 1 1 JAK1 (5) 0.00493 1.00000 1.312e-2 1.464e-2 Autoimmune disease autosomal systemic lupus erythematosus type 16 1 1 DNASE1L3 (2) 0.00493 1.00000 1.312e-2 1.464e-2 Autoimmune disease combined immunodeficiency due to OX40 deficiency 1 1 TNFRSF4 (2) 0.00493 1.00000 1.312e-2 1.464e-2 Autoimmune disease syndromic multisystem autoimmune disease due to ITCH deficiency 1 1 ITCH (3) 0.00493 1.00000 1.312e-2 1.464e-2 Cardioembolic stroke Wiskott-aldrich syndrome 1 1 WIPF1 (6) 0.00971 0.50000 1.308e-2 1.460e-2 Congenital cataract hearing loss developmental delay syndrome Hereditary spastic paraplegia 1 1 SLC33A1 (2) 0.00971 0.50000 1.308e-2 1.460e-2 Ataxia, spastic, autosomal recessive Hereditary spastic paraplegia 1 1 KIF1C (2) 0.00971 0.50000 1.308e-2 1.460e-2 Baralle-macken syndrome Cataract 1 1 COPB1 (4) 0.00495 1.00000 1.305e-2 1.458e-2 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 Cataract Cataract-microcornea-metabolic syndrome 1 1 SLC16A12 (3) 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 Cataract Cataract-growth hormone deficiency-skeletal dysplasia syndrome 1 1 IARS2 (5) 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 Uterine benign neoplasm 1 0 BET1L (1) 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 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 Hyperbiliverdinemia 1 1 BLVRA (7) 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 Hirschsprung disease Hyperglycinuria 1 1 SLC6A20 (2) 0.01429 0.33333 1.300e-2 1.452e-2 Central hypoventilation syndrome Hirschsprung disease 1 1 PHOX2B (6) 0.01429 0.33333 1.300e-2 1.452e-2 331 Arginine vasopressin resistance Seasonal allergic rhinitis 1 1 AQP2 (2) 0.00980 0.50000 1.295e-2 1.447e-2 Adenoid cystic carcinoma Diaphragm disease 1 1 WNT5B (2) 0.00980 0.50000 1.295e-2 1.447e-2 Bladder calculus Oculopharyngodistal myopathy 1 1 GIPC1 (5) 0.02222 0.20000 1.292e-2 1.444e-2 Diaphragm disease Preeclampsia 1 0 WNT3A (1) 0.01000 0.50000 1.269e-2 1.418e-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 Celiac disease phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 1 PCK1 (3) 0.00515 1.00000 1.253e-2 1.401e-2 Celiac disease immunodeficiency 109 with lymphoproliferation 1 1 TNFRSF9 (3) 0.00515 1.00000 1.253e-2 1.401e-2 Celiac disease isolated sulfite oxidase deficiency 1 1 SUOX (2) 0.00515 1.00000 1.253e-2 1.401e-2 47 Acetyl-coa carboxylase deficiency Celiac disease 1 1 ACACA (2) 0.00515 1.00000 1.253e-2 1.401e-2 Beta-ureidopropionase deficiency Celiac disease 1 1 UPB1 (6) 0.00515 1.00000 1.253e-2 1.401e-2 Ataxia with oculomotor apraxia and hypoalbuminemia Peripheral neuropathy 1 1 APTX (2) 0.00518 1.00000 1.247e-2 1.394e-2 Axonal neuropathy with neuromyotonia Peripheral neuropathy 1 1 HINT1 (3) 0.00518 1.00000 1.247e-2 1.394e-2 Cataract-growth hormone deficiency-skeletal dysplasia syndrome Peripheral neuropathy 1 1 IARS2 (5) 0.00518 1.00000 1.247e-2 1.394e-2 Childhood-onset basal ganglia degeneration syndrome Peripheral neuropathy 1 1 VAC14 (3) 0.00518 1.00000 1.247e-2 1.394e-2 CNGB1-related retinopathy Peripheral neuropathy 1 1 CNGB1 (2) 0.00518 1.00000 1.247e-2 1.394e-2 Ectopic thyroid tissue Peripheral neuropathy 1 1 FBXO31 (2) 0.00518 1.00000 1.247e-2 1.394e-2 glycogen storage disease IXd Peripheral neuropathy 1 1 PHKA1 (2) 0.00518 1.00000 1.247e-2 1.394e-2 goldberg-shprintzen syndrome Peripheral neuropathy 1 1 KIFBP (2) 0.00518 1.00000 1.247e-2 1.394e-2 Circadian rhythm sleep disorder Hyperuricemia 1 0 CNTN5 (1) 0.01493 0.33333 1.242e-2 1.389e-2 Cystinuria Polycystic kidney disease 1 1 SLC7A9 (8) 0.01923 0.25000 1.241e-2 1.389e-2 Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome Willis-ekbom disease 1 1 MYSM1 (3) 0.00521 1.00000 1.240e-2 1.388e-2 Benign familial pemphigus Willis-ekbom disease 1 1 ATP2C1 (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 intellectual developmental disorder, autosomal dominant 65 Willis-ekbom disease 1 1 KDM4B (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 leukodystrophy, hypomyelinating, 22 Willis-ekbom disease 1 1 CLDN11 (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 3-methylcrotonyl-coa carboxylase deficiency Lewy body disease 1 1 MCCC1 (5) 0.01031 0.50000 1.230e-2 1.377e-2 Brugada syndrome Lipoyltransferase deficiency 1 1 LIPT2 (2) 0.01515 0.33333 1.222e-2 1.368e-2 Male infertility round headed spermatozoa Teratozoospermia 1 0 SPATA16 (1) 0.02941 0.14286 1.221e-2 1.367e-2 Corticobasal degeneration Progressive supranuclear palsy 1 1 MOBP (2) 0.02941 0.14286 1.221e-2 1.367e-2 Developmental delay with impaired growth and dysmorphic facies Mitral valve prolapse 1 1 SPTBN1 (5) 0.01961 0.25000 1.215e-2 1.361e-2 Amelocerebrohypohidrotic syndrome Fatty liver 1 1 SLC13A5 (4) 0.01053 0.50000 1.204e-2 1.348e-2 Pituitary stalk interruption syndrome Renal pelvis neoplasms 1 1 FANCA (2) 0.02703 0.16667 1.202e-2 1.346e-2 Huntington disease Salt-sensitive hypertension 1 1 ADD1 (2) 0.01563 0.33333 1.184e-2 1.326e-2 Intestinal vascular insufficiency Small cell lung carcinoma 1 0 NEDD9 (1) 0.01075 0.50000 1.179e-2 1.320e-2 IDH3B-related retinopathy Optic atrophy 1 1 IDH3B (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 joubert syndrome 21 Optic atrophy 1 1 CSPP1 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy RAB28-related retinopathy 1 1 RAB28 (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy retinitis pigmentosa 65 1 1 CDHR1 (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy retinitis pigmentosa 86 1 1 KIAA1549 (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy retinitis pigmentosa 9 1 1 RP9 (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy Retinitis pigmentosa and erythrocytic microcytosis 1 1 TRNT1 (5) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy Sideroblastic anemia with b-cell immunodeficiency 1 1 TRNT1 (5) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy TSPAN12-related exudative vitreoretinopathy 1 1 TSPAN12 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy Usher syndrome type 3 1 1 CLRN1 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Familial danish dementia Optic atrophy 1 1 ITM2B (2) 0.00549 1.00000 1.175e-2 1.316e-2 FDXR-related optic atrophy mitochondrial dysfunction syndrome Optic atrophy 1 1 FDXR (2) 0.00549 1.00000 1.175e-2 1.316e-2 Goldmann-favre syndrome Optic atrophy 1 1 NR2E3 (3) 0.00549 1.00000 1.175e-2 1.316e-2 GPR179-related retinopathy Optic atrophy 1 1 GPR179 (2) 0.00549 1.00000 1.175e-2 1.316e-2 LCA5-related retinopathy Optic atrophy 1 1 LCA5 (2) 0.00549 1.00000 1.175e-2 1.316e-2 leber-like hereditary optic neuropathy, autosomal recessive 1 Optic atrophy 1 1 DNAJC30 (2) 0.00549 1.00000 1.175e-2 1.316e-2 microcephaly and chorioretinopathy 1 Optic atrophy 1 1 TUBGCP6 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy PCARE-related retinopathy 1 1 PCARE (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy PDE6C-related retinopathy 1 1 PDE6C (2) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy PHARC syndrome 1 1 ABHD12 (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy phytanoyl-CoA hydroxylase deficiency 1 1 PHYH (2) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy Progressive myoclonic epilepsy with renal failure 1 1 SEMA6B (4) 0.00549 1.00000 1.175e-2 1.316e-2 GRM6-related retinopathy Optic atrophy 1 1 GRM6 (2) 0.00549 1.00000 1.175e-2 1.316e-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 1.316e-2 Optic atrophy optic atrophy 11 1 1 YME1L1 (7) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy optic atrophy 15 1 1 MCAT (6) 0.00549 1.00000 1.175e-2 1.316e-2 7 Optic atrophy optic atrophy 3 1 1 OPA3 (7) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy optic atrophy 9 1 1 ACO2 (7) 0.00549 1.00000 1.175e-2 1.316e-2 Optic atrophy ornithine aminotransferase deficiency 1 1 OAT (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 Abri amyloidosis Optic atrophy 1 1 ITM2B (2) 0.00549 1.00000 1.175e-2 1.316e-2 developmental and epileptic encephalopathy, 77 Optic atrophy 1 1 PIGQ (2) 0.00549 1.00000 1.175e-2 1.316e-2 dilated cardiomyopathy 2B Optic atrophy 1 1 GATAD1 (2) 0.00549 1.00000 1.175e-2 1.316e-2 enhanced s-cone syndrome Optic atrophy 1 1 NR2E3 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Bosch-boonstra-schaaf optic atrophy syndrome Optic atrophy 1 1 NR2F1 (6) 0.00549 1.00000 1.175e-2 1.316e-2 CACNA2D4-related retinopathy Optic atrophy 1 1 CACNA2D4 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Childhood-onset dystonia Optic atrophy 1 1 MECR (4) 0.00549 1.00000 1.175e-2 1.316e-2 Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Optic atrophy 1 1 MECR (5) 0.00549 1.00000 1.175e-2 1.316e-2 CNGA1-related retinopathy Optic atrophy 1 1 CNGA1 (2) 0.00549 1.00000 1.175e-2 1.316e-2 7 CNGB1-related retinopathy Optic atrophy 1 1 CNGB1 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Costeff optic atrophy syndrome Optic atrophy 1 1 OPA3 (7) 0.00549 1.00000 1.175e-2 1.316e-2 autosomal recessive optic atrophy, OPA7 type Optic atrophy 1 1 TMEM126A (8) 0.00549 1.00000 1.175e-2 1.316e-2 7 BBS7-related ciliopathy Optic atrophy 1 1 BBS7 (2) 0.00549 1.00000 1.175e-2 1.316e-2 Gestational diabetes Ochoa syndrome 1 1 HPSE2 (2) 0.01087 0.50000 1.166e-2 1.308e-2 Gestational diabetes Intellectual developmental disorder speech peripheral neuropathy 1 1 NEMF (5) 0.01087 0.50000 1.166e-2 1.308e-2 Gestational diabetes Urofacial syndrome 1 1 HPSE2 (5) 0.01087 0.50000 1.166e-2 1.308e-2 Microphthalmos Peripheral vertigo 1 1 ZNF91 (2) 0.02439 0.20000 1.164e-2 1.306e-2 Central vertigo Microphthalmos 1 1 ZNF91 (2) 0.02439 0.20000 1.164e-2 1.306e-2 Multiple system atrophy Renal pelvis neoplasms 1 0 MDGA2 (1) 0.02778 0.16667 1.163e-2 1.306e-2 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 phosphoenolpyruvate carboxykinase deficiency, cytosolic 1 1 PCK1 (2) 0.00556 1.00000 1.162e-2 1.305e-2 34 Congestive heart failure Yoon-bellen neurodevelopmental syndrome 1 1 OGDHL (3) 0.00556 1.00000 1.162e-2 1.305e-2 34 Congestive heart failure Hmg-coa synthase deficiency 1 1 HMGCS2 (4) 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 Charcot-Marie-Tooth disease type 4B2 Congestive heart failure 1 1 SBF2 (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 Acetyl-coa carboxylase deficiency Congestive heart failure 1 1 ACACA (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 Hemorrhoid Myoadenylate deaminase deficiency 1 0 AMPD3 (1) 0.01099 0.50000 1.153e-2 1.295e-2 optic atrophy 13 with retinal and foveal abnormalities Skin disease 1 1 SSBP1 (3) 0.00562 1.00000 1.149e-2 1.291e-2 16 Hypochromic sideroblastic anemia Skin disease 1 1 STEAP3 (6) 0.00562 1.00000 1.149e-2 1.291e-2 Intermittent porphyria Peripheral arterial disease 1 1 HMBS (3) 0.00562 1.00000 1.149e-2 1.291e-2 Juvenile absence epilepsy Peripheral arterial disease 1 1 EFHC1 (2) 0.00562 1.00000 1.149e-2 1.291e-2 Kindler epidermolysis bullosa Skin disease 1 1 FERMT1 (2) 0.00562 1.00000 1.149e-2 1.291e-2 kindler syndrome Skin disease 1 1 FERMT1 (2) 0.00562 1.00000 1.149e-2 1.291e-2 leukodystrophy, hypomyelinating, 18 Skin disease 1 1 DEGS1 (2) 0.00562 1.00000 1.149e-2 1.291e-2 Peripheral arterial disease perrault syndrome 3 1 1 CLPP (2) 0.00562 1.00000 1.149e-2 1.291e-2 COG6-congenital disorder of glycosylation Peripheral arterial disease 1 1 COG6 (2) 0.00562 1.00000 1.149e-2 1.291e-2 agammaglobulinemia 2, autosomal recessive Peripheral arterial disease 1 1 IGLL1 (2) 0.00562 1.00000 1.149e-2 1.291e-2 Congenital cerebellar hypoplasia Peripheral arterial disease 1 1 OXR1 (3) 0.00562 1.00000 1.149e-2 1.291e-2 Heterotaxy syndrome Ileocolitis 1 1 CFAP45 (5) 0.03333 0.12500 1.138e-2 1.279e-2 54 Growth disorder Uv-sensitive syndrome 1 1 ERCC6 (6) 0.02500 0.20000 1.132e-2 1.272e-2 Endometrial cancer friedreich ataxia 1 1 FXN (2) 0.00571 1.00000 1.130e-2 1.270e-2 72 Brain aneurysm Trimethylaminuria 1 1 FMO4 (2) 0.01124 0.50000 1.127e-2 1.267e-2 272 Deafness Worster drought syndrome 1 1 TMTC4 (2) 0.00578 1.00000 1.117e-2 1.256e-2 31 Congenital heart disease fibrodysplasia ossificans progressiva 1 1 ACVR1 (3) 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 Deafness reticular dysgenesis 1 1 AK2 (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 Congenital heart disease Pulmonary agenesis 1 1 EFNB2 (2) 0.00578 1.00000 1.117e-2 1.256e-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 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 Congenital heart disease El-hayek-chahrour neurodevelopmental syndrome 1 1 KDM5A (5) 0.00578 1.00000 1.117e-2 1.256e-2 41 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 Amelocerebrohypohidrotic syndrome Fatty liver, alcoholic 1 1 SLC13A5 (3) 0.01136 0.50000 1.114e-2 1.254e-2 MHC class II deficiency Nasopharyngeal neoplasms 1 1 CIITA (2) 0.02128 0.25000 1.112e-2 1.252e-2 Focal glomerulosclerosis Navajo neurohepatopathy 1 1 MPV17 (3) 0.01667 0.33333 1.106e-2 1.245e-2 Neutropenia Synovial sarcoma 1 1 SS18 (2) 0.01667 0.33333 1.106e-2 1.245e-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 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 Aplasia cutis-enamel dysplasia syndrome Oligoarticular juvenile idiopathic arthritis 1 1 FOSL2 (4) 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 cardiomyopathy, dilated, 2k Oligoarticular juvenile idiopathic arthritis 1 1 MYZAP (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 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 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 Cytosolic acetoacetyl-coa thiolase deficiency Ischemic heart disease 1 1 ACAT2 (2) 0.00585 1.00000 1.104e-2 1.243e-2 Iminoglycinuria Triple negative breast cancer 1 1 SLC6A18 (2) 0.02564 0.20000 1.099e-2 1.238e-2 Non-melanoma skin carcinoma Thrombocytopenia with anemia and myelofibrosis 1 1 MPIG6B (6) 0.00588 1.00000 1.098e-2 1.236e-2 hyper-IgE recurrent infection syndrome 3, autosomal recessive Non-melanoma skin carcinoma 1 1 ZNF341 (2) 0.00588 1.00000 1.098e-2 1.236e-2 16 Non-melanoma skin carcinoma pycnodysostosis 1 1 CTSK (2) 0.00588 1.00000 1.098e-2 1.236e-2 Craniofaciocardiohepatic syndrome Non-melanoma skin carcinoma 1 1 AMOTL1 (2) 0.00588 1.00000 1.098e-2 1.236e-2 Acromelic frontonasal dysostosis Non-melanoma skin carcinoma 1 1 ZSWIM6 (2) 0.00588 1.00000 1.098e-2 1.236e-2 16 Combined malonic and methylmalonic acidemia Non-melanoma skin carcinoma 1 1 ACSF3 (4) 0.00588 1.00000 1.098e-2 1.236e-2 Combined malonic and methylmalonic aciduria Non-melanoma skin carcinoma 1 1 ACSF3 (4) 0.00588 1.00000 1.098e-2 1.236e-2 Congenital corneal opacity Non-melanoma skin carcinoma 1 1 ZFHX4 (2) 0.00588 1.00000 1.098e-2 1.236e-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 complex hereditary spastic paraplegia Polyneuropathy 1 1 GBA2 (2) 0.03226 0.14286 1.086e-2 1.224e-2 Bone neoplasms Machado-joseph disease 1 0 THSD7B (1) 0.03448 0.12500 1.086e-2 1.224e-2 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 Thiamine-responsive encephalopathy 1 1 SLC19A3 (3) 0.00599 1.00000 1.078e-2 1.215e-2 Nephrotic syndrome Woolly hair-palmoplantar keratoderma syndrome 1 1 KANK2 (4) 0.00599 1.00000 1.078e-2 1.215e-2 20 Nephrotic syndrome X-linked nephrolithiasis 1 1 CLCN5 (2) 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 Nephrotic syndrome Ocular cystinosis 1 1 CTNS (4) 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 Biotin-thiamine-responsive basal ganglia disease Nephrotic syndrome 1 1 SLC19A3 (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 COG1-congenital disorder of glycosylation Nephrotic syndrome 1 1 COG1 (2) 0.00599 1.00000 1.078e-2 1.215e-2 ehlers-danlos syndrome, musculocontractural type 2 Nephrotic syndrome 1 1 DSE (2) 0.00599 1.00000 1.078e-2 1.215e-2 Carcinoma Chromosome 5q deletion syndrome 1 1 RPS14 (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 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 inherited glutathione synthetase deficiency 1 1 GSS (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 Hyperprolactinemia 1 1 PRLR (5) 0.00602 1.00000 1.072e-2 1.209e-2 Cirrhosis Necrosis 1 1 KRT18 (4) 0.01724 0.33333 1.068e-2 1.205e-2 63 Bronchopneumonia Peripheral vascular disease 1 0 SERTM1 (1) 0.02632 0.20000 1.067e-2 1.205e-2 Hyperpituitarism Mosaic variegated aneuploidy 1 1 MAD1L1 (5) 0.03846 0.09091 1.067e-2 1.204e-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 amyotrophic lateral sclerosis type 9 Diabetic retinopathy 1 1 ANG (2) 0.00606 1.00000 1.065e-2 1.202e-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 Chromosome 16p11.2 deletion syndrome Idiopathic pulmonary fibrosis 1 1 SFTPA1 (2) 0.01190 0.50000 1.062e-2 1.199e-2 Hemifacial microsomia Tooth agenesis 1 1 FOXI3 (2) 0.02222 0.25000 1.061e-2 1.198e-2 holocarboxylase synthetase deficiency Sarcoidosis 1 1 HLCS (2) 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 primary ciliary dyskinesia 19 Sarcoidosis 1 1 DNAAF11 (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 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 Cerebellar, ocular, craniofacial, and genital syndrome Obstructive sleep apnea syndrome 1 1 NBEA (2) 0.01205 0.50000 1.049e-2 1.186e-2 Brown-vialetto-van laere syndrome Obstructive sleep apnea syndrome 1 1 SLC52A3 (6) 0.01205 0.50000 1.049e-2 1.186e-2 Aortic valve disease Carey-fineman-ziter syndrome 1 1 MYMK (6) 0.01205 0.50000 1.049e-2 1.186e-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 Early onset epilepsy with developmental delay Psoriasis vulgaris 1 1 SETD1A (5) 0.01754 0.33333 1.048e-2 1.185e-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 Griscelli syndrome Peripheral nervous system disease 1 1 MYO5A (7) 0.01786 0.33333 1.029e-2 1.163e-2 Dent disease Thyroid disease 1 1 INPP5B (2) 0.01786 0.33333 1.029e-2 1.163e-2 Appendiceal disorder Central nervous system cancer 2 0 FFAR2 (1), KRTDAP (1) 0.00303 0.50000 1.027e-2 1.161e-2 2-methylbutyryl-coa dehydrogenase deficiency Periodontitis 1 1 ACADSB (5) 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 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 Hyperopia Trichotillomania 1 1 SLITRK1 (5) 0.01235 0.50000 1.024e-2 1.158e-2 262 Catel-manzke syndrome Hyperopia 1 1 KYNU (2) 0.01235 0.50000 1.024e-2 1.158e-2 Auditory neuropathy with optic atrophy Hyperopia 1 1 GRIN2C (2) 0.01235 0.50000 1.024e-2 1.158e-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 Coproporphyria Liver disease 1 0 CPOX (1) 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 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 friedreich ataxia 1 1 FXN (2) 0.00633 1.00000 1.020e-2 1.153e-2 72 Esophageal cancer glycosylphosphatidylinositol biosynthesis defect 21 1 1 PIGU (2) 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 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 Craniofacial abnormalities Pelviscapular dysplasia 1 1 TBX15 (5) 0.00637 1.00000 1.013e-2 1.147e-2 Orofacial cleft phytanoyl-CoA hydroxylase deficiency 1 1 PHYH (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 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 oligodontia-cancer predisposition syndrome Orofacial cleft 1 1 AXIN2 (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 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 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 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 Congenital corneal opacity Orofacial cleft 1 1 ZFHX4 (2) 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 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 15q11q13 microduplication syndrome Craniofacial abnormalities 1 1 UBE3A (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 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 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 Bradyopsia Large artery stroke 1 1 RGS9 (4) 0.01250 0.50000 1.011e-2 1.146e-2 Aicardi syndrome Large artery stroke 1 1 TEAD1 (2) 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 Large artery stroke Sveinsson chorioretinal atrophy 1 1 TEAD1 (4) 0.01250 0.50000 1.011e-2 1.146e-2 Cerebral atherosclerosis Posterior cortical atrophy 1 0 TENT5A (1) 0.04000 0.08333 1.009e-2 1.144e-2 Congenital disorder of deglycosylation Otosclerosis 1 1 MAN2C1 (5) 0.01852 0.33333 9.904e-3 1.123e-2 Male infertility globozoospermia Substance-induced psychosis 1 1 PICK1 (3) 0.03846 0.11111 9.895e-3 1.122e-2 Liver neoplasms Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1 1 EXOSC2 (5) 0.00654 1.00000 9.871e-3 1.120e-2 4 Genetic generalized epilepsy Liver neoplasms 1 1 TNK2 (2) 0.00654 1.00000 9.871e-3 1.120e-2 Liver neoplasms xeroderma pigmentosum group A 1 1 XPA (2) 0.00654 1.00000 9.871e-3 1.120e-2 Liver neoplasms xeroderma pigmentosum group C 1 1 XPC (2) 0.00654 1.00000 9.871e-3 1.120e-2 Liver neoplasms Pulmonary agenesis 1 1 EFNB2 (2) 0.00654 1.00000 9.871e-3 1.120e-2 4 Liver neoplasms Native american myopathy 1 1 STAC3 (3) 0.00654 1.00000 9.871e-3 1.120e-2 Liver neoplasms ornithine aminotransferase deficiency 1 1 OAT (2) 0.00654 1.00000 9.871e-3 1.120e-2 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Liver neoplasms 1 1 ASNS (2) 0.00654 1.00000 9.871e-3 1.120e-2 autosomal recessive osteopetrosis 8 Liver neoplasms 1 1 SNX10 (2) 0.00654 1.00000 9.871e-3 1.120e-2 Bailey-Bloch congenital myopathy Liver neoplasms 1 1 STAC3 (2) 0.00654 1.00000 9.871e-3 1.120e-2 Autonomic nervous system disease Inflammatory skin disease 1 0 ELMO1 (1) 0.01282 0.50000 9.847e-3 1.118e-2 14 Brody myopathy Hypogonadism 1 1 ATP2A1 (7) 0.01282 0.50000 9.847e-3 1.118e-2 58 Inflammatory skin disease Neutral lipid storage disease with ichthyosis 1 1 ABHD5 (3) 0.01282 0.50000 9.847e-3 1.118e-2 Intellectual disability Ververi-brady syndrome 1 1 QRICH1 (4) 0.01282 0.50000 9.847e-3 1.118e-2 Intellectual developmental disorder dysmorphic microcephaly Intellectual disability 1 1 COPB1 (2) 0.01282 0.50000 9.847e-3 1.118e-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 Colobomatous macrophthalmia microcornea syndrome Neuroblastoma 1 1 CRIM1 (2) 0.00658 1.00000 9.806e-3 1.113e-2 4 BARD1-related cancer predisposition Neuroblastoma 1 1 BARD1 (3) 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 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 spondyloepimetaphyseal dysplasia with joint laxity, type 3 1 1 EXOC6B (2) 0.00658 1.00000 9.806e-3 1.113e-2 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 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 thrombocytopenia 2 1 1 ANKRD26 (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 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 Brain abnormalities neurodegeneration dysosteosclerosis Myeloid leukemia 1 1 CSF1R (6) 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 agammaglobulinemia 10, autosomal dominant Myeloid leukemia 1 1 SPI1 (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 17q24.2 microdeletion syndrome Contact dermatitis 1 1 PSMD12 (3) 0.01299 0.50000 9.718e-3 1.105e-2 Contact dermatitis Degenerative polyarthritis 1 1 TLR8 (2) 0.01299 0.50000 9.718e-3 1.105e-2 Contact dermatitis White spongue nevus 1 1 KRT4 (6) 0.01299 0.50000 9.718e-3 1.105e-2 Contact dermatitis Lewis lung carcinoma 1 1 TXNRD1 (2) 0.01299 0.50000 9.718e-3 1.105e-2 46 15q11.2 microdeletion syndrome Lissencephaly 1 1 TUBG1 (3) 0.01887 0.33333 9.711e-3 1.104e-2 Choroidal melanoma Spondyloepimetaphyseal dysplasia 1 1 DDR2 (5) 0.03226 0.16667 9.704e-3 1.103e-2 Cone rod dystrophy and hearing loss Cone-rod dystrophy 1 1 CEP78 (6) 0.01316 0.50000 9.589e-3 1.090e-2 Cone-rod dystrophy Sveinsson chorioretinal atrophy 1 1 SEMA4A (6) 0.01316 0.50000 9.589e-3 1.090e-2 Esophageal neoplasms X-linked lymphoproliferative syndrome 1 1 XIAP (5) 0.01316 0.50000 9.589e-3 1.090e-2 Biliary cholangitis immunodeficiency 19 1 1 CD3D (2) 0.00676 1.00000 9.547e-3 1.086e-2 Biliary cholangitis Inner ear disease 1 0 CENPB (1) 0.00676 1.00000 9.547e-3 1.086e-2 288 Biliary cholangitis Childhood-onset sensorineural hearing impairment 1 1 PRORP (2) 0.00676 1.00000 9.547e-3 1.086e-2 complex hereditary spastic paraplegia Congenital anomalies of kidney and urinary tract 1 1 DSTYK (4) 0.03571 0.14286 9.510e-3 1.082e-2 Aica-ribosiduria Osteoporosis 1 1 ATIC (3) 0.00680 1.00000 9.482e-3 1.078e-2 Autoinflammation, antibody deficiency, and immune dysregulation Heart disease 1 1 PLCG2 (6) 0.00680 1.00000 9.482e-3 1.078e-2 Craniometadiaphyseal osteosclerosis with hip dysplasia Osteoporosis 1 1 AXIN1 (4) 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 Anxiety disorder Chylothorax 1 1 PKD1L1 (2) 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 Anxiety disorder Intermittent porphyria 1 1 HMBS (3) 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 PAX5-related B lymphopenia and autism spectrum disorder 1 1 PAX5 (2) 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 Hyaline fibromatosis Osteoporosis 1 1 ANTXR2 (5) 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 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 syndromic X-linked intellectual disability Snyder type 1 1 SMS (2) 0.00680 1.00000 9.482e-3 1.078e-2 Allergic contact dermatitis Cortisone reductase deficiency 1 1 HSD11B1 (5) 0.01333 0.50000 9.460e-3 1.077e-2 autoimmune lymphoproliferative syndrome type 2A Skin neoplasms 1 1 CASP10 (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 lessel-kreienkamp syndrome Mesothelioma 1 1 AGO2 (2) 0.00685 1.00000 9.417e-3 1.072e-2 Mesothelioma non-severe combined immunodeficiency due to COPG1 deficiency 1 1 COPG1 (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 Skin neoplasms xeroderma pigmentosum group A 1 1 XPA (2) 0.00685 1.00000 9.417e-3 1.072e-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 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 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 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 Eating disorder Hyperprolinemia 1 1 ALDH4A1 (7) 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 Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Eating disorder 1 1 ATP8A2 (3) 0.01351 0.50000 9.330e-3 1.063e-2 Cystine urolithiasis Polycystic kidney disease 1 0 SLC7A9 (1) 0.01961 0.33333 9.323e-3 1.063e-2 Developmental delay with impaired growth and dysmorphic facies Distal hereditary motor neuropathy 1 1 MORC2 (4) 0.02500 0.25000 9.320e-3 1.062e-2 Periprosthetic osteolysis Specific learning disability 1 1 OTUD7A (2) 0.04167 0.08333 9.315e-3 1.062e-2 Developmental disability Proximal renal tubular acidosis 1 1 SLC4A4 (5) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability PRPF8-related retinopathy 1 1 PRPF8 (2) 0.00694 1.00000 9.287e-3 1.059e-2 immunodeficiency-centromeric instability-facial anomalies syndrome 3 Multiple myeloma 1 1 CDCA7 (2) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability Intellectual developmental disorder dysmorphic 1 1 POU3F3 (2) 0.00694 1.00000 9.287e-3 1.059e-2 6 Developmental disability Intellectual developmental disorder short stature behavioral 1 1 IQSEC1 (4) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability intellectual developmental disorder, autosomal dominant 65 1 1 KDM4B (2) 0.00694 1.00000 9.287e-3 1.059e-2 joubert syndrome 30 Multiple myeloma 1 1 ARMC9 (2) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability spondyloepimetaphyseal dysplasia, genevieve type 1 1 NANS (3) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability syndromic X-linked intellectual disability Snyder type 1 1 SMS (2) 0.00694 1.00000 9.287e-3 1.059e-2 floating-harbor syndrome Multiple myeloma 1 1 SRCAP (2) 0.00694 1.00000 9.287e-3 1.059e-2 fraser syndrome 3 Multiple myeloma 1 1 GRIP1 (2) 0.00694 1.00000 9.287e-3 1.059e-2 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 1.059e-2 Developmental disability Helsmoortel-van der aa syndrome 1 1 ADNP (3) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability Hyperekplexia epilepsy syndrome 1 1 ARHGEF9 (2) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1 1 POLR2A (2) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 1 1 NARS1 (2) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 1 1 NARS1 (2) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 1 MAPK8IP3 (2) 0.00694 1.00000 9.287e-3 1.059e-2 6 Desanto-shinawi syndrome Multiple myeloma 1 1 WAC (6) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental delay with hypotonia and behavioral abnormalities Multiple myeloma 1 1 SRCAP (5) 0.00694 1.00000 9.287e-3 1.059e-2 Developmental disability Diets-jongmans syndrome 1 1 KDM3B (4) 0.00694 1.00000 9.287e-3 1.059e-2 15q11q13 microduplication syndrome Developmental disability 1 1 UBE3A (2) 0.00694 1.00000 9.287e-3 1.059e-2 basilicata-akhtar syndrome Developmental disability 1 1 MSL3 (3) 0.00694 1.00000 9.287e-3 1.059e-2 6 Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia Cholecystolithiasis 1 1 PSTPIP1 (2) 0.00699 1.00000 9.222e-3 1.053e-2 Cholecystolithiasis cone-rod dystrophy 20 1 1 POC1B (2) 0.00699 1.00000 9.222e-3 1.053e-2 239 Cleft palate psychomotor retardation distinctive facial features Non-small-cell lung carcinoma 1 1 KDM1A (3) 0.00699 1.00000 9.222e-3 1.053e-2 16p13.2 microdeletion syndrome Urinary bladder neoplasms 1 1 USP7 (2) 0.00699 1.00000 9.222e-3 1.053e-2 Adenylosuccinate lyase deficiency Cholecystolithiasis 1 1 ADSL (2) 0.00699 1.00000 9.222e-3 1.053e-2 239 Anus neoplasms Urinary bladder neoplasms 1 0 IFNB1 (1) 0.00699 1.00000 9.222e-3 1.053e-2 4 Cholecystolithiasis Corticosteroid-binding globulin deficiency 1 1 SERPINA6 (6) 0.00699 1.00000 9.222e-3 1.053e-2 Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome Urinary bladder neoplasms 1 1 BPTF (2) 0.00699 1.00000 9.222e-3 1.053e-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 1.053e-2 immunodeficiency 96 Urinary bladder neoplasms 1 1 LIG1 (2) 0.00699 1.00000 9.222e-3 1.053e-2 immunodeficiency, common variable, 5 Non-small-cell lung carcinoma 1 1 MS4A1 (2) 0.00699 1.00000 9.222e-3 1.053e-2 Cholecystolithiasis johanson-blizzard syndrome 1 1 UBR1 (2) 0.00699 1.00000 9.222e-3 1.053e-2 239 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 1.053e-2 Cholecystolithiasis Papa syndrome 1 1 PSTPIP1 (2) 0.00699 1.00000 9.222e-3 1.053e-2 Non-small-cell lung carcinoma Prognathism 1 1 ADAMTS1 (2) 0.00699 1.00000 9.222e-3 1.053e-2 Non-small-cell lung carcinoma Riddle syndrome 1 1 RNF168 (7) 0.00699 1.00000 9.222e-3 1.053e-2 hao-fountain syndrome Urinary bladder neoplasms 1 1 USP7 (2) 0.00699 1.00000 9.222e-3 1.053e-2 Maleylacetoacetate isomerase deficiency Urinary bladder neoplasms 1 1 GSTZ1 (5) 0.00699 1.00000 9.222e-3 1.053e-2 Cholecystolithiasis TRAF3 haploinsufficiency 1 1 TRAF3 (2) 0.00699 1.00000 9.222e-3 1.053e-2 Non-small-cell lung carcinoma Weiss-kruszka syndrome 1 1 ZNF462 (6) 0.00699 1.00000 9.222e-3 1.053e-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 1.053e-2 Non-small-cell lung carcinoma xeroderma pigmentosum group C 1 1 XPC (2) 0.00699 1.00000 9.222e-3 1.053e-2 Motor neuron disease X-linked lymphoproliferative syndrome 1 1 XIAP (5) 0.01370 0.50000 9.201e-3 1.052e-2 Focal facial dermal dysplasia Sjogren syndrome 1 1 TWIST2 (6) 0.01370 0.50000 9.201e-3 1.052e-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 1.052e-2 Chylomicron retention disease Ciliopathy 1 1 DCDC2 (3) 0.01370 0.50000 9.201e-3 1.052e-2 combined immunodeficiency due to DOCK8 deficiency Nonsyndromic intellectual disability 1 1 DOCK8 (4) 0.00704 1.00000 9.157e-3 1.047e-2 Congenital cataract microcephaly intellectual disability syndrome Nonsyndromic intellectual disability 1 1 MED25 (4) 0.00704 1.00000 9.157e-3 1.047e-2 congenital disorder of glycosylation, type iit Hyperlipidemia 1 1 GALNT2 (2) 0.00704 1.00000 9.157e-3 1.047e-2 57 autosomal recessive nonsyndromic hearing loss 63 Nonsyndromic intellectual disability 1 1 LRTOMT (3) 0.00704 1.00000 9.157e-3 1.047e-2 Beta-ketothiolase deficiency Seizures 1 1 ACAT1 (4) 0.00704 1.00000 9.157e-3 1.047e-2 Beukes hip dysplasia Nonsyndromic intellectual disability 1 1 UFSP2 (3) 0.00704 1.00000 9.157e-3 1.047e-2 developmental and epileptic encephalopathy, 77 Seizures 1 1 PIGQ (2) 0.00704 1.00000 9.157e-3 1.047e-2 223 Ectopic thyroid tissue Nonsyndromic intellectual disability 1 1 FBXO31 (3) 0.00704 1.00000 9.157e-3 1.047e-2 Cranio-cervical dystonia Seizures 1 1 ANO3 (3) 0.00704 1.00000 9.157e-3 1.047e-2 Al-raqad syndrome Nonsyndromic intellectual disability 1 1 DCPS (2) 0.00704 1.00000 9.157e-3 1.047e-2 6 Anus neoplasms Seizures 1 0 IFNB1 (1) 0.00704 1.00000 9.157e-3 1.047e-2 Apolipoprotein a5 deficiency Hyperlipidemia 1 1 APOA5 (3) 0.00704 1.00000 9.157e-3 1.047e-2 57 Apolipoprotein c-ii deficiency Hyperlipidemia 1 1 APOC2 (5) 0.00704 1.00000 9.157e-3 1.047e-2 Epilepsy due to perinatal stroke Nonsyndromic intellectual disability 1 1 ST3GAL3 (2) 0.00704 1.00000 9.157e-3 1.047e-2 Gastroschisis Hyperlipidemia 1 0 ADD1 (1) 0.00704 1.00000 9.157e-3 1.047e-2 Nonsyndromic intellectual disability Progressive myoclonic epilepsy with renal failure 1 1 SEMA6B (5) 0.00704 1.00000 9.157e-3 1.047e-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 1.047e-2 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction Nonsyndromic intellectual disability 1 1 GEMIN5 (3) 0.00704 1.00000 9.157e-3 1.047e-2 neurodevelopmental disorder with microcephaly, ataxia, and seizures Nonsyndromic intellectual disability 1 1 SARS1 (4) 0.00704 1.00000 9.157e-3 1.047e-2 nizon-isidor syndrome Nonsyndromic intellectual disability 1 1 MED12L (3) 0.00704 1.00000 9.157e-3 1.047e-2 Hyperlipidemia immunodeficiency 53 1 1 RELB (2) 0.00704 1.00000 9.157e-3 1.047e-2 Intellectual developmental disorder dysmorphic brain Nonsyndromic intellectual disability 1 1 TRAPPC9 (4) 0.00704 1.00000 9.157e-3 1.047e-2 Intellectual developmental disorder growth other organ Nonsyndromic intellectual disability 1 1 PPM1D (2) 0.00704 1.00000 9.157e-3 1.047e-2 Intellectual developmental disorder growth seizures Nonsyndromic intellectual disability 1 1 ABCA2 (4) 0.00704 1.00000 9.157e-3 1.047e-2 Intellectual developmental disorder neuropsychiatric Nonsyndromic intellectual disability 1 1 SLC45A1 (5) 0.00704 1.00000 9.157e-3 1.047e-2 Intellectual developmental disorder seizures language Nonsyndromic intellectual disability 1 1 SETD1B (4) 0.00704 1.00000 9.157e-3 1.047e-2 Intellectual developmental disorder short stature behavioral Nonsyndromic intellectual disability 1 1 IQSEC1 (4) 0.00704 1.00000 9.157e-3 1.047e-2 MAN1B1-congenital disorder of glycosylation Nonsyndromic intellectual disability 1 1 MAN1B1 (4) 0.00704 1.00000 9.157e-3 1.047e-2 Hyperlipidemia Saccharopinuria 1 1 AASS (7) 0.00704 1.00000 9.157e-3 1.047e-2 Seizures seizures, early-onset, with neurodegeneration and brain calcifications 1 1 NRROS (5) 0.00704 1.00000 9.157e-3 1.047e-2 223 Hyperlipidemia hyperlysinemia 1 1 AASS (7) 0.00704 1.00000 9.157e-3 1.047e-2 hypomyelinating leukodystrophy 3 Nonsyndromic intellectual disability 1 1 AIMP1 (4) 0.00704 1.00000 9.157e-3 1.047e-2 Neoplasms Paraquat lung disease 1 1 SMAD7 (3) 0.02000 0.33333 9.130e-3 1.045e-2 Congenital disorder of deglycosylation Hypogonadotropic hypogonadism 1 1 MAN2C1 (5) 0.02000 0.33333 9.130e-3 1.045e-2 Carpenter syndrome Gastrointestinal stromal tumor 1 1 RAB23 (5) 0.02000 0.33333 9.130e-3 1.045e-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 Bulimia Graft versus host disease 1 0 PCDH7 (1) 0.03704 0.14286 9.058e-3 1.038e-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 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 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 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 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 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 Immunodeficiency TRAF3 haploinsufficiency 1 1 TRAF3 (3) 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 Immunodeficiency Natural killer cell deficiency 1 1 MCM4 (3) 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 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 renal hypomagnesemia 3 Thrombocytopenia 1 1 CLDN16 (2) 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 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 31b 1 1 STAT1 (6) 0.00714 1.00000 9.027e-3 1.034e-2 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 Immunodeficiency Intellectual developmental disorder dysmorphic skeletal hair 1 1 BCL11B (5) 0.00714 1.00000 9.027e-3 1.034e-2 Immunodeficiency Intellectual developmental disorder speech dysmorphic t-cell 1 1 BCL11B (6) 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 Cholelithiasis mednik syndrome 1 1 AP1S1 (2) 0.00714 1.00000 9.027e-3 1.034e-2 135 Immunodeficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 1 1 STAT1 (6) 0.00714 1.00000 9.027e-3 1.034e-2 Immunodeficiency Mucosa-associated lymphoma 1 1 BCL10 (6) 0.00714 1.00000 9.027e-3 1.034e-2 Autoimmune enteropathy and endocrinopathy Immunodeficiency 1 1 STAT1 (6) 0.00714 1.00000 9.027e-3 1.034e-2 Autoinflammation, panniculitis, and dermatosis syndrome Immunodeficiency 1 1 OTULIN (7) 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 cardiomyopathy, dilated, 2e Pelvic organ prolapse 1 1 JPH2 (2) 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 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 Aplasia and myelodysplasia Cholelithiasis 1 1 SRP72 (4) 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 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 congenital disorder of glycosylation type II Immunodeficiency 1 1 ATP6AP1 (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 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 Colorectal adenoma Enteropathy 1 1 SLCO2A1 (3) 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 Cole-carpenter syndrome Retinal detachment 1 1 CRTAP (3) 0.02041 0.33333 8.936e-3 1.031e-2 Parenchymal hematoma Skeletal dysplasia 1 1 SEMA3A (2) 0.03448 0.16667 8.930e-3 1.030e-2 Appendiceal disorder Glioblastoma 2 0 FFAR2 (1), KRTDAP (1) 0.00328 0.50000 8.829e-3 1.019e-2 Ataxia, spastic, autosomal recessive Combined oxidative phosphorylation deficiency 1 1 MARS2 (6) 0.01429 0.50000 8.813e-3 1.017e-2 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 Combined oxidative phosphorylation deficiency Sandhoff disease 1 1 GFM2 (5) 0.01429 0.50000 8.813e-3 1.017e-2 62 friedreich ataxia Non-hodgkins lymphoma 1 1 FXN (2) 0.00735 1.00000 8.767e-3 1.012e-2 72 glycosylphosphatidylinositol biosynthesis defect 21 Non-hodgkins lymphoma 1 1 PIGU (2) 0.00735 1.00000 8.767e-3 1.012e-2 autosomal agammaglobulinemia Non-hodgkins lymphoma 1 1 TCF3 (2) 0.00735 1.00000 8.767e-3 1.012e-2 Chromosome 20q11-q12 deletion syndrome Non-hodgkins lymphoma 1 1 EPB41L1 (3) 0.00735 1.00000 8.767e-3 1.012e-2 Galactosialidosis Non-immune hydrops fetalis 1 1 CTSA (4) 0.02083 0.33333 8.742e-3 1.009e-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 Irritable bowel syndrome polycystic kidney disease 3 with or without polycystic liver disease 1 1 GANAB (2) 0.00741 1.00000 8.702e-3 1.005e-2 Irritable bowel syndrome nizon-isidor syndrome 1 1 MED12L (2) 0.00741 1.00000 8.702e-3 1.005e-2 Macular degeneration Microphthalmia with retinitis pigmentosa and ocular anomalies 1 1 C1QTNF5 (2) 0.01449 0.50000 8.684e-3 1.003e-2 Camos syndrome Hirschsprung disease 1 1 ZNF592 (2) 0.01449 0.50000 8.684e-3 1.003e-2 Carbohydrate deficient glycoprotein syndrome Hirschsprung disease 1 0 TMEM165 (1) 0.01449 0.50000 8.684e-3 1.003e-2 Autonomic nervous system disease Hirschsprung disease 1 1 ECE1 (5) 0.01449 0.50000 8.684e-3 1.003e-2 Cerebrofacial arteriovenous metameric syndrome Myopia 1 0 GNA14 (1) 0.00746 1.00000 8.637e-3 9.975e-3 Congenital ichthyosis with hypotrichosis syndrome Myopia 1 0 ST14 (1) 0.00746 1.00000 8.637e-3 9.975e-3 Bone marrow failure and diabetes mellitus syndrome Myopia 1 1 DUT (4) 0.00746 1.00000 8.637e-3 9.975e-3 262 cardiomyopathy, dilated, 2j Myopia 1 1 FLII (2) 0.00746 1.00000 8.637e-3 9.975e-3 262 Myopia neurodevelopmental disorder with or without seizures and gait abnormalities 1 1 GRIA4 (3) 0.00746 1.00000 8.637e-3 9.975e-3 262 Myopia Rothmund-Thomson syndrome type 1 1 1 ANAPC1 (2) 0.00746 1.00000 8.637e-3 9.975e-3 glycogen storage disease V Myopia 1 1 PYGM (2) 0.00746 1.00000 8.637e-3 9.975e-3 Myopia Uridine-cytidineuria 1 1 SLC28A1 (3) 0.00746 1.00000 8.637e-3 9.975e-3 hartnup disease Myopia 1 1 SLC6A19 (2) 0.00746 1.00000 8.637e-3 9.975e-3 Blepharoptosis Corticobasal degeneration 1 1 SOS1 (2) 0.03846 0.14286 8.607e-3 9.945e-3 49 Charcot-marie-tooth disease Charcot-Marie-Tooth disease axonal type 2CC 1 1 NEFH (5) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease Charcot-Marie-Tooth disease type 4B2 1 1 SBF2 (7) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease Charcot-Marie-tooth disease, axonal, type 2DD 1 1 ATP1A1 (6) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease Charcot-Marie-Tooth disease, axonal, type 2FF 1 1 CADM3 (5) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease Charcot-Marie-Tooth disease, demyelinating, type 1J 1 1 ITPR3 (5) 0.00752 1.00000 8.573e-3 9.905e-3 Axonal neuropathy with neuromyotonia Charcot-marie-tooth disease 1 1 HINT1 (5) 0.00752 1.00000 8.573e-3 9.905e-3 Bilateral congenital vertical talus Charcot-marie-tooth disease 1 1 HOXD10 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome Endometrial neoplasms 1 1 BPTF (2) 0.00752 1.00000 8.573e-3 9.905e-3 Developmental delay with hypotonia and impaired language Endometrial neoplasms 1 1 FBXW7 (5) 0.00752 1.00000 8.573e-3 9.905e-3 colorectal cancer, hereditary nonpolyposis, type 7 Endometrial neoplasms 1 1 MLH3 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease Congenital cataract microcephaly intellectual disability syndrome 1 1 MED25 (6) 0.00752 1.00000 8.573e-3 9.905e-3 Congenital external auditory canal atresia Endometrial neoplasms 1 1 TSHZ1 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Congenital hereditary facial paralysis with variable hearing loss syndrome Endometrial neoplasms 1 1 HOXB1 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Congenital lipoid adrenal hyperplasia Endometrial neoplasms 1 1 STAR (5) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease hereditary spastic paraplegia 11 1 1 SPG11 (7) 0.00752 1.00000 8.573e-3 9.905e-3 Endometrial neoplasms fructose-1,6-bisphosphatase deficiency 1 1 FBP1 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease nephrotic syndrome 14 1 1 SGPL1 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease neuronopathy, distal hereditary motor, autosomal recessive 5 1 1 DNAJB2 (5) 0.00752 1.00000 8.573e-3 9.905e-3 13 Charcot-marie-tooth disease neuropathy, hereditary sensory and autonomic, type 1A 1 1 SPTLC1 (3) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease neuropathy, hereditary sensory and autonomic, type 1C 1 1 SPTLC2 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease neuropathy, hereditary sensory, type 1F 1 1 ATL3 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease Riley-day syndrome 1 1 ELP1 (3) 0.00752 1.00000 8.573e-3 9.905e-3 Endometrial neoplasms Serrated polyposis 1 1 RNF43 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Endometrial neoplasms sessile serrated polyposis cancer syndrome 1 1 RNF43 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Endometrial neoplasms spinocerebellar ataxia, autosomal recessive 23 1 1 TDP2 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease Vertical talus 1 1 HOXD10 (3) 0.00752 1.00000 8.573e-3 9.905e-3 Charcot-marie-tooth disease X-linked hereditary motor and sensory neuropathy 1 1 DRP2 (3) 0.00752 1.00000 8.573e-3 9.905e-3 13 Charcot-marie-tooth disease PHARC syndrome 1 1 ABHD12 (2) 0.00752 1.00000 8.573e-3 9.905e-3 Hereditary motor and sensory neuropathies Peho syndrome 1 1 KIF1A (2) 0.01471 0.50000 8.554e-3 9.899e-3 Cerebellar, ocular, craniofacial, and genital syndrome Interstitial lung disease 1 1 NBEA (2) 0.01471 0.50000 8.554e-3 9.899e-3 Cerebellar, ocular, craniofacial, and genital syndrome Urinary bladder cancer 1 1 NBEA (2) 0.01471 0.50000 8.554e-3 9.899e-3 Chromosome 16p11.2 deletion syndrome Interstitial lung disease 1 1 SFTPA1 (5) 0.01471 0.50000 8.554e-3 9.899e-3 Hypoxia Very long chain acyl-coa dehydrogenase deficiency 1 1 ACADVL (6) 0.02703 0.25000 8.546e-3 9.892e-3 complex neurodevelopmental disorder with motor features Dysarthria 1 1 KMT2B (2) 0.03571 0.16667 8.543e-3 9.889e-3 craniosynostosis and dental anomalies Ovarian neoplasms 1 1 IL11RA (2) 0.00758 1.00000 8.508e-3 9.848e-3 Brunet-wagner neurodevelopmental syndrome Ovarian neoplasms 1 1 RBL2 (5) 0.00758 1.00000 8.508e-3 9.848e-3 Ovarian neoplasms X-linked dominant chondrodysplasia chassaing-lacombe type 1 1 HDAC6 (5) 0.00758 1.00000 8.508e-3 9.848e-3 extraoral halitosis due to methanethiol oxidase deficiency Ovarian neoplasms 1 1 SELENBP1 (2) 0.00758 1.00000 8.508e-3 9.848e-3 4 familial ovarian cancer Ovarian neoplasms 1 1 BRIP1 (2) 0.00758 1.00000 8.508e-3 9.848e-3 fanconi anemia complementation group j Ovarian neoplasms 1 1 BRIP1 (2) 0.00758 1.00000 8.508e-3 9.848e-3 Ovarian neoplasms RAD51D-related cancer predisposition 1 1 RAD51D (2) 0.00758 1.00000 8.508e-3 9.848e-3 cardiomyopathy, dilated, 2k Juvenile arthritis 1 1 MYZAP (2) 0.00763 1.00000 8.443e-3 9.777e-3 320 combined immunodeficiency due to moesin deficiency Juvenile arthritis 1 1 MSN (2) 0.00763 1.00000 8.443e-3 9.777e-3 Aplasia cutis-enamel dysplasia syndrome Juvenile arthritis 1 1 FOSL2 (5) 0.00763 1.00000 8.443e-3 9.777e-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 9.777e-3 Enamel-renal syndrome Juvenile arthritis 1 1 FAM20A (2) 0.00763 1.00000 8.443e-3 9.777e-3 15q13.3 microdeletion syndrome Generalized epilepsy 1 1 CHRNA7 (5) 0.01493 0.50000 8.425e-3 9.759e-3 amyotrophic lateral sclerosis type 18 Esophageal squamous cell carcinoma 1 1 PFN1 (2) 0.00769 1.00000 8.378e-3 9.705e-3 4 Developmental delay with hypotonia and impaired language Esophageal squamous cell carcinoma 1 1 FBXW7 (5) 0.00769 1.00000 8.378e-3 9.705e-3 Esophageal squamous cell carcinoma Sebocystomatosis 1 1 KRT17 (3) 0.00769 1.00000 8.378e-3 9.705e-3 Esophageal squamous cell carcinoma lethal occipital encephalocele-skeletal dysplasia syndrome 1 1 CYP26B1 (2) 0.00769 1.00000 8.378e-3 9.705e-3 Griscelli syndrome Nystagmus 1 1 MYO5A (7) 0.02174 0.33333 8.355e-3 9.681e-3 HELIOS deficiency Systemic sclerosis 1 1 IKZF2 (2) 0.00775 1.00000 8.313e-3 9.633e-3 hermansky-pudlak syndrome 6 Vascular dementia 1 1 HPS6 (2) 0.00775 1.00000 8.313e-3 9.633e-3 microcephalic osteodysplastic primordial dwarfism type II Vascular dementia 1 1 PCNT (2) 0.00775 1.00000 8.313e-3 9.633e-3 thrombocytopenia 3 Vascular dementia 1 1 FYB1 (2) 0.00775 1.00000 8.313e-3 9.633e-3 netherton syndrome Vascular dementia 1 1 SPINK5 (2) 0.00775 1.00000 8.313e-3 9.633e-3 Familial danish dementia Vascular dementia 1 1 ITM2B (2) 0.00775 1.00000 8.313e-3 9.633e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Vascular dementia 1 1 CHMP2B (2) 0.00775 1.00000 8.313e-3 9.633e-3 Biliary cirrhosis immunodeficiency 19 1 1 CD3D (2) 0.00775 1.00000 8.313e-3 9.633e-3 immunodeficiency, common variable, 7 Systemic sclerosis 1 1 CR2 (2) 0.00775 1.00000 8.313e-3 9.633e-3 Biliary cirrhosis Inner ear disease 1 0 CENPB (1) 0.00775 1.00000 8.313e-3 9.633e-3 288 Proximal renal tubular acidosis Vascular dementia 1 1 SLC4A4 (3) 0.00775 1.00000 8.313e-3 9.633e-3 Biliary cirrhosis Digital clubbing, isolated congenital 1 1 HPGD (2) 0.00775 1.00000 8.313e-3 9.633e-3 dilated cardiomyopathy 1V Vascular dementia 1 1 PSEN2 (2) 0.00775 1.00000 8.313e-3 9.633e-3 Biliary cirrhosis Childhood-onset sensorineural hearing impairment 1 1 PRORP (2) 0.00775 1.00000 8.313e-3 9.633e-3 Choreoacanthocytosis Vascular dementia 1 1 VPS13A (3) 0.00775 1.00000 8.313e-3 9.633e-3 Abri amyloidosis Vascular dementia 1 1 ITM2B (2) 0.00775 1.00000 8.313e-3 9.633e-3 amyotrophic lateral sclerosis type 15 Vascular dementia 1 1 UBQLN2 (2) 0.00775 1.00000 8.313e-3 9.633e-3 anterior segment dysgenesis 7 Systemic sclerosis 1 1 PXDN (2) 0.00775 1.00000 8.313e-3 9.633e-3 Ataxia-pancytopenia syndrome Systemic sclerosis 1 1 SAMD9L (5) 0.00775 1.00000 8.313e-3 9.633e-3 autosomal systemic lupus erythematosus type 16 Systemic sclerosis 1 1 DNASE1L3 (2) 0.00775 1.00000 8.313e-3 9.633e-3 22 Beukes hip dysplasia Systemic sclerosis 1 1 UFSP2 (2) 0.00775 1.00000 8.313e-3 9.633e-3 Congenital small-platelet thrombocytopenia Vascular dementia 1 1 FYB1 (3) 0.00775 1.00000 8.313e-3 9.633e-3 Biliary cirrhosis Cranioosteoarthropathy 1 1 HPGD (4) 0.00775 1.00000 8.313e-3 9.633e-3 Hyperuricemia Infantile liver failure 1 1 SCYL1 (2) 0.01515 0.50000 8.296e-3 9.625e-3 Azoospermia Cryptospermia 1 0 DMC1 (1) 0.02778 0.25000 8.288e-3 9.616e-3 Chromosomal instability Lymphedema 1 1 KIF11 (2) 0.04167 0.12500 8.284e-3 9.613e-3 Charcot-Marie-Tooth disease, demyelinating, type 1J Vitiligo 1 1 ITPR3 (2) 0.00787 1.00000 8.183e-3 9.496e-3 309 developmental and epileptic encephalopathy, 41 Vitiligo 1 1 SLC1A2 (2) 0.00787 1.00000 8.183e-3 9.496e-3 isolated sulfite oxidase deficiency Vitiligo 1 1 SUOX (2) 0.00787 1.00000 8.183e-3 9.496e-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 9.478e-3 Congenital vertical talus Mouth neoplasms 1 1 HOXD10 (5) 0.01538 0.50000 8.166e-3 9.478e-3 17 alpha-hydroxyprogesterone aldolase deficiency Carpal tunnel syndrome 1 1 AKR1C2 (2) 0.01538 0.50000 8.166e-3 9.478e-3 Congenital disorder of deglycosylation Hyperinsulinism 1 1 NEIL1 (2) 0.02222 0.33333 8.161e-3 9.474e-3 Brain disease Carnitine palmitoyltransferase deficiency 1 1 CPT2 (8) 0.02222 0.33333 8.161e-3 9.474e-3 Dent disease Proteinuria 1 1 CLCN5 (7) 0.02222 0.33333 8.161e-3 9.474e-3 Diencephalic mesencephalic junction dysplasia Lupus nephritis 1 1 GSX2 (5) 0.02222 0.33333 8.161e-3 9.474e-3 Navajo neurohepatopathy Proteinuria 1 1 MPV17 (3) 0.02222 0.33333 8.161e-3 9.474e-3 Hypertryptophanemia Psychotic disorders 1 1 TDO2 (6) 0.00794 1.00000 8.118e-3 9.426e-3 microcephalic osteodysplastic primordial dwarfism type II Psychotic disorders 1 1 PCNT (2) 0.00794 1.00000 8.118e-3 9.426e-3 Intellectual disability, anterior maxillary protrusion, and strabismus Psychotic disorders 1 1 SOBP (2) 0.00794 1.00000 8.118e-3 9.426e-3 pediatric systemic lupus erythematosus Psychotic disorders 1 1 SAT1 (2) 0.00794 1.00000 8.118e-3 9.426e-3 phelan-mcdermid syndrome Psychotic disorders 1 1 SHANK3 (2) 0.00794 1.00000 8.118e-3 9.426e-3 extraoral halitosis due to methanethiol oxidase deficiency Psychotic disorders 1 1 SELENBP1 (2) 0.00794 1.00000 8.118e-3 9.426e-3 Congenital brain dysgenesis due to glutamine synthetase deficiency Psychotic disorders 1 1 GLUL (5) 0.00794 1.00000 8.118e-3 9.426e-3 Anterior maxillary protrusion-strabismus-intellectual disability syndrome Psychotic disorders 1 1 SOBP (2) 0.00794 1.00000 8.118e-3 9.426e-3 Benign essential blepharospasm Psychotic disorders 1 1 DRD5 (2) 0.00794 1.00000 8.118e-3 9.426e-3 Blepharospasm Psychotic disorders 1 1 DRD5 (3) 0.00794 1.00000 8.118e-3 9.426e-3 cardiomyopathy, dilated, 2g Psychotic disorders 1 1 LMOD2 (2) 0.00794 1.00000 8.118e-3 9.426e-3 cone-rod dystrophy 20 Gallstones 1 1 POC1B (2) 0.00800 1.00000 8.053e-3 9.356e-3 239 Gallstones TRAF3 haploinsufficiency 1 1 TRAF3 (2) 0.00800 1.00000 8.053e-3 9.356e-3 Gallstones Urban-schosser-spohr syndrome 1 1 SREBF1 (2) 0.00800 1.00000 8.053e-3 9.356e-3 Gallstones VPS11-related neurological disorder 1 1 VPS11 (2) 0.00800 1.00000 8.053e-3 9.356e-3 Gallstones Mucoepithelial dysplasia 1 1 SREBF1 (2) 0.00800 1.00000 8.053e-3 9.356e-3 Gallstones Intestinal dysmotility syndrome 1 1 ANO1 (4) 0.00800 1.00000 8.053e-3 9.356e-3 Gallstones johanson-blizzard syndrome 1 1 UBR1 (2) 0.00800 1.00000 8.053e-3 9.356e-3 239 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 Pachyonychia congenita Seborrheic keratosis 1 1 KRT6A (7) 0.02857 0.25000 8.029e-3 9.334e-3 Developmental delay with impaired growth and dysmorphic facies Distal spinal muscular atrophy 1 1 MORC2 (4) 0.02857 0.25000 8.029e-3 9.334e-3 Thoracic aortic aneurysm and aortic dissection Throat disease 1 1 GATA5 (2) 0.02273 0.33333 7.967e-3 9.263e-3 Huntington disease Rib fracture 1 0 TENM2 (1) 0.01587 0.50000 7.908e-3 9.194e-3 Myositis Neuroocular syndrome 1 1 PRR12 (5) 0.01587 0.50000 7.908e-3 9.194e-3 22 Peptic ulcer disease Riboflavin deficiency 1 1 SLC52A1 (4) 0.00820 1.00000 7.858e-3 9.137e-3 Peptic ulcer disease short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 1 1 SLC10A7 (2) 0.00820 1.00000 7.858e-3 9.137e-3 Epilepsy due to perinatal stroke Peptic ulcer disease 1 1 ST3GAL3 (2) 0.00820 1.00000 7.858e-3 9.137e-3 hermansky-pudlak syndrome 8 Peptic ulcer disease 1 1 BLOC1S3 (2) 0.00820 1.00000 7.858e-3 9.137e-3 maternal riboflavin deficiency Peptic ulcer disease 1 1 SLC52A1 (2) 0.00820 1.00000 7.858e-3 9.137e-3 Muggenthaler-chowdhury-chioza syndrome Peptic ulcer disease 1 1 HYAL2 (3) 0.00820 1.00000 7.858e-3 9.137e-3 cone-rod dystrophy 20 Peptic ulcer disease 1 1 POC1B (2) 0.00820 1.00000 7.858e-3 9.137e-3 CERKL-related retinopathy Peptic ulcer disease 1 1 CERKL (2) 0.00820 1.00000 7.858e-3 9.137e-3 Cernunnos-XLF deficiency Peptic ulcer disease 1 1 NHEJ1 (2) 0.00820 1.00000 7.858e-3 9.137e-3 Chromosome 12p deletion syndrome Peptic ulcer disease 1 1 ERC1 (3) 0.00820 1.00000 7.858e-3 9.137e-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 9.137e-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 Congenital cataract Congenital lamellar cataract 1 1 HSF4 (2) 0.01613 0.50000 7.778e-3 9.067e-3 51 Brachydactyly-elbow wrist dysplasia syndrome Testicular carcinoma 1 1 PITX1 (3) 0.01613 0.50000 7.778e-3 9.067e-3 Aortic stenosis Carey-fineman-ziter syndrome 1 1 MYMK (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 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 Peroxisomal fatty acyl-coa reductase 1 disorder Spastic paraplegia 1 1 FAR1 (4) 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 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 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 Spastic paraplegia Zhu-tokita-takenouchi-kim syndrome 1 1 SON (7) 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 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 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 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 neurodegenerative disease Spastic paraplegia 1 1 IRF2BPL (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 hereditary spastic paraplegia 8 Spastic paraplegia 1 1 WASHC5 (5) 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 kufor-rakeb syndrome Spastic paraplegia 1 1 ATP13A2 (7) 0.00826 1.00000 7.793e-3 9.067e-3 Biotin-thiamine-responsive basal ganglia disease Spastic paraplegia 1 1 SLC19A3 (4) 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 Colorectal adenomatous polyposis Spastic paraplegia 1 1 MUTYH (2) 0.00826 1.00000 7.793e-3 9.067e-3 Congenital hypoplasia of penis Spastic paraplegia 1 0 PHF6 (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 Ataxia, sensory, autosomal dominant Spastic paraplegia 1 1 RNF170 (6) 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 Hypomyelinating leukodystrophy Treacher collins syndrome 1 1 POLR1C (8) 0.02941 0.25000 7.771e-3 9.066e-3 Periprosthetic osteolysis Tooth abnormalities 1 1 TBX3 (2) 0.04545 0.10000 7.768e-3 9.063e-3 Atherosclerosis primary ciliary dyskinesia 10 1 1 DNAAF2 (2) 0.00833 1.00000 7.728e-3 9.017e-3 Isolated sensorineural deafness Worster drought syndrome 1 0 TMTC4 (1) 0.00833 1.00000 7.728e-3 9.017e-3 31 Isolated sensorineural deafness Sensorineural deafness with renal dysfunction 1 0 BSND (1) 0.00833 1.00000 7.728e-3 9.017e-3 Isolated sensorineural deafness Sensorineural hearing loss-spastic quadriplegia–intellectual disability 1 1 AFG2B (2) 0.00833 1.00000 7.728e-3 9.017e-3 Atherosclerosis Gastroschisis 1 0 ADD1 (1) 0.00833 1.00000 7.728e-3 9.017e-3 Atherosclerosis glycogen storage disease III 1 1 AGL (2) 0.00833 1.00000 7.728e-3 9.017e-3 Mitochondrial complex deficiency Mitochondrial encephalocardiomyopathy 1 1 TMEM70 (5) 0.00833 1.00000 7.728e-3 9.017e-3 62 hearing loss, autosomal recessive 119 Isolated sensorineural deafness 1 1 AFG2B (2) 0.00833 1.00000 7.728e-3 9.017e-3 hearing loss, autosomal recessive 120 Isolated sensorineural deafness 1 1 MINAR2 (2) 0.00833 1.00000 7.728e-3 9.017e-3 31 high myopia-sensorineural deafness syndrome Isolated sensorineural deafness 1 1 SLITRK6 (2) 0.00833 1.00000 7.728e-3 9.017e-3 Hurthle cell thyroid cancer Mitochondrial complex deficiency 1 1 NDUFA13 (5) 0.00833 1.00000 7.728e-3 9.017e-3 Mitochondrial complex deficiency neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 1 1 NARS1 (2) 0.00833 1.00000 7.728e-3 9.017e-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 9.017e-3 Isolated sensorineural deafness optic atrophy 13 with retinal and foveal abnormalities 1 1 SSBP1 (2) 0.00833 1.00000 7.728e-3 9.017e-3 Acyl-coa dehydrogenase 9 deficiency Mitochondrial complex deficiency 1 1 ACAD9 (4) 0.00833 1.00000 7.728e-3 9.017e-3 Alpha-methylacyl-coa racemase deficiency Mitochondrial complex deficiency 1 1 AMACR (3) 0.00833 1.00000 7.728e-3 9.017e-3 Atherosclerosis congenital disorder of glycosylation, type iit 1 1 GALNT2 (2) 0.00833 1.00000 7.728e-3 9.017e-3 Atherosclerosis Congenital malabsorptive diarrhea 1 1 NEUROG3 (3) 0.00833 1.00000 7.728e-3 9.017e-3 Atherosclerosis Congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency 1 1 NEUROG3 (2) 0.00833 1.00000 7.728e-3 9.017e-3 Bjornstad syndrome Mitochondrial complex deficiency 1 1 BCS1L (8) 0.00833 1.00000 7.728e-3 9.017e-3 autosomal recessive nonsyndromic hearing loss 102 Isolated sensorineural deafness 1 1 EPS8 (2) 0.00833 1.00000 7.728e-3 9.017e-3 31 autosomal recessive nonsyndromic hearing loss 63 Isolated sensorineural deafness 1 1 LRTOMT (2) 0.00833 1.00000 7.728e-3 9.017e-3 31 Deafness and myopia Isolated sensorineural deafness 1 1 SLITRK6 (3) 0.00833 1.00000 7.728e-3 9.017e-3 Atherosclerosis Cerebrotendinous xanthomatosis 1 1 CYP27A1 (6) 0.00833 1.00000 7.728e-3 9.017e-3 Atherosclerosis Cholestanol storage disease 1 1 CYP27A1 (3) 0.00833 1.00000 7.728e-3 9.017e-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 Male infertility round headed spermatozoa Substance-induced psychosis 1 1 PICK1 (2) 0.04167 0.14286 7.704e-3 9.001e-3 Craniosynostosis Developmental delay with variable intellectual disability 1 1 TCF20 (5) 0.01639 0.50000 7.649e-3 8.955e-3 complex neurodevelopmental disorder Developmental delay with behavioral abnormalities 1 1 ADGRL1 (5) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Developmental delay with dysmorphic facies and dental anomalies 1 1 SATB1 (4) 0.00840 1.00000 7.663e-3 8.955e-3 dilated cardiomyopathy 1J Nonsyndromic hearing loss 1 1 EYA4 (4) 0.00840 1.00000 7.663e-3 8.955e-3 Chromosome 1q deletion syndrome complex neurodevelopmental disorder 1 1 ZBTB18 (3) 0.00840 1.00000 7.663e-3 8.955e-3 Chromosome 1q43-q44 deletion syndrome complex neurodevelopmental disorder 1 1 ZBTB18 (2) 0.00840 1.00000 7.663e-3 8.955e-3 Biliary tract cancer Chromosome 20q11-q12 deletion syndrome 1 1 EPB41L1 (3) 0.00840 1.00000 7.663e-3 8.955e-3 Chromosome 20q11-q12 deletion syndrome complex neurodevelopmental disorder 1 1 EPB41L1 (3) 0.00840 1.00000 7.663e-3 8.955e-3 Clark-baraitser syndrome complex neurodevelopmental disorder 1 1 TRIP12 (5) 0.00840 1.00000 7.663e-3 8.955e-3 6 1q44 microdeletion syndrome complex neurodevelopmental disorder 1 1 HNRNPU (3) 0.00840 1.00000 7.663e-3 8.955e-3 6 complex neurodevelopmental disorder Den hoed-de boer-voisin syndrome 1 1 SATB1 (3) 0.00840 1.00000 7.663e-3 8.955e-3 Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome complex neurodevelopmental disorder 1 1 MEF2C (3) 0.00840 1.00000 7.663e-3 8.955e-3 Atypical absence seizure Nonsyndromic hearing loss 1 0 ADPRS (1) 0.00840 1.00000 7.663e-3 8.955e-3 autosomal recessive nonsyndromic hearing loss 102 Nonsyndromic hearing loss 1 1 EPS8 (4) 0.00840 1.00000 7.663e-3 8.955e-3 31 autosomal recessive nonsyndromic hearing loss 63 Nonsyndromic hearing loss 1 1 LRTOMT (2) 0.00840 1.00000 7.663e-3 8.955e-3 31 complex neurodevelopmental disorder Epilepsy due to perinatal stroke 1 1 ST3GAL3 (2) 0.00840 1.00000 7.663e-3 8.955e-3 Biliary tract cancer friedreich ataxia 1 1 FXN (2) 0.00840 1.00000 7.663e-3 8.955e-3 72 Biliary tract cancer glycosylphosphatidylinositol biosynthesis defect 21 1 1 PIGU (2) 0.00840 1.00000 7.663e-3 8.955e-3 Nonsyndromic hearing loss Sensorineural deafness with dilated cardiomyopathy 1 1 EYA4 (4) 0.00840 1.00000 7.663e-3 8.955e-3 Nonsyndromic hearing loss Sensorineural hearing loss-spastic quadriplegia–intellectual disability 1 1 AFG2B (2) 0.00840 1.00000 7.663e-3 8.955e-3 Nonsyndromic hearing loss Stress-induced neurodegenerative ataxia seizure syndrome 1 1 ADPRS (2) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Tolchin-le caignec syndrome 1 1 SOX6 (4) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Usmani-riazuddin syndrome 1 1 AP1G1 (5) 0.00840 1.00000 7.663e-3 8.955e-3 6 Nonsyndromic hearing loss Worster drought syndrome 1 0 TMTC4 (1) 0.00840 1.00000 7.663e-3 8.955e-3 31 complex neurodevelopmental disorder pseudohypoaldosteronism type 2E 1 0 CUL3 (1) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder autism speech dysmorphic 1 1 CHD1 (2) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder behavioral dysmorphic 1 1 PHF21A (5) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder dysmorphic 1 1 POU3F3 (2) 0.00840 1.00000 7.663e-3 8.955e-3 6 complex neurodevelopmental disorder Intellectual developmental disorder dysmorphic hypotonia 1 1 KMT5B (2) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder growth behavioral 1 1 PPP2R5D (2) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder macrocephaly hypotonia behavioral 1 1 PPP2R5D (2) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder seizures epilepsy 1 1 AP2M1 (3) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder seizures language 1 1 SETD1B (4) 0.00840 1.00000 7.663e-3 8.955e-3 complex neurodevelopmental disorder Intellectual developmental disorder short stature behavioral 1 1 IQSEC1 (5) 0.00840 1.00000 7.663e-3 8.955e-3 hearing impairment and infertile male syndrome Nonsyndromic hearing loss 1 1 CDC14A (4) 0.00840 1.00000 7.663e-3 8.955e-3 hearing loss, autosomal recessive 119 Nonsyndromic hearing loss 1 1 AFG2B (2) 0.00840 1.00000 7.663e-3 8.955e-3 hearing loss, autosomal recessive 120 Nonsyndromic hearing loss 1 1 MINAR2 (2) 0.00840 1.00000 7.663e-3 8.955e-3 31 complex neurodevelopmental disorder holoprosencephaly 12 with or without pancreatic agenesis 1 0 CNOT1 (1) 0.00840 1.00000 7.663e-3 8.955e-3 Connective tissue disease schneckenbecken dysplasia 1 1 SLC35D1 (2) 0.00847 1.00000 7.598e-3 8.898e-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 8.898e-3 Connective tissue disease spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 1 1 DDR2 (2) 0.00847 1.00000 7.598e-3 8.898e-3 Connective tissue disease Multiple epiphyseal dysplasia with early-onset diabetes mellitus 1 1 EIF2AK3 (2) 0.00847 1.00000 7.598e-3 8.898e-3 Connective tissue disease neurodevelopmental disorder with microcephaly and dysmorphic facies 1 1 SPOP (2) 0.00847 1.00000 7.598e-3 8.898e-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 8.898e-3 Connective tissue disease mend syndrome 1 1 EBP (2) 0.00847 1.00000 7.598e-3 8.898e-3 multiple endocrine neoplasia type 1 Pancreatic neoplasms 1 1 MEN1 (2) 0.00847 1.00000 7.598e-3 8.898e-3 Connective tissue disease TRIP11-related skeletal dysplasia 1 1 TRIP11 (2) 0.00847 1.00000 7.598e-3 8.898e-3 Connective tissue disease Warburg-cinotti syndrome 1 1 DDR2 (5) 0.00847 1.00000 7.598e-3 8.898e-3 Connective tissue disease Wolcott-rallison syndrome 1 1 EIF2AK3 (4) 0.00847 1.00000 7.598e-3 8.898e-3 Connective tissue disease X-linked dominant chondrodysplasia punctata 1 1 EBP (2) 0.00847 1.00000 7.598e-3 8.898e-3 Comp-related skeletal dysplasia Connective tissue disease 1 1 COMP (3) 0.00847 1.00000 7.598e-3 8.898e-3 Connective tissue disease Dyggve-melchior-clausen syndrome 1 1 DYM (5) 0.00847 1.00000 7.598e-3 8.898e-3 Brachytelephalangic chondrodysplasia punctata Connective tissue disease 1 1 ARSL (2) 0.00847 1.00000 7.598e-3 8.898e-3 Camptodactyly Pancreatic neoplasms 1 1 TLN2 (3) 0.00847 1.00000 7.598e-3 8.898e-3 Anovulation Pancreatic neoplasms 1 1 NR5A2 (2) 0.00847 1.00000 7.598e-3 8.898e-3 Congenital tufting enteropathy Pancreatic neoplasms 1 1 EPCAM (2) 0.00847 1.00000 7.598e-3 8.898e-3 3mc syndrome Nasal polyp 1 0 COLEC10 (1) 0.02381 0.33333 7.580e-3 8.885e-3 Carpenter syndrome Polydactyly 1 1 MEGF8 (3) 0.02381 0.33333 7.580e-3 8.885e-3 Malpuech facial clefting syndrome Nasal polyp 1 1 COLEC10 (3) 0.02381 0.33333 7.580e-3 8.885e-3 Cannabis abuse short chain acyl-coa dehydrogenase deficiency 1 1 ACADS (2) 0.00855 1.00000 7.533e-3 8.833e-3 Cannabis abuse Cohen-gibson syndrome 1 1 EED (6) 0.00855 1.00000 7.533e-3 8.833e-3 Cannabis abuse Dorfman-chanarin disease 1 1 ABHD5 (3) 0.00855 1.00000 7.533e-3 8.833e-3 Congenital myasthenic syndrome Cystinuria 1 1 PREPL (2) 0.03030 0.25000 7.513e-3 8.810e-3 CTR9-related neurodevelopmental disorder Ovarian epithelial cancer 1 1 CTR9 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Bosley-salih-alorainy syndrome Congenital neurologic anomalies 1 1 HOXA1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Brainstem atrophy Congenital neurologic anomalies 1 0 MCOLN1 (1) 0.00862 1.00000 7.469e-3 8.759e-3 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Congenital neurologic anomalies 1 1 TPP1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Choreoacanthocytosis Congenital neurologic anomalies 1 1 VPS13A (3) 0.00862 1.00000 7.469e-3 8.759e-3 Chromosome 1q deletion syndrome Ovarian epithelial cancer 1 1 ZBTB18 (3) 0.00862 1.00000 7.469e-3 8.759e-3 Chromosome 1q43-q44 deletion syndrome Ovarian epithelial cancer 1 1 ZBTB18 (2) 0.00862 1.00000 7.469e-3 8.759e-3 ciliary dyskinesia, primary, 44 Ovarian epithelial cancer 1 1 NEK10 (2) 0.00862 1.00000 7.469e-3 8.759e-3 ciliary dyskinesia, primary, 47, and lissencephaly Congenital neurologic anomalies 1 1 TP73 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Athabaskan brainstem dysgenesis Congenital neurologic anomalies 1 1 HOXA1 (4) 0.00862 1.00000 7.469e-3 8.759e-3 autoimmune lymphoproliferative syndrome type 2A Lymphocytic leukemia 1 1 CASP10 (2) 0.00862 1.00000 7.469e-3 8.759e-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 8.759e-3 autosomal recessive osteopetrosis 6 Ovarian epithelial cancer 1 1 PLEKHM1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 BBS12-related ciliopathy Congenital neurologic anomalies 1 1 BBS12 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Beukes hip dysplasia Congenital neurologic anomalies 1 1 UFSP2 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Congenital hereditary facial paralysis with variable hearing loss syndrome Congenital neurologic anomalies 1 1 HOXB1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Ovarian epithelial cancer Riboflavin deficiency 1 1 SLC52A1 (4) 0.00862 1.00000 7.469e-3 8.759e-3 Lymphocytic leukemia Sebaceous gland neoplasms 1 1 LEF1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Lymphocytic leukemia severe combined immunodeficiency due to CD70 deficiency 1 1 CD70 (2) 0.00862 1.00000 7.469e-3 8.759e-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 8.759e-3 Congenital neurologic anomalies SRD5A3-congenital disorder of glycosylation 1 1 SRD5A3 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Laryngo-onycho-cutaneous syndrome Ovarian epithelial cancer 1 1 LAMA3 (6) 0.00862 1.00000 7.469e-3 8.759e-3 liberfarb syndrome Lymphocytic leukemia 1 1 PISD (2) 0.00862 1.00000 7.469e-3 8.759e-3 maternal riboflavin deficiency Ovarian epithelial cancer 1 1 SLC52A1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 mitochondrial trifunctional protein deficiency Non-small cell lung carcinoma 1 1 HADHB (2) 0.00862 1.00000 7.469e-3 8.759e-3 Lymphocytic leukemia mucopolysaccharidosis type 6 1 1 ARSB (2) 0.00862 1.00000 7.469e-3 8.759e-3 Lymphocytic leukemia Neurodevelopmental disorder with dilated cardiomyopathy 1 1 CAMK2D (2) 0.00862 1.00000 7.469e-3 8.759e-3 Congenital neurologic anomalies neuropathy, hereditary sensory, type 1D 1 1 ATL1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 osteopetrosis, autosomal dominant 3 Ovarian epithelial cancer 1 1 PLEKHM1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Congenital neurologic anomalies fucosidosis 1 1 FUCA1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 6 Congenital neurologic anomalies Guanidinoacetate methyltransferase deficiency 1 1 GAMT (3) 0.00862 1.00000 7.469e-3 8.759e-3 Congenital neurologic anomalies hereditary spastic paraplegia 18 1 1 ERLIN2 (2) 0.00862 1.00000 7.469e-3 8.759e-3 hermansky-pudlak syndrome 7 Non-small cell lung carcinoma 1 1 DTNBP1 (2) 0.00862 1.00000 7.469e-3 8.759e-3 Congenital neurologic anomalies Intellectual developmental disorder dysmorphic brain 1 1 TRAPPC9 (4) 0.00862 1.00000 7.469e-3 8.759e-3 Congenital neurologic anomalies Intellectual developmental disorder dysmorphic cardiac 1 1 TMEM94 (5) 0.00862 1.00000 7.469e-3 8.759e-3 Intellectual developmental disorder dysmorphic macrocephaly Lymphocytic leukemia 1 1 ZBTB7A (2) 0.00862 1.00000 7.469e-3 8.759e-3 Lymphocytic leukemia Partial corpus callosum agenesis 1 1 KPNA7 (3) 0.00862 1.00000 7.469e-3 8.759e-3 Pancreatic trypsinogen deficiency Pancreatitis 1 1 PRSS1 (4) 0.01695 0.50000 7.390e-3 8.700e-3 Dry eye syndrome Focal facial dermal dysplasia 1 1 TWIST2 (6) 0.01695 0.50000 7.390e-3 8.700e-3 Neutropenia Specific granule deficiency 1 1 SMARCD2 (5) 0.01695 0.50000 7.390e-3 8.700e-3 Cerebellar ataxia, neuropathy, and vestibular areflexia Osteosarcoma 1 1 RFC1 (4) 0.01695 0.50000 7.390e-3 8.700e-3 Bloom syndrome Osteosarcoma 1 1 BLM (8) 0.01695 0.50000 7.390e-3 8.700e-3 Blepharophimosis-ptosis-epicanthus inversus syndrome Premature ovarian failure 1 1 FOXL2 (6) 0.00870 1.00000 7.404e-3 8.700e-3 Cayman type cerebellar ataxia Cerebellar ataxia 1 1 ATCAY (6) 0.00870 1.00000 7.404e-3 8.700e-3 92 Cerebellar ataxia Cervical dystonia 1 1 CIZ1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Chromosome 15q deletion syndrome Tetralogy of fallot 1 1 MCTP2 (3) 0.00870 1.00000 7.404e-3 8.700e-3 41 Chromosome 16p11.2 microdeletion syndrome Premature ovarian failure 1 1 SH2B1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Chylothorax Tetralogy of fallot 1 1 PKD1L1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 ciliary dyskinesia, primary, 43 Tetralogy of fallot 1 1 FOXJ1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 ciliary dyskinesia, primary, 54 Spermatogenic failure 1 1 CFAP54 (3) 0.00870 1.00000 7.404e-3 8.700e-3 Congenitally uncorrected transposition of the great arteries Tetralogy of fallot 1 1 CFC1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 colorectal cancer, hereditary nonpolyposis, type 7 Premature ovarian failure 1 1 MLH3 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Congenital alpha-fetoprotein deficiency Premature ovarian failure 1 1 AFP (2) 0.00870 1.00000 7.404e-3 8.700e-3 11 Congenital insufficiency of mitral valve Tetralogy of fallot 1 1 LMCD1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Tetralogy of fallot 1 1 PPP1R13L (2) 0.00870 1.00000 7.404e-3 8.700e-3 autosomal dominant cerebellar ataxia Cerebellar ataxia 1 1 NPTX1 (3) 0.00870 1.00000 7.404e-3 8.700e-3 autosomal recessive cerebellar ataxia Cerebellar ataxia 1 1 CWF19L1 (4) 0.00870 1.00000 7.404e-3 8.700e-3 92 autosomal recessive spinocerebellar ataxia 10 Cerebellar ataxia 1 1 ANO10 (2) 0.00870 1.00000 7.404e-3 8.700e-3 autosomal recessive spinocerebellar ataxia 14 Cerebellar ataxia 1 1 SPTBN2 (2) 0.00870 1.00000 7.404e-3 8.700e-3 autosomal recessive spinocerebellar ataxia 20 Cerebellar ataxia 1 1 SNX14 (3) 0.00870 1.00000 7.404e-3 8.700e-3 Anovulation Premature ovarian failure 1 1 NR5A2 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Premature ovarian failure RAD51C-related cancer predisposition 1 1 RAD51C (2) 0.00870 1.00000 7.404e-3 8.700e-3 Spermatogenic failure spermatogenic failure 38 1 1 ARMC2 (5) 0.00870 1.00000 7.404e-3 8.700e-3 11 Spermatogenic failure spermatogenic failure 39 1 1 DNAH17 (4) 0.00870 1.00000 7.404e-3 8.700e-3 11 Spermatogenic failure spermatogenic failure 46 1 1 DNAH8 (5) 0.00870 1.00000 7.404e-3 8.700e-3 11 Spermatogenic failure spermatogenic failure 5 1 1 AURKC (3) 0.00870 1.00000 7.404e-3 8.700e-3 11 Cerebellar ataxia spinocerebellar ataxia type 42 1 1 CACNA1G (2) 0.00870 1.00000 7.404e-3 8.700e-3 92 Cerebellar ataxia spinocerebellar ataxia type 5 1 1 SPTBN2 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Cerebellar ataxia spinocerebellar ataxia, autosomal recessive 23 1 1 TDP2 (3) 0.00870 1.00000 7.404e-3 8.700e-3 92 Spermatogenic failure stankiewicz-isidor syndrome 1 1 PSMD12 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Premature ovarian failure SYCE1-related gametogenic failure 1 1 SYCE1 (5) 0.00870 1.00000 7.404e-3 8.700e-3 11 Spermatogenic failure SYCE1-related gametogenic failure 1 1 SYCE1 (6) 0.00870 1.00000 7.404e-3 8.700e-3 11 fanconi anemia complementation group o Premature ovarian failure 1 1 RAD51C (2) 0.00870 1.00000 7.404e-3 8.700e-3 Fanconi anemia complementation group U Premature ovarian failure 1 1 XRCC2 (4) 0.00870 1.00000 7.404e-3 8.700e-3 Fanconi anemia complementation group U Spermatogenic failure 1 1 XRCC2 (5) 0.00870 1.00000 7.404e-3 8.700e-3 Genetic infertility Premature ovarian failure 1 1 SPATA22 (3) 0.00870 1.00000 7.404e-3 8.700e-3 Ovarian teratoma Premature ovarian failure 1 1 BMP15 (2) 0.00870 1.00000 7.404e-3 8.700e-3 PLD1-related congenital heart disease Tetralogy of fallot 1 1 PLD1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Cerebellar ataxia POLR1C-related disorder 1 1 POLR1C (2) 0.00870 1.00000 7.404e-3 8.700e-3 Cerebellar ataxia POLR3B-related disorder 1 1 POLR3B (2) 0.00870 1.00000 7.404e-3 8.700e-3 primary ciliary dyskinesia 20 Tetralogy of fallot 1 1 ODAD1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Premature ovarian failure primordial dwarfism-immunodeficiency-lipodystrophy syndrome 1 1 PRIM1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Premature ovarian failure Prognathism 1 1 ADAMTS1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Cerebellar ataxia neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 1 1 CAPRIN1 (2) 0.00870 1.00000 7.404e-3 8.700e-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 8.700e-3 Nonobstructive azoospermia Spermatogenic failure 1 1 SLC26A8 (5) 0.00870 1.00000 7.404e-3 8.700e-3 NR2F2 related multiple congenital anomalies/dysmorphic syndrome Tetralogy of fallot 1 1 NR2F2 (2) 0.00870 1.00000 7.404e-3 8.700e-3 lessel-kreienkamp syndrome Premature ovarian failure 1 1 AGO2 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Male infertility motility disorder Spermatogenic failure 1 1 CCDC146 (3) 0.00870 1.00000 7.404e-3 8.700e-3 MCM9-related gametogenic failure Premature ovarian failure 1 1 MCM9 (3) 0.00870 1.00000 7.404e-3 8.700e-3 Cerebellar ataxia megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 MLC1 (2) 0.00870 1.00000 7.404e-3 8.700e-3 Cerebellar ataxia Troyer syndrome 1 1 SPART (4) 0.00870 1.00000 7.404e-3 8.700e-3 Tetralogy of fallot Truncus arteriosus 1 1 TMEM260 (2) 0.00870 1.00000 7.404e-3 8.700e-3 41 Premature ovarian failure Udp-glucose-hexose-1-phosphate uridylyltransferase 1 1 GALT (2) 0.00870 1.00000 7.404e-3 8.700e-3 Premature ovarian failure Weiss-kruszka syndrome 1 1 ZNF462 (6) 0.00870 1.00000 7.404e-3 8.700e-3 Spermatogenic failure Xy gonadal dysgenesis syndrome 1 1 PPP2R3C (4) 0.00870 1.00000 7.404e-3 8.700e-3 HAND2 related congenital heart defect Tetralogy of fallot 1 1 HAND2 (3) 0.00870 1.00000 7.404e-3 8.700e-3 Helsmoortel-van der aa syndrome Tetralogy of fallot 1 1 ADNP (3) 0.00870 1.00000 7.404e-3 8.700e-3 Hyperprolactinemia Premature ovarian failure 1 1 PRLR (4) 0.00870 1.00000 7.404e-3 8.700e-3 Eosinophilia holocarboxylase synthetase deficiency 1 1 HLCS (2) 0.00885 1.00000 7.274e-3 8.578e-3 Multisystem disorder Myopathy 1 1 TOR1AIP1 (3) 0.00885 1.00000 7.274e-3 8.578e-3 Myopathy myopathy, proximal, and ophthalmoplegia 1 1 MYH2 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Myopathy nemaline myopathy 5 1 1 TNNT1 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Eosinophilia Neovascular inflammatory vitreoretinopathy 1 1 CAPN5 (4) 0.00885 1.00000 7.274e-3 8.578e-3 Eosinophilia Sialidosis 1 1 NEU1 (6) 0.00885 1.00000 7.274e-3 8.578e-3 Eosinophilia fontaine progeroid syndrome 1 1 SLC25A24 (2) 0.00885 1.00000 7.274e-3 8.578e-3 103 glycogen storage disease V Myopathy 1 1 PYGM (2) 0.00885 1.00000 7.274e-3 8.578e-3 Myopathy TOR1AIP1-related myopathy 1 1 TOR1AIP1 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Eosinophilia xeroderma pigmentosum variant type 1 1 POLH (2) 0.00885 1.00000 7.274e-3 8.578e-3 Eosinophilia intellectual developmental disorder 59 1 1 CAMK2G (2) 0.00885 1.00000 7.274e-3 8.578e-3 Eosinophilia jaberi-elahi syndrome 1 1 GTPBP2 (2) 0.00885 1.00000 7.274e-3 8.578e-3 103 MEGF10-related myopathy Myopathy 1 1 MEGF10 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Amish nemaline myopathy Myopathy 1 1 TNNT1 (2) 0.00885 1.00000 7.274e-3 8.578e-3 congenital myasthenic syndrome 12 Myopathy 1 1 GFPT1 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Congenital sialidosis Eosinophilia 1 1 NEU1 (3) 0.00885 1.00000 7.274e-3 8.578e-3 Cranio-cervical dystonia Eosinophilia 1 1 ANO3 (3) 0.00885 1.00000 7.274e-3 8.578e-3 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Myopathy 1 1 MYH2 (3) 0.00885 1.00000 7.274e-3 8.578e-3 Autoinflammation with episodic fever and immune dysregulation Eosinophilia 1 1 SHARPIN (5) 0.00885 1.00000 7.274e-3 8.578e-3 autosomal dominant slowed nerve conduction velocity Myopathy 1 1 ARHGEF10 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Axonal neuropathy with neuromyotonia Myopathy 1 1 HINT1 (3) 0.00885 1.00000 7.274e-3 8.578e-3 131 Congenital finger flexion contractures Myopathy 1 0 TNNI2 (1) 0.00885 1.00000 7.274e-3 8.578e-3 DPM3-congenital disorder of glycosylation Myopathy 1 1 DPM3 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Myopathy 1 1 MEGF10 (2) 0.00885 1.00000 7.274e-3 8.578e-3 Aortic valve stenosis Clonal hematopoiesis 1 0 ANKRD7 (1) 0.01724 0.50000 7.261e-3 8.574e-3 Autoimmune interstitial lung disease-arthritis syndrome Bell's palsy 1 1 NLRP12 (2) 0.01724 0.50000 7.261e-3 8.574e-3 Bell's palsy Intellectual developmental disorder seizures speech 1 1 NTNG2 (2) 0.01724 0.50000 7.261e-3 8.574e-3 Hereditary chronic pancreatitis Spermatogenic failure, y-linked 1 1 CFTR (2) 0.04545 0.12500 7.252e-3 8.565e-3 Chondromalacia Vascular brain injury 1 0 ARHGAP15 (1) 0.04545 0.12500 7.252e-3 8.565e-3 Chromosomal instability Papillary thyroid cancer 1 0 PPP2R5C (1) 0.04545 0.12500 7.252e-3 8.565e-3 COG5-congenital disorder of glycosylation Dyslexia 1 1 COG5 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Congenital plasmin inhibitor deficiency Hodgkin lymphoma 1 1 SERPINF2 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Corneal degeneration Keratoconus 1 0 RDH8 (1) 0.00893 1.00000 7.209e-3 8.515e-3 Corneal injury Keratoconus 1 1 ALDH3A1 (3) 0.00893 1.00000 7.209e-3 8.515e-3 Demyelinating leukodystrophy Dyslexia 1 1 LMNB1 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Dentici novelli neurodevelopmental syndrome Hodgkin lymphoma 1 1 ZNF526 (4) 0.00893 1.00000 7.209e-3 8.515e-3 89 autosomal agammaglobulinemia Hodgkin lymphoma 1 1 TCF3 (2) 0.00893 1.00000 7.209e-3 8.515e-3 19p13.3 microduplication syndrome Hodgkin lymphoma 1 1 NFIX (3) 0.00893 1.00000 7.209e-3 8.515e-3 Alpha-2-plasmin inhibitor deficiency Hodgkin lymphoma 1 1 SERPINF2 (3) 0.00893 1.00000 7.209e-3 8.515e-3 Congenital alpha-2-antiplasmin deficiency Hodgkin lymphoma 1 1 SERPINF2 (3) 0.00893 1.00000 7.209e-3 8.515e-3 Congenital cataract severe neonatal hepatopathy developmental delay syndrome Dyslexia 1 1 CYP51A1 (3) 0.00893 1.00000 7.209e-3 8.515e-3 Hodgkin lymphoma severe combined immunodeficiency due to CORO1A deficiency 1 1 CORO1A (2) 0.00893 1.00000 7.209e-3 8.515e-3 Male infertility spermatogenic failure 5 1 1 AURKC (3) 0.00893 1.00000 7.209e-3 8.515e-3 11 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly Keratoconus 1 1 PIDD1 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Isolated follicle-stimulating hormone deficiency Male infertility 1 1 FSHB (2) 0.00893 1.00000 7.209e-3 8.515e-3 Keratoconus neutral lipid storage myopathy 1 1 PNPLA2 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Male infertility primary ciliary dyskinesia 1 1 1 DNAI1 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Male infertility primary ciliary dyskinesia 23 1 1 ODAD2 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Dyslexia primary ciliary dyskinesia 25 1 1 DNAAF4 (4) 0.00893 1.00000 7.209e-3 8.515e-3 hearing impairment and infertile male syndrome Male infertility 1 1 CDC14A (3) 0.00893 1.00000 7.209e-3 8.515e-3 Hodgkin lymphoma Malan syndrome 1 1 NFIX (6) 0.00893 1.00000 7.209e-3 8.515e-3 Keratoconus Malonyl-coa decarboxylase deficiency 1 1 MLYCD (2) 0.00893 1.00000 7.209e-3 8.515e-3 Hodgkin lymphoma marshall-smith syndrome 1 1 NFIX (2) 0.00893 1.00000 7.209e-3 8.515e-3 Male infertility MCM9-related gametogenic failure 1 1 MCM9 (3) 0.00893 1.00000 7.209e-3 8.515e-3 Dyslexia microcephaly 26, primary, autosomal dominant 1 1 LMNB1 (2) 0.00893 1.00000 7.209e-3 8.515e-3 gray platelet syndrome Keratoconus 1 1 NBEAL2 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Keratoconus temtamy preaxial brachydactyly syndrome 1 1 CHSY1 (2) 0.00893 1.00000 7.209e-3 8.515e-3 Dyslexia Tongue disorder 1 0 ESRRG (1) 0.00893 1.00000 7.209e-3 8.515e-3 Hodgkin lymphoma Tritanopia 1 1 OPN1SW (4) 0.00893 1.00000 7.209e-3 8.515e-3 Atypical femoral fracture Spastic paraplegia, x-linked 1 1 SPAST (2) 0.02500 0.33333 7.192e-3 8.510e-3 Autoinflammatory syndrome Griscelli syndrome 1 1 RAB27A (7) 0.02500 0.33333 7.192e-3 8.510e-3 Hemolytic anemia Hemolytic disease of fetus and newborn 1 1 RHD (3) 0.01754 0.50000 7.131e-3 8.439e-3 Hemolytic anemia Pyruvate kinase deficiency 1 1 PKLR (2) 0.01754 0.50000 7.131e-3 8.439e-3 Hemolytic anemia Rh isoimmunization 1 1 RHD (2) 0.01754 0.50000 7.131e-3 8.439e-3 Synovitis, acne, pustulosis, hyperostosis, and osteitis Urogenital neoplasms 1 1 WNT7A (4) 0.03704 0.20000 7.124e-3 8.432e-3 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Dysarthria 1 0 SURF1 (1) 0.03704 0.20000 7.124e-3 8.432e-3 Goldenhar syndrome Periodic limb movement disorder 1 1 MYT1 (2) 0.04762 0.10000 7.123e-3 8.431e-3 Giant axonal neuropathy Non-neoplastic peripheral nervous system disease 1 1 GAN (7) 0.01786 0.50000 7.002e-3 8.288e-3 Autonomic nervous system disease Psoriasis vulgaris 1 0 ELMO1 (1) 0.01786 0.50000 7.002e-3 8.288e-3 14 Brain infarction Cerebral artery occlusion 1 0 ADGRE3 (1) 0.02564 0.33333 6.998e-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 8.285e-3 Proliferative diabetic retinopathy Pseudo-torch syndrome 1 1 STAT2 (5) 0.02564 0.33333 6.998e-3 8.285e-3 Lipoyltransferase deficiency Ventricular fibrillation 1 1 LIPT2 (2) 0.02564 0.33333 6.998e-3 8.285e-3 Autoimmune nervous system disorder Hepatolenticular degeneration 1 1 ANXA5 (2) 0.03226 0.25000 6.996e-3 8.284e-3 Amnesia Renal pelvis neoplasms 1 1 GNAI1 (3) 0.04167 0.16667 6.995e-3 8.283e-3 Leigh syndrome pyruvate dehydrogenase E3 deficiency 1 1 DLD (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 Male infertility motility disorder Male infertility single gene azoospermia 1 1 CCDC146 (2) 0.00926 1.00000 6.949e-3 8.230e-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 Thiamine-responsive encephalopathy 1 1 SLC19A3 (4) 0.00926 1.00000 6.949e-3 8.230e-3 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 Hurthle cell thyroid cancer Leigh syndrome 1 1 NDUFA13 (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 3-hydroxyisobutyryl-coa hydrolase deficiency Leigh syndrome 1 1 HIBCH (3) 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 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 Codas syndrome Leigh syndrome 1 1 LONP1 (7) 0.00926 1.00000 6.949e-3 8.230e-3 62 Biotin-thiamine-responsive basal ganglia disease Leigh syndrome 1 1 SLC19A3 (5) 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 Cataract-growth hormone deficiency-skeletal dysplasia syndrome Leigh syndrome 1 1 IARS2 (6) 0.00926 1.00000 6.949e-3 8.230e-3 Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome Microcephaly 1 1 QARS1 (6) 0.00935 1.00000 6.884e-3 8.163e-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 8.163e-3 Demyelinating leukodystrophy Microcephaly 1 1 LMNB1 (4) 0.00935 1.00000 6.884e-3 8.163e-3 Amish lethal microcephaly Microcephaly 1 1 SLC25A19 (6) 0.00935 1.00000 6.884e-3 8.163e-3 Genetic syndromic pierre robin syndrome Microcephaly 1 0 EFTUD2 (1) 0.00935 1.00000 6.884e-3 8.163e-3 goldberg-shprintzen syndrome Microcephaly 1 1 KIFBP (3) 0.00935 1.00000 6.884e-3 8.163e-3 microcephalic primordial dwarfism due to RTTN deficiency Microcephaly 1 1 RTTN (4) 0.00935 1.00000 6.884e-3 8.163e-3 Microcephaly microcephaly 26, primary, autosomal dominant 1 1 LMNB1 (5) 0.00935 1.00000 6.884e-3 8.163e-3 Microcephaly microcephaly and chorioretinopathy 1 1 1 TUBGCP6 (5) 0.00935 1.00000 6.884e-3 8.163e-3 Microcephaly microcephaly with or without short stature 1 1 CEP152 (5) 0.00935 1.00000 6.884e-3 8.163e-3 137 Microcephaly mosaic variegated aneuploidy syndrome 1 1 1 BUB1B (3) 0.00935 1.00000 6.884e-3 8.163e-3 Microcephaly neurodevelopmental disorder with microcephaly and dysmorphic facies 1 1 SPOP (2) 0.00935 1.00000 6.884e-3 8.163e-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 8.163e-3 Congenital anomalies of the kidney and urinary tract Ochoa syndrome 1 0 HPSE2 (1) 0.01818 0.50000 6.872e-3 8.155e-3 Giant axonal neuropathy Peripheral nervous system disease 1 1 GAN (7) 0.01818 0.50000 6.872e-3 8.155e-3 Congenital anomalies of the kidney and urinary tract Townes-brocks syndrome 1 1 SALL1 (7) 0.01818 0.50000 6.872e-3 8.155e-3 Congenital anomalies of the kidney and urinary tract Urofacial syndrome 1 1 HPSE2 (6) 0.01818 0.50000 6.872e-3 8.155e-3 Angiocentric glioma Myeloproliferative disorder 1 1 MYB (2) 0.01818 0.50000 6.872e-3 8.155e-3 Candle syndrome Hyperthyroidism 1 1 PSMB8 (2) 0.01818 0.50000 6.872e-3 8.155e-3 Cystic leukoencephalopathy Hyperthyroidism 1 1 RNASET2 (4) 0.01818 0.50000 6.872e-3 8.155e-3 Adenosine deaminase 2 deficiency Behcet disease 1 1 ADA2 (4) 0.00943 1.00000 6.819e-3 8.095e-3 Bipolar depression combined immunodeficiency due to STK4 deficiency 1 1 STK4 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Aromatic l-amino-acid decarboxylase deficiency Bipolar depression 1 1 DDC (3) 0.00943 1.00000 6.819e-3 8.095e-3 Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia Behcet disease 1 1 PSTPIP1 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Benign essential blepharospasm Bipolar depression 1 1 DRD5 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Bipolar depression Blepharospasm 1 1 DRD5 (3) 0.00943 1.00000 6.819e-3 8.095e-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 8.095e-3 Bipolar depression Neurogenic bladder 1 1 CHRM2 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Bipolar depression schuurs-hoeijmakers syndrome 1 1 PACS1 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Behcet disease seckel syndrome 10 1 1 NSMCE2 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Behcet disease Papa syndrome 1 1 PSTPIP1 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Bipolar depression hereditary sensory and autonomic neuropathy type 4 1 1 NTRK1 (2) 0.00943 1.00000 6.819e-3 8.095e-3 Benign prostatic hyperplasia Throat disease 1 0 GATA5 (1) 0.02632 0.33333 6.804e-3 8.083e-3 Growth disorder Smith-magenis syndrome 1 1 RAI1 (7) 0.02632 0.33333 6.804e-3 8.083e-3 C1q deficiency Ovarian cysts 1 1 C1QB (6) 0.02632 0.33333 6.804e-3 8.083e-3 Circadian rhythm sleep disorder Diabetic ketoacidosis 1 0 CNTN5 (1) 0.02632 0.33333 6.804e-3 8.083e-3 Kleine-levin syndrome Mobius syndrome 1 0 PLXND1 (1) 0.04545 0.14286 6.800e-3 8.081e-3 Lactic acidosis Spinocerebellar ataxia 1 1 PMPCA (4) 0.00952 1.00000 6.754e-3 8.026e-3 Spinocerebellar ataxia spinocerebellar ataxia type 13 1 1 KCNC3 (6) 0.00952 1.00000 6.754e-3 8.026e-3 92 Spinocerebellar ataxia spinocerebellar ataxia type 42 1 1 CACNA1G (6) 0.00952 1.00000 6.754e-3 8.026e-3 92 Spinocerebellar ataxia spinocerebellar ataxia type 5 1 1 SPTBN2 (7) 0.00952 1.00000 6.754e-3 8.026e-3 Spinocerebellar ataxia spinocerebellar ataxia, autosomal recessive 23 1 1 TDP2 (6) 0.00952 1.00000 6.754e-3 8.026e-3 92 Spinocerebellar ataxia spinocerebellar ataxia, autosomal recessive 27 1 1 GDAP2 (5) 0.00952 1.00000 6.754e-3 8.026e-3 92 Spinocerebellar ataxia spinocerebellar ataxia, autosomal recessive 28 1 1 THG1L (5) 0.00952 1.00000 6.754e-3 8.026e-3 92 granulocytopenia with immunoglobulin abnormality Spinocerebellar ataxia 1 1 HYOU1 (3) 0.00952 1.00000 6.754e-3 8.026e-3 Neutropenia, nonimmune chronic idiopathic, adult Spinocerebellar ataxia 1 1 GFI1 (3) 0.00952 1.00000 6.754e-3 8.026e-3 Cerebelloparenchymal disorder Spinocerebellar ataxia 1 1 PMPCA (5) 0.00952 1.00000 6.754e-3 8.026e-3 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Spinocerebellar ataxia 1 1 TPP1 (6) 0.00952 1.00000 6.754e-3 8.026e-3 Chondromyxoid fibroma Spinocerebellar ataxia 1 1 GRM1 (6) 0.00952 1.00000 6.754e-3 8.026e-3 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Spinocerebellar ataxia 1 1 ASNS (2) 0.00952 1.00000 6.754e-3 8.026e-3 Ataxia with oculomotor apraxia and hypoalbuminemia Spinocerebellar ataxia 1 1 APTX (2) 0.00952 1.00000 6.754e-3 8.026e-3 Ataxia-pancytopenia syndrome Spinocerebellar ataxia 1 1 SAMD9L (5) 0.00952 1.00000 6.754e-3 8.026e-3 autosomal dominant cerebellar ataxia Spinocerebellar ataxia 1 1 NPTX1 (4) 0.00952 1.00000 6.754e-3 8.026e-3 autosomal recessive cerebellar ataxia Spinocerebellar ataxia 1 1 CWF19L1 (6) 0.00952 1.00000 6.754e-3 8.026e-3 92 autosomal recessive spinocerebellar ataxia 10 Spinocerebellar ataxia 1 1 ANO10 (6) 0.00952 1.00000 6.754e-3 8.026e-3 autosomal recessive spinocerebellar ataxia 14 Spinocerebellar ataxia 1 1 SPTBN2 (7) 0.00952 1.00000 6.754e-3 8.026e-3 autosomal recessive spinocerebellar ataxia 20 Spinocerebellar ataxia 1 1 SNX14 (6) 0.00952 1.00000 6.754e-3 8.026e-3 Benign recurrent intrahepatic cholestasis Conduct disorder 1 1 ATP8B1 (3) 0.01852 0.50000 6.743e-3 8.022e-3 Cortisone reductase deficiency Hyperglycemia 1 1 HSD11B1 (5) 0.01852 0.50000 6.743e-3 8.022e-3 Aortic valve stenosis Retinopathy 1 0 ANKRD7 (1) 0.01852 0.50000 6.743e-3 8.022e-3 Congenital cataract hearing loss developmental delay syndrome Liver failure 1 1 GFER (4) 0.01852 0.50000 6.743e-3 8.022e-3 Arrhythmogenic right ventricular cardiomyopathy Genetic recurrent myoglobinuria 1 1 OBSCN (2) 0.01852 0.50000 6.743e-3 8.022e-3 Arrhythmogenic right ventricular cardiomyopathy Rh isoimmunization 1 0 RSRP1 (1) 0.01852 0.50000 6.743e-3 8.022e-3 Arrhythmogenic right ventricular cardiomyopathy Hemolytic disease of fetus and newborn 1 0 RSRP1 (1) 0.01852 0.50000 6.743e-3 8.022e-3 Infantile liver failure Liver failure 1 1 TRMU (4) 0.01852 0.50000 6.743e-3 8.022e-3 Cryptospermia Hydrocephalus 1 0 TRIM71 (1) 0.03333 0.25000 6.738e-3 8.019e-3 298 combined immunodeficiency due to LRBA deficiency Female infertility 1 1 LRBA (2) 0.00962 1.00000 6.689e-3 7.962e-3 Congenital hypogonadotropic hypogonadism Female infertility 1 1 EMX2 (2) 0.00962 1.00000 6.689e-3 7.962e-3 Anovulation Female infertility 1 1 NR5A2 (2) 0.00962 1.00000 6.689e-3 7.962e-3 Female infertility immunodeficiency-centromeric instability-facial anomalies syndrome 1 1 1 DNMT3B (2) 0.00962 1.00000 6.689e-3 7.962e-3 Female infertility Isolated follicle-stimulating hormone deficiency 1 1 FSHB (2) 0.00962 1.00000 6.689e-3 7.962e-3 Female infertility hand-foot-genital syndrome 1 1 HOXA13 (3) 0.00962 1.00000 6.689e-3 7.962e-3 Female infertility radioulnar synostosis with amegakaryocytic thrombocytopenia 1 1 1 HOXA11 (3) 0.00962 1.00000 6.689e-3 7.962e-3 Female infertility NR2F2 related multiple congenital anomalies/dysmorphic syndrome 1 1 NR2F2 (2) 0.00962 1.00000 6.689e-3 7.962e-3 Female infertility Uterine bilocularis 1 1 HOXA13 (2) 0.00962 1.00000 6.689e-3 7.962e-3 Female infertility macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 1 1 CDC42 (2) 0.00962 1.00000 6.689e-3 7.962e-3 leukodystrophy, hypomyelinating, 14 Long qt syndrome 1 1 UFM1 (2) 0.00971 1.00000 6.624e-3 7.889e-3 immunodeficiency 97 with autoinflammation Long qt syndrome 1 1 PIK3CG (2) 0.00971 1.00000 6.624e-3 7.889e-3 Intellectual developmental disorder seizures dysmorphic gait Long qt syndrome 1 1 WDR26 (2) 0.00971 1.00000 6.624e-3 7.889e-3 familial isolated arrhythmogenic right ventricular dysplasia Long qt syndrome 1 1 DSC2 (2) 0.00971 1.00000 6.624e-3 7.889e-3 3 Charcot-Marie-Tooth disease, demyelinating, type 1J Long qt syndrome 1 1 ITPR3 (2) 0.00971 1.00000 6.624e-3 7.889e-3 Cohen syndrome Long qt syndrome 1 1 VPS13B (7) 0.00971 1.00000 6.624e-3 7.889e-3 dilated cardiomyopathy 1CC Long qt syndrome 1 1 NEXN (2) 0.00971 1.00000 6.624e-3 7.889e-3 3 dilated cardiomyopathy 1W Long qt syndrome 1 1 VCL (2) 0.00971 1.00000 6.624e-3 7.889e-3 15q13.3 microdeletion syndrome Memory disorders 1 1 CHRNA7 (5) 0.01887 0.50000 6.613e-3 7.880e-3 Marinesco-sjogren syndrome Strabismus 1 1 SIL1 (6) 0.02703 0.33333 6.610e-3 7.876e-3 Parenchymal hematoma Prion disease 1 0 SEMA3A (1) 0.04348 0.16667 6.607e-3 7.873e-3 Hereditary spastic paraplegia Paraparesis 1 1 TECPR2 (2) 0.00980 1.00000 6.559e-3 7.817e-3 Lung disease primary ciliary dyskinesia 29 1 1 CCNO (3) 0.00980 1.00000 6.559e-3 7.817e-3 fanconi anemia complementation group i Hereditary spastic paraplegia 1 1 FANCI (2) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary sensory and autonomic neuropathy with spastic paraplegia Hereditary spastic paraplegia 1 1 CCT5 (3) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary spastic paraplegia hereditary spastic paraplegia 11 1 1 SPG11 (2) 0.00980 1.00000 6.559e-3 7.817e-3 242 Hereditary spastic paraplegia hereditary spastic paraplegia 18 1 1 ERLIN2 (2) 0.00980 1.00000 6.559e-3 7.817e-3 242 Hereditary spastic paraplegia hereditary spastic paraplegia 35 1 1 FA2H (2) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary spastic paraplegia hereditary spastic paraplegia 62 1 1 ERLIN1 (2) 0.00980 1.00000 6.559e-3 7.817e-3 242 Hereditary spastic paraplegia hereditary spastic paraplegia 8 1 1 WASHC5 (2) 0.00980 1.00000 6.559e-3 7.817e-3 hermansky-pudlak syndrome 2 Lung disease 1 1 AP3B1 (2) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary spastic paraplegia renpenning syndrome 1 1 PQBP1 (3) 0.00980 1.00000 6.559e-3 7.817e-3 Lung disease severe combined immunodeficiency due to DNA-PKcs deficiency 1 1 PRKDC (3) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary spastic paraplegia Spastic ataxia of charlevoix-saguenay 1 1 SACS (2) 0.00980 1.00000 6.559e-3 7.817e-3 Lung disease lung disease, immunodeficiency, and chromosome breakage syndrome; 1 1 NSMCE3 (5) 0.00980 1.00000 6.559e-3 7.817e-3 133 Cardioembolic stroke Neurodevelopmental disorder with dilated cardiomyopathy 1 1 CAMK2D (2) 0.00980 1.00000 6.559e-3 7.817e-3 Cardioembolic stroke neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1 1 POLR2A (2) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary spastic paraplegia neuropathy, hereditary sensory, type 1D 1 1 ATL1 (2) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary spastic paraplegia T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 1 JAK3 (2) 0.00980 1.00000 6.559e-3 7.817e-3 Cardioembolic stroke Tritanopia 1 1 OPN1SW (4) 0.00980 1.00000 6.559e-3 7.817e-3 Hereditary spastic paraplegia Troyer syndrome 1 1 SPART (4) 0.00980 1.00000 6.559e-3 7.817e-3 Allan-herndon-dudley syndrome Hereditary spastic paraplegia 1 1 SLC16A2 (3) 0.00980 1.00000 6.559e-3 7.817e-3 242 ALS2-related motor neuron disease Hereditary spastic paraplegia 1 1 ALS2 (2) 0.00980 1.00000 6.559e-3 7.817e-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 7.817e-3 Autoinflammation and autoimmunity, systemic, with immune dysregulation 1 Lung disease 1 1 COPA (2) 0.00980 1.00000 6.559e-3 7.817e-3 Congenital hypopituitarism Lung disease 1 1 FOXA2 (2) 0.00980 1.00000 6.559e-3 7.817e-3 Cardioembolic stroke cardiomyopathy, dilated, 2d 1 1 RPL3L (2) 0.00980 1.00000 6.559e-3 7.817e-3 Cardioembolic stroke Chromosome 2p16.1-p15 deletion syndrome 1 1 USP34 (2) 0.00980 1.00000 6.559e-3 7.817e-3 Adenoid cystic carcinoma Developmental delay with hypotonia and behavioral abnormalities 1 1 SRCAP (5) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma Developmental delay with hypotonia and impaired language 1 1 FBXW7 (5) 0.00990 1.00000 6.494e-3 7.751e-3 Birbeck granule deficiency Seasonal allergic rhinitis 1 1 CD207 (4) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma autosomal dominant combined immunodeficiency due to ERBIN deficiency 1 1 ERBIN (2) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma floating-harbor syndrome 1 1 SRCAP (2) 0.00990 1.00000 6.494e-3 7.751e-3 IL21-related infantile inflammatory bowel disease Seasonal allergic rhinitis 1 1 IL21 (2) 0.00990 1.00000 6.494e-3 7.751e-3 immunodeficiency 25 Seasonal allergic rhinitis 1 1 CD247 (2) 0.00990 1.00000 6.494e-3 7.751e-3 Intellectual developmental disorder seizures cerebellar Seasonal allergic rhinitis 1 1 RORA (4) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma Intellectual disability with craniofacial dysmorphism and macrocephaly 1 1 H1-4 (2) 0.00990 1.00000 6.494e-3 7.751e-3 interstitial lung disease 1 Obstructive airway disease 1 1 SFTPA1 (2) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma Zhu-tokita-takenouchi-kim syndrome 1 1 SON (6) 0.00990 1.00000 6.494e-3 7.751e-3 Seasonal allergic rhinitis Sensorineural deafness with renal dysfunction 1 1 BSND (2) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma severe combined immunodeficiency due to DNA-PKcs deficiency 1 1 PRKDC (2) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma Shukla-vernon syndrome 1 1 BCORL1 (5) 0.00990 1.00000 6.494e-3 7.751e-3 Obstructive airway disease susceptibility to respiratory infections associated with CD8alpha chain mutation 1 1 CD8A (2) 0.00990 1.00000 6.494e-3 7.751e-3 133 Laryngo-onycho-cutaneous syndrome Seasonal allergic rhinitis 1 1 LAMA3 (6) 0.00990 1.00000 6.494e-3 7.751e-3 Adenoid cystic carcinoma megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 MLC1 (2) 0.00990 1.00000 6.494e-3 7.751e-3 Promyelocytic leukemia Specific granule deficiency 1 1 CEBPE (5) 0.01923 0.50000 6.484e-3 7.746e-3 Deafness-infertility syndrome Hereditary hearing loss 1 1 STRC (3) 0.01923 0.50000 6.484e-3 7.746e-3 Deafness, sensorineural, and male infertility Hereditary hearing loss 1 1 STRC (3) 0.01923 0.50000 6.484e-3 7.746e-3 Dementia in huntington’s disease Small vessel stroke 1 1 JPH3 (2) 0.01923 0.50000 6.484e-3 7.746e-3 Auditory system disease Thyroid carcinoma 1 0 VAV3 (1) 0.05000 0.11111 6.413e-3 7.683e-3 ATP6AP2-related disorder Congenital disorder of glycosylation 1 1 ATP6AP2 (5) 0.01000 1.00000 6.429e-3 7.683e-3 B4GALT1-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 B4GALT1 (6) 0.01000 1.00000 6.429e-3 7.683e-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 7.683e-3 Congenital disorder of glycosylation DDOST-congenital disorder of glycosylation 1 1 DDOST (7) 0.01000 1.00000 6.429e-3 7.683e-3 Charcot-Marie-Tooth disease, demyelinating, type 1J Graves disease 1 1 ITPR3 (2) 0.01000 1.00000 6.429e-3 7.683e-3 309 COG1-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 COG1 (7) 0.01000 1.00000 6.429e-3 7.683e-3 5 COG4-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 COG4 (7) 0.01000 1.00000 6.429e-3 7.683e-3 COG5-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 COG5 (7) 0.01000 1.00000 6.429e-3 7.683e-3 5 COG6-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 COG6 (6) 0.01000 1.00000 6.429e-3 7.683e-3 COG7-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 COG7 (7) 0.01000 1.00000 6.429e-3 7.683e-3 5 COG8-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 COG8 (7) 0.01000 1.00000 6.429e-3 7.683e-3 5 A4GALT-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 A4GALT (2) 0.01000 1.00000 6.429e-3 7.683e-3 ALG1-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 ALG1 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 ALG11-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 ALG11 (5) 0.01000 1.00000 6.429e-3 7.683e-3 ALG12-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 ALG12 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 ALG2-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 ALG2 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 ALG3-congenital disorder of glycosylation Congenital disorder of glycosylation 1 1 ALG3 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 ALG6-congenital disorder of glycosylation 1C Congenital disorder of glycosylation 1 1 ALG6 (5) 0.01000 1.00000 6.429e-3 7.683e-3 ALG9-associated autosomal dominant polycystic kidney disease Congenital disorder of glycosylation 1 1 ALG9 (5) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation Developmental delay and seizures 1 1 DHDDS (4) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation DHDDS-CDG 1 1 DHDDS (2) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation DK1-congenital disorder of glycosylation 1 1 DOLK (6) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation 1 1 DPAGT1 (6) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation DPM3-congenital disorder of glycosylation 1 1 DPM3 (4) 0.01000 1.00000 6.429e-3 7.683e-3 5 Combined low ldl and fibrinogen Congenital disorder of glycosylation 1 1 B4GALT1 (5) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation congenital disorder of glycosylation type 1E 1 1 DPM1 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation congenital disorder of glycosylation type II 1 1 ATP6AP1 (3) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation congenital disorder of glycosylation with defective fucosylation 1 1 1 FUT8 (4) 0.01000 1.00000 6.429e-3 7.683e-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 7.683e-3 5 Congenital disorder of glycosylation congenital disorder of glycosylation, type 2v 1 1 EDEM3 (4) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation congenital disorder of glycosylation, type IIq 1 1 COG2 (7) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation congenital disorder of glycosylation, type iit 1 1 GALNT2 (5) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation congenital disorder of glycosylation, type IIz 1 1 CAMLG (5) 0.01000 1.00000 6.429e-3 7.683e-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 7.683e-3 Congenital disorder of glycosylation RFT1-congenital disorder of glycosylation 1 1 RFT1 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation Sandestig-stefanova syndrome 1 1 NUP188 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation Saul-wilson syndrome 1 1 COG4 (7) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation SLC35A1-congenital disorder of glycosylation 1 1 SLC35A1 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation SRD5A3-congenital disorder of glycosylation 1 1 SRD5A3 (6) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation STT3A-congenital disorder of glycosylation 1 1 STT3A (5) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation Intellectual developmental disorder seizures behavioral 1 1 ALG14 (4) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation Intermittent porphyria 1 1 HMBS (3) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation TMEM165-congenital disorder of glycosylation 1 1 TMEM165 (5) 0.01000 1.00000 6.429e-3 7.683e-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 7.683e-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 7.683e-3 Congenital disorder of glycosylation X-linked parkinsonism-spasticity syndrome 1 1 ATP6AP2 (6) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation Parkinsonism with spasticity, x-linked 1 1 ATP6AP2 (5) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation PGM1-congenital disorder of glycosylation 1 1 PGM1 (5) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation MAN1B1-congenital disorder of glycosylation 1 1 MAN1B1 (2) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation MAN2B2 deficiency 1 1 MAN2B2 (4) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation MGAT2-congenital disorder of glycosylation 1 1 MGAT2 (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 1 COG4 (7) 0.01000 1.00000 6.429e-3 7.683e-3 Congenital disorder of glycosylation MOGS-congenital disorder of glycosylation 1 1 MOGS (5) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation MPDU1-congenital disorder of glycosylation 1 1 MPDU1 (6) 0.01000 1.00000 6.429e-3 7.683e-3 5 Congenital disorder of glycosylation MPI-congenital disorder of glycosylation 1 1 MPI (6) 0.01000 1.00000 6.429e-3 7.683e-3 multiple congenital anomalies-hypotonia-seizures syndrome 1 Preeclampsia 1 1 PIGN (2) 0.01010 1.00000 6.364e-3 7.630e-3 Cardiac arrhythmia Trichomegaly 1 1 FGF5 (5) 0.01010 1.00000 6.364e-3 7.630e-3 Preeclampsia Zaki syndrome 1 1 WLS (3) 0.01010 1.00000 6.364e-3 7.630e-3 73 Cardiac arrhythmia intrinsic cardiomyopathy 1 1 PLN (2) 0.01010 1.00000 6.364e-3 7.630e-3 3 Cardiac arrhythmia Lafora body disease 1 1 PRDM8 (3) 0.01010 1.00000 6.364e-3 7.630e-3 Factor x deficiency Preeclampsia 1 1 F10 (4) 0.01010 1.00000 6.364e-3 7.630e-3 frank-ter haar syndrome Preeclampsia 1 1 SH3PXD2B (2) 0.01010 1.00000 6.364e-3 7.630e-3 Cardiac arrhythmia polyglucosan body myopathy type 2 1 1 GYG1 (3) 0.01010 1.00000 6.364e-3 7.630e-3 Cardiac arrhythmia Progressive myoclonic epilepsy with intracellular inclusions 1 1 PRDM8 (3) 0.01010 1.00000 6.364e-3 7.630e-3 Neurodegeneration peripheral neuropathy syndrome Preeclampsia 1 1 CLCN6 (2) 0.01010 1.00000 6.364e-3 7.630e-3 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities Preeclampsia 1 1 CLCN6 (2) 0.01010 1.00000 6.364e-3 7.630e-3 Cardiac arrhythmia ornithine translocase deficiency 1 1 SLC25A15 (2) 0.01010 1.00000 6.364e-3 7.630e-3 Congenital factor x deficiency Preeclampsia 1 1 F10 (4) 0.01010 1.00000 6.364e-3 7.630e-3 Atrial and intestinal dysrhythmia Cardiac arrhythmia 1 1 SGO1 (6) 0.01010 1.00000 6.364e-3 7.630e-3 Boudin-mortier syndrome Preeclampsia 1 1 NPR3 (4) 0.01010 1.00000 6.364e-3 7.630e-3 Alanine-glyoxylate aminotransferase deficiency Cardiac arrhythmia 1 1 AGXT (3) 0.01010 1.00000 6.364e-3 7.630e-3 Congenital cerebellar ataxia Differentiated thyroid carcinoma 1 1 GRM1 (2) 0.01961 0.50000 6.355e-3 7.625e-3 Congenital epithelial dysplasia of intestine Lynch syndrome 1 1 EPCAM (8) 0.01961 0.50000 6.355e-3 7.625e-3 Cystic leukoencephalopathy Lynch syndrome 1 1 RNASET2 (4) 0.01961 0.50000 6.355e-3 7.625e-3 39 Interstitial nephritis Lynch syndrome 1 1 FAN1 (5) 0.01961 0.50000 6.355e-3 7.625e-3 Lynch syndrome Sveinsson chorioretinal atrophy 1 1 SEMA4A (2) 0.01961 0.50000 6.355e-3 7.625e-3 Cholangitis Epidermodysplasia verruciformis 1 1 MST1 (3) 0.04762 0.14286 6.348e-3 7.620e-3 Adrenal gland neoplasms Congenital epicanthus 1 1 TCF4 (2) 0.04762 0.14286 6.348e-3 7.620e-3 Albinism Glomerulonephritis 1 1 TPCN2 (2) 0.01020 1.00000 6.300e-3 7.562e-3 Antibody deficiency Glomerulonephritis 1 1 CD19 (2) 0.01020 1.00000 6.300e-3 7.562e-3 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Essential tremor 1 1 NLRP1 (4) 0.01020 1.00000 6.300e-3 7.562e-3 Chromosome 2p16.3 deletion syndrome Glomerulonephritis 1 1 NRXN1 (3) 0.01020 1.00000 6.300e-3 7.562e-3 Carnosinemia Glomerulonephritis 1 0 CNDP1 (1) 0.01020 1.00000 6.300e-3 7.562e-3 developmental and epileptic encephalopathy, 41 Essential tremor 1 1 SLC1A2 (2) 0.01020 1.00000 6.300e-3 7.562e-3 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Glomerulonephritis 1 1 UCHL1 (4) 0.01020 1.00000 6.300e-3 7.562e-3 Autoinflammation with arthritis and dyskeratosis Essential tremor 1 1 NLRP1 (5) 0.01020 1.00000 6.300e-3 7.562e-3 Glomerulonephritis immunodeficiency, common variable, 3 1 1 CD19 (2) 0.01020 1.00000 6.300e-3 7.562e-3 Essential tremor neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1 1 GEMIN5 (2) 0.01020 1.00000 6.300e-3 7.562e-3 Glomerulonephritis Microscopic polyangiitis 1 0 CDH19 (1) 0.01020 1.00000 6.300e-3 7.562e-3 46 Glomerulonephritis systemic lupus erythematosus related to C1QA 1 1 C1QA (2) 0.01020 1.00000 6.300e-3 7.562e-3 Essential tremor Tongue disorder 1 0 ESRRG (1) 0.01020 1.00000 6.300e-3 7.562e-3 Glomerulonephritis Retrograde amnesia 1 1 PREP (2) 0.01020 1.00000 6.300e-3 7.562e-3 Essential tremor Serrated polyposis 1 1 RNF43 (2) 0.01020 1.00000 6.300e-3 7.562e-3 Essential tremor sessile serrated polyposis cancer syndrome 1 1 RNF43 (2) 0.01020 1.00000 6.300e-3 7.562e-3 Glomerulonephritis phosphohydroxylysinuria 1 1 PHYKPL (2) 0.01020 1.00000 6.300e-3 7.562e-3 46 Bifid uvula Neural tube defect 1 1 GRHL3 (2) 0.02000 0.50000 6.225e-3 7.480e-3 Acid-base disorder Genetic predisposition to disease 1 1 ADH1B (2) 0.02000 0.50000 6.225e-3 7.480e-3 Chromosome 2q37 deletion syndrome Mixed connective tissue disease 1 1 HDAC4 (5) 0.03571 0.25000 6.221e-3 7.475e-3 Very long chain acyl-coa dehydrogenase deficiency Williams syndrome 1 1 DLG4 (2) 0.03571 0.25000 6.221e-3 7.475e-3 Hydrops fetalis Monomelic amyotrophy 1 0 RYR3 (1) 0.04545 0.16667 6.219e-3 7.475e-3 immunodeficiency 122 Lewy body disease 1 1 POLD3 (2) 0.01042 1.00000 6.170e-3 7.415e-3 HAVCR2-related cancer predisposition Lewy body disease 1 1 HAVCR2 (2) 0.01042 1.00000 6.170e-3 7.415e-3 hereditary sensory and autonomic neuropathy type 4 Lewy body disease 1 1 NTRK1 (3) 0.01042 1.00000 6.170e-3 7.415e-3 hermansky-pudlak syndrome 5 Lewy body disease 1 1 HPS5 (2) 0.01042 1.00000 6.170e-3 7.415e-3 high myopia-sensorineural deafness syndrome Lewy body disease 1 1 SLITRK6 (2) 0.01042 1.00000 6.170e-3 7.415e-3 Hypochromic sideroblastic anemia Lewy body disease 1 1 STEAP3 (6) 0.01042 1.00000 6.170e-3 7.415e-3 Deafness and myopia Lewy body disease 1 1 SLITRK6 (4) 0.01042 1.00000 6.170e-3 7.415e-3 2-methylbutyryl-coa dehydrogenase deficiency Lewy body disease 1 1 ACADSB (5) 0.01042 1.00000 6.170e-3 7.415e-3 Brain cancer Burkitt lymphoma 1 1 CCT6B (2) 0.04167 0.20000 6.155e-3 7.401e-3 Brain cancer Periodontal disease 1 0 FCHO2 (1) 0.04167 0.20000 6.155e-3 7.401e-3 Bothnia retinal dystrophy Eye disease 1 1 RLBP1 (6) 0.01053 1.00000 6.105e-3 7.341e-3 Eye disease Troyer syndrome 1 1 SPART (4) 0.01053 1.00000 6.105e-3 7.341e-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 7.341e-3 Eye disease RLBP1-related retinopathy 1 1 RLBP1 (3) 0.01053 1.00000 6.105e-3 7.341e-3 Lafora disease Rolandic epilepsy 1 1 EPM2A (4) 0.02041 0.50000 6.096e-3 7.332e-3 Lymphatic system disease Rolandic epilepsy 1 0 PTPRM (1) 0.02041 0.50000 6.096e-3 7.332e-3 Microcephaly, epilepsy, and diabetes syndrome Rolandic epilepsy 1 1 IER3IP1 (5) 0.02041 0.50000 6.096e-3 7.332e-3 Genetic recurrent myoglobinuria Neoplasms 1 1 LPIN1 (2) 0.02041 0.50000 6.096e-3 7.332e-3 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Rolandic epilepsy 1 1 IER3IP1 (3) 0.02041 0.50000 6.096e-3 7.332e-3 Camos syndrome Mitral valve prolapse 1 1 ZNF592 (2) 0.02041 0.50000 6.096e-3 7.332e-3 C syndrome Digestive system disease 1 1 CD96 (7) 0.01064 1.00000 6.040e-3 7.268e-3 Axonal neuropathy Digestive system disease 1 0 GBF1 (1) 0.01064 1.00000 6.040e-3 7.268e-3 congenital disorder of glycosylation, type iit Fatty liver 1 1 GALNT2 (2) 0.01064 1.00000 6.040e-3 7.268e-3 Abetalipoproteinemia Fatty liver 1 1 MTTP (3) 0.01064 1.00000 6.040e-3 7.268e-3 Digestive system disease Dock2 deficiency 1 1 DOCK2 (4) 0.01064 1.00000 6.040e-3 7.268e-3 Corticosteroid-binding globulin deficiency Fatty liver 1 1 SERPINA6 (6) 0.01064 1.00000 6.040e-3 7.268e-3 Fatty liver Oxysterol accumulation disorder 1 1 CYP7B1 (3) 0.01064 1.00000 6.040e-3 7.268e-3 Fatty liver long chain 3-hydroxyacyl-coa dehydrogenase deficiency 1 1 HADHA (2) 0.01064 1.00000 6.040e-3 7.268e-3 Fatty liver mitochondrial trifunctional protein deficiency 1 1 HADHB (3) 0.01064 1.00000 6.040e-3 7.268e-3 Fatty liver Mucoepithelial dysplasia 1 1 SREBF1 (3) 0.01064 1.00000 6.040e-3 7.268e-3 Digestive system disease Intestinal dysmotility syndrome 1 1 ANO1 (4) 0.01064 1.00000 6.040e-3 7.268e-3 Digestive system disease Isolated anhidrosis 1 1 ITPR2 (3) 0.01064 1.00000 6.040e-3 7.268e-3 Digestive system disease nephrotic syndrome 14 1 1 SGPL1 (2) 0.01064 1.00000 6.040e-3 7.268e-3 Digestive system disease nizon-isidor syndrome 1 1 MED12L (2) 0.01064 1.00000 6.040e-3 7.268e-3 Fatty liver Urban-schosser-spohr syndrome 1 1 SREBF1 (2) 0.01064 1.00000 6.040e-3 7.268e-3 Fatty liver X-linked ichthyosis with steryl-sulfatase deficiency 1 1 STS (3) 0.01064 1.00000 6.040e-3 7.268e-3 Congenital microcephaly Pseudo-torch syndrome 1 1 OCLN (6) 0.02941 0.33333 6.028e-3 7.260e-3 Distal spinal muscular atrophy multiple acyl-CoA dehydrogenase deficiency 1 1 ETFDH (2) 0.02941 0.33333 6.028e-3 7.260e-3 13 Auditory neuropathy Genetic neurodegenerative disease 1 0 KIF5A (1) 0.02941 0.33333 6.028e-3 7.260e-3 Chromosomal disorder Nasal disorder 1 0 COBL (1) 0.03704 0.25000 5.962e-3 7.187e-3 Conjunctival disease Myelodysplastic syndrome 1 1 DAPK1 (2) 0.02083 0.50000 5.966e-3 7.187e-3 Autonomic nervous system disease Immune system disease 1 0 ELMO1 (1) 0.02083 0.50000 5.966e-3 7.187e-3 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Thyroid neoplasms 1 1 TPR (2) 0.02083 0.50000 5.966e-3 7.187e-3 Encephalopathy due to mitochondrial and peroxisomal fission defect Ventricular dysfunction 1 1 MFF (2) 0.02083 0.50000 5.966e-3 7.187e-3 Cerebral palsy Congenital anosmia 1 1 TENM1 (2) 0.02083 0.50000 5.966e-3 7.187e-3 Anosmia Cerebral palsy 1 1 TENM1 (2) 0.02083 0.50000 5.966e-3 7.187e-3 Aortic valve stenosis Retinal detachment 1 0 ANKRD7 (1) 0.02083 0.50000 5.966e-3 7.187e-3 Primary hypertrophic osteoarthropathy Thyroid neoplasms 1 1 HPGD (6) 0.02083 0.50000 5.966e-3 7.187e-3 Intellectual developmental disorder seizures speech Thyroid neoplasms 1 1 PAK1 (4) 0.02083 0.50000 5.966e-3 7.187e-3 Hemorrhagic stroke Thyroid neoplasms 1 1 PDGFA (2) 0.02083 0.50000 5.966e-3 7.187e-3 Myelodysplastic syndrome Temple syndrome 1 1 DLK1 (3) 0.02083 0.50000 5.966e-3 7.187e-3 Urticaria Vitreous body disease 1 0 CNTRL (1) 0.02083 0.50000 5.966e-3 7.187e-3 Sialidosis Small cell lung carcinoma 1 1 NEU1 (6) 0.01087 1.00000 5.910e-3 7.124e-3 Nasopalpebral lipoma-coloboma syndrome Small cell lung carcinoma 1 1 ZDBF2 (3) 0.01087 1.00000 5.910e-3 7.124e-3 214 ciliary dyskinesia, primary, 47, and lissencephaly Small cell lung carcinoma 1 1 TP73 (2) 0.01087 1.00000 5.910e-3 7.124e-3 Congenital sialidosis Small cell lung carcinoma 1 1 NEU1 (3) 0.01087 1.00000 5.910e-3 7.124e-3 Corticobasal degeneration Costello syndrome 1 1 SOS1 (3) 0.05000 0.14286 5.896e-3 7.109e-3 49 Epidermodysplasia verruciformis Thyroid gland neoplasms 1 1 RHOH (4) 0.05000 0.14286 5.896e-3 7.109e-3 Optic neuritis Sensory peripheral neuropathy 1 0 ATP7B (1) 0.05000 0.14286 5.896e-3 7.109e-3 Congenital heart malformation Semilobar holoprosencephaly 1 1 FOXH1 (3) 0.04348 0.20000 5.832e-3 7.049e-3 110 Dowling degos disease Junctional epidermolysis bullosa 1 1 KRT5 (6) 0.04348 0.20000 5.832e-3 7.049e-3 Cerebellar atrophy Marinesco-sjogren syndrome 1 1 SIL1 (6) 0.03030 0.33333 5.834e-3 7.049e-3 Non-immune hydrops fetalis Noonan syndrome-like disorder with loose anagen hair 1 1 SHOC2 (2) 0.02128 0.50000 5.837e-3 7.049e-3 49 Fetal erythroblastosis Thrombosis 1 1 FCGR2A (2) 0.02128 0.50000 5.837e-3 7.049e-3 36 Bronchopulmonary dysplasia Chromosome 16p11.2 deletion syndrome 1 0 SFTPA1 (1) 0.02128 0.50000 5.837e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 36, x-linked 1 1 DNAAF6 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia ciliary dyskinesia, primary, 38 1 1 CFAP300 (7) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 40 1 1 DNAH9 (6) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 41 1 1 GAS2L2 (6) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 42 1 1 MCIDAS (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia ciliary dyskinesia, primary, 43 1 1 FOXJ1 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia ciliary dyskinesia, primary, 44 1 1 NEK10 (6) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 45 1 1 TTC12 (6) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 46 1 1 STK36 (6) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 47, and lissencephaly 1 1 TP73 (4) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia ciliary dyskinesia, primary, 48, without situs inversus 1 1 NME5 (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia ciliary dyskinesia, primary, 49, without situs inversus 1 1 CFAP74 (5) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia ciliary dyskinesia, primary, 53 1 1 CLXN (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia ciliary dyskinesia, primary, 54 1 1 CFAP54 (4) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia dilated cardiomyopathy 1FF 1 1 TNNI3 (2) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia dilated cardiomyopathy 2A 1 1 TNNI3 (2) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia Cohen syndrome 1 1 VPS13B (7) 0.01099 1.00000 5.845e-3 7.049e-3 Brachial plexus neuritis Gestational diabetes 1 1 SEPTIN9 (3) 0.01099 1.00000 5.845e-3 7.049e-3 congenital myopathy with myasthenic-like onset Gestational diabetes 1 1 PAX7 (2) 0.01099 1.00000 5.845e-3 7.049e-3 Deafness and myopia Gestational diabetes 1 1 SLITRK6 (4) 0.01099 1.00000 5.845e-3 7.049e-3 gaze palsy, familial horizontal, with progressive scoliosis 1 Gestational diabetes 1 1 ROBO3 (2) 0.01099 1.00000 5.845e-3 7.049e-3 genitourinary and/or brain malformation syndrome Gestational diabetes 1 1 PPP1R12A (2) 0.01099 1.00000 5.845e-3 7.049e-3 182 Ciliary dyskinesia glutaryl-CoA dehydrogenase deficiency 1 1 GCDH (2) 0.01099 1.00000 5.845e-3 7.049e-3 Gestational diabetes TSPAN12-related exudative vitreoretinopathy 1 1 TSPAN12 (2) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia Young syndrome 1 1 CFAP221 (5) 0.01099 1.00000 5.845e-3 7.049e-3 Gestational diabetes high myopia-sensorineural deafness syndrome 1 1 SLITRK6 (2) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 1 1 1 DNAI1 (5) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 10 1 1 DNAAF2 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 11 1 1 RSPH4A (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 12 1 1 RSPH9 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 13 1 1 DNAAF1 (6) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 14 1 1 CCDC39 (7) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 16 1 1 DNAL1 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 17 1 1 DNAAF19 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 18 1 1 DNAAF5 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 19 1 1 DNAAF11 (7) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 2 1 1 DNAAF3 (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 20 1 1 ODAD1 (7) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 21 1 1 DRC1 (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 22 1 1 ZMYND10 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 23 1 1 ODAD2 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 24 1 1 RSPH1 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 25 1 1 DNAAF4 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 26 1 1 CFAP298 (8) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 27 1 1 DRC2 (5) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 28 1 1 SPAG1 (8) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 29 1 1 CCNO (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 30 1 1 ODAD3 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 32 1 1 RSPH3 (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 33 1 1 DRC4 (7) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 34 1 1 DNAJB13 (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Ciliary dyskinesia primary ciliary dyskinesia 35 1 1 ODAD4 (7) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 5 1 1 HYDIN (7) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia primary ciliary dyskinesia 9 1 1 DNAI2 (6) 0.01099 1.00000 5.845e-3 7.049e-3 9 Gestational diabetes Prolidase deficiency 1 1 PEPD (3) 0.01099 1.00000 5.845e-3 7.049e-3 Gestational diabetes Neuralgic amyotrophy 1 1 SEPTIN9 (4) 0.01099 1.00000 5.845e-3 7.049e-3 Gestational diabetes renal hypomagnesemia 3 1 1 CLDN16 (2) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia spermatogenic failure 18 1 1 DNAH1 (6) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia spermatogenic failure 46 1 1 DNAH8 (2) 0.01099 1.00000 5.845e-3 7.049e-3 Ciliary dyskinesia spermatogenic failure 56 1 1 DNAH10 (3) 0.01099 1.00000 5.845e-3 7.049e-3 Dupuytren contracture spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 1 1 DDR2 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked syndromic X-linked intellectual disability Nascimento type 1 1 UBE2A (4) 0.01111 1.00000 5.780e-3 6.997e-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 6.997e-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 6.997e-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 6.997e-3 Hemorrhoid hereditary mixed polyposis syndrome 1 1 GREM1 (2) 0.01111 1.00000 5.780e-3 6.997e-3 HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome Hyperalgesia 1 1 HMGB1 (2) 0.01111 1.00000 5.780e-3 6.997e-3 hsd10 mitochondrial disease Intellectual developmental disorder, x-linked 1 1 HSD17B10 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Dupuytren contracture temtamy preaxial brachydactyly syndrome 1 1 CHSY1 (2) 0.01111 1.00000 5.780e-3 6.997e-3 303 Intellectual developmental disorder, x-linked Vacterl-hydrocephalus syndrome 1 0 FANCB (1) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked Waisman syndrome 1 1 RAB39B (5) 0.01111 1.00000 5.780e-3 6.997e-3 Dupuytren contracture Warburg-cinotti syndrome 1 1 DDR2 (5) 0.01111 1.00000 5.780e-3 6.997e-3 Dupuytren contracture Winchester syndrome 1 1 MMP14 (6) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked X-linked dystonia-parkinsonism 1 1 TAF1 (7) 0.01111 1.00000 5.780e-3 6.997e-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 6.997e-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 6.997e-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 6.997e-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 6.997e-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 6.997e-3 129 Intellectual developmental disorder, x-linked X-linked intellectual disability, Cabezas type 1 1 CUL4B (4) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked X-linked myopathy with excessive autophagy 1 1 RPL10 (6) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked X-linked parkinsonism-spasticity syndrome 1 1 ATP6AP2 (6) 0.01111 1.00000 5.780e-3 6.997e-3 Dupuytren contracture macular corneal dystrophy 1 1 CHST6 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Hemorrhoid MERTK-related retinopathy 1 1 MERTK (2) 0.01111 1.00000 5.780e-3 6.997e-3 Erythrocyte amp deaminase deficiency Hemorrhoid 1 1 AMPD3 (5) 0.01111 1.00000 5.780e-3 6.997e-3 fanconi anemia complementation group b Intellectual developmental disorder, x-linked 1 1 FANCB (2) 0.01111 1.00000 5.780e-3 6.997e-3 Hemorrhoid ichthyosiform erythroderma, corneal involvement, and hearing loss 1 1 AP1B1 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Dupuytren contracture Intellectual developmental disorder hypotonia behavioral 1 1 CDK8 (4) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked intellectual disability, X-linked 106 1 1 OGT (5) 0.01111 1.00000 5.780e-3 6.997e-3 129 Intellectual developmental disorder, x-linked intellectual disability, X-linked 107 1 1 STEEP1 (5) 0.01111 1.00000 5.780e-3 6.997e-3 Hemorrhoid Intestinal dysmotility syndrome 1 1 ANO1 (4) 0.01111 1.00000 5.780e-3 6.997e-3 Hemorrhoid myopathy, centronuclear, 6, with fiber-type disproportion 1 1 MAP3K20 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Dupuytren contracture neuropathy, hereditary sensory, type 1D 1 1 ATL1 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked Parkinsonism with cognitive impairment 1 1 RAB39B (5) 0.01111 1.00000 5.780e-3 6.997e-3 Intellectual developmental disorder, x-linked Parkinsonism with spasticity, x-linked 1 1 ATP6AP2 (3) 0.01111 1.00000 5.780e-3 6.997e-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 6.997e-3 Chung-jansen syndrome Intellectual developmental disorder, x-linked 1 1 PHIP (2) 0.01111 1.00000 5.780e-3 6.997e-3 ATP6AP2-related disorder Intellectual developmental disorder, x-linked 1 1 ATP6AP2 (4) 0.01111 1.00000 5.780e-3 6.997e-3 Aarskog-scott syndrome, x-linked Intellectual developmental disorder, x-linked 1 1 FGD1 (3) 0.01111 1.00000 5.780e-3 6.997e-3 Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome Hyperalgesia 1 1 HMGB1 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Developmental delay with intellectual disability and obesity Intellectual developmental disorder, x-linked 1 1 PHIP (2) 0.01111 1.00000 5.780e-3 6.997e-3 Early-onset parkinsonism-intellectual disability syndrome Intellectual developmental disorder, x-linked 1 1 RAB39B (7) 0.01111 1.00000 5.780e-3 6.997e-3 Common atrium Dupuytren contracture 1 1 CDK8 (2) 0.01111 1.00000 5.780e-3 6.997e-3 congenital disorder of glycosylation type II Intellectual developmental disorder, x-linked 1 1 ATP6AP1 (2) 0.01111 1.00000 5.780e-3 6.997e-3 Congenital cataract hearing loss developmental delay syndrome Partial epilepsy 1 1 SLC33A1 (3) 0.02174 0.50000 5.707e-3 6.927e-3 223 Conjunctival disease Salivary gland neoplasms 1 1 DAPK1 (2) 0.02174 0.50000 5.707e-3 6.927e-3 Diaphragm disease Salivary gland neoplasms 1 1 WNT5B (2) 0.02174 0.50000 5.707e-3 6.927e-3 Macular dystrophy Thyroid hormone resistance 1 1 THRB (5) 0.02174 0.50000 5.707e-3 6.927e-3 Sialolithiasis Treacher collins syndrome 1 1 POLR1D (8) 0.03846 0.25000 5.703e-3 6.924e-3 Obstructive azoospermia Sinusitis 1 1 CFTR (2) 0.03846 0.25000 5.703e-3 6.924e-3 Congenital chloride diarrhea Iron metabolism disorder 1 1 MON1A (2) 0.03846 0.25000 5.703e-3 6.924e-3 Brain aneurysm Cerebellar vermis atrophy 1 1 SYN3 (2) 0.01136 1.00000 5.650e-3 6.860e-3 Brain aneurysm primary ciliary dyskinesia 12 1 1 RSPH9 (2) 0.01136 1.00000 5.650e-3 6.860e-3 Brain aneurysm Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 1 1 GBA1 (4) 0.01136 1.00000 5.650e-3 6.860e-3 Brain aneurysm holocarboxylase synthetase deficiency 1 1 HLCS (2) 0.01136 1.00000 5.650e-3 6.860e-3 272 Brain aneurysm Tongue disorder 1 0 ESRRG (1) 0.01136 1.00000 5.650e-3 6.860e-3 Brain aneurysm Uterine benign neoplasm 1 0 BET1L (1) 0.01136 1.00000 5.650e-3 6.860e-3 Mitochondrial dna depletion syndrome Navajo neurohepatopathy 1 1 MPV17 (5) 0.03125 0.33333 5.640e-3 6.850e-3 Desbuquois dysplasia Duchenne muscular dystrophy 1 1 XYLT1 (4) 0.03125 0.33333 5.640e-3 6.850e-3 Congenital myasthenic syndrome Cystine urolithiasis 1 1 PREPL (2) 0.03125 0.33333 5.640e-3 6.850e-3 Corticosteroid-binding globulin deficiency Fatty liver, alcoholic 1 1 SERPINA6 (6) 0.01149 1.00000 5.585e-3 6.785e-3 Abetalipoproteinemia Fatty liver, alcoholic 1 1 MTTP (2) 0.01149 1.00000 5.585e-3 6.785e-3 Fatty liver, alcoholic Urban-schosser-spohr syndrome 1 0 SREBF1 (1) 0.01149 1.00000 5.585e-3 6.785e-3 Fatty liver, alcoholic X-linked ichthyosis with steryl-sulfatase deficiency 1 1 STS (2) 0.01149 1.00000 5.585e-3 6.785e-3 Fatty liver, alcoholic Oxysterol accumulation disorder 1 1 CYP7B1 (2) 0.01149 1.00000 5.585e-3 6.785e-3 Fatty liver, alcoholic long chain 3-hydroxyacyl-coa dehydrogenase deficiency 1 1 HADHA (2) 0.01149 1.00000 5.585e-3 6.785e-3 Fatty liver, alcoholic mitochondrial trifunctional protein deficiency 1 1 HADHB (2) 0.01149 1.00000 5.585e-3 6.785e-3 Fatty liver, alcoholic Mucoepithelial dysplasia 1 1 SREBF1 (2) 0.01149 1.00000 5.585e-3 6.785e-3 Nasopharyngeal neoplasms Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 1 TREM2 (7) 0.02222 0.50000 5.578e-3 6.779e-3 Marfan syndrome Progressive arterial occlusive disease with hypertension 1 1 YY1AP1 (2) 0.02222 0.50000 5.578e-3 6.779e-3 Hepatic veno occlusive disease with immunodeficiency Leukemia 1 1 SP140 (2) 0.02222 0.50000 5.578e-3 6.779e-3 Coffin-siris syndrome Upper extremity fracture 1 1 ARID1A (6) 0.04545 0.20000 5.509e-3 6.696e-3 Cardiomegaly thrombocytopenia 6 1 1 SRC (2) 0.01176 1.00000 5.455e-3 6.632e-3 Cardiomegaly HAND2 related congenital heart defect 1 1 HAND2 (2) 0.01176 1.00000 5.455e-3 6.632e-3 372 histidinemia Skin cancer 1 1 HAL (2) 0.01176 1.00000 5.455e-3 6.632e-3 16 Anemia Hypochromic anemia 1 0 SLC11A2 (1) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia Serrated polyposis 1 1 RNF43 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia sessile serrated polyposis cancer syndrome 1 1 RNF43 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia spinocerebellar ataxia, autosomal recessive 31 1 1 ATG7 (3) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 1 1 ITGA3 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia Malabsorption syndrome 1 1 SLC46A1 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Cerebrovascular disorder platelet-type bleeding disorder 8 1 1 P2RY12 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Cardiomegaly PLD1-related congenital heart disease 1 1 PLD1 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Cardiomegaly polyglucosan body myopathy 1 with or without immunodeficiency 1 1 RBCK1 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Cerebrovascular disorder PRPF8-related retinopathy 1 1 PRPF8 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Cardiomegaly immunodeficiency 97 with autoinflammation 1 1 PIK3CG (2) 0.01176 1.00000 5.455e-3 6.632e-3 Cardiomegaly Isolated anhidrosis 1 1 ITPR2 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Albinism Skin cancer 1 1 TPCN2 (2) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia Congenital folate absorption defect 1 1 SLC46A1 (3) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome 1 0 ITGA3 (1) 0.01176 1.00000 5.455e-3 6.632e-3 Anemia Congenital phimosis 1 0 ITGA3 (1) 0.01176 1.00000 5.455e-3 6.632e-3 Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome Ventricular septal defect 1 1 DPH2 (2) 0.02273 0.50000 5.448e-3 6.630e-3 Brain disease Cystic leukoencephalopathy 1 1 RNASET2 (5) 0.02273 0.50000 5.448e-3 6.630e-3 Developmental delay with short stature and dysmorphic facial features Ventricular septal defect 1 1 DPH2 (3) 0.02273 0.50000 5.448e-3 6.630e-3 Intellectual developmental disorder seizures speech Proteinuria 1 1 PAK1 (4) 0.02273 0.50000 5.448e-3 6.630e-3 20 Fetal erythroblastosis Lupus nephritis 1 0 FCGR2A (1) 0.02273 0.50000 5.448e-3 6.630e-3 Brain disease Whim syndrome 1 1 CXCR2 (5) 0.02273 0.50000 5.448e-3 6.630e-3 Hypospadias X-linked myotubular myopathy 1 1 MAMLD1 (6) 0.02273 0.50000 5.448e-3 6.630e-3 Brachydactyly Chromosome 2q37 deletion syndrome 1 1 HDAC4 (4) 0.04000 0.25000 5.445e-3 6.630e-3 Citrullinemia Diabetic angiopathies 1 1 ASS1 (7) 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 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 Congenital pes cavus hearing loss, autosomal recessive 1 1 PTPRQ (2) 0.05263 0.14286 5.444e-3 6.630e-3 Bilirubin metabolism disease Kleine-levin syndrome 1 1 TRANK1 (3) 0.05263 0.14286 5.444e-3 6.630e-3 Adrenal gland neoplasms Corneal disease 1 0 TCF4 (1) 0.05263 0.14286 5.444e-3 6.630e-3 283 Adrenal gland neoplasms Paranoia 1 1 TCF4 (2) 0.05263 0.14286 5.444e-3 6.630e-3 283 Cardiofaciocutaneous syndrome Corticobasal degeneration 1 1 SOS1 (3) 0.05263 0.14286 5.444e-3 6.630e-3 49 Adams-oliver syndrome Congenital hydrocephalus 1 1 DOCK6 (3) 0.05000 0.16667 5.444e-3 6.630e-3 Adams-oliver syndrome Bicuspid aortic valve 1 1 NOTCH1 (4) 0.05000 0.16667 5.444e-3 6.630e-3 Age-related macular degeneration Cerebellar vermis atrophy 1 1 SYN3 (2) 0.01190 1.00000 5.390e-3 6.567e-3 Age-related macular degeneration Congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 1 CYP21A2 (5) 0.01190 1.00000 5.390e-3 6.567e-3 Age-related macular degeneration neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 1 1 TNR (2) 0.01190 1.00000 5.390e-3 6.567e-3 Age-related macular degeneration primary angle-closure glaucoma 1 1 SPATA13 (2) 0.01190 1.00000 5.390e-3 6.567e-3 nonsyndromic genetic hearing loss Peripheral neuropathy myopathy hoarseness hearing loss syndrome 1 1 MYH14 (2) 0.01205 1.00000 5.325e-3 6.490e-3 nonsyndromic genetic hearing loss Peripheral neuropathy, myopathy, hoarseness, and hearing 1 1 MYH14 (5) 0.01205 1.00000 5.325e-3 6.490e-3 Idiopathic pulmonary fibrosis interstitial lung disease 1 1 1 SFTPA1 (3) 0.01205 1.00000 5.325e-3 6.490e-3 Idiopathic pulmonary fibrosis interstitial lung disease 2 1 1 SFTPA2 (5) 0.01205 1.00000 5.325e-3 6.490e-3 Idiopathic pulmonary fibrosis isovaleric acidemia 1 1 IVD (2) 0.01205 1.00000 5.325e-3 6.490e-3 Bone disease frank-ter haar syndrome 1 1 SH3PXD2B (2) 0.01205 1.00000 5.325e-3 6.490e-3 nonsyndromic genetic hearing loss Sensorineural deafness with dilated cardiomyopathy 1 1 EYA4 (3) 0.01205 1.00000 5.325e-3 6.490e-3 Bone disease spondyloepimetaphyseal dysplasia, genevieve type 1 1 NANS (2) 0.01205 1.00000 5.325e-3 6.490e-3 hearing impairment and infertile male syndrome nonsyndromic genetic hearing loss 1 0 CDC14A (1) 0.01205 1.00000 5.325e-3 6.490e-3 Congenital ichthyosis with hypotrichosis syndrome Idiopathic pulmonary fibrosis 1 1 ST14 (2) 0.01205 1.00000 5.325e-3 6.490e-3 21q22.11q22.12 microdeletion syndrome Idiopathic pulmonary fibrosis 1 1 KIF15 (3) 0.01205 1.00000 5.325e-3 6.490e-3 Arthrogryposis with ectodermal dysplasia nonsyndromic genetic hearing loss 1 1 OTOF (2) 0.01205 1.00000 5.325e-3 6.490e-3 dilated cardiomyopathy 1J nonsyndromic genetic hearing loss 1 0 EYA4 (1) 0.01205 1.00000 5.325e-3 6.490e-3 Bone disease Caudal duplication anomaly 1 1 AXIN1 (6) 0.01205 1.00000 5.325e-3 6.490e-3 Bone disease Cerebrofaciothoracic dysplasia 1 1 TMCO1 (3) 0.01205 1.00000 5.325e-3 6.490e-3 Bone disease Cerebrotendinous xanthomatosis 1 1 CYP27A1 (5) 0.01205 1.00000 5.325e-3 6.490e-3 Bone disease Cholestanol storage disease 1 1 CYP27A1 (2) 0.01205 1.00000 5.325e-3 6.490e-3 Cortical dysplasia-focal epilepsy syndrome Idiopathic pulmonary fibrosis 1 1 CNTNAP2 (4) 0.01205 1.00000 5.325e-3 6.490e-3 Bone disease Craniometadiaphyseal osteosclerosis with hip dysplasia 1 1 AXIN1 (4) 0.01205 1.00000 5.325e-3 6.490e-3 Braddock-carey syndrome Idiopathic pulmonary fibrosis 1 1 KIF15 (4) 0.01205 1.00000 5.325e-3 6.490e-3 Catel-manzke syndrome Neurodegenerative disorder 1 1 KYNU (2) 0.02326 0.50000 5.318e-3 6.489e-3 Masp2 deficiency Neurodegenerative disorder 1 1 TARDBP (2) 0.02326 0.50000 5.318e-3 6.489e-3 Tooth agenesis X-linked hypohidrotic ectodermal dysplasia 1 1 EDA (7) 0.02326 0.50000 5.318e-3 6.489e-3 76 Obstructive sleep apnea syndrome Tetany 1 1 CNNM2 (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 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 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 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 fanconi anemia complementation group d2 Kidney cancer 1 1 FANCD2 (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 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 Aortic valve disease Short stature spectrum 1 1 ACAN (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 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 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 Camptodactyly Kidney cancer 1 1 TLN2 (3) 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 Bladder exstrophy and epispadias complex Carpenter syndrome 1 1 RAB23 (4) 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 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 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 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 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 Degenerative disorder Seborrhea-like dermatitis with psoriasiform elements 1 0 TBCD (1) 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 Machado-joseph disease Omenn syndrome 1 1 IFTAP (2) 0.05556 0.12500 5.185e-3 6.342e-3 Aneuploidy Lymphedema 1 1 KIF11 (2) 0.04762 0.20000 5.185e-3 6.342e-3 Congenital heart malformation Microform holoprosencephaly 1 1 FOXH1 (3) 0.04762 0.20000 5.185e-3 6.342e-3 110 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Mitochondrial encephalomyopathy 1 1 SCO2 (3) 0.04762 0.20000 5.185e-3 6.342e-3 62 Developmental disorder Dyshidrosis 1 0 DLG2 (1) 0.04762 0.20000 5.185e-3 6.342e-3 Dental enamel hypoplasia Dyshidrosis 1 0 PTPRD (1) 0.04762 0.20000 5.185e-3 6.342e-3 Bulimia Greither disease 1 1 PERP (2) 0.04167 0.25000 5.186e-3 6.342e-3 Situs inversus Visceral heterotaxy 1 1 CFAP52 (3) 0.04167 0.25000 5.186e-3 6.342e-3 54 Dandy-walker syndrome Ritscher-schinzler syndrome 1 1 DPYSL5 (3) 0.04167 0.25000 5.186e-3 6.342e-3 Hyperopia renal hypomagnesemia 2 1 1 FXYD2 (2) 0.01250 1.00000 5.131e-3 6.277e-3 Hyperopia Primary hypomagnesemia with hypocalciuria 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 Hypochromic sideroblastic anemia 1 1 STEAP3 (6) 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 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 Brachial plexus neuritis Hyperopia 1 1 SEPTIN9 (3) 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 Cholesterol ester storage disease Large artery stroke 1 1 LIPA (6) 0.01266 1.00000 5.066e-3 6.202e-3 Chondrodysplasia-difference of sex development syndrome Large artery stroke 1 1 HHAT (2) 0.01266 1.00000 5.066e-3 6.202e-3 Chondrodysplasia-pseudohypohermaphroditism syndrome Large artery stroke 1 1 HHAT (2) 0.01266 1.00000 5.066e-3 6.202e-3 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Large artery stroke 1 1 ZPR1 (4) 0.01266 1.00000 5.066e-3 6.202e-3 hypomagnesemia, seizures, and intellectual disability 1 Large artery stroke 1 1 CNNM2 (2) 0.01266 1.00000 5.066e-3 6.202e-3 Large artery stroke spondyloepiphyseal dysplasia, kondo-fu type 1 1 MBTPS1 (2) 0.01266 1.00000 5.066e-3 6.202e-3 Large artery stroke leukodystrophy, hypomyelinating, 25 1 1 TMEM163 (2) 0.01266 1.00000 5.066e-3 6.202e-3 Large artery stroke lysosomal acid lipase deficiency 1 1 LIPA (2) 0.01266 1.00000 5.066e-3 6.202e-3 primrose syndrome Stevens-johnson syndrome 1 1 ZBTB20 (2) 0.01266 1.00000 5.066e-3 6.202e-3 Intellectual developmental disorder cataracts myopathy Stevens-johnson syndrome 1 1 ZBTB20 (2) 0.01266 1.00000 5.066e-3 6.202e-3 Stevens-johnson syndrome systemic lupus erythematosus related to C1QA 1 1 C1QA (3) 0.01266 1.00000 5.066e-3 6.202e-3 Large artery stroke Tetany 1 1 CNNM2 (2) 0.01266 1.00000 5.066e-3 6.202e-3 Large artery stroke TTLL5-related retinopathy 1 1 TTLL5 (2) 0.01266 1.00000 5.066e-3 6.202e-3 Large artery stroke Wolman disease 1 1 LIPA (5) 0.01266 1.00000 5.066e-3 6.202e-3 Angiocentric glioma Osteonecrosis 1 1 QKI (2) 0.02439 0.50000 5.059e-3 6.199e-3 Amino acid metabolism disorder Citrullinemia 1 0 SLC25A15 (1) 0.03448 0.33333 5.057e-3 6.197e-3 Leukodystrophy Tay-sachs disease 1 1 HEXA (7) 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 Choroidal melanoma Neuropathy, ataxia, and retinitis pigmentosa 1 1 TDP1 (2) 0.05263 0.16667 5.056e-3 6.196e-3 Adams-oliver syndrome Congenital abnormalities 1 1 NOTCH1 (4) 0.05263 0.16667 5.056e-3 6.196e-3 1p36 deletion syndrome Anal polyp 1 1 CASZ1 (3) 0.05263 0.16667 5.056e-3 6.196e-3 Chromosome 20q11-q12 deletion syndrome Keratinocyte carcinoma 1 1 EPB41L1 (3) 0.01282 1.00000 5.001e-3 6.130e-3 16 Amphetamine or sympathomimetic abuse Congenital microvillous atrophy 1 1 MYO5B (3) 0.01282 1.00000 5.001e-3 6.130e-3 histidinemia Keratinocyte carcinoma 1 1 HAL (2) 0.01282 1.00000 5.001e-3 6.130e-3 16 Amphetamine or sympathomimetic abuse PDE6C-related retinopathy 1 1 PDE6C (3) 0.01282 1.00000 5.001e-3 6.130e-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 6.130e-3 16 Cutaneous lupus erythematosus Peeling skin syndrome 1 1 PSORS1C1 (2) 0.05556 0.14286 4.991e-3 6.120e-3 Post-operative acute kidney injury Renal hypertension 1 1 HSPA8 (2) 0.05556 0.14286 4.991e-3 6.120e-3 Hermansky-pudlak syndrome Sensory peripheral neuropathy 1 1 DTNBP1 (7) 0.05556 0.14286 4.991e-3 6.120e-3 Hyperemesis gravidarum Mouth disease 1 1 GDF15 (4) 0.04348 0.25000 4.927e-3 6.053e-3 Microphthalmia Oculoauricular syndrome 1 1 HMX1 (7) 0.02500 0.50000 4.930e-3 6.053e-3 Dejerine-sottas disease Odontochondrodysplasia 2 with hearing loss and diabetes 1 1 PLEKHG5 (3) 0.02500 0.50000 4.930e-3 6.053e-3 Dejerine-sottas disease Lysine metabolism disorder 1 0 DHTKD1 (1) 0.02500 0.50000 4.930e-3 6.053e-3 Hypertrophic neuropathy Lysine metabolism disorder 1 0 DHTKD1 (1) 0.02500 0.50000 4.930e-3 6.053e-3 Lysine metabolism disorder Roussy-levy syndrome 1 0 DHTKD1 (1) 0.02500 0.50000 4.930e-3 6.053e-3 Cutaneous squamous cell carcinoma methylmalonic aciduria and homocystinuria 1 1 ZNF143 (2) 0.02500 0.50000 4.930e-3 6.053e-3 Dermatitis Microscopic colitis 1 0 CLEC16A (1) 0.02500 0.50000 4.930e-3 6.053e-3 Cone dystrophy Cone-rod synaptic disorder 1 1 CABP4 (4) 0.02500 0.50000 4.930e-3 6.053e-3 Agenesis of corpus callosum Dejerine-sottas disease 1 1 SLC12A6 (2) 0.02500 0.50000 4.930e-3 6.053e-3 Brain neoplasms Conjunctival disease 1 1 DAPK1 (2) 0.02500 0.50000 4.930e-3 6.053e-3 Corpus callosum agenesis neuronopathy syndrome Dejerine-sottas disease 1 1 SLC12A6 (3) 0.02500 0.50000 4.930e-3 6.053e-3 Corpus callosum agenesis neuronopathy syndrome Hypertrophic neuropathy 1 1 SLC12A6 (3) 0.02500 0.50000 4.930e-3 6.053e-3 Corpus callosum agenesis neuronopathy syndrome Roussy-levy syndrome 1 1 SLC12A6 (3) 0.02500 0.50000 4.930e-3 6.053e-3 Dermatitis Diffuse palmoplantar keratoderma 1 1 DSG1 (3) 0.02500 0.50000 4.930e-3 6.053e-3 Dejerine-sottas disease Distal amyotrophy 1 0 DHTKD1 (1) 0.02500 0.50000 4.930e-3 6.053e-3 Dorfman-chanarin disease Inflammatory skin disease 1 1 ABHD5 (3) 0.01299 1.00000 4.936e-3 6.053e-3 Dosage-sensitive sex reversal Hypogonadism 1 1 NR0B1 (2) 0.01299 1.00000 4.936e-3 6.053e-3 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Hypogonadism 1 1 KDF1 (2) 0.01299 1.00000 4.936e-3 6.053e-3 Congenital alpha-2-antiplasmin deficiency Hypogonadism 1 1 SERPINF2 (3) 0.01299 1.00000 4.936e-3 6.053e-3 Congenital central hypothyroidism Intellectual disability 1 0 TRHR (1) 0.01299 1.00000 4.936e-3 6.053e-3 Congenital microtia Inflammatory skin disease 1 1 PRKRA (3) 0.01299 1.00000 4.936e-3 6.053e-3 Baralle-macken syndrome Intellectual disability 1 1 COPB1 (4) 0.01299 1.00000 4.936e-3 6.053e-3 Biotinidase deficiency Inflammatory skin disease 1 1 BTD (8) 0.01299 1.00000 4.936e-3 6.053e-3 Bjornstad syndrome Intellectual disability 1 1 BCS1L (6) 0.01299 1.00000 4.936e-3 6.053e-3 Brachydactyly with hypertension Hypogonadism 1 1 PDE3A (3) 0.01299 1.00000 4.936e-3 6.053e-3 Congenital plasmin inhibitor deficiency Hypogonadism 1 1 SERPINF2 (2) 0.01299 1.00000 4.936e-3 6.053e-3 Cranio-cervical dystonia Inflammatory skin disease 1 1 ANO3 (3) 0.01299 1.00000 4.936e-3 6.053e-3 Chromosome 2p16.3 deletion syndrome Intellectual disability 1 1 NRXN1 (2) 0.01299 1.00000 4.936e-3 6.053e-3 Alpha-2-plasmin inhibitor deficiency Hypogonadism 1 1 SERPINF2 (3) 0.01299 1.00000 4.936e-3 6.053e-3 amyotrophic lateral sclerosis type 15 Hypogonadism 1 1 UBQLN2 (2) 0.01299 1.00000 4.936e-3 6.053e-3 58 Intellectual disability mucopolysaccharidosis type 3B 1 1 NAGLU (2) 0.01299 1.00000 4.936e-3 6.053e-3 Intellectual disability NAA10-related syndrome 1 1 NAA10 (2) 0.01299 1.00000 4.936e-3 6.053e-3 Hydrops with lactic acidosis and sideroblastic anemia Inflammatory skin disease 1 1 LARS2 (6) 0.01299 1.00000 4.936e-3 6.053e-3 Hyperekplexia epilepsy syndrome Hypogonadism 1 1 ARHGEF9 (3) 0.01299 1.00000 4.936e-3 6.053e-3 Hypertension and brachydactyly syndrome Hypogonadism 1 1 PDE3A (2) 0.01299 1.00000 4.936e-3 6.053e-3 Intellectual disability Temple-baraitser syndrome 1 1 KCNH1 (5) 0.01299 1.00000 4.936e-3 6.053e-3 Hypogonadism X-linked adrenal hypoplasia congenita 1 1 NR0B1 (4) 0.01299 1.00000 4.936e-3 6.053e-3 Intellectual disability Partial corpus callosum agenesis 1 1 KPNA7 (2) 0.01299 1.00000 4.936e-3 6.053e-3 Epilepsy due to perinatal stroke Intellectual disability 1 0 ST3GAL3 (1) 0.01299 1.00000 4.936e-3 6.053e-3 glutamate pyruvate transaminase 2 deficiency Intellectual disability 1 1 GPT2 (2) 0.01299 1.00000 4.936e-3 6.053e-3 6 Intellectual disability severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 1 GATAD2B (5) 0.01299 1.00000 4.936e-3 6.053e-3 Intellectual disability spinocerebellar ataxia type 42 1 1 CACNA1G (2) 0.01299 1.00000 4.936e-3 6.053e-3 immunodeficiency 92 Inflammatory skin disease 1 1 REL (2) 0.01299 1.00000 4.936e-3 6.053e-3 intellectual developmental disorder 59 Intellectual disability 1 1 CAMK2G (2) 0.01299 1.00000 4.936e-3 6.053e-3 Intellectual developmental disorder hypotonia spastic sleep Intellectual disability 1 1 ANK3 (3) 0.01299 1.00000 4.936e-3 6.053e-3 Inflammatory skin disease Intellectual developmental disorder neuropsychiatric 1 1 SLC45A1 (4) 0.01299 1.00000 4.936e-3 6.053e-3 14 Intellectual disability Iodide peroxidase deficiency 1 1 TPO (2) 0.01299 1.00000 4.936e-3 6.053e-3 Hypogonadism Isolated follicle-stimulating hormone deficiency 1 1 FSHB (2) 0.01299 1.00000 4.936e-3 6.053e-3 Intellectual disability KCNH1 associated disorder 1 1 KCNH1 (2) 0.01299 1.00000 4.936e-3 6.053e-3 Common variable immunodeficiency IL21-related infantile inflammatory bowel disease 1 1 IL21 (4) 0.01316 1.00000 4.871e-3 5.991e-3 Common variable immunodeficiency immunodeficiency, common variable, 10 1 1 NFKB2 (3) 0.01316 1.00000 4.871e-3 5.991e-3 Common variable immunodeficiency immunodeficiency, common variable, 14 1 1 IRF2BP2 (2) 0.01316 1.00000 4.871e-3 5.991e-3 Common variable immunodeficiency immunodeficiency, common variable, 2 1 1 TNFRSF13B (5) 0.01316 1.00000 4.871e-3 5.991e-3 Common variable immunodeficiency immunodeficiency, common variable, 3 1 1 CD19 (5) 0.01316 1.00000 4.871e-3 5.991e-3 Common variable immunodeficiency immunodeficiency, common variable, 4 1 1 TNFRSF13C (4) 0.01316 1.00000 4.871e-3 5.991e-3 47 Common variable immunodeficiency immunodeficiency, common variable, 5 1 1 MS4A1 (4) 0.01316 1.00000 4.871e-3 5.991e-3 Common variable immunodeficiency immunodeficiency, common variable, 6 1 1 CD81 (5) 0.01316 1.00000 4.871e-3 5.991e-3 47 Common variable immunodeficiency immunodeficiency, common variable, 7 1 1 CR2 (5) 0.01316 1.00000 4.871e-3 5.991e-3 47 Contact dermatitis inherited glutathione synthetase deficiency 1 1 GSS (3) 0.01316 1.00000 4.871e-3 5.991e-3 Common variable immunodeficiency isolated sulfite oxidase deficiency 1 1 SUOX (2) 0.01316 1.00000 4.871e-3 5.991e-3 47 Common variable immunodeficiency severe combined immunodeficiency due to DCLRE1C deficiency 1 1 DCLRE1C (2) 0.01316 1.00000 4.871e-3 5.991e-3 Contact dermatitis stankiewicz-isidor syndrome 1 1 PSMD12 (3) 0.01316 1.00000 4.871e-3 5.991e-3 Anterior pituitary function deficiency with variable immunodeficiency Common variable immunodeficiency 1 1 NFKB2 (4) 0.01316 1.00000 4.871e-3 5.991e-3 Antibody deficiency Common variable immunodeficiency 1 1 CD19 (4) 0.01316 1.00000 4.871e-3 5.991e-3 Diabetic foot Polymorphic catecholaminergic ventricular tachycardia 1 1 TRDN (2) 0.05000 0.20000 4.862e-3 5.987e-3 Congenital heart malformation Syntelencephaly 1 1 FOXH1 (3) 0.05000 0.20000 4.862e-3 5.987e-3 110 Congenital heart malformation Septopreoptic holoprosencephaly 1 1 FOXH1 (3) 0.05000 0.20000 4.862e-3 5.987e-3 110 Paraplegia Rotator cuff tear 1 0 SAP30BP (1) 0.05000 0.20000 4.862e-3 5.987e-3 Oculopharyngodistal myopathy Tremor 1 1 NOTCH2NLC (4) 0.05000 0.20000 4.862e-3 5.987e-3 Iminoglycinuria Macular telangiectasia 1 1 SLC6A20 (4) 0.05000 0.20000 4.862e-3 5.987e-3 Intellectual developmental disorder dysmorphic facial Polymicrogyria 1 1 SETD5 (3) 0.03571 0.33333 4.863e-3 5.987e-3 Chagas cardiomyopathy Rotor syndrome 1 1 SLCO1B1 (4) 0.03571 0.33333 4.863e-3 5.987e-3 Male infertility testicular dysgenesis Oocyte maturation defect 1 1 CHEK1 (3) 0.03571 0.33333 4.863e-3 5.987e-3 Amblyopia Thiamine-responsive maple syrup urine disease 1 1 BCKDHB (2) 0.03571 0.33333 4.863e-3 5.987e-3 Aplasia cutis congenita with epibulbar dermoids Oocyte maturation defect 1 1 NLRP5 (4) 0.03571 0.33333 4.863e-3 5.987e-3 Encephalitis Spondyloepimetaphyseal dysplasia 1 0 ABCD1 (1) 0.03571 0.33333 4.863e-3 5.987e-3 Chagas cardiomyopathy Chudley-mccullough syndrome 1 1 SPTB (2) 0.03571 0.33333 4.863e-3 5.987e-3 271 Autoimmune interstitial lung disease-arthritis syndrome Autoinflammatory syndrome 1 0 NLRP12 (1) 0.02564 0.50000 4.800e-3 5.921e-3 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Glycogen storage disease 1 1 RBCK1 (3) 0.02564 0.50000 4.800e-3 5.921e-3 Autoinflammatory syndrome Candle syndrome 1 0 PSMB8 (1) 0.02564 0.50000 4.800e-3 5.921e-3 Atypical femoral fracture Congenital radioulnar synostosis 1 1 SMAD6 (2) 0.02564 0.50000 4.800e-3 5.921e-3 Odontochondrodysplasia 2 with hearing loss and diabetes Spinal muscular atrophy 1 1 PLEKHG5 (3) 0.02564 0.50000 4.800e-3 5.921e-3 Microscopic colitis Toxic epidermal necrolysis 1 0 MICB (1) 0.02564 0.50000 4.800e-3 5.921e-3 Sandhoff disease Spinal muscular atrophy 1 1 HEXB (7) 0.02564 0.50000 4.800e-3 5.921e-3 Spinal muscular atrophy Testis atrophy 1 1 PLEKHG5 (2) 0.02564 0.50000 4.800e-3 5.921e-3 Cone-rod dystrophy TTLL5-related retinopathy 1 1 TTLL5 (6) 0.01333 1.00000 4.806e-3 5.921e-3 Van esch-o’driscoll syndrome X-linked intellectual disability 1 1 POLA1 (5) 0.01333 1.00000 4.806e-3 5.921e-3 Waisman syndrome X-linked intellectual disability 1 1 RAB39B (5) 0.01333 1.00000 4.806e-3 5.921e-3 Esophageal neoplasms Winchester syndrome 1 1 MMP14 (5) 0.01333 1.00000 4.806e-3 5.921e-3 X-linked creatine transporter deficiency X-linked intellectual disability 1 1 SLC6A8 (2) 0.01333 1.00000 4.806e-3 5.921e-3 X-linked dystonia-parkinsonism X-linked intellectual disability 1 1 TAF1 (4) 0.01333 1.00000 4.806e-3 5.921e-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 5.921e-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 5.921e-3 129 X-linked intellectual disability X-linked intellectual disability-cerebellar hypoplasia syndrome 1 1 OPHN1 (6) 0.01333 1.00000 4.806e-3 5.921e-3 X-linked intellectual disability X-linked intellectual disability, Cabezas type 1 1 CUL4B (4) 0.01333 1.00000 4.806e-3 5.921e-3 X-linked intellectual disability X-linked myopathy with excessive autophagy 1 1 RPL10 (4) 0.01333 1.00000 4.806e-3 5.921e-3 X-linked intellectual disability X-linked parkinsonism-spasticity syndrome 1 1 ATP6AP2 (3) 0.01333 1.00000 4.806e-3 5.921e-3 X-linked intellectual disability X-linked reticulate pigmentary disorder 1 1 POLA1 (5) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy X-linked retinitis pigmentosa 1 0 RP2 (1) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy MERTK-related retinopathy 1 1 MERTK (2) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy IMPG2-related recessive retinopathy 1 1 IMPG2 (2) 0.01333 1.00000 4.806e-3 5.921e-3 intellectual disability, X-linked 107 X-linked intellectual disability 1 1 STEEP1 (3) 0.01333 1.00000 4.806e-3 5.921e-3 Parkinsonism with cognitive impairment X-linked intellectual disability 1 1 RAB39B (3) 0.01333 1.00000 4.806e-3 5.921e-3 Parkinsonism with spasticity, x-linked X-linked intellectual disability 1 1 ATP6AP2 (4) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy PCARE-related retinopathy 1 1 PCARE (2) 0.01333 1.00000 4.806e-3 5.921e-3 7 Cone-rod dystrophy PDE6C-related retinopathy 1 1 PDE6C (2) 0.01333 1.00000 4.806e-3 5.921e-3 Hyperekplexia epilepsy syndrome X-linked intellectual disability 1 1 ARHGEF9 (3) 0.01333 1.00000 4.806e-3 5.921e-3 129 Cone-rod dystrophy optic atrophy 13 with retinal and foveal abnormalities 1 1 SSBP1 (2) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy RAB28-related retinopathy 1 1 RAB28 (7) 0.01333 1.00000 4.806e-3 5.921e-3 7 Cone-rod dystrophy red color blindness 1 1 OPN1LW (4) 0.01333 1.00000 4.806e-3 5.921e-3 renpenning syndrome X-linked intellectual disability 1 1 PQBP1 (5) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy retinitis pigmentosa 65 1 1 CDHR1 (8) 0.01333 1.00000 4.806e-3 5.921e-3 7 Cone-rod dystrophy RP2-related retinopathy 1 1 RP2 (2) 0.01333 1.00000 4.806e-3 5.921e-3 Say meyer syndrome X-linked intellectual disability 1 1 HUWE1 (3) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy short-rib thoracic dysplasia 19 with or without polydactyly 1 1 IFT81 (2) 0.01333 1.00000 4.806e-3 5.921e-3 syndromic X-linked intellectual disability Nascimento type X-linked intellectual disability 1 1 UBE2A (3) 0.01333 1.00000 4.806e-3 5.921e-3 129 syndromic X-linked intellectual disability Raymond type X-linked intellectual disability 1 1 ZDHHC9 (2) 0.01333 1.00000 4.806e-3 5.921e-3 129 syndromic X-linked intellectual disability Siderius type X-linked intellectual disability 1 1 PHF8 (3) 0.01333 1.00000 4.806e-3 5.921e-3 129 syndromic X-linked intellectual disability Snyder type X-linked intellectual disability 1 1 SMS (2) 0.01333 1.00000 4.806e-3 5.921e-3 Female restricted epilepsy with intellectual disability X-linked intellectual disability 1 0 PCDH19 (1) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy Goldmann-favre syndrome 1 1 NR2E3 (3) 0.01333 1.00000 4.806e-3 5.921e-3 Esophageal neoplasms Ziegler-huang syndrome 1 1 SLC30A7 (2) 0.01333 1.00000 4.806e-3 5.921e-3 Creatine transporter deficiency X-linked intellectual disability 1 1 SLC6A8 (3) 0.01333 1.00000 4.806e-3 5.921e-3 CERKL-related retinopathy Cone-rod dystrophy 1 1 CERKL (2) 0.01333 1.00000 4.806e-3 5.921e-3 7 CNGA1-related retinopathy Cone-rod dystrophy 1 1 CNGA1 (2) 0.01333 1.00000 4.806e-3 5.921e-3 7 CNGA3-related retinopathy Cone-rod dystrophy 1 1 CNGA3 (4) 0.01333 1.00000 4.806e-3 5.921e-3 colorectal cancer, hereditary nonpolyposis, type 7 Esophageal neoplasms 1 1 MLH3 (2) 0.01333 1.00000 4.806e-3 5.921e-3 cone dystrophy 3 Cone-rod dystrophy 1 1 GUCA1A (5) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy cone-rod dystrophy 20 1 1 POC1B (7) 0.01333 1.00000 4.806e-3 5.921e-3 Aarskog-scott syndrome, x-linked X-linked intellectual disability 1 1 FGD1 (3) 0.01333 1.00000 4.806e-3 5.921e-3 Acyl-coa binding domain containing protein 5 deficiency Cone-rod dystrophy 1 1 ACBD5 (2) 0.01333 1.00000 4.806e-3 5.921e-3 ADAM9-related retinopathy Cone-rod dystrophy 1 1 ADAM9 (6) 0.01333 1.00000 4.806e-3 5.921e-3 CACNA2D4-related retinopathy Cone-rod dystrophy 1 1 CACNA2D4 (4) 0.01333 1.00000 4.806e-3 5.921e-3 Early-onset parkinsonism-intellectual disability syndrome X-linked intellectual disability 1 1 RAB39B (5) 0.01333 1.00000 4.806e-3 5.921e-3 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Esophageal neoplasms 1 1 UCHL1 (4) 0.01333 1.00000 4.806e-3 5.921e-3 Cone-rod dystrophy enhanced s-cone syndrome 1 1 NR2E3 (2) 0.01333 1.00000 4.806e-3 5.921e-3 ATP6AP2-related disorder X-linked intellectual disability 1 1 ATP6AP2 (2) 0.01333 1.00000 4.806e-3 5.921e-3 Axial spondylometaphyseal dysplasia Cone-rod dystrophy 1 1 CFAP410 (4) 0.01333 1.00000 4.806e-3 5.921e-3 Congenital factor x deficiency Psoriatic arthritis 1 1 F10 (4) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis Congenital small-platelet thrombocytopenia 1 1 FYB1 (3) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis Cervicitis 1 1 IL32 (2) 0.01351 1.00000 4.741e-3 5.862e-3 Carnitine deficiency Psoriatic arthritis 1 1 SLC22A5 (3) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis immunodeficiency 19 1 1 CD3D (3) 0.01351 1.00000 4.741e-3 5.862e-3 Intellectual developmental disorder language neurodegenerative Psoriatic arthritis 1 1 NR4A2 (5) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis systemic lupus erythematosus 17 1 1 TLR7 (3) 0.01351 1.00000 4.741e-3 5.862e-3 46 Psoriatic arthritis Systemic primary carnitine deficiency 1 1 SLC22A5 (4) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis thrombocytopenia 3 1 1 FYB1 (3) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis Papillon-lefevre syndrome 1 1 CTSC (6) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis pediatric systemic lupus erythematosus 1 1 SAT1 (3) 0.01351 1.00000 4.741e-3 5.862e-3 Factor x deficiency Psoriatic arthritis 1 1 F10 (4) 0.01351 1.00000 4.741e-3 5.862e-3 Allergic contact dermatitis Familial partial lipodystrophy 1 1 CIDEC (5) 0.01351 1.00000 4.741e-3 5.862e-3 Gestational trophoblastic disease Psoriatic arthritis 1 1 POU5F1 (2) 0.01351 1.00000 4.741e-3 5.862e-3 Pernicious anemia Splenic disease 1 0 CNTN5 (1) 0.05882 0.12500 4.667e-3 5.786e-3 Male infertility large polyploid spermatozoa Spermatogenic failure, x-linked 1 1 CFAP47 (6) 0.05882 0.12500 4.667e-3 5.786e-3 11 Body mass index Venous insufficiency 1 1 FTO (3) 0.05882 0.12500 4.667e-3 5.786e-3 autosomal dominant nonsyndromic hearing loss Machado-joseph disease 1 1 ATP11A (2) 0.05882 0.12500 4.667e-3 5.786e-3 Complex regional pain syndrome Nocturnal frontal lobe epilepsy 1 1 SPAG1 (2) 0.05882 0.12500 4.667e-3 5.786e-3 complex neurodevelopmental disorder with motor features Specific learning disability 1 1 KMT2B (2) 0.05556 0.16667 4.668e-3 5.786e-3 Bone remodeling disease Parenchymal hematoma 1 0 PDZRN4 (1) 0.05556 0.16667 4.668e-3 5.786e-3 Anal polyp Hydronephrosis 1 1 PTGES (3) 0.05556 0.16667 4.668e-3 5.786e-3 Lennox-gastaut syndrome Synovial disorder 1 1 GABRB3 (3) 0.05556 0.16667 4.668e-3 5.786e-3 Thyrotoxic periodic paralysis Trigeminal nerve disease 1 0 DCHS2 (1) 0.05556 0.16667 4.668e-3 5.786e-3 Hereditary atrial fibrillation Throat disease 1 1 GATA5 (2) 0.03704 0.33333 4.669e-3 5.786e-3 Intellectual developmental disorder dysmorphic facial Uranostaphyloschisis 1 1 SETD5 (3) 0.03704 0.33333 4.669e-3 5.786e-3 Autoimmune thrombocytopenic purpura Juvenile parkinsonism 1 1 DNAJC6 (3) 0.03704 0.33333 4.669e-3 5.786e-3 Hemorrhage Juvenile parkinsonism 1 1 PODXL (4) 0.03704 0.33333 4.669e-3 5.786e-3 Autoimmune thrombocytopenic purpura Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 1 1 DNAJC6 (2) 0.03704 0.33333 4.669e-3 5.786e-3 Benign adult familial myoclonic epilepsy Myoclonic epilepsy 1 1 SAMD12 (2) 0.03704 0.33333 4.669e-3 5.786e-3 284 Encephalitis Peroxisome biogenesis disorder 1 0 ABCD1 (1) 0.03704 0.33333 4.669e-3 5.786e-3 Developmental delay with or without intellectual or behavioral abnormalities syndromic intellectual disability 1 1 TAOK1 (4) 0.02632 0.50000 4.671e-3 5.786e-3 Dubowitz syndrome syndromic intellectual disability 1 1 NSUN2 (3) 0.02632 0.50000 4.671e-3 5.786e-3 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Duplication 15q11-q13 syndrome 1 0 AUTS2 (1) 0.02632 0.50000 4.671e-3 5.786e-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 5.786e-3 17q24.2 microdeletion syndrome syndromic intellectual disability 1 1 BPTF (3) 0.02632 0.50000 4.671e-3 5.786e-3 Anosmia Moyamoya angiopathy 1 1 TENM1 (2) 0.02632 0.50000 4.671e-3 5.786e-3 Cystic leukoencephalopathy Smooth surface dental caries 1 1 RNASET2 (4) 0.02632 0.50000 4.671e-3 5.786e-3 Cone rod dystrophy and hearing loss Moyamoya angiopathy 1 1 CEP78 (5) 0.02632 0.50000 4.671e-3 5.786e-3 Congenital anosmia Moyamoya angiopathy 1 0 TENM1 (1) 0.02632 0.50000 4.671e-3 5.786e-3 Cerebral folate deficiency Ocular hypotension 1 0 CIC (1) 0.02632 0.50000 4.671e-3 5.786e-3 Charcot-Marie-Tooth disease type 2 Distal hereditary motor neuropathy 1 1 NEFL (2) 0.02632 0.50000 4.671e-3 5.786e-3 13 Intellectual developmental disorder dysmorphic microcephaly syndromic intellectual disability 1 1 CTCF (3) 0.02632 0.50000 4.671e-3 5.786e-3 Proliferative diabetic retinopathy Temple syndrome 1 1 DLK1 (3) 0.02632 0.50000 4.671e-3 5.786e-3 Distal hereditary motor neuropathy Testis atrophy 1 1 PLEKHG5 (3) 0.02632 0.50000 4.671e-3 5.786e-3 Microphthalmia with retinitis pigmentosa and ocular anomalies Microphthalmos 1 1 MFRP (2) 0.02632 0.50000 4.671e-3 5.786e-3 52 Peho syndrome syndromic intellectual disability 1 1 KIF1A (3) 0.02632 0.50000 4.671e-3 5.786e-3 Distal hereditary motor neuropathy Primary coenzyme q10 deficiency 1 1 COQ7 (5) 0.02632 0.50000 4.671e-3 5.786e-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 5.786e-3 Microphthalmos Oculoauricular syndrome 1 1 HMX1 (7) 0.02632 0.50000 4.671e-3 5.786e-3 Oculopharyngeal muscular dystrophy T-cell leukemia-lymphoma 1 1 HNRNPA2B1 (5) 0.02632 0.50000 4.671e-3 5.786e-3 Distal hereditary motor neuropathy Odontochondrodysplasia 2 with hearing loss and diabetes 1 1 PLEKHG5 (5) 0.02632 0.50000 4.671e-3 5.786e-3 Barrett esophagus occult macular dystrophy 1 1 RP1L1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Trismus-pseudocamptodactyly syndrome 1 1 MYH8 (3) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis TTC8-related ciliopathy 1 1 TTC8 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis TUBB4B-related ciliopathy 1 1 TUBB4B (5) 0.01370 1.00000 4.676e-3 5.786e-3 7 Barrett esophagus Ulnar-fibular ray defect and brachydactyly 1 1 RP1L1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Vexas syndrome 1 1 UBA1 (5) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Wieacker syndrome 1 1 ZC4H2 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Wieacker-wolff syndrome 1 1 ZC4H2 (6) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis X-linked retinitis pigmentosa 1 0 RP2 (1) 0.01370 1.00000 4.676e-3 5.786e-3 IMPDH1-related retinopathy Leber congenital amaurosis 1 1 IMPDH1 (7) 0.01370 1.00000 4.676e-3 5.786e-3 GRM6-related retinopathy Leber congenital amaurosis 1 1 GRM6 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Hecht syndrome 1 1 MYH8 (3) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Hypo-akinesia disorder of prenatal onset 1 1 CHRNG (3) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis RD3-related retinopathy 1 1 RD3 (7) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis retinitis pigmentosa 65 1 1 CDHR1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 7 Leber congenital amaurosis RP1-related dominant retinopathy 1 1 RP1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis RP1-related recessive retinopathy 1 1 RP1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis RP2-related retinopathy 1 1 RP2 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Schindler disease 1 1 NAGA (3) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis snowflake vitreoretinal degeneration 1 1 KCNJ13 (7) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 1 1 PCYT1A (4) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita succinic semialdehyde dehydrogenase deficiency 1 1 ALDH5A1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis PDE6A-related retinopathy 1 1 PDE6A (2) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis PRPF31-related retinopathy 1 1 PRPF31 (2) 0.01370 1.00000 4.676e-3 5.786e-3 7 LCA5-related retinopathy Leber congenital amaurosis 1 1 LCA5 (8) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis leber congenital amaurosis 15 1 1 TULP1 (6) 0.01370 1.00000 4.676e-3 5.786e-3 7 Barrett esophagus lichtenstein-knorr syndrome 1 1 SLC9A1 (3) 0.01370 1.00000 4.676e-3 5.786e-3 Leber congenital amaurosis microcornea-myopic chorioretinal atrophy 1 1 ADAMTS18 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Miles-carpenter syndrome 1 1 ZC4H2 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Eating disorder Mucosulfatidosis 1 1 SUMF1 (3) 0.01370 1.00000 4.676e-3 5.786e-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 5.786e-3 7 Goldmann-favre syndrome Leber congenital amaurosis 1 1 NR2E3 (3) 0.01370 1.00000 4.676e-3 5.786e-3 Barrett esophagus Cerebellar ataxia with hearing loss 1 1 SLC9A1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Charcot-Marie-Tooth disease, axonal, type 2FF Eating disorder 1 1 CADM3 (2) 0.01370 1.00000 4.676e-3 5.786e-3 75 enhanced s-cone syndrome Leber congenital amaurosis 1 1 NR2E3 (2) 0.01370 1.00000 4.676e-3 5.786e-3 AIPL1-related retinopathy Leber congenital amaurosis 1 1 AIPL1 (7) 0.01370 1.00000 4.676e-3 5.786e-3 Alpha-n-acetylgalactosaminidase deficiency Arthrogryposis multiplex congenita 1 1 NAGA (4) 0.01370 1.00000 4.676e-3 5.786e-3 cone-rod dystrophy 2 Leber congenital amaurosis 1 1 CRX (7) 0.01370 1.00000 4.676e-3 5.786e-3 7 Congenital external auditory canal atresia Eating disorder 1 1 TSHZ1 (2) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Congenital finger flexion contractures 1 0 TNNI2 (1) 0.01370 1.00000 4.676e-3 5.786e-3 Arthrogryposis multiplex congenita Arthrogryposis with neurodevelopmental impairment and seizures 1 1 SLC35A3 (3) 0.01370 1.00000 4.676e-3 5.786e-3 Axial spondylometaphyseal dysplasia Leber congenital amaurosis 1 1 CFAP410 (3) 0.01370 1.00000 4.676e-3 5.786e-3 Autoinflammatory syndrome, familial, behcet-like Sjogren syndrome 1 1 TNFAIP3 (5) 0.01389 1.00000 4.611e-3 5.733e-3 22 autosomal recessive osteopetrosis 3 Sjogren syndrome 1 1 CA2 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Axial spondylometaphyseal dysplasia Ciliopathy 1 1 CFAP410 (3) 0.01389 1.00000 4.611e-3 5.733e-3 Barber-say syndrome Sjogren syndrome 1 1 TWIST2 (7) 0.01389 1.00000 4.611e-3 5.733e-3 BBS1-related ciliopathy Ciliopathy 1 1 BBS1 (2) 0.01389 1.00000 4.611e-3 5.733e-3 8 BBS12-related ciliopathy Ciliopathy 1 1 BBS12 (2) 0.01389 1.00000 4.611e-3 5.733e-3 8 BBS2-related ciliopathy Ciliopathy 1 1 BBS2 (2) 0.01389 1.00000 4.611e-3 5.733e-3 8 BBS4-related ciliopathy Ciliopathy 1 1 BBS4 (2) 0.01389 1.00000 4.611e-3 5.733e-3 8 BBS7-related ciliopathy Ciliopathy 1 1 BBS7 (2) 0.01389 1.00000 4.611e-3 5.733e-3 8 Developmental delay with intellectual disability and obesity Sjogren syndrome 1 1 PHIP (4) 0.01389 1.00000 4.611e-3 5.733e-3 Corneal astigmatism Diaphanospondylodysostosis 1 1 BMPER (6) 0.01389 1.00000 4.611e-3 5.733e-3 16 Congenital posterior urethral valves Corneal astigmatism 1 1 BNC2 (2) 0.01389 1.00000 4.611e-3 5.733e-3 16 Corneal astigmatism Deeah syndrome 1 1 MADD (4) 0.01389 1.00000 4.611e-3 5.733e-3 16 CEP164-related ciliopathy Ciliopathy 1 1 CEP164 (2) 0.01389 1.00000 4.611e-3 5.733e-3 8 Charcot-Marie-Tooth disease axonal type 2CC Motor neuron disease 1 1 NEFH (2) 0.01389 1.00000 4.611e-3 5.733e-3 Chung-jansen syndrome Sjogren syndrome 1 1 PHIP (4) 0.01389 1.00000 4.611e-3 5.733e-3 Ciliopathy cone-rod dystrophy 20 1 1 POC1B (3) 0.01389 1.00000 4.611e-3 5.733e-3 Ciliopathy Congenital cerebral hernia 1 1 PIBF1 (3) 0.01389 1.00000 4.611e-3 5.733e-3 8 Congenital ectodermal dysplasia of face Sjogren syndrome 1 1 TWIST2 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Ablepharon macrostomia syndrome Sjogren syndrome 1 1 TWIST2 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Abri amyloidosis Cerebral amyloid angiopathy 1 1 ITM2B (3) 0.01389 1.00000 4.611e-3 5.733e-3 Acys amyloidosis Cerebral amyloid angiopathy 1 1 CST3 (4) 0.01389 1.00000 4.611e-3 5.733e-3 Acys amyloidosis Motor neuron disease 1 1 CST3 (3) 0.01389 1.00000 4.611e-3 5.733e-3 ALS2-related motor neuron disease Motor neuron disease 1 1 ALS2 (3) 0.01389 1.00000 4.611e-3 5.733e-3 amyotrophic lateral sclerosis type 12 Motor neuron disease 1 1 OPTN (2) 0.01389 1.00000 4.611e-3 5.733e-3 Cerebral amyloid angiopathy Familial danish dementia 1 1 ITM2B (3) 0.01389 1.00000 4.611e-3 5.733e-3 glaucoma, normal tension, susceptibility to Motor neuron disease 1 1 OPTN (2) 0.01389 1.00000 4.611e-3 5.733e-3 Ciliopathy Heart defect, tongue hamartoma and polysyndactyly 1 1 WDPCP (6) 0.01389 1.00000 4.611e-3 5.733e-3 8 Corneal astigmatism hermansky-pudlak syndrome 7 1 1 DTNBP1 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Motor neuron disease T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 1 JAK3 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Corneal astigmatism temtamy preaxial brachydactyly syndrome 1 1 CHSY1 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Cerebral amyloid angiopathy Uridine-cytidineuria 1 1 SLC28A1 (3) 0.01389 1.00000 4.611e-3 5.733e-3 Ciliopathy Yuksel-vogel-bauer syndrome 1 1 DLG5 (3) 0.01389 1.00000 4.611e-3 5.733e-3 Corneal astigmatism neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 1 1 TNR (2) 0.01389 1.00000 4.611e-3 5.733e-3 16 Cerebral amyloid angiopathy immunodeficiency 122 1 1 POLD3 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Cerebral amyloid angiopathy immunodeficiency 53 1 1 RELB (2) 0.01389 1.00000 4.611e-3 5.733e-3 Cerebral amyloid angiopathy leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy 1 1 CST3 (3) 0.01389 1.00000 4.611e-3 5.733e-3 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy Motor neuron disease 1 1 CST3 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Ciliopathy LZTFL1-related ciliopathy 1 1 LZTFL1 (2) 0.01389 1.00000 4.611e-3 5.733e-3 8 Ciliopathy microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 1 KIF11 (3) 0.01389 1.00000 4.611e-3 5.733e-3 Corneal astigmatism renal dysplasia, cystic, susceptibility to 1 1 BICC1 (2) 0.01389 1.00000 4.611e-3 5.733e-3 Ciliopathy Retinitis pigmentosa with or without situs inversus 1 1 ARL2BP (5) 0.01389 1.00000 4.611e-3 5.733e-3 8 Motor neuron disease severe combined immunodeficiency due to LAT deficiency 1 1 LAT (2) 0.01389 1.00000 4.611e-3 5.733e-3 Ciliopathy short-rib thoracic dysplasia 19 with or without polydactyly 1 1 IFT81 (3) 0.01389 1.00000 4.611e-3 5.733e-3 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Sjogren syndrome 1 1 PHIP (4) 0.01389 1.00000 4.611e-3 5.733e-3 Omenn syndrome Proteasome associated autoinflammatory syndrome 1 1 PSMB10 (5) 0.05882 0.14286 4.538e-3 5.667e-3 Dwarfism Thyroid dyshormonogenesis 1 1 TG (5) 0.05882 0.14286 4.538e-3 5.667e-3 Congenital epicanthus Malocclusion 1 0 PTK2 (1) 0.05263 0.20000 4.538e-3 5.667e-3 Diabetic foot Intestinal disease 1 0 MAPK14 (1) 0.05263 0.20000 4.538e-3 5.667e-3 autosomal recessive limb-girdle muscular dystrophy Dowling degos disease 1 1 POGLUT1 (7) 0.05263 0.20000 4.538e-3 5.667e-3 17p11.2 microduplication syndrome Growth disorder 1 1 RAI1 (3) 0.02703 0.50000 4.541e-3 5.667e-3 Arginine vasopressin resistance Growth disorder 1 1 AVPR2 (2) 0.02703 0.50000 4.541e-3 5.667e-3 Congenital stromal corneal dystrophy Esophageal adenocarcinoma 1 1 SPARCL1 (2) 0.02703 0.50000 4.541e-3 5.667e-3 De sanctis-cacchione syndrome Growth disorder 1 1 ERCC6 (4) 0.02703 0.50000 4.541e-3 5.667e-3 Growth disorder Potocki-lupski syndrome 1 1 RAI1 (3) 0.02703 0.50000 4.541e-3 5.667e-3 Growth disorder Thyroid hormone metabolism disorder 1 1 SECISBP2 (4) 0.02703 0.50000 4.541e-3 5.667e-3 Brain ischemia thrombocytopenia 4 1 1 CYCS (3) 0.01408 1.00000 4.546e-3 5.667e-3 Status epilepticus thrombocytopenia 6 1 1 SRC (3) 0.01408 1.00000 4.546e-3 5.667e-3 Congenital heart defects White-kernohan syndrome 1 1 DDB1 (4) 0.01408 1.00000 4.546e-3 5.667e-3 41 Status epilepticus Wolcott-rallison syndrome 1 1 EIF2AK3 (4) 0.01408 1.00000 4.546e-3 5.667e-3 Congenital heart defects MKKS-related ciliopathy 1 1 MKKS (2) 0.01408 1.00000 4.546e-3 5.667e-3 mucopolysaccharidosis type 3B Spastic ataxia 1 1 NAGLU (2) 0.01408 1.00000 4.546e-3 5.667e-3 Congenital heart defects H syndrome 1 1 SLC29A3 (2) 0.01408 1.00000 4.546e-3 5.667e-3 Congenital heart defects HAND2 related congenital heart defect 1 1 HAND2 (3) 0.01408 1.00000 4.546e-3 5.667e-3 hereditary spastic paraplegia 11 Spastic ataxia 1 1 SPG11 (2) 0.01408 1.00000 4.546e-3 5.667e-3 hereditary spastic paraplegia 35 Spastic ataxia 1 1 FA2H (2) 0.01408 1.00000 4.546e-3 5.667e-3 hypomyelinating leukodystrophy 2 Spastic ataxia 1 1 GJC2 (2) 0.01408 1.00000 4.546e-3 5.667e-3 Congenital heart defects Gestational trophoblastic disease 1 0 POU5F1 (1) 0.01408 1.00000 4.546e-3 5.667e-3 Multiple epiphyseal dysplasia with early-onset diabetes mellitus Status epilepticus 1 1 EIF2AK3 (3) 0.01408 1.00000 4.546e-3 5.667e-3 neurodegeneration with brain iron accumulation 4 Spastic ataxia 1 1 C19orf12 (2) 0.01408 1.00000 4.546e-3 5.667e-3 neurodevelopmental disorder with language impairment and behavioral abnormalities Status epilepticus 1 1 GRIA2 (3) 0.01408 1.00000 4.546e-3 5.667e-3 Oxysterol accumulation disorder Spastic ataxia 1 1 CYP7B1 (2) 0.01408 1.00000 4.546e-3 5.667e-3 pyridoxal phosphate-responsive seizures Status epilepticus 1 1 PNPO (3) 0.01408 1.00000 4.546e-3 5.667e-3 Pyridoxamine 5'-phosphate oxidase deficiency Status epilepticus 1 1 PNPO (3) 0.01408 1.00000 4.546e-3 5.667e-3 Hypersensitivity immunodeficiency 63 with lymphoproliferation and autoimmunity 1 1 IL2RB (2) 0.01408 1.00000 4.546e-3 5.667e-3 Brain ischemia inflammatory bowel disease 25 1 1 IL10RB (3) 0.01408 1.00000 4.546e-3 5.667e-3 Congenital heart defects Intellectual developmental disorder hypotonia behavioral 1 1 CDK8 (4) 0.01408 1.00000 4.546e-3 5.667e-3 Intellectual developmental disorder hypotonia spastic sleep Status epilepticus 1 1 ANK3 (4) 0.01408 1.00000 4.546e-3 5.667e-3 Spastic ataxia Spastic ataxia of charlevoix-saguenay 1 1 SACS (4) 0.01408 1.00000 4.546e-3 5.667e-3 Spastic ataxia Spastic ataxia optic atrophy dysarthria syndrome 1 1 MTPAP (6) 0.01408 1.00000 4.546e-3 5.667e-3 92 Spastic ataxia Spastic ataxia with leukoencephalopathy 1 1 MARS2 (4) 0.01408 1.00000 4.546e-3 5.667e-3 Spastic ataxia spinocerebellar ataxia type 42 1 1 CACNA1G (2) 0.01408 1.00000 4.546e-3 5.667e-3 92 Danon disease Status epilepticus 1 1 LAMP2 (6) 0.01408 1.00000 4.546e-3 5.667e-3 Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect Spastic ataxia 1 1 SACS (3) 0.01408 1.00000 4.546e-3 5.667e-3 Athabaskan brainstem dysgenesis Congenital heart defects 1 1 HOXA1 (4) 0.01408 1.00000 4.546e-3 5.667e-3 Developmental delay with overweight and facial dysmorphism Status epilepticus 1 1 SRRM2 (2) 0.01408 1.00000 4.546e-3 5.667e-3 63 Dubin-johnson syndrome Status epilepticus 1 1 ABCC2 (6) 0.01408 1.00000 4.546e-3 5.667e-3 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Spastic ataxia 1 1 AFG3L2 (6) 0.01408 1.00000 4.546e-3 5.667e-3 Acrokeratosis verruciformis Status epilepticus 1 1 ATP2A2 (3) 0.01408 1.00000 4.546e-3 5.667e-3 AFG3L2-related optic atrophy and/or spastic ataxia spectrum Spastic ataxia 1 1 AFG3L2 (6) 0.01408 1.00000 4.546e-3 5.667e-3 Alpha-methylacyl-coa racemase deficiency Spastic ataxia 1 1 AMACR (3) 0.01408 1.00000 4.546e-3 5.667e-3 Common atrium Congenital heart defects 1 0 CDK8 (1) 0.01408 1.00000 4.546e-3 5.667e-3 Congenital heart defect, intellectual disability, facial dysmorphism syndrome Congenital heart defects 1 0 CDK13 (1) 0.01408 1.00000 4.546e-3 5.667e-3 Cerebellar-facial-dental syndrome Congenital heart defects 1 1 BRF1 (5) 0.01408 1.00000 4.546e-3 5.667e-3 Chondromyxoid fibroma Status epilepticus 1 1 GRM1 (3) 0.01408 1.00000 4.546e-3 5.667e-3 Bosley-salih-alorainy syndrome Congenital heart defects 1 1 HOXA1 (3) 0.01408 1.00000 4.546e-3 5.667e-3 Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome Status epilepticus 1 1 MEF2C (3) 0.01408 1.00000 4.546e-3 5.667e-3 Body skin hyperlaxity Urolithiasis 1 1 GGCX (5) 0.01429 1.00000 4.481e-3 5.604e-3 cardiomyopathy, dilated, 2g Non-organic psychosis 1 1 LMOD2 (2) 0.01429 1.00000 4.481e-3 5.604e-3 Cirrhosis dystonia polycythemia hypermanganesemia syndrome Urolithiasis 1 1 SLC30A10 (2) 0.01429 1.00000 4.481e-3 5.604e-3 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Urolithiasis 1 1 SLC30A10 (2) 0.01429 1.00000 4.481e-3 5.604e-3 2,8-dihydroxyadenine urolithiasis Urolithiasis 1 1 APRT (2) 0.01429 1.00000 4.481e-3 5.604e-3 3-hydroxyisobutyric aciduria Urolithiasis 1 1 HIBADH (3) 0.01429 1.00000 4.481e-3 5.604e-3 180 Adenine phosphoribosyltransferase deficiency Urolithiasis 1 1 APRT (3) 0.01429 1.00000 4.481e-3 5.604e-3 Anterior maxillary protrusion-strabismus-intellectual disability syndrome Non-organic psychosis 1 1 SOBP (2) 0.01429 1.00000 4.481e-3 5.604e-3 Cohen syndrome Urolithiasis 1 1 VPS13B (8) 0.01429 1.00000 4.481e-3 5.604e-3 microcephalic osteodysplastic primordial dwarfism type II Non-organic psychosis 1 1 PCNT (2) 0.01429 1.00000 4.481e-3 5.604e-3 Hypertryptophanemia Non-organic psychosis 1 1 TDO2 (6) 0.01429 1.00000 4.481e-3 5.604e-3 inherited pseudoxanthoma elasticum Urolithiasis 1 1 ABCC6 (2) 0.01429 1.00000 4.481e-3 5.604e-3 Intellectual developmental disorder hypotonia spastic sleep Non-organic psychosis 1 1 ANK3 (3) 0.01429 1.00000 4.481e-3 5.604e-3 Intellectual disability, anterior maxillary protrusion, and strabismus Non-organic psychosis 1 1 SOBP (2) 0.01429 1.00000 4.481e-3 5.604e-3 Non-organic psychosis pediatric systemic lupus erythematosus 1 1 SAT1 (2) 0.01429 1.00000 4.481e-3 5.604e-3 Congenital impairment of spermatozoa motility Synovial sarcoma 1 1 SSX1 (2) 0.03846 0.33333 4.475e-3 5.601e-3 11 Bronchiectasis Obstructive azoospermia 1 1 CFTR (4) 0.04762 0.25000 4.409e-3 5.528e-3 Anauxetic dysplasia Prion disease 1 1 POP1 (6) 0.04762 0.25000 4.409e-3 5.528e-3 Congenital chronic diarrhea with protein-losing enteropathy Triple negative breast cancer 1 1 PLVAP (3) 0.02778 0.50000 4.411e-3 5.528e-3 Panic disorder Periventricular leukomalacia 1 1 PLEKHG1 (2) 0.02778 0.50000 4.411e-3 5.528e-3 Growth hormone deficiency Uinary system neoplasms 1 1 WDR11 (2) 0.02778 0.50000 4.411e-3 5.528e-3 Sepsis Whim syndrome 1 1 CXCR2 (5) 0.02778 0.50000 4.411e-3 5.528e-3 Sepsis X-linked lymphoproliferative syndrome 1 1 XIAP (5) 0.02778 0.50000 4.411e-3 5.528e-3 Hepatic veno occlusive disease with immunodeficiency Lymphocytic b-cell leukemia 1 1 SP140 (2) 0.02778 0.50000 4.411e-3 5.528e-3 Combined oxidative phosphorylation deficiency Hepatoencephalopathy due to combined oxidative phosphorylation defect 1 1 GFM1 (6) 0.01449 1.00000 4.416e-3 5.528e-3 Bone fracture Parkinsonism with polyneuropathy 1 1 UQCRC1 (4) 0.01449 1.00000 4.416e-3 5.528e-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 5.528e-3 62 Combined oxidative phosphorylation deficiency nephrotic syndrome, type 21 1 1 AVIL (2) 0.01449 1.00000 4.416e-3 5.528e-3 Combined oxidative phosphorylation deficiency neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 1 1 VARS1 (3) 0.01449 1.00000 4.416e-3 5.528e-3 Dermatologic disorder optic atrophy 13 with retinal and foveal abnormalities 1 1 SSBP1 (2) 0.01449 1.00000 4.416e-3 5.528e-3 16 Folic acid deficiency Nervous system disease 1 1 DHFR (2) 0.01449 1.00000 4.416e-3 5.528e-3 mucopolysaccharidosis type 7 Nervous system disease 1 1 GUSB (3) 0.01449 1.00000 4.416e-3 5.528e-3 Bone fracture Mucosulfatidosis 1 1 SUMF1 (3) 0.01449 1.00000 4.416e-3 5.528e-3 Bone fracture temtamy preaxial brachydactyly syndrome 1 1 CHSY1 (2) 0.01449 1.00000 4.416e-3 5.528e-3 303 Bone fracture Tolchin-le caignec syndrome 1 1 SOX6 (4) 0.01449 1.00000 4.416e-3 5.528e-3 Nervous system disease Vitamin e deficiency 1 1 TTPA (4) 0.01449 1.00000 4.416e-3 5.528e-3 Dermatologic disorder Intellectual developmental disorder language neurodegenerative 1 1 NR4A2 (4) 0.01449 1.00000 4.416e-3 5.528e-3 Combined oxidative phosphorylation deficiency Spastic ataxia with leukoencephalopathy 1 1 MARS2 (6) 0.01449 1.00000 4.416e-3 5.528e-3 Dubin-johnson syndrome Nervous system disease 1 1 ABCC2 (6) 0.01449 1.00000 4.416e-3 5.528e-3 Bone fracture Craniometadiaphyseal osteosclerosis with hip dysplasia 1 1 AXIN1 (4) 0.01449 1.00000 4.416e-3 5.528e-3 Albinism Bone fracture 1 1 TPCN2 (2) 0.01449 1.00000 4.416e-3 5.528e-3 Bone fracture Caudal duplication anomaly 1 1 AXIN1 (6) 0.01449 1.00000 4.416e-3 5.528e-3 Childhood-onset sensorineural hearing impairment Combined oxidative phosphorylation deficiency 1 1 PRORP (4) 0.01449 1.00000 4.416e-3 5.528e-3 Chondrodysplasia-difference of sex development syndrome Nervous system disease 1 1 HHAT (2) 0.01449 1.00000 4.416e-3 5.528e-3 Chondrodysplasia-pseudohypohermaphroditism syndrome Nervous system disease 1 1 HHAT (2) 0.01449 1.00000 4.416e-3 5.528e-3 Chromosome 17p13.3 microdeletion syndrome Hirschsprung disease 1 1 YWHAE (2) 0.01471 1.00000 4.351e-3 5.456e-3 CNGA3-related retinopathy Macular degeneration 1 1 CNGA3 (2) 0.01471 1.00000 4.351e-3 5.456e-3 dilated cardiomyopathy 1W Hirschsprung disease 1 1 VCL (2) 0.01471 1.00000 4.351e-3 5.456e-3 Cohen syndrome Meniere disease 1 1 VPS13B (8) 0.01471 1.00000 4.351e-3 5.456e-3 combined immunodeficiency due to LRBA deficiency Meniere disease 1 1 LRBA (2) 0.01471 1.00000 4.351e-3 5.456e-3 Atrial tachyarrhythmia, infra-hisian cardiac conduction disease Meniere disease 1 0 TNNI3K (1) 0.01471 1.00000 4.351e-3 5.456e-3 Autoinflammation with arthritis and dyskeratosis Hypotension 1 1 NLRP1 (5) 0.01471 1.00000 4.351e-3 5.456e-3 BBS10-related ciliopathy Macular degeneration 1 1 BBS10 (2) 0.01471 1.00000 4.351e-3 5.456e-3 Bothnia retinal dystrophy Macular degeneration 1 1 RLBP1 (6) 0.01471 1.00000 4.351e-3 5.456e-3 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Hypotension 1 1 NLRP1 (4) 0.01471 1.00000 4.351e-3 5.456e-3 Macular degeneration RLBP1-related retinopathy 1 1 RLBP1 (3) 0.01471 1.00000 4.351e-3 5.456e-3 Macular degeneration Schmid metaphyseal chondrodysplasia 1 1 COL10A1 (2) 0.01471 1.00000 4.351e-3 5.456e-3 Hirschsprung disease schuurs-hoeijmakers syndrome 1 1 PACS1 (2) 0.01471 1.00000 4.351e-3 5.456e-3 Meniere disease Short stature spectrum 1 1 ACAN (3) 0.01471 1.00000 4.351e-3 5.456e-3 Macular degeneration sorsby fundus dystrophy 1 1 TIMP3 (3) 0.01471 1.00000 4.351e-3 5.456e-3 glycogen storage disease III Meniere disease 1 1 AGL (2) 0.01471 1.00000 4.351e-3 5.456e-3 Meniere disease Peripheral neuropathy myopathy hoarseness hearing loss syndrome 1 1 MYH14 (2) 0.01471 1.00000 4.351e-3 5.456e-3 Meniere disease Peripheral neuropathy, myopathy, hoarseness, and hearing 1 1 MYH14 (4) 0.01471 1.00000 4.351e-3 5.456e-3 Hirschsprung disease oligodontia-cancer predisposition syndrome 1 1 AXIN2 (2) 0.01471 1.00000 4.351e-3 5.456e-3 macrothrombocytopenia, isolated, 1, autosomal dominant Meniere disease 1 1 TUBB1 (2) 0.01471 1.00000 4.351e-3 5.456e-3 Hirschsprung disease Mowat-wilson syndrome 1 1 ZEB2 (7) 0.01471 1.00000 4.351e-3 5.456e-3 Hirschsprung disease Mucoepithelial dysplasia 1 1 SREBF1 (4) 0.01471 1.00000 4.351e-3 5.456e-3 Hirschsprung disease TMEM165-congenital disorder of glycosylation 1 1 TMEM165 (2) 0.01471 1.00000 4.351e-3 5.456e-3 Macular degeneration TOPORS-related retinopathy 1 1 TOPORS (2) 0.01471 1.00000 4.351e-3 5.456e-3 Hirschsprung disease Urban-schosser-spohr syndrome 1 1 SREBF1 (3) 0.01471 1.00000 4.351e-3 5.456e-3 Auditory system disease Trigeminal nerve disease 1 0 DCHS2 (1) 0.05882 0.16667 4.279e-3 5.383e-3 Bladder disease Gastritis 1 0 ZNF385B (1) 0.04000 0.33333 4.280e-3 5.383e-3 Congenital muscular dystrophy Marinesco-sjogren syndrome 1 1 INPP5K (4) 0.04000 0.33333 4.280e-3 5.383e-3 Lymphatic system disease Temporal lobe epilepsy 1 1 SLC12A2 (3) 0.02857 0.50000 4.282e-3 5.383e-3 Bronchitis Male infertility acephalic spermatozoa 1 1 PMFBP1 (2) 0.02857 0.50000 4.282e-3 5.383e-3 Osteochondrodysplasias Smith-mccort dysplasia 1 1 DYM (6) 0.02857 0.50000 4.282e-3 5.383e-3 Intestinal hypomagnesemia Rod-cone dystrophy 1 1 TRPM6 (3) 0.02857 0.50000 4.282e-3 5.383e-3 Congenital cerebellar ataxia Temporal lobe epilepsy 1 1 GRM1 (3) 0.02857 0.50000 4.282e-3 5.383e-3 17q24.2 microdeletion syndrome Sarcoma 1 1 BPTF (3) 0.02857 0.50000 4.282e-3 5.383e-3 Conjunctival disease Transitional cell carcinoma 1 1 DAPK1 (2) 0.02857 0.50000 4.282e-3 5.383e-3 Brachial plexus neuritis Hereditary motor and sensory neuropathies 1 1 SEPTIN9 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Brachydactyly-short stature-retinits pigmentosa syndrome Urinary bladder cancer 1 1 CWC27 (3) 0.01493 1.00000 4.286e-3 5.383e-3 Brain calcification Interstitial lung disease 1 1 FARSB (2) 0.01493 1.00000 4.286e-3 5.383e-3 Breast/nipple aplasia or hypoplasia Left ventricular disease 1 1 PTPRF (5) 0.01493 1.00000 4.286e-3 5.383e-3 cardiomyopathy, dilated, 2e Left ventricular disease 1 1 JPH2 (2) 0.01493 1.00000 4.286e-3 5.383e-3 3 Cavitary optic disc anomalies Interstitial lung disease 1 1 MMP19 (3) 0.01493 1.00000 4.286e-3 5.383e-3 Charcot-Marie-Tooth disease axonal type 2CC Hereditary motor and sensory neuropathies 1 1 NEFH (2) 0.01493 1.00000 4.286e-3 5.383e-3 Charcot-Marie-Tooth disease axonal type 2P Hereditary motor and sensory neuropathies 1 1 LRSAM1 (2) 0.01493 1.00000 4.286e-3 5.383e-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 5.383e-3 dilated cardiomyopathy 1CC Left ventricular disease 1 1 NEXN (2) 0.01493 1.00000 4.286e-3 5.383e-3 3 dilated cardiomyopathy 1Y Left ventricular disease 1 1 TPM1 (4) 0.01493 1.00000 4.286e-3 5.383e-3 3 Alpha-methylacyl-coa racemase deficiency Hereditary motor and sensory neuropathies 1 1 AMACR (3) 0.01493 1.00000 4.286e-3 5.383e-3 Antecubital pterygium syndrome Urinary bladder cancer 1 1 PSD3 (3) 0.01493 1.00000 4.286e-3 5.383e-3 Barth syndrome Left ventricular disease 1 1 TAFAZZIN (5) 0.01493 1.00000 4.286e-3 5.383e-3 3 Atopic dermatitis combined immunodeficiency due to DOCK8 deficiency 1 1 DOCK8 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Congenital absence of breast with absent nipple Left ventricular disease 1 0 PTPRF (1) 0.01493 1.00000 4.286e-3 5.383e-3 Congenital cataract microcephaly intellectual disability syndrome Hereditary motor and sensory neuropathies 1 1 MED25 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Atopic dermatitis Ichthyosis vulgaris 1 1 FLG (4) 0.01493 1.00000 4.286e-3 5.383e-3 Interstitial lung disease interstitial lung disease 1 1 1 SFTPA1 (5) 0.01493 1.00000 4.286e-3 5.383e-3 Interstitial lung disease interstitial lung disease 2 1 1 SFTPA2 (5) 0.01493 1.00000 4.286e-3 5.383e-3 Interstitial lung disease isovaleric acidemia 1 1 IVD (2) 0.01493 1.00000 4.286e-3 5.383e-3 Interstitial lung disease Laryngo-onycho-cutaneous syndrome 1 1 LAMA3 (5) 0.01493 1.00000 4.286e-3 5.383e-3 Metaphyseal chondrodysplasia with retinitis pigmentosa Urinary bladder cancer 1 1 CWC27 (5) 0.01493 1.00000 4.286e-3 5.383e-3 Interstitial lung disease primary ciliary dyskinesia 28 1 1 SPAG1 (2) 0.01493 1.00000 4.286e-3 5.383e-3 hermansky-pudlak syndrome 4 Interstitial lung disease 1 1 HPS4 (2) 0.01493 1.00000 4.286e-3 5.383e-3 hermansky-pudlak syndrome 7 Interstitial lung disease 1 1 DTNBP1 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Atopic dermatitis hyper-ige syndrome 6, autosomal dominant, with recurrent infections 1 1 STAT6 (3) 0.01493 1.00000 4.286e-3 5.383e-3 familial isolated arrhythmogenic right ventricular dysplasia Left ventricular disease 1 1 DSC2 (2) 0.01493 1.00000 4.286e-3 5.383e-3 3 Interstitial lung disease Respiratory distress with surfactant metabolism deficiency 1 1 SFTPC (5) 0.01493 1.00000 4.286e-3 5.383e-3 Retinitis pigmentosa with or without skeletal anomalies Urinary bladder cancer 1 1 CWC27 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Interstitial lung disease SFTPC-related interstitial lung disease 1 1 SFTPC (5) 0.01493 1.00000 4.286e-3 5.383e-3 Atopic dermatitis Uric acid urolithiasis 1 1 ZNF365 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Hereditary motor and sensory neuropathies X-linked hereditary motor and sensory neuropathy 1 0 DRP2 (1) 0.01493 1.00000 4.286e-3 5.383e-3 13 Hereditary motor and sensory neuropathies Neuralgic amyotrophy 1 1 SEPTIN9 (3) 0.01493 1.00000 4.286e-3 5.383e-3 neurodegeneration with brain iron accumulation 4 Urinary bladder cancer 1 1 C19orf12 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Hereditary motor and sensory neuropathies neuropathy, hereditary sensory and autonomic, type 2A 1 1 WNK1 (2) 0.01493 1.00000 4.286e-3 5.383e-3 Left ventricular disease neutral lipid storage myopathy 1 1 PNPLA2 (2) 0.01493 1.00000 4.286e-3 5.383e-3 neurodevelopmental disorder with language impairment and behavioral abnormalities Rhinitis 1 1 GRIA2 (3) 0.01515 1.00000 4.221e-3 5.316e-3 Generalized epilepsy hermansky-pudlak syndrome 4 1 1 HPS4 (2) 0.01515 1.00000 4.221e-3 5.316e-3 Generalized epilepsy infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 1 1 GLS (2) 0.01515 1.00000 4.221e-3 5.316e-3 exostoses, multiple, type 1 Generalized epilepsy 1 1 EXT1 (2) 0.01515 1.00000 4.221e-3 5.316e-3 Generalized epilepsy Glutaminase deficiency 1 1 GLS (4) 0.01515 1.00000 4.221e-3 5.316e-3 Casgid syndrome Generalized epilepsy 1 1 GLS (2) 0.01515 1.00000 4.221e-3 5.316e-3 Axonal neuropathy Generalized epilepsy 1 0 GBF1 (1) 0.01515 1.00000 4.221e-3 5.316e-3 Byzanthine arch palate Malocclusion 1 0 PTK2 (1) 0.05556 0.20000 4.215e-3 5.310e-3 Hyperuricemia lesch-nyhan syndrome 1 1 HPRT1 (4) 0.01538 1.00000 4.156e-3 5.237e-3 Kawasaki disease Opitz g/bbb syndrome 1 1 SPECC1L (2) 0.01538 1.00000 4.156e-3 5.237e-3 Hyperuricemia Osteomalacia 1 1 MEPE (3) 0.01538 1.00000 4.156e-3 5.237e-3 180 Hyperuricemia Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1 1 HPRT1 (4) 0.01538 1.00000 4.156e-3 5.237e-3 Kawasaki disease thrombocytopenia 10 1 1 PTPRJ (2) 0.01538 1.00000 4.156e-3 5.237e-3 Kawasaki disease Vici syndrome 1 1 EPG5 (5) 0.01538 1.00000 4.156e-3 5.237e-3 Hyperuricemia renal dysplasia, cystic, susceptibility to 1 1 BICC1 (2) 0.01538 1.00000 4.156e-3 5.237e-3 Dalmatian hypouricemia Hyperuricemia 1 1 SLC22A12 (2) 0.01538 1.00000 4.156e-3 5.237e-3 180 Connective tissue neoplasm Machado-joseph disease 1 0 THSD7B (1) 0.06250 0.12500 4.150e-3 5.234e-3 Congenital chloride diarrhea Hydrops fetalis 1 1 SLC26A3 (3) 0.05000 0.25000 4.150e-3 5.234e-3 Developmental disorder Hereditary hemophagocytic lymphohistiocytosis 1 1 STX11 (2) 0.05000 0.25000 4.150e-3 5.234e-3 Hyperemesis gravidarum Thyroiditis 1 0 PPM1H (1) 0.05000 0.25000 4.150e-3 5.234e-3 Male reproductive system disease Pulmonary edema 1 0 MYRIP (1) 0.05000 0.25000 4.150e-3 5.234e-3 Congenital total cataract Trichohepatoenteric syndrome 1 0 AGK (1) 0.05000 0.25000 4.150e-3 5.234e-3 Ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia 1 1 EDA (4) 0.02941 0.50000 4.152e-3 5.234e-3 76 Esophageal atresia Rib fracture 1 1 TENM2 (2) 0.02941 0.50000 4.152e-3 5.234e-3 Gastrointestinal disease Intellectual developmental disorder autism dysmorphic 1 1 CHD8 (5) 0.02941 0.50000 4.152e-3 5.234e-3 Congenital nervous system disorder Esophageal atresia 1 1 DROSHA (2) 0.02941 0.50000 4.152e-3 5.234e-3 Childhood kidney wilms tumor Wilms tumor 1 1 TRIM28 (2) 0.02941 0.50000 4.152e-3 5.234e-3 Congenital epithelial dysplasia of intestine Hereditary breast cancer 1 1 EPCAM (2) 0.02941 0.50000 4.152e-3 5.234e-3 Breast fibrocystic disease Coronary aneurysm 1 0 CSMD1 (1) 0.02941 0.50000 4.152e-3 5.234e-3 Carbohydrate deficient glycoprotein syndrome Coronary aneurysm 1 1 MAN1B1 (2) 0.02941 0.50000 4.152e-3 5.234e-3 Carpal tunnel syndrome Copper metabolism disorder 1 1 CCS (2) 0.01563 1.00000 4.091e-3 5.162e-3 44 Bilateral congenital vertical talus Mouth neoplasms 1 1 HOXD10 (2) 0.01563 1.00000 4.091e-3 5.162e-3 Brugada syndrome dilated cardiomyopathy 1JJ 1 1 LAMA4 (2) 0.01563 1.00000 4.091e-3 5.162e-3 3 Carpal tunnel syndrome Comp-related skeletal dysplasia 1 1 COMP (5) 0.01563 1.00000 4.091e-3 5.162e-3 Brugada syndrome Chromosome 2p16.1-p15 deletion syndrome 1 1 USP34 (2) 0.01563 1.00000 4.091e-3 5.162e-3 Intellectual developmental disorder seizures movement Mouth neoplasms 1 1 PDE2A (4) 0.01563 1.00000 4.091e-3 5.162e-3 Conotruncal cardiac defect Intellectual developmental disorder short stature behavioral 1 1 IQSEC1 (5) 0.01563 1.00000 4.091e-3 5.162e-3 Mouth neoplasms Triose phosphate isomerase deficiency 1 1 TPI1 (6) 0.01563 1.00000 4.091e-3 5.162e-3 Carpal tunnel syndrome TTLL5-related retinopathy 1 1 TTLL5 (2) 0.01563 1.00000 4.091e-3 5.162e-3 Mouth neoplasms Vertical talus 1 1 HOXD10 (2) 0.01563 1.00000 4.091e-3 5.162e-3 Carpal tunnel syndrome Woolly hair-palmoplantar keratoderma syndrome 1 1 KANK2 (4) 0.01563 1.00000 4.091e-3 5.162e-3 Conotruncal cardiac defect neonatal/infantile epilepsy syndrome 1 1 KCNH5 (2) 0.01563 1.00000 4.091e-3 5.162e-3 Brugada syndrome Neurodevelopmental disorder with dilated cardiomyopathy 1 1 CAMK2D (2) 0.01563 1.00000 4.091e-3 5.162e-3 Hmg-coa synthase deficiency Mouth neoplasms 1 1 HMGCS2 (3) 0.01563 1.00000 4.091e-3 5.162e-3 Brugada syndrome hypokalemic alkalosis, familial, with specific renal tubulopathy 1 1 KCNJ16 (2) 0.01563 1.00000 4.091e-3 5.162e-3 3 Carpal tunnel syndrome Schmid metaphyseal chondrodysplasia 1 1 COL10A1 (2) 0.01563 1.00000 4.091e-3 5.162e-3 Male infertility testicular dysgenesis Postaxial polydactyly 1 0 KIF7 (1) 0.04167 0.33333 4.086e-3 5.160e-3 Brain malformations Congenital anomalies of kidney and urinary tract 1 0 SON (1) 0.04167 0.33333 4.086e-3 5.160e-3 Beta thalassemia Dias-logan syndrome 1 1 BCL11A (4) 0.04167 0.33333 4.086e-3 5.160e-3 Distal renal tubular acidosis Hypomaturation amelogenesis imperfecta 1 1 WDR72 (2) 0.06250 0.14286 4.085e-3 5.160e-3 Androgenetic alopecia Appendiceal disorder 2 0 MND1 (1), TMEM131L (1) 0.00487 0.50000 4.056e-3 5.124e-3 Aortic aneurysm aortic valve disease 3 1 1 ROBO4 (2) 0.01587 1.00000 4.026e-3 5.086e-3 Charcot-Marie-Tooth disease type 4B2 Moyamoya disease 1 1 SBF2 (2) 0.01587 1.00000 4.026e-3 5.086e-3 autosomal dominant cerebellar ataxia Moyamoya disease 1 1 NPTX1 (2) 0.01587 1.00000 4.026e-3 5.086e-3 Aortic aneurysm Bladder dysfunction 1 1 CHRNA3 (3) 0.01587 1.00000 4.026e-3 5.086e-3 Aortic aneurysm Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 1 1 ZPR1 (4) 0.01587 1.00000 4.026e-3 5.086e-3 Aortic aneurysm neonatal/infantile epilepsy syndrome 1 1 KCNH5 (2) 0.01587 1.00000 4.026e-3 5.086e-3 50 Cystic fibrosis immunodeficiency 97 with autoinflammation 1 1 PIK3CG (2) 0.01587 1.00000 4.026e-3 5.086e-3 Intestinal dysmotility syndrome Moyamoya disease 1 1 ANO1 (5) 0.01587 1.00000 4.026e-3 5.086e-3 glutaric acidemia type 3 Moyamoya disease 1 1 SUGCT (2) 0.01587 1.00000 4.026e-3 5.086e-3 Cystic fibrosis systemic lupus erythematosus, susceptibility to, 1 1 1 TLR5 (2) 0.01587 1.00000 4.026e-3 5.086e-3 Aortic aneurysm Urinary bladder dysfunction 1 1 CHRNA3 (3) 0.01587 1.00000 4.026e-3 5.086e-3 Aortic aneurysm Winchester syndrome 1 1 MMP14 (5) 0.01587 1.00000 4.026e-3 5.086e-3 microcephalic osteodysplastic primordial dwarfism type II Moyamoya disease 1 1 PCNT (3) 0.01587 1.00000 4.026e-3 5.086e-3 Cystic fibrosis POLE-related polyposis and colorectal cancer syndrome 1 1 POLE (2) 0.01587 1.00000 4.026e-3 5.086e-3 Pontocerebellar hypoplasia propionic acidemia 1 1 PCCA (2) 0.03030 0.50000 4.023e-3 5.086e-3 Ocular anomalies with axonal neuropathy and developmental delay Pontocerebellar hypoplasia 1 1 ATAD3A (5) 0.03030 0.50000 4.023e-3 5.086e-3 Distal spinal muscular atrophy Odontochondrodysplasia 2 with hearing loss and diabetes 1 1 PLEKHG5 (3) 0.03030 0.50000 4.023e-3 5.086e-3 Auditory neuropathy Intellectual disability with craniofacial anomalies and cardiac defects 1 0 H1-4 (1) 0.03030 0.50000 4.023e-3 5.086e-3 Microscopic colitis Selective iga deficiency disease 1 0 CLEC16A (1) 0.03030 0.50000 4.023e-3 5.086e-3 369 Seborrhea-like dermatitis with psoriasiform elements Seborrheic keratosis 1 1 TBCD (2) 0.03030 0.50000 4.023e-3 5.086e-3 Congenital microcephaly Skraban-deardorff syndrome 1 0 WDR62 (1) 0.03030 0.50000 4.023e-3 5.086e-3 Distal spinal muscular atrophy Testis atrophy 1 0 PLEKHG5 (1) 0.03030 0.50000 4.023e-3 5.086e-3 Pituitary stalk interruption syndrome Uinary system neoplasms 1 1 WDR11 (2) 0.03030 0.50000 4.023e-3 5.086e-3 Selective iga deficiency disease Vitreous body disease 1 0 NCKAP5 (1) 0.03030 0.50000 4.023e-3 5.086e-3 Bilateral generalized polymicrogyria Congenital microcephaly 1 1 RTTN (2) 0.03030 0.50000 4.023e-3 5.086e-3 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Hyperplasia 1 1 PRG4 (6) 0.03030 0.50000 4.023e-3 5.086e-3 Cerebral folate deficiency Neural tube defects, x-linked 1 1 FOLR1 (2) 0.03030 0.50000 4.023e-3 5.086e-3 Auditory neuropathy Charcot-Marie-Tooth disease type 2 1 1 NEFL (2) 0.03030 0.50000 4.023e-3 5.086e-3 Charcot-Marie-Tooth disease type 2 Distal spinal muscular atrophy 1 1 NEFL (2) 0.03030 0.50000 4.023e-3 5.086e-3 13 Cochlear diseases Congenital ear anomaly 1 1 PCDH15 (2) 0.03030 0.50000 4.023e-3 5.086e-3 Agenesis of corpus callosum Auditory neuropathy 1 1 CDH2 (3) 0.03030 0.50000 4.023e-3 5.086e-3 Auditory neuropathy Auditory neuropathy with optic atrophy 1 1 FDXR (5) 0.03030 0.50000 4.023e-3 5.086e-3 Bifid uvula Neural tube defects, x-linked 1 0 GRHL3 (1) 0.03030 0.50000 4.023e-3 5.086e-3 Diffuse panbronchiolitis Membranous glomerulonephritis 1 1 MUCL3 (4) 0.03030 0.50000 4.023e-3 5.086e-3 Discoid lupus erythematosus Hyperplasia 1 1 OGG1 (2) 0.03030 0.50000 4.023e-3 5.086e-3 developmental and epileptic encephalopathy, 41 Myositis 1 1 SLC1A2 (2) 0.01613 1.00000 3.962e-3 5.015e-3 22 dilated cardiomyopathy 1V Huntington disease 1 1 PSEN2 (2) 0.01613 1.00000 3.962e-3 5.015e-3 Cerebellar-facial-dental syndrome Huntington disease 1 1 BRF1 (6) 0.01613 1.00000 3.962e-3 5.015e-3 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Myositis 1 1 MYH2 (3) 0.01613 1.00000 3.962e-3 5.015e-3 Chromosome 5q12 deletion syndrome Myositis 1 1 PDE4D (2) 0.01613 1.00000 3.962e-3 5.015e-3 Borderline personality disorder Pulmonary hypertension 1 1 TPH1 (2) 0.01613 1.00000 3.962e-3 5.015e-3 Casgid syndrome Myositis 1 1 GLS (2) 0.01613 1.00000 3.962e-3 5.015e-3 Autoinflammatory syndrome, familial, behcet-like Myositis 1 1 TNFAIP3 (5) 0.01613 1.00000 3.962e-3 5.015e-3 22 autosomal systemic lupus erythematosus type 16 Myositis 1 1 DNASE1L3 (2) 0.01613 1.00000 3.962e-3 5.015e-3 22 Congenital brain dysgenesis due to glutamine synthetase deficiency Huntington disease 1 1 GLUL (5) 0.01613 1.00000 3.962e-3 5.015e-3 Acetyl-coa carboxylase deficiency Erectile dysfunction 1 1 ACACA (2) 0.01613 1.00000 3.962e-3 5.015e-3 73 Erectile dysfunction Multiple intestinal atresia 1 1 TTC7A (3) 0.01613 1.00000 3.962e-3 5.015e-3 myopathy, proximal, and ophthalmoplegia Myositis 1 1 MYH2 (2) 0.01613 1.00000 3.962e-3 5.015e-3 fibrodysplasia ossificans progressiva Myositis 1 1 ACVR1 (3) 0.01613 1.00000 3.962e-3 5.015e-3 Gastroschisis Huntington disease 1 1 ADD1 (2) 0.01613 1.00000 3.962e-3 5.015e-3 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Pulmonary hypertension 1 1 GBA1 (4) 0.01613 1.00000 3.962e-3 5.015e-3 Glutaminase deficiency Myositis 1 1 GLS (4) 0.01613 1.00000 3.962e-3 5.015e-3 Huntington disease hyper-IgE recurrent infection syndrome 5, autosomal recessive 1 1 IL6R (2) 0.01613 1.00000 3.962e-3 5.015e-3 Pulmonary hypertension pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 1 1 EIF2AK4 (3) 0.01613 1.00000 3.962e-3 5.015e-3 Myositis Separation anxiety disorder 1 1 DRD4 (2) 0.01613 1.00000 3.962e-3 5.015e-3 Myositis spinocerebellar ataxia, autosomal recessive 25 1 1 ATG5 (2) 0.01613 1.00000 3.962e-3 5.015e-3 22 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development Myositis 1 1 GLS (2) 0.01613 1.00000 3.962e-3 5.015e-3 Huntington disease Interleukin 6 quantitative trait 1 1 IL6R (3) 0.01613 1.00000 3.962e-3 5.015e-3 Huntington disease karyomegalic interstitial nephritis 1 1 FAN1 (2) 0.01613 1.00000 3.962e-3 5.015e-3 Atypical femoral fracture Nasal polyp 2 0 IL18R1 (1), SLC9A4 (1) 0.02667 0.05405 3.937e-3 4.991e-3 Color vision deficiency Ear disorder 2 0 SCML4 (1), COL26A1 (1) 0.00207 1.00000 3.932e-3 4.985e-3 2 Bile duct disorder Hypertensive heart disease 1 0 PRKAG2 (1) 0.06250 0.16667 3.891e-3 4.941e-3 Tricuspid valve disease Trigeminal nerve disease 1 0 KIF26B (1) 0.06250 0.16667 3.891e-3 4.941e-3 Angelman syndrome Synovial disorder 1 1 GABRB3 (3) 0.06250 0.16667 3.891e-3 4.941e-3 Childhood absence epilepsy Synovial disorder 1 1 GABRB3 (4) 0.06250 0.16667 3.891e-3 4.941e-3 227 Martsolf syndrome Parenchymal hematoma 1 1 SEMA3A (2) 0.06250 0.16667 3.891e-3 4.941e-3 Frontotemporal dementia with or without amyotrophic lateral sclerosis Paraplegia 1 1 SPG7 (2) 0.05882 0.20000 3.891e-3 4.941e-3 Autosomal recessive ataxia Coenzyme q10 deficiency 1 1 COQ8A (7) 0.05882 0.20000 3.891e-3 4.941e-3 Cholecystitis Upper extremity fracture 1 0 TMEM132C (1) 0.05882 0.20000 3.891e-3 4.941e-3 Autoimmune nervous system disorder Gastro-entero-pancreatic neuroendocrine tumor 1 1 EOMES (2) 0.05263 0.25000 3.891e-3 4.941e-3 Coloboma complex neurodevelopmental disorder with or without congenital anomalies 1 1 MYH10 (2) 0.05263 0.25000 3.891e-3 4.941e-3 Congenital mirror movements Hereditary breast and ovarian cancer syndrome 1 1 RAD51 (2) 0.05263 0.25000 3.891e-3 4.941e-3 Glycinuria with/without oxalate urolithiasis Macular telangiectasia 1 1 SLC6A20 (2) 0.05263 0.25000 3.891e-3 4.941e-3 Gastro-entero-pancreatic neuroendocrine tumor MHC class II deficiency 1 1 CIITA (2) 0.05263 0.25000 3.891e-3 4.941e-3 Hereditary breast and ovarian cancer syndrome Mirror movements 1 1 RAD51 (6) 0.05263 0.25000 3.891e-3 4.941e-3 Pseudo-torch syndrome Splenomegaly 1 1 OCLN (6) 0.04348 0.33333 3.892e-3 4.941e-3 Antiphospholipid syndrome Hepatitis c induced liver cirrhosis 1 0 HLA-DRA (1) 0.04348 0.33333 3.892e-3 4.941e-3 1 Bulimia Congenital palmoplantar and perioral keratoderma of olmsted 1 1 PERP (2) 0.04348 0.33333 3.892e-3 4.941e-3 Bulimia Olmsted syndrome 1 1 PERP (5) 0.04348 0.33333 3.892e-3 4.941e-3 Burn-mckeown syndrome Hypomyelinating leukodystrophy 1 1 POLR1A (5) 0.03125 0.50000 3.893e-3 4.941e-3 Dubowitz syndrome Spondylosis 1 1 LIG4 (3) 0.03125 0.50000 3.893e-3 4.941e-3 360 Cerebellar atrophy Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 1 TYROBP (5) 0.03125 0.50000 3.893e-3 4.941e-3 Lig4 syndrome Spondylosis 1 1 LIG4 (5) 0.03125 0.50000 3.893e-3 4.941e-3 360 Multiple system atrophy Rib fracture 1 0 TENM2 (1) 0.03125 0.50000 3.893e-3 4.941e-3 168 Congenital cartilage disorder Smith-mccort dysplasia 1 1 DYM (6) 0.03125 0.50000 3.893e-3 4.941e-3 B-cell acute lymphoblastic leukemia pyruvate dehydrogenase E3 deficiency 1 1 DLD (2) 0.01639 1.00000 3.897e-3 4.941e-3 Cleft palate renal hypomagnesemia 4 1 1 EGF (3) 0.01639 1.00000 3.897e-3 4.941e-3 Aortic stenosis Short stature spectrum 1 1 ACAN (2) 0.01639 1.00000 3.897e-3 4.941e-3 Cleft palate periventricular nodular heterotopia 7 1 1 NEDD4L (3) 0.01639 1.00000 3.897e-3 4.941e-3 B-cell acute lymphoblastic leukemia primary angle-closure glaucoma 1 1 SPATA13 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Frontotemporal dementia hereditary spastic paraplegia 8 1 1 WASHC5 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Aortic stenosis HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome 1 1 HMGB1 (2) 0.01639 1.00000 3.897e-3 4.941e-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 4.941e-3 hypercholesterolemia, familial, 4 Oropharyngeal cancer 1 1 LDLRAP1 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Congenital cataract nance-horan syndrome 1 1 NHS (2) 0.01639 1.00000 3.897e-3 4.941e-3 51 Congenital cataract Oculocerebrorenal syndrome 1 1 OCRL (5) 0.01639 1.00000 3.897e-3 4.941e-3 immunodeficiency 37 Testicular germ cell tumor 1 1 BCL10 (2) 0.01639 1.00000 3.897e-3 4.941e-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 4.941e-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 4.941e-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 4.941e-3 B-cell acute lymphoblastic leukemia Intracranial germ cell tumor 1 0 BAK1 (1) 0.01639 1.00000 3.897e-3 4.941e-3 Intracranial germ cell tumor Testicular carcinoma 1 0 BAK1 (1) 0.01639 1.00000 3.897e-3 4.941e-3 khan-khan-katsanis syndrome Testicular carcinoma 1 1 NCAPG2 (2) 0.01639 1.00000 3.897e-3 4.941e-3 khan-khan-katsanis syndrome Testicular germ cell tumor 1 1 NCAPG2 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Frontotemporal dementia leukoencephalopathy, diffuse hereditary, with spheroids 1 1 1 CSF1R (2) 0.01639 1.00000 3.897e-3 4.941e-3 lysinuric protein intolerance Oropharyngeal cancer 1 1 SLC7A7 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Mucosa-associated lymphoma Testicular germ cell tumor 1 1 BCL10 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Aortic stenosis Uterine benign neoplasm 1 0 BET1L (1) 0.01639 1.00000 3.897e-3 4.941e-3 Cleft palate X-linked cleft palate and ankloglossia 1 1 TBX22 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Frontotemporal dementia frontotemporal dementia and/or amyotrophic lateral sclerosis 1 1 GRN (4) 0.01639 1.00000 3.897e-3 4.941e-3 119 Frontotemporal dementia frontotemporal dementia and/or amyotrophic lateral sclerosis 5 1 1 CCNF (2) 0.01639 1.00000 3.897e-3 4.941e-3 119 Frontotemporal dementia frontotemporal dementia and/or amyotrophic lateral sclerosis 7 1 1 CHMP2B (3) 0.01639 1.00000 3.897e-3 4.941e-3 119 Frontotemporal dementia glaucoma, normal tension, susceptibility to 1 1 OPTN (2) 0.01639 1.00000 3.897e-3 4.941e-3 B-cell acute lymphoblastic leukemia Glutaminase deficiency 1 1 GLS (4) 0.01639 1.00000 3.897e-3 4.941e-3 glutaric acidemia type 3 Testicular carcinoma 1 1 SUGCT (2) 0.01639 1.00000 3.897e-3 4.941e-3 glutaric acidemia type 3 Testicular germ cell tumor 1 1 SUGCT (2) 0.01639 1.00000 3.897e-3 4.941e-3 B-cell acute lymphoblastic leukemia granulocytopenia with immunoglobulin abnormality 1 1 HYOU1 (2) 0.01639 1.00000 3.897e-3 4.941e-3 45 Early-onset calcifying leukoencephalopathy-skeletal dysplasia Frontotemporal dementia 1 1 CSF1R (3) 0.01639 1.00000 3.897e-3 4.941e-3 Congenital cataract Congenital cataract severe neonatal hepatopathy developmental delay syndrome 1 1 CYP51A1 (2) 0.01639 1.00000 3.897e-3 4.941e-3 51 Aortic stenosis Congenital hypogonadotropic hypogonadism 1 1 EMX2 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Congenital malrotation of intestine Oropharyngeal cancer 1 1 GALNT14 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Cataract-microcornea-metabolic syndrome Congenital cataract 1 1 SLC16A12 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Cerebrofaciothoracic dysplasia Oropharyngeal cancer 1 1 TMCO1 (3) 0.01639 1.00000 3.897e-3 4.941e-3 ciliary dyskinesia, primary, 54 Frontotemporal dementia 1 1 CFAP54 (2) 0.01639 1.00000 3.897e-3 4.941e-3 119 Cleft palate Cleft palate with ankyloglossia 1 1 TBX22 (5) 0.01639 1.00000 3.897e-3 4.941e-3 Cleft palate Cleft palate x-linked 1 1 TBX22 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Codas syndrome Congenital cataract 1 1 LONP1 (6) 0.01639 1.00000 3.897e-3 4.941e-3 Cleft palate Congenital posterior urethral valves 1 1 BNC2 (2) 0.01639 1.00000 3.897e-3 4.941e-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 4.941e-3 Congenital cataract Coralliform cataract 1 1 CRYGD (3) 0.01639 1.00000 3.897e-3 4.941e-3 51 Congenital cataract Deafness with cataract, intellectual disability, and polyneuropathy 1 1 PSMC3 (4) 0.01639 1.00000 3.897e-3 4.941e-3 Aortic stenosis Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome 1 1 HMGB1 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome Frontotemporal dementia 1 1 MEF2C (2) 0.01639 1.00000 3.897e-3 4.941e-3 Brain abnormalities neurodegeneration dysosteosclerosis Frontotemporal dementia 1 1 CSF1R (5) 0.01639 1.00000 3.897e-3 4.941e-3 B-cell acute lymphoblastic leukemia Casgid syndrome 1 1 GLS (2) 0.01639 1.00000 3.897e-3 4.941e-3 Cataract-growth hormone deficiency-skeletal dysplasia syndrome Congenital cataract 1 1 IARS2 (5) 0.01639 1.00000 3.897e-3 4.941e-3 Abruzzo-erickson syndrome Cleft palate 1 1 TBX22 (2) 0.01639 1.00000 3.897e-3 4.941e-3 amyotrophic lateral sclerosis type 10 Frontotemporal dementia 1 1 TARDBP (2) 0.01639 1.00000 3.897e-3 4.941e-3 amyotrophic lateral sclerosis type 12 Frontotemporal dementia 1 1 OPTN (2) 0.01639 1.00000 3.897e-3 4.941e-3 amyotrophic lateral sclerosis type 9 Frontotemporal dementia 1 1 ANG (2) 0.01639 1.00000 3.897e-3 4.941e-3 Anomalous pulmonary venous Congenital cataract 1 0 PSMC3 (1) 0.01639 1.00000 3.897e-3 4.941e-3 ARHGAP29-related non-syndromic orofacial cleft Cleft palate 1 1 ARHGAP29 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Asplenia Frontotemporal dementia 1 1 RPSA (3) 0.01639 1.00000 3.897e-3 4.941e-3 Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome B-cell acute lymphoblastic leukemia 1 1 CEBPE (3) 0.01639 1.00000 3.897e-3 4.941e-3 Axonal neuropathy Congenital cataract 1 1 GBF1 (2) 0.01639 1.00000 3.897e-3 4.941e-3 Bardet-biedl syndrome bardet-biedl syndrome 11 1 1 TRIM32 (7) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome BBS1-related ciliopathy 1 1 BBS1 (8) 0.01667 1.00000 3.832e-3 4.883e-3 8 Bardet-biedl syndrome BBS10-related ciliopathy 1 1 BBS10 (8) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome BBS12-related ciliopathy 1 1 BBS12 (7) 0.01667 1.00000 3.832e-3 4.883e-3 8 Bardet-biedl syndrome BBS2-related ciliopathy 1 1 BBS2 (8) 0.01667 1.00000 3.832e-3 4.883e-3 8 Bardet-biedl syndrome BBS4-related ciliopathy 1 1 BBS4 (7) 0.01667 1.00000 3.832e-3 4.883e-3 8 Bardet-biedl syndrome BBS5-related ciliopathy 1 1 BBS5 (7) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome BBS7-related ciliopathy 1 1 BBS7 (6) 0.01667 1.00000 3.832e-3 4.883e-3 8 Bardet-biedl syndrome BBS9-related ciliopathy 1 1 BBS9 (6) 0.01667 1.00000 3.832e-3 4.883e-3 BBS9-related ciliopathy Craniosynostosis 1 1 BBS9 (3) 0.01667 1.00000 3.832e-3 4.883e-3 Alpha-mannosidosis Craniosynostosis 1 1 MAN2B1 (4) 0.01667 1.00000 3.832e-3 4.883e-3 Alstrom syndrome Bardet-biedl syndrome 1 1 ALMS1 (3) 0.01667 1.00000 3.832e-3 4.883e-3 Craniosynostosis craniosynostosis 2 1 1 MSX2 (7) 0.01667 1.00000 3.832e-3 4.883e-3 Craniosynostosis craniosynostosis 6 1 1 ZIC1 (6) 0.01667 1.00000 3.832e-3 4.883e-3 Craniosynostosis craniosynostosis and dental anomalies 1 1 IL11RA (7) 0.01667 1.00000 3.832e-3 4.883e-3 136 Craniosynostosis Nasodigitoacoustic syndrome 1 0 GPC4 (1) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome nephronophthisis 4 1 1 NPHP4 (2) 0.01667 1.00000 3.832e-3 4.883e-3 8 Craniosynostosis oligodontia-cancer predisposition syndrome 1 1 AXIN2 (3) 0.01667 1.00000 3.832e-3 4.883e-3 Craniosynostosis Opitz g/bbb syndrome 1 1 SPECC1L (2) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome Sarcotubular myopathy 1 1 TRIM32 (7) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome Heart defect, tongue hamartoma and polysyndactyly 1 1 WDPCP (7) 0.01667 1.00000 3.832e-3 4.883e-3 8 Craniosynostosis Trident hand 1 0 NPR2 (1) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome TTC8-related ciliopathy 1 1 TTC8 (8) 0.01667 1.00000 3.832e-3 4.883e-3 Craniosynostosis Turricephaly 1 1 ZIC1 (6) 0.01667 1.00000 3.832e-3 4.883e-3 Craniosynostosis Weiss-kruszka syndrome 1 1 ZNF462 (6) 0.01667 1.00000 3.832e-3 4.883e-3 136 Craniosynostosis lethal occipital encephalocele-skeletal dysplasia syndrome 1 1 CYP26B1 (2) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome LZTFL1-related ciliopathy 1 1 LZTFL1 (7) 0.01667 1.00000 3.832e-3 4.883e-3 8 Craniosynostosis MEGF8-related Carpenter syndrome 1 1 MEGF8 (2) 0.01667 1.00000 3.832e-3 4.883e-3 Bardet-biedl syndrome MKKS-related ciliopathy 1 1 MKKS (8) 0.01667 1.00000 3.832e-3 4.883e-3 8 Peeling skin syndrome with leukonychia and acral punctate keratoses Vasculitis 1 1 CAST (6) 0.03226 0.50000 3.763e-3 4.809e-3 Congenital myasthenic syndrome Intellectual developmental disorder autism dysmorphic 1 1 CHD8 (5) 0.03226 0.50000 3.763e-3 4.809e-3 Duchenne muscular dystrophy Intellectual developmental disorder seizures extrapyramidal 1 1 SATB1 (2) 0.03226 0.50000 3.763e-3 4.809e-3 Cochlear diseases Mitochondrial dna depletion syndrome 1 1 MPV17 (4) 0.03226 0.50000 3.763e-3 4.809e-3 Dermatosparaxis ehlers-danlos syndrome Heart valve prolapse 1 1 ADAMTSL2 (2) 0.03226 0.50000 3.763e-3 4.809e-3 COG6-congenital disorder of glycosylation Ocular sarcoidosis 1 1 COG6 (2) 0.01695 1.00000 3.767e-3 4.809e-3 Congenital right-sided heart lesions Ocular sarcoidosis 1 0 SLC27A6 (1) 0.01695 1.00000 3.767e-3 4.809e-3 Coralliform cataract Hepatomegaly 1 1 CRYGD (4) 0.01695 1.00000 3.767e-3 4.809e-3 Congenital cerebral hernia Joubert syndrome 1 1 PIBF1 (5) 0.01695 1.00000 3.767e-3 4.809e-3 8 Anovulation Hepatomegaly 1 1 NR5A2 (2) 0.01695 1.00000 3.767e-3 4.809e-3 Bailey-Bloch congenital myopathy Hepatomegaly 1 1 STAC3 (2) 0.01695 1.00000 3.767e-3 4.809e-3 BBS5-related ciliopathy Ocular sarcoidosis 1 1 BBS5 (2) 0.01695 1.00000 3.767e-3 4.809e-3 immunodeficiency 126, susceptibility to Ocular sarcoidosis 1 1 PTCRA (2) 0.01695 1.00000 3.767e-3 4.809e-3 1 Joubert syndrome joubert syndrome 21 1 1 CSPP1 (6) 0.01695 1.00000 3.767e-3 4.809e-3 8 Joubert syndrome joubert syndrome 24 1 1 TCTN2 (6) 0.01695 1.00000 3.767e-3 4.809e-3 8 Joubert syndrome joubert syndrome 30 1 1 ARMC9 (6) 0.01695 1.00000 3.767e-3 4.809e-3 8 Hepatomegaly megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 MLC1 (2) 0.01695 1.00000 3.767e-3 4.809e-3 methylmalonic acidemia with homocystinuria, type cblJ Ocular sarcoidosis 1 1 ABCD4 (2) 0.01695 1.00000 3.767e-3 4.809e-3 Ocular sarcoidosis scalp-ear-nipple syndrome 1 1 KCTD1 (2) 0.01695 1.00000 3.767e-3 4.809e-3 1 Ocular sarcoidosis severe combined immunodeficiency due to CORO1A deficiency 1 1 CORO1A (2) 0.01695 1.00000 3.767e-3 4.809e-3 Hepatomegaly spinocerebellar ataxia, autosomal recessive 25 1 1 ATG5 (2) 0.01695 1.00000 3.767e-3 4.809e-3 Hepatomegaly spinocerebellar ataxia, autosomal recessive 31 1 1 ATG7 (2) 0.01695 1.00000 3.767e-3 4.809e-3 Joubert syndrome Ziegler-huang syndrome 1 1 SLC30A7 (3) 0.01695 1.00000 3.767e-3 4.809e-3 Hepatomegaly Native american myopathy 1 1 STAC3 (3) 0.01695 1.00000 3.767e-3 4.809e-3 Joubert syndrome nemaline myopathy 10 1 1 LMOD3 (2) 0.01695 1.00000 3.767e-3 4.809e-3 nephronophthisis 2 Ocular sarcoidosis 1 1 INVS (2) 0.01695 1.00000 3.767e-3 4.809e-3 Joubert syndrome nephronophthisis 4 1 1 NPHP4 (2) 0.01695 1.00000 3.767e-3 4.809e-3 8 Hepatomegaly Prolidase deficiency 1 1 PEPD (3) 0.01695 1.00000 3.767e-3 4.809e-3 H syndrome Hepatomegaly 1 1 SLC29A3 (2) 0.01695 1.00000 3.767e-3 4.809e-3 Birk-aharoni syndrome Neurodevelopmental disorder 2 1 PSMC1 (5), NRDE2 (1) 0.00213 1.00000 3.707e-3 4.741e-3 Buratti-harel syndrome Neurodevelopmental disorder 2 1 LONP2 (1), SIAH1 (5) 0.00213 1.00000 3.707e-3 4.741e-3 6 Blepharoptosis Marinesco-sjogren syndrome 1 1 SIL1 (6) 0.04545 0.33333 3.697e-3 4.735e-3 neurometabolic disorder due to serine deficiency Neuropathy 1 1 PHGDH (2) 0.04545 0.33333 3.697e-3 4.735e-3 nephrotic syndrome, type 20 Pancreatitis 1 1 TBC1D8B (2) 0.01724 1.00000 3.702e-3 4.735e-3 Movement disorder Neurodegeneration peripheral neuropathy syndrome 1 1 CLCN6 (2) 0.01724 1.00000 3.702e-3 4.735e-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 4.735e-3 Neutropenia Neutrophilic leukemia 1 1 CSF3R (2) 0.01724 1.00000 3.702e-3 4.735e-3 211 hermansky-pudlak syndrome 2 Neutropenia 1 1 AP3B1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Focal glomerulosclerosis focal segmental glomerulosclerosis and neurodevelopmental syndrome 1 1 TRIM8 (2) 0.01724 1.00000 3.702e-3 4.735e-3 20 Folic acid deficiency Osteosarcoma 1 0 DHFR (1) 0.01724 1.00000 3.702e-3 4.735e-3 Focal glomerulosclerosis free sialic acid storage disease 1 1 SLC17A5 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Movement disorder 1 1 GBA1 (4) 0.01724 1.00000 3.702e-3 4.735e-3 Ghosal hematodiaphyseal dysplasia Lymphoblastic leukemia 1 1 TBXAS1 (8) 0.01724 1.00000 3.702e-3 4.735e-3 Focal glomerulosclerosis glomerulopathy with fibronectin deposits 2 1 1 FN1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 glycogen storage disease VI Lymphoblastic leukemia 1 1 PYGL (2) 0.01724 1.00000 3.702e-3 4.735e-3 Diffuse large b-cell lymphoma immunodeficiency 97 with autoinflammation 1 1 PIK3CG (2) 0.01724 1.00000 3.702e-3 4.735e-3 KCNH1 associated disorder Osteosarcoma 1 1 KCNH1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Focal glomerulosclerosis schimke immuno-osseous dysplasia 1 1 SMARCAL1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 20 Movement disorder spinocerebellar ataxia type 29 1 1 ITPR1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Focal glomerulosclerosis spondylometaphyseal dysplasia, 'corner fracture' type 1 1 FN1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 leukemia, acute lymphoblastic, susceptibility to, 3 Lymphoblastic leukemia 1 1 PAX5 (3) 0.01724 1.00000 3.702e-3 4.735e-3 Angioedema leukodystrophy, hypomyelinating, 16 1 1 TMEM106B (2) 0.01724 1.00000 3.702e-3 4.735e-3 maturity-onset diabetes of the young type 8 Pancreatitis 1 1 CEL (3) 0.01724 1.00000 3.702e-3 4.735e-3 Osteosarcoma Temple-baraitser syndrome 1 1 KCNH1 (5) 0.01724 1.00000 3.702e-3 4.735e-3 Neutropenia Thiopurine s-methyltransferase deficiency 1 1 TPMT (3) 0.01724 1.00000 3.702e-3 4.735e-3 211 Lymphoblastic leukemia thrombocytopenia 10 1 1 PTPRJ (2) 0.01724 1.00000 3.702e-3 4.735e-3 Osteosarcoma TOPORS-related retinopathy 1 1 TOPORS (2) 0.01724 1.00000 3.702e-3 4.735e-3 Diffuse large b-cell lymphoma Upper extremity deformity, congenital 1 1 EZH2 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Neutropenia White blood cell count quantitative trait locus 1 1 ACKR1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Movement disorder Wiedemann-rautenstrauch syndrome 1 1 POLR3A (3) 0.01724 1.00000 3.702e-3 4.735e-3 Osteosarcoma X-linked dominant chondrodysplasia chassaing-lacombe type 1 1 HDAC6 (5) 0.01724 1.00000 3.702e-3 4.735e-3 Lymphoblastic leukemia PAX5-related B lymphopenia and autism spectrum disorder 1 1 PAX5 (3) 0.01724 1.00000 3.702e-3 4.735e-3 Movement disorder POLR3A-related disorder 1 1 POLR3A (2) 0.01724 1.00000 3.702e-3 4.735e-3 Bilateral vestibulopathy Osteosarcoma 1 1 RFC1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Bjornstad syndrome Movement disorder 1 1 BCS1L (6) 0.01724 1.00000 3.702e-3 4.735e-3 Corpus callosum agenesis with facial anomalies and cerebellar ataxia Dry eye syndrome 1 1 FRMD4A (3) 0.01724 1.00000 3.702e-3 4.735e-3 Cyclic hematopoiesis Neutropenia 1 1 ELANE (4) 0.01724 1.00000 3.702e-3 4.735e-3 Delpire-mcneill syndrome Movement disorder 1 1 SLC12A2 (4) 0.01724 1.00000 3.702e-3 4.735e-3 dilated cardiomyopathy 1Y Neutropenia 1 1 TPM1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia Osteosarcoma 1 1 RFC1 (5) 0.01724 1.00000 3.702e-3 4.735e-3 Chromosome 2p16.3 deletion syndrome Dry eye syndrome 1 1 NRXN1 (3) 0.01724 1.00000 3.702e-3 4.735e-3 Chromosome 5q deletion syndrome Neutropenia 1 1 RPS14 (3) 0.01724 1.00000 3.702e-3 4.735e-3 Angioedema Chromosome 5q12 deletion syndrome 1 1 PDE4D (2) 0.01724 1.00000 3.702e-3 4.735e-3 Aromatic l-amino-acid decarboxylase deficiency Lymphoblastic leukemia 1 1 DDC (4) 0.01724 1.00000 3.702e-3 4.735e-3 Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome Lymphoblastic leukemia 1 1 CEBPE (3) 0.01724 1.00000 3.702e-3 4.735e-3 autosomal recessive osteopetrosis 3 Pancreatitis 1 1 CA2 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Barber-say syndrome Dry eye syndrome 1 1 TWIST2 (7) 0.01724 1.00000 3.702e-3 4.735e-3 bardet-biedl syndrome 16 Focal glomerulosclerosis 1 1 SDCCAG8 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Bilateral congenital mydriasis Movement disorder 1 0 ITPR1 (1) 0.01724 1.00000 3.702e-3 4.735e-3 combined immunodeficiency due to MALT1 deficiency Diffuse large b-cell lymphoma 1 1 MALT1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 complex movement disorder with or without neurodevelopmental features Movement disorder 1 1 HPCA (2) 0.01724 1.00000 3.702e-3 4.735e-3 Compton-north congenital myopathy Dry eye syndrome 1 1 CNTN1 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Congenital ectodermal dysplasia of face Dry eye syndrome 1 1 TWIST2 (2) 0.01724 1.00000 3.702e-3 4.735e-3 Congenital lethal myopathy Dry eye syndrome 1 1 CNTN1 (3) 0.01724 1.00000 3.702e-3 4.735e-3 Ablepharon macrostomia syndrome Dry eye syndrome 1 1 TWIST2 (2) 0.01724 1.00000 3.702e-3 4.735e-3 agammaglobulinemia 3, autosomal recessive Diffuse large b-cell lymphoma 1 1 CD79A (2) 0.01724 1.00000 3.702e-3 4.735e-3 agammaglobulinemia 6, autosomal recessive Diffuse large b-cell lymphoma 1 1 CD79B (2) 0.01724 1.00000 3.702e-3 4.735e-3 Apolipoprotein c-iii deficiency Delirium, dementia, and cognitive disorders 1 1 APOC3 (4) 0.01754 1.00000 3.637e-3 4.668e-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 4.668e-3 Atrophic macular degeneration Cerebellar vermis atrophy 1 1 SYN3 (2) 0.01754 1.00000 3.637e-3 4.668e-3 Chops syndrome Delirium, dementia, and cognitive disorders 1 1 AFF4 (3) 0.01754 1.00000 3.637e-3 4.668e-3 Atrophic macular degeneration BARD1-related cancer predisposition 1 1 BARD1 (2) 0.01754 1.00000 3.637e-3 4.668e-3 Delirium, dementia, and cognitive disorders Intracranial hypertension 1 1 SLC4A10 (2) 0.01754 1.00000 3.637e-3 4.668e-3 Clonal hematopoiesis Isolated anhidrosis 1 1 ITPR2 (3) 0.01754 1.00000 3.637e-3 4.668e-3 Delirium, dementia, and cognitive disorders ornithine carbamoyltransferase deficiency 1 1 OTC (2) 0.01754 1.00000 3.637e-3 4.668e-3 Clonal hematopoiesis skeletal dysplasia, mild, with joint laxity and advanced bone age 1 1 CSGALNACT1 (2) 0.01754 1.00000 3.637e-3 4.668e-3 Bell's palsy spermatogenic failure 46 1 1 DNAH8 (2) 0.01754 1.00000 3.637e-3 4.668e-3 Jarcho-levin syndrome Mayer-rokitansky-kuster-hauser syndrome 1 1 TBX6 (2) 0.06667 0.14286 3.632e-3 4.667e-3 Duodenitis Gallbladder disease 1 1 ABCG8 (4) 0.06667 0.14286 3.632e-3 4.667e-3 Machado-joseph disease Pemphigus vulgaris 1 0 THSD7B (1) 0.06667 0.14286 3.632e-3 4.667e-3 Connective tissue neoplasm Pemphigus vulgaris 1 0 THSD7B (1) 0.06667 0.14286 3.632e-3 4.667e-3 Chondromalacia Peritonitis 1 0 ARHGAP15 (1) 0.06667 0.14286 3.632e-3 4.667e-3 Congenital hydrocephalus Cryptospermia 1 1 TRIM71 (4) 0.05556 0.25000 3.632e-3 4.667e-3 298 Anophthalmia Male reproductive system disease 1 1 WNT7B (2) 0.05556 0.25000 3.632e-3 4.667e-3 Endocrine system disease Parathyroid disease 1 1 EBF2 (3) 0.05556 0.25000 3.632e-3 4.667e-3 Houge janssens syndrome Papillary thyroid cancer 1 1 PPP2R5C (2) 0.05556 0.25000 3.632e-3 4.667e-3 Obstructive azoospermia Spermatogenic failure, y-linked 1 0 CFTR (1) 0.05556 0.25000 3.632e-3 4.667e-3 Idiopathic steroid-resistant nephrotic syndrome Nephrotic syndrome, steroid-resistant, autosomal recessive 1 1 NPHS2 (2) 0.03333 0.50000 3.634e-3 4.667e-3 20 Multinodular goiter Ochoa syndrome 1 1 HPSE2 (2) 0.03333 0.50000 3.634e-3 4.667e-3 Parapsoriasis Scleroderma 1 1 HLA-A (2) 0.03333 0.50000 3.634e-3 4.667e-3 Intellectual developmental disorder dysmorphic cerebellar Leber hereditary optic neuropathy 1 1 CYTB (2) 0.03333 0.50000 3.634e-3 4.667e-3 Hypertriglyceridemia Interstitial nephritis 1 1 FAN1 (4) 0.03333 0.50000 3.634e-3 4.667e-3 Intestinal hypomagnesemia Mastocytosis 1 0 TRPV6 (1) 0.03333 0.50000 3.634e-3 4.667e-3 Hepatic veno occlusive disease with immunodeficiency Lymphoid leukemia 1 1 SP140 (2) 0.03333 0.50000 3.634e-3 4.667e-3 Multinodular goiter Urofacial syndrome 1 1 HPSE2 (5) 0.03333 0.50000 3.634e-3 4.667e-3 Encephalopathy due to mitochondrial and peroxisomal fission defect Exostoses 1 1 MFF (2) 0.03333 0.50000 3.634e-3 4.667e-3 Cerebellar ataxia, neuropathy, and vestibular areflexia Hereditary parkinson disease 1 1 RFC1 (3) 0.03333 0.50000 3.634e-3 4.667e-3 Cerebellar, ocular, craniofacial, and genital syndrome Diverticulitis 1 1 NBEA (2) 0.03333 0.50000 3.634e-3 4.667e-3 2,4-dienoyl-coa reductase deficiency Multinodular goiter 1 1 NADK2 (4) 0.03333 0.50000 3.634e-3 4.667e-3 Acid-base disorder Oral cavity carcinoma 1 0 ADH1B (1) 0.03333 0.50000 3.634e-3 4.667e-3 8q24.3 microdeletion syndrome Necrosis 1 1 PUF60 (2) 0.01786 1.00000 3.572e-3 4.594e-3 Bisphosphoglycerate mutase deficiency Hemolytic anemia 1 1 BPGM (4) 0.01786 1.00000 3.572e-3 4.594e-3 Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome Necrosis 1 1 HMGB1 (2) 0.01786 1.00000 3.572e-3 4.594e-3 Camptodactyly Clear cell renal cell carcinoma 1 1 TLN2 (3) 0.01786 1.00000 3.572e-3 4.594e-3 Charcot-Marie-Tooth disease type 4B2 Hemolytic anemia 1 1 SBF2 (2) 0.01786 1.00000 3.572e-3 4.594e-3 12 Hemolytic anemia Triose phosphate isomerase deficiency 1 1 TPI1 (6) 0.01786 1.00000 3.572e-3 4.594e-3 Hemolytic anemia Uridine monophosphate hydrolase deficiency 1 1 NT5C3A (5) 0.01786 1.00000 3.572e-3 4.594e-3 12 Necrosis Verheij syndrome 1 1 PUF60 (2) 0.01786 1.00000 3.572e-3 4.594e-3 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Necrosis 1 1 CDC42 (2) 0.01786 1.00000 3.572e-3 4.594e-3 63 Hemolytic anemia pyruvate kinase deficiency of red cells 1 1 PKLR (3) 0.01786 1.00000 3.572e-3 4.594e-3 Hemolytic anemia Rh-null, amorph type 1 1 RHCE (3) 0.01786 1.00000 3.572e-3 4.594e-3 Hemolytic anemia Rh-null, regulator type 1 1 RHAG (3) 0.01786 1.00000 3.572e-3 4.594e-3 Carotid artery disease Rh-null, regulator type 1 1 RHAG (4) 0.01786 1.00000 3.572e-3 4.594e-3 Necrosis spinocerebellar ataxia, autosomal recessive 25 1 1 ATG5 (2) 0.01786 1.00000 3.572e-3 4.594e-3 Necrosis spinocerebellar ataxia, autosomal recessive 31 1 1 ATG7 (2) 0.01786 1.00000 3.572e-3 4.594e-3 63 HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome Necrosis 1 1 HMGB1 (2) 0.01786 1.00000 3.572e-3 4.594e-3 Intellectual developmental disorder dysmorphic cardiac short stature Necrosis 1 1 PUF60 (3) 0.01786 1.00000 3.572e-3 4.594e-3 Clear cell renal cell carcinoma fanconi anemia complementation group d2 1 1 FANCD2 (2) 0.01786 1.00000 3.572e-3 4.594e-3 Cutaneous lupus erythematosus Malocclusion 1 1 CSNK2B (2) 0.06250 0.20000 3.567e-3 4.593e-3 Arthrogryposis Uv-sensitive syndrome 1 1 ERCC6 (6) 0.06250 0.20000 3.567e-3 4.593e-3 Central precocious puberty Kleins syndrome 1 1 PAX3 (2) 0.06250 0.20000 3.567e-3 4.593e-3 186 Aneuploidy Mosaic variegated aneuploidy 1 1 TRIP13 (5) 0.06250 0.20000 3.567e-3 4.593e-3 Dyshidrosis Periodic limb movement disorder 1 0 PTPRD (1) 0.06250 0.20000 3.567e-3 4.593e-3 Dyshidrosis Sarcopenia 1 0 PTPRD (1) 0.06250 0.20000 3.567e-3 4.593e-3 Lymphoblastic leukemia Mixed connective tissue disease 2 0 MYRIP (1), KCNMB2 (1) 0.02500 0.08333 3.527e-3 4.542e-3 Osteomyelitis Parenchymal hematoma 1 1 ZBTB46 (2) 0.06667 0.16667 3.502e-3 4.517e-3 1 C1 esterase inhibitor deficiency Irritant dermatitis 1 1 C2 (2) 0.06667 0.16667 3.502e-3 4.517e-3 Synovial disorder Synovitis 1 0 WWP2 (1) 0.06667 0.16667 3.502e-3 4.517e-3 autosomal dominant nonsyndromic hearing loss Congenital hearing disorder 1 1 PLS1 (2) 0.06667 0.16667 3.502e-3 4.517e-3 complex neurodevelopmental disorder with motor features Kabuki syndrome 1 1 KMT2B (2) 0.06667 0.16667 3.502e-3 4.517e-3 Congenital bile acid synthesis defect Intrahepatic cholestasis 1 1 HSD3B7 (7) 0.06667 0.16667 3.502e-3 4.517e-3 Congenital disorder of deglycosylation Dyslipidemias 1 1 NEIL1 (2) 0.04762 0.33333 3.503e-3 4.517e-3 Developmental regression Early-onset generalized limb-onset dystonia 1 1 EIF2AK2 (3) 0.04762 0.33333 3.503e-3 4.517e-3 Chorioretinopathy with microcephaly Seckel syndrome 1 1 PLK4 (3) 0.04762 0.33333 3.503e-3 4.517e-3 Cirrhosis Sick sinus syndrome 1 1 KRT8 (3) 0.04762 0.33333 3.503e-3 4.517e-3 Cleidocranial dysplasia Uremia 1 1 RUNX2 (6) 0.04762 0.33333 3.503e-3 4.517e-3 Bronchial disease Urethral disease 1 0 ZFHX3 (1) 0.04762 0.33333 3.503e-3 4.517e-3 Dyslipidemias Galactosialidosis 1 1 PLTP (2) 0.04762 0.33333 3.503e-3 4.517e-3 Intellectual developmental disorder dysmorphic facial syndromic complex neurodevelopmental disorder 1 1 SETD5 (3) 0.04762 0.33333 3.503e-3 4.517e-3 Henoch schoenlein purpura Hepatitis c induced liver cirrhosis 1 0 HLA-DRA (1) 0.04762 0.33333 3.503e-3 4.517e-3 1 Progressive supranuclear palsy Uinary system neoplasms 1 0 SLC2A13 (1) 0.03448 0.50000 3.504e-3 4.517e-3 Aneurysm Vitreous body disease 1 0 NCKAP5 (1) 0.03448 0.50000 3.504e-3 4.517e-3 50 Male infertility acephalic spermatozoa Teratozoospermia 1 1 PMFBP1 (2) 0.03448 0.50000 3.504e-3 4.517e-3 Malonic aciduria Methylmalonic acidemia 1 1 ACSF3 (2) 0.03448 0.50000 3.504e-3 4.517e-3 Cortical development malformation Seborrhea-like dermatitis with psoriasiform elements 1 1 TBCD (2) 0.03448 0.50000 3.504e-3 4.517e-3 Cortical development malformation Skraban-deardorff syndrome 1 1 WDR62 (2) 0.03448 0.50000 3.504e-3 4.517e-3 Aneurysm Peeling skin syndrome with leukonychia and acral punctate keratoses 1 1 CAST (7) 0.03448 0.50000 3.504e-3 4.517e-3 Hashimoto disease Periodontal ehlers-danlos syndrome 1 1 C1S (3) 0.03448 0.50000 3.504e-3 4.517e-3 Dementia in huntington’s disease Hepatolenticular degeneration 1 1 PRNP (2) 0.03448 0.50000 3.504e-3 4.517e-3 Combined immunodeficiency, x-linked Sezary syndrome 1 1 IL2RG (3) 0.03448 0.50000 3.504e-3 4.517e-3 Aneurysm Breast fibrocystic disease 1 0 CSMD1 (1) 0.03448 0.50000 3.504e-3 4.517e-3 Amish infantile epilepsy syndrome Hashimoto disease 1 1 ATXN2 (2) 0.03448 0.50000 3.504e-3 4.517e-3 Alexander disease Non-neoplastic peripheral nervous system disease 1 1 GFAP (3) 0.01818 1.00000 3.507e-3 4.517e-3 Distal myotilinopathy Non-neoplastic peripheral nervous system disease 1 1 MYOT (2) 0.01818 1.00000 3.507e-3 4.517e-3 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 4.517e-3 Cerebellar cortical atrophy Non-neoplastic peripheral nervous system disease 1 0 MYO5A (1) 0.01818 1.00000 3.507e-3 4.517e-3 Charcot-Marie-Tooth disease axonal type 2CC Non-neoplastic peripheral nervous system disease 1 1 NEFH (2) 0.01818 1.00000 3.507e-3 4.517e-3 304 Chops syndrome Cognition disorder 1 1 AFF4 (3) 0.01818 1.00000 3.507e-3 4.517e-3 Autoimmunity-autoinflammation-immunodeficiency syndrome Psoriasis vulgaris 1 1 SOCS1 (2) 0.01818 1.00000 3.507e-3 4.517e-3 Autoinflammatory syndrome with immunodeficiency Psoriasis vulgaris 1 1 SOCS1 (3) 0.01818 1.00000 3.507e-3 4.517e-3 Autoinflammatory syndrome, familial, behcet-like Psoriasis vulgaris 1 1 TNFAIP3 (5) 0.01818 1.00000 3.507e-3 4.517e-3 Autoinflammatory syndrome, familial, with or without immunodeficiency Psoriasis vulgaris 1 1 SOCS1 (3) 0.01818 1.00000 3.507e-3 4.517e-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 4.517e-3 Aplasia of the vermis Congenital cerebral hernia 1 0 PIBF1 (1) 0.01818 1.00000 3.507e-3 4.517e-3 8 GRHL3-related orofacial clefting Psoriasis vulgaris 1 1 GRHL3 (2) 0.01818 1.00000 3.507e-3 4.517e-3 Aplasia of the vermis Heart defect, tongue hamartoma and polysyndactyly 1 1 WDPCP (4) 0.01818 1.00000 3.507e-3 4.517e-3 8 Aplasia of the vermis Ziegler-huang syndrome 1 1 SLC30A7 (2) 0.01818 1.00000 3.507e-3 4.517e-3 Aplasia of the vermis nephronophthisis 1 1 1 NPHP1 (2) 0.01818 1.00000 3.507e-3 4.517e-3 8 Cognition disorder ornithine carbamoyltransferase deficiency 1 1 OTC (2) 0.01818 1.00000 3.507e-3 4.517e-3 Aplasia of the vermis orofaciodigital syndrome type 14 1 1 C2CD3 (2) 0.01818 1.00000 3.507e-3 4.517e-3 8 Non-neoplastic peripheral nervous system disease xeroderma pigmentosum group B 1 1 ERCC3 (2) 0.01818 1.00000 3.507e-3 4.517e-3 intellectual developmental disorder 59 Psoriasis vulgaris 1 1 CAMK2G (2) 0.01818 1.00000 3.507e-3 4.517e-3 14 Cognition disorder Intracranial hypertension 1 0 SLC4A10 (1) 0.01818 1.00000 3.507e-3 4.517e-3 Aplasia of the vermis joubert syndrome 21 1 1 CSPP1 (2) 0.01818 1.00000 3.507e-3 4.517e-3 8 Aplasia of the vermis joubert syndrome 24 1 1 TCTN2 (2) 0.01818 1.00000 3.507e-3 4.517e-3 8 Aplasia of the vermis joubert syndrome 30 1 1 ARMC9 (2) 0.01818 1.00000 3.507e-3 4.517e-3 8 immunodeficiency 37 Lymphoma 1 1 BCL10 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Hyperthyroidism immunodeficiency 64 1 1 RASGRP1 (2) 0.01852 1.00000 3.442e-3 4.447e-3 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Lymphoma 1 1 RAC2 (2) 0.01852 1.00000 3.442e-3 4.447e-3 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Lymphoma 1 1 RAC2 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Intellectual developmental disorder dysmorphic skeletal hair Lymphoma 1 1 BCL11B (3) 0.01852 1.00000 3.442e-3 4.447e-3 Intellectual developmental disorder speech dysmorphic t-cell Lymphoma 1 1 BCL11B (6) 0.01852 1.00000 3.442e-3 4.447e-3 Iodide peroxidase deficiency Thyroid disease 1 1 TPO (3) 0.01852 1.00000 3.442e-3 4.447e-3 Congenital anomalies of the kidney and urinary tract nephronophthisis 1 1 1 NPHP1 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Congenital anomalies of the kidney and urinary tract nephronophthisis 4 1 1 NPHP4 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Gastric ulcer neuroblastoma, susceptibility to, 3 1 1 ALK (2) 0.01852 1.00000 3.442e-3 4.447e-3 Lymphoma neutrophil immunodeficiency syndrome 1 1 RAC2 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Hyperprolactinemia Hyperthyroidism 1 1 PRLR (4) 0.01852 1.00000 3.442e-3 4.447e-3 Congenital anomalies of the kidney and urinary tract Middle lobe syndrome 1 0 SALL1 (1) 0.01852 1.00000 3.442e-3 4.447e-3 Lymphoma Mucosa-associated lymphoma 1 1 BCL10 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Myeloproliferative disorder platelet-type bleeding disorder 17 1 1 GFI1B (2) 0.01852 1.00000 3.442e-3 4.447e-3 primary angle-closure glaucoma Thyroid disease 1 1 SPATA13 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Lymphoma T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 1 JAK3 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Myeloproliferative disorder Thrombasthenia-thrombocytopenia 1 1 GFI1B (3) 0.01852 1.00000 3.442e-3 4.447e-3 Thyroid disease Ulnar-mammary syndrome 1 1 TBX3 (6) 0.01852 1.00000 3.442e-3 4.447e-3 Lymphoma Upper extremity deformity, congenital 1 1 EZH2 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Peripheral nervous system disease xeroderma pigmentosum group B 1 1 ERCC3 (2) 0.01852 1.00000 3.442e-3 4.447e-3 Congenital anomalies of the kidney and urinary tract Yuksel-vogel-bauer syndrome 1 1 DLG5 (3) 0.01852 1.00000 3.442e-3 4.447e-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 4.447e-3 Gastric ulcer renal hypomagnesemia 4 1 1 EGF (2) 0.01852 1.00000 3.442e-3 4.447e-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 4.447e-3 congenital disorder of glycosylation type II Lymphoma 1 1 ATP6AP1 (2) 0.01852 1.00000 3.442e-3 4.447e-3 1 Dimethylglycine dehydrogenase deficiency Gastric ulcer 1 1 DMGDH (7) 0.01852 1.00000 3.442e-3 4.447e-3 Distal myotilinopathy Peripheral nervous system disease 1 1 MYOT (3) 0.01852 1.00000 3.442e-3 4.447e-3 Dyskinesia, limb and orofacial, infantile-onset Hyperthyroidism 1 1 PDE10A (4) 0.01852 1.00000 3.442e-3 4.447e-3 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Peripheral nervous system disease 1 1 UCHL1 (4) 0.01852 1.00000 3.442e-3 4.447e-3 Deafness-onychodystrophy syndrome Lymphoma 1 1 ATP6V1B2 (4) 0.01852 1.00000 3.442e-3 4.447e-3 Alexander disease Peripheral nervous system disease 1 1 GFAP (4) 0.01852 1.00000 3.442e-3 4.447e-3 Autoinflammatory syndrome, familial, behcet-like Lymphoma 1 1 TNFAIP3 (4) 0.01852 1.00000 3.442e-3 4.447e-3 Cerebellar cortical atrophy Peripheral nervous system disease 1 1 MYO5A (2) 0.01852 1.00000 3.442e-3 4.447e-3 Charcot-Marie-Tooth disease axonal type 2CC Peripheral nervous system disease 1 1 NEFH (2) 0.01852 1.00000 3.442e-3 4.447e-3 304 Childhood-onset benign chorea with striatal involvement Hyperthyroidism 1 1 PDE10A (3) 0.01852 1.00000 3.442e-3 4.447e-3 Chromosome 16p13.3 deletion syndrome Lymphoma 1 1 CREBBP (2) 0.01852 1.00000 3.442e-3 4.447e-3 1p36 deletion syndrome complex neurodevelopmental disorder with or without congenital anomalies 1 1 RERE (3) 0.05882 0.25000 3.373e-3 4.374e-3 Mitochondrial myopathy with sideroblastic anemia Posterior cortical atrophy 1 1 PUS1 (6) 0.05882 0.25000 3.373e-3 4.374e-3 Chronobiology disorder Thyroid gland neoplasms 1 1 NPAS2 (3) 0.05882 0.25000 3.373e-3 4.374e-3 Congenital lactic acidosis Thyroid gland neoplasms 1 1 PPP1R12B (2) 0.05882 0.25000 3.373e-3 4.374e-3 Macular and posterior pole degeneration Trichohepatoenteric syndrome 1 1 SKIC2 (8) 0.05882 0.25000 3.373e-3 4.374e-3 1p36 deletion syndrome Wallerian degeneration 1 1 UBE4B (3) 0.05882 0.25000 3.373e-3 4.374e-3 Amino acid metabolism disorder Thyroid hormone metabolism disorder 1 1 SECISBP2 (5) 0.03571 0.50000 3.374e-3 4.374e-3 Bradycardia Water intoxication 1 1 UTS2 (2) 0.03571 0.50000 3.374e-3 4.374e-3 Amino acid metabolism disorder Hyperprolinemia 1 1 PRODH (6) 0.03571 0.50000 3.374e-3 4.374e-3 Dyskeratosis congenita Primary cutaneous anaplastic large cell lymphoma 1 1 NPM1 (4) 0.03571 0.50000 3.374e-3 4.374e-3 Arthritis Giant axonal neuropathy 1 1 GAN (7) 0.03571 0.50000 3.374e-3 4.374e-3 Gm2 gangliosidosis Leukodystrophy 1 0 HEXA (1) 0.03571 0.50000 3.374e-3 4.374e-3 Coats plus syndrome Dyskeratosis congenita 1 1 CTC1 (4) 0.03571 0.50000 3.374e-3 4.374e-3 Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome Hydrocephalus 1 1 DPH1 (3) 0.03571 0.50000 3.374e-3 4.374e-3 Amino acid metabolism disorder Creatine deficiency 1 1 GAMT (2) 0.03571 0.50000 3.374e-3 4.374e-3 Creutzfeldt-jakob disease Dementia in huntington’s disease 1 1 PRNP (4) 0.03571 0.50000 3.374e-3 4.374e-3 Autoimmune pancreatitis Creutzfeldt-jakob disease 1 1 HLA-DQB1 (2) 0.03571 0.50000 3.374e-3 4.374e-3 Developmental delay with short stature and dysmorphic facial features Hydrocephalus 1 1 DPH1 (7) 0.03571 0.50000 3.374e-3 4.374e-3 Duplication 15q11-q13 syndrome Dyskinesia 1 1 AUTS2 (2) 0.03571 0.50000 3.374e-3 4.374e-3 Arthritis Autoimmune interstitial lung disease-arthritis syndrome 1 1 COPA (5) 0.03571 0.50000 3.374e-3 4.374e-3 Camos syndrome Dyskinesia 1 1 WDR73 (3) 0.03571 0.50000 3.374e-3 4.374e-3 Ankle fracture Creutzfeldt-jakob disease 1 1 CPED1 (3) 0.03571 0.50000 3.374e-3 4.374e-3 ADAM9-related retinopathy Retinopathy 1 1 ADAM9 (2) 0.01887 1.00000 3.377e-3 4.374e-3 238 AIPL1-related retinopathy Retinopathy 1 1 AIPL1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Alpha-n-acetylgalactosaminidase deficiency Pena-shokeir syndrome 1 1 NAGA (4) 0.01887 1.00000 3.377e-3 4.374e-3 Aminoglycoside-induced deafness Liver failure 1 1 TRMU (4) 0.01887 1.00000 3.377e-3 4.374e-3 Apolipoprotein c-ii deficiency Liver failure 1 1 APOC2 (6) 0.01887 1.00000 3.377e-3 4.374e-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 4.374e-3 Corpus callosum agenesis with facial anomalies and cerebellar ataxia Vascular disease 1 1 FRMD4A (3) 0.01887 1.00000 3.377e-3 4.374e-3 Cria syndrome Osteonecrosis of the femoral head 1 1 RIPK1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Conduct disorder Congenital absence of breast with absent nipple 1 1 PTPRF (2) 0.01887 1.00000 3.377e-3 4.374e-3 Congenital hyperammonemia Vascular disease 1 1 CPS1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Conduct disorder Congenital hypogonadotropic hypogonadism 1 1 EMX2 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Childhood-onset benign chorea with striatal involvement Conduct disorder 1 1 PDE10A (3) 0.01887 1.00000 3.377e-3 4.374e-3 413 Bladder dysfunction Vascular disease 1 1 CHRNA3 (3) 0.01887 1.00000 3.377e-3 4.374e-3 Breast/nipple aplasia or hypoplasia Conduct disorder 1 1 PTPRF (5) 0.01887 1.00000 3.377e-3 4.374e-3 Dihydropteridine reductase deficiency Liver failure 1 1 QDPR (5) 0.01887 1.00000 3.377e-3 4.374e-3 63 Arrhythmogenic right ventricular cardiomyopathy dilated cardiomyopathy 1CC 1 1 NEXN (2) 0.01887 1.00000 3.377e-3 4.374e-3 3 Arrhythmogenic right ventricular cardiomyopathy dilated cardiomyopathy 1FF 1 1 TNNI3 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Arrhythmogenic right ventricular cardiomyopathy dilated cardiomyopathy 1JJ 1 1 LAMA4 (2) 0.01887 1.00000 3.377e-3 4.374e-3 3 Arrhythmogenic right ventricular cardiomyopathy dilated cardiomyopathy 1Y 1 1 TPM1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 3 Arrhythmogenic right ventricular cardiomyopathy dilated cardiomyopathy 1Z 1 1 TNNC1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 3 Arrhythmogenic right ventricular cardiomyopathy dilated cardiomyopathy 2A 1 1 TNNI3 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Conduct disorder Dyskinesia, limb and orofacial, infantile-onset 1 1 PDE10A (4) 0.01887 1.00000 3.377e-3 4.374e-3 413 Arrhythmogenic right ventricular cardiomyopathy Atrial tachyarrhythmia, infra-hisian cardiac conduction disease 1 0 TNNI3K (1) 0.01887 1.00000 3.377e-3 4.374e-3 3 autoimmune lymphoproliferative syndrome type 1 Liver failure 1 1 FASLG (3) 0.01887 1.00000 3.377e-3 4.374e-3 63 Arrhythmogenic right ventricular cardiomyopathy familial isolated arrhythmogenic right ventricular dysplasia 1 1 DSC2 (6) 0.01887 1.00000 3.377e-3 4.374e-3 3 fructose-1,6-bisphosphatase deficiency Liver failure 1 1 FBP1 (3) 0.01887 1.00000 3.377e-3 4.374e-3 gaze palsy, familial horizontal, with progressive scoliosis 1 Retinopathy 1 1 ROBO3 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Genetic renal tubular disease Vascular disease 1 1 SLC12A3 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Retinopathy thrombocytopenia 6 1 1 SRC (2) 0.01887 1.00000 3.377e-3 4.374e-3 Urinary bladder dysfunction Vascular disease 1 1 CHRNA3 (3) 0.01887 1.00000 3.377e-3 4.374e-3 Retinopathy X-linked retinitis pigmentosa 1 1 RP2 (3) 0.01887 1.00000 3.377e-3 4.374e-3 RD3-related retinopathy Retinopathy 1 1 RD3 (2) 0.01887 1.00000 3.377e-3 4.374e-3 238 RDH5-related retinopathy Retinopathy 1 1 RDH5 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Retinopathy RP1-related dominant retinopathy 1 1 RP1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Retinopathy RP1-related recessive retinopathy 1 1 RP1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Retinopathy RP2-related retinopathy 1 1 RP2 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Pena-shokeir syndrome Schaaf-yang syndrome 1 1 MAGEL2 (5) 0.01887 1.00000 3.377e-3 4.374e-3 Pena-shokeir syndrome Schindler disease 1 1 NAGA (3) 0.01887 1.00000 3.377e-3 4.374e-3 Conduct disorder Separation anxiety disorder 1 0 DRD4 (1) 0.01887 1.00000 3.377e-3 4.374e-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 4.374e-3 413 Liver failure spinocerebellar ataxia, autosomal recessive 31 1 1 ATG7 (3) 0.01887 1.00000 3.377e-3 4.374e-3 63 Pena-shokeir syndrome succinic semialdehyde dehydrogenase deficiency 1 1 ALDH5A1 (2) 0.01887 1.00000 3.377e-3 4.374e-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 4.374e-3 immunodeficiency 57 Osteonecrosis of the femoral head 1 1 RIPK1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Arrhythmogenic right ventricular cardiomyopathy intrinsic cardiomyopathy 1 1 PLN (3) 0.01887 1.00000 3.377e-3 4.374e-3 3 Oxysterol accumulation disorder Retinopathy 1 1 CYP7B1 (3) 0.01887 1.00000 3.377e-3 4.374e-3 Arrhythmogenic right ventricular cardiomyopathy lissencephaly 10 1 1 CEP85L (2) 0.01887 1.00000 3.377e-3 4.374e-3 3 Arrhythmogenic right ventricular cardiomyopathy long qt syndrome 5 1 1 KCNE1 (2) 0.01887 1.00000 3.377e-3 4.374e-3 Liver failure medium chain acyl-coa dehydrogenase deficiency 1 1 ACADM (3) 0.01887 1.00000 3.377e-3 4.374e-3 Mowat-wilson syndrome Pena-shokeir syndrome 1 1 ZEB2 (7) 0.01887 1.00000 3.377e-3 4.374e-3 Hypo-akinesia disorder of prenatal onset Pena-shokeir syndrome 1 1 CHRNG (3) 0.01887 1.00000 3.377e-3 4.374e-3 Hypokalemia-hypomagnesemia Vascular disease 1 1 SLC12A3 (3) 0.01887 1.00000 3.377e-3 4.374e-3 Bronchiectasis MHC class I deficiency 1 1 TAP1 (2) 0.05000 0.33333 3.309e-3 4.309e-3 Gaucher disease Intellectual developmental disorder dysmorphic behavioral 1 0 MSH6 (1) 0.05000 0.33333 3.309e-3 4.309e-3 15q11.2 microdeletion syndrome Cortical dysplasia with other brain malformations 1 1 TUBG1 (4) 0.05000 0.33333 3.309e-3 4.309e-3 144 Bladder disease Male reproductive organ cancer 1 0 ZNF385B (1) 0.05000 0.33333 3.309e-3 4.309e-3 Brain malformations Toxic nodular goiter 1 1 NFIA (6) 0.05000 0.33333 3.309e-3 4.309e-3 Aneurysm Ocular hypertension 2 2 CDKN1A (2), MMP1 (2) 0.02667 0.07407 3.310e-3 4.309e-3 Multiple intestinal atresia Severe combined immunodeficiency 1 1 TTC7A (3) 0.01923 1.00000 3.312e-3 4.309e-3 Multisystem disorder Muscular dystrophy 1 1 TOR1AIP1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Muscular dystrophy myopathy caused by variation in FKTN 1 1 FKTN (2) 0.01923 1.00000 3.312e-3 4.309e-3 Muscular dystrophy myopathy, proximal, and ophthalmoplegia 1 1 MYH2 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Memory disorders Nasu-hakola disease 1 1 TYROBP (2) 0.01923 1.00000 3.312e-3 4.309e-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 4.309e-3 immunodeficiency 106, susceptibility to viral infections Narcolepsy 1 1 IFNAR1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 1 immunodeficiency 15a Severe combined immunodeficiency 1 1 IKBKB (4) 0.01923 1.00000 3.312e-3 4.309e-3 immunodeficiency 18 Severe combined immunodeficiency 1 1 CD3E (3) 0.01923 1.00000 3.312e-3 4.309e-3 10 immunodeficiency 19 Severe combined immunodeficiency 1 1 CD3D (3) 0.01923 1.00000 3.312e-3 4.309e-3 10 immunodeficiency 23 Severe combined immunodeficiency 1 1 PGM3 (2) 0.01923 1.00000 3.312e-3 4.309e-3 10 immunodeficiency 25 Severe combined immunodeficiency 1 1 CD247 (2) 0.01923 1.00000 3.312e-3 4.309e-3 immunodeficiency 92 Memory disorders 1 1 REL (3) 0.01923 1.00000 3.312e-3 4.309e-3 inflammatory bowel disease 25 Narcolepsy 1 1 IL10RB (2) 0.01923 1.00000 3.312e-3 4.309e-3 Intellectual developmental disorder autism speech dysmorphic Memory disorders 1 1 CHD1 (3) 0.01923 1.00000 3.312e-3 4.309e-3 Intellectual developmental disorder movement cerebellar Muscular dystrophy 1 1 TRAPPC11 (3) 0.01923 1.00000 3.312e-3 4.309e-3 reticular dysgenesis Severe combined immunodeficiency 1 1 AK2 (3) 0.01923 1.00000 3.312e-3 4.309e-3 10 Otosclerosis Retrognathia 1 1 PRRX1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 381 Otosclerosis Rothmund-Thomson syndrome type 1 1 1 ANAPC1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Muscular dystrophy Sarcotubular myopathy 1 1 TRIM32 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency severe combined immunodeficiency due to CARMIL2 deficiency 1 1 CARMIL2 (2) 0.01923 1.00000 3.312e-3 4.309e-3 10 Severe combined immunodeficiency severe combined immunodeficiency due to CD70 deficiency 1 1 CD70 (3) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency severe combined immunodeficiency due to CORO1A deficiency 1 1 CORO1A (5) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency severe combined immunodeficiency due to CTPS1 deficiency 1 1 CTPS1 (4) 0.01923 1.00000 3.312e-3 4.309e-3 10 Severe combined immunodeficiency severe combined immunodeficiency due to DCLRE1C deficiency 1 1 DCLRE1C (7) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency severe combined immunodeficiency due to DNA-PKcs deficiency 1 1 PRKDC (5) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency severe combined immunodeficiency due to IKK2 deficiency 1 1 IKBKB (4) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency severe combined immunodeficiency due to LAT deficiency 1 1 LAT (4) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency severe combined immunodeficiency due to LCK deficiency 1 1 LCK (4) 0.01923 1.00000 3.312e-3 4.309e-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 4.309e-3 FNIP1-associated syndrome Wolff-parkinson-white syndrome 1 1 FNIP1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 3 Ghosal hematodiaphyseal dysplasia Ischemic stroke 1 1 TBXAS1 (7) 0.01923 1.00000 3.312e-3 4.309e-3 Severe combined immunodeficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 1 JAK3 (4) 0.01923 1.00000 3.312e-3 4.309e-3 10 Severe combined immunodeficiency t-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 1 FOXN1 (3) 0.01923 1.00000 3.312e-3 4.309e-3 10 Muscular dystrophy TOR1AIP1-related myopathy 1 1 TOR1AIP1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Narcolepsy Uric acid urolithiasis 1 1 ZNF365 (2) 0.01923 1.00000 3.312e-3 4.309e-3 1 Mak-related retinopathy Otosclerosis 1 1 MAK (3) 0.01923 1.00000 3.312e-3 4.309e-3 381 Hereditary c1 esterase inhibitor deficiency Ischemic stroke 1 0 SERPING1 (1) 0.01923 1.00000 3.312e-3 4.309e-3 Narcolepsy Papillon-lefevre syndrome 1 1 CTSC (7) 0.01923 1.00000 3.312e-3 4.309e-3 purine nucleoside phosphorylase deficiency Severe combined immunodeficiency 1 1 PNP (2) 0.01923 1.00000 3.312e-3 4.309e-3 10 Birbeck granule deficiency Narcolepsy 1 1 CD207 (4) 0.01923 1.00000 3.312e-3 4.309e-3 1 Cardiac and skeletal myopathy Wolff-parkinson-white syndrome 1 1 ACTN2 (2) 0.01923 1.00000 3.312e-3 4.309e-3 arthrogryposis multiplex congenita 3, myogenic type Muscular dystrophy 1 1 SYNE1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 bardet-biedl syndrome 11 Muscular dystrophy 1 1 TRIM32 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Beta-aminoisobutyric aciduria Ischemic stroke 1 1 AGXT2 (3) 0.01923 1.00000 3.312e-3 4.309e-3 Beta-sarcoglycanopathy Muscular dystrophy 1 1 SGCB (2) 0.01923 1.00000 3.312e-3 4.309e-3 combined immunodeficiency due to CD3gamma deficiency Severe combined immunodeficiency 1 1 CD3G (2) 0.01923 1.00000 3.312e-3 4.309e-3 10 combined immunodeficiency due to DOCK8 deficiency Severe combined immunodeficiency 1 1 DOCK8 (2) 0.01923 1.00000 3.312e-3 4.309e-3 combined immunodeficiency due to LRBA deficiency Severe combined immunodeficiency 1 1 LRBA (2) 0.01923 1.00000 3.312e-3 4.309e-3 10 combined immunodeficiency due to MALT1 deficiency Severe combined immunodeficiency 1 1 MALT1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 combined immunodeficiency due to STK4 deficiency Severe combined immunodeficiency 1 1 STK4 (2) 0.01923 1.00000 3.312e-3 4.309e-3 10 combined immunodeficiency due to ZAP70 deficiency Severe combined immunodeficiency 1 1 ZAP70 (3) 0.01923 1.00000 3.312e-3 4.309e-3 Congenital insufficiency of mitral valve Narcolepsy 1 1 LMCD1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Agnathia-otocephaly Otosclerosis 1 0 PRRX1 (1) 0.01923 1.00000 3.312e-3 4.309e-3 381 Amr syndrome Otosclerosis 1 1 AHSG (2) 0.01923 1.00000 3.312e-3 4.309e-3 Anus neoplasms Ischemic stroke 1 1 IFNB1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Apolipoprotein a5 deficiency Ischemic stroke 1 1 APOA5 (2) 0.01923 1.00000 3.312e-3 4.309e-3 Caudate atrophy Memory disorders 1 0 TYROBP (1) 0.01923 1.00000 3.312e-3 4.309e-3 Cernunnos-XLF deficiency Severe combined immunodeficiency 1 1 NHEJ1 (3) 0.01923 1.00000 3.312e-3 4.309e-3 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Muscular dystrophy 1 1 MYH2 (3) 0.01923 1.00000 3.312e-3 4.309e-3 Claudication Ischemic stroke 1 0 AGXT2 (1) 0.01923 1.00000 3.312e-3 4.309e-3 Dihydropyrimidinase deficiency Otosclerosis 1 1 DPYS (5) 0.01923 1.00000 3.312e-3 4.309e-3 dilated cardiomyopathy 1I Muscular dystrophy 1 1 DES (2) 0.01923 1.00000 3.312e-3 4.309e-3 dilated cardiomyopathy 1JJ Wolff-parkinson-white syndrome 1 1 LAMA4 (2) 0.01923 1.00000 3.312e-3 4.309e-3 3 dilated cardiomyopathy 1W Wolff-parkinson-white syndrome 1 1 VCL (2) 0.01923 1.00000 3.312e-3 4.309e-3 Distal myotilinopathy Muscular dystrophy 1 1 MYOT (2) 0.01923 1.00000 3.312e-3 4.309e-3 Dysgnathia complex Otosclerosis 1 1 PRRX1 (2) 0.01923 1.00000 3.312e-3 4.309e-3 381 Advanced sleep phase syndrome Substance abuse 2 2 PER2 (4), PER3 (3) 0.00386 0.66667 3.288e-3 4.297e-3 Septo-optic dysplasia Upper extremity fracture 1 1 ARID1A (2) 0.06667 0.20000 3.243e-3 4.244e-3 Polymicrogyria Skraban-deardorff syndrome 1 0 WDR62 (1) 0.03704 0.50000 3.245e-3 4.244e-3 Acrodysostosis Gallbladder neoplasms 1 1 PDE4D (3) 0.03704 0.50000 3.245e-3 4.244e-3 Conjunctival disease Gallbladder neoplasms 1 1 DAPK1 (3) 0.03704 0.50000 3.245e-3 4.244e-3 312 Cone-rod synaptic disorder Night blindness, congenital stationary 1 1 CABP4 (4) 0.03704 0.50000 3.245e-3 4.244e-3 acute myeloid leukemia Promyelocytic leukemia 1 1 CEBPA (2) 0.01961 1.00000 3.247e-3 4.244e-3 Agnathia-otocephaly Cardiac embolism 1 0 PRRX1 (1) 0.01961 1.00000 3.247e-3 4.244e-3 Arthrogryposis with ectodermal dysplasia Hereditary hearing loss 1 1 OTOF (2) 0.01961 1.00000 3.247e-3 4.244e-3 Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome Promyelocytic leukemia 1 1 CEBPE (3) 0.01961 1.00000 3.247e-3 4.244e-3 autosomal recessive nonsyndromic hearing loss 63 Hereditary hearing loss 1 1 LRTOMT (2) 0.01961 1.00000 3.247e-3 4.244e-3 31 congenital myasthenic syndrome 12 Small vessel stroke 1 1 GFPT1 (2) 0.01961 1.00000 3.247e-3 4.244e-3 dilated cardiomyopathy 1J Hereditary hearing loss 1 1 EYA4 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Cardiac embolism Dysgnathia complex 1 1 PRRX1 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Cardiac embolism Retrognathia 1 1 PRRX1 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Hereditary hearing loss Sensorineural deafness with dilated cardiomyopathy 1 1 EYA4 (3) 0.01961 1.00000 3.247e-3 4.244e-3 Hereditary hearing loss Sensorineural hearing loss thrombocytopenia syndrome 1 1 DIAPH1 (4) 0.01961 1.00000 3.247e-3 4.244e-3 Small vessel stroke spinocerebellar ataxia, autosomal recessive 31 1 1 ATG7 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Promyelocytic leukemia Spontaneous coronary artery dissection 1 1 F3 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Hereditary hearing loss Usher syndrome type 2D 1 1 WHRN (2) 0.01961 1.00000 3.247e-3 4.244e-3 FOXG1 disorder Lissencephaly 1 1 FOXG1 (2) 0.01961 1.00000 3.247e-3 4.244e-3 gapo syndrome Small vessel stroke 1 1 ANTXR1 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Neurodevelopmental disorder with dilated cardiomyopathy Small vessel stroke 1 1 CAMK2D (2) 0.01961 1.00000 3.247e-3 4.244e-3 immunodeficiency, common variable, 14 Promyelocytic leukemia 1 1 IRF2BP2 (2) 0.01961 1.00000 3.247e-3 4.244e-3 89 Hereditary hearing loss Peripheral neuropathy myopathy hoarseness hearing loss syndrome 1 1 MYH14 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Hereditary hearing loss Peripheral neuropathy, myopathy, hoarseness, and hearing 1 1 MYH14 (4) 0.01961 1.00000 3.247e-3 4.244e-3 Hereditary hearing loss progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 1 DIAPH1 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Growth retardation, alopecia, pseudoanodontia and optic atrophy Small vessel stroke 1 1 ANTXR1 (3) 0.01961 1.00000 3.247e-3 4.244e-3 Hearing loss with hypertrophic cardiomyopathy Hereditary hearing loss 1 1 MYO6 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Cardiac embolism hereditary spherocytosis 1 1 ANK1 (2) 0.01961 1.00000 3.247e-3 4.244e-3 leukemia, acute myeloid, susceptibility to Promyelocytic leukemia 1 1 FLT3 (2) 0.01961 1.00000 3.247e-3 4.244e-3 Lissencephaly lissencephaly 10 1 1 CEP85L (5) 0.01961 1.00000 3.247e-3 4.244e-3 Lissencephaly lissencephaly spectrum disorder with complex brainstem malformation 1 1 MACF1 (5) 0.01961 1.00000 3.247e-3 4.244e-3 Lymphoblastic leukemia Skeletal dysplasia 2 2 TP63 (2), CSGALNACT1 (4) 0.02532 0.08696 3.240e-3 4.244e-3 Hypomaturation amelogenesis imperfecta Skin hair eye pigmentation variation 1 1 SLC24A4 (2) 0.07143 0.14286 3.179e-3 4.168e-3 Differentiated thyroid carcinoma hereditary sensory and autonomic neuropathy type 4 1 1 NTRK1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Differentiated thyroid carcinoma Hip dislocation-facial dysmorphism syndrome 1 1 TRIM33 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Differentiated thyroid carcinoma Hurthle cell thyroid cancer 1 1 NDUFA13 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Edema hyper-ige syndrome 6, autosomal dominant, with recurrent infections 1 1 STAT6 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Differentiated thyroid carcinoma neuroblastoma, susceptibility to, 3 1 1 ALK (2) 0.02000 1.00000 3.182e-3 4.168e-3 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Ocular hypertension 1 1 VARS1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Hypertrophy neutral lipid storage myopathy 1 1 PNPLA2 (2) 0.02000 1.00000 3.182e-3 4.168e-3 frank-ter haar syndrome Ocular hypertension 1 1 SH3PXD2B (2) 0.02000 1.00000 3.182e-3 4.168e-3 Bone fragility with contractures, arterial rupture, and deafness geroderma osteodysplastica 1 1 GORAB (2) 0.02000 1.00000 3.182e-3 4.168e-3 geroderma osteodysplastica Osteoporosis-pseudoglioma syndrome 1 1 GORAB (2) 0.02000 1.00000 3.182e-3 4.168e-3 glomerulopathy with fibronectin deposits 2 Hypertrophy 1 1 FN1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Glucocorticoid receptor deficiency/resistance Ocular hypertension 1 1 NR3C1 (5) 0.02000 1.00000 3.182e-3 4.168e-3 glycogen storage disease II Hypertrophy 1 1 GAA (2) 0.02000 1.00000 3.182e-3 4.168e-3 Glycoprotein storage disease Hypertrophy 1 1 GAA (2) 0.02000 1.00000 3.182e-3 4.168e-3 GPR161-related medulloblastoma predisposition Medulloblastoma 1 1 GPR161 (3) 0.02000 1.00000 3.182e-3 4.168e-3 Lynch syndrome RAD51D-related cancer predisposition 1 1 RAD51D (2) 0.02000 1.00000 3.182e-3 4.168e-3 Medulloblastoma Riley-day syndrome 1 1 ELP1 (5) 0.02000 1.00000 3.182e-3 4.168e-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 4.168e-3 Osteoporosis-pseudoglioma syndrome short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 1 1 SLC10A7 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Hypertrophy spondylometaphyseal dysplasia, 'corner fracture' type 1 1 FN1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Lynch syndrome thrombocytopenia 10 1 1 PTPRJ (2) 0.02000 1.00000 3.182e-3 4.168e-3 Bone fragility with contractures, arterial rupture, and deafness X-linked osteoporosis 1 1 PLS3 (4) 0.02000 1.00000 3.182e-3 4.168e-3 Sleep apnea Xia-gibbs syndrome 1 1 AHDC1 (3) 0.02000 1.00000 3.182e-3 4.168e-3 Edema lichtenstein-knorr syndrome 1 1 SLC9A1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 lissencephaly spectrum disorder with complex brainstem malformation Sleep apnea 1 1 MACF1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 immunodeficiency 97 with autoinflammation Medulloblastoma 1 1 PIK3CG (2) 0.02000 1.00000 3.182e-3 4.168e-3 37 intellectual developmental disorder, autosomal dominant 65 Medulloblastoma 1 1 KDM4B (2) 0.02000 1.00000 3.182e-3 4.168e-3 37 karyomegalic interstitial nephritis Lynch syndrome 1 1 FAN1 (3) 0.02000 1.00000 3.182e-3 4.168e-3 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 4.168e-3 Doughnut lesion of calvaria and bone fragility syndrome Osteoporosis-pseudoglioma syndrome 1 1 SGMS2 (2) 0.02000 1.00000 3.182e-3 4.168e-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 4.168e-3 127 ehlers-danlos syndrome, spondylodysplastic type, 1 Osteoporosis-pseudoglioma syndrome 1 1 B4GALT7 (2) 0.02000 1.00000 3.182e-3 4.168e-3 127 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Sleep apnea 1 1 AHDC1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Breast/nipple aplasia or hypoplasia Hypertrophy 1 1 PTPRF (5) 0.02000 1.00000 3.182e-3 4.168e-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 4.168e-3 Calvarial doughnut lesions with bone fragility Osteoporosis-pseudoglioma syndrome 1 1 SGMS2 (4) 0.02000 1.00000 3.182e-3 4.168e-3 Colorectal adenomatous polyposis Lynch syndrome 1 1 MUTYH (2) 0.02000 1.00000 3.182e-3 4.168e-3 colorectal cancer, hereditary nonpolyposis, type 7 Lynch syndrome 1 1 MLH3 (6) 0.02000 1.00000 3.182e-3 4.168e-3 Congenital absence of breast with absent nipple Hypertrophy 1 1 PTPRF (2) 0.02000 1.00000 3.182e-3 4.168e-3 Congenital posterior urethral valves Sleep apnea 1 1 BNC2 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Congenital tufting enteropathy Lynch syndrome 1 1 EPCAM (8) 0.02000 1.00000 3.182e-3 4.168e-3 Corpus callosum agenesis with facial anomalies and robin sequence Medulloblastoma 1 1 DDX3X (2) 0.02000 1.00000 3.182e-3 4.168e-3 DDOST-congenital disorder of glycosylation Ocular hypertension 1 1 DDOST (2) 0.02000 1.00000 3.182e-3 4.168e-3 296 Arboleda-tham syndrome Medulloblastoma 1 1 KAT6A (2) 0.02000 1.00000 3.182e-3 4.168e-3 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Hypertrophy 1 1 PPP3CA (4) 0.02000 1.00000 3.182e-3 4.168e-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 4.168e-3 bamforth-lazarus syndrome Differentiated thyroid carcinoma 1 1 FOXE1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Cerebellar ataxia with hearing loss Edema 1 1 SLC9A1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Chondromyxoid fibroma Differentiated thyroid carcinoma 1 1 GRM1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Chromosome 12p deletion syndrome Differentiated thyroid carcinoma 1 1 ERC1 (2) 0.02000 1.00000 3.182e-3 4.168e-3 Carotid atherosclerosis hereditary nonpolyposis colon cancer 1 1 SMARCA4 (2) 0.07143 0.16667 3.114e-3 4.096e-3 261 Cervical intraepithelial neoplasia Spermatocele 1 0 PAX8 (1) 0.07143 0.16667 3.114e-3 4.096e-3 Congenital thyroid atrophy Spermatocele 1 1 PAX8 (2) 0.07143 0.16667 3.114e-3 4.096e-3 102 Congenital hypothyroidism without goiter Spermatocele 1 1 PAX8 (2) 0.07143 0.16667 3.114e-3 4.096e-3 102 Ovarian mucinous adenocarcinoma Spermatocele 1 0 PAX8 (1) 0.07143 0.16667 3.114e-3 4.096e-3 Hoyeraal hreidarsson syndrome Paralytic strabismus 1 1 PARN (3) 0.07143 0.16667 3.114e-3 4.096e-3 Metachromatic leukodystrophy Pelizaeus-merzbacher disease 1 1 MAL (2) 0.07143 0.16667 3.114e-3 4.096e-3 Duane retraction syndrome Parathyroid disease 1 1 MAFB (7) 0.06250 0.25000 3.114e-3 4.096e-3 Knobloch syndrome Megaloblastic anemia 1 1 SLC19A1 (4) 0.06250 0.25000 3.114e-3 4.096e-3 Cachexia Hyperemesis gravidarum 1 1 GDF15 (3) 0.06250 0.25000 3.114e-3 4.096e-3 Autoimmune musculoskeletal system disorder muscular dystrophy, limb-girdle, autosomal dominant 1 1 TNPO3 (2) 0.06250 0.25000 3.114e-3 4.096e-3 muscular dystrophy, limb-girdle, autosomal dominant Myofibrillar myopathy 1 1 DNAJB6 (2) 0.06250 0.25000 3.114e-3 4.096e-3 Trichohepatoenteric syndrome Urinary system neoplasms 1 1 SKIC3 (7) 0.06250 0.25000 3.114e-3 4.096e-3 Paralysis Wallerian degeneration 1 0 SIRT1 (1) 0.06250 0.25000 3.114e-3 4.096e-3 Mulibrey nanism Stomach disease 1 1 TRPM3 (2) 0.06250 0.25000 3.114e-3 4.096e-3 122 Chromosome 2q37 deletion syndrome Diabetes complications 1 1 HDAC4 (4) 0.06250 0.25000 3.114e-3 4.096e-3 Endocrine neoplasms Eye neoplasms 1 1 KDR (2) 0.06250 0.25000 3.114e-3 4.096e-3 Congenital chloride diarrhea Intestinal obstruction 1 1 SLC26A3 (3) 0.06250 0.25000 3.114e-3 4.096e-3 Corneal disease Corneal edema 1 0 TCF4 (1) 0.06250 0.25000 3.114e-3 4.096e-3 283 Corneal edema Paranoia 1 1 TCF4 (2) 0.06250 0.25000 3.114e-3 4.096e-3 283 Advanced sleep phase syndrome Seasonal affective disorder 1 1 PER3 (2) 0.05263 0.33333 3.114e-3 4.096e-3 Developmental disorder Wheat allergic reaction 1 0 RBFOX1 (1) 0.05263 0.33333 3.114e-3 4.096e-3 Lymphedema Malignant glioma 1 0 PAX7 (1) 0.05263 0.33333 3.114e-3 4.096e-3 Mitochondrial encephalomyopathy Mitochondrial encephalopathy 1 1 FOXRED1 (2) 0.05263 0.33333 3.114e-3 4.096e-3 Hydrops fetalis Insulin dependent diabetes mellitus secretory diarrhea syndrome 1 1 FOXP3 (2) 0.05263 0.33333 3.114e-3 4.096e-3 Hyperaldosteronism Intellectual developmental disorder seizures extrapyramidal 1 1 SATB1 (2) 0.03846 0.50000 3.115e-3 4.096e-3 Lafora disease Progressive myoclonic epilepsy 1 1 NHLRC1 (4) 0.03846 0.50000 3.115e-3 4.096e-3 339 Ovarian hyperstimulation syndrome Transient ischemic attack 1 0 SERPINF1 (1) 0.03846 0.50000 3.115e-3 4.096e-3 Blood coagulation disorder Peeling skin syndrome with leukonychia and acral punctate keratoses 1 1 CAST (7) 0.03846 0.50000 3.115e-3 4.096e-3 Periventricular leukomalacia Uterine polyp 1 1 PLEKHG1 (2) 0.03846 0.50000 3.115e-3 4.096e-3 138 Vulto-van silfhout-de vries syndrome Williams syndrome 1 1 DLG4 (2) 0.03846 0.50000 3.115e-3 4.096e-3 Peroxisome biogenesis disorder Refsum disease 1 1 PEX7 (6) 0.03846 0.50000 3.115e-3 4.096e-3 Curry-hall syndrome Short rib dysplasia-polydactyly syndrome 1 1 EVC2 (2) 0.03846 0.50000 3.115e-3 4.096e-3 Cardiac, facial, and digital anomalies with developmental delay Uranostaphyloschisis 1 1 MEIS2 (3) 0.03846 0.50000 3.115e-3 4.096e-3 Central nervous system malformation Progressive myoclonic epilepsy 1 1 LMNB2 (5) 0.03846 0.50000 3.115e-3 4.096e-3 Chromosome 2q32-q33 deletion syndrome Uranostaphyloschisis 1 1 SATB2 (3) 0.03846 0.50000 3.115e-3 4.096e-3 Angiocentric glioma Deficiency anemia 1 1 MYB (2) 0.03846 0.50000 3.115e-3 4.096e-3 ALG9-associated autosomal dominant polycystic kidney disease Polycystic kidney disease 1 1 ALG9 (6) 0.02041 1.00000 3.117e-3 4.096e-3 97 Endometrioid carcinoma Genetic predisposition to disease 1 0 MSLN (1) 0.02041 1.00000 3.117e-3 4.096e-3 Polycystic kidney disease renal dysplasia, cystic, susceptibility to 1 1 BICC1 (2) 0.02041 1.00000 3.117e-3 4.096e-3 Genetic predisposition to disease renal hypomagnesemia 4 1 1 EGF (2) 0.02041 1.00000 3.117e-3 4.096e-3 Polycystic kidney disease renal-hepatic-pancreatic dysplasia 2 1 1 NEK8 (7) 0.02041 1.00000 3.117e-3 4.096e-3 Intellectual developmental disorder dysmorphic hypotonia Neural tube defect 1 1 KMT5B (2) 0.02041 1.00000 3.117e-3 4.096e-3 Diabetic eye disease lissencephaly spectrum disorder with complex brainstem malformation 1 1 MACF1 (2) 0.02041 1.00000 3.117e-3 4.096e-3 Diabetic eye disease Male infertility motility disorder 1 1 CCDC146 (2) 0.02041 1.00000 3.117e-3 4.096e-3 MKKS-related ciliopathy Polycystic kidney disease 1 1 MKKS (2) 0.02041 1.00000 3.117e-3 4.096e-3 frontorhiny Neural tube defect 1 1 ALX3 (3) 0.02041 1.00000 3.117e-3 4.096e-3 GRHL3-related orofacial clefting Neural tube defect 1 1 GRHL3 (3) 0.02041 1.00000 3.117e-3 4.096e-3 Diabetic eye disease hereditary spherocytosis 1 1 ANK1 (2) 0.02041 1.00000 3.117e-3 4.096e-3 Diabetic eye disease Thiopurine immunosuppressant-induced pancreatitis 1 0 HLA-DQB3 (1) 0.02041 1.00000 3.117e-3 4.096e-3 Polycystic kidney disease thrombocytopenia 6 1 1 SRC (3) 0.02041 1.00000 3.117e-3 4.096e-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 4.096e-3 97 Polycystic kidney disease polycystic liver disease 1 1 1 PRKCSH (3) 0.02041 1.00000 3.117e-3 4.096e-3 97 Polycystic kidney disease polycystic liver disease 2 1 1 SEC63 (3) 0.02041 1.00000 3.117e-3 4.096e-3 97 nephronophthisis 16 Polycystic kidney disease 1 1 ANKS6 (3) 0.02041 1.00000 3.117e-3 4.096e-3 Neural tube defect neurodegenerative syndrome due to cerebral folate transport deficiency 1 1 FOLR1 (3) 0.02041 1.00000 3.117e-3 4.096e-3 Myoclonus-renal failure syndrome Rolandic epilepsy 1 1 SCARB2 (2) 0.02083 1.00000 3.052e-3 4.025e-3 myoglobinuria, acute recurrent, autosomal recessive Neoplasms 1 1 LPIN1 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Gastrointestinal stromal tumor nephronophthisis 7 1 1 GLIS2 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Gastrointestinal stromal tumor orofaciodigital syndrome type 14 1 1 C2CD3 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Farber disease Rolandic epilepsy 1 1 ASAH1 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Female restricted epilepsy with intellectual disability Rolandic epilepsy 1 1 PCDH19 (2) 0.02083 1.00000 3.052e-3 4.025e-3 228 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Neoplasms 1 1 CCND2 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Gastrointestinal stromal tumor RAB23-related Carpenter syndrome 1 1 RAB23 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Rolandic epilepsy self-limited familial neonatal epilepsy 1 1 KCNQ3 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Hypogonadotropic hypogonadism SOX11-related complex neurodevelopmental disorder with or without congenital anomalies 1 1 SOX11 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Gastrointestinal stromal tumor immunodeficiency 18 1 1 CD3E (2) 0.02083 1.00000 3.052e-3 4.025e-3 Hypogonadotropic hypogonadism Intellectual developmental disorder microcephaly ocular 1 1 SOX11 (4) 0.02083 1.00000 3.052e-3 4.025e-3 Hypogonadotropic hypogonadism Isolated follicle-stimulating hormone deficiency 1 1 FSHB (5) 0.02083 1.00000 3.052e-3 4.025e-3 Hypogonadotropic hypogonadism POLR3B-related disorder 1 1 POLR3B (2) 0.02083 1.00000 3.052e-3 4.025e-3 pseudohyperaldosteronism type 2 Rolandic epilepsy 1 1 NR3C2 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Pseudohypoaldosteronism Rolandic epilepsy 1 1 NR3C2 (4) 0.02083 1.00000 3.052e-3 4.025e-3 Head and neck neoplasms Hepatoerythropoietic porphyria 1 1 UROD (4) 0.02083 1.00000 3.052e-3 4.025e-3 hereditary mixed polyposis syndrome Neoplasms 1 1 GREM1 (2) 0.02083 1.00000 3.052e-3 4.025e-3 21 holt-oram syndrome Mitral valve prolapse 1 1 TBX5 (2) 0.02083 1.00000 3.052e-3 4.025e-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 4.025e-3 Head and neck neoplasms hypercholesterolemia, familial, 4 1 1 LDLRAP1 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Dihydropyrimidine dehydrogenase deficiency Head and neck neoplasms 1 1 DPYD (6) 0.02083 1.00000 3.052e-3 4.025e-3 Duplication of pituitary gland Gastrointestinal stromal tumor 1 1 PTCH2 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Early-onset hypertension with severe exacerbation in pregnancy Rolandic epilepsy 1 1 NR3C2 (4) 0.02083 1.00000 3.052e-3 4.025e-3 1p21.3 microdeletion syndrome Head and neck neoplasms 1 1 DPYD (3) 0.02083 1.00000 3.052e-3 4.025e-3 Acrocapitofemoral dysplasia Gastrointestinal stromal tumor 1 1 IHH (2) 0.02083 1.00000 3.052e-3 4.025e-3 acute myeloid leukemia Head and neck neoplasms 1 1 CEBPA (2) 0.02083 1.00000 3.052e-3 4.025e-3 Alveolar capillary dysplasia Gastrointestinal stromal tumor 1 1 FOXF1 (2) 0.02083 1.00000 3.052e-3 4.025e-3 congenital myasthenic syndrome 7 Mitral valve prolapse 1 1 SYT2 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Cortical dysplasia-focal epilepsy syndrome Rolandic epilepsy 1 1 CNTNAP2 (4) 0.02083 1.00000 3.052e-3 4.025e-3 Chondrodysplasia-difference of sex development syndrome Gastrointestinal stromal tumor 1 1 HHAT (2) 0.02083 1.00000 3.052e-3 4.025e-3 Chondrodysplasia-pseudohypohermaphroditism syndrome Gastrointestinal stromal tumor 1 1 HHAT (3) 0.02083 1.00000 3.052e-3 4.025e-3 ciliary dyskinesia, primary, 46 Gastrointestinal stromal tumor 1 1 STK36 (2) 0.02083 1.00000 3.052e-3 4.025e-3 110 ASAH1-related sphingolipidosis Rolandic epilepsy 1 1 ASAH1 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Congenital alveolar capillary dysplasia Gastrointestinal stromal tumor 1 1 FOXF1 (2) 0.02083 1.00000 3.052e-3 4.025e-3 Congenital insufficiency of mitral valve Mitral valve prolapse 1 1 LMCD1 (3) 0.02083 1.00000 3.052e-3 4.025e-3 Brachydactyly-elbow wrist dysplasia syndrome Congenital clubfoot 1 1 PITX1 (2) 0.04000 0.50000 2.985e-3 3.948e-3 Dysautonomia Systemic mastocytosis 1 1 TPSAB1 (3) 0.04000 0.50000 2.985e-3 3.948e-3 Dyschromatopsia Systemic mastocytosis 1 1 EYS (2) 0.04000 0.50000 2.985e-3 3.948e-3 Corneal endothelial dystrophy Fuchs endothelial dystrophy 1 1 SLC4A11 (5) 0.04000 0.50000 2.985e-3 3.948e-3 87 Cobblestone lissencephaly Fuchs endothelial dystrophy 1 1 LAMB1 (6) 0.04000 0.50000 2.985e-3 3.948e-3 Bullous pemphigoid Syndactyly of the toes 1 1 DHCR7 (2) 0.04000 0.50000 2.985e-3 3.948e-3 Congenital impairment of spermatozoa motility Male infertility teratozoospermia 1 0 CFAP251 (1) 0.04000 0.50000 2.985e-3 3.948e-3 11 Microscopic colitis Nasal disorder 1 0 CLEC16A (1) 0.04000 0.50000 2.985e-3 3.948e-3 Anti-neutrophil antibody associated vasculitis Factor viii deficiency 1 1 F8 (3) 0.04000 0.50000 2.985e-3 3.948e-3 Diffuse cutaneous systemic sclerosis Fetal erythroblastosis 1 0 FCGR2A (1) 0.04000 0.50000 2.985e-3 3.948e-3 immunodeficiency 104 Nasal disorder 1 1 IL7R (2) 0.04000 0.50000 2.985e-3 3.948e-3 103 Intellectual developmental disorder dysmorphic microcephaly Skeletal dysplasia 1 1 COPB1 (2) 0.04000 0.50000 2.985e-3 3.948e-3 Immune system disease immunodeficiency 25 1 1 CD247 (2) 0.02128 1.00000 2.987e-3 3.948e-3 immunodeficiency-centromeric instability-facial anomalies syndrome 1 Myelodysplastic syndrome 1 1 DNMT3B (2) 0.02128 1.00000 2.987e-3 3.948e-3 intrinsic cardiomyopathy Ventricular dysfunction 1 1 PLN (2) 0.02128 1.00000 2.987e-3 3.948e-3 ITPKB deficiency Urticaria 1 1 ITPKB (2) 0.02128 1.00000 2.987e-3 3.948e-3 Cerebral palsy mosaic variegated aneuploidy syndrome 1 1 1 BUB1B (2) 0.02128 1.00000 2.987e-3 3.948e-3 RDH5-related retinopathy Retinal detachment 1 1 RDH5 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Cerebral palsy spastic paraplegia, intellectual disability, nystagmus, and obesity 1 1 KIDINS220 (2) 0.02128 1.00000 2.987e-3 3.948e-3 neutral lipid storage myopathy Ventricular dysfunction 1 1 PNPLA2 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Myelodysplastic syndrome normophosphatemic familial tumoral calcinosis 1 1 SAMD9 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Cerebral palsy obsolete early infantile epileptic encephalopathy 1 1 GAD1 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Calcinosis Hereditary arterial and articular multiple calcification syndrome 1 1 NT5E (6) 0.02128 1.00000 2.987e-3 3.948e-3 391 hyper-ige syndrome 6, autosomal dominant, with recurrent infections Urticaria 1 1 STAT6 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Hypercholesterolemia hypercholesterolemia, autosomal dominant, 3 1 1 PCSK9 (6) 0.02128 1.00000 2.987e-3 3.948e-3 Hypercholesterolemia hypercholesterolemia, familial, 4 1 1 LDLRAP1 (5) 0.02128 1.00000 2.987e-3 3.948e-3 57 glycogen storage disease II Ventricular dysfunction 1 1 GAA (2) 0.02128 1.00000 2.987e-3 3.948e-3 Glycoprotein storage disease Ventricular dysfunction 1 1 GAA (2) 0.02128 1.00000 2.987e-3 3.948e-3 primary ciliary dyskinesia 23 Retinal detachment 1 1 ODAD2 (2) 0.02128 1.00000 2.987e-3 3.948e-3 pseudohyperaldosteronism type 2 Ventricular dysfunction 1 1 NR3C2 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Pseudohypoaldosteronism Ventricular dysfunction 1 1 NR3C2 (4) 0.02128 1.00000 2.987e-3 3.948e-3 Cerebral palsy pseudohypoaldosteronism type 2D 1 1 KLHL3 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Immune system disease pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 1 1 EIF2AK4 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Immune system disease temtamy preaxial brachydactyly syndrome 1 1 CHSY1 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Immune system disease TRPM1-related retinopathy 1 1 TRPM1 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Myelodysplastic syndrome Upper extremity deformity, congenital 1 1 EZH2 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Cerebral palsy Ventriculomegaly with arthrogryposis 1 1 KIDINS220 (4) 0.02128 1.00000 2.987e-3 3.948e-3 Calcinosis Vitamin k deficiency 1 1 BGLAP (2) 0.02128 1.00000 2.987e-3 3.948e-3 391 Myelodysplastic syndrome Xq25 microduplication syndrome 1 1 STAG2 (4) 0.02128 1.00000 2.987e-3 3.948e-3 Retinal detachment Yuksel-vogel-bauer syndrome 1 1 DLG5 (4) 0.02128 1.00000 2.987e-3 3.948e-3 Chromosome 5q deletion syndrome Myelodysplastic syndrome 1 1 RPS14 (4) 0.02128 1.00000 2.987e-3 3.948e-3 Chromosome xq25 duplication syndrome Myelodysplastic syndrome 1 1 STAG2 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Bile acid conjugation defect Hypercholesterolemia 1 1 BAAT (6) 0.02128 1.00000 2.987e-3 3.948e-3 Abetalipoproteinemia Hypercholesterolemia 1 1 MTTP (2) 0.02128 1.00000 2.987e-3 3.948e-3 Acrokeratosis verruciformis Ventricular dysfunction 1 1 ATP2A2 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Amr syndrome Calcinosis 1 0 AHSG (1) 0.02128 1.00000 2.987e-3 3.948e-3 anterior segment dysgenesis 8 Retinal detachment 1 1 CPAMD8 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Apolipoprotein a-ii amyloidosis Hypercholesterolemia 1 1 APOA2 (4) 0.02128 1.00000 2.987e-3 3.948e-3 Apolipoprotein a-ii deficiency Hypercholesterolemia 1 1 APOA2 (3) 0.02128 1.00000 2.987e-3 3.948e-3 Apolipoprotein c-iii deficiency Hypercholesterolemia 1 1 APOC3 (4) 0.02128 1.00000 2.987e-3 3.948e-3 combined immunodeficiency due to STIM1 deficiency Urticaria 1 1 STIM1 (2) 0.02128 1.00000 2.987e-3 3.948e-3 Cranioosteoarthropathy Thyroid neoplasms 1 1 HPGD (4) 0.02128 1.00000 2.987e-3 3.948e-3 Digital clubbing, isolated congenital Thyroid neoplasms 1 1 HPGD (2) 0.02128 1.00000 2.987e-3 3.948e-3 Early-onset hypertension with severe exacerbation in pregnancy Ventricular dysfunction 1 1 NR3C2 (3) 0.02128 1.00000 2.987e-3 3.948e-3 Cerebral palsy Ectopic thyroid tissue 1 1 FBXO31 (2) 0.02128 1.00000 2.987e-3 3.948e-3 33 Diabetic foot Hepatic insufficiency 1 1 MAPK14 (2) 0.07143 0.20000 2.919e-3 3.876e-3 Aneuploidy Splenic disease 1 1 TLX1 (2) 0.07143 0.20000 2.919e-3 3.876e-3 Asperger syndrome Urinary bladder diseases 1 1 VIP (3) 0.07143 0.20000 2.919e-3 3.876e-3 autosomal dominant nonsyndromic hearing loss Intervertebral disc displacement 1 1 COL11A1 (3) 0.07143 0.20000 2.919e-3 3.876e-3 22q11.2 deletion syndrome Myoclonic encephalopathy 1 1 JMJD1C (3) 0.07143 0.20000 2.919e-3 3.876e-3 Epilepsy of infancy with migrating focal seizures Myoclonic encephalopathy 1 1 SLC25A22 (3) 0.07143 0.20000 2.919e-3 3.876e-3 Malignant migrating partial seizures of infancy Myoclonic encephalopathy 1 1 SLC25A22 (2) 0.07143 0.20000 2.919e-3 3.876e-3 Intervertebral disc displacement Peritoneal disease 1 1 COL11A1 (3) 0.07143 0.20000 2.919e-3 3.876e-3 Hypotonia-cystinuria syndrome Mitochondrial myopathy 1 1 CAMKMT (3) 0.05556 0.33333 2.920e-3 3.876e-3 Urethral disease Urinary system disease 1 0 ERC1 (1) 0.05556 0.33333 2.920e-3 3.876e-3 Dyschromatosis symmetrica hereditaria Rotator cuff tear 1 1 SASH1 (6) 0.05556 0.33333 2.920e-3 3.876e-3 378 Hemiparkinsonism Secondary parkinson disease 1 1 SNCA (2) 0.05556 0.33333 2.920e-3 3.876e-3 395 Hyperglycinuria Macular telangiectasia 1 1 SLC6A20 (2) 0.05556 0.33333 2.920e-3 3.876e-3 Hyperpituitarism Orthostatic hypotension 1 1 ABCB1 (3) 0.05556 0.33333 2.920e-3 3.876e-3 120 Coloboma Early onset vitamin b6 dependent epilepsy 1 1 ALDH7A1 (2) 0.05556 0.33333 2.920e-3 3.876e-3 Anorectal malformation Antithrombin deficiency 1 1 MUC5B (2) 0.05556 0.33333 2.920e-3 3.876e-3 Bailey-Bloch congenital myopathy Congenital myopathy 1 1 STAC3 (3) 0.02174 1.00000 2.922e-3 3.876e-3 Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy Non-immune hydrops fetalis 1 1 CTSA (2) 0.02174 1.00000 2.922e-3 3.876e-3 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Congenital myopathy 1 1 MYH2 (4) 0.02174 1.00000 2.922e-3 3.876e-3 ciliary dyskinesia, primary, 40 Non-immune hydrops fetalis 1 1 DNAH9 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Body skin hyperlaxity Pulmonary arterial hypertension 1 1 GGCX (6) 0.02174 1.00000 2.922e-3 3.876e-3 Borjeson-forssman-lehmann syndrome Pulmonary arterial hypertension 1 1 PHF6 (7) 0.02174 1.00000 2.922e-3 3.876e-3 Brachydactyly with hypertension Thrombosis 1 1 PDE3A (4) 0.02174 1.00000 2.922e-3 3.876e-3 Cardiac and skeletal myopathy Congenital myopathy 1 1 ACTN2 (3) 0.02174 1.00000 2.922e-3 3.876e-3 Desmosterolosis Non-immune hydrops fetalis 1 1 DHCR24 (7) 0.02174 1.00000 2.922e-3 3.876e-3 49 Congenital myopathy Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1 1 MEGF10 (4) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital myopathy congenital myopathy with myasthenic-like onset 1 1 PAX7 (3) 0.02174 1.00000 2.922e-3 3.876e-3 Bronchopulmonary dysplasia Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome 1 0 ITGA3 (1) 0.02174 1.00000 2.922e-3 3.876e-3 Bronchopulmonary dysplasia Congenital phimosis 1 0 ITGA3 (1) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital sialidosis Non-immune hydrops fetalis 1 1 NEU1 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital myopathy Cytochrome-b5 reductase deficiency 1 1 CYB5R3 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Combined deficiency of sialidase and beta galactosidase Non-immune hydrops fetalis 1 1 CTSA (2) 0.02174 1.00000 2.922e-3 3.876e-3 Compton-north congenital myopathy Congenital myopathy 1 1 CNTN1 (3) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital factor x deficiency Thrombosis 1 1 F10 (4) 0.02174 1.00000 2.922e-3 3.876e-3 congenital heart defects, multiple types, 7 Non-immune hydrops fetalis 1 1 FLT4 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital hypoplasia of penis Pulmonary arterial hypertension 1 0 PHF6 (1) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital lethal myopathy Congenital myopathy 1 1 CNTN1 (3) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital malrotation of intestine Non-immune hydrops fetalis 1 0 GALNT14 (1) 0.02174 1.00000 2.922e-3 3.876e-3 49 Congenital methemoglobinemia Congenital myopathy 1 0 CYB5R3 (1) 0.02174 1.00000 2.922e-3 3.876e-3 Hypertension and brachydactyly syndrome Thrombosis 1 1 PDE3A (2) 0.02174 1.00000 2.922e-3 3.876e-3 Thrombomodulin-related bleeding disorder Thrombosis 1 1 THBD (5) 0.02174 1.00000 2.922e-3 3.876e-3 36 Congenital myopathy Intellectual developmental disorder seizures behavioral 1 1 ALG14 (3) 0.02174 1.00000 2.922e-3 3.876e-3 Bronchopulmonary dysplasia interstitial lung disease 1 1 1 SFTPA1 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital myopathy muscular dystrophy-dystroglycanopathy 1 1 LARGE1 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital myopathy myopathy, proximal, and ophthalmoplegia 1 1 MYH2 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital myopathy Native american myopathy 1 1 STAC3 (4) 0.02174 1.00000 2.922e-3 3.876e-3 Bronchopulmonary dysplasia neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan 1 1 DAG1 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Non-immune hydrops fetalis obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 1 1 PIEZO1 (2) 0.02174 1.00000 2.922e-3 3.876e-3 leukemia, acute myeloid, susceptibility to Thrombosis 1 1 FLT3 (2) 0.02174 1.00000 2.922e-3 3.876e-3 lymphatic malformation 1 Non-immune hydrops fetalis 1 1 FLT4 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital myopathy MEGF10-related myopathy 1 1 MEGF10 (3) 0.02174 1.00000 2.922e-3 3.876e-3 MERTK-related retinopathy Thrombosis 1 1 MERTK (2) 0.02174 1.00000 2.922e-3 3.876e-3 36 mucopolysaccharidosis type 7 Non-immune hydrops fetalis 1 1 GUSB (2) 0.02174 1.00000 2.922e-3 3.876e-3 Congenital myopathy SELENON-related myopathy 1 1 SELENON (4) 0.02174 1.00000 2.922e-3 3.876e-3 Non-immune hydrops fetalis Sialidosis 1 1 NEU1 (5) 0.02174 1.00000 2.922e-3 3.876e-3 Spontaneous coronary artery dissection Thrombosis 1 1 F3 (2) 0.02174 1.00000 2.922e-3 3.876e-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 3.876e-3 49 platelet-type bleeding disorder 8 Thrombosis 1 1 P2RY12 (2) 0.02174 1.00000 2.922e-3 3.876e-3 platelet-type von Willebrand disease Thrombosis 1 1 GP1BA (2) 0.02174 1.00000 2.922e-3 3.876e-3 protein S deficiency Thrombosis 1 1 PROS1 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Pulmonary arterial hypertension pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 1 1 EIF2AK4 (4) 0.02174 1.00000 2.922e-3 3.876e-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 3.876e-3 Factor x deficiency Thrombosis 1 1 F10 (3) 0.02174 1.00000 2.922e-3 3.876e-3 Bronchopulmonary dysplasia familial isolated arrhythmogenic right ventricular dysplasia 1 1 DSC2 (2) 0.02174 1.00000 2.922e-3 3.876e-3 Bronchopulmonary dysplasia Genetic generalized epilepsy 1 0 TNK2 (1) 0.02174 1.00000 2.922e-3 3.876e-3 133 Knobloch syndrome Transposition of the great arteries 1 0 SLC19A1 (1) 0.06667 0.25000 2.855e-3 3.805e-3 Hyperemesis gravidarum Sideroblastic anemia 1 1 GDF15 (4) 0.06667 0.25000 2.855e-3 3.805e-3 Testicular hydrocele Testotoxicosis 1 1 INHBB (3) 0.06667 0.25000 2.855e-3 3.805e-3 Demyelinating diseases Wallerian degeneration 1 1 SIRT1 (2) 0.06667 0.25000 2.855e-3 3.805e-3 Cardiovascular abnormalities Primary graft dysfunction 1 1 GATA2 (2) 0.06667 0.25000 2.855e-3 3.805e-3 126 Sarcopenia Xeroderma 1 1 SUPV3L1 (2) 0.06667 0.25000 2.855e-3 3.805e-3 Chromosomal disorder Silver-russell syndrome 1 1 GRB10 (2) 0.06667 0.25000 2.855e-3 3.805e-3 323 Ataxia telangiectasia Chromosome 2q37 deletion syndrome 1 1 HDAC4 (4) 0.06667 0.25000 2.855e-3 3.805e-3 Auriculocondylar syndrome Cardiovascular abnormalities 1 1 EDN1 (7) 0.06667 0.25000 2.855e-3 3.805e-3 Central serous retinopathy Developmental delay with impaired growth and dysmorphic facies 1 1 ARFGEF1 (5) 0.06667 0.25000 2.855e-3 3.805e-3 Acral peeling skin syndrome Nasopharyngeal carcinoma 1 1 CSTA (2) 0.04167 0.50000 2.856e-3 3.805e-3 Agenesis of corpus callosum Cerebral arteriovenous malformations 1 1 CDH2 (3) 0.04167 0.50000 2.856e-3 3.805e-3 Congenital bilateral absence of vas deferens Sinusitis 1 1 CFTR (5) 0.04167 0.50000 2.856e-3 3.805e-3 Cerebral arteriovenous malformations Congenital cerebral aneurysm 1 0 PDCD10 (1) 0.04167 0.50000 2.856e-3 3.805e-3 Cerebral arteriovenous malformations Congenital malformation of cerebral vessels 1 0 PDCD10 (1) 0.04167 0.50000 2.856e-3 3.805e-3 Blepharitis Erythematosquamous dermatosis 1 0 MC1R (1) 0.04167 0.50000 2.856e-3 3.805e-3 Congenital nervous system disorder Febrile convulsion 1 1 UNC13A (3) 0.04167 0.50000 2.856e-3 3.805e-3 Sialolithiasis Soft tissue neoplasms 1 0 EPHB1 (1) 0.04167 0.50000 2.856e-3 3.805e-3 Severe congenital neutropenia Specific granule deficiency 1 1 SMARCD2 (5) 0.04167 0.50000 2.856e-3 3.805e-3 Sweat gland disease Synovitis, acne, pustulosis, hyperostosis, and osteitis 1 0 TCERG1L (1) 0.04167 0.50000 2.856e-3 3.805e-3 Horizontal gaze palsy with progressive scoliosis Keratitis 1 1 DCC (2) 0.04167 0.50000 2.856e-3 3.805e-3 Intestinal polyposis Keratitis 1 1 STK11 (3) 0.04167 0.50000 2.856e-3 3.805e-3 Iron metabolism disorder Iron-refractory iron deficiency anemia 1 1 TMPRSS6 (5) 0.04167 0.50000 2.856e-3 3.805e-3 Gastritis Keratosis palmoplantaris papulosa 1 1 COL14A1 (2) 0.04167 0.50000 2.856e-3 3.805e-3 1 Dysarthria Ophthalmoplegia 1 1 NPC1 (2) 0.04167 0.50000 2.856e-3 3.805e-3 Factor viii deficiency Venous thrombosis 1 1 F8 (2) 0.04167 0.50000 2.856e-3 3.805e-3 Erythematosquamous dermatosis Primary cutaneous anaplastic large cell lymphoma 1 1 TYK2 (2) 0.04167 0.50000 2.856e-3 3.805e-3 Keratitis Thyroid hormone resistance 1 1 TRHR (3) 0.04167 0.50000 2.856e-3 3.805e-3 Severe congenital neutropenia Whim syndrome 1 1 CXCR2 (6) 0.04167 0.50000 2.856e-3 3.805e-3 Severe congenital neutropenia Wiskott-aldrich syndrome 1 1 WAS (7) 0.04167 0.50000 2.856e-3 3.805e-3 Centronuclear myopathy X-linked myotubular myopathy 1 1 MTM1 (4) 0.04167 0.50000 2.856e-3 3.805e-3 Combined immunodeficiency disease t-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 1 FOXN1 (3) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease TFRC-related combined immunodeficiency 1 1 TFRC (3) 0.02222 1.00000 2.858e-3 3.805e-3 Macular dystrophy TOPORS-related retinopathy 1 1 TOPORS (2) 0.02222 1.00000 2.858e-3 3.805e-3 Macular dystrophy TTC8-related ciliopathy 1 1 TTC8 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Usher syndrome Usher syndrome type 2D 1 1 WHRN (6) 0.02222 1.00000 2.858e-3 3.805e-3 Usher syndrome Usher syndrome type 3 1 1 CLRN1 (7) 0.02222 1.00000 2.858e-3 3.805e-3 Dystonia VPS11-related neurological disorder 1 1 VPS11 (4) 0.02222 1.00000 2.858e-3 3.805e-3 Usher syndrome X-linked dominant chondrodysplasia chassaing-lacombe type 1 1 HDAC6 (4) 0.02222 1.00000 2.858e-3 3.805e-3 Dystonia X-linked dystonia-parkinsonism 1 1 TAF1 (6) 0.02222 1.00000 2.858e-3 3.805e-3 172 Macular dystrophy X-linked retinitis pigmentosa 1 0 RP2 (1) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease immunodeficiency 15a 1 1 IKBKB (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease immunodeficiency 53 1 1 RELB (2) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease immunodeficiency 76 1 1 FCHO1 (3) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease immunodeficiency 92 1 1 REL (2) 0.02222 1.00000 2.858e-3 3.805e-3 IMPG1-related dominant retinopathy Macular dystrophy 1 1 IMPG1 (4) 0.02222 1.00000 2.858e-3 3.805e-3 IMPG1-related recessive retinopathy Macular dystrophy 1 1 IMPG1 (4) 0.02222 1.00000 2.858e-3 3.805e-3 IMPG2-related recessive retinopathy Macular dystrophy 1 1 IMPG2 (3) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease Intellectual developmental disorder dysmorphic skeletal hair 1 1 BCL11B (2) 0.02222 1.00000 2.858e-3 3.805e-3 Intellectual developmental disorder microcephaly ocular Salivary gland neoplasms 1 1 SOX11 (4) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease Intellectual developmental disorder speech dysmorphic t-cell 1 1 BCL11B (5) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease Interleukin 6 quantitative trait 1 1 IL6R (4) 0.02222 1.00000 2.858e-3 3.805e-3 Macular dystrophy RDH12-related dominant retinopathy 1 1 RDH12 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Macular dystrophy RDH12-related recessive retinopathy 1 1 RDH12 (2) 0.02222 1.00000 2.858e-3 3.805e-3 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss Usher syndrome 1 1 ATP6V1B1 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Macular dystrophy retinitis pigmentosa 65 1 1 CDHR1 (2) 0.02222 1.00000 2.858e-3 3.805e-3 7 Macular dystrophy RP2-related retinopathy 1 1 RP2 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease severe combined immunodeficiency due to CARMIL2 deficiency 1 1 CARMIL2 (2) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease severe combined immunodeficiency due to CD70 deficiency 1 1 CD70 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease severe combined immunodeficiency due to CTPS1 deficiency 1 1 CTPS1 (2) 0.02222 1.00000 2.858e-3 3.805e-3 10 Ehlers-danlos syndrome severe combined immunodeficiency due to DCLRE1C deficiency 1 1 DCLRE1C (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease severe combined immunodeficiency due to IKK2 deficiency 1 1 IKBKB (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease severe combined immunodeficiency due to LCK deficiency 1 1 LCK (2) 0.02222 1.00000 2.858e-3 3.805e-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 3.805e-3 Dystonia Sterol carrier protein 2 deficiency 1 1 SCP2 (5) 0.02222 1.00000 2.858e-3 3.805e-3 Dystonia succinic semialdehyde dehydrogenase deficiency 1 1 ALDH5A1 (3) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease HELIOS deficiency 1 1 IKZF2 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease hyper-IgE recurrent infection syndrome 5, autosomal recessive 1 1 IL6R (3) 0.02222 1.00000 2.858e-3 3.805e-3 Salivary gland neoplasms Zhu-tokita-takenouchi-kim syndrome 1 1 SON (6) 0.02222 1.00000 2.858e-3 3.805e-3 PDE6A-related retinopathy Usher syndrome 1 1 PDE6A (2) 0.02222 1.00000 2.858e-3 3.805e-3 31 perrault syndrome 2 Usher syndrome 1 1 HARS2 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 1 1 ARPC1B (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease lymphoproliferative syndrome 1 1 1 ITK (2) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease lymphoproliferative syndrome 2 1 1 CD27 (3) 0.02222 1.00000 2.858e-3 3.805e-3 macular corneal dystrophy Macular dystrophy 1 1 CHST6 (4) 0.02222 1.00000 2.858e-3 3.805e-3 7 megalencephalic leukoencephalopathy with subcortical cysts 1 Salivary gland neoplasms 1 1 MLC1 (2) 0.02222 1.00000 2.858e-3 3.805e-3 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Usher syndrome 1 1 KIF11 (2) 0.02222 1.00000 2.858e-3 3.805e-3 exostoses, multiple, type 1 Partial epilepsy 1 1 EXT1 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Fanconi anemia complementation group A Salivary gland neoplasms 1 1 FANCA (2) 0.02222 1.00000 2.858e-3 3.805e-3 Dystonia Focal dystonia 1 1 GNAL (6) 0.02222 1.00000 2.858e-3 3.805e-3 172 Cranio-cervical dystonia Dystonia 1 1 ANO3 (6) 0.02222 1.00000 2.858e-3 3.805e-3 Deafness dystonia syndrome Dystonia 1 1 TIMM8A (3) 0.02222 1.00000 2.858e-3 3.805e-3 CERKL-related retinopathy Macular dystrophy 1 1 CERKL (2) 0.02222 1.00000 2.858e-3 3.805e-3 7 Cervical dystonia Dystonia 1 1 CIZ1 (3) 0.02222 1.00000 2.858e-3 3.805e-3 172 Cirrhosis dystonia polycythemia hypermanganesemia syndrome Dystonia 1 1 SLC30A10 (3) 0.02222 1.00000 2.858e-3 3.805e-3 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Dystonia 1 1 SLC30A10 (3) 0.02222 1.00000 2.858e-3 3.805e-3 CNGA1-related retinopathy Macular dystrophy 1 1 CNGA1 (2) 0.02222 1.00000 2.858e-3 3.805e-3 7 CNGA3-related retinopathy Macular dystrophy 1 1 CNGA3 (2) 0.02222 1.00000 2.858e-3 3.805e-3 CNGB3-related retinopathy Macular dystrophy 1 1 CNGB3 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Diffuse gastric and lobular breast cancer syndrome Macular dystrophy 1 1 CTNNA1 (4) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease Dock2 deficiency 1 1 DOCK2 (5) 0.02222 1.00000 2.858e-3 3.805e-3 Ehlers-danlos syndrome ehlers-danlos syndrome, musculocontractural type 1 1 1 CHST14 (6) 0.02222 1.00000 2.858e-3 3.805e-3 Ehlers-danlos syndrome ehlers-danlos syndrome, musculocontractural type 2 1 1 DSE (5) 0.02222 1.00000 2.858e-3 3.805e-3 50 Ehlers-danlos syndrome Ehlers-Danlos syndrome, spondylocheirodysplastic type 1 1 SLC39A13 (5) 0.02222 1.00000 2.858e-3 3.805e-3 Ehlers-danlos syndrome ehlers-danlos syndrome, spondylodysplastic type, 1 1 1 B4GALT7 (6) 0.02222 1.00000 2.858e-3 3.805e-3 Atrial myxoma Usher syndrome 1 1 PRKAR1A (4) 0.02222 1.00000 2.858e-3 3.805e-3 autosomal dominant combined immunodeficiency due to ERBIN deficiency Combined immunodeficiency disease 1 1 ERBIN (4) 0.02222 1.00000 2.858e-3 3.805e-3 10 Axonal neuropathy Partial epilepsy 1 0 GBF1 (1) 0.02222 1.00000 2.858e-3 3.805e-3 B3GALT6-congenital disorder of glycosylation Ehlers-danlos syndrome 1 1 B3GALT6 (5) 0.02222 1.00000 2.858e-3 3.805e-3 BBS1-related ciliopathy Usher syndrome 1 1 BBS1 (2) 0.02222 1.00000 2.858e-3 3.805e-3 Benign concentric annular macular dystrophy Macular dystrophy 1 1 IMPG1 (5) 0.02222 1.00000 2.858e-3 3.805e-3 Colonic disease Pituitary dwarfism 1 0 GHR (1) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease combined immunodeficiency due to CD3gamma deficiency 1 1 CD3G (5) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease combined immunodeficiency due to DOCK8 deficiency 1 1 DOCK8 (5) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease combined immunodeficiency due to GINS1 deficiency 1 1 GINS1 (5) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease combined immunodeficiency due to LRBA deficiency 1 1 LRBA (3) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease combined immunodeficiency due to MALT1 deficiency 1 1 MALT1 (4) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease combined immunodeficiency due to moesin deficiency 1 1 MSN (5) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease combined immunodeficiency due to OX40 deficiency 1 1 TNFRSF4 (5) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease combined immunodeficiency due to STIM1 deficiency 1 1 STIM1 (4) 0.02222 1.00000 2.858e-3 3.805e-3 Combined immunodeficiency disease combined immunodeficiency due to STK4 deficiency 1 1 STK4 (5) 0.02222 1.00000 2.858e-3 3.805e-3 10 Combined immunodeficiency disease combined immunodeficiency due to ZAP70 deficiency 1 1 ZAP70 (5) 0.02222 1.00000 2.858e-3 3.805e-3 complex movement disorder with or without neurodevelopmental features Dystonia 1 1 HPCA (4) 0.02222 1.00000 2.858e-3 3.805e-3 172 cone dystrophy 3 Macular dystrophy 1 1 GUCA1A (2) 0.02222 1.00000 2.858e-3 3.805e-3 cone dystrophy 3 Usher syndrome 1 1 GUCA1A (2) 0.02222 1.00000 2.858e-3 3.805e-3 cone-rod dystrophy 2 Macular dystrophy 1 1 CRX (2) 0.02222 1.00000 2.858e-3 3.805e-3 7 cone-rod dystrophy 2 Usher syndrome 1 1 CRX (2) 0.02222 1.00000 2.858e-3 3.805e-3 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Ehlers-danlos syndrome 1 1 CYP21A2 (4) 0.02222 1.00000 2.858e-3 3.805e-3 Congenital microtia Dystonia 1 1 PRKRA (6) 0.02222 1.00000 2.858e-3 3.805e-3 Cerebellar cortical atrophy Nystagmus 1 0 MYO5A (1) 0.02273 1.00000 2.793e-3 3.747e-3 CNGB3-related retinopathy Nystagmus 1 1 CNGB3 (2) 0.02273 1.00000 2.793e-3 3.747e-3 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Leukemia 1 1 PPP1R13L (2) 0.02273 1.00000 2.793e-3 3.747e-3 ATF6-related retinopathy Nystagmus 1 1 ATF6 (2) 0.02273 1.00000 2.793e-3 3.747e-3 Boudin-mortier syndrome Marfan syndrome 1 1 NPR3 (5) 0.02273 1.00000 2.793e-3 3.747e-3 50 Dna ligase iv deficiency Nasopharyngeal neoplasms 1 1 LIG4 (4) 0.02273 1.00000 2.793e-3 3.747e-3 Early-onset obesity-hyperphagia-severe developmental delay syndrome Nasopharyngeal neoplasms 1 1 NTRK2 (2) 0.02273 1.00000 2.793e-3 3.747e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Panhypopituitarism 1 1 CHMP2B (2) 0.02273 1.00000 2.793e-3 3.747e-3 GPR143-related foveal hypoplasia Nystagmus 1 1 GPR143 (6) 0.02273 1.00000 2.793e-3 3.747e-3 Hurthle cell thyroid cancer Nystagmus 1 1 NDUFA13 (2) 0.02273 1.00000 2.793e-3 3.747e-3 intellectual disability, autosomal dominant 42 Nystagmus 1 1 GNB1 (2) 0.02273 1.00000 2.793e-3 3.747e-3 Panhypopituitarism Winkelman bethge pfeiffer syndrome 1 1 LHX3 (2) 0.02273 1.00000 2.793e-3 3.747e-3 Nystagmus X-linked intellectual disability-cerebellar hypoplasia syndrome 1 1 OPHN1 (2) 0.02273 1.00000 2.793e-3 3.747e-3 Leukemia SYNCRIP-related neurodevelopmental disorder 1 1 SYNCRIP (2) 0.02273 1.00000 2.793e-3 3.747e-3 89 mucopolysaccharidosis type 3A Nystagmus 1 1 SGSH (2) 0.02273 1.00000 2.793e-3 3.747e-3 Nasopharyngeal neoplasms pyruvate dehydrogenase E3 deficiency 1 1 DLD (2) 0.02273 1.00000 2.793e-3 3.747e-3 Bryant-li-bhoj neurodevelopmental syndrome Intellectual developmental disorder 2 2 H3-3B (4), H3-3A (4) 0.00247 1.00000 2.757e-3 3.703e-3 Carotid atherosclerosis Mandibulofacial dysostosis 1 1 EDNRA (6) 0.07692 0.16667 2.725e-3 3.664e-3 Cafe-au-lait spots Corticobasal degeneration 1 1 SOS1 (2) 0.07692 0.16667 2.725e-3 3.664e-3 Eyelid disease Peritonitis 1 1 IFNG (2) 0.07692 0.16667 2.725e-3 3.664e-3 Peritonitis Tuberous sclerosis complex 1 1 IFNG (4) 0.07692 0.16667 2.725e-3 3.664e-3 Cold paroxysmal hemoglobinuria Peritonitis 1 1 C5 (2) 0.07692 0.16667 2.725e-3 3.664e-3 Cold paroxysmal hemoglobinuria Terminal complement component deficiency 1 0 C5 (1) 0.07692 0.16667 2.725e-3 3.664e-3 Hemoglobinuria paroxysmal Terminal complement component deficiency 1 0 C5 (1) 0.07692 0.16667 2.725e-3 3.664e-3 Congenital hearing disorder hearing loss, autosomal recessive 1 1 SLC22A4 (2) 0.07692 0.16667 2.725e-3 3.664e-3 Absence epilepsy Synovial disorder 1 1 GABRB3 (2) 0.07692 0.16667 2.725e-3 3.664e-3 227 Bicuspid aortic valve Throat disease 1 1 GATA5 (3) 0.05882 0.33333 2.725e-3 3.664e-3 Avascular necrosis of bone Torg-winchester syndrome 1 0 MMP2 (1) 0.05882 0.33333 2.725e-3 3.664e-3 Metabolic bone disorder Torg-winchester syndrome 1 0 MMP2 (1) 0.05882 0.33333 2.725e-3 3.664e-3 Partington syndrome X-linked syndromic complex neurodevelopmental disorder 1 1 AP1S2 (2) 0.05882 0.33333 2.725e-3 3.664e-3 Bouillaud’s disease Fatigue syndrome 1 0 HLA-DQA1 (1) 0.05882 0.33333 2.725e-3 3.664e-3 Coronary restenosis Leukocyte adhesion deficiency 1 1 ITGB2 (6) 0.05882 0.33333 2.725e-3 3.664e-3 Male infertility y chromosome microdeletion Spermatogenic failure, y-linked 1 1 USP9Y (4) 0.05882 0.33333 2.725e-3 3.664e-3 Lymphoproliferative syndrome MHC class I deficiency 1 1 TAP2 (2) 0.05882 0.33333 2.725e-3 3.664e-3 Cleft palate and bilateral cleft lip Mitochondrial encephalopathy 1 0 COX3 (1) 0.05882 0.33333 2.725e-3 3.664e-3 Crisponi syndrome Esophageal ulcer 1 1 CRLF1 (5) 0.05882 0.33333 2.725e-3 3.664e-3 Bile acid malabsorption Intestinal disease 1 1 SLC10A2 (5) 0.05882 0.33333 2.725e-3 3.664e-3 Cold-induced sweating syndrome Esophageal ulcer 1 1 CRLF1 (5) 0.05882 0.33333 2.725e-3 3.664e-3 Congenital bone marrow failure syndrome Pancytopenia 1 1 ERCC6L2 (5) 0.05882 0.33333 2.725e-3 3.664e-3 Cerebral artery occlusion Hyperemia 1 1 ADCYAP1 (3) 0.05882 0.33333 2.725e-3 3.664e-3 Beta thalassemia Chorioretinal atrophy 1 0 - (1) 0.04348 0.50000 2.726e-3 3.664e-3 Cardiofacial dysplasia Cushing syndrome 1 1 PRKACB (5) 0.04348 0.50000 2.726e-3 3.664e-3 Acrodysostosis Cushing syndrome 1 1 PRKAR1A (3) 0.04348 0.50000 2.726e-3 3.664e-3 Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome Intracerebral hemorrhage 1 1 DPH1 (4) 0.04348 0.50000 2.726e-3 3.664e-3 Developmental delay with short stature and dysmorphic facial features Intracerebral hemorrhage 1 1 DPH1 (6) 0.04348 0.50000 2.726e-3 3.664e-3 Bladder exstrophy Vitreous body disease 1 0 NCKAP5 (1) 0.04348 0.50000 2.726e-3 3.664e-3 Hemorrhagic disease qualitative platelet defect 1 1 TBXA2R (3) 0.04348 0.50000 2.726e-3 3.664e-3 Ataxia Ophthalmoplegia 1 1 NPC1 (2) 0.04348 0.50000 2.726e-3 3.664e-3 Ataxia Parkinsonian-pyramidal syndrome 1 1 SNCA (2) 0.04348 0.50000 2.726e-3 3.664e-3 Proteinuria pseudohypoaldosteronism, type IB1, autosomal recessive 1 1 SCNN1A (2) 0.02326 1.00000 2.728e-3 3.664e-3 Brain disease neurodegenerative syndrome due to cerebral folate transport deficiency 1 1 FOLR1 (3) 0.02326 1.00000 2.728e-3 3.664e-3 Jeune syndrome NIK deficiency 1 1 MAP3K14 (2) 0.02326 1.00000 2.728e-3 3.664e-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 3.664e-3 Brain disease ornithine carbamoyltransferase deficiency 1 1 OTC (3) 0.02326 1.00000 2.728e-3 3.664e-3 Hypospadias Rhizomelic limb shortening with dysmorphic features 1 1 PKDCC (5) 0.02326 1.00000 2.728e-3 3.664e-3 23 Right hypoplastic heart syndrome Ventricular septal defect 1 0 TBX20 (1) 0.02326 1.00000 2.728e-3 3.664e-3 41 Say meyer syndrome Ventricular septal defect 1 0 HUWE1 (1) 0.02326 1.00000 2.728e-3 3.664e-3 Hypospadias schuurs-hoeijmakers syndrome 1 1 PACS1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 23 Jeune syndrome short-rib thoracic dysplasia 11 with or without polydactyly 1 1 DYNC2I2 (4) 0.02326 1.00000 2.728e-3 3.664e-3 19 Jeune syndrome short-rib thoracic dysplasia 16 with or without polydactyly 1 1 IFT52 (2) 0.02326 1.00000 2.728e-3 3.664e-3 19 Jeune syndrome short-rib thoracic dysplasia 17 with or without polydactyly 1 1 DYNLT2B (2) 0.02326 1.00000 2.728e-3 3.664e-3 19 Brain disease succinic semialdehyde dehydrogenase deficiency 1 1 ALDH5A1 (3) 0.02326 1.00000 2.728e-3 3.664e-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 3.664e-3 133 Laryngeal hypoplasia Ventricular septal defect 1 0 FOXP4 (1) 0.02326 1.00000 2.728e-3 3.664e-3 Lupus nephritis Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 1 1 STAT1 (3) 0.02326 1.00000 2.728e-3 3.664e-3 mucopolysaccharidosis type 7 Proteinuria 1 1 GUSB (2) 0.02326 1.00000 2.728e-3 3.664e-3 Chronic obstructive pulmonary disease Winchester syndrome 1 1 MMP14 (5) 0.02326 1.00000 2.728e-3 3.664e-3 Proteinuria X-linked nephrolithiasis 1 1 CLCN5 (4) 0.02326 1.00000 2.728e-3 3.664e-3 Brain disease Xerosis with immune and pulmonary dysfunction syndrome 1 1 DBR1 (4) 0.02326 1.00000 2.728e-3 3.664e-3 Brain disease Xgip syndrome 1 0 DBR1 (1) 0.02326 1.00000 2.728e-3 3.664e-3 Hypospadias idiopathic multidrug-resistant nephrotic syndrome 1 1 DAAM2 (2) 0.02326 1.00000 2.728e-3 3.664e-3 immunodeficiency 31b Lupus nephritis 1 1 STAT1 (3) 0.02326 1.00000 2.728e-3 3.664e-3 KIZ-related retinopathy Lupus nephritis 1 1 KIZ (2) 0.02326 1.00000 2.728e-3 3.664e-3 1 Erythrocyte lactate transporter defect Hyperinsulinism 1 1 SLC16A1 (3) 0.02326 1.00000 2.728e-3 3.664e-3 Fanconi anemia complementation group A Hyperinsulinism 1 1 FANCA (3) 0.02326 1.00000 2.728e-3 3.664e-3 Fatty acid and ketone body metabolism disorder Hyperinsulinism 1 1 SLC16A1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 Fatty acid oxidation and ketone body metabolism disorder Hyperinsulinism 1 0 SLC16A1 (1) 0.02326 1.00000 2.728e-3 3.664e-3 Brain disease frontotemporal dementia and/or amyotrophic lateral sclerosis 4 1 1 TBK1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 Hereditary c1 esterase inhibitor deficiency Lupus nephritis 1 1 SERPING1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 hereditary mixed polyposis syndrome Hypospadias 1 1 GREM1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 holt-oram syndrome Ventricular septal defect 1 1 TBX5 (2) 0.02326 1.00000 2.728e-3 3.664e-3 Hyperinsulinism Hyperinsulinism-hyperammonemia syndrome 1 1 GLUD1 (6) 0.02326 1.00000 2.728e-3 3.664e-3 35 Hyperinsulinism Hyperthermia 1 1 GPX1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 dilated cardiomyopathy 1V Jeune syndrome 1 1 PSEN2 (3) 0.02326 1.00000 2.728e-3 3.664e-3 19 3-hydroxyacyl-coa dehydrogenase deficiency Hyperinsulinism 1 1 HADH (6) 0.02326 1.00000 2.728e-3 3.664e-3 Abetalipoproteinemia Hyperinsulinism 1 1 MTTP (2) 0.02326 1.00000 2.728e-3 3.664e-3 35 Adenosine kinase deficiency Hypospadias 1 1 ADK (3) 0.02326 1.00000 2.728e-3 3.664e-3 Alveolar capillary dysplasia Ventricular septal defect 1 1 FOXF1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 Anus neoplasms Brain disease 1 1 IFNB1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 coffin-lowry syndrome Ventricular septal defect 1 1 RPS6KA3 (2) 0.02326 1.00000 2.728e-3 3.664e-3 Breast/nipple aplasia or hypoplasia Hyperinsulinism 1 1 PTPRF (5) 0.02326 1.00000 2.728e-3 3.664e-3 Congenital absence of breast with absent nipple Hyperinsulinism 1 0 PTPRF (1) 0.02326 1.00000 2.728e-3 3.664e-3 Congenital alveolar capillary dysplasia Ventricular septal defect 1 1 FOXF1 (2) 0.02326 1.00000 2.728e-3 3.664e-3 Brain disease Congenital brain dysgenesis due to glutamine synthetase deficiency 1 1 GLUL (6) 0.02326 1.00000 2.728e-3 3.664e-3 Autoimmune enteropathy and endocrinopathy Lupus nephritis 1 1 STAT1 (5) 0.02326 1.00000 2.728e-3 3.664e-3 Autoinflammation with arthritis and vasculitis Brain disease 1 1 TBK1 (4) 0.02326 1.00000 2.728e-3 3.664e-3 Autoinflammation, immune dysregulation, and eosinophilia Lupus nephritis 1 1 JAK1 (5) 0.02326 1.00000 2.728e-3 3.664e-3 ectodermal dysplasia WNT10A related Tooth agenesis 1 1 WNT10A (8) 0.02381 1.00000 2.663e-3 3.595e-3 amyotrophic lateral sclerosis type 10 Neurodegenerative disorder 1 1 TARDBP (3) 0.02381 1.00000 2.663e-3 3.595e-3 Anhidrotic ectodermal dysplasia Tooth agenesis 1 1 EDA (6) 0.02381 1.00000 2.663e-3 3.595e-3 76 aortic valve disease 3 Thoracic aortic aneurysm and aortic dissection 1 1 ROBO4 (2) 0.02381 1.00000 2.663e-3 3.595e-3 Arteriosclerosis Corneal injury 1 1 ALDH3A1 (2) 0.02381 1.00000 2.663e-3 3.595e-3 57 craniofacial dysplasia - osteopenia syndrome Tooth agenesis 1 1 IRX5 (4) 0.02381 1.00000 2.663e-3 3.595e-3 craniosynostosis 2 Tooth agenesis 1 1 MSX2 (2) 0.02381 1.00000 2.663e-3 3.595e-3 Bullous pyoderma gangrenosum Heart valve disease 1 1 PTPN6 (3) 0.02381 1.00000 2.663e-3 3.595e-3 T-cell immunodeficiency Tooth agenesis 1 1 FOXI3 (2) 0.02381 1.00000 2.663e-3 3.595e-3 Tooth agenesis tooth agenesis, selective, 3 1 1 PAX9 (6) 0.02381 1.00000 2.663e-3 3.595e-3 76 Tooth agenesis tooth agenesis, selective, 9 1 1 GREM2 (5) 0.02381 1.00000 2.663e-3 3.595e-3 76 Heart valve disease Vitamin k deficiency 1 1 BGLAP (2) 0.02381 1.00000 2.663e-3 3.595e-3 391 Neurodegenerative disorder Regressive neurodevelopmental disorder dystonia seizures 1 1 IRF2BPL (3) 0.02381 1.00000 2.663e-3 3.595e-3 Schopf-schulz-passarge syndrome Tooth agenesis 1 1 WNT10A (7) 0.02381 1.00000 2.663e-3 3.595e-3 Neurodegenerative disorder Striatal neurodegeneration 1 1 PDE8B (5) 0.02381 1.00000 2.663e-3 3.595e-3 Neurodegenerative disorder Pantothenate kinase-associated neurodegeneration 1 1 PANK2 (4) 0.02381 1.00000 2.663e-3 3.595e-3 Periodic paralysis with transient compartment-like syndrome Tooth agenesis 1 1 CACNA1S (3) 0.02381 1.00000 2.663e-3 3.595e-3 Heart valve disease Pyoderma gangrenosum 1 1 PTPN6 (3) 0.02381 1.00000 2.663e-3 3.595e-3 neurodegenerative disease Neurodegenerative disorder 1 1 IRF2BPL (2) 0.02381 1.00000 2.663e-3 3.595e-3 oligodontia-cancer predisposition syndrome Tooth agenesis 1 1 AXIN2 (3) 0.02381 1.00000 2.663e-3 3.595e-3 Heart valve disease lissencephaly 10 1 1 CEP85L (2) 0.02381 1.00000 2.663e-3 3.595e-3 Congenital hemivertebra Spondylocostal dysostosis 1 1 DLL3 (5) 0.07692 0.20000 2.595e-3 3.512e-3 Frontotemporal dementia with motor neuron disease Paget disease 1 1 SQSTM1 (5) 0.07692 0.20000 2.595e-3 3.512e-3 Congenital hemivertebra Jarcho-levin syndrome 1 0 DLL3 (1) 0.07692 0.20000 2.595e-3 3.512e-3 Alcoholic hepatitis Chondromalacia 1 1 SULT1E1 (2) 0.07692 0.20000 2.595e-3 3.512e-3 43 Autoimmune nervous system disorder Peritoneal neoplasms 1 1 MCAM (2) 0.07143 0.25000 2.595e-3 3.512e-3 86 Coronary syndrome Endometrial hyperplasia 1 1 CELSR2 (3) 0.07143 0.25000 2.595e-3 3.512e-3 Common migraine Coronary syndrome 1 1 PHACTR1 (2) 0.07143 0.25000 2.595e-3 3.512e-3 Antisocial personality disorder Congenital dyserythropoietic anemia 1 0 ABCB1 (1) 0.07143 0.25000 2.595e-3 3.512e-3 120 Brain edema Congenital mirror movements 1 1 NTN1 (3) 0.07143 0.25000 2.595e-3 3.512e-3 Ap-4 deficiency syndrome Brain atrophy 1 1 AP4M1 (3) 0.07143 0.25000 2.595e-3 3.512e-3 Ap4-related intellectual disability and spastic paraplegia Brain atrophy 1 1 AP4M1 (2) 0.07143 0.25000 2.595e-3 3.512e-3 Congenital dyserythropoietic anemia Tyrosinemia 1 0 GCDH (1) 0.07143 0.25000 2.595e-3 3.512e-3 monogenic diabetes Wallerian degeneration 1 1 SIRT1 (2) 0.07143 0.25000 2.595e-3 3.512e-3 Porphyria X-linked sideroblastic anemia 1 1 ALAS2 (5) 0.07143 0.25000 2.595e-3 3.512e-3 Laryngeal carcinoma Male reproductive system disease 1 0 WNT7B (1) 0.07143 0.25000 2.595e-3 3.512e-3 Contracture Male reproductive system disease 1 0 WNT7B (1) 0.07143 0.25000 2.595e-3 3.512e-3 Brain edema Mirror movements 1 1 NTN1 (4) 0.07143 0.25000 2.595e-3 3.512e-3 Urethral syndrome Visual disorder 1 0 MAGI2 (1) 0.04545 0.50000 2.596e-3 3.512e-3 Congenital diaphragmatic hernia Witteveen-kolk syndrome 1 1 SIN3A (4) 0.04545 0.50000 2.596e-3 3.512e-3 362 Platelet-type bleeding disorder qualitative platelet defect 1 1 TBXA2R (5) 0.04545 0.50000 2.596e-3 3.512e-3 Growth hormone insensitivity syndrome Splenomegaly 1 1 STAT5B (3) 0.04545 0.50000 2.596e-3 3.512e-3 Growth hormone insensitivity syndrome with immune dysregulation Splenomegaly 1 1 STAT5B (5) 0.04545 0.50000 2.596e-3 3.512e-3 Hereditary folate malabsorption Visual disorder 1 1 SARM1 (2) 0.04545 0.50000 2.596e-3 3.512e-3 Dandy-walker syndrome Noonan syndrome-like disorder with loose anagen hair 1 1 PPP1CB (2) 0.04545 0.50000 2.596e-3 3.512e-3 immunodeficiency 104 Upper respiratory tract disorder 1 1 IL7R (2) 0.04545 0.50000 2.596e-3 3.512e-3 103 Aortic atherosclerosis Hypertensive nephropathy 1 0 NYAP2 (1) 0.04545 0.50000 2.596e-3 3.512e-3 Dandy-walker syndrome Developmental delay with short stature and dysmorphic facial features 1 1 DPH1 (7) 0.04545 0.50000 2.596e-3 3.512e-3 Bulimia Dysphonia 1 0 COMT (1) 0.04545 0.50000 2.596e-3 3.512e-3 181 Congenital cataract microcornea with corneal opacity Visual disorder 1 1 PXDN (3) 0.04545 0.50000 2.596e-3 3.512e-3 Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome Dandy-walker syndrome 1 1 DPH1 (3) 0.04545 0.50000 2.596e-3 3.512e-3 congenital myasthenic syndrome 12 Myasthenic syndrome 1 1 GFPT1 (4) 0.02439 1.00000 2.598e-3 3.512e-3 5 congenital myasthenic syndrome 2A Myasthenic syndrome 1 1 CHRNB1 (4) 0.02439 1.00000 2.598e-3 3.512e-3 congenital myasthenic syndrome 2C Myasthenic syndrome 1 1 CHRNB1 (4) 0.02439 1.00000 2.598e-3 3.512e-3 congenital myasthenic syndrome 6 Myasthenic syndrome 1 1 CHAT (3) 0.02439 1.00000 2.598e-3 3.512e-3 5 congenital myasthenic syndrome 7 Myasthenic syndrome 1 1 SYT2 (6) 0.02439 1.00000 2.598e-3 3.512e-3 5 congenital myasthenic syndrome 8 Myasthenic syndrome 1 1 AGRN (4) 0.02439 1.00000 2.598e-3 3.512e-3 5 Congenital thrombotic disease Generalized anxiety disorder 1 1 SI (2) 0.02439 1.00000 2.598e-3 3.512e-3 75 Developmental delay with hypotonia, myopathy, and brain abnormalities Neuromuscular disease 1 1 GOLGA2 (3) 0.02439 1.00000 2.598e-3 3.512e-3 131 Diffuse gastric and lobular breast cancer syndrome Generalized anxiety disorder 1 1 CTNNA1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 DPAGT1-congenital disorder of glycosylation Myasthenic syndrome 1 1 DPAGT1 (4) 0.02439 1.00000 2.598e-3 3.512e-3 CEP164-related ciliopathy Nephronophthisis 1 1 CEP164 (5) 0.02439 1.00000 2.598e-3 3.512e-3 8 Cervicitis Kidney neoplasms 1 1 IL32 (2) 0.02439 1.00000 2.598e-3 3.512e-3 214 Charcot-Marie-tooth disease, axonal, type 2DD Neuromuscular disease 1 1 ATP1A1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Bladder calculus Cirrhosis dystonia polycythemia hypermanganesemia syndrome 1 1 SLC30A10 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Bladder calculus Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 1 1 SLC30A10 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Cleft lip/palate with abnormal thumbs and microcephaly Kidney neoplasms 1 1 ESCO2 (2) 0.02439 1.00000 2.598e-3 3.512e-3 17q21.31 microdeletion syndrome Bladder calculus 1 1 KANSL1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 ALG2-congenital disorder of glycosylation Myasthenic syndrome 1 1 ALG2 (4) 0.02439 1.00000 2.598e-3 3.512e-3 5 amyotrophic lateral sclerosis type 10 Degenerative disorder 1 1 TARDBP (2) 0.02439 1.00000 2.598e-3 3.512e-3 amyotrophic lateral sclerosis type 6 Degenerative disorder 1 1 FUS (2) 0.02439 1.00000 2.598e-3 3.512e-3 Apolipoprotein a-ii amyloidosis Hyperlipoproteinemia 1 1 APOA2 (3) 0.02439 1.00000 2.598e-3 3.512e-3 Apolipoprotein a-ii deficiency Hyperlipoproteinemia 1 1 APOA2 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Apolipoprotein a5 deficiency Hyperlipoproteinemia 1 1 APOA5 (6) 0.02439 1.00000 2.598e-3 3.512e-3 57 Apolipoprotein c-ii deficiency Hyperlipoproteinemia 1 1 APOC2 (6) 0.02439 1.00000 2.598e-3 3.512e-3 Apolipoprotein c-iii deficiency Hyperlipoproteinemia 1 1 APOC3 (4) 0.02439 1.00000 2.598e-3 3.512e-3 Colonic disease Hyperlipoproteinemia 1 0 GHR (1) 0.02439 1.00000 2.598e-3 3.512e-3 Argininosuccinic aciduria Myasthenic syndrome 1 1 ASL (7) 0.02439 1.00000 2.598e-3 3.512e-3 bardet-biedl syndrome 16 Nephronophthisis 1 1 SDCCAG8 (2) 0.02439 1.00000 2.598e-3 3.512e-3 8 BBS9-related ciliopathy Nephronophthisis 1 1 BBS9 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Bjornstad syndrome Neuromuscular disease 1 1 BCS1L (6) 0.02439 1.00000 2.598e-3 3.512e-3 131 Borderline personality disorder Kidney neoplasms 1 1 TPH1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 214 Cardiac and skeletal myopathy Neuromuscular disease 1 1 ACTN2 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Carnitine deficiency Myasthenic syndrome 1 1 SLC22A5 (2) 0.02439 1.00000 2.598e-3 3.512e-3 immunodeficiency 109 with lymphoproliferation Kidney neoplasms 1 1 TNFRSF9 (2) 0.02439 1.00000 2.598e-3 3.512e-3 214 Bladder calculus inherited pseudoxanthoma elasticum 1 1 ABCC6 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Intellectual developmental disorder seizures behavioral Myasthenic syndrome 1 1 ALG14 (4) 0.02439 1.00000 2.598e-3 3.512e-3 5 INTU-related skeletal ciliopathy Nephronophthisis 1 1 INTU (2) 0.02439 1.00000 2.598e-3 3.512e-3 kidney disorder Nephronophthisis 1 1 SLC41A1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Bladder calculus koolen-de vries syndrome 1 1 KANSL1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 Nephronophthisis nephronophthisis 1 1 1 NPHP1 (6) 0.02439 1.00000 2.598e-3 3.512e-3 8 Nephronophthisis nephronophthisis 12 1 1 TTC21B (5) 0.02439 1.00000 2.598e-3 3.512e-3 Nephronophthisis nephronophthisis 16 1 1 ANKS6 (7) 0.02439 1.00000 2.598e-3 3.512e-3 Nephronophthisis nephronophthisis 2 1 1 INVS (6) 0.02439 1.00000 2.598e-3 3.512e-3 8 Nephronophthisis nephronophthisis 20 1 1 MAPKBP1 (6) 0.02439 1.00000 2.598e-3 3.512e-3 8 Nephronophthisis nephronophthisis 4 1 1 NPHP4 (7) 0.02439 1.00000 2.598e-3 3.512e-3 8 Nephronophthisis nephronophthisis 7 1 1 GLIS2 (6) 0.02439 1.00000 2.598e-3 3.512e-3 8 nephrotic syndrome 14 Uveal melanoma 1 1 SGPL1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 263 Interstitial cystitis neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 1 1 VARS1 (2) 0.02439 1.00000 2.598e-3 3.512e-3 1 Myasthenic syndrome neuronopathy, distal hereditary motor, type 7A 1 1 SLC5A7 (4) 0.02439 1.00000 2.598e-3 3.512e-3 5 Nephronophthisis renal-hepatic-pancreatic dysplasia 2 1 1 NEK8 (6) 0.02439 1.00000 2.598e-3 3.512e-3 Kidney neoplasms Roberts syndrome 1 1 ESCO2 (3) 0.02439 1.00000 2.598e-3 3.512e-3 Kidney neoplasms Roberts-sc phocomelia syndrome 1 1 ESCO2 (5) 0.02439 1.00000 2.598e-3 3.512e-3 Degenerative disorder Striatal neurodegeneration 1 1 PDE8B (4) 0.02439 1.00000 2.598e-3 3.512e-3 Generalized anxiety disorder leukodystrophy, hypomyelinating, 16 1 1 TMEM106B (2) 0.02439 1.00000 2.598e-3 3.512e-3 MKKS-related ciliopathy Nephronophthisis 1 1 MKKS (2) 0.02439 1.00000 2.598e-3 3.512e-3 8 Myasthenic syndrome Systemic primary carnitine deficiency 1 1 SLC22A5 (4) 0.02439 1.00000 2.598e-3 3.512e-3 Interstitial cystitis Thiopurine immunosuppressant-induced pancreatitis 1 0 HLA-DQB3 (1) 0.02439 1.00000 2.598e-3 3.512e-3 1 Generalized anxiety disorder Tolchin-le caignec syndrome 1 1 SOX6 (4) 0.02439 1.00000 2.598e-3 3.512e-3 75 Neuromuscular disease Triose phosphate isomerase deficiency 1 1 TPI1 (6) 0.02439 1.00000 2.598e-3 3.512e-3 Neuromuscular disease Trismus-pseudocamptodactyly syndrome 1 1 MYH8 (3) 0.02439 1.00000 2.598e-3 3.512e-3 Hecht syndrome Neuromuscular disease 1 1 MYH8 (3) 0.02439 1.00000 2.598e-3 3.512e-3 Hepatic lipase deficiency Hyperlipoproteinemia 1 1 LIPC (3) 0.02439 1.00000 2.598e-3 3.512e-3 hypercholesterolemia, autosomal dominant, 3 Hyperlipoproteinemia 1 1 PCSK9 (2) 0.02439 1.00000 2.598e-3 3.512e-3 hypercholesterolemia, familial, 1 Hyperlipoproteinemia 1 1 LDLR (3) 0.02439 1.00000 2.598e-3 3.512e-3 57 hypercholesterolemia, familial, 4 Hyperlipoproteinemia 1 1 LDLRAP1 (3) 0.02439 1.00000 2.598e-3 3.512e-3 57 Hypo-akinesia disorder of prenatal onset Myasthenic syndrome 1 1 CHRNG (4) 0.02439 1.00000 2.598e-3 3.512e-3 Degenerative disorder Pantothenate kinase-associated neurodegeneration 1 1 PANK2 (4) 0.02439 1.00000 2.598e-3 3.512e-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 3.512e-3 Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome Progressive external ophthalmoplegia 1 1 SLC25A4 (3) 0.06250 0.33333 2.531e-3 3.446e-3 Cholesterol ester transfer protein deficiency Malunion fracture 1 1 SCARB1 (2) 0.06250 0.33333 2.531e-3 3.446e-3 Bladder disease Pruritus 1 1 HRH1 (2) 0.06250 0.33333 2.531e-3 3.446e-3 1p36 deletion syndrome Schwartz-jampel syndrome 1 1 HSPG2 (6) 0.06250 0.33333 2.531e-3 3.446e-3 146 1p36 deletion syndrome Shprintzen-goldberg syndrome 1 1 SKI (6) 0.06250 0.33333 2.531e-3 3.446e-3 Congenital respiratory system anomaly Thyroid gland neoplasms 1 1 PDGFRA (2) 0.06250 0.33333 2.531e-3 3.446e-3 Raynaud disease Urethral disease 1 0 ZFHX3 (1) 0.06250 0.33333 2.531e-3 3.446e-3 Hypotonia-cystinuria syndrome Motor skills disorder 1 1 CAMKMT (3) 0.06250 0.33333 2.531e-3 3.446e-3 Constitutional mismatch repair deficiency Intellectual developmental disorder dysmorphic behavioral 1 1 MSH6 (7) 0.06250 0.33333 2.531e-3 3.446e-3 39 Intellectual developmental disorder dysmorphic behavioral Intracranial hemorrhage 1 1 MSH6 (2) 0.06250 0.33333 2.531e-3 3.446e-3 Leukocyte adhesion deficiency Platelet disorder 1 1 FERMT3 (7) 0.06250 0.33333 2.531e-3 3.446e-3 Mitochondrial encephalopathy Neuropathy, ataxia, and retinitis pigmentosa 1 0 COX3 (1) 0.06250 0.33333 2.531e-3 3.446e-3 Hyperalphalipoproteinemia Malunion fracture 1 1 SCARB1 (2) 0.06250 0.33333 2.531e-3 3.446e-3 immunodeficiency 60 Nasal polyp 1 1 BACH2 (2) 0.02500 1.00000 2.533e-3 3.446e-3 isolated sulfite oxidase deficiency Nasal polyp 1 1 SUOX (2) 0.02500 1.00000 2.533e-3 3.446e-3 joubert syndrome 17 Polydactyly 1 1 CPLANE1 (2) 0.02500 1.00000 2.533e-3 3.446e-3 Patterson stevenson fontaine syndrome Polydactyly 1 0 LMBR1 (1) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia RAD51C-related cancer predisposition 1 1 RAD51C (7) 0.02500 1.00000 2.533e-3 3.446e-3 Polydactyly renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 1 1 ATP6V1B1 (2) 0.02500 1.00000 2.533e-3 3.446e-3 Osteogenesis imperfecta Respiratory distress with surfactant metabolism deficiency 1 1 SFTPC (3) 0.02500 1.00000 2.533e-3 3.446e-3 Osteonecrosis Retinitis pigmentosa with or without skeletal anomalies 1 1 CWC27 (2) 0.02500 1.00000 2.533e-3 3.446e-3 316 Osteogenesis imperfecta SFTPC-related interstitial lung disease 1 1 SFTPC (2) 0.02500 1.00000 2.533e-3 3.446e-3 Osteonecrosis skeletal dysplasia, mild, with joint laxity and advanced bone age 1 1 CSGALNACT1 (2) 0.02500 1.00000 2.533e-3 3.446e-3 Polydactyly TTC8-related ciliopathy 1 1 TTC8 (2) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia Vacterl-hydrocephalus syndrome 1 1 FANCB (7) 0.02500 1.00000 2.533e-3 3.446e-3 Osteogenesis imperfecta X-linked osteoporosis 1 1 PLS3 (3) 0.02500 1.00000 2.533e-3 3.446e-3 leber congenital amaurosis 15 Polydactyly 1 1 TULP1 (2) 0.02500 1.00000 2.533e-3 3.446e-3 leukoencephalopathy with vanishing white matter 2 Osteogenesis imperfecta 1 1 EIF2B2 (2) 0.02500 1.00000 2.533e-3 3.446e-3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Polydactyly 1 1 CCND2 (3) 0.02500 1.00000 2.533e-3 3.446e-3 MEGF8-related Carpenter syndrome Polydactyly 1 1 MEGF8 (2) 0.02500 1.00000 2.533e-3 3.446e-3 Metaphyseal chondrodysplasia with retinitis pigmentosa Osteonecrosis 1 1 CWC27 (5) 0.02500 1.00000 2.533e-3 3.446e-3 316 familial ovarian cancer Fanconi anemia 1 1 BRIP1 (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia Fanconi anemia complementation group A 1 1 FANCA (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group b 1 1 FANCB (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia Fanconi anemia complementation group C 1 1 FANCC (8) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group d2 1 1 FANCD2 (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group e 1 1 FANCE (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group f 1 1 FANCF (7) 0.02500 1.00000 2.533e-3 3.446e-3 39 Fanconi anemia fanconi anemia complementation group g 1 1 FANCG (6) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group i 1 1 FANCI (6) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group j 1 1 BRIP1 (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group l 1 1 FANCL (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group o 1 1 RAD51C (7) 0.02500 1.00000 2.533e-3 3.446e-3 Fanconi anemia fanconi anemia complementation group p 1 1 SLX4 (8) 0.02500 1.00000 2.533e-3 3.446e-3 39 Fanconi anemia Fanconi anemia complementation group U 1 1 XRCC2 (7) 0.02500 1.00000 2.533e-3 3.446e-3 39 Frontonasal dysplasia with alopecia and genital anomaly Polydactyly 1 1 ALX4 (6) 0.02500 1.00000 2.533e-3 3.446e-3 Acheiropody Polydactyly 1 1 LMBR1 (2) 0.02500 1.00000 2.533e-3 3.446e-3 Brachydactyly-short stature-retinits pigmentosa syndrome Osteonecrosis 1 1 CWC27 (3) 0.02500 1.00000 2.533e-3 3.446e-3 316 Charcot-Marie-Tooth disease axonal type 2P Peroneal muscle atrophy 1 1 LRSAM1 (2) 0.02500 1.00000 2.533e-3 3.446e-3 13 Charcot-Marie-Tooth disease type 4B3 Peroneal muscle atrophy 1 1 SBF1 (2) 0.02500 1.00000 2.533e-3 3.446e-3 13 BBS10-related ciliopathy Polydactyly 1 1 BBS10 (2) 0.02500 1.00000 2.533e-3 3.446e-3 BBS12-related ciliopathy Polydactyly 1 1 BBS12 (2) 0.02500 1.00000 2.533e-3 3.446e-3 8 Glycogen storage disease Seborrheic keratosis 2 2 TNNT2 (3), PIK3CA (2) 0.02985 0.06452 2.500e-3 3.414e-3 Diffuse mesangial sclerosis Specific language disorder 1 0 COL4A4 (1) 0.04762 0.50000 2.466e-3 3.370e-3 Hyperparathyroidism Intestinal hypomagnesemia 1 1 TRPV6 (4) 0.04762 0.50000 2.466e-3 3.370e-3 Iron-refractory iron deficiency anemia Polycythemia 1 1 TMPRSS6 (5) 0.04762 0.50000 2.466e-3 3.370e-3 Hereditary sensory and autonomic neuropathy Peho syndrome 1 1 KIF1A (6) 0.04762 0.50000 2.466e-3 3.370e-3 173 Male infertility acephalic spermatozoa Specific language disorder 1 1 PMFBP1 (2) 0.04762 0.50000 2.466e-3 3.370e-3 272 Specific language disorder Temple syndrome 1 1 RTL1 (3) 0.04762 0.50000 2.466e-3 3.370e-3 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Down syndrome 1 1 MTHFD1 (5) 0.04762 0.50000 2.466e-3 3.370e-3 Blepharoptosis Developmental delay with variable intellectual disability 1 1 TCF20 (5) 0.04762 0.50000 2.466e-3 3.370e-3 B-lymphoblastic leukemia/lymphoma Duplication 15q11-q13 syndrome 1 1 AUTS2 (2) 0.04762 0.50000 2.466e-3 3.370e-3 Dysautonomia Hereditary sensory and autonomic neuropathy 1 1 ELP1 (4) 0.04762 0.50000 2.466e-3 3.370e-3 Alpha-1 antichymotrypsin deficiency Lipidoses 1 1 SERPINA3 (2) 0.04762 0.50000 2.466e-3 3.370e-3 Alpha-1 antichymotrypsin deficiency Lipoidosis 1 0 SERPINA3 (1) 0.04762 0.50000 2.466e-3 3.370e-3 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Pericarditis 1 1 PRG4 (6) 0.04762 0.50000 2.466e-3 3.370e-3 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Secondary malignant neoplasm 1 1 PRG4 (6) 0.04762 0.50000 2.466e-3 3.370e-3 Brooke-spiegler syndrome Uterine neoplasms 1 1 CYLD (6) 0.02564 1.00000 2.468e-3 3.370e-3 CACNA2D4-related retinopathy Cone dystrophy 1 1 CACNA2D4 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cardiac and skeletal myopathy Left ventricular noncompaction cardiomyopathy 1 1 ACTN2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 cardiomyopathy, dilated, 2e Left ventricular noncompaction cardiomyopathy 1 1 JPH2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 3 cardiomyopathy, dilated, 2l Left ventricular noncompaction cardiomyopathy 1 1 LDB3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Carnitine deficiency Dermatitis 1 1 SLC22A5 (3) 0.02564 1.00000 2.468e-3 3.370e-3 colobomatous microphthalmia-rhizomelic dysplasia syndrome Microphthalmia 1 1 MAB21L2 (4) 0.02564 1.00000 2.468e-3 3.370e-3 52 combined immunodeficiency due to LRBA deficiency Microphthalmia 1 1 LRBA (2) 0.02564 1.00000 2.468e-3 3.370e-3 Complex partial epilepsy Developmental delay 1 1 SCN3A (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy cone dystrophy 3 1 1 GUCA1A (7) 0.02564 1.00000 2.468e-3 3.370e-3 Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige Dermatitis 1 1 DSG1 (3) 0.02564 1.00000 2.468e-3 3.370e-3 Congenital membranous nephropathy Dejerine-sottas disease 1 1 MME (3) 0.02564 1.00000 2.468e-3 3.370e-3 Congenital membranous nephropathy Hypertrophic neuropathy 1 1 MME (3) 0.02564 1.00000 2.468e-3 3.370e-3 Congenital merosin-deficient muscular dystrophy Limb girdle muscular dystrophy 1 1 LAMA2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Congenital posterior urethral valves Cutaneous squamous cell carcinoma 1 1 BNC2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 16 Arboleda-tham syndrome Developmental delay 1 1 KAT6A (3) 0.02564 1.00000 2.468e-3 3.370e-3 arrhythmogenic right ventricular dysplasia 5 Left ventricular noncompaction cardiomyopathy 1 1 TMEM43 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Ataxia with intention tremor and hypotonia Uterine neoplasms 1 1 POU4F1 (4) 0.02564 1.00000 2.468e-3 3.370e-3 Autoinflammation with episodic fever and immune dysregulation Dermatitis 1 1 SHARPIN (5) 0.02564 1.00000 2.468e-3 3.370e-3 46 autosomal dominant slowed nerve conduction velocity Vesicoureteral reflux 1 1 ARHGEF10 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Axial spondylometaphyseal dysplasia Cone dystrophy 1 1 CFAP410 (3) 0.02564 1.00000 2.468e-3 3.370e-3 bardet-biedl syndrome 11 Limb girdle muscular dystrophy 1 1 TRIM32 (5) 0.02564 1.00000 2.468e-3 3.370e-3 Barth syndrome Left ventricular noncompaction cardiomyopathy 1 1 TAFAZZIN (5) 0.02564 1.00000 2.468e-3 3.370e-3 3 BBS5-related ciliopathy Cone dystrophy 1 1 BBS5 (2) 0.02564 1.00000 2.468e-3 3.370e-3 7 Beta-sarcoglycanopathy Limb girdle muscular dystrophy 1 1 SGCB (7) 0.02564 1.00000 2.468e-3 3.370e-3 15q11q13 microduplication syndrome Developmental delay 1 1 UBE3A (2) 0.02564 1.00000 2.468e-3 3.370e-3 2-aminoadipic 2-oxoadipic aciduria Dejerine-sottas disease 1 1 DHTKD1 (6) 0.02564 1.00000 2.468e-3 3.370e-3 2-aminoadipic 2-oxoadipic aciduria Hypertrophic neuropathy 1 1 DHTKD1 (6) 0.02564 1.00000 2.468e-3 3.370e-3 2-aminoadipic 2-oxoadipic aciduria Roussy-levy syndrome 1 1 DHTKD1 (6) 0.02564 1.00000 2.468e-3 3.370e-3 CERKL-related retinopathy Cone dystrophy 1 1 CERKL (2) 0.02564 1.00000 2.468e-3 3.370e-3 7 Cernunnos-XLF deficiency Microphthalmia 1 1 NHEJ1 (3) 0.02564 1.00000 2.468e-3 3.370e-3 Charcot-Marie-Tooth disease axonal type 2P Dejerine-sottas disease 1 1 LRSAM1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 13 Charcot-Marie-Tooth disease axonal type 2P Hypertrophic neuropathy 1 1 LRSAM1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 13 Charcot-Marie-Tooth disease axonal type 2P Roussy-levy syndrome 1 1 LRSAM1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 13 Charcot-Marie-Tooth disease type 2A1 Dejerine-sottas disease 1 1 KIF1B (2) 0.02564 1.00000 2.468e-3 3.370e-3 Charcot-Marie-Tooth disease type 2D Dejerine-sottas disease 1 1 GARS1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 13 Charcot-Marie-Tooth disease type 2T Dejerine-sottas disease 1 1 MME (2) 0.02564 1.00000 2.468e-3 3.370e-3 Charcot-Marie-Tooth disease type 2T Hypertrophic neuropathy 1 1 MME (2) 0.02564 1.00000 2.468e-3 3.370e-3 Charcot-Marie-Tooth disease type 4 Dejerine-sottas disease 1 1 PRX (4) 0.02564 1.00000 2.468e-3 3.370e-3 Charcot-Marie-Tooth disease type 4 Hypertrophic neuropathy 1 1 PRX (3) 0.02564 1.00000 2.468e-3 3.370e-3 Charcot-Marie-Tooth disease type 4B3 Dejerine-sottas disease 1 1 SBF1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 13 Charcot-Marie-Tooth disease type 4B3 Hypertrophic neuropathy 1 1 SBF1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 13 Charcot-Marie-Tooth disease type 4B3 Roussy-levy syndrome 1 1 SBF1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 13 Charcot-Marie-Tooth disease type 4C Dejerine-sottas disease 1 1 SH3TC2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Chromosome 10q deletion syndrome Vesicoureteral reflux 1 1 EBF3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Chromosome 1q deletion syndrome Developmental delay 1 1 ZBTB18 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Chromosome 1q43-q44 deletion syndrome Developmental delay 1 0 ZBTB18 (1) 0.02564 1.00000 2.468e-3 3.370e-3 Chromosome 20q11-q12 deletion syndrome Cutaneous squamous cell carcinoma 1 1 EPB41L1 (3) 0.02564 1.00000 2.468e-3 3.370e-3 16 CNGA3-related retinopathy Cone dystrophy 1 1 CNGA3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 CNGB3-related retinopathy Cone dystrophy 1 1 CNGB3 (4) 0.02564 1.00000 2.468e-3 3.370e-3 Developmental delay with ataxia, hypotonia, and facial dysmorphism Vesicoureteral reflux 1 1 EBF3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Developmental delay Developmental delay with hypotonia and behavioral abnormalities 1 1 SRCAP (4) 0.02564 1.00000 2.468e-3 3.370e-3 Developmental delay Developmental delay with hypotonia and impaired language 1 1 FBXW7 (4) 0.02564 1.00000 2.468e-3 3.370e-3 26 Developmental delay Developmental delay with variable neurological abnormalities 1 1 LMBRD2 (4) 0.02564 1.00000 2.468e-3 3.370e-3 26 Dilatation of left cardiac ventricle Left ventricular noncompaction cardiomyopathy 1 0 ACTC1 (1) 0.02564 1.00000 2.468e-3 3.370e-3 dilated cardiomyopathy 1C Left ventricular noncompaction cardiomyopathy 1 1 LDB3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 dilated cardiomyopathy 1CC Left ventricular noncompaction cardiomyopathy 1 1 NEXN (2) 0.02564 1.00000 2.468e-3 3.370e-3 3 dilated cardiomyopathy 1FF Left ventricular noncompaction cardiomyopathy 1 1 TNNI3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 dilated cardiomyopathy 1J Left ventricular noncompaction cardiomyopathy 1 1 EYA4 (2) 0.02564 1.00000 2.468e-3 3.370e-3 dilated cardiomyopathy 1JJ Left ventricular noncompaction cardiomyopathy 1 1 LAMA4 (2) 0.02564 1.00000 2.468e-3 3.370e-3 3 dilated cardiomyopathy 1KK Left ventricular noncompaction cardiomyopathy 1 1 MYPN (2) 0.02564 1.00000 2.468e-3 3.370e-3 dilated cardiomyopathy 1R Left ventricular noncompaction cardiomyopathy 1 1 ACTC1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 dilated cardiomyopathy 1Y Left ventricular noncompaction cardiomyopathy 1 1 TPM1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 3 dilated cardiomyopathy 2A Left ventricular noncompaction cardiomyopathy 1 1 TNNI3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cholangiocarcinoma Endometrioid carcinoma 1 0 MSLN (1) 0.02564 1.00000 2.468e-3 3.370e-3 Dermatitis Systemic primary carnitine deficiency 1 1 SLC22A5 (4) 0.02564 1.00000 2.468e-3 3.370e-3 Limb girdle muscular dystrophy TOR1AIP1-related myopathy 1 1 TOR1AIP1 (5) 0.02564 1.00000 2.468e-3 3.370e-3 Myasthenia gravis TRPM1-related retinopathy 1 1 TRPM1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy Ulnar-fibular ray defect and brachydactyly 1 0 RP1L1 (1) 0.02564 1.00000 2.468e-3 3.370e-3 Microphthalmia X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 1 1 HMGB3 (5) 0.02564 1.00000 2.468e-3 3.370e-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 3.370e-3 hypotonia, ataxia, and delayed development syndrome Vesicoureteral reflux 1 1 EBF3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Dermatitis Ichthyosis vulgaris 1 1 FLG (3) 0.02564 1.00000 2.468e-3 3.370e-3 Dermatitis immunodeficiency 15a 1 1 IKBKB (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cutaneous squamous cell carcinoma immunodeficiency 60 1 1 BACH2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 immunodeficiency 63 with lymphoproliferation and autoimmunity Myasthenia gravis 1 1 IL2RB (2) 0.02564 1.00000 2.468e-3 3.370e-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 3.370e-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 3.370e-3 Intellectual developmental disorder movement cerebellar Limb girdle muscular dystrophy 1 1 TRAPPC11 (6) 0.02564 1.00000 2.468e-3 3.370e-3 Developmental delay Intellectual developmental disorder seizures language 1 1 SETD1B (3) 0.02564 1.00000 2.468e-3 3.370e-3 26 Dermatitis Interstitial systitis 1 0 ADRB2 (1) 0.02564 1.00000 2.468e-3 3.370e-3 Interstitial systitis Myasthenia gravis 1 0 ADRB2 (1) 0.02564 1.00000 2.468e-3 3.370e-3 isolated microphthalmia 6 Microphthalmia 1 1 PRSS56 (4) 0.02564 1.00000 2.468e-3 3.370e-3 52 Cholangiocarcinoma KCND2-related neurodevelopmental disorder with or without seizures 1 1 KCND2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Kidney atrophy Microphthalmia 1 0 C12orf57 (1) 0.02564 1.00000 2.468e-3 3.370e-3 Kidney atrophy Vesicoureteral reflux 1 0 C12orf57 (1) 0.02564 1.00000 2.468e-3 3.370e-3 LAMA2-related muscular dystrophy Limb girdle muscular dystrophy 1 1 LAMA2 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Familial cylindromatosis Uterine neoplasms 1 1 CYLD (2) 0.02564 1.00000 2.468e-3 3.370e-3 Dermatitis familial meningioma 1 1 SMARCE1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Developmental delay floating-harbor syndrome 1 1 SRCAP (2) 0.02564 1.00000 2.468e-3 3.370e-3 Focal dermal hypoplasia Microphthalmia 1 1 PORCN (8) 0.02564 1.00000 2.468e-3 3.370e-3 52 Dermatitis Focal palmoplantar keratoderma with joint keratoses 1 1 DSG1 (3) 0.02564 1.00000 2.468e-3 3.370e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Uterine neoplasms 1 1 CYLD (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy GNAT2-related retinopathy 1 1 GNAT2 (4) 0.02564 1.00000 2.468e-3 3.370e-3 Heart defect, tongue hamartoma and polysyndactyly Vesicoureteral reflux 1 1 WDPCP (5) 0.02564 1.00000 2.468e-3 3.370e-3 Autoimmune hepatitis hereditary fructose intolerance 1 1 ALDOB (3) 0.02564 1.00000 2.468e-3 3.370e-3 Cutaneous squamous cell carcinoma histidinemia 1 1 HAL (2) 0.02564 1.00000 2.468e-3 3.370e-3 16 Hypo-akinesia disorder of prenatal onset Myasthenia gravis 1 1 CHRNG (4) 0.02564 1.00000 2.468e-3 3.370e-3 hypogonadotropic hypogonadism 4 with or without anosmia Kallmann syndrome 1 1 PROK2 (5) 0.02564 1.00000 2.468e-3 3.370e-3 58 Multiple familial trichoepithelioma Uterine neoplasms 1 1 CYLD (5) 0.02564 1.00000 2.468e-3 3.370e-3 Limb girdle muscular dystrophy Multisystem disorder 1 1 TOR1AIP1 (5) 0.02564 1.00000 2.468e-3 3.370e-3 Limb girdle muscular dystrophy myopathy caused by variation in FKTN 1 1 FKTN (3) 0.02564 1.00000 2.468e-3 3.370e-3 Limb girdle muscular dystrophy myopathy caused by variation in POMT2 1 1 POMT2 (4) 0.02564 1.00000 2.468e-3 3.370e-3 Left ventricular noncompaction cardiomyopathy MYPN-related myopathy 1 1 MYPN (2) 0.02564 1.00000 2.468e-3 3.370e-3 Microphthalmia NAA10-related syndrome 1 1 NAA10 (7) 0.02564 1.00000 2.468e-3 3.370e-3 Brain neoplasms neuroblastoma, susceptibility to, 3 1 1 ALK (2) 0.02564 1.00000 2.468e-3 3.370e-3 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 3.370e-3 Developmental delay Neurooculocardio-genitourinary syndrome 1 1 WDR37 (6) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy NMNAT1-related retinopathy 1 1 NMNAT1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy occult macular dystrophy 1 1 RP1L1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Microphthalmia Orbital disease 1 1 RARB (7) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy RAB28-related retinopathy 1 1 RAB28 (2) 0.02564 1.00000 2.468e-3 3.370e-3 7 Dermatitis renal hypomagnesemia 4 1 1 EGF (3) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy retinitis pigmentosa 47 1 1 SAG (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy retinitis pigmentosa 65 1 1 CDHR1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 7 Limb girdle muscular dystrophy Sarcotubular myopathy 1 1 TRIM32 (6) 0.02564 1.00000 2.468e-3 3.370e-3 Left ventricular noncompaction cardiomyopathy Sensorineural deafness with dilated cardiomyopathy 1 1 EYA4 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cholangiocarcinoma Serrated polyposis 1 1 RNF43 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cholangiocarcinoma sessile serrated polyposis cancer syndrome 1 1 RNF43 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Dermatitis severe combined immunodeficiency due to IKK2 deficiency 1 1 IKBKB (2) 0.02564 1.00000 2.468e-3 3.370e-3 Left ventricular noncompaction cardiomyopathy sick sinus syndrome 2, autosomal dominant 1 1 HCN4 (2) 0.02564 1.00000 2.468e-3 3.370e-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 3.370e-3 Cone dystrophy SRD5A3-congenital disorder of glycosylation 1 1 SRD5A3 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Laryngeal hypoplasia Vesicoureteral reflux 1 1 FOXP4 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Brain neoplasms melanoma, cutaneous malignant, susceptibility to, 3 1 1 CDK4 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Microphthalmia microphthalmia, syndromic 12 1 1 RARB (7) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy MKKS-related ciliopathy 1 1 MKKS (2) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy PDE6C-related retinopathy 1 1 PDE6C (8) 0.02564 1.00000 2.468e-3 3.370e-3 Cone dystrophy PHARC syndrome 1 1 ABHD12 (2) 0.02564 1.00000 2.468e-3 3.370e-3 7 PROM1-related dominant retinopathy Uterine neoplasms 1 1 PROM1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 PROM1-related recessive retinopathy Uterine neoplasms 1 1 PROM1 (2) 0.02564 1.00000 2.468e-3 3.370e-3 Bronchitis Schizoaffective disorder 2 1 CSMD1 (1), NPY (2) 0.03030 0.06061 2.394e-3 3.312e-3 RDH12-related dominant retinopathy Retinal degeneration 1 1 RDH12 (2) 0.02632 1.00000 2.403e-3 3.312e-3 RDH12-related recessive retinopathy Retinal degeneration 1 1 RDH12 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Retinal degeneration retinitis pigmentosa 27 1 1 NRL (3) 0.02632 1.00000 2.403e-3 3.312e-3 7 Cleft lip Salivary gland agenesis 1 1 FGF10 (3) 0.02632 1.00000 2.403e-3 3.312e-3 sick sinus syndrome 2, autosomal dominant Toxic epidermal necrolysis 1 1 HCN4 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Atypical femoral fracture SMAD6-related disease 1 1 SMAD6 (2) 0.02632 1.00000 2.403e-3 3.312e-3 nephrotic syndrome 14 Seborrheic dermatitis 1 1 SGPL1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 263 nephrotic syndrome, type 3 Retinal degeneration 1 1 PLCE1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 netherton syndrome Seborrheic dermatitis 1 1 SPINK5 (2) 0.02632 1.00000 2.403e-3 3.312e-3 263 neuronopathy, distal hereditary motor, autosomal recessive 5 Spinal muscular atrophy 1 1 DNAJB2 (2) 0.02632 1.00000 2.403e-3 3.312e-3 13 NMNAT1-related retinopathy Retinal degeneration 1 1 NMNAT1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Farber disease Spinal muscular atrophy 1 1 ASAH1 (5) 0.02632 1.00000 2.403e-3 3.312e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Spinal muscular atrophy 1 1 CHCHD10 (4) 0.02632 1.00000 2.403e-3 3.312e-3 Gestational trophoblastic disease Toxic epidermal necrolysis 1 1 POU5F1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease glycogen storage disease due to glycogen branching enzyme deficiency 1 1 GBE1 (7) 0.02632 1.00000 2.403e-3 3.312e-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 3.312e-3 154 Glycogen storage disease glycogen storage disease I 1 1 G6PC1 (8) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease glycogen storage disease II 1 1 GAA (7) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease glycogen storage disease III 1 1 AGL (7) 0.02632 1.00000 2.403e-3 3.312e-3 154 Glycogen storage disease glycogen storage disease IXb 1 1 PHKB (7) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease glycogen storage disease IXc 1 1 PHKG2 (8) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease glycogen storage disease IXd 1 1 PHKA1 (6) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease glycogen storage disease V 1 1 PYGM (7) 0.02632 1.00000 2.403e-3 3.312e-3 154 Glycogen storage disease glycogen storage disease VI 1 1 PYGL (7) 0.02632 1.00000 2.403e-3 3.312e-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 3.312e-3 Glycogen storage disease Glycoprotein storage disease 1 1 GAA (7) 0.02632 1.00000 2.403e-3 3.312e-3 Seborrheic dermatitis Tyrosine kinase 2 deficiency 1 1 TYK2 (3) 0.02632 1.00000 2.403e-3 3.312e-3 Retinal degeneration Uridine-cytidineuria 1 1 SLC28A1 (3) 0.02632 1.00000 2.403e-3 3.312e-3 7 Spinal muscular atrophy Vexas syndrome 1 1 UBA1 (4) 0.02632 1.00000 2.403e-3 3.312e-3 13 Autoinflammatory syndrome Von zumbuzschs disease 1 0 IL36RN (1) 0.02632 1.00000 2.403e-3 3.312e-3 Intellectual developmental disorder cataracts myopathy Toxic epidermal necrolysis 1 1 ZBTB20 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Intellectual developmental disorder dysmorphic macrocephaly Seborrheic dermatitis 1 1 ZBTB7A (2) 0.02632 1.00000 2.403e-3 3.312e-3 joubert syndrome 3 Retinal degeneration 1 1 AHI1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 LAMA2-related muscular dystrophy Toxic epidermal necrolysis 1 1 LAMA2 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease Hepatic glycogen synthase deficiency 1 1 GYS2 (6) 0.02632 1.00000 2.403e-3 3.312e-3 Hereditary axonal motor and sensory neuropathy Spinal muscular atrophy 1 1 BICD2 (4) 0.02632 1.00000 2.403e-3 3.312e-3 hereditary peripheral neuropathy Spinal muscular atrophy 1 1 IGHMBP2 (4) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome hermansky-pudlak syndrome 2 1 1 AP3B1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome hermansky-pudlak syndrome 9 1 1 BLOC1S6 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome Papa syndrome 1 1 PSTPIP1 (3) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease PGM1-congenital disorder of glycosylation 1 1 PGM1 (3) 0.02632 1.00000 2.403e-3 3.312e-3 154 Duodenal ulcer PLD1-related congenital heart disease 1 1 PLD1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease polyglucosan body myopathy 1 with or without immunodeficiency 1 1 RBCK1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Glycogen storage disease polyglucosan body myopathy type 2 1 1 GYG1 (7) 0.02632 1.00000 2.403e-3 3.312e-3 154 Glycogen storage disease primary ciliary dyskinesia 15 1 1 CCDC40 (2) 0.02632 1.00000 2.403e-3 3.312e-3 primrose syndrome Toxic epidermal necrolysis 1 1 ZBTB20 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome pseudohypoaldosteronism, type IB1, autosomal recessive 1 1 SCNN1A (2) 0.02632 1.00000 2.403e-3 3.312e-3 Duodenal ulcer leukemia, acute myeloid, susceptibility to 1 1 FLT3 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome lymphoproliferative syndrome 1 1 1 ITK (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome lymphoproliferative syndrome 2 1 1 CD27 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome lysinuric protein intolerance 1 1 SLC7A7 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome Majeed syndrome 1 1 LPIN2 (6) 0.02632 1.00000 2.403e-3 3.312e-3 Duodenal ulcer MECOM-associated syndrome 1 1 MECOM (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome methylmalonic aciduria, cblb type 1 1 MMAB (2) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome mucopolysaccharidosis type 3A 1 1 SGSH (2) 0.02632 1.00000 2.403e-3 3.312e-3 Atypical femoral fracture mucopolysaccharidosis type 4A 1 1 GALNS (2) 0.02632 1.00000 2.403e-3 3.312e-3 Dicarboxylic aminoaciduria Retinal degeneration 1 1 SLC1A1 (6) 0.02632 1.00000 2.403e-3 3.312e-3 Dicarboxylicaminoaciduria Retinal degeneration 1 1 SLC1A1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 dilated cardiomyopathy 1D Glycogen storage disease 1 1 TNNT2 (3) 0.02632 1.00000 2.403e-3 3.312e-3 Dimauro disease Glycogen storage disease 1 1 PGAM2 (6) 0.02632 1.00000 2.403e-3 3.312e-3 154 Autoinflammatory syndrome Ditra syndrome 1 1 IL36RN (2) 0.02632 1.00000 2.403e-3 3.312e-3 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Glycogen storage disease 1 1 AFG3L2 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Congenital-onset steinert myotonic dystrophy Noonan syndrome 1 1 DMPK (2) 0.02632 1.00000 2.403e-3 3.312e-3 Cryptogenic multifocal ulcerous stenosing enteritis Duodenal ulcer 1 1 PLA2G4A (3) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome Cyclic hematopoiesis 1 1 ELANE (2) 0.02632 1.00000 2.403e-3 3.312e-3 Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder Duodenal ulcer 1 1 PLA2G4A (5) 0.02632 1.00000 2.403e-3 3.312e-3 Danon disease Glycogen storage disease 1 1 LAMP2 (6) 0.02632 1.00000 2.403e-3 3.312e-3 154 Degcags syndrome Diamond-blackfan anemia 1 1 ZNF699 (3) 0.02632 1.00000 2.403e-3 3.312e-3 240 Boudin-mortier syndrome Retinal degeneration 1 1 NPR3 (4) 0.02632 1.00000 2.403e-3 3.312e-3 cone-rod dystrophy 2 Retinal degeneration 1 1 CRX (2) 0.02632 1.00000 2.403e-3 3.312e-3 7 Congenital merosin-deficient muscular dystrophy Toxic epidermal necrolysis 1 1 LAMA2 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Cernunnos-XLF deficiency Duodenal ulcer 1 1 NHEJ1 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Charcot-Marie-Tooth disease type 2A1 Spinal muscular atrophy 1 1 KIF1B (2) 0.02632 1.00000 2.403e-3 3.312e-3 Charcot-Marie-Tooth disease type 2D Spinal muscular atrophy 1 1 GARS1 (5) 0.02632 1.00000 2.403e-3 3.312e-3 13 Cleft lip Cleft lip/palate-ectodermal dysplasia syndrome 1 1 NECTIN1 (6) 0.02632 1.00000 2.403e-3 3.312e-3 ASAH1-related sphingolipidosis Spinal muscular atrophy 1 1 ASAH1 (6) 0.02632 1.00000 2.403e-3 3.312e-3 Ataxia-pancytopenia syndrome Autoinflammatory syndrome 1 1 SAMD9L (5) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia 1 1 PSTPIP1 (3) 0.02632 1.00000 2.403e-3 3.312e-3 Autoinflammatory syndrome Autoinflammatory syndrome, familial, behcet-like 1 1 TNFAIP3 (5) 0.02632 1.00000 2.403e-3 3.312e-3 autosomal dominant slowed nerve conduction velocity Spinal muscular atrophy 1 1 ARHGEF10 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Adenosine deaminase 2 deficiency Diamond-blackfan anemia 1 1 ADA2 (4) 0.02632 1.00000 2.403e-3 3.312e-3 Adenosine deaminase 2 deficiency Autoinflammatory syndrome 1 1 ADA2 (4) 0.02632 1.00000 2.403e-3 3.312e-3 Adult polyglucosan body disease Glycogen storage disease 1 1 GBE1 (7) 0.02632 1.00000 2.403e-3 3.312e-3 Adult-onset proximal spinal muscular atrophy Spinal muscular atrophy 1 1 VAPB (4) 0.02632 1.00000 2.403e-3 3.312e-3 AFG3L2-related optic atrophy and/or spastic ataxia spectrum Glycogen storage disease 1 1 AFG3L2 (2) 0.02632 1.00000 2.403e-3 3.312e-3 Albinism Duodenal ulcer 1 1 TPCN2 (2) 0.02632 1.00000 2.403e-3 3.312e-3 amyotrophic lateral sclerosis type 8 Spinal muscular atrophy 1 1 VAPB (4) 0.02632 1.00000 2.403e-3 3.312e-3 Aplasia of lacrimal and salivary glands Cleft lip 1 1 FGF10 (5) 0.02632 1.00000 2.403e-3 3.312e-3 Esophageal adenocarcinoma Gastrointestinal disease 2 0 CRTC1 (1), FOXP1 (1) 0.03030 0.06250 2.385e-3 3.307e-3 Cleft lip with or without cleft palate Trigeminal nerve disease 1 1 CTNND1 (2) 0.08333 0.16667 2.336e-3 3.242e-3 165 Congenital bile acid synthesis defect Hereditary sensory and motor neuropathy 1 1 AMACR (6) 0.08333 0.16667 2.336e-3 3.242e-3 Charge syndrome complex neurodevelopmental disorder with or without congenital anomalies 1 1 RERE (2) 0.07692 0.25000 2.336e-3 3.242e-3 Carcinoid tumor Congenital esophageal anomaly 1 1 CDKAL1 (2) 0.07692 0.25000 2.336e-3 3.242e-3 Carcinoid tumor Diabetic polyneuropathy 1 0 CDKAL1 (1) 0.07692 0.25000 2.336e-3 3.242e-3 Congenital pain insensitivity Corneal ulcer 1 1 NGF (2) 0.07692 0.25000 2.336e-3 3.242e-3 Asperger syndrome Salivary gland disease 1 0 NTM (1) 0.07692 0.25000 2.336e-3 3.242e-3 Vertebral, cardiac, renal, and limb defects syndrome Vitamin deficiency disorder 1 1 NADSYN1 (5) 0.07692 0.25000 2.336e-3 3.242e-3 primary ciliary dyskinesia Visceral heterotaxy 1 1 DAW1 (2) 0.07692 0.25000 2.336e-3 3.242e-3 Anti-glomerular basement membrane disease Irritant dermatitis 1 1 HLA-DPB1 (2) 0.07692 0.25000 2.336e-3 3.242e-3 Hyperproinsulinemia Myoclonic dystonia 1 1 DRD2 (2) 0.07692 0.25000 2.336e-3 3.242e-3 118 Dystonia musculorum deformans Myoclonic dystonia 1 1 SGCE (4) 0.07692 0.25000 2.336e-3 3.242e-3 Hyperproinsulinemia Male pseudohypopituitarism 1 1 LHB (2) 0.07692 0.25000 2.336e-3 3.242e-3 Mitochondrial myopathy with sideroblastic anemia Optic neuropathy 1 0 ATP6 (1) 0.07692 0.25000 2.336e-3 3.242e-3 Thyrotoxic periodic paralysis Urethral disease 1 0 ZFHX3 (1) 0.06667 0.33333 2.336e-3 3.242e-3 Bilirubin metabolism disease Rotor syndrome 1 1 SLCO1B1 (4) 0.06667 0.33333 2.336e-3 3.242e-3 256 Smith-magenis syndrome Specific learning disability 1 1 IQSEC2 (2) 0.06667 0.33333 2.336e-3 3.242e-3 Frontotemporal dementia with or without amyotrophic lateral sclerosis Genetic neurodegenerative disease 1 0 KIF5A (1) 0.06667 0.33333 2.336e-3 3.242e-3 Developmental coordination disorder Hypotonia-cystinuria syndrome 1 1 CAMKMT (2) 0.06667 0.33333 2.336e-3 3.242e-3 Congenital pes cavus Pericardium disorder 1 1 PTPRQ (2) 0.06667 0.33333 2.336e-3 3.242e-3 Hypotrichosis simplex Perniola krajewska carnevale syndrome 1 1 LSS (3) 0.06667 0.33333 2.336e-3 3.242e-3 Bile duct cancer Specific learning disability 1 1 MAPK1 (2) 0.06667 0.33333 2.336e-3 3.242e-3 Bile duct cancer Trigeminal neuralgia 1 1 MAPK1 (3) 0.06667 0.33333 2.336e-3 3.242e-3 Bone remodeling disease Synpolydactyly 1 1 CHST11 (2) 0.06667 0.33333 2.336e-3 3.242e-3 Bone remodeling disease Hennekam syndrome 1 1 CCBE1 (6) 0.06667 0.33333 2.336e-3 3.242e-3 Combined deficiency of vitamin k-dependent clotting factors familial thoracic aortic aneurysm and aortic dissection 1 1 MAT2A (2) 0.06667 0.33333 2.336e-3 3.242e-3 Corticobasal syndrome Frontotemporal dementia with or without amyotrophic lateral sclerosis 1 1 TBK1 (6) 0.06667 0.33333 2.336e-3 3.242e-3 Cystic fibrosis-related diabetes Intestinal obstruction 1 1 SLC26A9 (3) 0.06667 0.33333 2.336e-3 3.242e-3 42 Dent disease Hypophosphatemic rickets 1 1 CLCN5 (7) 0.06667 0.33333 2.336e-3 3.242e-3 Cholecystitis Sitosterolemia 1 1 ABCG8 (7) 0.06667 0.33333 2.336e-3 3.242e-3 Chromosome 22q11.2 microdeletion syndrome Specific learning disability 1 1 MAPK1 (2) 0.06667 0.33333 2.336e-3 3.242e-3 Coenzyme q10 deficiency Shy-drager syndrome 1 1 COQ2 (4) 0.06667 0.33333 2.336e-3 3.242e-3 Central nervous system malformation Lipodystrophy 1 1 LMNB2 (4) 0.05000 0.50000 2.337e-3 3.242e-3 79 Chromosome 2q32-q33 deletion syndrome Clinodactyly 1 1 SATB2 (3) 0.05000 0.50000 2.337e-3 3.242e-3 197 Cardiac, facial, and digital anomalies with developmental delay syndromic complex neurodevelopmental disorder 1 1 TRAF7 (5) 0.05000 0.50000 2.337e-3 3.242e-3 Dyssegmental dysplasia Spondyloepiphyseal dysplasia 1 1 HSPG2 (4) 0.05000 0.50000 2.337e-3 3.242e-3 Bifid uvula Clinodactyly 1 0 ARF3 (1) 0.05000 0.50000 2.337e-3 3.242e-3 Congenital nervous system disorder Developmental regression 1 1 UNC13A (3) 0.05000 0.50000 2.337e-3 3.242e-3 Congenital radioulnar synostosis Thoracic aortic aneurysm 1 1 SMAD6 (2) 0.05000 0.50000 2.337e-3 3.242e-3 Chorea Continuous spike and wave during slow wave sleep syndrome 1 0 FRRS1L (1) 0.05000 0.50000 2.337e-3 3.242e-3 Corpus callosum agenesis Seckel syndrome 1 1 CDK5RAP2 (2) 0.05000 0.50000 2.337e-3 3.242e-3 Clinodactyly Corpus callosum agenesis neuronopathy syndrome 1 1 SLC12A6 (3) 0.05000 0.50000 2.337e-3 3.242e-3 17p13.3 microduplication syndrome Carcinogenesis 1 1 PAFAH1B1 (3) 0.05000 0.50000 2.337e-3 3.242e-3 Acral peeling skin syndrome Junctional epidermolysis bullosa 1 1 CSTA (3) 0.05000 0.50000 2.337e-3 3.242e-3 Agenesis of corpus callosum Clinodactyly 1 1 SLC12A6 (2) 0.05000 0.50000 2.337e-3 3.242e-3 Aortic atherosclerosis Diabetic nephropathy type 2 1 0 NYAP2 (1) 0.05000 0.50000 2.337e-3 3.242e-3 Congenital cataract facial dysmorphism neuropathy syndrome Nuclear cataract 1 1 GJA3 (3) 0.05000 0.50000 2.337e-3 3.242e-3 51 Corneal neovascularization Ovarian hyperstimulation syndrome 1 0 SERPINF1 (1) 0.05000 0.50000 2.337e-3 3.242e-3 Perisylvian polymicrogyria Seckel syndrome 1 1 CPAP (6) 0.05000 0.50000 2.337e-3 3.242e-3 Carcinogenesis Primary adrenal insufficiency 1 1 CUX1 (2) 0.05000 0.50000 2.337e-3 3.242e-3 Fetal erythroblastosis Giant cell arteritis 1 0 FCGR2A (1) 0.05000 0.50000 2.337e-3 3.242e-3 Gm1 gangliosidosis Spondyloepiphyseal dysplasia 1 1 GLB1 (6) 0.05000 0.50000 2.337e-3 3.242e-3 Corneal neovascularization Thyroid hormone resistance 1 1 TRHR (3) 0.05000 0.50000 2.337e-3 3.242e-3 Seckel syndrome Urethral syndrome 1 1 CDK5RAP2 (2) 0.05000 0.50000 2.337e-3 3.242e-3 syndromic complex neurodevelopmental disorder Ververi-brady syndrome 1 1 QRICH1 (5) 0.05000 0.50000 2.337e-3 3.242e-3 122 Clinodactyly Wilson-turner syndrome 1 1 HDAC8 (3) 0.05000 0.50000 2.337e-3 3.242e-3 Lipodystrophy non-severe combined immunodeficiency due to polymerase delta deficiency 1 1 POLD1 (3) 0.05000 0.50000 2.337e-3 3.242e-3 Hematologic disease Rhabdoid tumor 1 1 SMARCB1 (2) 0.05000 0.50000 2.337e-3 3.242e-3 Junctional epidermolysis bullosa Sjogren-larsson syndrome 1 0 KRT14 (1) 0.05000 0.50000 2.337e-3 3.242e-3 Birk-barel syndrome syndromic complex neurodevelopmental disorder 1 1 TRPM3 (2) 0.05000 0.50000 2.337e-3 3.242e-3 122 Cataract-glaucoma syndrome syndromic complex neurodevelopmental disorder 1 1 TRPM3 (3) 0.05000 0.50000 2.337e-3 3.242e-3 122 Intellectual developmental disorder dysmorphic cerebellar Melas syndrome 1 1 CYTB (2) 0.05000 0.50000 2.337e-3 3.242e-3 Intellectual developmental disorder dysmorphic ptosis syndromic complex neurodevelopmental disorder 1 1 BRPF1 (6) 0.05000 0.50000 2.337e-3 3.242e-3 122 Corneal neovascularization Intestinal polyposis 1 1 STK11 (3) 0.05000 0.50000 2.337e-3 3.242e-3 Gross motor development delay Hemorrhagic stroke 1 1 PDGFA (2) 0.05000 0.50000 2.337e-3 3.242e-3 HELIOS deficiency T-cell leukemia-lymphoma 1 1 IKZF2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 153 Distal hereditary motor neuropathy Hereditary axonal motor and sensory neuropathy 1 0 BICD2 (1) 0.02703 1.00000 2.338e-3 3.242e-3 Distal hereditary motor neuropathy hereditary peripheral neuropathy 1 1 IGHMBP2 (3) 0.02703 1.00000 2.338e-3 3.242e-3 Emphysema hermansky-pudlak syndrome 10 1 1 AP3D1 (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 hypomagnesemia, seizures, and intellectual disability 1 Moyamoya angiopathy 1 1 CNNM2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Naxos disease Ventricular fibrillation 1 1 JUP (6) 0.02703 1.00000 2.338e-3 3.242e-3 Brain infarction neuroblastoma, susceptibility to, 3 1 1 ALK (2) 0.02703 1.00000 2.338e-3 3.242e-3 Moyamoya angiopathy neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 1 1 CAPRIN1 (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Distal hereditary motor neuropathy neuronopathy, distal hereditary motor, autosomal dominant 1 1 HSPB8 (6) 0.02703 1.00000 2.338e-3 3.242e-3 Distal hereditary motor neuropathy neuronopathy, distal hereditary motor, autosomal recessive 5 1 1 DNAJB2 (7) 0.02703 1.00000 2.338e-3 3.242e-3 13 Distal hereditary motor neuropathy neuronopathy, distal hereditary motor, type 7A 1 1 SLC5A7 (6) 0.02703 1.00000 2.338e-3 3.242e-3 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Neurooculocardio-genitourinary syndrome 1 1 WDR37 (6) 0.02703 1.00000 2.338e-3 3.242e-3 Complete unilateral cleft lip NOG-related symphalangism spectrum disorder 1 1 NOG (2) 0.02703 1.00000 2.338e-3 3.242e-3 Emphysema Ocular albinism with sensorineural deafness 1 1 AP3D1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Choroidal neovascularization Ocular hypotension 1 1 VEGFA (2) 0.02703 1.00000 2.338e-3 3.242e-3 Ocular hypotension Tongue disorder 1 0 ESRRG (1) 0.02703 1.00000 2.338e-3 3.242e-3 Ocular hypotension Usher syndrome type 2D 1 1 WHRN (2) 0.02703 1.00000 2.338e-3 3.242e-3 Microphthalmos Orbital disease 1 1 RARB (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Focal dermal hypoplasia Microphthalmos 1 1 PORCN (7) 0.02703 1.00000 2.338e-3 3.242e-3 52 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay PMM2-congenital disorder of glycosylation 1 1 PMM2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 poirier-bienvenu neurodevelopmental syndrome T-cell leukemia-lymphoma 1 1 CSNK2B (2) 0.02703 1.00000 2.338e-3 3.242e-3 PRKAG2-related cardiomyopathy Proliferative diabetic retinopathy 1 1 PRKAG2 (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 PROM1-related dominant retinopathy Smooth surface dental caries 1 1 PROM1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 PROM1-related recessive retinopathy Smooth surface dental caries 1 1 PROM1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Complete unilateral cleft lip Proximal symphalangism 1 1 NOG (2) 0.02703 1.00000 2.338e-3 3.242e-3 Distal hereditary motor neuropathy pyridoxal phosphate-responsive seizures 1 1 PNPO (2) 0.02703 1.00000 2.338e-3 3.242e-3 Distal hereditary motor neuropathy Pyridoxamine 5'-phosphate oxidase deficiency 1 1 PNPO (2) 0.02703 1.00000 2.338e-3 3.242e-3 Brain infarction leukoencephalopathy with vanishing white matter 3 1 1 EIF2B3 (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Complete unilateral cleft lip Merkel cell carcinoma 1 1 MYC (2) 0.02703 1.00000 2.338e-3 3.242e-3 microphthalmia, syndromic 12 Microphthalmos 1 1 RARB (2) 0.02703 1.00000 2.338e-3 3.242e-3 17q11.2 microduplication syndrome Moyamoya angiopathy 1 1 NF1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 71 Cervical lymphadenopathy Moyamoya angiopathy 1 0 NF1 (1) 0.02703 1.00000 2.338e-3 3.242e-3 71 Moyamoya angiopathy Watson syndrome 1 1 NF1 (3) 0.02703 1.00000 2.338e-3 3.242e-3 71 Moyamoya angiopathy Tetany 1 1 CNNM2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Learning disorders Thauvin-robinet-faivre syndrome 1 1 FIBP (3) 0.02703 1.00000 2.338e-3 3.242e-3 Microphthalmos Trichiasis 1 0 MCM7 (1) 0.02703 1.00000 2.338e-3 3.242e-3 Brain infarction Trichomegaly 1 1 FGF5 (5) 0.02703 1.00000 2.338e-3 3.242e-3 syndromic intellectual disability Verheij syndrome 1 1 PUF60 (3) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Xia-gibbs syndrome 1 1 AHDC1 (3) 0.02703 1.00000 2.338e-3 3.242e-3 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Ichthyosis vulgaris 1 1 FLG (2) 0.02703 1.00000 2.338e-3 3.242e-3 immune dysregulation, autoimmunity, and autoinflammation T-cell leukemia-lymphoma 1 1 PLCG1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Brain infarction immunodeficiency 122 1 1 POLD3 (2) 0.02703 1.00000 2.338e-3 3.242e-3 immunodeficiency 123 with hpv-related verrucosis T-cell leukemia-lymphoma 1 1 CD28 (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Intellectual developmental disorder dysmorphic cardiac short stature syndromic intellectual disability 1 1 PUF60 (3) 0.02703 1.00000 2.338e-3 3.242e-3 Intellectual developmental disorder dysmorphic seizures syndromic intellectual disability 1 1 OTUD6B (6) 0.02703 1.00000 2.338e-3 3.242e-3 Intellectual developmental disorder growth microcephaly syndromic intellectual disability 1 1 CTCF (2) 0.02703 1.00000 2.338e-3 3.242e-3 Intellectual developmental disorder growth other organ syndromic intellectual disability 1 1 PPM1D (3) 0.02703 1.00000 2.338e-3 3.242e-3 Intellectual disability with craniofacial dysmorphism and macrocephaly syndromic intellectual disability 1 1 H1-4 (2) 0.02703 1.00000 2.338e-3 3.242e-3 286 Intellectual disability, anterior maxillary protrusion, and strabismus syndromic intellectual disability 1 1 SOBP (3) 0.02703 1.00000 2.338e-3 3.242e-3 Isolated anhidrosis Smooth surface dental caries 1 1 ITPR2 (3) 0.02703 1.00000 2.338e-3 3.242e-3 isolated microphthalmia 6 Microphthalmos 1 1 PRSS56 (3) 0.02703 1.00000 2.338e-3 3.242e-3 52 KCNH1 associated disorder Smooth surface dental caries 1 1 KCNH1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 syndromic intellectual disability Zunich neuroectodermal syndrome 1 1 PIGL (3) 0.02703 1.00000 2.338e-3 3.242e-3 Brain infarction recombinase activating gene 1 deficiency 1 1 RAG1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Complete unilateral cleft lip Salivary gland agenesis 1 1 FGF10 (2) 0.02703 1.00000 2.338e-3 3.242e-3 genetic developmental and epileptic encephalopathy self-limited familial neonatal epilepsy 1 0 KCNQ3 (1) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-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 3.242e-3 Smooth surface dental caries Visceral acid sphingomyelinase deficiency 1 1 SMPD1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Smooth surface dental caries Temple-baraitser syndrome 1 1 KCNH1 (6) 0.02703 1.00000 2.338e-3 3.242e-3 Complex partial epilepsy genetic developmental and epileptic encephalopathy 1 1 SCN3A (3) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Congenital cerebellar hypoplasia 1 1 OXR1 (3) 0.02703 1.00000 2.338e-3 3.242e-3 Congenital cerebral hernia Emphysema 1 1 PIBF1 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Congenital heart defect, intellectual disability, facial dysmorphism syndrome syndromic intellectual disability 1 1 CDK13 (2) 0.02703 1.00000 2.338e-3 3.242e-3 286 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 3.242e-3 Diabetic macular edema Ocular hypotension 1 0 MRPL19 (1) 0.02703 1.00000 2.338e-3 3.242e-3 38 Diets-jongmans syndrome syndromic intellectual disability 1 1 KDM3B (5) 0.02703 1.00000 2.338e-3 3.242e-3 286 dilated cardiomyopathy 1BB Ventricular fibrillation 1 1 DSG2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 3 dilated cardiomyopathy 1HH Distal hereditary motor neuropathy 1 1 BAG3 (4) 0.02703 1.00000 2.338e-3 3.242e-3 dilated cardiomyopathy 1W Ventricular fibrillation 1 1 VCL (2) 0.02703 1.00000 2.338e-3 3.242e-3 Distal axonal motor neuropathy-myofibrillar myopathy syndrome Distal hereditary motor neuropathy 1 1 HSPB8 (6) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-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 3.242e-3 Cerebellar hypoplasia Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 1 0 VLDLR (1) 0.02703 1.00000 2.338e-3 3.242e-3 Brain infarction Cerebral arterial disease 1 0 ADGRE3 (1) 0.02703 1.00000 2.338e-3 3.242e-3 Charcot-Marie-Tooth disease axonal type 2F Distal hereditary motor neuropathy 1 1 HSPB1 (7) 0.02703 1.00000 2.338e-3 3.242e-3 Charcot-Marie-Tooth disease axonal type 2Z Distal hereditary motor neuropathy 1 1 MORC2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuropathy 1 1 GARS1 (7) 0.02703 1.00000 2.338e-3 3.242e-3 13 Chopra-amiel-gordon syndrome Smooth surface dental caries 1 1 ANKRD17 (5) 0.02703 1.00000 2.338e-3 3.242e-3 ciliary dyskinesia, primary, 47, and lissencephaly T-cell leukemia-lymphoma 1 1 TP73 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Cleft lip/palate-ectodermal dysplasia syndrome Complete unilateral cleft lip 1 1 NECTIN1 (6) 0.02703 1.00000 2.338e-3 3.242e-3 Cleft palate cardiac defects impaired intellectual development Learning disorders 1 1 MEIS2 (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Bosley-salih-alorainy syndrome syndromic intellectual disability 1 1 HOXA1 (3) 0.02703 1.00000 2.338e-3 3.242e-3 Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome syndromic intellectual disability 1 1 BPTF (2) 0.02703 1.00000 2.338e-3 3.242e-3 C syndrome Proliferative diabetic retinopathy 1 1 CD96 (7) 0.02703 1.00000 2.338e-3 3.242e-3 Cardiac and skeletal myopathy Ventricular fibrillation 1 1 ACTN2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 cardiomyopathy, dilated, 2e Ventricular fibrillation 1 1 JPH2 (2) 0.02703 1.00000 2.338e-3 3.242e-3 3 8q24.3 microdeletion syndrome syndromic intellectual disability 1 1 PUF60 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Acid sphingomyelinase deficiency Smooth surface dental caries 1 1 SMPD1 (3) 0.02703 1.00000 2.338e-3 3.242e-3 acute myeloid leukemia Emphysema 1 1 CEBPA (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 Antecubital pterygium syndrome Smooth surface dental caries 1 1 PSD3 (3) 0.02703 1.00000 2.338e-3 3.242e-3 Anterior maxillary protrusion-strabismus-intellectual disability syndrome syndromic intellectual disability 1 1 SOBP (3) 0.02703 1.00000 2.338e-3 3.242e-3 Aplasia of lacrimal and salivary glands Complete unilateral cleft lip 1 1 FGF10 (5) 0.02703 1.00000 2.338e-3 3.242e-3 Arboleda-tham syndrome syndromic intellectual disability 1 1 KAT6A (3) 0.02703 1.00000 2.338e-3 3.242e-3 286 Athabaskan brainstem dysgenesis syndromic intellectual disability 1 1 HOXA1 (5) 0.02703 1.00000 2.338e-3 3.242e-3 BBS9-related ciliopathy Smooth surface dental caries 1 1 BBS9 (2) 0.02703 1.00000 2.338e-3 3.242e-3 Congenital right-sided heart lesions Ventricular fibrillation 1 0 SLC27A6 (1) 0.02703 1.00000 2.338e-3 3.242e-3 3 Coq7-related distal hereditary motor neuropathy Distal hereditary motor neuropathy 1 1 COQ7 (5) 0.02703 1.00000 2.338e-3 3.242e-3 Coronary vessel anomalies Microphthalmos 1 1 GCLC (2) 0.02703 1.00000 2.338e-3 3.242e-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 3.242e-3 craniosynostosis 4 Ocular hypotension 1 1 ERF (2) 0.02703 1.00000 2.338e-3 3.242e-3 38 Cerebellar atrophy with seizures and variable developmental delay Gingival diseases 1 1 KCNMA1 (4) 0.08333 0.20000 2.271e-3 3.189e-3 Benign hereditary chorea Cerebellar atrophy with seizures and variable developmental delay 1 1 CACNA2D2 (4) 0.08333 0.20000 2.271e-3 3.189e-3 complex hereditary spastic paraplegia Paraplegia 1 1 VPS37A (2) 0.08333 0.20000 2.271e-3 3.189e-3 Autosomal recessive ataxia Emery-dreifuss muscular dystrophy 1 1 SYNE1 (7) 0.08333 0.20000 2.271e-3 3.189e-3 Bronchopneumonia Congenital cardiovascular anomaly 1 0 SERTM1 (1) 0.08333 0.20000 2.271e-3 3.189e-3 Graft versus host disease Pseudoxanthoma elasticum 1 1 XYLT1 (2) 0.08333 0.20000 2.271e-3 3.189e-3 Congenital deformity of clavicle Neuropathy, congenital hypomyelinating 1 1 CNTNAP1 (3) 0.08333 0.20000 2.271e-3 3.189e-3 Osteolysis Paget disease 1 1 TNFRSF11B (2) 0.08333 0.20000 2.271e-3 3.189e-3 Bronchiolitis obliterans Peritonitis 1 1 IFNG (2) 0.08333 0.20000 2.271e-3 3.189e-3 Glucose-6-phosphate dehydrogenase deficiency Peritonitis 1 1 IFNG (2) 0.08333 0.20000 2.271e-3 3.189e-3 12 17,20-lyase deficiency Ovarian cysts 1 1 CYP17A1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Ovarian cysts Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Growth disorder Pelviscapular dysplasia 1 1 TBX15 (5) 0.02778 1.00000 2.273e-3 3.189e-3 Ovarian cysts platelet-type bleeding disorder 12 1 1 PTGS1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Benign prostatic hyperplasia neurodevelopmental disorder with hypotonia, epilepsy, and absent speech 1 1 UNC13A (2) 0.02778 1.00000 2.273e-3 3.189e-3 neurodevelopmental disorder with microcephaly, ataxia, and seizures Primary microcephaly 1 1 SARS1 (3) 0.02778 1.00000 2.273e-3 3.189e-3 Benign prostatic hyperplasia neurodevelopmental disorder with speech delay, movement abnormalities, and seizures 1 1 UNC13A (2) 0.02778 1.00000 2.273e-3 3.189e-3 Esophageal adenocarcinoma occult macular dystrophy 1 1 RP1L1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Atrial septal defect renpenning syndrome 1 1 PQBP1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 41 Growth disorder renpenning syndrome 1 1 PQBP1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 41 Atrial septal defect Right hypoplastic heart syndrome 1 1 TBX20 (6) 0.02778 1.00000 2.273e-3 3.189e-3 41 Atrial septal defect Say meyer syndrome 1 0 HUWE1 (1) 0.02778 1.00000 2.273e-3 3.189e-3 Ovarian cysts Sleep deprivation 1 0 PTGS1 (1) 0.02778 1.00000 2.273e-3 3.189e-3 Atrial septal defect holt-oram syndrome 1 1 TBX5 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Hyperekplexia epilepsy syndrome X-linked complex neurodevelopmental disorder 1 1 ARHGEF9 (4) 0.02778 1.00000 2.273e-3 3.189e-3 129 microcephaly 2, primary, autosomal recessive, with or without cortical malformations Primary microcephaly 1 1 WDR62 (4) 0.02778 1.00000 2.273e-3 3.189e-3 microcephaly 26, primary, autosomal dominant Primary microcephaly 1 1 LMNB1 (4) 0.02778 1.00000 2.273e-3 3.189e-3 microcephaly with intellectual disability Primary microcephaly 1 1 MCPH1 (4) 0.02778 1.00000 2.273e-3 3.189e-3 microcephaly with or without short stature Primary microcephaly 1 1 CEP152 (4) 0.02778 1.00000 2.273e-3 3.189e-3 137 Growth disorder mosaic variegated aneuploidy syndrome 1 1 1 BUB1B (2) 0.02778 1.00000 2.273e-3 3.189e-3 Female restricted epilepsy with intellectual disability X-linked complex neurodevelopmental disorder 1 1 PCDH19 (3) 0.02778 1.00000 2.273e-3 3.189e-3 frank-ter haar syndrome Growth disorder 1 1 SH3PXD2B (2) 0.02778 1.00000 2.273e-3 3.189e-3 Primary microcephaly Trichiasis 1 1 MCM7 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Esophageal adenocarcinoma Ulnar-fibular ray defect and brachydactyly 1 1 RP1L1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Benign prostatic hyperplasia Ulnar-mammary syndrome 1 1 TBX3 (7) 0.02778 1.00000 2.273e-3 3.189e-3 Benign prostatic hyperplasia Uterine benign neoplasm 1 0 BET1L (1) 0.02778 1.00000 2.273e-3 3.189e-3 138 Ovarian cysts Vesiculobullous skin disease 1 1 PRKN (2) 0.02778 1.00000 2.273e-3 3.189e-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 3.189e-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 3.189e-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 3.189e-3 immunodeficiency, common variable, 12 Ovarian cysts 1 1 NFKB1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 immunodeficiency, common variable, 5 Ovarian cysts 1 1 MS4A1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 193 Benign prostatic hyperplasia Body skin hyperlaxity 1 1 GGCX (4) 0.02778 1.00000 2.273e-3 3.189e-3 Bosch-boonstra-schaaf optic atrophy syndrome Ovarian cysts 1 1 NR2F1 (5) 0.02778 1.00000 2.273e-3 3.189e-3 193 Cataract-growth hormone deficiency-skeletal dysplasia syndrome Ovarian cysts 1 1 IARS2 (5) 0.02778 1.00000 2.273e-3 3.189e-3 193 CBL-related disorder Growth disorder 1 1 CBL (2) 0.02778 1.00000 2.273e-3 3.189e-3 Benign prostatic hyperplasia Cerebellar vermis atrophy 1 1 SYN3 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Chops syndrome Growth disorder 1 1 AFF4 (3) 0.02778 1.00000 2.273e-3 3.189e-3 Benign prostatic hyperplasia Coronary vessel anomalies 1 1 GCLC (3) 0.02778 1.00000 2.273e-3 3.189e-3 Cousin syndrome Growth disorder 1 1 TBX15 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Demyelinating leukodystrophy Primary microcephaly 1 1 LMNB1 (4) 0.02778 1.00000 2.273e-3 3.189e-3 Atrial septal defect Dilatation of left cardiac ventricle 1 1 ACTC1 (5) 0.02778 1.00000 2.273e-3 3.189e-3 Atrial septal defect dilated cardiomyopathy 1R 1 1 ACTC1 (6) 0.02778 1.00000 2.273e-3 3.189e-3 Atrial septal defect dilated cardiomyopathy 1Y 1 1 TPM1 (2) 0.02778 1.00000 2.273e-3 3.189e-3 EEM syndrome Ovarian cysts 1 1 CDH3 (2) 0.02778 1.00000 2.273e-3 3.189e-3 Atrial septal defect Bafopathy 1 1 ACTL6A (3) 0.02778 1.00000 2.273e-3 3.189e-3 bamforth-lazarus syndrome Thyroid cancer 1 1 FOXE1 (3) 0.02778 1.00000 2.273e-3 3.189e-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 3.189e-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 3.189e-3 Congenital hypotrichosis with juvenile macular dystrophy Ovarian cysts 1 1 CDH3 (3) 0.02778 1.00000 2.273e-3 3.189e-3 Aarskog-scott syndrome, x-linked Growth disorder 1 1 FGD1 (3) 0.02778 1.00000 2.273e-3 3.189e-3 Acrocapitofemoral dysplasia Ovarian cysts 1 1 IHH (2) 0.02778 1.00000 2.273e-3 3.189e-3 amyotrophic lateral sclerosis type 9 Ovarian cysts 1 1 ANG (2) 0.02778 1.00000 2.273e-3 3.189e-3 193 Coronary aneurysm Schizoaffective disorder 2 0 CSMD1 (1), NRXN3 (1) 0.03077 0.06250 2.252e-3 3.173e-3 Asbestosis Cyclic neutropenia 1 1 CFD (2) 0.05263 0.50000 2.207e-3 3.111e-3 Complement component deficiency Cyclic neutropenia 1 1 CFD (3) 0.05263 0.50000 2.207e-3 3.111e-3 Congenital neutropenia Cyclic neutropenia 1 1 ELANE (5) 0.05263 0.50000 2.207e-3 3.111e-3 Dementia in huntington’s disease Prion disease 1 1 PRNP (3) 0.05263 0.50000 2.207e-3 3.111e-3 33 Blepharophimosis intellectual disability syndrome Coffin-siris syndrome 1 1 SMARCA2 (2) 0.05263 0.50000 2.207e-3 3.111e-3 Brachydactyly-elbow wrist dysplasia syndrome Micrognathism 1 1 PITX1 (2) 0.05263 0.50000 2.207e-3 3.111e-3 Bradyopsia Substance-induced psychosis 1 1 RGS9 (4) 0.05263 0.50000 2.207e-3 3.111e-3 Chromosome 2q32-q33 deletion syndrome Micrognathism 1 1 SATB2 (3) 0.05263 0.50000 2.207e-3 3.111e-3 197 Coats plus syndrome Toxic nodular goiter 1 1 STN1 (2) 0.05263 0.50000 2.207e-3 3.111e-3 Cochlear diseases Male reproductive organ cancer 1 1 PCDH15 (3) 0.05263 0.50000 2.207e-3 3.111e-3 Bronchiectasis Congenital bilateral absence of vas deferens 1 1 CFTR (6) 0.05263 0.50000 2.207e-3 3.111e-3 Asbestosis Dopamine beta-hydroxy­lase deficiency 1 1 HSPA5 (2) 0.05263 0.50000 2.207e-3 3.111e-3 Dysautonomia Gaucher disease 1 1 ELP1 (3) 0.05263 0.50000 2.207e-3 3.111e-3 Male reproductive organ cancer Paramyotonia congenita 1 1 SCN4A (5) 0.05263 0.50000 2.207e-3 3.111e-3 170 Gaucher disease Pyruvate kinase deficiency 1 0 PKLR (1) 0.05263 0.50000 2.207e-3 3.111e-3 Chondrodysplasia Refsum disease 1 1 PEX7 (3) 0.05263 0.50000 2.207e-3 3.111e-3 Coffin-siris syndrome Rhabdoid tumor 1 1 SMARCB1 (6) 0.05263 0.50000 2.207e-3 3.111e-3 299 Gaucher disease Parkinsonian-pyramidal syndrome 1 1 SNCA (3) 0.05263 0.50000 2.207e-3 3.111e-3 Parkinsonian-pyramidal syndrome Substance-induced psychosis 1 1 SNCA (2) 0.05263 0.50000 2.207e-3 3.111e-3 Complement component deficiency Periodontal ehlers-danlos syndrome 1 1 C1S (6) 0.05263 0.50000 2.207e-3 3.111e-3 Dentin dysplasia Peripheral pulmonary artery stenosis 1 0 DLX3 (1) 0.05263 0.50000 2.207e-3 3.111e-3 Atrioventricular block Post-operative myocardial infarction 1 0 FHIT (1) 0.05263 0.50000 2.207e-3 3.111e-3 Micrognathism non-severe combined immunodeficiency due to polymerase delta deficiency 1 1 POLD1 (2) 0.05263 0.50000 2.207e-3 3.111e-3 Hodgkin disease Hyper-immunoglobulin syndrome 1 1 CD40 (2) 0.05263 0.50000 2.207e-3 3.111e-3 Coffin-siris syndrome X-linked chondrodysplasia punctata 1 1 ARSL (5) 0.05263 0.50000 2.207e-3 3.111e-3 Fanconi-bickel syndrome Neonatal diabetes mellitus 1 1 SLC2A2 (5) 0.05263 0.50000 2.207e-3 3.111e-3 35 Female restricted epilepsy with intellectual disability Strabismus 1 1 PCDH19 (2) 0.02857 1.00000 2.208e-3 3.111e-3 focal segmental glomerulosclerosis 3, susceptibility to Genetic steroid-resistant nephrotic syndrome 1 1 CD2AP (2) 0.02857 1.00000 2.208e-3 3.111e-3 focal segmental glomerulosclerosis 3, susceptibility to Hereditary steroid-resistant nephrotic syndrome 1 1 CD2AP (2) 0.02857 1.00000 2.208e-3 3.111e-3 FOXG1 disorder Strabismus 1 1 FOXG1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Schizoaffective disorder 1 1 C9orf72 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 12 1 1 NUP93 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 12 1 1 NUP93 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 13 1 1 NUP205 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 13 1 1 NUP205 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 18 1 1 NUP133 (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 18 1 1 NUP133 (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 19 1 1 NUP160 (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 19 1 1 NUP160 (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 20 1 1 TBC1D8B (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 20 1 1 TBC1D8B (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 21 1 1 AVIL (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 21 1 1 AVIL (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 3 1 1 PLCE1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 3 1 1 PLCE1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 8 1 1 ARHGDIA (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Hereditary steroid-resistant nephrotic syndrome nephrotic syndrome, type 8 1 1 ARHGDIA (2) 0.02857 1.00000 2.208e-3 3.111e-3 20 Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment Strabismus 1 1 SLC9A6 (3) 0.02857 1.00000 2.208e-3 3.111e-3 neurodevelopmental disorder with severe motor impairment and absent language Strabismus 1 1 DHX30 (2) 0.02857 1.00000 2.208e-3 3.111e-3 287 Lymphocytic b-cell leukemia Sebaceous gland neoplasms 1 0 LEF1 (1) 0.02857 1.00000 2.208e-3 3.111e-3 Genetic steroid-resistant nephrotic syndrome idiopathic multidrug-resistant nephrotic syndrome 1 1 DAAM2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Hereditary steroid-resistant nephrotic syndrome idiopathic multidrug-resistant nephrotic syndrome 1 1 DAAM2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 immunodeficiency-centromeric instability-facial anomalies syndrome 3 Triple negative breast cancer 1 1 CDCA7 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Genetic steroid-resistant nephrotic syndrome inherited focal segmental glomerulosclerosis 1 1 CD2AP (2) 0.02857 1.00000 2.208e-3 3.111e-3 Hereditary steroid-resistant nephrotic syndrome inherited focal segmental glomerulosclerosis 1 1 CD2AP (2) 0.02857 1.00000 2.208e-3 3.111e-3 Intellectual developmental disorder microcephaly strabismus behaviora Strabismus 1 1 POGZ (3) 0.02857 1.00000 2.208e-3 3.111e-3 intellectual disability, autosomal dominant 42 Strabismus 1 1 GNB1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 krabbe disease Strabismus 1 1 GALC (2) 0.02857 1.00000 2.208e-3 3.111e-3 Malan syndrome Strabismus 1 1 NFIX (6) 0.02857 1.00000 2.208e-3 3.111e-3 287 marshall-smith syndrome Strabismus 1 1 NFIX (2) 0.02857 1.00000 2.208e-3 3.111e-3 287 pediatric systemic lupus erythematosus Schizoaffective disorder 1 1 SAT1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Panic disorder Pemphigus foliaceus 1 0 RAN (1) 0.02857 1.00000 2.208e-3 3.111e-3 2 Growth hormone deficiency TCF12-related craniosynostosis 1 1 TCF12 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Pituitary short stature TCF12-related craniosynostosis 1 1 TCF12 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Lymphocytic b-cell leukemia TFRC-related combined immunodeficiency 1 1 TFRC (2) 0.02857 1.00000 2.208e-3 3.111e-3 Strabismus Troyer syndrome 1 1 SPART (4) 0.02857 1.00000 2.208e-3 3.111e-3 Growth hormone deficiency Waardenburg syndrome type 4C 1 1 SOX10 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Genetic steroid-resistant nephrotic syndrome Woolly hair-palmoplantar keratoderma syndrome 1 1 KANK2 (3) 0.02857 1.00000 2.208e-3 3.111e-3 20 Hereditary steroid-resistant nephrotic syndrome Woolly hair-palmoplantar keratoderma syndrome 1 1 KANK2 (3) 0.02857 1.00000 2.208e-3 3.111e-3 20 Growth hormone deficiency X-linked agammaglobulinemia 1 1 BTK (3) 0.02857 1.00000 2.208e-3 3.111e-3 Pituitary short stature X-linked agammaglobulinemia 1 1 BTK (3) 0.02857 1.00000 2.208e-3 3.111e-3 Growth hormone deficiency X-linked hypogammaglobulinemia 1 0 BTK (1) 0.02857 1.00000 2.208e-3 3.111e-3 Pituitary short stature X-linked hypogammaglobulinemia 1 0 BTK (1) 0.02857 1.00000 2.208e-3 3.111e-3 Growth hormone deficiency Yemenite deaf-blind hypopigmentation syndrome 1 0 SOX10 (1) 0.02857 1.00000 2.208e-3 3.111e-3 Groenouw corneal dystrophy Sepsis 1 1 TGFBI (3) 0.02857 1.00000 2.208e-3 3.111e-3 HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome Sepsis 1 1 HMGB1 (3) 0.02857 1.00000 2.208e-3 3.111e-3 Growth hormone deficiency hypogonadotropic hypogonadism 1 with or without anosmia 1 1 ANOS1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 hypogonadotropic hypogonadism 1 with or without anosmia Pituitary short stature 1 1 ANOS1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 hypogonadotropic hypogonadism 1 with or without anosmia Sheehan syndrome 1 1 ANOS1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Growth hormone deficiency hypogonadotropic hypogonadism 3 with or without anosmia 1 1 PROKR2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 hypogonadotropic hypogonadism 3 with or without anosmia Pituitary short stature 1 1 PROKR2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Growth hormone deficiency hypogonadotropic hypogonadism 4 with or without anosmia 1 1 PROK2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 58 hypogonadotropic hypogonadism 4 with or without anosmia Pituitary short stature 1 1 PROK2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 58 hypogonadotropic hypogonadism 4 with or without anosmia Sheehan syndrome 1 1 PROK2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 58 Developmental delay with facial dysmorphism syndrome Strabismus 1 1 MED13L (2) 0.02857 1.00000 2.208e-3 3.111e-3 Dna2-related mitochondrial dna deletion syndrome Growth hormone deficiency 1 1 DNA2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Dna2-related mitochondrial dna deletion syndrome Pituitary short stature 1 1 DNA2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Dock2 deficiency Triple negative breast cancer 1 1 DOCK2 (4) 0.02857 1.00000 2.208e-3 3.111e-3 Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome Sepsis 1 1 HMGB1 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Brunet-wagner neurodevelopmental syndrome Lymphocytic b-cell leukemia 1 1 RBL2 (5) 0.02857 1.00000 2.208e-3 3.111e-3 Brunner syndrome Panic disorder 1 1 MAOA (5) 0.02857 1.00000 2.208e-3 3.111e-3 Bruton type agammaglobulinemia Growth hormone deficiency 1 1 BTK (4) 0.02857 1.00000 2.208e-3 3.111e-3 Bruton type agammaglobulinemia Pituitary short stature 1 1 BTK (4) 0.02857 1.00000 2.208e-3 3.111e-3 Cardiac anomalies - developmental delay - facial dysmorphism syndrome Strabismus 1 1 MED13L (3) 0.02857 1.00000 2.208e-3 3.111e-3 19p13.3 microduplication syndrome Strabismus 1 1 NFIX (2) 0.02857 1.00000 2.208e-3 3.111e-3 287 Congenital nephrotic syndrome Genetic steroid-resistant nephrotic syndrome 1 1 NPHS1 (4) 0.02857 1.00000 2.208e-3 3.111e-3 Congenital nephrotic syndrome Hereditary steroid-resistant nephrotic syndrome 1 1 NPHS1 (3) 0.02857 1.00000 2.208e-3 3.111e-3 Cryptogenic multifocal ulcerous stenosing enteritis Schizoaffective disorder 1 1 PLA2G4A (2) 0.02857 1.00000 2.208e-3 3.111e-3 Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder Schizoaffective disorder 1 1 PLA2G4A (5) 0.02857 1.00000 2.208e-3 3.111e-3 Deaf blind hypopigmentation syndrome Growth hormone deficiency 1 1 SOX10 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Congenital cranial dysinnervation disorder Schizoaffective disorder 1 1 NEUROG1 (3) 0.02857 1.00000 2.208e-3 3.111e-3 Charcot-Marie-Tooth disease dominant intermediate E Genetic steroid-resistant nephrotic syndrome 1 1 INF2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Charcot-Marie-Tooth disease dominant intermediate E Hereditary steroid-resistant nephrotic syndrome 1 1 INF2 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Christianson syndrome Strabismus 1 1 SLC9A6 (5) 0.02857 1.00000 2.208e-3 3.111e-3 Autoinflammation, antibody deficiency, and immune dysregulation Lymphocytic b-cell leukemia 1 1 PLCG2 (5) 0.02857 1.00000 2.208e-3 3.111e-3 Avellino corneal dystrophy Sepsis 1 1 TGFBI (3) 0.02857 1.00000 2.208e-3 3.111e-3 bardet-biedl syndrome 16 Schizoaffective disorder 1 1 SDCCAG8 (2) 0.02857 1.00000 2.208e-3 3.111e-3 Congenital disorder of glycosylation Myasthenic syndrome 3 3 ALG2 (4), ALG14 (4), DPAGT1 (6) 0.02190 0.07500 2.143e-3 3.042e-3 5 Concentric hypertrophic cardiomyopathy Short qt syndrome 1 1 CACNA1C (3) 0.07143 0.33333 2.142e-3 3.042e-3 Arterial tortuosity syndrome Auditory system disease 1 1 SLC2A10 (7) 0.07143 0.33333 2.142e-3 3.042e-3 Benign mucous membrane pemphigoid with ocular involvement Congenital pulmonary artery atresia 1 0 HLA-DRB1 (1) 0.07143 0.33333 2.142e-3 3.042e-3 Bouillaud’s disease Congenital pulmonary artery atresia 1 0 HLA-DRB1 (1) 0.07143 0.33333 2.142e-3 3.042e-3 Central precocious puberty Estrogen resistance 1 1 ESR1 (6) 0.07143 0.33333 2.142e-3 3.042e-3 Cleidocranial dysplasia Diffuse idiopathic skeletal hyperostosis 1 1 SUPT3H (2) 0.07143 0.33333 2.142e-3 3.042e-3 Hyperphosphatasia with intellectual disability syndrome Intellectual developmental disorder dysmorphic facial 1 1 SETD5 (3) 0.07143 0.33333 2.142e-3 3.042e-3 355 Central serous retinopathy Throat disease 1 0 GATA5 (1) 0.07143 0.33333 2.142e-3 3.042e-3 32 Heparin cofactor 2 deficiency Post-operative acute kidney injury 1 1 EIF4G3 (2) 0.07143 0.33333 2.142e-3 3.042e-3 Parkinson-dementia syndrome Temporal lobe epilepsy 1 1 MAPT (2) 0.02941 1.00000 2.143e-3 3.042e-3 PROM1-related dominant retinopathy Transitional cell carcinoma 1 1 PROM1 (2) 0.02941 1.00000 2.143e-3 3.042e-3 PROM1-related recessive retinopathy Transitional cell carcinoma 1 1 PROM1 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Hyperkinesia Prostatic disease 1 1 OXT (2) 0.02941 1.00000 2.143e-3 3.042e-3 Hemolytic uremic syndrome hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature 1 1 C1GALT1C1 (5) 0.02941 1.00000 2.143e-3 3.042e-3 32 hereditary fructose intolerance Hypoxia 1 1 ALDOB (2) 0.02941 1.00000 2.143e-3 3.042e-3 23 Hyperthermia Transitional cell carcinoma 1 0 GPX1 (1) 0.02941 1.00000 2.143e-3 3.042e-3 Osteochondrodysplasias radioulnar synostosis with amegakaryocytic thrombocytopenia 1 1 1 HOXA11 (3) 0.02941 1.00000 2.143e-3 3.042e-3 retinitis pigmentosa 47 Uveitis 1 1 SAG (3) 0.02941 1.00000 2.143e-3 3.042e-3 Osteochondrodysplasias Rhizomelic dysplasia, ain-naz type 1 1 GNPNAT1 (3) 0.02941 1.00000 2.143e-3 3.042e-3 44 Hypoxia Sarcosine dehydrogenase deficiency 1 1 SARDH (2) 0.02941 1.00000 2.143e-3 3.042e-3 Hypoxia Sarcosinemia 1 1 SARDH (5) 0.02941 1.00000 2.143e-3 3.042e-3 Hemolytic uremic syndrome schimke immuno-osseous dysplasia 1 1 SMARCAL1 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Osteochondrodysplasias Schmid metaphyseal chondrodysplasia 1 1 COL10A1 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Chloracne Sebocystomatosis 1 1 KRT17 (4) 0.02941 1.00000 2.143e-3 3.042e-3 Colitis severe combined immunodeficiency due to CARMIL2 deficiency 1 1 CARMIL2 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Jeune thoracic dystrophy short-rib thoracic dysplasia 11 with or without polydactyly 1 1 DYNC2I2 (2) 0.02941 1.00000 2.143e-3 3.042e-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 3.042e-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 3.042e-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 3.042e-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 3.042e-3 19 Rod-cone dystrophy SNRNP200-related dominant retinopathy 1 1 SNRNP200 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Colitis sorsby fundus dystrophy 1 1 TIMP3 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Osteochondrodysplasias Stickler syndrome, type 4 1 1 COL9A1 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Bronchitis Expressive language delay 1 1 KLF7 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Familial telangiectasia cancer syndrome Sarcoma 1 1 ATR (3) 0.02941 1.00000 2.143e-3 3.042e-3 Fanconi anemia complementation group C Peripheral vascular disease 1 1 FANCC (2) 0.02941 1.00000 2.143e-3 3.042e-3 GNPTG-mucolipidosis Rod-cone dystrophy 1 1 GNPTG (2) 0.02941 1.00000 2.143e-3 3.042e-3 Jeune thoracic dystrophy nephronophthisis 12 1 1 TTC21B (2) 0.02941 1.00000 2.143e-3 3.042e-3 19 Bronchitis Neurodevelopmental disorder with dilated cardiomyopathy 1 1 CAMK2D (2) 0.02941 1.00000 2.143e-3 3.042e-3 Hyperkinesia neurodevelopmental disorder with language impairment and behavioral abnormalities 1 1 GRIA2 (3) 0.02941 1.00000 2.143e-3 3.042e-3 66 obsolete Stüve-Wiedemann syndrome Osteochondrodysplasias 1 1 LIFR (2) 0.02941 1.00000 2.143e-3 3.042e-3 Jeune thoracic dystrophy orofaciodigital syndrome type 14 1 1 C2CD3 (2) 0.02941 1.00000 2.143e-3 3.042e-3 MCM9-related gametogenic failure Testicular azoospermia 1 1 MCM9 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Hemolytic uremic syndrome membranoproliferative glomerulonephritis 1 1 DGKE (5) 0.02941 1.00000 2.143e-3 3.042e-3 microphthalmia, syndromic 2 Sarcoma 1 1 BCOR (2) 0.02941 1.00000 2.143e-3 3.042e-3 Chloracne thrombocytopenia 4 1 1 CYCS (3) 0.02941 1.00000 2.143e-3 3.042e-3 Colitis thrombocytopenia 6 1 1 SRC (3) 0.02941 1.00000 2.143e-3 3.042e-3 43 Hemolytic uremic syndrome Thrombomodulin-related bleeding disorder 1 1 THBD (6) 0.02941 1.00000 2.143e-3 3.042e-3 Hemolytic uremic syndrome Upshaw-schulman syndrome 1 1 ADAMTS13 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Chloracne Uridine monophosphate hydrolase deficiency 1 1 NT5C3A (2) 0.02941 1.00000 2.143e-3 3.042e-3 Bronchitis Urinary bladder dysfunction 1 1 CHRNA3 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Peripheral vascular disease Urinary bladder dysfunction 1 1 CHRNA3 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Hypoxia Wernicke encephalopathy 1 1 TKT (2) 0.02941 1.00000 2.143e-3 3.042e-3 23 Transitional cell carcinoma Xq25 microduplication syndrome 1 1 STAG2 (4) 0.02941 1.00000 2.143e-3 3.042e-3 Bronchitis Young syndrome 1 1 CFAP221 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Chloracne immunodeficiency 123 with hpv-related verrucosis 1 1 CD28 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Colitis inflammatory skin and bowel disease, neonatal, 1 1 1 ADAM17 (3) 0.02941 1.00000 2.143e-3 3.042e-3 43 Intellectual developmental disorder with retinitis pigmentosa Rod-cone dystrophy 1 1 SCAPER (4) 0.02941 1.00000 2.143e-3 3.042e-3 INTU-related skeletal ciliopathy Jeune thoracic dystrophy 1 1 INTU (2) 0.02941 1.00000 2.143e-3 3.042e-3 19 joubert syndrome 21 Meckel-gruber syndrome 1 1 CSPP1 (4) 0.02941 1.00000 2.143e-3 3.042e-3 8 joubert syndrome 24 Meckel-gruber syndrome 1 1 TCTN2 (6) 0.02941 1.00000 2.143e-3 3.042e-3 8 joubert syndrome 3 Rod-cone dystrophy 1 1 AHI1 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Cervical dystonia Sarcoma 1 0 CIZ1 (1) 0.02941 1.00000 2.143e-3 3.042e-3 Chondromyxoid fibroma Temporal lobe epilepsy 1 1 GRM1 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Chromosome 16p13.3 deletion syndrome Transitional cell carcinoma 1 1 CREBBP (2) 0.02941 1.00000 2.143e-3 3.042e-3 Chromosome 5q deletion syndrome Hypoxia 1 1 RPS14 (2) 0.02941 1.00000 2.143e-3 3.042e-3 23 Chromosome xq25 duplication syndrome Transitional cell carcinoma 1 1 STAG2 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Adenosine kinase deficiency Hypoxia 1 1 ADK (3) 0.02941 1.00000 2.143e-3 3.042e-3 AFG3L2-related optic atrophy and/or spastic ataxia spectrum Hyperkinesia 1 1 AFG3L2 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Anus neoplasms Transitional cell carcinoma 1 0 IFNB1 (1) 0.02941 1.00000 2.143e-3 3.042e-3 4 Developmental delay with or without epilepsy Jeune thoracic dystrophy 1 1 SPTAN1 (3) 0.02941 1.00000 2.143e-3 3.042e-3 19 Dicarboxylic aminoaciduria Temporal lobe epilepsy 1 1 SLC1A1 (7) 0.02941 1.00000 2.143e-3 3.042e-3 Dicarboxylicaminoaciduria Temporal lobe epilepsy 1 1 SLC1A1 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Dyggve-melchior-clausen syndrome Osteochondrodysplasias 1 1 DYM (5) 0.02941 1.00000 2.143e-3 3.042e-3 Chloracne dyskeratosis congenita and related telomere biology disorder 1 1 RPA1 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Early-onset obesity-hyperphagia-severe developmental delay syndrome Hyperkinesia 1 1 NTRK2 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Hyperkinesia 1 1 AFG3L2 (2) 0.02941 1.00000 2.143e-3 3.042e-3 Bladder dysfunction Bronchitis 1 1 CHRNA3 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Bladder dysfunction Peripheral vascular disease 1 1 CHRNA3 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Bone dysplasia with increased bone density Osteochondrodysplasias 1 1 SOST (2) 0.02941 1.00000 2.143e-3 3.042e-3 Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome Sarcoma 1 1 BPTF (2) 0.02941 1.00000 2.143e-3 3.042e-3 Cortical dysplasia-focal epilepsy syndrome Hyperkinesia 1 1 CNTNAP2 (4) 0.02941 1.00000 2.143e-3 3.042e-3 Delpire-mcneill syndrome Temporal lobe epilepsy 1 1 SLC12A2 (4) 0.02941 1.00000 2.143e-3 3.042e-3 Comp-related skeletal dysplasia Osteochondrodysplasias 1 1 COMP (3) 0.02941 1.00000 2.143e-3 3.042e-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 3.042e-3 Congenital limbs-face contractures-hypotonia-developmental delay syndrome Temporal lobe epilepsy 1 1 NALCN (2) 0.02941 1.00000 2.143e-3 3.042e-3 atypical hemolytic-uremic syndrome with DGKE deficiency Hemolytic uremic syndrome 1 1 DGKE (5) 0.02941 1.00000 2.143e-3 3.042e-3 Benign mesial temporal lobe epilepsy Temporal lobe epilepsy 1 1 CPA6 (3) 0.02941 1.00000 2.143e-3 3.042e-3 Chromosomal instability Houge janssens syndrome 1 1 PPP2R5C (2) 0.08333 0.25000 2.077e-3 2.968e-3 3-methylglutaconic aciduria Microcytic anemia 1 1 CLPB (2) 0.08333 0.25000 2.077e-3 2.968e-3 B-cell chronic lymphocytic leukemia Bowen’s disease 1 1 CCND1 (2) 0.08333 0.25000 2.077e-3 2.968e-3 Connective tissue neoplasm Coronary syndrome 1 0 LPL (1) 0.08333 0.25000 2.077e-3 2.968e-3 Congenital fusion of ribs Jarcho-levin syndrome 1 0 DLL3 (1) 0.08333 0.25000 2.077e-3 2.968e-3 Dysphoric mood Jarcho-levin syndrome 1 0 DLL3 (1) 0.08333 0.25000 2.077e-3 2.968e-3 Hereditary chronic pancreatitis Obstructive azoospermia 1 1 CFTR (2) 0.08333 0.25000 2.077e-3 2.968e-3 Paraganglioma Skeletal muscle disorder 1 0 SDHA (1) 0.08333 0.25000 2.077e-3 2.968e-3 78 Congenital hypothyroidism due to absence of thyroid gland Spermatocele 1 1 PAX8 (2) 0.08333 0.25000 2.077e-3 2.968e-3 102 Congenital fusion of ribs Spondylocostal dysostosis 1 1 DLL3 (5) 0.08333 0.25000 2.077e-3 2.968e-3 Dysphoric mood Spondylocostal dysostosis 1 1 DLL3 (5) 0.08333 0.25000 2.077e-3 2.968e-3 Epilepsy with auditory features Familial focal epilepsy with variable foci 1 1 DEPDC5 (4) 0.08333 0.25000 2.077e-3 2.968e-3 Factor viii deficiency Hemophilia a 1 1 F8 (6) 0.05556 0.50000 2.077e-3 2.968e-3 Fetal erythroblastosis Hemophilia a 1 0 FCGR2A (1) 0.05556 0.50000 2.077e-3 2.968e-3 36 Sweet syndrome Vacterl association 1 1 PTPN6 (2) 0.05556 0.50000 2.077e-3 2.968e-3 Intellectual developmental disorder dysmorphic cerebellar Mitochondrial encephalomyopathy 1 0 CYTB (1) 0.05556 0.50000 2.077e-3 2.968e-3 Distal arthrogryposis Intestinal polyposis 1 1 STK11 (2) 0.05556 0.50000 2.077e-3 2.968e-3 Autoimmune neurological syndrome Periapical periodontitis 1 0 SLC8A1 (1) 0.05556 0.50000 2.077e-3 2.968e-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 2.968e-3 Dentinogenesis imperfecta Peripheral pulmonary artery stenosis 1 0 DLX3 (1) 0.05556 0.50000 2.077e-3 2.968e-3 Congenital anomaly of limb Omodysplasia 1 1 GPC6 (6) 0.05556 0.50000 2.077e-3 2.968e-3 Congenital anomaly of limb Townes-brocks syndrome 1 1 SALL1 (7) 0.05556 0.50000 2.077e-3 2.968e-3 Townes-brocks syndrome Vacterl association 1 1 SALL1 (7) 0.05556 0.50000 2.077e-3 2.968e-3 Catalepsy Tyrosine hydroxylase–deficient dopa-responsive dystonia 1 1 TH (3) 0.05556 0.50000 2.077e-3 2.968e-3 Lymphedema Van maldergem syndrome 1 1 DCHS1 (6) 0.05556 0.50000 2.077e-3 2.968e-3 Gliosarcoma Mountain sickness 1 1 TACC1 (2) 0.05556 0.50000 2.077e-3 2.968e-3 Congenital radioulnar synostosis Loeys-dietz syndrome 1 1 SMAD6 (2) 0.05556 0.50000 2.077e-3 2.968e-3 Cerebrofacioarticular syndrome Lymphedema 1 1 DCHS1 (2) 0.05556 0.50000 2.077e-3 2.968e-3 Diffuse gastric adenocarcinoma Oculoauricular syndrome 1 1 HMX1 (7) 0.05556 0.50000 2.077e-3 2.968e-3 Dopamine beta-hydroxy­lase deficiency Pheochromocytoma 1 1 DBH (3) 0.05556 0.50000 2.077e-3 2.968e-3 Duane-radial ray syndrome Loeys-dietz syndrome 1 1 IPO8 (2) 0.05556 0.50000 2.077e-3 2.968e-3 Combined deficiency of factor v and factor viii Hemophilia a 1 1 LMAN1 (3) 0.05556 0.50000 2.077e-3 2.968e-3 Combined factor v and factor viii deficiency Hemophilia a 1 1 LMAN1 (6) 0.05556 0.50000 2.077e-3 2.968e-3 Congenital lamellar cataract Congenital total cataract 1 0 HSF4 (1) 0.05556 0.50000 2.077e-3 2.968e-3 51 Colorectal adenomatous polyposis Hereditary breast cancer 1 1 MUTYH (2) 0.03030 1.00000 2.078e-3 2.968e-3 Congenital cornea plana Corneal dystrophy 1 1 KERA (2) 0.03030 1.00000 2.078e-3 2.968e-3 Congenital hypotrichosis with juvenile macular dystrophy Ectodermal dysplasia 1 1 CDH3 (5) 0.03030 1.00000 2.078e-3 2.968e-3 Congenital malformation of cornea Corneal dystrophy 1 0 KERA (1) 0.03030 1.00000 2.078e-3 2.968e-3 Chromodomain helicase dna binding protein 8 overgrowth syndrome Gastrointestinal disease 1 1 CHD8 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Chromosome 5q12 deletion syndrome Esophageal atresia 1 0 PDE4D (1) 0.03030 1.00000 2.078e-3 2.968e-3 Cleft lip/palate-ectodermal dysplasia syndrome Ectodermal dysplasia 1 1 NECTIN1 (6) 0.03030 1.00000 2.078e-3 2.968e-3 COG6-congenital disorder of glycosylation Polyarticular juvenile idiopathic arthritis 1 1 COG6 (2) 0.03030 1.00000 2.078e-3 2.968e-3 320 congenital myasthenic syndrome 2A Corneal dystrophy 1 1 CHRNB1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 congenital myasthenic syndrome 2C Corneal dystrophy 1 1 CHRNB1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Congenital prekallikrein deficiency Corneal dystrophy 1 1 KLKB1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Congenital tufting enteropathy Hereditary breast cancer 1 1 EPCAM (2) 0.03030 1.00000 2.078e-3 2.968e-3 Cornea plana Corneal dystrophy 1 1 KERA (5) 0.03030 1.00000 2.078e-3 2.968e-3 Coronary aneurysm Intellectual developmental disorder expressive speech dysmorphic 1 1 SETBP1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 341 Coronary aneurysm Schinzel-Giedion syndrome 1 1 SETBP1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 341 Coronary aneurysm Palmoplantar keratoderma with congenital alopecia 1 1 GJA1 (5) 0.03030 1.00000 2.078e-3 2.968e-3 Curly hair ankyloblepharon nail dysplasia syndrome Ectodermal dysplasia 1 1 RIPK4 (3) 0.03030 1.00000 2.078e-3 2.968e-3 Autoimmune enteropathy and endocrinopathy Polyarticular juvenile idiopathic arthritis 1 1 STAT1 (4) 0.03030 1.00000 2.078e-3 2.968e-3 Avellino corneal dystrophy Corneal dystrophy 1 1 TGFBI (4) 0.03030 1.00000 2.078e-3 2.968e-3 BARD1-related cancer predisposition Hereditary breast cancer 1 1 BARD1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 39 Aplastic anemia diamond-blackfan anemia 6 1 1 RPL5 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Coronary aneurysm Dock2 deficiency 1 1 DOCK2 (4) 0.03030 1.00000 2.078e-3 2.968e-3 341 Dubin-johnson syndrome Gastrointestinal disease 1 1 ABCC2 (5) 0.03030 1.00000 2.078e-3 2.968e-3 Ectodermal dysplasia ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 1 1 EDAR (5) 0.03030 1.00000 2.078e-3 2.968e-3 76 Ectodermal dysplasia ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 1 1 KDF1 (6) 0.03030 1.00000 2.078e-3 2.968e-3 76 Ectodermal dysplasia ectodermal dysplasia WNT10A related 1 1 WNT10A (2) 0.03030 1.00000 2.078e-3 2.968e-3 Ectodermal dysplasia EEM syndrome 1 1 CDH3 (4) 0.03030 1.00000 2.078e-3 2.968e-3 Brainstem atrophy Corneal dystrophy 1 1 MCOLN1 (3) 0.03030 1.00000 2.078e-3 2.968e-3 12p12.1 microdeletion syndrome Azoospermia 1 1 SOX5 (3) 0.03030 1.00000 2.078e-3 2.968e-3 Absence of fingerprints-congenital milia syndrome Ectodermal dysplasia 1 1 SMARCAD1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 76 amyotrophic lateral sclerosis, susceptibility to, 24 Orofaciodigital syndrome 1 1 NEK1 (4) 0.03030 1.00000 2.078e-3 2.968e-3 Anhidrotic ectodermal dysplasia Ectodermal dysplasia 1 1 EDA (3) 0.03030 1.00000 2.078e-3 2.968e-3 76 Coronary aneurysm MAN1B1-congenital disorder of glycosylation 1 1 MAN1B1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 megalencephaly-polydactyly syndrome Wilms tumor 1 1 MYCN (2) 0.03030 1.00000 2.078e-3 2.968e-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 2.968e-3 Hereditary breast cancer microcephaly with intellectual disability 1 1 MCPH1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 microphthalmia, syndromic 2 Wilms tumor 1 1 BCOR (2) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia mucopolysaccharidosis type 2 1 1 IDS (2) 0.03030 1.00000 2.078e-3 2.968e-3 Hereditary breast cancer PALB2-related cancer predisposition 1 1 PALB2 (3) 0.03030 1.00000 2.078e-3 2.968e-3 Ectodermal dysplasia Papillon-lefevre syndrome 1 1 CTSC (7) 0.03030 1.00000 2.078e-3 2.968e-3 Polydactyly-macrocephaly syndrome Wilms tumor 1 1 MAX (5) 0.03030 1.00000 2.078e-3 2.968e-3 protein S deficiency Thrombophilia 1 1 PROS1 (6) 0.03030 1.00000 2.078e-3 2.968e-3 Ectodermal dysplasia Schopf-schulz-passarge syndrome 1 1 WNT10A (4) 0.03030 1.00000 2.078e-3 2.968e-3 Ectodermal dysplasia Sebaceous gland neoplasms 1 1 LEF1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Ectodermal dysplasia Sebocystomatosis 1 1 KRT17 (3) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia Severe neonatal spondylometaphyseal dysplasia 1 1 SBDS (4) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia Short telomere syndrome 1 1 ACD (4) 0.03030 1.00000 2.078e-3 2.968e-3 Shukla-vernon syndrome Wilms tumor 1 1 BCORL1 (5) 0.03030 1.00000 2.078e-3 2.968e-3 81 Ectodermal dysplasia familial acute necrotizing encephalopathy 1 1 RANBP2 (2) 0.03030 1.00000 2.078e-3 2.968e-3 familial ovarian cancer Hereditary breast cancer 1 1 BRIP1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia FANCM Fanconi-like genomic instability disorder 1 1 FANCM (2) 0.03030 1.00000 2.078e-3 2.968e-3 Azoospermia FANCM Fanconi-like genomic instability disorder 1 1 FANCM (2) 0.03030 1.00000 2.078e-3 2.968e-3 FANCM Fanconi-like genomic instability disorder Hereditary breast cancer 1 1 FANCM (2) 0.03030 1.00000 2.078e-3 2.968e-3 fanconi anemia complementation group j Hereditary breast cancer 1 1 BRIP1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 fanconi anemia complementation group n Hereditary breast cancer 1 1 PALB2 (3) 0.03030 1.00000 2.078e-3 2.968e-3 fanconi anemia complementation group p Hereditary breast cancer 1 0 SLX4 (1) 0.03030 1.00000 2.078e-3 2.968e-3 39 Fanconi anemia complementation group U Hereditary breast cancer 1 1 XRCC2 (2) 0.03030 1.00000 2.078e-3 2.968e-3 39 Gallbladder agenesis Wilms tumor 1 1 MYCN (2) 0.03030 1.00000 2.078e-3 2.968e-3 Corneal dystrophy gapo syndrome 1 1 ANTXR1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia Genetic lipodystrophy 1 0 EPHX1 (1) 0.03030 1.00000 2.078e-3 2.968e-3 Esophageal atresia Genetic syndromic pierre robin syndrome 1 0 EFTUD2 (1) 0.03030 1.00000 2.078e-3 2.968e-3 Corneal dystrophy Groenouw corneal dystrophy 1 1 TGFBI (4) 0.03030 1.00000 2.078e-3 2.968e-3 Corneal dystrophy Growth retardation, alopecia, pseudoanodontia and optic atrophy 1 1 ANTXR1 (3) 0.03030 1.00000 2.078e-3 2.968e-3 Heart defect, tongue hamartoma and polysyndactyly Orofaciodigital syndrome 1 1 WDPCP (4) 0.03030 1.00000 2.078e-3 2.968e-3 8 Hemophilia a carriers Thrombophilia 1 1 F8 (5) 0.03030 1.00000 2.078e-3 2.968e-3 Hemophilia b carriers Thrombophilia 1 1 F9 (7) 0.03030 1.00000 2.078e-3 2.968e-3 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Thrombophilia 1 1 HRG (4) 0.03030 1.00000 2.078e-3 2.968e-3 36 hyper-IgE recurrent infection syndrome 5, autosomal recessive Polyarticular juvenile idiopathic arthritis 1 1 IL6R (2) 0.03030 1.00000 2.078e-3 2.968e-3 IL21-related infantile inflammatory bowel disease Polyarticular juvenile idiopathic arthritis 1 1 IL21 (2) 0.03030 1.00000 2.078e-3 2.968e-3 immunodeficiency 25 Polyarticular juvenile idiopathic arthritis 1 1 CD247 (3) 0.03030 1.00000 2.078e-3 2.968e-3 immunodeficiency 31b Polyarticular juvenile idiopathic arthritis 1 1 STAT1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 immunodeficiency 63 with lymphoproliferation and autoimmunity Polyarticular juvenile idiopathic arthritis 1 1 IL2RB (3) 0.03030 1.00000 2.078e-3 2.968e-3 Corneal dystrophy inherited prekallikrein deficiency 1 1 KLKB1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Interleukin 6 quantitative trait Polyarticular juvenile idiopathic arthritis 1 1 IL6R (3) 0.03030 1.00000 2.078e-3 2.968e-3 INTU-related skeletal ciliopathy Orofaciodigital syndrome 1 1 INTU (5) 0.03030 1.00000 2.078e-3 2.968e-3 joubert syndrome 17 Orofaciodigital syndrome 1 1 CPLANE1 (7) 0.03030 1.00000 2.078e-3 2.968e-3 Azoospermia lamb-shaffer syndrome 1 1 SOX5 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Thrombomodulin-related bleeding disorder Thrombophilia 1 1 THBD (7) 0.03030 1.00000 2.078e-3 2.968e-3 36 Thrombophilia thrombophilia, X-linked, due to factor 9 defect 1 1 F9 (6) 0.03030 1.00000 2.078e-3 2.968e-3 Orofaciodigital syndrome TOPORS-related retinopathy 1 1 TOPORS (3) 0.03030 1.00000 2.078e-3 2.968e-3 Polyarticular juvenile idiopathic arthritis Tyrosine kinase 2 deficiency 1 1 TYK2 (3) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia Van esch-o’driscoll syndrome 1 1 POLA1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia White blood cell count quantitative trait locus 1 1 ACKR1 (2) 0.03030 1.00000 2.078e-3 2.968e-3 77 Aplastic anemia X-linked reticulate pigmentary disorder 1 1 POLA1 (5) 0.03030 1.00000 2.078e-3 2.968e-3 Nasodigitoacoustic syndrome Wilms tumor 1 1 GPC4 (4) 0.03030 1.00000 2.078e-3 2.968e-3 Aplastic anemia nijmegen breakage syndrome 1 1 NBN (6) 0.03030 1.00000 2.078e-3 2.968e-3 Hereditary breast cancer nijmegen breakage syndrome 1 0 NBN (1) 0.03030 1.00000 2.078e-3 2.968e-3 39 Orofaciodigital syndrome orofaciodigital syndrome type 14 1 1 C2CD3 (6) 0.03030 1.00000 2.078e-3 2.968e-3 8 Neurodegeneration peripheral neuropathy syndrome Neuronal ceroid lipofuscinosis 1 1 CLCN6 (2) 0.03125 1.00000 2.013e-3 2.899e-3 neurodegeneration, childhood-onset, with cerebellar atrophy Pontocerebellar hypoplasia 1 1 AGTPBP1 (3) 0.03125 1.00000 2.013e-3 2.899e-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 2.899e-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 2.899e-3 Distal spinal muscular atrophy neuronopathy, distal hereditary motor, autosomal dominant 1 1 HSPB8 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Distal spinal muscular atrophy neuronopathy, distal hereditary motor, type 7A 1 1 SLC5A7 (2) 0.03125 1.00000 2.013e-3 2.899e-3 GRHL3-related orofacial clefting Neural tube defects, x-linked 1 1 GRHL3 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital ear anomaly hearing impairment and infertile male syndrome 1 1 CDC14A (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital ear anomaly Hearing loss with hypertrophic cardiomyopathy 1 0 MYO6 (1) 0.03125 1.00000 2.013e-3 2.899e-3 Distal spinal muscular atrophy hereditary peripheral neuropathy 1 1 IGHMBP2 (4) 0.03125 1.00000 2.013e-3 2.899e-3 Distal spinal muscular atrophy hereditary sensory and autonomic neuropathy type 6 1 1 DST (2) 0.03125 1.00000 2.013e-3 2.899e-3 Homocystinuria Neural tube defects, x-linked 1 1 CBS (4) 0.03125 1.00000 2.013e-3 2.899e-3 hypercholesterolemia, familial, 1 Hyperplasia 1 1 LDLR (2) 0.03125 1.00000 2.013e-3 2.899e-3 hyperinsulinemic hypoglycemia with polycystic kidney disease Pituitary stalk interruption syndrome 1 1 PMM2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 hypogonadotropic hypogonadism 3 with or without anosmia Pituitary stalk interruption syndrome 1 1 PROKR2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Biliary atresia RP1-related dominant retinopathy 1 1 RP1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Biliary atresia RP1-related recessive retinopathy 1 1 RP1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital microcephaly schimke immuno-osseous dysplasia 1 1 SMARCAL1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Auditory neuropathy Sensorineural hearing loss thrombocytopenia syndrome 1 1 DIAPH1 (3) 0.03125 1.00000 2.013e-3 2.899e-3 157 Pharyngeal disorder severe combined immunodeficiency due to CARMIL2 deficiency 1 1 CARMIL2 (2) 0.03125 1.00000 2.013e-3 2.899e-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 2.899e-3 Hyperplasia megalencephaly-polydactyly syndrome 1 1 MYCN (2) 0.03125 1.00000 2.013e-3 2.899e-3 Hyperplasia methionine adenosyltransferase deficiency 1 1 MAT1A (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital microcephaly microcephalic primordial dwarfism due to RTTN deficiency 1 1 RTTN (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital microcephaly microcephaly 2, primary, autosomal recessive, with or without cortical malformations 1 1 WDR62 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital microcephaly microcephaly with intellectual disability 1 1 MCPH1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital microcephaly microcephaly with or without short stature 1 1 CEP152 (2) 0.03125 1.00000 2.013e-3 2.899e-3 137 Congenital microcephaly microcephaly, seizures, and developmental delay 1 1 PNKP (2) 0.03125 1.00000 2.013e-3 2.899e-3 Hyperplasia palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 1 1 KDM1A (2) 0.03125 1.00000 2.013e-3 2.899e-3 Hyperplasia Peters plus syndrome 1 1 B3GLCT (2) 0.03125 1.00000 2.013e-3 2.899e-3 116 Pancreatic ductal carcinoma peutz-jeghers syndrome 1 1 STK11 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Biliary atresia Phenylketonuria 1 1 PAH (4) 0.03125 1.00000 2.013e-3 2.899e-3 Pituitary stalk interruption syndrome PMM2-congenital disorder of glycosylation 1 1 PMM2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Auditory neuropathy progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 1 DIAPH1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 157 Fanconi anemia complementation group A Pituitary stalk interruption syndrome 1 1 FANCA (2) 0.03125 1.00000 2.013e-3 2.899e-3 Dermatomyositis Fanconi anemia complementation group C 1 1 FANCC (2) 0.03125 1.00000 2.013e-3 2.899e-3 fanconi anemia complementation group d2 Pituitary stalk interruption syndrome 1 1 FANCD2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 fanconi anemia complementation group g Pituitary stalk interruption syndrome 1 1 FANCG (2) 0.03125 1.00000 2.013e-3 2.899e-3 fanconi anemia complementation group p Pituitary stalk interruption syndrome 1 1 SLX4 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Auditory neuropathy FDXR-related optic atrophy mitochondrial dysfunction syndrome 1 1 FDXR (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital microcephaly FOXG1 disorder 1 1 FOXG1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 frontorhiny Neural tube defects, x-linked 1 1 ALX3 (2) 0.03125 1.00000 2.013e-3 2.899e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis Neuronal ceroid lipofuscinosis 1 1 GRN (6) 0.03125 1.00000 2.013e-3 2.899e-3 Gallbladder agenesis Hyperplasia 1 1 MYCN (2) 0.03125 1.00000 2.013e-3 2.899e-3 Gestational trophoblastic disease Membranous glomerulonephritis 1 1 POU5F1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 glycogen storage disease II Membranous glomerulonephritis 1 1 GAA (2) 0.03125 1.00000 2.013e-3 2.899e-3 Glycoprotein storage disease Membranous glomerulonephritis 1 0 GAA (1) 0.03125 1.00000 2.013e-3 2.899e-3 GPR161-related medulloblastoma predisposition Pituitary stalk interruption syndrome 1 1 GPR161 (3) 0.03125 1.00000 2.013e-3 2.899e-3 58 Pharyngeal disorder t-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 1 FOXN1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Biliary atresia Tetrahydrobiopterin-responsive phenylketonuria 1 1 PAH (2) 0.03125 1.00000 2.013e-3 2.899e-3 Neuronal ceroid lipofuscinosis Visceral acid sphingomyelinase deficiency 1 1 SMPD1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Seborrheic keratosis Woolly hair-skin fragility syndrome 1 1 TUFT1 (4) 0.03125 1.00000 2.013e-3 2.899e-3 16 IL21-related infantile inflammatory bowel disease Selective iga deficiency disease 1 1 IL21 (2) 0.03125 1.00000 2.013e-3 2.899e-3 immunodeficiency 84 Selective iga deficiency disease 1 1 IKZF3 (2) 0.03125 1.00000 2.013e-3 2.899e-3 immunodeficiency, common variable, 12 Pharyngeal disorder 1 1 NFKB1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 103 immunodeficiency, common variable, 12 Membranous glomerulonephritis 1 1 NFKB1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 immunodeficiency, common variable, 2 Pharyngeal disorder 1 1 TNFRSF13B (2) 0.03125 1.00000 2.013e-3 2.899e-3 Auditory neuropathy inherited neurodegenerative disorder 1 1 KIF5A (2) 0.03125 1.00000 2.013e-3 2.899e-3 Intellectual developmental disorder dysmorphic macrocephaly Pharyngeal disorder 1 1 ZBTB7A (2) 0.03125 1.00000 2.013e-3 2.899e-3 103 Intellectual developmental disorder microcephaly ocular Pituitary stalk interruption syndrome 1 1 SOX11 (4) 0.03125 1.00000 2.013e-3 2.899e-3 Auditory neuropathy Intellectual disability with craniofacial dysmorphism and macrocephaly 1 1 H1-4 (2) 0.03125 1.00000 2.013e-3 2.899e-3 joubert syndrome 3 Selective iga deficiency disease 1 1 AHI1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 369 kufor-rakeb syndrome Neuronal ceroid lipofuscinosis 1 1 ATP13A2 (4) 0.03125 1.00000 2.013e-3 2.899e-3 Acid sphingomyelinase deficiency Neuronal ceroid lipofuscinosis 1 1 SMPD1 (3) 0.03125 1.00000 2.013e-3 2.899e-3 Alexander disease Neuronal ceroid lipofuscinosis 1 1 GFAP (4) 0.03125 1.00000 2.013e-3 2.899e-3 amyotrophic lateral sclerosis type 6 Distal spinal muscular atrophy 1 1 FUS (2) 0.03125 1.00000 2.013e-3 2.899e-3 amyotrophic lateral sclerosis, susceptibility to, 25 Auditory neuropathy 1 1 KIF5A (2) 0.03125 1.00000 2.013e-3 2.899e-3 Anaphylatoxin inactivator deficiency Dermatomyositis 1 1 CPN1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 anterior segment dysgenesis 8 Selective iga deficiency disease 1 1 CPAMD8 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital posterior urethral valves Seborrheic keratosis 1 1 BNC2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 16 Biliary atresia Congenitally uncorrected transposition of the great arteries 1 0 CFC1 (1) 0.03125 1.00000 2.013e-3 2.899e-3 Auditory neuropathy Deafness dystonia syndrome 1 1 TIMM8A (3) 0.03125 1.00000 2.013e-3 2.899e-3 157 Cohen syndrome Pituitary stalk interruption syndrome 1 1 VPS13B (7) 0.03125 1.00000 2.013e-3 2.899e-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 2.899e-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 2.899e-3 Congenital isolated acth deficiency Pituitary stalk interruption syndrome 1 1 TBX19 (4) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital membranous nephropathy Membranous glomerulonephritis 1 1 MME (3) 0.03125 1.00000 2.013e-3 2.899e-3 Congenital microcephaly congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 1 ASNS (5) 0.03125 1.00000 2.013e-3 2.899e-3 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism Pontocerebellar hypoplasia 1 1 PRDM13 (4) 0.03125 1.00000 2.013e-3 2.899e-3 Cerebellar-facial-dental syndrome Congenital microcephaly 1 1 BRF1 (5) 0.03125 1.00000 2.013e-3 2.899e-3 137 Charcot-Marie-Tooth disease axonal type 2F Distal spinal muscular atrophy 1 1 HSPB1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Charcot-Marie-Tooth disease axonal type 2F Hyperplasia 1 1 HSPB1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Charcot-Marie-Tooth disease axonal type 2Z Distal spinal muscular atrophy 1 1 MORC2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy 1 1 GARS1 (2) 0.03125 1.00000 2.013e-3 2.899e-3 13 Charcot-Marie-Tooth disease type 2T Membranous glomerulonephritis 1 1 MME (2) 0.03125 1.00000 2.013e-3 2.899e-3 Charcot-Marie-Tooth disease type 4 Distal spinal muscular atrophy 1 1 PRX (2) 0.03125 1.00000 2.013e-3 2.899e-3 Charcot-Marie-Tooth disease type 4C Distal spinal muscular atrophy 1 1 SH3TC2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Neuronal ceroid lipofuscinosis 1 1 TPP1 (8) 0.03125 1.00000 2.013e-3 2.899e-3 ciliary dyskinesia, primary, 41 Pharyngeal disorder 1 1 GAS2L2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 103 Cleft palate psychomotor retardation distinctive facial features Hyperplasia 1 1 KDM1A (3) 0.03125 1.00000 2.013e-3 2.899e-3 Coasy protein-associated neurodegeneration Pontocerebellar hypoplasia 1 1 COASY (5) 0.03125 1.00000 2.013e-3 2.899e-3 Coenzyme a synthase protein associated neurodegeneration Pontocerebellar hypoplasia 1 1 COASY (4) 0.03125 1.00000 2.013e-3 2.899e-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 2.899e-3 C9 deficiency Dermatomyositis 1 1 C9 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Carboxypeptidase n deficiency Dermatomyositis 1 1 CPN1 (4) 0.03125 1.00000 2.013e-3 2.899e-3 Caspase 8 deficiency Seborrheic keratosis 1 1 CASP8 (2) 0.03125 1.00000 2.013e-3 2.899e-3 arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy 1 1 TMEM43 (5) 0.03125 1.00000 2.013e-3 2.899e-3 Arthrogryposis with ectodermal dysplasia Auditory neuropathy 1 0 OTOF (1) 0.03125 1.00000 2.013e-3 2.899e-3 157 Arthrogryposis with ectodermal dysplasia Congenital ear anomaly 1 0 OTOF (1) 0.03125 1.00000 2.013e-3 2.899e-3 atypical hemolytic-uremic syndrome with B factor anomaly Membranous glomerulonephritis 1 1 CFB (2) 0.03125 1.00000 2.013e-3 2.899e-3 autoimmune lymphoproliferative syndrome type 2B Seborrheic keratosis 1 1 CASP8 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Developmental delay with or without epilepsy Distal spinal muscular atrophy 1 1 SPTAN1 (3) 0.03125 1.00000 2.013e-3 2.899e-3 dilated cardiomyopathy 1D Seborrheic keratosis 1 1 TNNT2 (2) 0.03125 1.00000 2.013e-3 2.899e-3 dilated cardiomyopathy 1HH Distal spinal muscular atrophy 1 1 BAG3 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Distal axonal motor neuropathy-myofibrillar myopathy syndrome Distal spinal muscular atrophy 1 1 HSPB8 (2) 0.03125 1.00000 2.013e-3 2.899e-3 Endometrioid carcinoma Pancreatic ductal carcinoma 1 0 MSLN (1) 0.03125 1.00000 2.013e-3 2.899e-3 Cushing syndrome Ocular hypertension 2 2 NR3C1 (3), CDH23 (2) 0.02899 0.09524 2.004e-3 2.899e-3 296 Aplastic anemia Esophageal atresia 2 1 TERT (5), GSTM1 (1) 0.03175 0.06250 1.996e-3 2.896e-3 Focal onset epileptic seizure Frontal lobe epilepsy 1 1 CHRNB2 (2) 0.09091 0.20000 1.947e-3 2.826e-3 Paralytic strabismus Telomere syndrome 1 1 PARN (2) 0.09091 0.20000 1.947e-3 2.826e-3 Paraplegia Proximal spinal muscular atrophy 1 1 SPG7 (2) 0.09091 0.20000 1.947e-3 2.826e-3 348 Ataxia with oculomotor apraxia Proximal spinal muscular atrophy 1 0 SETX (1) 0.09091 0.20000 1.947e-3 2.826e-3 Laryngeal neoplasms Respiratory system neoplasm 1 1 ADH1B (2) 0.09091 0.20000 1.947e-3 2.826e-3 Neuropathy, congenital hypomyelinating Retinitis punctata albescens 1 1 RHO (2) 0.09091 0.20000 1.947e-3 2.826e-3 Congenital bile acid synthesis defect Oculopharyngodistal myopathy 1 1 ABCD3 (7) 0.09091 0.20000 1.947e-3 2.826e-3 Adams-oliver syndrome Aplasia cutis congenita 1 1 DLL4 (4) 0.09091 0.20000 1.947e-3 2.826e-3 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 2.826e-3 85 Bile duct disorder Congenital heart malformation 1 0 MAML3 (1) 0.09091 0.20000 1.947e-3 2.826e-3 Bronchopneumonia Erythropoietic protoporphyria 1 1 BTC (3) 0.09091 0.20000 1.947e-3 2.826e-3 318 Congenital dyserythropoietic anemia Orthostatic hypotension 1 1 ABCB1 (2) 0.07692 0.33333 1.947e-3 2.826e-3 120 Desbuquois dysplasia Epiphyseal dysplasia 1 1 CANT1 (5) 0.07692 0.33333 1.947e-3 2.826e-3 Apraxia Dias-logan syndrome 1 1 BCL11A (5) 0.07692 0.33333 1.947e-3 2.826e-3 Early onset vitamin b6 dependent epilepsy Myelomonocytic leukemia 1 1 CBL (5) 0.07692 0.33333 1.947e-3 2.826e-3 Contracture Geleophysic dysplasia 1 1 ADAMTSL2 (5) 0.07692 0.33333 1.947e-3 2.826e-3 28 Cholesterol ester transfer protein deficiency Hypertensive heart disease 1 1 SCARB1 (2) 0.07692 0.33333 1.947e-3 2.826e-3 Chorioretinopathy with microcephaly Dwarfism 1 1 PLK4 (3) 0.07692 0.33333 1.947e-3 2.826e-3 Chudley-mccullough syndrome Spherocytosis 1 1 SPTB (3) 0.07692 0.33333 1.947e-3 2.826e-3 271 Cleidocranial dysplasia Tooth abnormalities 1 1 RUNX2 (6) 0.07692 0.33333 1.947e-3 2.826e-3 Bone resorption Ovarian diseases 1 1 CYP19A1 (2) 0.07692 0.33333 1.947e-3 2.826e-3 Delirium Parkinsonism-dystonia 1 1 SLC6A3 (4) 0.07692 0.33333 1.947e-3 2.826e-3 Gilbert syndrome Rotor syndrome 1 1 SLCO1B1 (4) 0.07692 0.33333 1.947e-3 2.826e-3 256 Berylliosis Hepatitis c induced liver cirrhosis 1 1 BTNL2 (2) 0.07692 0.33333 1.947e-3 2.826e-3 Hyperalphalipoproteinemia Hypertensive heart disease 1 1 SCARB1 (2) 0.07692 0.33333 1.947e-3 2.826e-3 Estrogen resistance Leiomyoma 1 1 ESR1 (6) 0.07692 0.33333 1.947e-3 2.826e-3 Apraxia Marinesco-sjogren syndrome 1 1 SIL1 (6) 0.07692 0.33333 1.947e-3 2.826e-3 231 Metaphyseal dysplasia Tooth abnormalities 1 1 RUNX2 (6) 0.07692 0.33333 1.947e-3 2.826e-3 Cornelia de lange syndrome Trichorhinophalangeal syndrome 1 1 RAD21 (6) 0.07692 0.33333 1.947e-3 2.826e-3 Omenn syndrome X-linked combined immunodeficiency diseases 1 1 IL2RG (4) 0.07692 0.33333 1.947e-3 2.826e-3 Dyskinesia, drug-induced Tyrosine hydroxylase–deficient dopa-responsive dystonia 1 1 TH (3) 0.05882 0.50000 1.947e-3 2.826e-3 Hyperpituitarism Recurrent multifocal osteomyelitis 1 1 IL1R1 (4) 0.05882 0.50000 1.947e-3 2.826e-3 Familial mediterranean fever Hyperpituitarism 1 1 ABCB1 (2) 0.05882 0.50000 1.947e-3 2.826e-3 120 46,xy gonadal dysgenesis Ovarian hyperstimulation syndrome 1 1 FSHR (6) 0.05882 0.50000 1.947e-3 2.826e-3 149 Parkinsonian-pyramidal syndrome Secondary parkinson disease 1 1 SNCA (3) 0.05882 0.50000 1.947e-3 2.826e-3 395 Gastro-entero-pancreatic neuroendocrine tumor immunodeficiency 104 1 1 PTPRC (2) 0.05882 0.50000 1.947e-3 2.826e-3 Intellectual developmental disorder dysmorphic cerebellar Mitochondrial myopathy 1 0 CYTB (1) 0.05882 0.50000 1.947e-3 2.826e-3 Omodysplasia Secondary parkinson disease 1 1 GPC6 (6) 0.05882 0.50000 1.947e-3 2.826e-3 Lymphatic system disease Uterine prolapse 1 0 SLC12A2 (1) 0.05882 0.50000 1.947e-3 2.826e-3 inherited retinal dystrophy Microphthalmia with retinitis pigmentosa and ocular anomalies 1 1 C1QTNF5 (2) 0.05882 0.50000 1.947e-3 2.826e-3 Cleft lip and palate Eosinophilic leukemia 1 1 PDGFRA (2) 0.05882 0.50000 1.947e-3 2.826e-3 Genitourinary disease Urinary system disease 1 0 BCAS3 (1) 0.05882 0.50000 1.947e-3 2.826e-3 Chronic progressive external ophthalmoplegia Mitochondrial myopathy 1 1 RRM2B (2) 0.05882 0.50000 1.947e-3 2.826e-3 Cobblestone lissencephaly Coloboma 1 1 LAMB1 (6) 0.05882 0.50000 1.947e-3 2.826e-3 Bradyopsia Dyskinesia, drug-induced 1 1 RGS9 (4) 0.05882 0.50000 1.947e-3 2.826e-3 118 Arrhythmogenic right ventricular dysplasia Brain compression 1 1 CTNNA3 (2) 0.05882 0.50000 1.947e-3 2.826e-3 Colobomatous microphthalmia Colobomatous optic disc macular atrophy chorioretinopathy syndrome 1 1 SIX6 (4) 0.05882 0.50000 1.947e-3 2.826e-3 52 congenital heart disease with heterotaxy syndrome Syntelencephaly 1 1 NODAL (3) 0.05882 0.50000 1.947e-3 2.826e-3 congenital heart disease with heterotaxy syndrome Septopreoptic holoprosencephaly 1 1 NODAL (2) 0.05882 0.50000 1.947e-3 2.826e-3 Autoinflammatory disease, familial, behcet-like 3 Cystitis 1 1 RELA (3) 0.05882 0.50000 1.947e-3 2.826e-3 80 Andersen-tawil syndrome Polymorphic catecholaminergic ventricular tachycardia 1 1 KCNJ2 (5) 0.05882 0.50000 1.947e-3 2.826e-3 Anorectal malformation X-linked dyskeratosis congenita 1 1 RTEL1 (2) 0.05882 0.50000 1.947e-3 2.826e-3 Anorectal malformation Diffuse panbronchiolitis 1 1 MUC5B (2) 0.05882 0.50000 1.947e-3 2.826e-3 12p12.1 microdeletion syndrome Spondylosis 1 1 SOX5 (3) 0.03226 1.00000 1.948e-3 2.826e-3 Antecubital pterygium syndrome Lipoprotein lipase deficiency 1 1 PSD3 (3) 0.03226 1.00000 1.948e-3 2.826e-3 Apolipoprotein a5 deficiency Lipoprotein lipase deficiency 1 1 APOA5 (3) 0.03226 1.00000 1.948e-3 2.826e-3 57 Bone dysplasia with increased bone density Congenital cartilage disorder 1 0 SOST (1) 0.03226 1.00000 1.948e-3 2.826e-3 Camptodactyly Esophageal disease 1 1 TLN2 (3) 0.03226 1.00000 1.948e-3 2.826e-3 Developmental delay with or without epilepsy West syndrome 1 1 SPTAN1 (3) 0.03226 1.00000 1.948e-3 2.826e-3 Dna ligase iv deficiency Spondylosis 1 1 LIG4 (4) 0.03226 1.00000 1.948e-3 2.826e-3 360 Congenital cartilage disorder Dyggve-melchior-clausen syndrome 1 1 DYM (5) 0.03226 1.00000 1.948e-3 2.826e-3 Early-onset obesity-hyperphagia-severe developmental delay syndrome West syndrome 1 1 NTRK2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Endometrioid carcinoma Lymphatic metastasis 1 0 MSLN (1) 0.03226 1.00000 1.948e-3 2.826e-3 Caudate atrophy Cerebellar atrophy 1 0 TYROBP (1) 0.03226 1.00000 1.948e-3 2.826e-3 Cednik syndrome Hypomyelinating leukodystrophy 1 1 SNAP29 (4) 0.03226 1.00000 1.948e-3 2.826e-3 Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome Hypomyelinating leukodystrophy 1 1 SNAP29 (3) 0.03226 1.00000 1.948e-3 2.826e-3 Cerebrovascular trauma West syndrome 1 1 PHACTR1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Appendicitis Chromosome 2p16.1-p15 deletion syndrome 1 1 USP34 (2) 0.03226 1.00000 1.948e-3 2.826e-3 CNGA1-related retinopathy Spondylosis 1 1 CNGA1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Appendicitis Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 1 1 PPP3CA (4) 0.03226 1.00000 1.948e-3 2.826e-3 Autosomal recessive hypomyelinating leukodystrophy Hypomyelinating leukodystrophy 1 1 HIKESHI (7) 0.03226 1.00000 1.948e-3 2.826e-3 Beta-ureidopropionase deficiency West syndrome 1 1 UPB1 (6) 0.03226 1.00000 1.948e-3 2.826e-3 337 Comp-related skeletal dysplasia Congenital cartilage disorder 1 1 COMP (3) 0.03226 1.00000 1.948e-3 2.826e-3 Compton-north congenital myopathy Spondylosis 1 1 CNTN1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Cerebellar atrophy Congenital cerebellar hypoplasia 1 1 OXR1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 241 congenital disorder of glycosylation, type iit Lipoprotein lipase deficiency 1 1 GALNT2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 57 Congenital lethal myopathy Spondylosis 1 1 CNTN1 (3) 0.03226 1.00000 1.948e-3 2.826e-3 Epilepsy due to perinatal stroke West syndrome 1 0 ST3GAL3 (1) 0.03226 1.00000 1.948e-3 2.826e-3 337 Expressive language delay Lymphatic metastasis 1 1 KLF7 (2) 0.03226 1.00000 1.948e-3 2.826e-3 glutaryl-CoA dehydrogenase deficiency Hypomyelinating leukodystrophy 1 1 GCDH (2) 0.03226 1.00000 1.948e-3 2.826e-3 Intellectual developmental disorder short stature behavioral Spondylosis 1 1 IQSEC1 (5) 0.03226 1.00000 1.948e-3 2.826e-3 360 lamb-shaffer syndrome Spondylosis 1 1 SOX5 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Appendicitis periventricular nodular heterotopia 7 1 1 NEDD4L (2) 0.03226 1.00000 1.948e-3 2.826e-3 Hypomyelinating leukodystrophy POLR1C-related disorder 1 1 POLR1C (6) 0.03226 1.00000 1.948e-3 2.826e-3 Hypomyelinating leukodystrophy POLR3A-related disorder 1 1 POLR3A (5) 0.03226 1.00000 1.948e-3 2.826e-3 59 Congenital nasopharyngeal atresia primary ciliary dyskinesia 1 1 1 DNAI1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 10 1 1 DNAAF2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 11 1 1 RSPH4A (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 12 1 1 RSPH9 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 13 1 1 DNAAF1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital nasopharyngeal atresia primary ciliary dyskinesia 14 1 1 CCDC39 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital nasopharyngeal atresia primary ciliary dyskinesia 15 1 1 CCDC40 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 16 1 1 DNAL1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 17 1 1 DNAAF19 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 18 1 1 DNAAF5 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 19 1 1 DNAAF11 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital nasopharyngeal atresia primary ciliary dyskinesia 2 1 1 DNAAF3 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 20 1 1 ODAD1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital nasopharyngeal atresia primary ciliary dyskinesia 21 1 1 DRC1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 22 1 1 ZMYND10 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 23 1 1 ODAD2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 24 1 1 RSPH1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 25 1 1 DNAAF4 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 26 1 1 CFAP298 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital nasopharyngeal atresia primary ciliary dyskinesia 28 1 1 SPAG1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital nasopharyngeal atresia primary ciliary dyskinesia 29 1 1 CCNO (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 3 1 1 DNAH5 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 30 1 1 ODAD3 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 32 1 1 RSPH3 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 5 1 1 HYDIN (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital nasopharyngeal atresia primary ciliary dyskinesia 7 1 1 DNAH11 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Congenital nasopharyngeal atresia primary ciliary dyskinesia 9 1 1 DNAI2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 9 Hypomyelinating leukodystrophy VPS11-related neurological disorder 1 1 VPS11 (7) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy Wiedemann-rautenstrauch syndrome 1 1 POLR3A (4) 0.03226 1.00000 1.948e-3 2.826e-3 59 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Lipoprotein lipase deficiency 1 1 ZPR1 (4) 0.03226 1.00000 1.948e-3 2.826e-3 57 Cerebellar atrophy hereditary spastic paraplegia 35 1 1 FA2H (2) 0.03226 1.00000 1.948e-3 2.826e-3 hypercholesterolemia, autosomal dominant, 3 Lipoprotein lipase deficiency 1 1 PCSK9 (2) 0.03226 1.00000 1.948e-3 2.826e-3 hypercholesterolemia, familial, 1 Lipoprotein lipase deficiency 1 1 LDLR (2) 0.03226 1.00000 1.948e-3 2.826e-3 57 Hypomyelinating leukodystrophy POLR3B-related disorder 1 1 POLR3B (6) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy hypomyelinating leukodystrophy 13 1 1 HIKESHI (6) 0.03226 1.00000 1.948e-3 2.826e-3 Hypomyelinating leukodystrophy hypomyelinating leukodystrophy 2 1 1 GJC2 (5) 0.03226 1.00000 1.948e-3 2.826e-3 Hypomyelinating leukodystrophy hypomyelinating leukodystrophy 3 1 1 AIMP1 (4) 0.03226 1.00000 1.948e-3 2.826e-3 Hypomyelinating leukodystrophy hypomyelinating leukodystrophy 5 1 1 HYCC1 (4) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy hypomyelinating leukodystrophy 9 1 1 RARS1 (5) 0.03226 1.00000 1.948e-3 2.826e-3 59 Congenital cartilage disorder radioulnar synostosis with amegakaryocytic thrombocytopenia 1 1 1 HOXA11 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital cartilage disorder Schmid metaphyseal chondrodysplasia 1 1 COL10A1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Esophageal disease spinocerebellar ataxia type 2 1 1 ATXN2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital cartilage disorder Stickler syndrome, type 4 1 1 COL9A1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 14 1 1 UFM1 (5) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 16 1 1 TMEM106B (4) 0.03226 1.00000 1.948e-3 2.826e-3 Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 17 1 1 AIMP2 (4) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 18 1 1 DEGS1 (5) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 21 1 1 POLR3K (5) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 22 1 1 CLDN11 (4) 0.03226 1.00000 1.948e-3 2.826e-3 59 Hypomyelinating leukodystrophy leukodystrophy, hypomyelinating, 25 1 1 TMEM163 (5) 0.03226 1.00000 1.948e-3 2.826e-3 Cerebellar atrophy microcephaly, seizures, and developmental delay 1 1 PNKP (2) 0.03226 1.00000 1.948e-3 2.826e-3 Mucosulfatidosis Spondylosis 1 1 SUMF1 (3) 0.03226 1.00000 1.948e-3 2.826e-3 Axonal hereditary motor and sensory neuropathy Multiple system atrophy 1 1 MFN2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 168 multiple symmetric lipomatosis with partial lipodystrophy Multiple system atrophy 1 1 MFN2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 168 Charcot-Marie-Tooth disease type 2A2 Multiple system atrophy 1 1 MFN2 (2) 0.03226 1.00000 1.948e-3 2.826e-3 168 Multiple system atrophy nail-patella syndrome 1 1 LMX1B (2) 0.03226 1.00000 1.948e-3 2.826e-3 Cerebellar atrophy Nasu-hakola disease 1 1 TYROBP (2) 0.03226 1.00000 1.948e-3 2.826e-3 Appendicitis nephronophthisis 1 1 1 NPHP1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Cerebellar atrophy neurodegeneration, childhood-onset, with cerebellar atrophy 1 1 AGTPBP1 (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital cartilage disorder obsolete Stüve-Wiedemann syndrome 1 1 LIFR (2) 0.03226 1.00000 1.948e-3 2.826e-3 Congenital myasthenic syndrome myasthenic syndrome, congenital, 1b, fast-channel 1 1 CHRNA1 (3) 0.03333 1.00000 1.883e-3 2.760e-3 5 Congenital myasthenic syndrome myopathy caused by variation in GMPPB 1 1 GMPPB (6) 0.03333 1.00000 1.883e-3 2.760e-3 Macrogyria myopathy caused by variation in POMT2 1 1 POMT2 (2) 0.03333 1.00000 1.883e-3 2.760e-3 Focal segmental glomerulosclerosis nail-patella syndrome 1 1 LMX1B (3) 0.03333 1.00000 1.883e-3 2.760e-3 Duchenne muscular dystrophy nephrotic syndrome, type 12 1 1 NUP93 (2) 0.03333 1.00000 1.883e-3 2.760e-3 Holoprosencephaly neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 DLL1 (4) 0.03333 1.00000 1.883e-3 2.760e-3 110 Congenital myasthenic syndrome neuronopathy, distal hereditary motor, type 7A 1 1 SLC5A7 (3) 0.03333 1.00000 1.883e-3 2.760e-3 5 Holoprosencephaly holoprosencephaly 12 with or without pancreatic agenesis 1 1 CNOT1 (5) 0.03333 1.00000 1.883e-3 2.760e-3 Holoprosencephaly holoprosencephaly-hypokinesia-congenital contractures syndrome 1 1 GPKOW (3) 0.03333 1.00000 1.883e-3 2.760e-3 110 Congenital contractural arachnodactyly Homocystinuria 1 1 CBS (4) 0.03333 1.00000 1.883e-3 2.760e-3 Holoprosencephaly Patterson stevenson fontaine syndrome 1 0 LMBR1 (1) 0.03333 1.00000 1.883e-3 2.760e-3 Heart valve prolapse Pyoderma gangrenosum 1 1 PTPN6 (2) 0.03333 1.00000 1.883e-3 2.760e-3 familial acute necrotizing encephalopathy Mitochondrial dna depletion syndrome 1 1 RANBP2 (2) 0.03333 1.00000 1.883e-3 2.760e-3 fanconi anemia complementation group i Mitochondrial dna depletion syndrome 1 1 FANCI (2) 0.03333 1.00000 1.883e-3 2.760e-3 181 Focal segmental glomerulosclerosis focal segmental glomerulosclerosis 3, susceptibility to 1 1 CD2AP (5) 0.03333 1.00000 1.883e-3 2.760e-3 Focal segmental glomerulosclerosis focal segmental glomerulosclerosis and neurodevelopmental syndrome 1 1 TRIM8 (4) 0.03333 1.00000 1.883e-3 2.760e-3 20 Focal segmental glomerulosclerosis inherited focal segmental glomerulosclerosis 1 1 CD2AP (5) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital myasthenic syndrome Intellectual developmental disorder seizures behavioral 1 1 ALG14 (6) 0.03333 1.00000 1.883e-3 2.760e-3 5 joubert syndrome 36 Macrogyria 1 1 FAM149B1 (2) 0.03333 1.00000 1.883e-3 2.760e-3 124 Congenital contractural arachnodactyly Trident hand 1 1 NPR2 (2) 0.03333 1.00000 1.883e-3 2.760e-3 Heart valve prolapse Vitamin k deficiency 1 0 BGLAP (1) 0.03333 1.00000 1.883e-3 2.760e-3 391 Congenital contractural arachnodactyly X-linked spondyloepimetaphyseal dysplasia 1 1 BGN (4) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital contractural arachnodactyly X-linked thoracic aortic aneurysm 1 1 BGN (2) 0.03333 1.00000 1.883e-3 2.760e-3 Holoprosencephaly Xq25 microduplication syndrome 1 1 STAG2 (5) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital contractural arachnodactyly loeys-dietz syndrome 6 1 1 SMAD2 (2) 0.03333 1.00000 1.883e-3 2.760e-3 50 Congenital contractural arachnodactyly meester-loeys syndrome 1 1 BGN (2) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital contractural arachnodactyly Rienhoff syndrome 1 1 TGFB3 (3) 0.03333 1.00000 1.883e-3 2.760e-3 Developmental delay with dysmorphic facies and dental anomalies Duchenne muscular dystrophy 1 1 SATB1 (4) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital myasthenic syndrome DPAGT1-congenital disorder of glycosylation 1 1 DPAGT1 (6) 0.03333 1.00000 1.883e-3 2.760e-3 Benign congenital myopathy Duchenne muscular dystrophy 1 1 DMD (4) 0.03333 1.00000 1.883e-3 2.760e-3 212 Duchenne muscular dystrophy Dystrophinopathy 1 1 DMD (4) 0.03333 1.00000 1.883e-3 2.760e-3 212 Duchenne muscular dystrophy progressive muscular dystrophy 1 1 DMD (5) 0.03333 1.00000 1.883e-3 2.760e-3 212 Duchenne muscular dystrophy Retrograde amnesia 1 1 PREP (2) 0.03333 1.00000 1.883e-3 2.760e-3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Mitochondrial dna depletion syndrome 1 1 EDAR (2) 0.03333 1.00000 1.883e-3 2.760e-3 Acheiropody Holoprosencephaly 1 1 LMBR1 (2) 0.03333 1.00000 1.883e-3 2.760e-3 Adenosine deaminase 2 deficiency Vasculitis 1 1 ADA2 (7) 0.03333 1.00000 1.883e-3 2.760e-3 ALG2-congenital disorder of glycosylation Congenital myasthenic syndrome 1 1 ALG2 (6) 0.03333 1.00000 1.883e-3 2.760e-3 5 Boudin-mortier syndrome Congenital contractural arachnodactyly 1 1 NPR3 (5) 0.03333 1.00000 1.883e-3 2.760e-3 50 Bullous pyoderma gangrenosum Heart valve prolapse 1 1 PTPN6 (2) 0.03333 1.00000 1.883e-3 2.760e-3 Caspase 8 deficiency Cerebral hemorrhage 1 1 CASP8 (2) 0.03333 1.00000 1.883e-3 2.760e-3 autoimmune lymphoproliferative syndrome type 2B Cerebral hemorrhage 1 1 CASP8 (2) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital myasthenic syndrome congenital myasthenic syndrome 10 1 1 DOK7 (5) 0.03333 1.00000 1.883e-3 2.760e-3 5 Congenital myasthenic syndrome congenital myasthenic syndrome 12 1 1 GFPT1 (5) 0.03333 1.00000 1.883e-3 2.760e-3 5 Congenital myasthenic syndrome congenital myasthenic syndrome 2A 1 1 CHRNB1 (4) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital myasthenic syndrome congenital myasthenic syndrome 2C 1 1 CHRNB1 (4) 0.03333 1.00000 1.883e-3 2.760e-3 Congenital myasthenic syndrome congenital myasthenic syndrome 6 1 1 CHAT (4) 0.03333 1.00000 1.883e-3 2.760e-3 5 Congenital myasthenic syndrome congenital myasthenic syndrome 7 1 1 SYT2 (3) 0.03333 1.00000 1.883e-3 2.760e-3 5 Congenital myasthenic syndrome congenital myasthenic syndrome 8 1 1 AGRN (3) 0.03333 1.00000 1.883e-3 2.760e-3 5 Congenital myasthenic syndrome congenital myasthenic syndrome 9 1 1 MUSK (3) 0.03333 1.00000 1.883e-3 2.760e-3 5 Den hoed-de boer-voisin syndrome Duchenne muscular dystrophy 1 1 SATB1 (3) 0.03333 1.00000 1.883e-3 2.760e-3 CBL-related disorder Vasculitis 1 1 CBL (3) 0.03333 1.00000 1.883e-3 2.760e-3 Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 1 1 INF2 (6) 0.03333 1.00000 1.883e-3 2.760e-3 Chromodomain helicase dna binding protein 8 overgrowth syndrome Congenital myasthenic syndrome 1 1 CHD8 (2) 0.03333 1.00000 1.883e-3 2.760e-3 Chromosome xq25 duplication syndrome Holoprosencephaly 1 1 STAG2 (3) 0.03333 1.00000 1.883e-3 2.760e-3 Hearing loss Lipoyltransferase deficiency 2 1 LIPT1 (6), MITD1 (1) 0.00514 0.66667 1.859e-3 2.734e-3 Chiari-frommel syndrome Male pseudohypopituitarism 1 0 LHB (1) 0.09091 0.25000 1.817e-3 2.675e-3 Klippel-feil syndrome Multiple synostoses syndrome 1 1 GDF6 (6) 0.09091 0.25000 1.817e-3 2.675e-3 Micropenis Prostatic hyperplasia 1 1 SRD5A2 (2) 0.09091 0.25000 1.817e-3 2.675e-3 Prostatic hyperplasia Xanthinuria 1 1 SRD5A2 (2) 0.09091 0.25000 1.817e-3 2.675e-3 Chiari-frommel syndrome Myoclonic dystonia 1 0 DRD2 (1) 0.09091 0.25000 1.817e-3 2.675e-3 118 Branchiootorenal syndrome Hypercholanemia 1 1 TJP2 (3) 0.09091 0.25000 1.817e-3 2.675e-3 Anodontia Shwachman-diamond syndrome 1 1 SBDS (7) 0.09091 0.25000 1.817e-3 2.675e-3 Carney complex Skeletal muscle disorder 1 1 SDHA (2) 0.09091 0.25000 1.817e-3 2.675e-3 78 hereditary pheochromocytoma-paraganglioma Skeletal muscle disorder 1 1 SDHA (2) 0.09091 0.25000 1.817e-3 2.675e-3 78 Hepatic veno occlusive disease Variegate porphyria 1 0 HFE (1) 0.09091 0.25000 1.817e-3 2.675e-3 251 Anodontia Wolf-hirschhorn syndrome 1 1 MSX1 (2) 0.09091 0.25000 1.817e-3 2.675e-3 205 Adrenal gland neoplasms Corneal edema 1 0 TCF4 (1) 0.09091 0.25000 1.817e-3 2.675e-3 283 Anaphylaxis Bile duct calculus 1 1 ASPG (2) 0.09091 0.25000 1.817e-3 2.675e-3 Arima syndrome Congenital cystic kidney disease 1 0 TMEM231 (1) 0.09091 0.25000 1.817e-3 2.675e-3 8 Bone marrow diseases Cerebellar diseases 1 1 TINF2 (2) 0.09091 0.25000 1.817e-3 2.675e-3 345 Bundle branch block Cerebral atrophy 1 1 SETBP1 (2) 0.09091 0.25000 1.817e-3 2.675e-3 Blepharitis Rosacea 1 0 MC1R (1) 0.06250 0.50000 1.818e-3 2.675e-3 1 Blepharitis Sebaceous gland disease 1 0 MC1R (1) 0.06250 0.50000 1.818e-3 2.675e-3 Buruli ulcer Lymphoproliferative syndrome 1 1 SLC11A1 (3) 0.06250 0.50000 1.818e-3 2.675e-3 Carnitine acetyltransferase deficiency Neurodegeneration with brain iron accumulation 1 1 CRAT (4) 0.06250 0.50000 1.818e-3 2.675e-3 Anaplasia Cholangitis 1 1 HIF1A (2) 0.06250 0.50000 1.818e-3 2.675e-3 Childhood hypophosphatasia Metabolic bone disorder 1 1 ALPL (3) 0.06250 0.50000 1.818e-3 2.675e-3 Anterior segment mesenchymal dysgenesis Chromosome 1q21.1 deletion syndrome 1 1 GJA8 (4) 0.06250 0.50000 1.818e-3 2.675e-3 Cholangitis Chylomicron retention disease 1 0 DCDC2 (1) 0.06250 0.50000 1.818e-3 2.675e-3 Coats plus syndrome Metabolic bone disorder 1 1 CTC1 (3) 0.06250 0.50000 1.818e-3 2.675e-3 Bicuspid aortic valve Diffuse palmoplantar keratoderma 1 1 DSG1 (2) 0.06250 0.50000 1.818e-3 2.675e-3 Donnai-barrow syndrome Metabolic bone disorder 1 1 LRP2 (5) 0.06250 0.50000 1.818e-3 2.675e-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 2.675e-3 Congenital bilateral absence of vas deferens Spermatogenic failure, y-linked 1 1 CFTR (5) 0.06250 0.50000 1.818e-3 2.675e-3 Anterior segment mesenchymal dysgenesis Congenital cataract microcornea with corneal opacity 1 1 PXDN (3) 0.06250 0.50000 1.818e-3 2.675e-3 Congenital leukocyte adherence deficiency Coronary restenosis 1 0 ITGB2 (1) 0.06250 0.50000 1.818e-3 2.675e-3 Bicuspid aortic valve Congenital radioulnar synostosis 1 1 SMAD6 (4) 0.06250 0.50000 1.818e-3 2.675e-3 Corpus callosum agenesis Partington syndrome 1 1 PAK3 (2) 0.06250 0.50000 1.818e-3 2.675e-3 Autoinflammatory disease, familial, behcet-like 3 Endocrine system disease 1 1 RELA (3) 0.06250 0.50000 1.818e-3 2.675e-3 80 Congenital exomphalos Vascular brain injury 1 1 PCSK5 (2) 0.06250 0.50000 1.818e-3 2.675e-3 109 Currarino syndrome Vascular brain injury 1 1 PCSK5 (3) 0.06250 0.50000 1.818e-3 2.675e-3 109 Sacral defect Vascular brain injury 1 1 PCSK5 (2) 0.06250 0.50000 1.818e-3 2.675e-3 109 Nephrosclerosis Whim syndrome 1 1 CXCR4 (8) 0.06250 0.50000 1.818e-3 2.675e-3 Partington syndrome Wilson-turner syndrome 1 1 LAS1L (4) 0.06250 0.50000 1.818e-3 2.675e-3 Neurodegeneration with brain iron accumulation Woodhouse sakati syndrome 1 1 DCAF17 (6) 0.06250 0.50000 1.818e-3 2.675e-3 Lamellar ichthyosis Neutral lipid storage disease with ichthyosis 1 1 ABHD5 (2) 0.06250 0.50000 1.818e-3 2.675e-3 Hyperemia Partial adenosine deaminase deficiency 1 1 ADA (2) 0.06250 0.50000 1.818e-3 2.675e-3 Nephrosclerosis Periapical periodontitis 1 1 FGF2 (2) 0.06250 0.50000 1.818e-3 2.675e-3 Perrault syndrome Progressive arterial occlusive disease with hypertension 1 1 DAP3 (3) 0.06250 0.50000 1.818e-3 2.675e-3 353 Fanconi-bickel syndrome Permanent neonatal diabetes mellitus 1 1 SLC2A2 (5) 0.06250 0.50000 1.818e-3 2.675e-3 35 Intestinal disease Spectrum and myeloid neoplasm risk 1 1 SAMD9 (3) 0.06250 0.50000 1.818e-3 2.675e-3 Metabolic bone disorder Syndactyly of the toes 1 0 DHCR7 (1) 0.06250 0.50000 1.818e-3 2.675e-3 Growth hormone insensitivity syndrome with immune dysregulation Pancytopenia 1 1 ERCC6L2 (4) 0.06250 0.50000 1.818e-3 2.675e-3 Hereditary folate malabsorption Pancytopenia 1 1 SLC46A1 (4) 0.06250 0.50000 1.818e-3 2.675e-3 428 Hyperferritinemia Neurodegeneration with brain iron accumulation 1 1 FTL (4) 0.06250 0.50000 1.818e-3 2.675e-3 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Hypertriglyceridemia 1 1 ZPR1 (4) 0.03448 1.00000 1.818e-3 2.675e-3 57 Guanidinoacetate methyltransferase deficiency Hereditary parkinson disease 1 1 GAMT (3) 0.03448 1.00000 1.818e-3 2.675e-3 Hepatic lipase deficiency Lymphoid leukemia 1 1 LIPC (4) 0.03448 1.00000 1.818e-3 2.675e-3 hereditary spherocytosis Internet addiction disorder 1 1 ANK1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Gonadal dysgenesis Hydrops with lactic acidosis and sideroblastic anemia 1 1 LARS2 (5) 0.03448 1.00000 1.818e-3 2.675e-3 Hyperthermia Sickle cell anemia 1 1 GPX1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Hypokalemia-hypomagnesemia Lymphoid leukemia 1 1 SLC12A3 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Gonadal dysgenesis Ovarian teratoma 1 1 BMP15 (2) 0.03448 1.00000 1.818e-3 2.675e-3 149 Hereditary parkinson disease Parkinson-dementia syndrome 1 1 MAPT (5) 0.03448 1.00000 1.818e-3 2.675e-3 PCARE-related retinopathy Stargardt disease 1 1 PCARE (2) 0.03448 1.00000 1.818e-3 2.675e-3 7 Gonadal dysgenesis perrault syndrome 2 1 1 HARS2 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Gonadal dysgenesis perrault syndrome 3 1 1 CLPP (2) 0.03448 1.00000 1.818e-3 2.675e-3 Postaxial acrofacial dysostosis Sickle cell anemia 1 1 DHODH (5) 0.03448 1.00000 1.818e-3 2.675e-3 Multinodular goiter progressive encephalopathy with leukodystrophy due to DECR deficiency 1 1 NADK2 (2) 0.03448 1.00000 1.818e-3 2.675e-3 PROM1-related dominant retinopathy Stargardt disease 1 1 PROM1 (6) 0.03448 1.00000 1.818e-3 2.675e-3 PROM1-related recessive retinopathy Stargardt disease 1 1 PROM1 (6) 0.03448 1.00000 1.818e-3 2.675e-3 Idiopathic steroid-resistant nephrotic syndrome Ventriculomegaly with cystic kidney disease 1 1 CRB2 (4) 0.03448 1.00000 1.818e-3 2.675e-3 Hereditary parkinson disease Vesiculobullous skin disease 1 1 PRKN (2) 0.03448 1.00000 1.818e-3 2.675e-3 Internet addiction disorder X-linked creatine transporter deficiency 1 1 SLC6A8 (2) 0.03448 1.00000 1.818e-3 2.675e-3 LCA5-related retinopathy Stargardt disease 1 1 LCA5 (2) 0.03448 1.00000 1.818e-3 2.675e-3 leber congenital amaurosis 15 Stargardt disease 1 1 TULP1 (2) 0.03448 1.00000 1.818e-3 2.675e-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 2.675e-3 Diverticulitis Metaphyseal chondrodysplasia with retinitis pigmentosa 1 1 CWC27 (5) 0.03448 1.00000 1.818e-3 2.675e-3 316 1p31p32 microdeletion syndrome Multinodular goiter 1 1 NFIA (3) 0.03448 1.00000 1.818e-3 2.675e-3 immunodeficiency 25 Scleroderma 1 1 CD247 (2) 0.03448 1.00000 1.818e-3 2.675e-3 22 Idiopathic steroid-resistant nephrotic syndrome inherited focal segmental glomerulosclerosis 1 1 CD2AP (2) 0.03448 1.00000 1.818e-3 2.675e-3 Epithelial ovarian carcinoma Intellectual developmental disorder behavioral dysmorphic 1 1 PHF21A (5) 0.03448 1.00000 1.818e-3 2.675e-3 Intellectual developmental disorder growth seizures Mastocytosis 1 1 ABCA2 (4) 0.03448 1.00000 1.818e-3 2.675e-3 237 Hereditary parkinson disease Intellectual developmental disorder language neurodegenerative 1 1 NR4A2 (5) 0.03448 1.00000 1.818e-3 2.675e-3 Intellectual developmental disorder seizures movement Oral cavity carcinoma 1 1 PDE2A (4) 0.03448 1.00000 1.818e-3 2.675e-3 1 Intermittent porphyria Sickle cell anemia 1 1 HMBS (3) 0.03448 1.00000 1.818e-3 2.675e-3 Hypertriglyceridemia karyomegalic interstitial nephritis 1 1 FAN1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 multiple self-healing squamous epithelioma Scleroderma 1 1 TGFBR1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 22 Idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 12 1 1 NUP93 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 13 1 1 NUP205 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 18 1 1 NUP133 (2) 0.03448 1.00000 1.818e-3 2.675e-3 20 Idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 19 1 0 NUP160 (1) 0.03448 1.00000 1.818e-3 2.675e-3 20 Idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 20 1 1 TBC1D8B (2) 0.03448 1.00000 1.818e-3 2.675e-3 20 Idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 3 1 1 PLCE1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 20 Idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 8 1 1 ARHGDIA (2) 0.03448 1.00000 1.818e-3 2.675e-3 20 OPA1-related optic atrophy with or without extraocular features Stargardt disease 1 1 OPA1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Leber hereditary optic neuropathy RDH12-related dominant retinopathy 1 1 RDH12 (2) 0.03448 1.00000 1.818e-3 2.675e-3 RDH12-related dominant retinopathy Stargardt disease 1 1 RDH12 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Leber hereditary optic neuropathy RDH12-related recessive retinopathy 1 1 RDH12 (2) 0.03448 1.00000 1.818e-3 2.675e-3 RDH12-related recessive retinopathy Stargardt disease 1 1 RDH12 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Diverticulitis Retinitis pigmentosa with or without skeletal anomalies 1 1 CWC27 (2) 0.03448 1.00000 1.818e-3 2.675e-3 316 Leber hereditary optic neuropathy RP1-related dominant retinopathy 1 1 RP1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Leber hereditary optic neuropathy RP1-related recessive retinopathy 1 1 RP1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Internet addiction disorder Separation anxiety disorder 1 1 DRD4 (2) 0.03448 1.00000 1.818e-3 2.675e-3 SNRNP200-related dominant retinopathy Stargardt disease 1 1 SNRNP200 (2) 0.03448 1.00000 1.818e-3 2.675e-3 7 Hereditary parkinson disease spinocerebellar ataxia type 2 1 1 ATXN2 (4) 0.03448 1.00000 1.818e-3 2.675e-3 Mastocytosis sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 1 1 MOCS1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Erythrokeratodermia with ataxia Stargardt disease 1 1 ELOVL4 (6) 0.03448 1.00000 1.818e-3 2.675e-3 Culler-jones syndrome Exostoses 1 1 GLI2 (3) 0.03448 1.00000 1.818e-3 2.675e-3 Exostoses Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome 1 1 GLI2 (4) 0.03448 1.00000 1.818e-3 2.675e-3 Exostoses Vesiculobullous skin disease 1 0 PRKN (1) 0.03448 1.00000 1.818e-3 2.675e-3 Exostoses Seizures, scoliosis, and macrocephaly/microcephaly syndrome 1 1 EXT2 (7) 0.03448 1.00000 1.818e-3 2.675e-3 108 Exostoses exostoses, multiple, type 2 1 1 EXT2 (5) 0.03448 1.00000 1.818e-3 2.675e-3 108 Exostoses exostoses, multiple, type 1 1 1 EXT1 (6) 0.03448 1.00000 1.818e-3 2.675e-3 focal segmental glomerulosclerosis 3, susceptibility to Idiopathic steroid-resistant nephrotic syndrome 1 1 CD2AP (2) 0.03448 1.00000 1.818e-3 2.675e-3 focal segmental glomerulosclerosis 9 Idiopathic steroid-resistant nephrotic syndrome 1 1 CRB2 (2) 0.03448 1.00000 1.818e-3 2.675e-3 fragile x syndrome Gonadal dysgenesis 1 1 FMR1 (3) 0.03448 1.00000 1.818e-3 2.675e-3 fraser syndrome 3 Lymphoid leukemia 1 1 GRIP1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Hereditary parkinson disease 1 1 GBA1 (5) 0.03448 1.00000 1.818e-3 2.675e-3 114 Genetic lipodystrophy Leber hereditary optic neuropathy 1 0 EPHX1 (1) 0.03448 1.00000 1.818e-3 2.675e-3 Genetic renal tubular disease Lymphoid leukemia 1 1 SLC12A3 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Aromatic l-amino-acid decarboxylase deficiency Exostoses 1 1 DDC (4) 0.03448 1.00000 1.818e-3 2.675e-3 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Epithelial ovarian carcinoma 1 1 PPP3CA (4) 0.03448 1.00000 1.818e-3 2.675e-3 atypical hemolytic-uremic syndrome with B factor anomaly Sickle cell anemia 1 1 CFB (2) 0.03448 1.00000 1.818e-3 2.675e-3 autoimmune lymphoproliferative syndrome type 1 Diabetic angiopathies 1 1 FASLG (3) 0.03448 1.00000 1.818e-3 2.675e-3 63 autoimmune lymphoproliferative syndrome type 1 Diabetic peripheral angiopathy 1 1 FASLG (2) 0.03448 1.00000 1.818e-3 2.675e-3 63 Cednik syndrome Oral cavity carcinoma 1 1 SNAP29 (3) 0.03448 1.00000 1.818e-3 2.675e-3 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia Hereditary parkinson disease 1 1 RFC1 (5) 0.03448 1.00000 1.818e-3 2.675e-3 Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome Oral cavity carcinoma 1 1 SNAP29 (4) 0.03448 1.00000 1.818e-3 2.675e-3 CERKL-related retinopathy Stargardt disease 1 1 CERKL (2) 0.03448 1.00000 1.818e-3 2.675e-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 2.675e-3 chondrodysplasia with joint dislocations, gpapp type Diverticulitis 1 1 BPNT2 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Chromosome 2p16.3 deletion syndrome Internet addiction disorder 1 1 NRXN1 (3) 0.03448 1.00000 1.818e-3 2.675e-3 Chromosome 6q24-q25 deletion syndrome Diverticulitis 1 1 TAB2 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Chromosome xq27.3-q28 duplication syndrome Gonadal dysgenesis 1 1 FMR1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 CNGB3-related retinopathy Stargardt disease 1 1 CNGB3 (3) 0.03448 1.00000 1.818e-3 2.675e-3 Bilateral vestibulopathy Hereditary parkinson disease 1 1 RFC1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Brachydactyly-short stature-retinits pigmentosa syndrome Diverticulitis 1 1 CWC27 (3) 0.03448 1.00000 1.818e-3 2.675e-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 2.675e-3 acute myeloid leukemia Mastocytosis 1 1 CEBPA (2) 0.03448 1.00000 1.818e-3 2.675e-3 Alveolar capillary dysplasia Mastocytosis 1 1 FOXF1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 amyotrophic lateral sclerosis type 19 Internet addiction disorder 1 1 ERBB4 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Anterior cruciate ligament injury Scleroderma 1 0 CNR2 (1) 0.03448 1.00000 1.818e-3 2.675e-3 Apolipoprotein a5 deficiency Hypertriglyceridemia 1 1 APOA5 (5) 0.03448 1.00000 1.818e-3 2.675e-3 57 Congenital nephrotic syndrome Idiopathic steroid-resistant nephrotic syndrome 1 1 NPHS1 (4) 0.03448 1.00000 1.818e-3 2.675e-3 Congenital plasminogen activator inhibitor deficiency type 1 Diabetic angiopathies 1 1 SERPINE1 (4) 0.03448 1.00000 1.818e-3 2.675e-3 Congenital primary lymphedema of gordon Mastocytosis 1 1 VEGFC (3) 0.03448 1.00000 1.818e-3 2.675e-3 Corneal degeneration Stargardt disease 1 1 RDH8 (2) 0.03448 1.00000 1.818e-3 2.675e-3 7 Creatine transporter deficiency Internet addiction disorder 1 1 SLC6A8 (4) 0.03448 1.00000 1.818e-3 2.675e-3 Cystic kidney disease with ventriculomegaly Idiopathic steroid-resistant nephrotic syndrome 1 1 CRB2 (3) 0.03448 1.00000 1.818e-3 2.675e-3 Dominant hereditary optic atrophy Stargardt disease 1 0 OPA1 (1) 0.03448 1.00000 1.818e-3 2.675e-3 Early-onset obesity-hyperphagia-severe developmental delay syndrome Internet addiction disorder 1 1 NTRK2 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Ehlers-Danlos syndrome, spondylocheirodysplastic type Scleroderma 1 1 SLC39A13 (2) 0.03448 1.00000 1.818e-3 2.675e-3 cone-rod dystrophy 2 Stargardt disease 1 1 CRX (2) 0.03448 1.00000 1.818e-3 2.675e-3 7 Congenital alveolar capillary dysplasia Mastocytosis 1 1 FOXF1 (2) 0.03448 1.00000 1.818e-3 2.675e-3 congenital heart defects, multiple types, 2 Diverticulitis 1 1 TAB2 (2) 0.03448 1.00000 1.818e-3 2.675e-3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Stargardt disease 1 1 ELOVL4 (6) 0.03448 1.00000 1.818e-3 2.675e-3 Childhood-onset epilepsy syndrome Nocturnal frontal lobe epilepsy 1 1 KCNT1 (6) 0.08333 0.33333 1.753e-3 2.607e-3 423 Childhood-onset epilepsy syndrome Epilepsy of infancy with migrating focal seizures 1 1 KCNT1 (3) 0.08333 0.33333 1.753e-3 2.607e-3 Childhood-onset epilepsy syndrome Malignant migrating partial seizures of infancy 1 1 KCNT1 (2) 0.08333 0.33333 1.753e-3 2.607e-3 Circadian rhythm sleep disorder Splenic disease 1 0 CNTN5 (1) 0.08333 0.33333 1.753e-3 2.607e-3 Distal renal tubular acidosis Hereditary xerocytosis 1 1 SLC4A1 (6) 0.08333 0.33333 1.753e-3 2.607e-3 431 Distal renal tubular acidosis Xerocytosis 1 1 SLC4A1 (6) 0.08333 0.33333 1.753e-3 2.607e-3 431 Distal renal tubular acidosis Hennekam syndrome 1 1 CCBE1 (5) 0.08333 0.33333 1.753e-3 2.607e-3 Dystonia musculorum deformans Early-onset generalized limb-onset dystonia 1 1 TOR1A (5) 0.08333 0.33333 1.753e-3 2.607e-3 172 Early-onset generalized limb-onset dystonia Genetic torsion dystonia 1 1 TOR1A (4) 0.08333 0.33333 1.753e-3 2.607e-3 172 Angiokeratoma Fabry disease 1 1 GLA (7) 0.08333 0.33333 1.753e-3 2.607e-3 Congenital vertebral-cardiac-renal anomalies syndrome Vitamin deficiency disorder 1 1 NADSYN1 (3) 0.08333 0.33333 1.753e-3 2.607e-3 Corneal ulcer Hennekam syndrome 1 1 CCBE1 (6) 0.08333 0.33333 1.753e-3 2.607e-3 Benign mucous membrane pemphigoid with ocular involvement Follicular lymphoma 1 1 HLA-DRB1 (2) 0.08333 0.33333 1.753e-3 2.607e-3 Bouillaud’s disease Follicular lymphoma 1 1 HLA-DRB1 (2) 0.08333 0.33333 1.753e-3 2.607e-3 Imerslund-grasbeck syndrome Vitamin deficiency disorder 1 1 CUBN (6) 0.08333 0.33333 1.753e-3 2.607e-3 100 Three-vessel coronary artery disease Thromboembolic pulmonary hypertension 1 1 ABO (2) 0.08333 0.33333 1.753e-3 2.607e-3 Chondrosarcoma Trichorhinophalangeal syndrome 1 1 EXT1 (5) 0.08333 0.33333 1.753e-3 2.607e-3 Haddad syndrome Hyperphenylalaninemia 1 0 PAH (1) 0.08333 0.33333 1.753e-3 2.607e-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 2.607e-3 progressive myoclonus epilepsy Right atrial isomerism 1 1 CERS1 (2) 0.08333 0.33333 1.753e-3 2.607e-3 Sitosterolemia Tubulointerstitial kidney disease 1 1 ABCG5 (7) 0.08333 0.33333 1.753e-3 2.607e-3 Ellis-van creveld syndrome Sitosterolemia 1 1 DYNC2LI1 (3) 0.08333 0.33333 1.753e-3 2.607e-3 neurometabolic disorder due to serine deficiency Osteomyelitis 1 1 PHGDH (2) 0.08333 0.33333 1.753e-3 2.607e-3 Aneurysm multisystemic smooth muscle dysfunction syndrome 1 1 ACTA2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Aneurysm neonatal/infantile epilepsy syndrome 1 1 KCNH5 (2) 0.03571 1.00000 1.753e-3 2.607e-3 50 Aneurysm nephrotic syndrome, type 3 1 1 PLCE1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 nijmegen breakage syndrome Rhabdomyosarcoma 1 1 NBN (2) 0.03571 1.00000 1.753e-3 2.607e-3 39 Aneurysm Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 1 1 ZPR1 (4) 0.03571 1.00000 1.753e-3 2.607e-3 Bladder exstrophy and epispadias complex Growth retardation, alopecia, pseudoanodontia and optic atrophy 1 1 ANTXR1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Hashimoto disease hyper-IgE recurrent infection syndrome 5, autosomal recessive 1 1 IL6R (3) 0.03571 1.00000 1.753e-3 2.607e-3 Hyperinsulinism-hyperammonemia syndrome Hypoglycemia 1 1 GLUD1 (5) 0.03571 1.00000 1.753e-3 2.607e-3 35 Hepatolenticular degeneration hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1 1 AHCY (3) 0.03571 1.00000 1.753e-3 2.607e-3 Hypoglycemia hypoinsulinemic hypoglycemia and body hemihypertrophy 1 1 AKT2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Sezary syndrome T-B+ severe combined immunodeficiency due to gamma chain deficiency 1 1 IL2RG (2) 0.03571 1.00000 1.753e-3 2.607e-3 Methylmalonic acidemia thrombocytopenia 4 1 1 CYCS (3) 0.03571 1.00000 1.753e-3 2.607e-3 Teratozoospermia TTLL5-related retinopathy 1 1 TTLL5 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Rhabdomyosarcoma Uveal coloboma-cleft lip and palate-intellectual disability 1 1 YAP1 (5) 0.03571 1.00000 1.753e-3 2.607e-3 Cortical development malformation X-linked dominant chondrodysplasia chassaing-lacombe type 1 1 HDAC6 (4) 0.03571 1.00000 1.753e-3 2.607e-3 Teratozoospermia X-linked intellectual disability, Cabezas type 1 1 CUL4B (2) 0.03571 1.00000 1.753e-3 2.607e-3 11 Sezary syndrome X-linked severe combined immunodeficiency 1 1 IL2RG (2) 0.03571 1.00000 1.753e-3 2.607e-3 Bladder exstrophy and epispadias complex gapo syndrome 1 1 ANTXR1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 glycogen storage disease I Hypoglycemia 1 1 G6PC1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 35 Cortical development malformation goldberg-shprintzen syndrome 1 1 KIFBP (2) 0.03571 1.00000 1.753e-3 2.607e-3 144 IL21-related infantile inflammatory bowel disease Progressive supranuclear palsy 1 1 IL21 (2) 0.03571 1.00000 1.753e-3 2.607e-3 357 immune dysregulation, autoimmunity, and autoinflammation Sezary syndrome 1 1 PLCG1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 immunodeficiency 11b with atopic dermatitis Sezary syndrome 1 1 CARD11 (2) 0.03571 1.00000 1.753e-3 2.607e-3 immunodeficiency 123 with hpv-related verrucosis Sezary syndrome 1 1 CD28 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Hashimoto disease immunodeficiency 60 1 1 BACH2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 inborn disorder of cobalamin metabolism and transport Methylmalonic acidemia 1 1 MMADHC (7) 0.03571 1.00000 1.753e-3 2.607e-3 Hashimoto disease Interleukin 6 quantitative trait 1 1 IL6R (4) 0.03571 1.00000 1.753e-3 2.607e-3 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Rhabdomyosarcoma 1 1 CDKN1C (4) 0.03571 1.00000 1.753e-3 2.607e-3 Methylmalonic acidemia methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 1 1 MCEE (5) 0.03571 1.00000 1.753e-3 2.607e-3 198 Methylmalonic acidemia methylmalonic acidemia due to transcobalamin receptor defect 1 1 CD320 (7) 0.03571 1.00000 1.753e-3 2.607e-3 Methylmalonic acidemia methylmalonic acidemia with homocystinuria, type cblJ 1 1 ABCD4 (7) 0.03571 1.00000 1.753e-3 2.607e-3 198 Methylmalonic acidemia methylmalonic aciduria and homocystinuria type cblF 1 1 LMBRD1 (7) 0.03571 1.00000 1.753e-3 2.607e-3 Methylmalonic acidemia methylmalonic aciduria, cblA type 1 1 MMAA (7) 0.03571 1.00000 1.753e-3 2.607e-3 Methylmalonic acidemia methylmalonic aciduria, cblb type 1 1 MMAB (7) 0.03571 1.00000 1.753e-3 2.607e-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 2.607e-3 microphthalmia, syndromic 2 Rhabdomyosarcoma 1 1 BCOR (2) 0.03571 1.00000 1.753e-3 2.607e-3 mosaic variegated aneuploidy syndrome 1 Rhabdomyosarcoma 1 1 BUB1B (3) 0.03571 1.00000 1.753e-3 2.607e-3 Multiple epiphyseal dysplasia with early-onset diabetes mellitus Progressive supranuclear palsy 1 1 EIF2AK3 (3) 0.03571 1.00000 1.753e-3 2.607e-3 357 Bladder exstrophy and epispadias complex RAB23-related Carpenter syndrome 1 1 RAB23 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Ruijs-aalfs syndrome Teratozoospermia 1 1 SPRTN (3) 0.03571 1.00000 1.753e-3 2.607e-3 11 Bladder exstrophy and epispadias complex Schopf-schulz-passarge syndrome 1 1 WNT10A (3) 0.03571 1.00000 1.753e-3 2.607e-3 Rhabdomyosarcoma SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome 1 1 SETD2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Rhabdomyosarcoma SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 1 1 SETD2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 severe combined immunodeficiency due to CARD11 deficiency Sezary syndrome 1 1 CARD11 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Sezary syndrome snijders blok-campeau syndrome 1 1 CHD3 (2) 0.03571 1.00000 1.753e-3 2.607e-3 214 spermatogenic failure 18 Teratozoospermia 1 1 DNAH1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 11 spermatogenic failure 38 Teratozoospermia 1 1 ARMC2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 11 spermatogenic failure 56 Teratozoospermia 1 1 DNAH10 (2) 0.03571 1.00000 1.753e-3 2.607e-3 11 Hashimoto disease spinocerebellar ataxia type 2 1 1 ATXN2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 spinocerebellar ataxia, autosomal recessive 25 Teratozoospermia 1 1 ATG5 (3) 0.03571 1.00000 1.753e-3 2.607e-3 Hashimoto disease Striatal neurodegeneration 1 1 PDE8B (4) 0.03571 1.00000 1.753e-3 2.607e-3 Parkinson-dementia syndrome Progressive supranuclear palsy 1 1 MAPT (7) 0.03571 1.00000 1.753e-3 2.607e-3 primary ciliary dyskinesia 5 Teratozoospermia 1 1 HYDIN (2) 0.03571 1.00000 1.753e-3 2.607e-3 Middle ear cholesteatoma Progressive supranuclear palsy 1 1 IL2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Progressive supranuclear palsy Wolcott-rallison syndrome 1 1 EIF2AK3 (5) 0.03571 1.00000 1.753e-3 2.607e-3 357 congenital myopathy with myasthenic-like onset Rhabdomyosarcoma 1 1 PAX7 (3) 0.03571 1.00000 1.753e-3 2.607e-3 Coloboma, cleft lip-palate and mental retardation syndrome Rhabdomyosarcoma 1 1 YAP1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Combined malonic and methylmalonic acidemia Methylmalonic acidemia 1 1 ACSF3 (6) 0.03571 1.00000 1.753e-3 2.607e-3 Combined malonic and methylmalonic aciduria Methylmalonic acidemia 1 1 ACSF3 (3) 0.03571 1.00000 1.753e-3 2.607e-3 Congenital hypoplasia of penis Cortical development malformation 1 0 PHF6 (1) 0.03571 1.00000 1.753e-3 2.607e-3 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Hepatolenticular degeneration 1 1 PPP3CA (4) 0.03571 1.00000 1.753e-3 2.607e-3 Benta disease Sezary syndrome 1 1 CARD11 (5) 0.03571 1.00000 1.753e-3 2.607e-3 Acro-dermo-ungual-lacrimal-tooth syndrome Bladder exstrophy and epispadias complex 1 1 TP63 (2) 0.03571 1.00000 1.753e-3 2.607e-3 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Bladder exstrophy and epispadias complex 1 1 TP63 (5) 0.03571 1.00000 1.753e-3 2.607e-3 30 Borjeson-forssman-lehmann syndrome Cortical development malformation 1 1 PHF6 (7) 0.03571 1.00000 1.753e-3 2.607e-3 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Hepatolenticular degeneration 1 1 SASH1 (3) 0.03571 1.00000 1.753e-3 2.607e-3 AKT2-related familial partial lipodystrophy Hypoglycemia 1 1 AKT2 (2) 0.03571 1.00000 1.753e-3 2.607e-3 ALG11-congenital disorder of glycosylation Hepatolenticular degeneration 1 1 ALG11 (2) 0.03571 1.00000 1.753e-3 2.607e-3 43 Alpha-mannosidosis Methylmalonic acidemia 1 1 MAN2B1 (4) 0.03571 1.00000 1.753e-3 2.607e-3 198 Cervicitis Sezary syndrome 1 1 IL32 (2) 0.03571 1.00000 1.753e-3 2.607e-3 214 Chromosome 16p13.3 deletion syndrome Sezary syndrome 1 1 CREBBP (2) 0.03571 1.00000 1.753e-3 2.607e-3 ciliary dyskinesia, primary, 45 Teratozoospermia 1 1 TTC12 (2) 0.03571 1.00000 1.753e-3 2.607e-3 11 ciliary dyskinesia, primary, 47, and lissencephaly Rhabdomyosarcoma 1 1 TP73 (2) 0.03571 1.00000 1.753e-3 2.607e-3 39 Cobalamin metabolism disorder Methylmalonic acidemia 1 1 MMADHC (6) 0.03571 1.00000 1.753e-3 2.607e-3 Cortical development malformation Dicarboxylic aminoaciduria 1 1 SLC1A1 (6) 0.03571 1.00000 1.753e-3 2.607e-3 Cortical development malformation Dicarboxylicaminoaciduria 1 1 SLC1A1 (2) 0.03571 1.00000 1.753e-3 2.607e-3 Dyschromatosis Hepatolenticular degeneration 1 0 SASH1 (1) 0.03571 1.00000 1.753e-3 2.607e-3 Bladder exstrophy and epispadias complex ectodermal dysplasia WNT10A related 1 1 WNT10A (2) 0.03571 1.00000 1.753e-3 2.607e-3 Discoid lupus erythematosus Motor skills disorder 1 1 OGG1 (2) 0.06667 0.50000 1.688e-3 2.529e-3 Discoid lupus erythematosus Senile cataract 1 0 OGG1 (1) 0.06667 0.50000 1.688e-3 2.529e-3 Dna repair-deficiency disorders Senile cataract 1 1 WRN (2) 0.06667 0.50000 1.688e-3 2.529e-3 Dysautonomia Pruritus 1 1 TPSAB1 (2) 0.06667 0.50000 1.688e-3 2.529e-3 Benign recurrent intrahepatic cholestasis Pruritus 1 1 ABCB11 (4) 0.06667 0.50000 1.688e-3 2.529e-3 Cortisone reductase deficiency Omphalocele exstrophy imperforate anus 1 1 HSD11B1 (5) 0.06667 0.50000 1.688e-3 2.529e-3 Constitutional mismatch repair deficiency Cystic leukoencephalopathy 1 1 RNASET2 (4) 0.06667 0.50000 1.688e-3 2.529e-3 39 Agammaglobulinemia Combined immunodeficiency with facio-oculo-skeletal anomalies 1 1 PIK3CD (2) 0.06667 0.50000 1.688e-3 2.529e-3 Congenital leukocyte adherence deficiency Platelet disorder 1 1 FERMT3 (2) 0.06667 0.50000 1.688e-3 2.529e-3 Cerebral folate deficiency Congenital abnormalities 1 1 FOLR1 (3) 0.06667 0.50000 1.688e-3 2.529e-3 Chronic progressive external ophthalmoplegia Progressive external ophthalmoplegia 1 1 RRM2B (4) 0.06667 0.50000 1.688e-3 2.529e-3 Birt-hogg-dube syndrome Omphalocele exstrophy imperforate anus 1 1 FLCN (7) 0.06667 0.50000 1.688e-3 2.529e-3 Blepharitis Oculocutaneous albinism 1 1 MC1R (5) 0.06667 0.50000 1.688e-3 2.529e-3 Breast fibrocystic disease Vertebral column disorder 1 0 CSMD1 (1) 0.06667 0.50000 1.688e-3 2.529e-3 17p11.2 microduplication syndrome Omphalocele exstrophy imperforate anus 1 1 FLCN (2) 0.06667 0.50000 1.688e-3 2.529e-3 1p36 deletion syndrome Dyssegmental dysplasia 1 1 HSPG2 (4) 0.06667 0.50000 1.688e-3 2.529e-3 146 Adrenoleukodystrophy Congestive ophthalmopathy 1 1 SCD (2) 0.06667 0.50000 1.688e-3 2.529e-3 Anaptoglobinemia Optic neuritis 1 1 ATP7B (2) 0.06667 0.50000 1.688e-3 2.529e-3 Peho syndrome Sensory neuropathy 1 1 KIF1A (2) 0.06667 0.50000 1.688e-3 2.529e-3 173 Essential thrombocythemia Periapical periodontitis 1 1 FGF2 (2) 0.06667 0.50000 1.688e-3 2.529e-3 Byzanthine arch palate Perisylvian polymicrogyria 1 0 NSDHL (1) 0.06667 0.50000 1.688e-3 2.529e-3 398 Post-operative myocardial infarction Rheumatic disease 1 0 FHIT (1) 0.06667 0.50000 1.688e-3 2.529e-3 Apolipoprotein a-i deficiency Posterior cortical atrophy 1 1 ABCA1 (3) 0.06667 0.50000 1.688e-3 2.529e-3 Parietal foramina Posterior cortical atrophy 1 1 MSX2 (7) 0.06667 0.50000 1.688e-3 2.529e-3 108 Omphalocele exstrophy imperforate anus Potocki-lupski syndrome 1 1 FLCN (3) 0.06667 0.50000 1.688e-3 2.529e-3 Hyperhomocysteinemia Large cell carcinoma 1 1 PYCARD (2) 0.06667 0.50000 1.688e-3 2.529e-3 Congenital abnormalities Townes-brocks syndrome 1 1 SALL1 (7) 0.06667 0.50000 1.688e-3 2.529e-3 Congenital abnormalities Xq27.3 q28 duplication syndrome 1 1 FMR1 (3) 0.06667 0.50000 1.688e-3 2.529e-3 Costello syndrome Noonan syndrome-like disorder with loose anagen hair 1 1 SHOC2 (2) 0.06667 0.50000 1.688e-3 2.529e-3 49 Growth hormone insensitivity, partial Pseudohypoparathyroidism 1 1 GHSR (2) 0.06667 0.50000 1.688e-3 2.529e-3 Essential thrombocythemia Hemorrhagic stroke 1 1 PDGFA (3) 0.06667 0.50000 1.688e-3 2.529e-3 Hereditary folate malabsorption Hyperhomocysteinemia 1 1 SLC46A1 (4) 0.06667 0.50000 1.688e-3 2.529e-3 Basal ganglia disease Hyperferritinemia 1 1 FTL (3) 0.06667 0.50000 1.688e-3 2.529e-3 Eosinophilic leukemia Thyroid gland neoplasms 1 1 PDGFRA (2) 0.06667 0.50000 1.688e-3 2.529e-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 2.529e-3 Genitourinary disease Malunion fracture 1 0 BCAS3 (1) 0.06667 0.50000 1.688e-3 2.529e-3 Gm1 gangliosidosis Progressive intrahepatic cholestasis 1 1 GLB1 (6) 0.06667 0.50000 1.688e-3 2.529e-3 Platelet disorder qualitative platelet defect 1 1 TBXA2R (3) 0.06667 0.50000 1.688e-3 2.529e-3 Follicular cyst Malunion fracture 1 1 SCARB1 (3) 0.06667 0.50000 1.688e-3 2.529e-3 Giant cell glioblastoma Mountain sickness 1 1 TACC1 (2) 0.06667 0.50000 1.688e-3 2.529e-3 Leukodystrophy leukodystrophy, hypomyelinating, 18 1 1 DEGS1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 59 Leukodystrophy leukodystrophy, hypomyelinating, 25 1 1 TMEM163 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Leukodystrophy Leukoencephalopathy 1 1 AARS1 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Cardiac arrest lissencephaly 10 1 1 CEP85L (2) 0.03704 1.00000 1.689e-3 2.529e-3 3 Amino acid metabolism disorder lysinuric protein intolerance 1 1 SLC7A7 (3) 0.03704 1.00000 1.689e-3 2.529e-3 112 Dyskeratosis congenita MECOM-associated syndrome 1 1 MECOM (2) 0.03704 1.00000 1.689e-3 2.529e-3 Hydrocephalus megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 1 1 CCND2 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder methionine adenosyltransferase deficiency 1 1 MAT1A (3) 0.03704 1.00000 1.689e-3 2.529e-3 112 Amino acid metabolism disorder methylmalonate semialdehyde dehydrogenase deficiency 1 1 ALDH6A1 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Congenital ocular coloboma microphthalmia, syndromic 12 1 1 RARB (2) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder Guanidinoacetate methyltransferase deficiency 1 1 GAMT (4) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder Hmg-coa lyase deficiency 1 1 HMGCL (4) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder Hydroxymethylglutaryl-coa lyase deficiency 1 1 HMGCL (2) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1 1 AHCY (3) 0.03704 1.00000 1.689e-3 2.529e-3 112 hypomyelinating leukodystrophy 9 Leukodystrophy 1 1 RARS1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 59 Congenital ocular coloboma Thauvin-robinet-faivre syndrome 1 1 FIBP (3) 0.03704 1.00000 1.689e-3 2.529e-3 Congenital ocular coloboma Uveal coloboma-cleft lip and palate-intellectual disability 1 1 YAP1 (4) 0.03704 1.00000 1.689e-3 2.529e-3 Leukodystrophy Wiedemann-rautenstrauch syndrome 1 1 POLR3A (3) 0.03704 1.00000 1.689e-3 2.529e-3 59 Amino acid metabolism disorder xeroderma pigmentosum group C 1 1 XPC (3) 0.03704 1.00000 1.689e-3 2.529e-3 Dyskinesia Periventricular heterotopia with microcephaly, autosomal recessive 1 1 ARFGEF2 (5) 0.03704 1.00000 1.689e-3 2.529e-3 Hydrocephalus Periventricular heterotopia with microcephaly, autosomal recessive 1 1 ARFGEF2 (4) 0.03704 1.00000 1.689e-3 2.529e-3 Dyskinesia Periventricular laminar heterotopia 1 1 ARFGEF2 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Hydrocephalus Periventricular laminar heterotopia 1 0 ARFGEF2 (1) 0.03704 1.00000 1.689e-3 2.529e-3 Arthritis phelan-mcdermid syndrome 1 1 SHANK3 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Language development disorders phelan-mcdermid syndrome 1 1 SHANK3 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder Phosphoserine phosphatase deficiency 1 1 PSPH (3) 0.03704 1.00000 1.689e-3 2.529e-3 Leukodystrophy POLR3A-related disorder 1 1 POLR3A (2) 0.03704 1.00000 1.689e-3 2.529e-3 59 Leukodystrophy POLR3B-related disorder 1 1 POLR3B (2) 0.03704 1.00000 1.689e-3 2.529e-3 59 Hydrocephalus primary ciliary dyskinesia 5 1 1 HYDIN (3) 0.03704 1.00000 1.689e-3 2.529e-3 Arthritis Primary immunodeficiency with defective natural killer cell cytotoxicity 1 1 FCGR3A (4) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 1 1 EIF2AK4 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder immunodeficiency, common variable, 2 1 1 TNFRSF13B (2) 0.03704 1.00000 1.689e-3 2.529e-3 Dyskinesia inherited neurodegenerative disorder 1 1 KIF5A (2) 0.03704 1.00000 1.689e-3 2.529e-3 Dyskinesia Intellectual developmental disorder dysmorphic skeletal hair 1 1 BCL11B (3) 0.03704 1.00000 1.689e-3 2.529e-3 Intellectual developmental disorder hemoglobin persistence Language development disorders 1 1 BCL11A (3) 0.03704 1.00000 1.689e-3 2.529e-3 Anhedonia Intellectual developmental disorder hypotonia spastic sleep 1 1 ANK3 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Dyskinesia Intellectual developmental disorder speech dysmorphic t-cell 1 1 BCL11B (5) 0.03704 1.00000 1.689e-3 2.529e-3 Cardiac arrest intrinsic cardiomyopathy 1 1 PLN (2) 0.03704 1.00000 1.689e-3 2.529e-3 3 Amino acid metabolism disorder isovaleric acidemia 1 1 IVD (2) 0.03704 1.00000 1.689e-3 2.529e-3 Cystic kidney disease joubert syndrome 24 1 1 TCTN2 (2) 0.03704 1.00000 1.689e-3 2.529e-3 8 Congenital ocular coloboma Juvenile myoclonic epilepsy 1 1 CILK1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 krabbe disease Leukodystrophy 1 1 GALC (2) 0.03704 1.00000 1.689e-3 2.529e-3 multisystemic smooth muscle dysfunction syndrome Urethral obstruction 1 1 ACTA2 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Hydrocephalus myopathy caused by variation in POMGNT1 1 1 POMGNT1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Cystic kidney disease nephronophthisis 16 1 1 ANKS6 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Cystic kidney disease nephronophthisis 2 1 1 INVS (2) 0.03704 1.00000 1.689e-3 2.529e-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 2.529e-3 Bradycardia Neurogenic bladder 1 0 CHRM2 (1) 0.03704 1.00000 1.689e-3 2.529e-3 66 Congenital ocular coloboma Neurooculocardio-genitourinary syndrome 1 1 WDR37 (6) 0.03704 1.00000 1.689e-3 2.529e-3 25 Congenital ocular coloboma Orbital disease 1 1 RARB (2) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder ornithine translocase deficiency 1 1 SLC25A15 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Cardiac arrest Repolarization syndrome 1 0 CACNB2 (1) 0.03704 1.00000 1.689e-3 2.529e-3 Bradycardia Retractile testis 1 1 GNAI2 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Dyskeratosis congenita Short telomere syndrome 1 1 ACD (6) 0.03704 1.00000 1.689e-3 2.529e-3 Cardiac arrest sick sinus syndrome 2, autosomal dominant 1 1 HCN4 (2) 0.03704 1.00000 1.689e-3 2.529e-3 3 Hydrocephalus SMARCC1-associated developmental dysgenesis syndrome 1 1 SMARCC1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 298 spondylometaphyseal dysplasia, 'corner fracture' type Urethral obstruction 1 1 FN1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Leukodystrophy Sterol carrier protein 2 deficiency 1 1 SCP2 (4) 0.03704 1.00000 1.689e-3 2.529e-3 Cystic kidney disease FAT4-related neurodevelopmental disorder 1 1 FAT4 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Focal epilepsy with speech disorder and impaired intellectual development Language development disorders 1 1 GRIN2A (3) 0.03704 1.00000 1.689e-3 2.529e-3 glomerulopathy with fibronectin deposits 2 Urethral obstruction 1 1 FN1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 glutaric acidemia type 3 Language development disorders 1 1 SUGCT (2) 0.03704 1.00000 1.689e-3 2.529e-3 1p21.3 microdeletion syndrome Language development disorders 1 1 DPYD (3) 0.03704 1.00000 1.689e-3 2.529e-3 AIPL1-related retinopathy Dyskinesia 1 1 AIPL1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 ALG6-congenital disorder of glycosylation 1C Cystic kidney disease 1 1 ALG6 (2) 0.03704 1.00000 1.689e-3 2.529e-3 8 Alstrom syndrome Leukodystrophy 1 1 ALMS1 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Aminoaciduria Urethral obstruction 1 1 CLTRN (2) 0.03704 1.00000 1.689e-3 2.529e-3 80 amyotrophic lateral sclerosis type 19 Language development disorders 1 1 ERBB4 (2) 0.03704 1.00000 1.689e-3 2.529e-3 amyotrophic lateral sclerosis, susceptibility to, 25 Dyskinesia 1 1 KIF5A (2) 0.03704 1.00000 1.689e-3 2.529e-3 Congenital plasminogen activator inhibitor deficiency type 1 Urethral obstruction 1 1 SERPINE1 (5) 0.03704 1.00000 1.689e-3 2.529e-3 Continuous spike and wave during sleep syndrome Language development disorders 1 1 GRIN2A (3) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder Coronary vessel anomalies 1 1 GCLC (2) 0.03704 1.00000 1.689e-3 2.529e-3 Cortical dysplasia-focal epilepsy syndrome Language development disorders 1 1 CNTNAP2 (4) 0.03704 1.00000 1.689e-3 2.529e-3 craniosynostosis 4 Language development disorders 1 1 ERF (3) 0.03704 1.00000 1.689e-3 2.529e-3 Creutzfeldt-jakob disease SRD5A3-congenital disorder of glycosylation 1 1 SRD5A3 (3) 0.03704 1.00000 1.689e-3 2.529e-3 318 Bradycardia Cyp2d6 deficiency 1 1 CYP2D6 (2) 0.03704 1.00000 1.689e-3 2.529e-3 66 Amino acid metabolism disorder Cystathioninuria 1 1 CTH (6) 0.03704 1.00000 1.689e-3 2.529e-3 112 Deafness with congenital and adult-onset progressive leukodystrophy Leukodystrophy 1 1 KARS1 (3) 0.03704 1.00000 1.689e-3 2.529e-3 developmental and epileptic encephalopathy, 29 Leukodystrophy 1 1 AARS1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder Developmental delay due to metabolic enzyme deficiency 1 1 ALDH6A1 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Developmental delay with dysmorphic facies and brain anomalies Leukodystrophy 1 1 U2AF2 (4) 0.03704 1.00000 1.689e-3 2.529e-3 59 Dihydropyrimidine dehydrogenase deficiency Language development disorders 1 1 DPYD (6) 0.03704 1.00000 1.689e-3 2.529e-3 Cardiac arrest dilated cardiomyopathy 1BB 1 1 DSG2 (2) 0.03704 1.00000 1.689e-3 2.529e-3 3 Dkc1-related disorder Dyskeratosis congenita 1 1 DKC1 (7) 0.03704 1.00000 1.689e-3 2.529e-3 Cardiac arrest duane retraction syndrome 2 1 1 CHN1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Arthritis Dysbiosis 1 1 TLR4 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Dyskeratosis congenita dyskeratosis congenita, autosomal recessive 2 1 1 NHP2 (6) 0.03704 1.00000 1.689e-3 2.529e-3 77 Dyskeratosis congenita dyskeratosis congenita, autosomal recessive 3 1 1 WRAP53 (8) 0.03704 1.00000 1.689e-3 2.529e-3 77 Dyskeratosis congenita dyskeratosis congenita, x-linked 1 1 DKC1 (7) 0.03704 1.00000 1.689e-3 2.529e-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 2.529e-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 2.529e-3 Amino acid metabolism disorder Arginase deficiency 1 1 ARG1 (5) 0.03704 1.00000 1.689e-3 2.529e-3 Amino acid metabolism disorder Argininosuccinic aciduria 1 1 ASL (7) 0.03704 1.00000 1.689e-3 2.529e-3 ATF6-related retinopathy Creutzfeldt-jakob disease 1 1 ATF6 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Anhedonia ATP1A3-associated neurological disorder 1 1 ATP1A3 (2) 0.03704 1.00000 1.689e-3 2.529e-3 196 Arthritis Autoinflammation and autoimmunity, systemic, with immune dysregulation 1 1 1 COPA (2) 0.03704 1.00000 1.689e-3 2.529e-3 bardet-biedl syndrome 16 Cystic kidney disease 1 1 SDCCAG8 (2) 0.03704 1.00000 1.689e-3 2.529e-3 8 Anhedonia Behavior disorders 1 0 SLC6A4 (1) 0.03704 1.00000 1.689e-3 2.529e-3 Beta-hexosaminidase a deficiency Leukodystrophy 1 0 HEXA (1) 0.03704 1.00000 1.689e-3 2.529e-3 Biliary-renal-neuro-skeletal syndrome Hydrocephalus 1 1 IFT56 (3) 0.03704 1.00000 1.689e-3 2.529e-3 Anhedonia Capos syndrome 1 1 ATP1A3 (2) 0.03704 1.00000 1.689e-3 2.529e-3 196 Cardiac arrest Cardiogenetic disease 1 1 CACNB2 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Cataract-microcornea-metabolic syndrome Congenital ocular coloboma 1 1 SLC16A12 (2) 0.03704 1.00000 1.689e-3 2.529e-3 25 Coloboma, cleft lip-palate and mental retardation syndrome Congenital ocular coloboma 1 0 YAP1 (1) 0.03704 1.00000 1.689e-3 2.529e-3 colobomatous microphthalmia-rhizomelic dysplasia syndrome Congenital ocular coloboma 1 1 MAB21L2 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Anhedonia Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 1 1 ATP1A3 (5) 0.03704 1.00000 1.689e-3 2.529e-3 196 Charcot-Marie-Tooth disease axonal type 2N Leukodystrophy 1 1 AARS1 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Christianson syndrome Leukodystrophy 1 1 SLC9A6 (5) 0.03704 1.00000 1.689e-3 2.529e-3 Chromosome 2p16.3 deletion syndrome Language development disorders 1 1 NRXN1 (3) 0.03704 1.00000 1.689e-3 2.529e-3 ciliary dyskinesia, primary, 40 Hydrocephalus 1 1 DNAH9 (2) 0.03704 1.00000 1.689e-3 2.529e-3 Osteonecrosis Williams syndrome 2 2 CLIP2 (3), GTF2IRD1 (4) 0.03226 0.08333 1.666e-3 2.522e-3 Auditory neuropathy Hypomyelinating leukodystrophy 2 2 TUBB4A (4), ATP11A (4) 0.03333 0.06667 1.647e-3 2.495e-3 Bilateral microphthalmos Vitamin a deficiency 1 1 RBP4 (2) 0.10000 0.20000 1.623e-3 2.459e-3 Choanal atresia syndrome Wiedemann-steiner syndrome 1 0 CHD7 (1) 0.10000 0.20000 1.623e-3 2.459e-3 Ewing sarcoma Neuropathy, congenital hypomyelinating 1 1 EGR2 (3) 0.10000 0.20000 1.623e-3 2.459e-3 Facioscapulohumeral muscular dystrophy Immunodeficiency-centromeric instability-facial anomalies syndrome 1 1 DNMT3B (4) 0.10000 0.20000 1.623e-3 2.459e-3 Bronchus cancer Frontal lobe epilepsy 1 1 CHRNA4 (3) 0.10000 0.20000 1.623e-3 2.459e-3 Endometrial stromal sarcoma Miller-dieker syndrome 1 1 YWHAE (2) 0.10000 0.20000 1.623e-3 2.459e-3 225 Endometrial stromal sarcoma Weaver syndrome 1 1 SUZ12 (3) 0.10000 0.20000 1.623e-3 2.459e-3 Disorder of sex development Gallbladder neoplasms 1 1 RXFP2 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Dominant hereditary optic atrophy Ventricular remodeling 1 1 OPA1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Amblyopia Dysbiosis 1 1 TLR4 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Gallbladder neoplasms 1 1 UCHL1 (4) 0.03846 1.00000 1.624e-3 2.459e-3 312 Ehlers-Danlos syndrome, spondylocheirodysplastic type Spondyloepimetaphyseal dysplasia 1 1 SLC39A13 (3) 0.03846 1.00000 1.624e-3 2.459e-3 Amelogenesis imperfecta Enamel-renal syndrome 1 1 FAM20A (6) 0.03846 1.00000 1.624e-3 2.459e-3 390 Cerebellar ataxia with hearing loss Ventricular remodeling 1 1 SLC9A1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Chagas cardiomyopathy Cousin syndrome 1 1 TBX15 (3) 0.03846 1.00000 1.624e-3 2.459e-3 Chagas cardiomyopathy Pelviscapular dysplasia 1 1 TBX15 (5) 0.03846 1.00000 1.624e-3 2.459e-3 Chagas cardiomyopathy Neonatal anemia 1 1 SPTB (3) 0.03846 1.00000 1.624e-3 2.459e-3 271 Chagas cardiomyopathy Perinatal hemolytic anemia 1 1 SPTB (2) 0.03846 1.00000 1.624e-3 2.459e-3 271 Amblyopia Christianson syndrome 1 1 SLC9A6 (5) 0.03846 1.00000 1.624e-3 2.459e-3 282 Chromosome 5q12 deletion syndrome Gallbladder neoplasms 1 1 PDE4D (2) 0.03846 1.00000 1.624e-3 2.459e-3 Ck syndrome Polymicrogyria 1 1 NSDHL (7) 0.03846 1.00000 1.624e-3 2.459e-3 Amblyopia CNGB1-related retinopathy 1 1 CNGB1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 282 20p12.3 microdeletion syndrome Amblyopia 1 1 BMP2 (3) 0.03846 1.00000 1.624e-3 2.459e-3 amyotrophic lateral sclerosis type 11 Polymicrogyria 1 1 FIG4 (4) 0.03846 1.00000 1.624e-3 2.459e-3 amyotrophic lateral sclerosis type 19 Gallbladder neoplasms 1 1 ERBB4 (2) 0.03846 1.00000 1.624e-3 2.459e-3 312 amyotrophic lateral sclerosis type 22 Oocyte maturation defect 1 1 TUBA4A (2) 0.03846 1.00000 1.624e-3 2.459e-3 Anomalous pulmonary venous Polymicrogyria 1 0 PSMC3 (1) 0.03846 1.00000 1.624e-3 2.459e-3 Deafness with cataract, intellectual disability, and polyneuropathy Polymicrogyria 1 1 PSMC3 (4) 0.03846 1.00000 1.624e-3 2.459e-3 Complex partial epilepsy Polymicrogyria 1 1 SCN3A (2) 0.03846 1.00000 1.624e-3 2.459e-3 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Polymicrogyria 1 1 NSDHL (3) 0.03846 1.00000 1.624e-3 2.459e-3 Congenital left-sided heart lesions Mucosulfatidosis 1 1 SUMF1 (3) 0.03846 1.00000 1.624e-3 2.459e-3 Congenital left-sided heart lesions spermatogenic failure 19 1 1 CFAP43 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Congenital left-sided heart lesions Paris-trousseau thrombocytopenia 1 1 FLI1 (3) 0.03846 1.00000 1.624e-3 2.459e-3 Congenital left-sided heart lesions Peripheral primitive neuroectodermal tumor 1 1 FLI1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 bleeding disorder, platelet-type, 21 Congenital left-sided heart lesions 1 1 FLI1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Congenital merosin-deficient muscular dystrophy Polymicrogyria 1 1 LAMA2 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Amelogenesis imperfecta Atrial myxoma 1 1 PRKAR1A (4) 0.03846 1.00000 1.624e-3 2.459e-3 autosomal dominant macrothrombocytopenia Oocyte maturation defect 1 1 TUBA4A (2) 0.03846 1.00000 1.624e-3 2.459e-3 B3GALT6-congenital disorder of glycosylation Spondyloepimetaphyseal dysplasia 1 1 B3GALT6 (7) 0.03846 1.00000 1.624e-3 2.459e-3 44 Beukes hip dysplasia Spondyloepimetaphyseal dysplasia 1 1 UFSP2 (3) 0.03846 1.00000 1.624e-3 2.459e-3 Bilateral frontoparietal polymicrogyria Polymicrogyria 1 1 ADGRG1 (6) 0.03846 1.00000 1.624e-3 2.459e-3 Bilateral parasagittal parieto-occipital polymicrogyria Polymicrogyria 1 1 FIG4 (6) 0.03846 1.00000 1.624e-3 2.459e-3 Bothnia retinal dystrophy Night blindness, congenital stationary 1 1 RLBP1 (6) 0.03846 1.00000 1.624e-3 2.459e-3 Boudin-mortier syndrome Chagas cardiomyopathy 1 1 NPR3 (4) 0.03846 1.00000 1.624e-3 2.459e-3 Anophthalmia/microphthalmia-esophageal atresia syndrome Focal dermal hypoplasia 1 1 PORCN (7) 0.03846 1.00000 1.624e-3 2.459e-3 52 GPR179-related retinopathy Night blindness, congenital stationary 1 1 GPR179 (4) 0.03846 1.00000 1.624e-3 2.459e-3 160 GRM6-related retinopathy Night blindness, congenital stationary 1 1 GRM6 (4) 0.03846 1.00000 1.624e-3 2.459e-3 160 Anophthalmia/microphthalmia-esophageal atresia syndrome Growth hormone deficiency with pituitary anomalies 1 1 HESX1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 HAND2 related congenital heart defect Ventricular remodeling 1 1 HAND2 (2) 0.03846 1.00000 1.624e-3 2.459e-3 372 Hoxha-aliu syndrome Spondyloepimetaphyseal dysplasia 1 1 ERI1 (3) 0.03846 1.00000 1.624e-3 2.459e-3 44 Anophthalmia/microphthalmia-esophageal atresia syndrome nance-horan syndrome 1 1 NHS (2) 0.03846 1.00000 1.624e-3 2.459e-3 Amblyopia Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment 1 1 SLC9A6 (3) 0.03846 1.00000 1.624e-3 2.459e-3 282 Night blindness, congenital stationary NYX-related retinopathy 1 1 NYX (4) 0.03846 1.00000 1.624e-3 2.459e-3 160 oligodontia-cancer predisposition syndrome Ventricular remodeling 1 1 AXIN2 (2) 0.03846 1.00000 1.624e-3 2.459e-3 372 Oocyte maturation defect Partial corpus callosum agenesis 1 1 KPNA7 (5) 0.03846 1.00000 1.624e-3 2.459e-3 OPA1-related optic atrophy with or without extraocular features Ventricular remodeling 1 1 OPA1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Amelogenesis imperfecta lethal osteosclerotic bone dysplasia 1 1 FAM20C (2) 0.03846 1.00000 1.624e-3 2.459e-3 lichtenstein-knorr syndrome Ventricular remodeling 1 1 SLC9A1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 loeys-dietz syndrome 6 Ventricular remodeling 1 1 SMAD2 (2) 0.03846 1.00000 1.624e-3 2.459e-3 meester-loeys syndrome Spondyloepimetaphyseal dysplasia 1 1 BGN (4) 0.03846 1.00000 1.624e-3 2.459e-3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Polymicrogyria 1 1 CCND2 (2) 0.03846 1.00000 1.624e-3 2.459e-3 microcephaly 2, primary, autosomal recessive, with or without cortical malformations Polymicrogyria 1 1 WDR62 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Chagas cardiomyopathy Intracranial germ cell tumor 1 0 BAK1 (1) 0.03846 1.00000 1.624e-3 2.459e-3 Amblyopia krabbe disease 1 1 GALC (2) 0.03846 1.00000 1.624e-3 2.459e-3 LAMA2-related muscular dystrophy Polymicrogyria 1 1 LAMA2 (2) 0.03846 1.00000 1.624e-3 2.459e-3 LAMA5-related multisystemic syndrome Polymicrogyria 1 1 LAMA5 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Gallbladder neoplasms Peters plus syndrome 1 1 B3GLCT (2) 0.03846 1.00000 1.624e-3 2.459e-3 Amelogenesis imperfecta Tricho-dento-osseous syndrome 1 1 DLX3 (6) 0.03846 1.00000 1.624e-3 2.459e-3 Night blindness, congenital stationary TRPM1-related retinopathy 1 1 TRPM1 (4) 0.03846 1.00000 1.624e-3 2.459e-3 160 Spondyloepimetaphyseal dysplasia Warburg-cinotti syndrome 1 1 DDR2 (6) 0.03846 1.00000 1.624e-3 2.459e-3 Spondyloepimetaphyseal dysplasia X-linked cerebral adrenoleukodystrophy 1 1 ABCD1 (3) 0.03846 1.00000 1.624e-3 2.459e-3 Spondyloepimetaphyseal dysplasia X-linked hereditary sensory and autonomic neuropathy with deafness 1 1 AIFM1 (7) 0.03846 1.00000 1.624e-3 2.459e-3 Spondyloepimetaphyseal dysplasia X-linked spondyloepimetaphyseal dysplasia 1 1 BGN (6) 0.03846 1.00000 1.624e-3 2.459e-3 Spondyloepimetaphyseal dysplasia X-linked thoracic aortic aneurysm 1 1 BGN (4) 0.03846 1.00000 1.624e-3 2.459e-3 Night blindness, congenital stationary RDH5-related retinopathy 1 1 RDH5 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Night blindness, congenital stationary retinitis pigmentosa 47 1 1 SAG (2) 0.03846 1.00000 1.624e-3 2.459e-3 160 Right hypoplastic heart syndrome Ventricular remodeling 1 1 TBX20 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Night blindness, congenital stationary RLBP1-related retinopathy 1 1 RLBP1 (2) 0.03846 1.00000 1.624e-3 2.459e-3 Short stature spectrum Spondyloepimetaphyseal dysplasia 1 1 ACAN (7) 0.03846 1.00000 1.624e-3 2.459e-3 Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia with joint laxity, type 3 1 1 EXOC6B (5) 0.03846 1.00000 1.624e-3 2.459e-3 44 Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 1 1 DDR2 (5) 0.03846 1.00000 1.624e-3 2.459e-3 Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia, genevieve type 1 1 NANS (6) 0.03846 1.00000 1.624e-3 2.459e-3 44 Diabetic nephropathy type 1 Ritscher-schinzler syndrome 1 1 DPYSL5 (4) 0.10000 0.25000 1.558e-3 2.374e-3 Contracture of multiple joints Skeletal muscle disorder 1 0 KIF5B (1) 0.10000 0.25000 1.558e-3 2.374e-3 Congenital hyperinsulinism Intestinal disaccharide malabsorption 1 1 GCK (3) 0.10000 0.25000 1.558e-3 2.374e-3 Congenital cystic eyeball Multiple synostoses syndrome 1 1 GDF6 (5) 0.10000 0.25000 1.558e-3 2.374e-3 Myoclonic dystonia Pituitary neoplasms 1 1 DRD2 (2) 0.10000 0.25000 1.558e-3 2.374e-3 118 Erythropoietic protoporphyria X-linked sideroblastic anemia 1 1 ALAS2 (6) 0.10000 0.25000 1.558e-3 2.374e-3 Carotid artery thrombosis Hereditary hemophagocytic lymphohistiocytosis 1 1 STXBP2 (3) 0.10000 0.25000 1.558e-3 2.374e-3 Laryngeal neoplasms Male reproductive system disease 1 0 WNT7B (1) 0.10000 0.25000 1.558e-3 2.374e-3 Encephalocele Monomelic amyotrophy 1 0 CPLANE1 (1) 0.10000 0.25000 1.558e-3 2.374e-3 Ovarian mucinous adenocarcinoma Testotoxicosis 1 1 INHBB (3) 0.10000 0.25000 1.558e-3 2.374e-3 Disorders of sex development Testotoxicosis 1 1 LHCGR (2) 0.10000 0.25000 1.558e-3 2.374e-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 2.374e-3 Gastrointestinal hemorrhage Waldenstrom macroglobulinemia 1 1 IRF4 (2) 0.10000 0.25000 1.558e-3 2.374e-3 Adenomatous polyposis Xanthinuria 1 0 TSC2 (1) 0.10000 0.25000 1.558e-3 2.374e-3 48 Tuberous sclerosis complex Xanthinuria 1 1 TSC2 (7) 0.10000 0.25000 1.558e-3 2.374e-3 48 Cerebral cortical atrophy Proximal spinal muscular atrophy 1 0 SPG7 (1) 0.10000 0.25000 1.558e-3 2.374e-3 348 Bowen’s disease Intestinal polyps 1 0 CCND1 (1) 0.10000 0.25000 1.558e-3 2.374e-3 Anterior polar cataract Embryonal nuclear cataract 1 1 CRYBB3 (3) 0.10000 0.25000 1.558e-3 2.374e-3 Disorders of sex development Male pseudohypopituitarism 1 1 AKR1C2 (2) 0.10000 0.25000 1.558e-3 2.374e-3 363 Ductus arteriosus, patent Intestinal pseudo-obstruction 1 1 TFAP2B (2) 0.10000 0.25000 1.558e-3 2.374e-3 Cerebroretinal microangiopathy with calcifications and cysts Tumor predisposition syndrome 1 1 POT1 (6) 0.10000 0.25000 1.558e-3 2.374e-3 autosomal recessive primary microcephaly Congenital malformation syndromes associated with short stature 1 1 CDK5RAP2 (2) 0.10000 0.25000 1.558e-3 2.374e-3 Corneal edema Laryngeal disease 1 0 ARHGAP21 (1) 0.10000 0.25000 1.558e-3 2.374e-3 Coronary syndrome Paralytic strabismus 1 0 PHACTR1 (1) 0.10000 0.25000 1.558e-3 2.374e-3 Carotid artery thrombosis Congenital lactic acidosis 1 1 STXBP2 (2) 0.10000 0.25000 1.558e-3 2.374e-3 Congenital lactic acidosis Lobular carcinoma 1 1 PPP1R12B (2) 0.10000 0.25000 1.558e-3 2.374e-3 Duodenitis Sitosterolemia 1 1 ABCG8 (7) 0.09091 0.33333 1.558e-3 2.374e-3 Benign mucous membrane pemphigoid with ocular involvement Duodenitis 1 1 HLA-DQB1 (2) 0.09091 0.33333 1.558e-3 2.374e-3 1 Early onset epilepsy with developmental delay Familial adult myoclonic epilepsy 1 1 CNTN2 (5) 0.09091 0.33333 1.558e-3 2.374e-3 284 Adult myoclonic epilepsy Early onset epilepsy with developmental delay 1 1 CNTN2 (4) 0.09091 0.33333 1.558e-3 2.374e-3 284 15q11.2 microdeletion syndrome Complex cortical dysplasia with other brain malformations 1 1 TUBG1 (3) 0.09091 0.33333 1.558e-3 2.374e-3 144 3-methylglutaconic aciduria Mitochondrial encephalopathy 1 1 TIMM50 (3) 0.09091 0.33333 1.558e-3 2.374e-3 Corticobasal syndrome Frontotemporal dementia with motor neuron disease 1 1 TBK1 (2) 0.09091 0.33333 1.558e-3 2.374e-3 Cataract-multisystem syndrome Hoyeraal hreidarsson syndrome 1 1 DKC1 (5) 0.09091 0.33333 1.558e-3 2.374e-3 Cataract-multisystem syndrome Telomere-related pulmonary fibrosis and/or bone marrow failure 1 1 NOP10 (4) 0.09091 0.33333 1.558e-3 2.374e-3 Cholestasis Metachromatic leukodystrophy 1 0 YARS1 (1) 0.09091 0.33333 1.558e-3 2.374e-3 Chromosome 22q11.2 microdeletion syndrome Liver cancer 1 1 MAPK1 (3) 0.09091 0.33333 1.558e-3 2.374e-3 Circadian rhythm sleep disorder Pernicious anemia 1 0 CNTN5 (1) 0.09091 0.33333 1.558e-3 2.374e-3 Cleidocranial dysplasia Facial nerve disorder 1 1 SUPT3H (2) 0.09091 0.33333 1.558e-3 2.374e-3 Accessory skin tag Arterial tortuosity syndrome 1 0 EFEMP2 (1) 0.09091 0.33333 1.558e-3 2.374e-3 Arterial tortuosity syndrome Ruptured abdominal aortic aneurysm 1 0 EFEMP2 (1) 0.09091 0.33333 1.558e-3 2.374e-3 64 Arterial tortuosity syndrome Ruptured aortic aneurysm 1 0 EFEMP2 (1) 0.09091 0.33333 1.558e-3 2.374e-3 64 Beta-hydroxyisobutyryl-coa deacylase deficiency Charcot-marie-tooth disease, x-linked 1 1 AIFM1 (5) 0.09091 0.33333 1.558e-3 2.374e-3 Infertility Olmsted syndrome 1 1 SPATA22 (2) 0.09091 0.33333 1.558e-3 2.374e-3 Coronal craniosynostosis Robinow syndrome 1 1 TWIST1 (4) 0.09091 0.33333 1.558e-3 2.374e-3 Spermatogenic failure, x-linked Synovial sarcoma 1 1 SSX1 (5) 0.09091 0.33333 1.558e-3 2.374e-3 11 Charcot-marie-tooth disease, x-linked Spinocerebellar ataxia, x-linked 1 1 GJB1 (7) 0.09091 0.33333 1.558e-3 2.374e-3 Penile hypospadia Synpolydactyly 1 1 HOXD13 (5) 0.09091 0.33333 1.558e-3 2.374e-3 111 Insulin dependent diabetes mellitus secretory diarrhea syndrome Occupational dermatitis 1 1 FOXP3 (3) 0.09091 0.33333 1.558e-3 2.374e-3 Bulbar palsy Episodic ataxia 1 1 CACNA1A (5) 0.09091 0.33333 1.558e-3 2.374e-3 55 Cryptogenic west syndrome Fatty acid metabolism disorder 1 0 HSD17B4 (1) 0.09091 0.33333 1.558e-3 2.374e-3 Metaphyseal chondrodysplasia Trichorhinophalangeal syndrome 1 1 TRPS1 (7) 0.09091 0.33333 1.558e-3 2.374e-3 Complex cortical dysplasia with other brain malformations lissencephaly spectrum disorders 1 1 TUBG1 (3) 0.09091 0.33333 1.558e-3 2.374e-3 144 Benign mucous membrane pemphigoid with ocular involvement Liver cancer 1 1 HLA-DQB1 (2) 0.09091 0.33333 1.558e-3 2.374e-3 Metaphyseal chondrodysplasia Metaphyseal dysplasia 1 1 MMP13 (6) 0.09091 0.33333 1.558e-3 2.374e-3 Hemophagocytic lymphohistiocytosis Microvillus inclusion disease 1 1 STXBP2 (7) 0.09091 0.33333 1.558e-3 2.374e-3 96 Cardiofaciocutaneous syndrome Noonan syndrome-like disorder with loose anagen hair 1 1 SHOC2 (2) 0.07143 0.50000 1.558e-3 2.374e-3 49 Growth hormone insensitivity syndrome Specific learning disability 1 0 GHR (1) 0.07143 0.50000 1.558e-3 2.374e-3 Growth hormone insensitivity, partial Specific learning disability 1 1 GHR (2) 0.07143 0.50000 1.558e-3 2.374e-3 Ovarian dysgenesis Ovarian hyperstimulation syndrome 1 1 FSHR (6) 0.07143 0.50000 1.558e-3 2.374e-3 149 Paranoia Parapsoriasis 1 1 HLA-A (2) 0.07143 0.50000 1.558e-3 2.374e-3 Paralysis Parkinson-dementia complex of guam 1 1 TRPM7 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Periapical periodontitis Tonic-clonic epilepsy 1 1 FGF2 (2) 0.07143 0.50000 1.558e-3 2.374e-3 142 Neonatal diabetes mellitus with congenital hypothyroidism Periprosthetic osteolysis 1 1 GLIS3 (6) 0.07143 0.50000 1.558e-3 2.374e-3 416 Duane retraction syndrome Primary adrenal insufficiency 1 1 CUX1 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Paranoia Primary cutaneous anaplastic large cell lymphoma 1 1 TYK2 (3) 0.07143 0.50000 1.558e-3 2.374e-3 Congenital nonspherocytic hemolytic anemia Pyruvate kinase deficiency 1 1 PKLR (2) 0.07143 0.50000 1.558e-3 2.374e-3 Diabetes complications qualitative platelet defect 1 1 ABCC4 (3) 0.07143 0.50000 1.558e-3 2.374e-3 Cataract-glaucoma syndrome Stomach disease 1 1 TRPM3 (3) 0.07143 0.50000 1.558e-3 2.374e-3 122 Autoimmune pancreatitis Stomach disease 1 0 HLA-DQB1 (1) 0.07143 0.50000 1.558e-3 2.374e-3 Hereditary corneal dystrophy Thiel-behnke corneal dystrophy 1 1 TGFBI (4) 0.07143 0.50000 1.558e-3 2.374e-3 Autoimmune pancreatitis Thyrotoxic periodic paralysis 1 1 HLA-DQB1 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Thyrotoxic periodic paralysis Tongue cancer 1 0 HLA-DQB1 (1) 0.07143 0.50000 1.558e-3 2.374e-3 Renovascular hypertension Vestibular disease 1 1 NOS3 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Tonic-clonic epilepsy Water intoxication 1 1 OXT (2) 0.07143 0.50000 1.558e-3 2.374e-3 Corneal disease White spongue nevus 1 1 KRT4 (5) 0.07143 0.50000 1.558e-3 2.374e-3 283 Congenital structural myopathy X-linked myotubular myopathy 1 1 MTM1 (4) 0.07143 0.50000 1.558e-3 2.374e-3 Congenital pes cavus X-linked progressive cerebellar ataxia 1 1 GJB1 (3) 0.07143 0.50000 1.558e-3 2.374e-3 autosomal dominant medullary cystic kidney disease with or without hyperuricemia Hydronephrosis 1 1 UMOD (2) 0.07143 0.50000 1.558e-3 2.374e-3 Bilirubin metabolism disease Dihydropyrimidine metabolism disorder 1 1 DPYS (4) 0.07143 0.50000 1.558e-3 2.374e-3 Developmental coordination disorder Discoid lupus erythematosus 1 0 OGG1 (1) 0.07143 0.50000 1.558e-3 2.374e-3 Distal amyotrophy Myofibrillar myopathy 1 1 MYOT (3) 0.07143 0.50000 1.558e-3 2.374e-3 Dopamine beta-hydroxy­lase deficiency Paranoia 1 1 DBH (3) 0.07143 0.50000 1.558e-3 2.374e-3 Duane retraction syndrome Duane-radial ray syndrome 1 1 SALL4 (6) 0.07143 0.50000 1.558e-3 2.374e-3 Elsahy-waters syndrome Hereditary corneal dystrophy 1 1 ELOVL4 (3) 0.07143 0.50000 1.558e-3 2.374e-3 Bilateral generalized polymicrogyria Trigeminal neuralgia 1 1 GRIN1 (3) 0.07143 0.50000 1.558e-3 2.374e-3 Birk-barel syndrome Stomach disease 1 1 TRPM3 (2) 0.07143 0.50000 1.558e-3 2.374e-3 122 Bmpr1a-related juvenile polyposis Ductal carcinoma of breast 1 1 SMAD4 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Bombay phenotype Megaloblastic anemia 1 1 FUT2 (3) 0.07143 0.50000 1.558e-3 2.374e-3 100 Bombay phenotype Vitamin b deficiency 1 1 FUT2 (4) 0.07143 0.50000 1.558e-3 2.374e-3 100 Bone remodeling disease Breast fibrocystic disease 1 0 CSMD1 (1) 0.07143 0.50000 1.558e-3 2.374e-3 Brittle cornea syndrome Corneal disease 1 1 ZNF469 (6) 0.07143 0.50000 1.558e-3 2.374e-3 Colobomatous optic disc macular atrophy chorioretinopathy syndrome Nanophthalmos 1 1 SIX6 (4) 0.07143 0.50000 1.558e-3 2.374e-3 52 Cone-rod synaptic disorder Congenital stationary night blindness 1 1 CABP4 (4) 0.07143 0.50000 1.558e-3 2.374e-3 Charcot-Marie-Tooth disease type 2 Congenital pes cavus 1 1 NEFL (2) 0.07143 0.50000 1.558e-3 2.374e-3 13 Cholecystitis Keppen-lubinsky syndrome 1 1 KCNJ6 (6) 0.07143 0.50000 1.558e-3 2.374e-3 Coats plus syndrome Lipoma 1 1 STN1 (2) 0.07143 0.50000 1.558e-3 2.374e-3 138 Cobblestone lissencephaly Corneal disease 1 1 LAMB1 (6) 0.07143 0.50000 1.558e-3 2.374e-3 Cobblestone lissencephaly Periventricular nodular heterotopia 1 1 TMTC3 (2) 0.07143 0.50000 1.558e-3 2.374e-3 17 alpha-hydroxyprogesterone aldolase deficiency Paranoia 1 1 AKR1C4 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Alopecia-intellectual disability syndrome Hypotrichosis simplex 1 1 LSS (3) 0.07143 0.50000 1.558e-3 2.374e-3 Amed syndrome Diabetes complications 1 1 ALDH2 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Amish infantile epilepsy syndrome Latent autoimmune diabetes in adults 1 1 ATXN2 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Anaplasia Diabetes complications 1 1 HIF1A (2) 0.07143 0.50000 1.558e-3 2.374e-3 Anaptoglobinemia Diabetes complications 1 1 HP (4) 0.07143 0.50000 1.558e-3 2.374e-3 Congenital sodium diarrhea Intestinal obstruction 1 1 SLC9A3 (3) 0.07143 0.50000 1.558e-3 2.374e-3 Corneal disease ehlers-danlos syndrome, classic type 1 1 COL5A1 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Corneal endothelial dystrophy Hereditary corneal dystrophy 1 1 SLC4A11 (3) 0.07143 0.50000 1.558e-3 2.374e-3 87 Corneal disease Corneal endothelial dystrophy 1 1 KRT3 (2) 0.07143 0.50000 1.558e-3 2.374e-3 Demyelinating hereditary motor and sensory neuropathy Rothmund-thomson syndrome 1 1 FBLN5 (3) 0.07143 0.50000 1.558e-3 2.374e-3 94 Curry-jones syndrome Meningioma 1 1 SMO (5) 0.04000 1.00000 1.559e-3 2.374e-3 297 Den hoed-de boer-voisin syndrome Hyperaldosteronism 1 1 SATB1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Blood coagulation disorder Body skin hyperlaxity 1 1 GGCX (5) 0.04000 1.00000 1.559e-3 2.374e-3 ARHGAP29-related non-syndromic orofacial cleft Uranostaphyloschisis 1 1 ARHGAP29 (2) 0.04000 1.00000 1.559e-3 2.374e-3 asphyxiating thoracic dystrophy 2 Short rib dysplasia-polydactyly syndrome 1 1 IFT80 (4) 0.04000 1.00000 1.559e-3 2.374e-3 Autoimmune thrombocytopenic purpura fraser syndrome 3 1 1 GRIP1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Autoimmune thrombocytopenic purpura Cerebellar hypoplasia 1 1 VLDLR (2) 0.04000 1.00000 1.559e-3 2.374e-3 Autoimmune thrombocytopenic purpura Autoinflammatory syndrome with immunodeficiency 1 1 SOCS1 (4) 0.04000 1.00000 1.559e-3 2.374e-3 330 Autoimmune thrombocytopenic purpura Autoinflammatory syndrome, familial, with or without immunodeficiency 1 1 SOCS1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 330 Autoimmune thrombocytopenic purpura Autoimmunity-autoinflammation-immunodeficiency syndrome 1 1 SOCS1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 330 Beemer-langer syndrome Short rib dysplasia-polydactyly syndrome 1 1 IFT80 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Developmental delay with dysmorphic facies and dental anomalies Hyperaldosteronism 1 1 SATB1 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Conduction disorder of the heart dilated cardiomyopathy 1BB 1 1 DSG2 (2) 0.04000 1.00000 1.559e-3 2.374e-3 3 dilated cardiomyopathy 2B Peroxisome biogenesis disorder 1 1 GATAD1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 141 Disorder of sex development Hyperaldosteronism 1 1 RXFP2 (2) 0.04000 1.00000 1.559e-3 2.374e-3 17-beta-hydroxysteroid dehydrogenase deficiency Myoclonic epilepsy 1 1 HSD17B3 (4) 0.04000 1.00000 1.559e-3 2.374e-3 1p31p32 microdeletion syndrome Uranostaphyloschisis 1 1 NFIA (2) 0.04000 1.00000 1.559e-3 2.374e-3 1p31p32 microdeletion syndrome Uterine polyp 1 1 NFIA (3) 0.04000 1.00000 1.559e-3 2.374e-3 2q37 microdeletion syndrome Mixed connective tissue disease 1 1 HDAC4 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Abruzzo-erickson syndrome Uranostaphyloschisis 1 1 TBX22 (2) 0.04000 1.00000 1.559e-3 2.374e-3 226 Acys amyloidosis Meningioma 1 1 CST3 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Adult polyglucosan body disease Polyneuropathy 1 1 GBE1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 amyotrophic lateral sclerosis, susceptibility to, 24 Short rib dysplasia-polydactyly syndrome 1 1 NEK1 (4) 0.04000 1.00000 1.559e-3 2.374e-3 19 Congenital cataract microcephaly intellectual disability syndrome Polyneuropathy 1 1 MED25 (2) 0.04000 1.00000 1.559e-3 2.374e-3 241 Blood coagulation disorder Congenital factor x deficiency 1 1 F10 (5) 0.04000 1.00000 1.559e-3 2.374e-3 Congenital factor xii deficiency Transient ischemic attack 1 1 F12 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Congenital hypothalamic hamartoma syndrome Meningioma 1 1 SMO (3) 0.04000 1.00000 1.559e-3 2.374e-3 297 Cerebrocostomandibular syndrome Mixed connective tissue disease 1 1 SNRPB (6) 0.04000 1.00000 1.559e-3 2.374e-3 44 Charcot-Marie-Tooth disease type 1A Myoclonic epilepsy 1 1 PMP22 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Charcot-Marie-tooth disease, axonal, type 2DD Hyperaldosteronism 1 1 ATP1A1 (3) 0.04000 1.00000 1.559e-3 2.374e-3 296 Chromosome 1p32-p31 deletion syndrome Uranostaphyloschisis 1 1 NFIA (2) 0.04000 1.00000 1.559e-3 2.374e-3 Chromosome 1p32-p31 deletion syndrome Uterine polyp 1 1 NFIA (2) 0.04000 1.00000 1.559e-3 2.374e-3 Cleft palate cardiac defects impaired intellectual development Uranostaphyloschisis 1 1 MEIS2 (2) 0.04000 1.00000 1.559e-3 2.374e-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 2.374e-3 Cleft palate proliferative retinopathy developmental delay Uranostaphyloschisis 1 1 LRRC32 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Cleft palate with ankyloglossia Uranostaphyloschisis 1 1 TBX22 (5) 0.04000 1.00000 1.559e-3 2.374e-3 226 Cleft palate x-linked Uranostaphyloschisis 1 1 TBX22 (2) 0.04000 1.00000 1.559e-3 2.374e-3 226 thrombocytopenia 4 Transient ischemic attack 1 1 CYCS (2) 0.04000 1.00000 1.559e-3 2.374e-3 cutis laxa, autosomal dominant 1 Williams syndrome 1 1 ELN (6) 0.04000 1.00000 1.559e-3 2.374e-3 Meningioma Winter shortland temple syndrome 1 1 SMO (3) 0.04000 1.00000 1.559e-3 2.374e-3 297 Peroxisome biogenesis disorder X-linked cerebral adrenoleukodystrophy 1 1 ABCD1 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Uranostaphyloschisis X-linked cleft palate and ankloglossia 1 1 TBX22 (2) 0.04000 1.00000 1.559e-3 2.374e-3 226 Hyperaldosteronism X-linked non progressive cerebellar ataxia 1 1 ATP2B3 (4) 0.04000 1.00000 1.559e-3 2.374e-3 Deficiency anemia Partial deficiency of methylmalonyl-coenzyme a mutase 1 1 MMUT (2) 0.04000 1.00000 1.559e-3 2.374e-3 Hyperaldosteronism Peters plus syndrome 1 1 B3GLCT (2) 0.04000 1.00000 1.559e-3 2.374e-3 Hemorrhage platelet-type bleeding disorder 8 1 1 P2RY12 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Polyneuropathy Primary immunodeficiency with defective natural killer cell cytotoxicity 1 1 FCGR3A (4) 0.04000 1.00000 1.559e-3 2.374e-3 primordial dwarfism-immunodeficiency-lipodystrophy syndrome Uterine polyp 1 1 PRIM1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Progressive myoclonic epilepsy Progressive myoclonic epilepsy with renal failure 1 1 SEMA6B (5) 0.04000 1.00000 1.559e-3 2.374e-3 339 myasthenic syndrome, congenital, 1b, fast-channel Myoclonic epilepsy 1 1 CHRNA1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Myoclonus-renal failure syndrome Progressive myoclonic epilepsy 1 1 SCARB2 (6) 0.04000 1.00000 1.559e-3 2.374e-3 339 Conduction disorder of the heart Naxos disease 1 1 JUP (6) 0.04000 1.00000 1.559e-3 2.374e-3 nephronophthisis 12 Short rib dysplasia-polydactyly syndrome 1 1 TTC21B (3) 0.04000 1.00000 1.559e-3 2.374e-3 19 Myoclonic epilepsy neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 1 1 CAPRIN1 (2) 0.04000 1.00000 1.559e-3 2.374e-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 2.374e-3 Mixed connective tissue disease neurodevelopmental disorder with microcephaly and dysmorphic facies 1 1 SPOP (2) 0.04000 1.00000 1.559e-3 2.374e-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 2.374e-3 Meningioma NTHL1-deficiency tumor predisposition syndrome 1 1 NTHL1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Hyperaldosteronism Oropharyngeal dysphagia 1 1 ATP2B3 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Blood coagulation disorder inherited blood coagulation disorder 1 1 APOLD1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 intellectual disability, autosomal dominant 42 Uranostaphyloschisis 1 1 GNB1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Intracranial hypertension Mixed connective tissue disease 1 1 SLC4A10 (2) 0.04000 1.00000 1.559e-3 2.374e-3 INTU-related skeletal ciliopathy Short rib dysplasia-polydactyly syndrome 1 1 INTU (2) 0.04000 1.00000 1.559e-3 2.374e-3 19 joubert syndrome 17 Uranostaphyloschisis 1 1 CPLANE1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Juvenile absence epilepsy Myoclonic epilepsy 1 1 EFHC1 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Juvenile myoclonic epilepsy Myoclonic epilepsy 1 1 CILK1 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Juvenile myoclonic epilepsy Short rib dysplasia-polydactyly syndrome 1 1 CILK1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 leber-like hereditary optic neuropathy, autosomal recessive 1 Williams syndrome 1 1 DNAJC30 (3) 0.04000 1.00000 1.559e-3 2.374e-3 12 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy Meningioma 1 1 CST3 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Hereditary atrial fibrillation long qt syndrome 5 1 1 KCNE1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Deficiency anemia methylmalonic acidemia due to transcobalamin receptor defect 1 1 CD320 (2) 0.04000 1.00000 1.559e-3 2.374e-3 100 Deficiency anemia methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 1 1 MMUT (2) 0.04000 1.00000 1.559e-3 2.374e-3 Deficiency anemia methylmalonic aciduria, cblA type 1 1 MMAA (2) 0.04000 1.00000 1.559e-3 2.374e-3 100 Deficiency anemia Methylmalonyl-coa mutase deficiency 1 1 MMUT (2) 0.04000 1.00000 1.559e-3 2.374e-3 Congenital pectus carinatum Mixed connective tissue disease 1 0 FBN1 (1) 0.04000 1.00000 1.559e-3 2.374e-3 Meningioma mosaic SMO syndrome 1 1 SMO (3) 0.04000 1.00000 1.559e-3 2.374e-3 297 Hereditary neuropathy with liability to pressure palsies Myoclonic epilepsy 1 1 PMP22 (4) 0.04000 1.00000 1.559e-3 2.374e-3 Conduction disorder of the heart hereditary spherocytosis 1 1 ANK1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Retinopathy-sensory neuropathy syndrome Short rib dysplasia-polydactyly syndrome 1 1 FLVCR1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Satb2 associated syndrome Uranostaphyloschisis 1 1 SATB2 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Myoclonic epilepsy self-limited familial neonatal epilepsy 1 1 KCNQ3 (3) 0.04000 1.00000 1.559e-3 2.374e-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 2.374e-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 2.374e-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 2.374e-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 2.374e-3 19 Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 7 with or without polydactyly 1 1 WDR35 (4) 0.04000 1.00000 1.559e-3 2.374e-3 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 2.374e-3 19 spermatogenic failure 38 Uterine polyp 1 1 ARMC2 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Hyperaldosteronism Steroid 11-beta-monooxygenase deficiency 1 1 CYP11B1 (5) 0.04000 1.00000 1.559e-3 2.374e-3 Polyneuropathy Sterol carrier protein 2 deficiency 1 1 SCP2 (5) 0.04000 1.00000 1.559e-3 2.374e-3 241 Blood coagulation disorder Factor x deficiency 1 1 F10 (3) 0.04000 1.00000 1.559e-3 2.374e-3 Factor xii deficiency Transient ischemic attack 1 1 F12 (4) 0.04000 1.00000 1.559e-3 2.374e-3 familial hyperaldosteronism type III Hyperaldosteronism 1 1 KCNJ5 (6) 0.04000 1.00000 1.559e-3 2.374e-3 familial hyperaldosteronism type III Hereditary atrial fibrillation 1 1 KCNJ5 (2) 0.04000 1.00000 1.559e-3 2.374e-3 familial meningioma Meningioma 1 1 SMARCE1 (6) 0.04000 1.00000 1.559e-3 2.374e-3 fanconi anemia complementation group d2 Uranostaphyloschisis 1 1 FANCD2 (2) 0.04000 1.00000 1.559e-3 2.374e-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 2.374e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Progressive myoclonic epilepsy 1 1 C9orf72 (2) 0.04000 1.00000 1.559e-3 2.374e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 Polyneuropathy 1 1 CCNF (2) 0.04000 1.00000 1.559e-3 2.374e-3 Glass syndrome Uranostaphyloschisis 1 1 SATB2 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Glycine n-methyltransferase deficiency Peroxisome biogenesis disorder 1 1 GNMT (5) 0.04000 1.00000 1.559e-3 2.374e-3 glycogen storage disease due to glycogen branching enzyme deficiency Polyneuropathy 1 1 GBE1 (2) 0.04000 1.00000 1.559e-3 2.374e-3 Biliary atresia Heart valve prolapse 2 0 SPP1 (1), IL18 (1) 0.03390 0.06897 1.540e-3 2.374e-3 Boomerang dysplasia Bullous pemphigoid 1 1 FLNB (6) 0.04167 1.00000 1.494e-3 2.311e-3 Boomerang dysplasia Congenital clubfoot 1 1 FLNB (5) 0.04167 1.00000 1.494e-3 2.311e-3 Charcot-Marie-Tooth disease axonal type 2N Congenital clubfoot 1 1 AARS1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Childhood-onset basal ganglia degeneration syndrome Diffuse cutaneous systemic sclerosis 1 1 VAC14 (3) 0.04167 1.00000 1.494e-3 2.311e-3 Anti-neutrophil antibody associated vasculitis Chromosome xq27.3-q28 duplication syndrome 1 1 FMR1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 ciliary dyskinesia, primary, 41 Nasal disorder 1 1 GAS2L2 (2) 0.04167 1.00000 1.494e-3 2.311e-3 103 Anterior segment dysgenesis Cornea plana 1 1 KERA (5) 0.04167 1.00000 1.494e-3 2.311e-3 Craniotubular dysplasia Skeletal dysplasia 1 1 TMEM53 (4) 0.04167 1.00000 1.494e-3 2.311e-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 2.311e-3 asphyxiating thoracic dystrophy 2 Short-rib thoracic dysplasia 1 1 IFT80 (4) 0.04167 1.00000 1.494e-3 2.311e-3 Anterior segment dysgenesis Axonal neuropathy 1 1 GBF1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 82 Baralle-macken syndrome Skeletal dysplasia 1 1 COPB1 (4) 0.04167 1.00000 1.494e-3 2.311e-3 Beemer-langer syndrome Short-rib thoracic dysplasia 1 1 IFT80 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency Nasal disorder 1 1 IKZF3 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Anterior segment dysgenesis Congenital cataract anterior segment dysgenesis syndrome 1 1 PITX3 (5) 0.04167 1.00000 1.494e-3 2.311e-3 Anterior segment dysgenesis Congenital cornea plana 1 1 KERA (2) 0.04167 1.00000 1.494e-3 2.311e-3 Anterior segment dysgenesis Congenital malformation of cornea 1 0 KERA (1) 0.04167 1.00000 1.494e-3 2.311e-3 Congenital clubfoot developmental and epileptic encephalopathy, 29 1 1 AARS1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Developmental delay with or without epilepsy Short-rib thoracic dysplasia 1 1 SPTAN1 (3) 0.04167 1.00000 1.494e-3 2.311e-3 19 Dilatation of left cardiac ventricle Restrictive cardiomyopathy 1 0 ACTC1 (1) 0.04167 1.00000 1.494e-3 2.311e-3 dilated cardiomyopathy 1D Restrictive cardiomyopathy 1 1 TNNT2 (4) 0.04167 1.00000 1.494e-3 2.311e-3 dilated cardiomyopathy 1FF Restrictive cardiomyopathy 1 1 TNNI3 (4) 0.04167 1.00000 1.494e-3 2.311e-3 dilated cardiomyopathy 1I Restrictive cardiomyopathy 1 1 DES (2) 0.04167 1.00000 1.494e-3 2.311e-3 3 dilated cardiomyopathy 1KK Restrictive cardiomyopathy 1 1 MYPN (4) 0.04167 1.00000 1.494e-3 2.311e-3 dilated cardiomyopathy 1R Restrictive cardiomyopathy 1 1 ACTC1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 dilated cardiomyopathy 2A Restrictive cardiomyopathy 1 1 TNNI3 (4) 0.04167 1.00000 1.494e-3 2.311e-3 Congenital clubfoot ehlers-danlos syndrome, musculocontractural type 1 1 1 CHST14 (2) 0.04167 1.00000 1.494e-3 2.311e-3 27 ALG9-associated autosomal dominant polycystic kidney disease Polycystic liver disease 1 1 ALG9 (2) 0.04167 1.00000 1.494e-3 2.311e-3 97 amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 1 1 NEK1 (5) 0.04167 1.00000 1.494e-3 2.311e-3 19 Anterior segment dysgenesis anterior segment dysgenesis 7 1 1 PXDN (4) 0.04167 1.00000 1.494e-3 2.311e-3 Anterior segment dysgenesis anterior segment dysgenesis 8 1 1 CPAMD8 (5) 0.04167 1.00000 1.494e-3 2.311e-3 82 EYS-related retinopathy Systemic mastocytosis 1 1 EYS (2) 0.04167 1.00000 1.494e-3 2.311e-3 Bullous pemphigoid FLNB-associated autosomal dominant filamin related bone disorder 1 1 FLNB (2) 0.04167 1.00000 1.494e-3 2.311e-3 Congenital clubfoot FLNB-associated autosomal dominant filamin related bone disorder 1 1 FLNB (2) 0.04167 1.00000 1.494e-3 2.311e-3 Anti-neutrophil antibody associated vasculitis fragile x syndrome 1 1 FMR1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 LCA5-related retinopathy Polycystic liver disease 1 1 LCA5 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Congenital clubfoot Leukoencephalopathy 1 1 AARS1 (3) 0.04167 1.00000 1.494e-3 2.311e-3 Bullous pemphigoid Majeed syndrome 1 1 LPIN2 (7) 0.04167 1.00000 1.494e-3 2.311e-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 2.311e-3 mucopolysaccharidosis type 4A Skeletal dysplasia 1 1 GALNS (2) 0.04167 1.00000 1.494e-3 2.311e-3 Diffuse cutaneous systemic sclerosis multiple self-healing squamous epithelioma 1 1 TGFBR1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 22 MYPN-related myopathy Restrictive cardiomyopathy 1 1 MYPN (4) 0.04167 1.00000 1.494e-3 2.311e-3 Congenital clubfoot nail-patella syndrome 1 1 LMX1B (2) 0.04167 1.00000 1.494e-3 2.311e-3 27 nephronophthisis 12 Short-rib thoracic dysplasia 1 1 TTC21B (3) 0.04167 1.00000 1.494e-3 2.311e-3 19 Fuchs endothelial dystrophy neutral lipid storage myopathy 1 1 PNPLA2 (2) 0.04167 1.00000 1.494e-3 2.311e-3 87 Congenital impairment of spermatozoa motility Nonobstructive azoospermia 1 1 SLC26A8 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Anti-neutrophil antibody associated vasculitis Thiopurine immunosuppressant-induced pancreatitis 1 0 HLA-DQB3 (1) 0.04167 1.00000 1.494e-3 2.311e-3 1 Short-rib thoracic dysplasia Thoracic malformation 1 1 FGF4 (3) 0.04167 1.00000 1.494e-3 2.311e-3 19 Restrictive cardiomyopathy Timothy syndrome 1 1 CACNA1C (6) 0.04167 1.00000 1.494e-3 2.311e-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 2.311e-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 2.311e-3 97 Polycystic liver disease polycystic liver disease 1 1 1 PRKCSH (6) 0.04167 1.00000 1.494e-3 2.311e-3 97 Polycystic liver disease polycystic liver disease 2 1 1 SEC63 (6) 0.04167 1.00000 1.494e-3 2.311e-3 97 Congenital impairment of spermatozoa motility primary ciliary dyskinesia 21 1 1 DRC1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 pycnodysostosis Skeletal dysplasia 1 1 CTSK (2) 0.04167 1.00000 1.494e-3 2.311e-3 immunodeficiency 84 Nasal disorder 1 1 IKZF3 (2) 0.04167 1.00000 1.494e-3 2.311e-3 immunoskeletal dysplasia with neurodevelopmental abnormalities Skeletal dysplasia 1 1 EXTL3 (3) 0.04167 1.00000 1.494e-3 2.311e-3 93 Intellectual developmental disorder growth seizures Systemic mastocytosis 1 1 ABCA2 (4) 0.04167 1.00000 1.494e-3 2.311e-3 237 Fuchs endothelial dystrophy Intellectual developmental disorder seizures cerebellar 1 1 RORA (4) 0.04167 1.00000 1.494e-3 2.311e-3 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 2.311e-3 87 INTU-related skeletal ciliopathy Short-rib thoracic dysplasia 1 1 INTU (4) 0.04167 1.00000 1.494e-3 2.311e-3 19 Fuchs endothelial dystrophy LAMA5-related multisystemic syndrome 1 1 LAMA5 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Polycystic liver disease SEC61A1 deficiency 1 1 SEC61A1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 97 Polycystic liver disease SEC61B-related polycystic liver disease 1 1 SEC61B (3) 0.04167 1.00000 1.494e-3 2.311e-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 2.311e-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 2.311e-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 2.311e-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 2.311e-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 2.311e-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 2.311e-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 2.311e-3 Congenital impairment of spermatozoa motility spermatogenic failure 18 1 1 DNAH1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 11 Congenital impairment of spermatozoa motility spermatogenic failure 19 1 1 CFAP43 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Congenital impairment of spermatozoa motility spermatogenic failure 38 1 1 ARMC2 (2) 0.04167 1.00000 1.494e-3 2.311e-3 11 Congenital impairment of spermatozoa motility spermatogenic failure 39 1 1 DNAH17 (2) 0.04167 1.00000 1.494e-3 2.311e-3 11 Skeletal dysplasia spondyloepiphyseal dysplasia with congenital joint dislocations 1 1 CHST3 (3) 0.04167 1.00000 1.494e-3 2.311e-3 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Systemic mastocytosis 1 1 MOCS1 (2) 0.04167 1.00000 1.494e-3 2.311e-3 Anti-neutrophil antibody associated vasculitis Hemophilia a carriers 1 1 F8 (3) 0.04167 1.00000 1.494e-3 2.311e-3 Macrothrombocytopenia Parkinson-dementia complex of guam 1 1 TRPM7 (3) 0.07692 0.50000 1.428e-3 2.224e-3 Congenital short bowel syndrome Post-operative acute kidney injury 1 1 CLMP (4) 0.07692 0.50000 1.428e-3 2.224e-3 Cushing's disease Familial ventricular tachycardia 1 1 GNAI2 (3) 0.07692 0.50000 1.428e-3 2.224e-3 Familial ventricular tachycardia Hypertrichosis 1 1 ABCA5 (3) 0.07692 0.50000 1.428e-3 2.224e-3 Macrothrombocytopenia macrothrombocytopenia, isolated 1 1 TRPM7 (4) 0.07692 0.50000 1.428e-3 2.224e-3 Silver-russell syndrome Temple syndrome 1 1 DLK1 (2) 0.07692 0.50000 1.428e-3 2.224e-3 Congenital adrenal hyperplasia Toe syndactyly-telecanthus-anogenital and renal malformations syndrome 1 0 STAR (1) 0.07692 0.50000 1.428e-3 2.224e-3 Retinitis pigmentosa-deafness syndrome Usher syndrome type 1 1 1 MYO7A (2) 0.07692 0.50000 1.428e-3 2.224e-3 31 Retinitis pigmentosa-deafness syndrome Usher syndrome type 2 1 1 USH2A (2) 0.07692 0.50000 1.428e-3 2.224e-3 Cushing's disease Ventricular tachycardia 1 1 GNAI2 (2) 0.07692 0.50000 1.428e-3 2.224e-3 Hypertrichosis Ventricular tachycardia 1 1 ABCA5 (3) 0.07692 0.50000 1.428e-3 2.224e-3 Congenital fiber type disproportion myopathy X-linked myotubular myopathy 1 1 MTM1 (4) 0.07692 0.50000 1.428e-3 2.224e-3 Diastolic heart failure Sarcopenia 1 0 FTO (1) 0.07692 0.50000 1.428e-3 2.224e-3 Andersen-tawil syndrome Short qt syndrome 1 1 KCNJ2 (6) 0.07692 0.50000 1.428e-3 2.224e-3 Angiocentric glioma Demyelinating diseases 1 1 QKI (3) 0.07692 0.50000 1.428e-3 2.224e-3 Congenital pulmonary artery atresia Thromboangiitis obliterans 1 0 HLA-DRB1 (1) 0.07692 0.50000 1.428e-3 2.224e-3 254 Arthrogryposis De sanctis-cacchione syndrome 1 1 ERCC6 (4) 0.07692 0.50000 1.428e-3 2.224e-3 Blepharocheilodontic syndrome Ductal carcinoma 1 1 CDH1 (6) 0.07692 0.50000 1.428e-3 2.224e-3 Bombay phenotype Vitamin b12 deficiency 1 1 FUT2 (3) 0.07692 0.50000 1.428e-3 2.224e-3 100 Central precocious puberty Temple syndrome 1 1 DLK1 (2) 0.07692 0.50000 1.428e-3 2.224e-3 186 Central serous retinopathy Panuveitis 1 1 CFH (2) 0.07692 0.50000 1.428e-3 2.224e-3 32 Anhydramnios Cerebellar malformation 1 0 TMEM67 (1) 0.07692 0.50000 1.428e-3 2.224e-3 Chorioretinal atrophy Silver-russell syndrome 1 0 - (1) 0.07692 0.50000 1.428e-3 2.224e-3 323 Cochlear diseases Retinitis pigmentosa-deafness syndrome 1 1 PCDH15 (2) 0.07692 0.50000 1.428e-3 2.224e-3 Diffuse mesangial sclerosis Hematuria 1 1 COL4A4 (5) 0.07692 0.50000 1.428e-3 2.224e-3 91 Ataxia, spastic, autosomal dominant Presynaptic congenital myasthenic syndrome 1 1 VAMP1 (4) 0.07692 0.50000 1.428e-3 2.224e-3 5 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 2.224e-3 Colonic polyps Macrothrombocytopenia 1 1 TRPM7 (4) 0.07692 0.50000 1.428e-3 2.224e-3 Congenital cataract facial dysmorphism neuropathy syndrome Posterior subcapsular cataract 1 0 GJA3 (1) 0.07692 0.50000 1.428e-3 2.224e-3 51 Congenital lamellar cataract Lamellar cataract 1 1 HSF4 (3) 0.07692 0.50000 1.428e-3 2.224e-3 51 Combined oxidative phosphorylation defect Sialolithiasis 1 1 WARS2 (3) 0.04348 1.00000 1.429e-3 2.224e-3 Congenital central hypothyroidism Keratitis 1 1 TRHR (2) 0.04348 1.00000 1.429e-3 2.224e-3 Congenital merosin-deficient muscular dystrophy Congenital muscular dystrophy 1 1 LAMA2 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Bile duct neoplasms Cerebral arteriovenous malformations 1 1 EGFR (2) 0.04348 1.00000 1.429e-3 2.224e-3 Buschke-ollendorff syndrome Cerebral arteriovenous malformations 1 1 LEMD3 (4) 0.04348 1.00000 1.429e-3 2.224e-3 143 Camptosynpolydactyly Syndactyly 1 1 BHLHA9 (5) 0.04348 1.00000 1.429e-3 2.224e-3 Cataplexy Dysarthria 1 1 NPC1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 2,8-dihydroxyadenine urolithiasis Mucopolysaccharidosis 1 0 APRT (1) 0.04348 1.00000 1.429e-3 2.224e-3 Acheiropody Syndactyly 1 1 LMBR1 (5) 0.04348 1.00000 1.429e-3 2.224e-3 Acrocapitofemoral dysplasia Syndactyly 1 1 IHH (2) 0.04348 1.00000 1.429e-3 2.224e-3 189 Adenine phosphoribosyltransferase deficiency Mucopolysaccharidosis 1 1 APRT (2) 0.04348 1.00000 1.429e-3 2.224e-3 Adult polyglucosan body disease Synovitis, acne, pustulosis, hyperostosis, and osteitis 1 1 GBE1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 AKT2-related familial partial lipodystrophy Nasopharyngeal carcinoma 1 1 AKT2 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Congenital muscular dystrophy congenital muscular dystrophy with intellectual disability and severe epilepsy 1 1 DPM2 (4) 0.04348 1.00000 1.429e-3 2.224e-3 congenital myasthenic syndrome 6 Febrile convulsion 1 1 CHAT (2) 0.04348 1.00000 1.429e-3 2.224e-3 Congenital myelofibrosis with anemia Severe congenital neutropenia 1 1 RBSN (3) 0.04348 1.00000 1.429e-3 2.224e-3 211 Congenitally uncorrected transposition of the great arteries Heterotaxy syndrome 1 1 CFC1 (5) 0.04348 1.00000 1.429e-3 2.224e-3 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Keratitis 1 1 NLRP1 (4) 0.04348 1.00000 1.429e-3 2.224e-3 Cranio-cervical dystonia Febrile convulsion 1 1 ANO3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 228 Cyclic hematopoiesis Severe congenital neutropenia 1 1 ELANE (7) 0.04348 1.00000 1.429e-3 2.224e-3 Cerebral arteriovenous malformations Dermatofibrosis lenticularis disseminata 1 1 LEMD3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 143 arthrogryposis multiplex congenita 3, myogenic type Nasopharyngeal carcinoma 1 1 SYNE1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Autoimmune gastritis Gastritis 1 0 ATP4B (1) 0.04348 1.00000 1.429e-3 2.224e-3 1 Autoinflammation with arthritis and dyskeratosis Keratitis 1 1 NLRP1 (5) 0.04348 1.00000 1.429e-3 2.224e-3 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia 1 1 G6PC3 (5) 0.04348 1.00000 1.429e-3 2.224e-3 Benign mesial temporal lobe epilepsy Febrile convulsion 1 1 CPA6 (5) 0.04348 1.00000 1.429e-3 2.224e-3 Cerebellar vermis atrophy Cerebral arteriovenous malformations 1 0 SYN3 (1) 0.04348 1.00000 1.429e-3 2.224e-3 143 Cernunnos-XLF deficiency Syndactyly 1 1 NHEJ1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 189 Chylothorax Heterotaxy syndrome 1 1 PKD1L1 (4) 0.04348 1.00000 1.429e-3 2.224e-3 54 Coasy protein-associated neurodegeneration Mucopolysaccharidosis 1 1 COASY (2) 0.04348 1.00000 1.429e-3 2.224e-3 Coenzyme a synthase protein associated neurodegeneration Mucopolysaccharidosis 1 0 COASY (1) 0.04348 1.00000 1.429e-3 2.224e-3 Disabling pansclerotic morphea of childhood Polymyositis 1 1 STAT4 (3) 0.04348 1.00000 1.429e-3 2.224e-3 Centronuclear myopathy Dominant hereditary optic atrophy 1 0 OPA1 (1) 0.04348 1.00000 1.429e-3 2.224e-3 Dursun syndrome Severe congenital neutropenia 1 1 G6PC3 (6) 0.04348 1.00000 1.429e-3 2.224e-3 Dysbiosis Keratitis 1 1 TLR4 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Congenital muscular dystrophy Dysferlinopathy 1 1 DYSF (2) 0.04348 1.00000 1.429e-3 2.224e-3 Dysferlinopathy Synovitis, acne, pustulosis, hyperostosis, and osteitis 1 1 DYSF (3) 0.04348 1.00000 1.429e-3 2.224e-3 Dysarthria Dyskinesia with orofacial involvement 1 1 ADCY5 (5) 0.04348 1.00000 1.429e-3 2.224e-3 Dysarthria Dyskinesia, familial, with facial myokymia 1 1 ADCY5 (2) 0.04348 1.00000 1.429e-3 2.224e-3 ectodermal dysplasia and immunodeficiency 2 Nasopharyngeal carcinoma 1 1 NFKBIA (2) 0.04348 1.00000 1.429e-3 2.224e-3 SEC61A1 deficiency Severe congenital neutropenia 1 1 SEC61A1 (4) 0.04348 1.00000 1.429e-3 2.224e-3 Sialolithiasis Vesiculobullous skin disease 1 0 PRKN (1) 0.04348 1.00000 1.429e-3 2.224e-3 Sialolithiasis TRAF3 haploinsufficiency 1 1 TRAF3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 357 Sialolithiasis Wolcott-rallison syndrome 1 1 EIF2AK3 (5) 0.04348 1.00000 1.429e-3 2.224e-3 357 Cerebral arteriovenous malformations sorsby fundus dystrophy 1 1 TIMP3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Spontaneous coronary artery dissection Venous thrombosis 1 1 F3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 36 Dysarthria Striatal neurodegeneration 1 1 PDE8B (5) 0.04348 1.00000 1.429e-3 2.224e-3 leber congenital amaurosis 15 Syndactyly 1 1 TULP1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Iron metabolism disorder lessel-kreienkamp syndrome 1 1 AGO2 (2) 0.04348 1.00000 1.429e-3 2.224e-3 148 leukodystrophy, hypomyelinating, 16 Polymyositis 1 1 TMEM106B (2) 0.04348 1.00000 1.429e-3 2.224e-3 methylmalonic aciduria, cblb type Polymyositis 1 1 MMAB (2) 0.04348 1.00000 1.429e-3 2.224e-3 Mucopolysaccharidosis mucopolysaccharidosis type 1 1 1 IDUA (5) 0.04348 1.00000 1.429e-3 2.224e-3 Mucopolysaccharidosis mucopolysaccharidosis type 2 1 1 IDS (7) 0.04348 1.00000 1.429e-3 2.224e-3 Mucopolysaccharidosis mucopolysaccharidosis type 3A 1 1 SGSH (6) 0.04348 1.00000 1.429e-3 2.224e-3 147 Mucopolysaccharidosis mucopolysaccharidosis type 3B 1 1 NAGLU (6) 0.04348 1.00000 1.429e-3 2.224e-3 147 Mucopolysaccharidosis mucopolysaccharidosis type 3C 1 1 HGSNAT (6) 0.04348 1.00000 1.429e-3 2.224e-3 147 Mucopolysaccharidosis mucopolysaccharidosis type 3D 1 1 GNS (5) 0.04348 1.00000 1.429e-3 2.224e-3 147 Mucopolysaccharidosis mucopolysaccharidosis type 4A 1 1 GALNS (7) 0.04348 1.00000 1.429e-3 2.224e-3 147 Mucopolysaccharidosis mucopolysaccharidosis type 4B 1 1 GLB1 (6) 0.04348 1.00000 1.429e-3 2.224e-3 Mucopolysaccharidosis mucopolysaccharidosis type 6 1 1 ARSB (7) 0.04348 1.00000 1.429e-3 2.224e-3 Mucopolysaccharidosis mucopolysaccharidosis type 7 1 1 GUSB (7) 0.04348 1.00000 1.429e-3 2.224e-3 147 Mucopolysaccharidosis mucopolysaccharidosis type 9 1 1 HYAL1 (4) 0.04348 1.00000 1.429e-3 2.224e-3 Mucopolysaccharidosis mucopolysaccharidosis-plus syndrome 1 1 VPS33A (6) 0.04348 1.00000 1.429e-3 2.224e-3 147 Multiple epiphyseal dysplasia with early-onset diabetes mellitus Sialolithiasis 1 1 EIF2AK3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 357 Patterson stevenson fontaine syndrome Syndactyly 1 1 LMBR1 (4) 0.04348 1.00000 1.429e-3 2.224e-3 Centronuclear myopathy Periodic paralysis with transient compartment-like syndrome 1 1 CACNA1S (2) 0.04348 1.00000 1.429e-3 2.224e-3 periventricular nodular heterotopia 7 Syndactyly 1 1 NEDD4L (3) 0.04348 1.00000 1.429e-3 2.224e-3 Keratitis peutz-jeghers syndrome 1 1 STK11 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Gastritis platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 1 1 ARPC1B (2) 0.04348 1.00000 1.429e-3 2.224e-3 1 poirier-bienvenu neurodevelopmental syndrome Syndactyly 1 1 CSNK2B (2) 0.04348 1.00000 1.429e-3 2.224e-3 Centronuclear myopathy Multisystem disorder 1 1 TOR1AIP1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Congenital muscular dystrophy muscular dystrophy-dystroglycanopathy 1 1 LARGE1 (3) 0.04348 1.00000 1.429e-3 2.224e-3 40 Centronuclear myopathy myasthenic syndrome, congenital, 1b, fast-channel 1 1 CHRNA1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Congenital muscular dystrophy myopathy caused by variation in CRPPA 1 1 CRPPA (4) 0.04348 1.00000 1.429e-3 2.224e-3 40 Congenital muscular dystrophy myopathy caused by variation in FKRP 1 1 FKRP (5) 0.04348 1.00000 1.429e-3 2.224e-3 40 Congenital muscular dystrophy myopathy caused by variation in FKTN 1 1 FKTN (4) 0.04348 1.00000 1.429e-3 2.224e-3 40 Congenital muscular dystrophy myopathy caused by variation in GMPPB 1 1 GMPPB (4) 0.04348 1.00000 1.429e-3 2.224e-3 40 Congenital muscular dystrophy myopathy caused by variation in POMGNT1 1 1 POMGNT1 (4) 0.04348 1.00000 1.429e-3 2.224e-3 40 Congenital muscular dystrophy myopathy caused by variation in POMT1 1 1 POMT1 (4) 0.04348 1.00000 1.429e-3 2.224e-3 40 Congenital muscular dystrophy myopathy caused by variation in POMT2 1 1 POMT2 (4) 0.04348 1.00000 1.429e-3 2.224e-3 40 Centronuclear myopathy myopathy, centronuclear, 5 1 1 SPEG (4) 0.04348 1.00000 1.429e-3 2.224e-3 377 Centronuclear myopathy myopathy, centronuclear, 6, with fiber-type disproportion 1 1 MAP3K20 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Centronuclear myopathy nemaline myopathy 7 1 1 CFL2 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Erythematosquamous dermatosis netherton syndrome 1 1 SPINK5 (2) 0.04348 1.00000 1.429e-3 2.224e-3 263 Febrile convulsion neurodevelopmental disorder with hypotonia, epilepsy, and absent speech 1 1 UNC13A (2) 0.04348 1.00000 1.429e-3 2.224e-3 Cerebral arteriovenous malformations neurodevelopmental disorder with microcephaly, ataxia, and seizures 1 1 SARS1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 143 Febrile convulsion neurodevelopmental disorder with speech delay, movement abnormalities, and seizures 1 1 UNC13A (2) 0.04348 1.00000 1.429e-3 2.224e-3 Neutropenia, nonimmune chronic idiopathic, adult Severe congenital neutropenia 1 1 GFI1 (6) 0.04348 1.00000 1.429e-3 2.224e-3 211 Neutrophilic leukemia Severe congenital neutropenia 1 1 CSF3R (6) 0.04348 1.00000 1.429e-3 2.224e-3 211 Oculocerebrofacial syndrome Polymyositis 1 1 UBE3B (4) 0.04348 1.00000 1.429e-3 2.224e-3 Centronuclear myopathy OPA1-related optic atrophy with or without extraocular features 1 1 OPA1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Cerebral arteriovenous malformations Osteopoikilosis 1 0 LEMD3 (1) 0.04348 1.00000 1.429e-3 2.224e-3 143 Hemophilia a carriers Venous thrombosis 1 1 F8 (3) 0.04348 1.00000 1.429e-3 2.224e-3 Hyaluronoglucosaminidase deficiency Mucopolysaccharidosis 1 1 HYAL1 (5) 0.04348 1.00000 1.429e-3 2.224e-3 hypoinsulinemic hypoglycemia and body hemihypertrophy Nasopharyngeal carcinoma 1 1 AKT2 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Dysarthria Focal dystonia 1 1 GNAL (2) 0.04348 1.00000 1.429e-3 2.224e-3 FZD4-related exudative vitreoretinopathy Syndactyly 1 1 FZD4 (3) 0.04348 1.00000 1.429e-3 2.224e-3 189 Gingivitis Nasopharyngeal carcinoma 1 1 TNFRSF8 (2) 0.04348 1.00000 1.429e-3 2.224e-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 2.224e-3 GNPTAB-mucolipidosis Mucopolysaccharidosis 1 1 GNPTAB (2) 0.04348 1.00000 1.429e-3 2.224e-3 Gollop-wolfgang complex Syndactyly 1 1 BHLHA9 (4) 0.04348 1.00000 1.429e-3 2.224e-3 Iron metabolism disorder TFRC-related combined immunodeficiency 1 1 TFRC (3) 0.04348 1.00000 1.429e-3 2.224e-3 Centronuclear myopathy TOR1AIP1-related myopathy 1 1 TOR1AIP1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Dysarthria Troyer syndrome 1 1 SPART (4) 0.04348 1.00000 1.429e-3 2.224e-3 241 Erythematosquamous dermatosis Tyrosine kinase 2 deficiency 1 1 TYK2 (3) 0.04348 1.00000 1.429e-3 2.224e-3 Severe congenital neutropenia X-linked severe congenital neutropenia 1 1 WAS (6) 0.04348 1.00000 1.429e-3 2.224e-3 Severe congenital neutropenia X-linked thrombocytopenia 1 1 WAS (4) 0.04348 1.00000 1.429e-3 2.224e-3 Dysarthria xeroderma pigmentosum group G 1 1 ERCC5 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Centronuclear myopathy immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1 1 FOXP3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Hydranencephaly immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1 1 FOXP3 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Erythematosquamous dermatosis Intellectual developmental disorder dysmorphic macrocephaly 1 1 ZBTB7A (2) 0.04348 1.00000 1.429e-3 2.224e-3 IRIDA syndrome Iron metabolism disorder 1 1 TMPRSS6 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Hydranencephaly joubert syndrome 14 1 1 TMEM237 (2) 0.04348 1.00000 1.429e-3 2.224e-3 124 Hydranencephaly joubert syndrome 36 1 1 FAM149B1 (2) 0.04348 1.00000 1.429e-3 2.224e-3 124 Congenital muscular dystrophy LAMA2-related muscular dystrophy 1 1 LAMA2 (2) 0.04348 1.00000 1.429e-3 2.224e-3 Atypical femoral fracture Skeletal dysplasia 2 2 CHST3 (3), GALNS (2) 0.03390 0.08696 1.377e-3 2.166e-3 Becker muscular dystrophy Leiomyosarcoma 1 1 DMD (5) 0.10000 0.33333 1.363e-3 2.146e-3 212 14q11.2 microduplication syndrome Dextrocardia 1 1 SUPT16H (2) 0.10000 0.33333 1.363e-3 2.146e-3 Acne inversa Hereditary hemorrhagic telangiectasia 1 1 PSEN1 (2) 0.10000 0.33333 1.363e-3 2.146e-3 Congenital bone marrow failure syndrome Shwachman-diamond syndrome 1 1 DNAJC21 (6) 0.10000 0.33333 1.363e-3 2.146e-3 319 Ataxia with vitamin e deficiency Binge eating disorder 1 1 APOB (3) 0.10000 0.33333 1.363e-3 2.146e-3 Binge eating disorder Hypobetalipoproteinemia 1 1 APOB (4) 0.10000 0.33333 1.363e-3 2.146e-3 201 Binge eating disorder Imerslund-grasbeck syndrome 1 1 CUBN (6) 0.10000 0.33333 1.363e-3 2.146e-3 Bladder disease Epilepsy with myoclonic atonic seizures 1 1 SLC6A1 (3) 0.10000 0.33333 1.363e-3 2.146e-3 99 Bladder disease Extravasation of diagnostic and therapeutic materials 1 1 HRH1 (2) 0.10000 0.33333 1.363e-3 2.146e-3 Brown tendon sheath syndrome Torsion dystonia 1 1 TUBB4A (3) 0.10000 0.33333 1.363e-3 2.146e-3 Desbuquois dysplasia Graft versus host disease 1 1 XYLT1 (4) 0.10000 0.33333 1.363e-3 2.146e-3 Caudal regression syndrome Congenital omphalocele 1 0 PCSK5 (1) 0.10000 0.33333 1.363e-3 2.146e-3 109 Cholestasis Testicular neoplasms 1 1 ERCC1 (2) 0.10000 0.33333 1.363e-3 2.146e-3 Chudley-mccullough syndrome Hereditary elliptocytosis 1 1 SPTB (4) 0.10000 0.33333 1.363e-3 2.146e-3 271 Extravasation of diagnostic and therapeutic materials Imerslund-grasbeck syndrome 1 1 AMN (6) 0.10000 0.33333 1.363e-3 2.146e-3 Focal cortical dysplasia Intellectual developmental disorder speech autism dysmorphic 1 0 TBR1 (1) 0.10000 0.33333 1.363e-3 2.146e-3 Griscelli syndrome Hereditary elliptocytosis 1 1 MYO5A (7) 0.10000 0.33333 1.363e-3 2.146e-3 hearing loss, autosomal recessive Pericardium disorder 1 1 PTPRQ (2) 0.10000 0.33333 1.363e-3 2.146e-3 279 Hepatitis c induced liver cirrhosis Pemphigus vulgaris 1 0 HLA-DRA (1) 0.10000 0.33333 1.363e-3 2.146e-3 1 Hereditary elliptocytosis Hereditary xerocytosis 1 1 SLC4A1 (3) 0.10000 0.33333 1.363e-3 2.146e-3 Follicular thyroid cancer Ovarian diseases 1 1 CGA (2) 0.10000 0.33333 1.363e-3 2.146e-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 2.146e-3 Hepatic veno occlusive disease Pseudo-torch syndrome 1 1 OCLN (6) 0.10000 0.33333 1.363e-3 2.146e-3 Leiomyosarcoma Pseudo-torch syndrome 1 1 USP18 (6) 0.10000 0.33333 1.363e-3 2.146e-3 212 Anuria Renal hypertension 1 1 AGT (2) 0.10000 0.33333 1.363e-3 2.146e-3 Rhegmatogenous retinal detachment Synovial sarcoma 1 1 SS18 (2) 0.10000 0.33333 1.363e-3 2.146e-3 Hypohidrotic ectodermal dysplasia Unverricht-lundborg syndrome 1 1 CSTB (6) 0.10000 0.33333 1.363e-3 2.146e-3 Vitamin d deficiency Vitamin d dependent rickets 1 1 VDR (5) 0.10000 0.33333 1.363e-3 2.146e-3 Hereditary elliptocytosis Xerocytosis 1 1 SLC4A1 (2) 0.10000 0.33333 1.363e-3 2.146e-3 Emery-dreifuss muscular dystrophy Estrogen resistance 1 1 ESR1 (5) 0.10000 0.33333 1.363e-3 2.146e-3 Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa 1 1 PLEC (8) 0.04545 1.00000 1.364e-3 2.146e-3 229 Cushing syndrome familial hyperaldosteronism type III 1 1 KCNJ5 (2) 0.04545 1.00000 1.364e-3 2.146e-3 free sialic acid storage disease Intracerebral hemorrhage 1 1 SLC17A5 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Gingivitis Graft-versus-host disease 1 1 TNFRSF8 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Cushing syndrome Glucocorticoid receptor deficiency/resistance 1 1 NR3C1 (6) 0.04545 1.00000 1.364e-3 2.146e-3 Graft-versus-host disease Granulomatous inflammatory arthritis-dermatitis-uveitis, familial 1 0 NOD2 (1) 0.04545 1.00000 1.364e-3 2.146e-3 Ataxia Parkinson-dementia syndrome 1 1 MAPT (2) 0.04545 1.00000 1.364e-3 2.146e-3 Epidermolysis bullosa PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 1 1 PLEC (8) 0.04545 1.00000 1.364e-3 2.146e-3 229 Beta thalassemia Postaxial acrofacial dysostosis 1 1 DHODH (5) 0.04545 1.00000 1.364e-3 2.146e-3 primary ciliary dyskinesia 13 Situs ambiguus 1 1 DNAAF1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 54 primary ciliary dyskinesia 14 Situs ambiguus 1 1 CCDC39 (2) 0.04545 1.00000 1.364e-3 2.146e-3 primary ciliary dyskinesia 15 Situs ambiguus 1 1 CCDC40 (2) 0.04545 1.00000 1.364e-3 2.146e-3 primary ciliary dyskinesia 19 Situs ambiguus 1 1 DNAAF11 (2) 0.04545 1.00000 1.364e-3 2.146e-3 54 primary ciliary dyskinesia 26 Situs ambiguus 1 1 CFAP298 (2) 0.04545 1.00000 1.364e-3 2.146e-3 54 primary ciliary dyskinesia 3 Situs ambiguus 1 1 DNAH5 (2) 0.04545 1.00000 1.364e-3 2.146e-3 primary ciliary dyskinesia 35 Situs ambiguus 1 1 ODAD4 (2) 0.04545 1.00000 1.364e-3 2.146e-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 2.146e-3 Brachydactyly Proximal symphalangism 1 1 NOG (5) 0.04545 1.00000 1.364e-3 2.146e-3 Beta thalassemia hemochromatosis type 2B 1 1 HAMP (3) 0.04545 1.00000 1.364e-3 2.146e-3 148 Beta thalassemia hemochromatosis type 3 1 1 TFR2 (3) 0.04545 1.00000 1.364e-3 2.146e-3 148 Epidermolysis bullosa hereditary sensory and autonomic neuropathy type 6 1 1 DST (7) 0.04545 1.00000 1.364e-3 2.146e-3 Brachydactyly Hypertension and brachydactyly syndrome 1 1 PDE3A (3) 0.04545 1.00000 1.364e-3 2.146e-3 Graft-versus-host disease inflammatory bowel disease 25 1 1 IL10RB (2) 0.04545 1.00000 1.364e-3 2.146e-3 Beta thalassemia Intellectual developmental disorder hemoglobin persistence 1 1 BCL11A (3) 0.04545 1.00000 1.364e-3 2.146e-3 Brachydactyly Intellectual developmental disorder with retinitis pigmentosa 1 1 SCAPER (4) 0.04545 1.00000 1.364e-3 2.146e-3 Hemorrhagic disease Intracranial germ cell tumor 1 0 BAK1 (1) 0.04545 1.00000 1.364e-3 2.146e-3 Brachydactyly leber congenital amaurosis 15 1 1 TULP1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Hemorrhagic disease macrothrombocytopenia, isolated, 1, autosomal dominant 1 1 TUBB1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Epidermolysis bullosa mucopolysaccharidosis type 2 1 1 IDS (2) 0.04545 1.00000 1.364e-3 2.146e-3 229 Epidermolysis bullosa Nephropathy with pretibial epidermolysis bullosa and deafness 1 1 CD151 (5) 0.04545 1.00000 1.364e-3 2.146e-3 Epidermolysis bullosa Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome 1 1 CD151 (5) 0.04545 1.00000 1.364e-3 2.146e-3 Epidermolysis bullosa Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome 1 1 CD151 (4) 0.04545 1.00000 1.364e-3 2.146e-3 Brachydactyly NOG-related symphalangism spectrum disorder 1 1 NOG (6) 0.04545 1.00000 1.364e-3 2.146e-3 Epidermolysis bullosa occult macular dystrophy 1 1 RP1L1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Cushing syndrome Oropharyngeal dysphagia 1 0 ATP2B3 (1) 0.04545 1.00000 1.364e-3 2.146e-3 Beta thalassemia TFRC-related combined immunodeficiency 1 1 TFRC (3) 0.04545 1.00000 1.364e-3 2.146e-3 Hemorrhagic disease TPM4-related platelet disorder 1 1 TPM4 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Crest syndrome TTC8-related ciliopathy 1 1 TTC8 (2) 0.04545 1.00000 1.364e-3 2.146e-3 22 Epidermolysis bullosa Ulnar-fibular ray defect and brachydactyly 1 0 RP1L1 (1) 0.04545 1.00000 1.364e-3 2.146e-3 Ataxia Urocanase deficiency 1 1 UROC1 (3) 0.04545 1.00000 1.364e-3 2.146e-3 Ataxia Urocanate hydratase deficiency 1 1 UROC1 (5) 0.04545 1.00000 1.364e-3 2.146e-3 Cushing syndrome X-linked non progressive cerebellar ataxia 1 1 ATP2B3 (3) 0.04545 1.00000 1.364e-3 2.146e-3 Graft-versus-host disease Yao syndrome 1 1 NOD2 (3) 0.04545 1.00000 1.364e-3 2.146e-3 Bladder exstrophy Yellow nail syndrome 1 1 CELSR1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Postaxial polydactyly Zunich neuroectodermal syndrome 1 1 PIGL (2) 0.04545 1.00000 1.364e-3 2.146e-3 Right isomerism Situs ambiguus 1 1 GDF1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Crest syndrome spinocerebellar ataxia, autosomal recessive 25 1 1 ATG5 (2) 0.04545 1.00000 1.364e-3 2.146e-3 22 Cushing syndrome Steroid 11-beta-monooxygenase deficiency 1 1 CYP11B1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Charcot-Marie-tooth disease, axonal, type 2DD Cushing syndrome 1 1 ATP1A1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 296 Chylothorax Situs ambiguus 1 0 PKD1L1 (1) 0.04545 1.00000 1.364e-3 2.146e-3 54 ciliary dyskinesia, primary, 38 Situs ambiguus 1 1 CFAP300 (2) 0.04545 1.00000 1.364e-3 2.146e-3 54 ciliary dyskinesia, primary, 40 Situs ambiguus 1 1 DNAH9 (2) 0.04545 1.00000 1.364e-3 2.146e-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 2.146e-3 Bmp4-related ocular growth disorder Congenital anomalies of kidney and urinary tract 1 1 BMP4 (3) 0.04545 1.00000 1.364e-3 2.146e-3 Congenital anomalies of kidney and urinary tract Yuksel-vogel-bauer syndrome 1 1 DLG5 (4) 0.04545 1.00000 1.364e-3 2.146e-3 Congenital anomalies of kidney and urinary tract Zhu-tokita-takenouchi-kim syndrome 1 1 SON (7) 0.04545 1.00000 1.364e-3 2.146e-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 2.146e-3 Atrial myxoma Cushing syndrome 1 1 PRKAR1A (5) 0.04545 1.00000 1.364e-3 2.146e-3 autosomal systemic lupus erythematosus type 16 Crest syndrome 1 1 DNASE1L3 (2) 0.04545 1.00000 1.364e-3 2.146e-3 22 BBS10-related ciliopathy Postaxial polydactyly 1 1 BBS10 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Bilateral frontoparietal polymicrogyria Intracerebral hemorrhage 1 1 ADGRG1 (5) 0.04545 1.00000 1.364e-3 2.146e-3 2q37 microdeletion syndrome Brachydactyly 1 1 HDAC4 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Acrocapitofemoral dysplasia Brachydactyly 1 1 IHH (6) 0.04545 1.00000 1.364e-3 2.146e-3 Angel-shaped phalangoepiphyseal dysplasia Brachydactyly 1 1 GDF5 (7) 0.04545 1.00000 1.364e-3 2.146e-3 Crest syndrome Disabling pansclerotic morphea of childhood 1 1 STAT4 (4) 0.04545 1.00000 1.364e-3 2.146e-3 Beta thalassemia Conn syndrome 1 1 CACNA1H (2) 0.04545 1.00000 1.364e-3 2.146e-3 Conn syndrome Cushing syndrome 1 0 CACNA1H (1) 0.04545 1.00000 1.364e-3 2.146e-3 Acro-dermo-ungual-lacrimal-tooth syndrome Bladder exstrophy 1 1 TP63 (2) 0.04545 1.00000 1.364e-3 2.146e-3 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Bladder exstrophy 1 1 TP63 (5) 0.04545 1.00000 1.364e-3 2.146e-3 30 Bladder exstrophy Limb-mammary syndrome 1 1 TP63 (5) 0.04545 1.00000 1.364e-3 2.146e-3 30 Bladder exstrophy Rudiger syndrome 1 1 TP63 (2) 0.04545 1.00000 1.364e-3 2.146e-3 30 Blau syndrome Graft-versus-host disease 1 1 NOD2 (7) 0.04545 1.00000 1.364e-3 2.146e-3 Brachydactyly Brachydactyly with hypertension 1 1 PDE3A (5) 0.04545 1.00000 1.364e-3 2.146e-3 Ataxia Cataplexy 1 1 NPC1 (2) 0.04545 1.00000 1.364e-3 2.146e-3 Cardiac arrest Coronary aneurysm 2 2 KCNN2 (2), NEBL (2) 0.03509 0.07692 1.318e-3 2.090e-3 Anhedonia Esophageal atresia 2 0 ATP1A3 (1), CACNA1C (1) 0.03509 0.07692 1.318e-3 2.090e-3 196 Eye abnormalities Ocular hypertension 2 1 CRPPA (3), SH3PXD2B (1) 0.03077 0.11765 1.309e-3 2.076e-3 muscular dystrophy, limb-girdle, autosomal dominant Paresthesia 1 1 CAPN3 (2) 0.11111 0.25000 1.298e-3 2.060e-3 Disruptive impulse-control and conduct disorder Myoclonic dystonia 1 1 DRD2 (2) 0.11111 0.25000 1.298e-3 2.060e-3 118 Myoclonic encephalopathy Tubulinopathy 1 1 TUBA1A (3) 0.11111 0.25000 1.298e-3 2.060e-3 Neural tube defects, susceptibility to Sacral agenesis 1 1 TBXT (5) 0.11111 0.25000 1.298e-3 2.060e-3 Male breast carcinoma Male breast neoplasms 1 1 RAD51B (2) 0.11111 0.25000 1.298e-3 2.060e-3 Hypochromic microcytic anemia Microcytic anemia 1 1 SLC11A2 (7) 0.11111 0.25000 1.298e-3 2.060e-3 Gastrointestinal neoplasms Miller-dieker syndrome 1 1 HIC1 (2) 0.11111 0.25000 1.298e-3 2.060e-3 Benign neonatal epilepsy Hemiplegia 1 1 SCN2A (2) 0.11111 0.25000 1.298e-3 2.060e-3 213 Cerebral cortical atrophy Paraplegia 1 1 SPG7 (2) 0.11111 0.25000 1.298e-3 2.060e-3 348 Beta-mannosidosis Post-operative atrial fibrillation 1 1 ADGRV1 (2) 0.11111 0.25000 1.298e-3 2.060e-3 Post-operative atrial fibrillation Testotoxicosis 1 1 STON1-GTF2A1L (2) 0.11111 0.25000 1.298e-3 2.060e-3 Chilblain lupus erythematosus Interferonopathy 1 1 SAMHD1 (6) 0.11111 0.25000 1.298e-3 2.060e-3 Ewing sarcoma Extraskeletal ewing sarcoma 1 1 EWSR1 (3) 0.11111 0.25000 1.298e-3 2.060e-3 Ewing sarcoma Visceral heterotaxy 1 1 CIROZ (2) 0.11111 0.25000 1.298e-3 2.060e-3 Aplasia cutis congenita Galactokinase deficiency 1 1 ITGB4 (3) 0.11111 0.25000 1.298e-3 2.060e-3 Glycogen phosphorylase kinase deficiency Ocular albinism 1 1 PHKA2 (2) 0.11111 0.25000 1.298e-3 2.060e-3 22q13.3 deletion syndrome Urinary bladder diseases 1 1 INS (2) 0.11111 0.25000 1.298e-3 2.060e-3 224 Sacral agenesis Vitamin a deficiency 1 1 BMP4 (2) 0.11111 0.25000 1.298e-3 2.060e-3 27 Respiratory system neoplasm Waldenstrom macroglobulinemia 1 0 IRF4 (1) 0.11111 0.25000 1.298e-3 2.060e-3 1 Craniofacial ulnar renal syndrome Wiedemann-steiner syndrome 1 0 CHD7 (1) 0.11111 0.25000 1.298e-3 2.060e-3 Choanal atresia syndrome Craniofacial ulnar renal syndrome 1 0 CHD7 (1) 0.11111 0.25000 1.298e-3 2.060e-3 Christ-siemens-touraine syndrome Craniofrontonasal dysplasia 1 1 EDA (2) 0.11111 0.25000 1.298e-3 2.060e-3 76 Crystal arthropathy Pseudoxanthoma elasticum 1 1 ENPP1 (2) 0.11111 0.25000 1.298e-3 2.060e-3 207 Auriculocondylar syndrome Bronchiolitis obliterans 1 1 EDN1 (7) 0.11111 0.25000 1.298e-3 2.060e-3 Cerebellar atrophy with seizures and variable developmental delay Paroxysmal nonkinesigenic dyskinesia 1 1 KCNMA1 (4) 0.11111 0.25000 1.298e-3 2.060e-3 85 complex neurodevelopmental disorder with or without congenital anomalies Congenital ptosis 1 1 MYH10 (2) 0.11111 0.25000 1.298e-3 2.060e-3 Congenital chloride diarrhea Congenital diarrhea 1 1 GRWD1 (2) 0.11111 0.25000 1.298e-3 2.060e-3 275 Bundle branch block Intellectual developmental disorder speech dysmorphic 1 1 SETBP1 (2) 0.11111 0.25000 1.298e-3 2.060e-3 341 Carcinoid tumor Sapho syndrome 1 1 CDKAL1 (2) 0.11111 0.25000 1.298e-3 2.060e-3 Anti-nmda receptor encephalitis Littles disease 1 1 IFIH1 (2) 0.11111 0.25000 1.298e-3 2.060e-3 Aprosencephaly Coach syndrome 1 1 RPGRIP1L (3) 0.11111 0.25000 1.298e-3 2.060e-3 Disseminated superficial actinic porokeratosis Hyper-immunoglobulin d syndrome 1 1 MVK (3) 0.11111 0.25000 1.298e-3 2.060e-3 Dowling degos disease Weber-cockayne syndrome 1 1 KRT5 (6) 0.11111 0.25000 1.298e-3 2.060e-3 Coach syndrome Encephalocele 1 1 CC2D2A (3) 0.11111 0.25000 1.298e-3 2.060e-3 Endocrine neoplasms Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 1 PRICKLE2 (2) 0.11111 0.25000 1.298e-3 2.060e-3 Apraxia Developmental delay with variable intellectual disability 1 1 JARID2 (5) 0.08333 0.50000 1.298e-3 2.060e-3 Diaphragm disease Leiomyoma 1 1 WNT5B (2) 0.08333 0.50000 1.298e-3 2.060e-3 91 Dubowitz syndrome Omenn syndrome 1 1 LIG4 (3) 0.08333 0.50000 1.298e-3 2.060e-3 Angelman syndrome Duplication 15q11-q13 syndrome 1 1 UBE3A (7) 0.08333 0.50000 1.298e-3 2.060e-3 Cavitary optic disk anomaly Delirium 1 1 APOE (2) 0.08333 0.50000 1.298e-3 2.060e-3 Cebalid syndrome Facial dysmorphism syndrome 1 1 MN1 (6) 0.08333 0.50000 1.298e-3 2.060e-3 Central nervous system malformation Partial lipodystrophy 1 1 LMNB2 (2) 0.08333 0.50000 1.298e-3 2.060e-3 79 Childhood hypophosphatasia Ureterolithiasis 1 1 ALPL (4) 0.08333 0.50000 1.298e-3 2.060e-3 Childhood-onset spinal muscular atrophy Saldino-noonan syndrome 1 1 DYNC1H1 (3) 0.08333 0.50000 1.298e-3 2.060e-3 Beckwith-wiedemann syndrome Chorioretinal atrophy 1 0 - (1) 0.08333 0.50000 1.298e-3 2.060e-3 323 Contracture Soft tissue neoplasms 1 0 EPHB1 (1) 0.08333 0.50000 1.298e-3 2.060e-3 Contracture Dermatosparaxis ehlers-danlos syndrome 1 1 ADAMTSL2 (2) 0.08333 0.50000 1.298e-3 2.060e-3 28 autosomal dominant medullary cystic kidney disease with or without hyperuricemia Hypertensive heart disease 1 1 UMOD (2) 0.08333 0.50000 1.298e-3 2.060e-3 Bartsocas-papas syndrome Congenital skin anomaly 1 1 CHUK (5) 0.08333 0.50000 1.298e-3 2.060e-3 Bartsocas-papas syndrome Skin abnormalities 1 1 CHUK (6) 0.08333 0.50000 1.298e-3 2.060e-3 Acetyl-coa acetyltransferase deficiency Carbohydrate metabolism disease 1 1 ACAT1 (2) 0.08333 0.50000 1.298e-3 2.060e-3 Adrenoleukodystrophy Eye disorder 1 1 SCD (2) 0.08333 0.50000 1.298e-3 2.060e-3 Amed syndrome Head and neck cancer 1 1 ALDH2 (2) 0.08333 0.50000 1.298e-3 2.060e-3 Apraxia Ophthalmoplegia 1 0 NPC1 (1) 0.08333 0.50000 1.298e-3 2.060e-3 231 Combined immunodeficiency, x-linked Omenn syndrome 1 1 IL2RG (5) 0.08333 0.50000 1.298e-3 2.060e-3 Congenital dyserythropoietic anemia Familial mediterranean fever 1 0 ABCB1 (1) 0.08333 0.50000 1.298e-3 2.060e-3 120 Congenital mesoblastic nephroma Myelomonocytic leukemia 1 0 ETV6 (1) 0.08333 0.50000 1.298e-3 2.060e-3 Bilateral generalized polymicrogyria Laryngeal carcinoma 1 1 RTTN (3) 0.08333 0.50000 1.298e-3 2.060e-3 Bile duct disease Porphyria 1 1 FECH (2) 0.08333 0.50000 1.298e-3 2.060e-3 Brain atrophy Early onset alzheimers disease with behavioral disturbance 1 0 LRRK2 (1) 0.08333 0.50000 1.298e-3 2.060e-3 Brittle cornea syndrome Congenital skin anomaly 1 1 ZNF469 (6) 0.08333 0.50000 1.298e-3 2.060e-3 396 Brittle cornea syndrome Skin abnormalities 1 1 ZNF469 (5) 0.08333 0.50000 1.298e-3 2.060e-3 396 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Contracture 1 1 PRG4 (6) 0.08333 0.50000 1.298e-3 2.060e-3 28 Brachycephaly Thyroid hormone resistance 1 1 TRHR (2) 0.08333 0.50000 1.298e-3 2.060e-3 Delirium Tyrosine hydroxylase–deficient dopa-responsive dystonia 1 1 TH (2) 0.08333 0.50000 1.298e-3 2.060e-3 Headache Water intoxication 1 1 OXT (2) 0.08333 0.50000 1.298e-3 2.060e-3 Cornelia de lange syndrome Wilson-turner syndrome 1 1 HDAC8 (7) 0.08333 0.50000 1.298e-3 2.060e-3 301 Dwarfism Witteveen-kolk syndrome 1 1 SIN3A (3) 0.08333 0.50000 1.298e-3 2.060e-3 Omenn syndrome Partial adenosine deaminase deficiency 1 1 ADA (3) 0.08333 0.50000 1.298e-3 2.060e-3 Lig4 syndrome Omenn syndrome 1 1 LIG4 (5) 0.08333 0.50000 1.298e-3 2.060e-3 Mountain sickness Tricuspid valve disease 1 0 AEBP2 (1) 0.08333 0.50000 1.298e-3 2.060e-3 Craniodiaphyseal dysplasia Saldino-mainzer syndrome 1 1 IFT140 (3) 0.08333 0.50000 1.298e-3 2.060e-3 Sjogren-larsson syndrome Tongue neoplasms 1 1 KRT14 (2) 0.08333 0.50000 1.298e-3 2.060e-3 270 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young monogenic diabetes 1 1 HNF4A (6) 0.08333 0.50000 1.298e-3 2.060e-3 Follicular cyst Hypertensive heart disease 1 1 SCARB1 (3) 0.08333 0.50000 1.298e-3 2.060e-3 Genitourinary disease Ureterolithiasis 1 0 BCAS3 (1) 0.08333 0.50000 1.298e-3 2.060e-3 Glycoprotein ia deficiency Iron deficiency anemia 1 0 ITGA2 (1) 0.08333 0.50000 1.298e-3 2.060e-3 immunodeficiency 104 Omenn syndrome 1 1 IL7R (4) 0.08333 0.50000 1.298e-3 2.060e-3 Iron deficiency anemia Iron-refractory iron deficiency anemia 1 1 TMPRSS6 (4) 0.08333 0.50000 1.298e-3 2.060e-3 immunodeficiency, common variable, 12 Upper respiratory tract disorder 1 1 NFKB1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 103 immunodeficiency, common variable, 2 Upper respiratory tract disorder 1 1 TNFRSF13B (2) 0.04762 1.00000 1.299e-3 2.060e-3 inherited blood coagulation disorder Platelet-type bleeding disorder 1 1 APOLD1 (4) 0.04762 1.00000 1.299e-3 2.060e-3 67 Cutis laxa inherited pseudoxanthoma elasticum 1 1 ABCC6 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Intellectual developmental disorder dysmorphic macrocephaly Upper respiratory tract disorder 1 1 ZBTB7A (2) 0.04762 1.00000 1.299e-3 2.060e-3 103 Congenital diaphragmatic hernia Intellectual developmental disorder hypotonia behavioral 1 1 CDK8 (4) 0.04762 1.00000 1.299e-3 2.060e-3 Dandy-walker syndrome joubert syndrome 21 1 1 CSPP1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 8 Dandy-walker syndrome joubert syndrome 30 1 1 ARMC9 (2) 0.04762 1.00000 1.299e-3 2.060e-3 8 leukemia, acute myeloid, susceptibility to Splenomegaly 1 1 FLT3 (2) 0.04762 1.00000 1.299e-3 2.060e-3 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy Oral submucous fibrosis 1 1 CST3 (3) 0.04762 1.00000 1.299e-3 2.060e-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 2.060e-3 MECOM-associated syndrome Splenomegaly 1 1 MECOM (2) 0.04762 1.00000 1.299e-3 2.060e-3 Parkinson-dementia syndrome Splenomegaly 1 1 MAPT (2) 0.04762 1.00000 1.299e-3 2.060e-3 17 Platelet-type bleeding disorder platelet-type bleeding disorder 11 1 1 GP6 (6) 0.04762 1.00000 1.299e-3 2.060e-3 Platelet-type bleeding disorder platelet-type bleeding disorder 12 1 1 PTGS1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Platelet-type bleeding disorder platelet-type bleeding disorder 15 1 1 ACTN1 (6) 0.04762 1.00000 1.299e-3 2.060e-3 67 Platelet-type bleeding disorder platelet-type bleeding disorder 17 1 1 GFI1B (4) 0.04762 1.00000 1.299e-3 2.060e-3 Platelet-type bleeding disorder platelet-type bleeding disorder 18 1 1 RASGRP2 (7) 0.04762 1.00000 1.299e-3 2.060e-3 67 Platelet-type bleeding disorder platelet-type bleeding disorder 20 1 1 SLFN14 (6) 0.04762 1.00000 1.299e-3 2.060e-3 Platelet-type bleeding disorder platelet-type bleeding disorder 8 1 1 P2RY12 (6) 0.04762 1.00000 1.299e-3 2.060e-3 primary ciliary dyskinesia 17 Situs inversus 1 1 DNAAF19 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Fraser syndrome primary ciliary dyskinesia 20 1 1 ODAD1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 90 primary ciliary dyskinesia 3 Situs inversus 1 1 DNAH5 (2) 0.04762 1.00000 1.299e-3 2.060e-3 primary ciliary dyskinesia 7 Situs inversus 1 1 DNAH11 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Hypertensive nephropathy PRKAG2-related cardiomyopathy 1 1 PRKAG2 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Intrahepatic cholestasis of pregnancy progressive familial intrahepatic cholestasis type 3 1 1 ABCB4 (4) 0.04762 1.00000 1.299e-3 2.060e-3 135 Prolidase deficiency Splenomegaly 1 1 PEPD (3) 0.04762 1.00000 1.299e-3 2.060e-3 Platelet-type bleeding disorder Thrombasthenia-thrombocytopenia 1 1 GFI1B (6) 0.04762 1.00000 1.299e-3 2.060e-3 Platelet-type bleeding disorder Thrombocytopenia with platelet secretion defect 1 1 SLFN14 (7) 0.04762 1.00000 1.299e-3 2.060e-3 Platelet-type bleeding disorder TPM4-related platelet disorder 1 1 TPM4 (5) 0.04762 1.00000 1.299e-3 2.060e-3 67 Dandy-walker syndrome Turricephaly 1 1 ZIC1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Visual disorder Vitamin e deficiency 1 1 TTPA (4) 0.04762 1.00000 1.299e-3 2.060e-3 Antiphospholipid syndrome X-linked hyper-igm syndrome 1 1 CD40LG (2) 0.04762 1.00000 1.299e-3 2.060e-3 Dandy-walker syndrome X-linked opitz syndrome 1 1 MID1 (4) 0.04762 1.00000 1.299e-3 2.060e-3 Congenital diaphragmatic hernia X-linked osteoporosis 1 1 PLS3 (3) 0.04762 1.00000 1.299e-3 2.060e-3 nephronophthisis 16 Situs inversus 1 1 ANKS6 (3) 0.04762 1.00000 1.299e-3 2.060e-3 nizon-isidor syndrome Platelet-type bleeding disorder 1 1 MED12L (2) 0.04762 1.00000 1.299e-3 2.060e-3 67 NOTCH1-related AOS spectrum disorder Splenomegaly 1 1 NOTCH1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Hoarding disorder lamb-shaffer syndrome 1 1 SOX5 (2) 0.04762 1.00000 1.299e-3 2.060e-3 focal segmental glomerulosclerosis 4, susceptibility to Hypertensive nephropathy 1 1 APOL1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 313 Fraser syndrome fraser syndrome 3 1 1 GRIP1 (6) 0.04762 1.00000 1.299e-3 2.060e-3 90 FZD4-related exudative vitreoretinopathy Retinopathy of prematurity 1 1 FZD4 (3) 0.04762 1.00000 1.299e-3 2.060e-3 189 Fraser syndrome Genetic infertility 1 1 SPATA22 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Cutis laxa glycogen storage disease due to glycogen branching enzyme deficiency 1 1 GBE1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Glycoprotein vi deficiency Platelet-type bleeding disorder 1 1 GP6 (7) 0.04762 1.00000 1.299e-3 2.060e-3 gnathodiaphyseal dysplasia Visual disorder 1 1 ANO5 (2) 0.04762 1.00000 1.299e-3 2.060e-3 191 Dandy-walker syndrome Right aortic arch 1 0 BLTP1 (1) 0.04762 1.00000 1.299e-3 2.060e-3 Hypertensive nephropathy Sebastian syndrome 1 1 MYH9 (2) 0.04762 1.00000 1.299e-3 2.060e-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 2.060e-3 Dandy-walker syndrome SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 1 1 SETD2 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Congenital diaphragmatic hernia SIN3A-related intellectual disability syndrome 1 1 SIN3A (3) 0.04762 1.00000 1.299e-3 2.060e-3 362 Platelet-type bleeding disorder Sleep deprivation 1 1 PTGS1 (3) 0.04762 1.00000 1.299e-3 2.060e-3 Biotinidase deficiency Cryptorchidism 1 1 BTD (7) 0.04762 1.00000 1.299e-3 2.060e-3 111 bleeding disorder, platelet-type, 22 Platelet-type bleeding disorder 1 1 EPHB2 (5) 0.04762 1.00000 1.299e-3 2.060e-3 67 Bnar syndrome Congenital diaphragmatic hernia 1 1 FREM1 (4) 0.04762 1.00000 1.299e-3 2.060e-3 Bosma arhinia microphthalmia syndrome Cryptorchidism 1 1 SMCHD1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Bulimia Intermittent explosive disorder 1 0 COMT (1) 0.04762 1.00000 1.299e-3 2.060e-3 181 Congenital plasminogen activator inhibitor deficiency type 1 Retinopathy of prematurity 1 1 SERPINE1 (4) 0.04762 1.00000 1.299e-3 2.060e-3 Catecholaminergic polymorphic ventricular tachycardia Congenital-onset steinert myotonic dystrophy 1 1 DMPK (2) 0.04762 1.00000 1.299e-3 2.060e-3 Antiphospholipid syndrome Corpus callosum agenesis with facial anomalies and cerebellar ataxia 1 1 FRMD4A (3) 0.04762 1.00000 1.299e-3 2.060e-3 Congenital diaphragmatic hernia Craniofacial deafness hand syndrome 1 1 PAX3 (6) 0.04762 1.00000 1.299e-3 2.060e-3 craniosynostosis 6 Dandy-walker syndrome 1 1 ZIC1 (3) 0.04762 1.00000 1.299e-3 2.060e-3 Congenital diaphragmatic hernia Cryptophthalmia 1 1 FREM2 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Cryptophthalmia Fraser syndrome 1 1 FREM2 (6) 0.04762 1.00000 1.299e-3 2.060e-3 16q24.3 microdeletion syndrome Cryptorchidism 1 1 ANKRD11 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Congenital diaphragmatic hernia Cryptotria 1 0 FREM2 (1) 0.04762 1.00000 1.299e-3 2.060e-3 Cryptotria Fraser syndrome 1 1 FREM2 (6) 0.04762 1.00000 1.299e-3 2.060e-3 Catecholaminergic polymorphic ventricular tachycardia dilated cardiomyopathy 1BB 1 1 DSG2 (2) 0.04762 1.00000 1.299e-3 2.060e-3 3 Catecholaminergic polymorphic ventricular tachycardia dilated cardiomyopathy 1JJ 1 1 LAMA4 (2) 0.04762 1.00000 1.299e-3 2.060e-3 3 Cryptorchidism Disorder of sex development 1 1 RXFP2 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Distal anoctaminopathy Visual disorder 1 1 ANO5 (2) 0.04762 1.00000 1.299e-3 2.060e-3 191 Cutis laxa Ehlers-Danlos syndrome, spondylocheirodysplastic type 1 1 SLC39A13 (2) 0.04762 1.00000 1.299e-3 2.060e-3 CBL-related disorder Cryptorchidism 1 1 CBL (3) 0.04762 1.00000 1.299e-3 2.060e-3 Childhood apraxia of speech Hoarding disorder 1 1 FOXP2 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Chromosome 15q24 deletion syndrome Congenital diaphragmatic hernia 1 1 SIN3A (3) 0.04762 1.00000 1.299e-3 2.060e-3 362 Chylothorax Situs inversus 1 0 PKD1L1 (1) 0.04762 1.00000 1.299e-3 2.060e-3 54 ciliary dyskinesia, primary, 40 Situs inversus 1 1 DNAH9 (3) 0.04762 1.00000 1.299e-3 2.060e-3 54 ciliary dyskinesia, primary, 44 Hoarding disorder 1 1 NEK10 (2) 0.04762 1.00000 1.299e-3 2.060e-3 279 Codas syndrome Congenital diaphragmatic hernia 1 1 LONP1 (6) 0.04762 1.00000 1.299e-3 2.060e-3 Common atrium Congenital diaphragmatic hernia 1 0 CDK8 (1) 0.04762 1.00000 1.299e-3 2.060e-3 Congenital cerebral hernia Dandy-walker syndrome 1 0 PIBF1 (1) 0.04762 1.00000 1.299e-3 2.060e-3 8 Arhinia-choanal atresia-microphthalmia syndrome Cryptorchidism 1 1 SMCHD1 (3) 0.04762 1.00000 1.299e-3 2.060e-3 Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome Visual disorder 1 1 ANO5 (2) 0.04762 1.00000 1.299e-3 2.060e-3 191 Atypical fanconi syndrome Intrahepatic cholestasis of pregnancy 1 1 HNF4A (3) 0.04762 1.00000 1.299e-3 2.060e-3 autosomal recessive cutis laxa type 2B Cutis laxa 1 1 PYCR1 (7) 0.04762 1.00000 1.299e-3 2.060e-3 94 autosomal recessive cutis laxa type 2C Cutis laxa 1 1 ATP6V1E1 (7) 0.04762 1.00000 1.299e-3 2.060e-3 94 12p12.1 microdeletion syndrome Hoarding disorder 1 1 SOX5 (3) 0.04762 1.00000 1.299e-3 2.060e-3 Acrocapitofemoral dysplasia Retinopathy of prematurity 1 1 IHH (2) 0.04762 1.00000 1.299e-3 2.060e-3 189 acute myeloid leukemia Hoarding disorder 1 1 CEBPA (2) 0.04762 1.00000 1.299e-3 2.060e-3 279 Acys amyloidosis Oral submucous fibrosis 1 1 CST3 (4) 0.04762 1.00000 1.299e-3 2.060e-3 Adult polyglucosan body disease Cutis laxa 1 1 GBE1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 AIPL1-related retinopathy Fraser syndrome 1 1 AIPL1 (2) 0.04762 1.00000 1.299e-3 2.060e-3 Alkuraya-kucinskas syndrome Dandy-walker syndrome 1 1 BLTP1 (3) 0.04762 1.00000 1.299e-3 2.060e-3 anterior segment dysgenesis 7 Visual disorder 1 1 PXDN (2) 0.04762 1.00000 1.299e-3 2.060e-3 aortic valve disease 3 Congenital diaphragmatic hernia 1 1 ROBO4 (2) 0.04762 1.00000 1.299e-3 2.060e-3 A4GALT-congenital disorder of glycosylation Burkitt lymphoma 1 1 A4GALT (2) 0.05000 1.00000 1.234e-3 1.983e-3 Alstrom syndrome Down syndrome 1 1 ALMS1 (3) 0.05000 1.00000 1.234e-3 1.983e-3 Alys amyloidosis Amyloidosis 1 1 LYZ (4) 0.05000 1.00000 1.234e-3 1.983e-3 128 amyotrophic lateral sclerosis type 22 Blepharoptosis 1 1 TUBA4A (2) 0.05000 1.00000 1.234e-3 1.983e-3 Antecubital pterygium syndrome Neuropathy 1 1 PSD3 (3) 0.05000 1.00000 1.234e-3 1.983e-3 22q11 deletion syndrome Digeorge syndrome 1 1 FGF8 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Digeorge syndrome Intermittent explosive disorder 1 1 COMT (2) 0.05000 1.00000 1.234e-3 1.983e-3 Chromosome 22q11.2 microduplication syndrome Digeorge syndrome 1 1 TBX1 (5) 0.05000 1.00000 1.234e-3 1.983e-3 Blepharoptosis Dominant hereditary optic atrophy 1 0 OPA1 (1) 0.05000 1.00000 1.234e-3 1.983e-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 1.983e-3 EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition Polycythemia 1 1 EGLN1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Amyloidosis Congenital plasminogen activator inhibitor deficiency type 1 1 1 SERPINE1 (4) 0.05000 1.00000 1.234e-3 1.983e-3 Cortical dysplasia-focal epilepsy syndrome Specific language disorder 1 1 CNTNAP2 (4) 0.05000 1.00000 1.234e-3 1.983e-3 272 Deafness and myopia Marshall syndrome 1 1 SLITRK6 (3) 0.05000 1.00000 1.234e-3 1.983e-3 ASAH1-related sphingolipidosis Lipidoses 1 1 ASAH1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 ASAH1-related sphingolipidosis Lipoidosis 1 1 ASAH1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 autosomal agammaglobulinemia B-lymphoblastic leukemia/lymphoma 1 1 TCF3 (2) 0.05000 1.00000 1.234e-3 1.983e-3 autosomal agammaglobulinemia Burkitt lymphoma 1 1 TCF3 (2) 0.05000 1.00000 1.234e-3 1.983e-3 184 autosomal dominant macrothrombocytopenia Blepharoptosis 1 1 TUBA4A (2) 0.05000 1.00000 1.234e-3 1.983e-3 B-lymphoblastic leukemia/lymphoma Barakat syndrome 1 1 GATA3 (3) 0.05000 1.00000 1.234e-3 1.983e-3 Childhood apraxia of speech Specific language disorder 1 1 FOXP2 (3) 0.05000 1.00000 1.234e-3 1.983e-3 ciliary dyskinesia, primary, 44 Pericarditis 1 1 NEK10 (2) 0.05000 1.00000 1.234e-3 1.983e-3 279 Cirrhosis dystonia polycythemia hypermanganesemia syndrome Polycythemia 1 1 SLC30A10 (3) 0.05000 1.00000 1.234e-3 1.983e-3 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Polycythemia 1 1 SLC30A10 (3) 0.05000 1.00000 1.234e-3 1.983e-3 Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Hyperparathyroidism 1 1 ACP5 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency Down syndrome 1 1 MTHFD1 (2) 0.05000 1.00000 1.234e-3 1.983e-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 1.983e-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 1.983e-3 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Lipidoses 1 1 ASNS (2) 0.05000 1.00000 1.234e-3 1.983e-3 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Lipoidosis 1 1 ASNS (2) 0.05000 1.00000 1.234e-3 1.983e-3 Hereditary sensory and autonomic neuropathy Retinopathy-sensory neuropathy syndrome 1 1 FLVCR1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Hereditary sensory and autonomic neuropathy Riley-day syndrome 1 1 ELP1 (3) 0.05000 1.00000 1.234e-3 1.983e-3 Marshall syndrome snowflake vitreoretinal degeneration 1 1 KCNJ13 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Marshall syndrome Stickler syndrome, type 4 1 1 COL9A1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 308 Aortic disease Myhre syndrome 1 1 SMAD4 (3) 0.05000 1.00000 1.234e-3 1.983e-3 Hereditary sensory and autonomic neuropathy neuropathy, hereditary sensory and autonomic, type 1A 1 1 SPTLC1 (7) 0.05000 1.00000 1.234e-3 1.983e-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 1.983e-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 1.983e-3 173 Hereditary sensory and autonomic neuropathy neuropathy, hereditary sensory, type 1D 1 1 ATL1 (7) 0.05000 1.00000 1.234e-3 1.983e-3 Hereditary sensory and autonomic neuropathy neuropathy, hereditary sensory, type 1F 1 1 ATL3 (7) 0.05000 1.00000 1.234e-3 1.983e-3 173 Blepharoptosis OPA1-related optic atrophy with or without extraocular features 1 1 OPA1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Hyperparathyroidism Osteolysis, hereditary, of carpal bones with or without nephropathy 1 1 MAFB (2) 0.05000 1.00000 1.234e-3 1.983e-3 B-lymphoblastic leukemia/lymphoma pancytopenia due to IKZF1 mutations 1 1 IKZF1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Papillon-lefevre syndrome Periodontal disease 1 1 CTSC (6) 0.05000 1.00000 1.234e-3 1.983e-3 Hereditary sensory and autonomic neuropathy Paraparesis 1 1 TECPR2 (4) 0.05000 1.00000 1.234e-3 1.983e-3 Hyperparathyroidism Parathyroid carcinoma 1 1 CDC73 (8) 0.05000 1.00000 1.234e-3 1.983e-3 Hyperparathyroidism Parathyroid neoplasm 1 1 CDC73 (8) 0.05000 1.00000 1.234e-3 1.983e-3 B-lymphoblastic leukemia/lymphoma PAX5-related B lymphopenia and autism spectrum disorder 1 1 PAX5 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Myosin storage myopathy Pericarditis 1 1 MYH7 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Biventricular noncompaction cardiomyopathy Pericarditis 1 0 MYH7 (1) 0.05000 1.00000 1.234e-3 1.983e-3 Carotid intima-media thickness Periodontal disease 1 1 PPARG (2) 0.05000 1.00000 1.234e-3 1.983e-3 Angiofollicular ganglionic hyperplasia Periodontal disease 1 0 IL6 (1) 0.05000 1.00000 1.234e-3 1.983e-3 Angiolymphoid hyperplasia Periodontal disease 1 0 IL6 (1) 0.05000 1.00000 1.234e-3 1.983e-3 Castleman disease Periodontal disease 1 1 IL6 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Down syndrome immunodeficiency 114, folate-responsive 1 1 SLC19A1 (3) 0.05000 1.00000 1.234e-3 1.983e-3 56 Inflammatory demyelinating polyneuropathy Neuropathy 1 0 CNBD1 (1) 0.05000 1.00000 1.234e-3 1.983e-3 152 inherited glutathione synthetase deficiency Mouth disease 1 1 GSS (3) 0.05000 1.00000 1.234e-3 1.983e-3 IRIDA syndrome Polycythemia 1 1 TMPRSS6 (2) 0.05000 1.00000 1.234e-3 1.983e-3 isovaleric acidemia Secondary malignant neoplasm 1 1 IVD (2) 0.05000 1.00000 1.234e-3 1.983e-3 237 Aortic disease juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 1 SMAD4 (2) 0.05000 1.00000 1.234e-3 1.983e-3 lethal occipital encephalocele-skeletal dysplasia syndrome Mouth disease 1 1 CYP26B1 (3) 0.05000 1.00000 1.234e-3 1.983e-3 B-lymphoblastic leukemia/lymphoma leukemia, acute lymphoblastic, susceptibility to, 3 1 1 PAX5 (2) 0.05000 1.00000 1.234e-3 1.983e-3 B-lymphoblastic leukemia/lymphoma leukemia, acute myeloid, susceptibility to 1 1 FLT3 (2) 0.05000 1.00000 1.234e-3 1.983e-3 45 Lipidoses Palmoplantar keratoderma and congenital alopecia 1 1 LSS (3) 0.05000 1.00000 1.234e-3 1.983e-3 Cataract-alopecia-sclerodactyly syndrome Lipidoses 1 1 LSS (2) 0.05000 1.00000 1.234e-3 1.983e-3 Carotid intima-media thickness Lipidoses 1 1 PPARG (2) 0.05000 1.00000 1.234e-3 1.983e-3 Lipoidosis Palmoplantar keratoderma and congenital alopecia 1 1 LSS (3) 0.05000 1.00000 1.234e-3 1.983e-3 Cataract-alopecia-sclerodactyly syndrome Lipoidosis 1 0 LSS (1) 0.05000 1.00000 1.234e-3 1.983e-3 Carotid intima-media thickness Lipoidosis 1 0 PPARG (1) 0.05000 1.00000 1.234e-3 1.983e-3 Lipidoses mednik syndrome 1 1 AP1S1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Lipoidosis mednik syndrome 1 1 AP1S1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Burkitt lymphoma Merkel cell carcinoma 1 1 MYC (4) 0.05000 1.00000 1.234e-3 1.983e-3 Hyperparathyroidism Micromelia 1 1 ALPL (2) 0.05000 1.00000 1.234e-3 1.983e-3 Carcinoma in situ Mouth disease 1 1 PTGS2 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Mouth disease Urinary bladder neck obstruction 1 1 PTGS2 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Mouth disease Tongue disorder 1 0 ESRRG (1) 0.05000 1.00000 1.234e-3 1.983e-3 Hyperparathyroidism multiple endocrine neoplasia type 1 1 1 MEN1 (6) 0.05000 1.00000 1.234e-3 1.983e-3 Hyperparathyroidism multiple endocrine neoplasia type 4 1 1 CDKN1B (2) 0.05000 1.00000 1.234e-3 1.983e-3 Marshall syndrome Wagner syndrome 1 1 VCAN (6) 0.05000 1.00000 1.234e-3 1.983e-3 Neuropathy Wilson disease 1 1 ATP7B (5) 0.05000 1.00000 1.234e-3 1.983e-3 familial meningioma Periodontal disease 1 1 SMARCE1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 fanconi anemia complementation group g Mouth disease 1 1 FANCG (3) 0.05000 1.00000 1.234e-3 1.983e-3 Farber disease Lipidoses 1 1 ASAH1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Farber disease Lipoidosis 1 1 ASAH1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 FLVCR1-related retinopathy with or without ataxia Hereditary sensory and autonomic neuropathy 1 1 FLVCR1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 focal segmental glomerulosclerosis 4, susceptibility to Hyperparathyroidism 1 1 APOL1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Hemoglobin high altitude adaptation Polycythemia 1 1 EGLN1 (4) 0.05000 1.00000 1.234e-3 1.983e-3 Hemoglobinopathy toms river Secondary malignant neoplasm 1 1 HBG2 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Hepatic lipase deficiency Pericarditis 1 1 LIPC (4) 0.05000 1.00000 1.234e-3 1.983e-3 Blepharoptosis hereditary peripheral neuropathy 1 1 IGHMBP2 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Hereditary sensory and autonomic neuropathy hereditary sensory and autonomic neuropathy type 4 1 1 NTRK1 (4) 0.05000 1.00000 1.234e-3 1.983e-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 1.983e-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 1.983e-3 173 Burkitt lymphoma hereditary thrombocytopenia and hematologic cancer predisposition syndrome 1 1 RUNX1 (2) 0.05000 1.00000 1.234e-3 1.983e-3 high myopia-sensorineural deafness syndrome Marshall syndrome 1 1 SLITRK6 (2) 0.05000 1.00000 1.234e-3 1.983e-3 holocarboxylase synthetase deficiency Specific language disorder 1 1 HLCS (2) 0.05000 1.00000 1.234e-3 1.983e-3 272 Hyperparathyroidism hyperparathyroidism 2 with jaw tumors 1 1 CDC73 (8) 0.05000 1.00000 1.234e-3 1.983e-3 B-lymphoblastic leukemia/lymphoma hypoparathyroidism-deafness-renal disease syndrome 1 1 GATA3 (2) 0.05000 1.00000 1.234e-3 1.983e-3 Hyperparathyroidism Hypophosphatasia 1 1 ALPL (5) 0.05000 1.00000 1.234e-3 1.983e-3 Junctional epidermolysis bullosa Salivary gland neoplasms 2 2 KRT5 (2), ITGB4 (6) 0.03279 0.11111 1.186e-3 1.921e-3 Cryoglobulinemia Hepatic fibrosis 1 1 IFNL3 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Hepatic fibrosis Intrahepatic bile duct cancer 1 1 IFNL3 (3) 0.11111 0.33333 1.169e-3 1.894e-3 Hepatic fibrosis Ovarian mucinous adenocarcinoma 1 1 IFNL3 (3) 0.11111 0.33333 1.169e-3 1.894e-3 Cadasil hereditary breast carcinoma 1 1 ATRIP (2) 0.11111 0.33333 1.169e-3 1.894e-3 Hypocalcemia Hypoparathyroidism 1 1 PTH (3) 0.11111 0.33333 1.169e-3 1.894e-3 Hypoparathyroidism Rickets 1 1 PTH (3) 0.11111 0.33333 1.169e-3 1.894e-3 Laryngeal disease Leukocyte disorders 1 1 PLG (3) 0.11111 0.33333 1.169e-3 1.894e-3 246 Laryngeal disease Vissers-bodmer syndrome 1 1 IPO8 (5) 0.11111 0.33333 1.169e-3 1.894e-3 Leukocyte adhesion deficiency Skin ulcer 1 1 ITGB2 (6) 0.11111 0.33333 1.169e-3 1.894e-3 142 Congenital malformation syndromes associated with short stature Male infertility testicular dysgenesis 1 0 SOS2 (1) 0.11111 0.33333 1.169e-3 1.894e-3 Carotid artery thrombosis Microvillus inclusion disease 1 1 STXBP2 (3) 0.11111 0.33333 1.169e-3 1.894e-3 Gitelman syndrome Pfaundler-hurler syndrome 1 0 IDUA (1) 0.11111 0.33333 1.169e-3 1.894e-3 Clubfoot Pfaundler-hurler syndrome 1 1 PITX1 (6) 0.11111 0.33333 1.169e-3 1.894e-3 Proximal spinal muscular atrophy Tay-sachs disease 1 0 SETX (1) 0.11111 0.33333 1.169e-3 1.894e-3 Congenital musculoskeletal anomalies Myelogenous leukemia 1 1 ABL1 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Non-syndromic cataract Sutural cataract 1 1 BFSP2 (3) 0.11111 0.33333 1.169e-3 1.894e-3 51 Embryonal nuclear cataract Non-syndromic cataract 1 1 CRYBB3 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Benign mucous membrane pemphigoid with ocular involvement Intrahepatic bile duct cancer 1 1 HLA-DQB1 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Bouillaud’s disease Intrahepatic bile duct cancer 1 1 HLA-DQB1 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Benign infantile epilepsy familial sleep-related hypermotor epilepsy 1 1 CHRNA2 (2) 0.11111 0.33333 1.169e-3 1.894e-3 familial sleep-related hypermotor epilepsy Focal onset epileptic seizure 1 1 CHRNB2 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Curling ulcer Three-vessel coronary artery disease 1 0 ABO (1) 0.11111 0.33333 1.169e-3 1.894e-3 De lange syndrome Trichorhinophalangeal syndrome 1 1 RAD21 (3) 0.11111 0.33333 1.169e-3 1.894e-3 Rickets Trifunctional protein deficiency 1 0 HADHB (1) 0.11111 0.33333 1.169e-3 1.894e-3 Deafness, aminoglycoside-induced Wolfram syndrome 1 0 ND1 (1) 0.11111 0.33333 1.169e-3 1.894e-3 Bone osteosarcoma Woolly hair 1 1 RB1 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Congenital hearing disorder Digenic alport syndrome 1 1 COL4A3 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Atrial standstill Ductus arteriosus, patent 1 1 NPPA (4) 0.11111 0.33333 1.169e-3 1.894e-3 C1q deficiency Exanthema 1 1 C1QA (5) 0.11111 0.33333 1.169e-3 1.894e-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 1.894e-3 183 46, xy disorder of sex development Disorders of sex development 1 1 LHCGR (2) 0.11111 0.33333 1.169e-3 1.894e-3 Angiokeratoma Cerebral cavernous malformation 1 1 KRIT1 (6) 0.11111 0.33333 1.169e-3 1.894e-3 249 Cerebrooculofacioskeletal syndrome Cholestasis 1 1 ERCC1 (5) 0.11111 0.33333 1.169e-3 1.894e-3 Cholestasis Cockayne syndrome 1 1 ERCC1 (2) 0.11111 0.33333 1.169e-3 1.894e-3 Congenital musculoskeletal anomalies Shprintzen-goldberg syndrome 1 1 SKI (6) 0.11111 0.33333 1.169e-3 1.894e-3 Congenital musculoskeletal anomalies Congenital respiratory system anomaly 1 0 TGFB2 (1) 0.11111 0.33333 1.169e-3 1.894e-3 Congenital musculoskeletal anomalies Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome 1 1 TMCO1 (4) 0.11111 0.33333 1.169e-3 1.894e-3 Congenital hypoplasia of lung De lange syndrome 1 1 NIPBL (3) 0.11111 0.33333 1.169e-3 1.894e-3 Autism, x-linked Bruxism 1 1 MECP2 (2) 0.11111 0.33333 1.169e-3 1.894e-3 55 Autism, x-linked Bulbar palsy 1 1 MECP2 (2) 0.11111 0.33333 1.169e-3 1.894e-3 55 Benign myoclonic epilepsy Early onset epilepsy with developmental delay 1 1 CNTN2 (4) 0.11111 0.33333 1.169e-3 1.894e-3 284 Asperger syndrome Post-operative myocardial infarction 1 0 FHIT (1) 0.09091 0.50000 1.169e-3 1.894e-3 Autoinflammatory disease, familial, behcet-like 3 Hepatic insufficiency 1 1 RELA (3) 0.09091 0.50000 1.169e-3 1.894e-3 80 Bombay phenotype Vitamin deficiency disorder 1 1 FUT2 (3) 0.09091 0.50000 1.169e-3 1.894e-3 100 Benign pemphigus Complex spastic paraplegia 1 1 ALDH18A1 (4) 0.09091 0.50000 1.169e-3 1.894e-3 Complex spastic paraplegia Darier disease 1 1 ALDH18A1 (4) 0.09091 0.50000 1.169e-3 1.894e-3 Cone-rod synaptic disorder Nocturnal frontal lobe epilepsy 1 1 CABP4 (4) 0.09091 0.50000 1.169e-3 1.894e-3 Congenital factor xiii deficiency Disseminated intravascular coagulation 1 1 F13A1 (3) 0.09091 0.50000 1.169e-3 1.894e-3 Cryohydrocytosis Distal renal tubular acidosis 1 1 SLC4A1 (7) 0.09091 0.50000 1.169e-3 1.894e-3 Donnai-barrow syndrome Intracellular cobalamin metabolism disorder 1 1 LMBRD1 (2) 0.09091 0.50000 1.169e-3 1.894e-3 Corneal ulcer Ovarian hyperstimulation syndrome 1 1 SERPINF1 (2) 0.09091 0.50000 1.169e-3 1.894e-3 Benign pemphigus Demyelinating hereditary motor and sensory neuropathy 1 1 FBLN5 (3) 0.09091 0.50000 1.169e-3 1.894e-3 94 Darier disease Demyelinating hereditary motor and sensory neuropathy 1 1 FBLN5 (3) 0.09091 0.50000 1.169e-3 1.894e-3 94 22q11.2 deletion syndrome Dysphonia 1 1 COMT (2) 0.09091 0.50000 1.169e-3 1.894e-3 Anaplasia Maffucci syndrome 1 1 HIF1A (2) 0.09091 0.50000 1.169e-3 1.894e-3 Aortic atherosclerosis Diabetic polyneuropathy 1 0 NYAP2 (1) 0.09091 0.50000 1.169e-3 1.894e-3 Cebalid syndrome Small cell carcinoma 1 1 MTOR (2) 0.09091 0.50000 1.169e-3 1.894e-3 Chediak-higashi syndrome Optic neuropathy 1 1 LYST (7) 0.09091 0.50000 1.169e-3 1.894e-3 Cataract-microcornea syndrome Chromosome 1q21.1 deletion syndrome 1 1 GJA8 (6) 0.09091 0.50000 1.169e-3 1.894e-3 Small cell carcinoma Thoracic neoplasms 1 0 SMARCA4 (1) 0.09091 0.50000 1.169e-3 1.894e-3 Charge syndrome Uinary system neoplasms 1 1 WDR11 (2) 0.09091 0.50000 1.169e-3 1.894e-3 Congenital arteriovenous malformation Usher syndrome type 2 1 1 ADGRV1 (2) 0.09091 0.50000 1.169e-3 1.894e-3 Disseminated intravascular coagulation Water intoxication 1 1 OXT (2) 0.09091 0.50000 1.169e-3 1.894e-3 Tubulointerstitial kidney disease Xanthomatosis 1 1 ABCG5 (2) 0.09091 0.50000 1.169e-3 1.894e-3 Normal pressure hydrocephalus primary ciliary dyskinesia 1 1 CFAP43 (4) 0.09091 0.50000 1.169e-3 1.894e-3 Maffucci syndrome Sclerosteosis 1 1 LRP4 (7) 0.09091 0.50000 1.169e-3 1.894e-3 Spectrum and myeloid neoplasm risk Urogenital abnormalities 1 1 SAMD9 (3) 0.09091 0.50000 1.169e-3 1.894e-3 Imperforate anus Syndactyly of the toes 1 0 CUL9 (1) 0.09091 0.50000 1.169e-3 1.894e-3 Bone marrow failure syndromes Growth hormone insensitivity syndrome with immune dysregulation 1 1 ERCC6L2 (2) 0.09091 0.50000 1.169e-3 1.894e-3 Hypercapnia Small cell carcinoma 1 0 NPPA (1) 0.09091 0.50000 1.169e-3 1.894e-3 Imperforate anus Peripheral pulmonary artery stenosis 1 0 CUL9 (1) 0.09091 0.50000 1.169e-3 1.894e-3 Peritoneal disease Soft tissue neoplasms 1 0 ERBB4 (1) 0.09091 0.50000 1.169e-3 1.894e-3 312 Bone marrow failure syndromes Primary cutaneous anaplastic large cell lymphoma 1 1 NPM1 (3) 0.09091 0.50000 1.169e-3 1.894e-3 Chondrosarcoma Eosinophilic leukemia 1 1 PDGFRA (2) 0.09091 0.50000 1.169e-3 1.894e-3 Fabry disease Mitral valve disease 1 0 ACE (1) 0.09091 0.50000 1.169e-3 1.894e-3 60 Disseminated intravascular coagulation Factor xiii deficiency 1 1 F13A1 (6) 0.09091 0.50000 1.169e-3 1.894e-3 Fanconi-bickel syndrome Transient neonatal diabetes mellitus 1 1 SLC2A2 (5) 0.09091 0.50000 1.169e-3 1.894e-3 35 Follicular lymphoma Thromboangiitis obliterans 1 1 HLA-DRB1 (2) 0.09091 0.50000 1.169e-3 1.894e-3 254 Combined pituitary hormone deficiency Genetic panhypopituitarism 1 1 PROP1 (3) 0.09091 0.50000 1.169e-3 1.894e-3 Dysphonia Glucocorticoid deficiency 1 0 COMT (1) 0.09091 0.50000 1.169e-3 1.894e-3 Glucocorticoid deficiency Toe syndactyly-telecanthus-anogenital and renal malformations syndrome 1 1 STAR (2) 0.09091 0.50000 1.169e-3 1.894e-3 Glycoprotein ia deficiency Von willebrand disorder 1 0 ITGA2 (1) 0.09091 0.50000 1.169e-3 1.894e-3 Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema Granulomatous disease 1 1 G6PD (2) 0.09091 0.50000 1.169e-3 1.894e-3 12 Autoinflammatory disease, systemic, x-linked Granulomatous disease 1 1 G6PD (2) 0.09091 0.50000 1.169e-3 1.894e-3 12 Charge syndrome Intermittent hydrarthrosis 1 1 TNFRSF1A (2) 0.09091 0.50000 1.169e-3 1.894e-3 Cardiac conduction disease Keppen-lubinsky syndrome 1 1 MYH6 (2) 0.09091 0.50000 1.169e-3 1.894e-3 Developmental regression hypotonia, ataxia, and delayed development syndrome 1 1 EBF3 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Hemangiosarcoma immune dysregulation, autoimmunity, and autoinflammation 1 1 PLCG1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 4 Clinodactyly Intellectual developmental disorder cataracts myopathy 1 1 ZBTB20 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Chorea Intellectual developmental disorder seizures movement 1 1 PDE2A (4) 0.05263 1.00000 1.169e-3 1.894e-3 1 Developmental regression intellectual disability, autosomal dominant 42 1 1 GNB1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 424 Interstitial systitis Potassium deficiency 1 0 ADRB2 (1) 0.05263 1.00000 1.169e-3 1.894e-3 Gross motor development delay Iodide peroxidase deficiency 1 1 TPO (2) 0.05263 1.00000 1.169e-3 1.894e-3 keutel syndrome Spondyloepiphyseal dysplasia 1 1 MGP (2) 0.05263 1.00000 1.169e-3 1.894e-3 keutel syndrome Uremia 1 1 MGP (3) 0.05263 1.00000 1.169e-3 1.894e-3 Developmental regression krabbe disease 1 1 GALC (2) 0.05263 1.00000 1.169e-3 1.894e-3 Lafora body disease Potassium deficiency 1 1 PRDM8 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Dyslipidemias H syndrome 1 1 SLC29A3 (4) 0.05263 1.00000 1.169e-3 1.894e-3 Hearing loss with hypertrophic cardiomyopathy Junctional epidermolysis bullosa 1 0 MYO6 (1) 0.05263 1.00000 1.169e-3 1.894e-3 Developmental regression Hepatoencephalopathy due to combined oxidative phosphorylation defect 1 1 GFM1 (4) 0.05263 1.00000 1.169e-3 1.894e-3 424 Chorea hsd10 mitochondrial disease 1 1 HSD17B10 (2) 0.05263 1.00000 1.169e-3 1.894e-3 1 Dyslipidemias hypercholesterolemia, familial, 1 1 1 LDLR (3) 0.05263 1.00000 1.169e-3 1.894e-3 57 hypoinsulinemic hypoglycemia and body hemihypertrophy Lipodystrophy 1 1 AKT2 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Carcinogenesis hypoparathyroidism-deafness-renal disease syndrome 1 1 GATA3 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Aortic dissection multiple self-healing squamous epithelioma 1 1 TGFBR1 (3) 0.05263 1.00000 1.169e-3 1.894e-3 multiple self-healing squamous epithelioma Uremia 1 1 TGFBR1 (3) 0.05263 1.00000 1.169e-3 1.894e-3 MYH-6 related congenital heart defects Sick sinus syndrome 1 1 MYH6 (4) 0.05263 1.00000 1.169e-3 1.894e-3 MYPN-related myopathy Nemaline myopathy 1 1 MYPN (4) 0.05263 1.00000 1.169e-3 1.894e-3 nance-horan syndrome Nuclear cataract 1 1 NHS (3) 0.05263 1.00000 1.169e-3 1.894e-3 51 Anorexia Nasal obstruction 1 1 NPY (2) 0.05263 1.00000 1.169e-3 1.894e-3 Junctional epidermolysis bullosa Naxos disease 1 1 JUP (6) 0.05263 1.00000 1.169e-3 1.894e-3 Nemaline myopathy nemaline myopathy 10 1 1 LMOD3 (7) 0.05263 1.00000 1.169e-3 1.894e-3 162 Nemaline myopathy nemaline myopathy 5 1 1 TNNT1 (6) 0.05263 1.00000 1.169e-3 1.894e-3 Nemaline myopathy nemaline myopathy 6 1 1 KBTBD13 (7) 0.05263 1.00000 1.169e-3 1.894e-3 162 Nemaline myopathy nemaline myopathy 7 1 1 CFL2 (7) 0.05263 1.00000 1.169e-3 1.894e-3 162 Nemaline myopathy nemaline myopathy 8 1 1 KLHL40 (5) 0.05263 1.00000 1.169e-3 1.894e-3 162 Nemaline myopathy nemaline myopathy 9 1 1 KLHL41 (7) 0.05263 1.00000 1.169e-3 1.894e-3 162 Developmental regression neurodevelopmental disorder with hypotonia, epilepsy, and absent speech 1 1 UNC13A (2) 0.05263 1.00000 1.169e-3 1.894e-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 1.894e-3 110 Developmental regression neurodevelopmental disorder with speech delay, movement abnormalities, and seizures 1 1 UNC13A (2) 0.05263 1.00000 1.169e-3 1.894e-3 neuropathy, hereditary sensory, type 1D Potassium deficiency 1 1 ATL1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 116 Developmental regression NMNAT1-related retinopathy 1 1 NMNAT1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 NMNAT1-related retinopathy Spondyloepiphyseal dysplasia 1 1 NMNAT1 (5) 0.05263 1.00000 1.169e-3 1.894e-3 Hypoplastic left heart syndrome NOTCH1-related AOS spectrum disorder 1 1 NOTCH1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Lipodystrophy obsolete lethal restrictive dermopathy 1 1 ZMPSTE24 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Developmental regression obsolete Stüve-Wiedemann syndrome 1 1 LIFR (2) 0.05263 1.00000 1.169e-3 1.894e-3 OFD1-related ciliopathy Spondyloepiphyseal dysplasia 1 1 OFD1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Chorea optic atrophy 10 with or without ataxia, intellectual disability, and seizures 1 1 RTN4IP1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 1 Carcinogenesis Osteofibrous dysplasia 1 1 MET (5) 0.05263 1.00000 1.169e-3 1.894e-3 Junctional epidermolysis bullosa Laryngo-onycho-cutaneous syndrome 1 1 LAMA3 (7) 0.05263 1.00000 1.169e-3 1.894e-3 LIPE-related familial partial lipodystrophy Lipodystrophy 1 1 LIPE (3) 0.05263 1.00000 1.169e-3 1.894e-3 79 Diabetic nephropathy type 2 lissencephaly spectrum disorder with complex brainstem malformation 1 1 MACF1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Lipodystrophy mandibular hypoplasia-deafness-progeroid syndrome 1 1 POLD1 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Hemangiosarcoma Merkel cell carcinoma 1 0 MYC (1) 0.05263 1.00000 1.169e-3 1.894e-3 Gross motor development delay microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 1 COG4 (2) 0.05263 1.00000 1.169e-3 1.894e-3 microcephalic osteodysplastic primordial dwarfism type II Seckel syndrome 1 1 PCNT (4) 0.05263 1.00000 1.169e-3 1.894e-3 137 microcephaly with or without short stature Seckel syndrome 1 1 CEP152 (6) 0.05263 1.00000 1.169e-3 1.894e-3 137 Anorexia Minor epilepsy 1 1 NPY (2) 0.05263 1.00000 1.169e-3 1.894e-3 Developmental regression mucopolysaccharidosis type 3A 1 1 SGSH (2) 0.05263 1.00000 1.169e-3 1.894e-3 mucopolysaccharidosis type 4B Spondyloepiphyseal dysplasia 1 1 GLB1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Henoch schoenlein purpura Thiopurine immunosuppressant-induced pancreatitis 1 0 HLA-DQB3 (1) 0.05263 1.00000 1.169e-3 1.894e-3 1 Graves ophthalmopathy Thrombasthenia-thrombocytopenia 1 1 GFI1B (2) 0.05263 1.00000 1.169e-3 1.894e-3 Clinodactyly thrombocytopenia-absent radius syndrome 1 1 RBM8A (2) 0.05263 1.00000 1.169e-3 1.894e-3 197 Lipodystrophy Tight skin contracture syndrome 1 1 ZMPSTE24 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Anorexia TNF receptor 1-associated periodic fever syndrome 1 1 TNFRSF1A (3) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital hypoplasia of aortic arch Tooth disease 1 1 PKHD1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Periportal fibrosis Tooth disease 1 1 PKHD1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Temperature-sensitive oculocutaneous albinism Tooth disease 1 1 TYR (3) 0.05263 1.00000 1.169e-3 1.894e-3 Nemaline myopathy TPM3-related myopathy 1 1 TPM3 (5) 0.05263 1.00000 1.169e-3 1.894e-3 Potassium deficiency Trichomegaly 1 1 FGF5 (5) 0.05263 1.00000 1.169e-3 1.894e-3 Nuclear cataract Wolfram-like syndrome 1 1 WFS1 (8) 0.05263 1.00000 1.169e-3 1.894e-3 Gross motor development delay X-linked intellectual disability-cerebellar hypoplasia syndrome 1 1 OPHN1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Clinodactyly X-linked opitz syndrome 1 1 MID1 (4) 0.05263 1.00000 1.169e-3 1.894e-3 Semilobar holoprosencephaly Xq25 microduplication syndrome 1 1 STAG2 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital heart septal defect renpenning syndrome 1 1 PQBP1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 41 Amnesia Retrograde amnesia 1 1 PREP (2) 0.05263 1.00000 1.169e-3 1.894e-3 66 Hypoplastic left heart syndrome Right hypoplastic heart syndrome 1 0 TBX20 (1) 0.05263 1.00000 1.169e-3 1.894e-3 41 Right ventricle hypoplasia Uremia 1 1 BMP2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Clinodactyly Satb2 associated syndrome 1 1 SATB2 (3) 0.05263 1.00000 1.169e-3 1.894e-3 197 Gross motor development delay Saul-wilson syndrome 1 1 COG4 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Potassium deficiency Sebaceous gland neoplasms 1 1 LEF1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Seckel syndrome seckel syndrome 10 1 1 NSMCE2 (6) 0.05263 1.00000 1.169e-3 1.894e-3 137 Short stature spectrum Spondyloepiphyseal dysplasia 1 1 ACAN (7) 0.05263 1.00000 1.169e-3 1.894e-3 Sick sinus syndrome sick sinus syndrome 2, autosomal dominant 1 1 HCN4 (6) 0.05263 1.00000 1.169e-3 1.894e-3 3 Silverman-Handmaker type dyssegmental dysplasia Spondyloepiphyseal dysplasia 1 1 HSPG2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 SMAD6-related disease Thoracic aortic aneurysm 1 1 SMAD6 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia with congenital joint dislocations 1 1 CHST3 (6) 0.05263 1.00000 1.169e-3 1.894e-3 Spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia, kondo-fu type 1 1 MBTPS1 (5) 0.05263 1.00000 1.169e-3 1.894e-3 44 Lipodystrophy spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 1 1 PCYT1A (4) 0.05263 1.00000 1.169e-3 1.894e-3 79 cataract 50 with or without glaucoma syndromic complex neurodevelopmental disorder 1 0 TRPM3 (1) 0.05263 1.00000 1.169e-3 1.894e-3 122 Epidermolysa bullosa simplex and limb girdle muscular dystrophy Junctional epidermolysis bullosa 1 1 PLEC (4) 0.05263 1.00000 1.169e-3 1.894e-3 229 Epidermolysis bullosa simplex Junctional epidermolysis bullosa 1 1 KRT14 (2) 0.05263 1.00000 1.169e-3 1.894e-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 1.894e-3 Esophageal and gastric varices Potassium deficiency 1 1 SST (2) 0.05263 1.00000 1.169e-3 1.894e-3 Expressive language delay Gross motor development delay 1 0 KLF7 (1) 0.05263 1.00000 1.169e-3 1.894e-3 55 familial hyperaldosteronism type III Sick sinus syndrome 1 1 KCNJ5 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Familial partial lipodystrophy Lipodystrophy 1 1 CIDEC (6) 0.05263 1.00000 1.169e-3 1.894e-3 Familial telangiectasia cancer syndrome Seckel syndrome 1 1 ATR (6) 0.05263 1.00000 1.169e-3 1.894e-3 Carcinogenesis Gestational trophoblastic disease 1 0 POU5F1 (1) 0.05263 1.00000 1.169e-3 1.894e-3 45 Clinodactyly Glass syndrome 1 1 SATB2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 197 Glucocorticoid receptor deficiency/resistance Potassium deficiency 1 1 NR3C1 (5) 0.05263 1.00000 1.169e-3 1.894e-3 Graves ophthalmopathy gray platelet syndrome 1 1 NBEAL2 (7) 0.05263 1.00000 1.169e-3 1.894e-3 153 Nuclear cataract Other specified diabetes mellitus with unspecified complications 1 1 WFS1 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Carcinogenesis papillary renal cell carcinoma 1 1 MET (2) 0.05263 1.00000 1.169e-3 1.894e-3 Melas syndrome Periodic paralysis with later-onset distal motor neuropathy 1 0 ATP8 (1) 0.05263 1.00000 1.169e-3 1.894e-3 26 Peters plus syndrome Potassium deficiency 1 1 B3GLCT (2) 0.05263 1.00000 1.169e-3 1.894e-3 116 Corneal neovascularization peutz-jeghers syndrome 1 1 STK11 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Graves ophthalmopathy platelet-type bleeding disorder 17 1 1 GFI1B (2) 0.05263 1.00000 1.169e-3 1.894e-3 Graves ophthalmopathy platelet-type bleeding disorder 18 1 1 RASGRP2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Junctional epidermolysis bullosa PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 1 1 PLEC (4) 0.05263 1.00000 1.169e-3 1.894e-3 229 Lipodystrophy PLIN1-related familial partial lipodystrophy 1 1 PLIN1 (3) 0.05263 1.00000 1.169e-3 1.894e-3 79 Clinodactyly poirier-bienvenu neurodevelopmental syndrome 1 1 CSNK2B (2) 0.05263 1.00000 1.169e-3 1.894e-3 Lipodystrophy POLD1-related polyposis and colorectal cancer syndrome 1 1 POLD1 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Giant cell arteritis Primary immunodeficiency with defective natural killer cell cytotoxicity 1 1 FCGR3A (4) 0.05263 1.00000 1.169e-3 1.894e-3 primordial dwarfism-immunodeficiency-lipodystrophy syndrome Seckel syndrome 1 1 PRIM1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 137 Clinodactyly primrose syndrome 1 1 ZBTB20 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Clinodactyly progressive muscular dystrophy 1 1 DMD (2) 0.05263 1.00000 1.169e-3 1.894e-3 Potassium deficiency Progressive myoclonic epilepsy with intracellular inclusions 1 1 PRDM8 (3) 0.05263 1.00000 1.169e-3 1.894e-3 progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia 1 1 CCN6 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Childhood-onset benign chorea with striatal involvement Tooth disease 1 1 PDE10A (3) 0.05263 1.00000 1.169e-3 1.894e-3 413 childhood-onset nemaline myopathy Nemaline myopathy 1 0 TNNI1 (1) 0.05263 1.00000 1.169e-3 1.894e-3 Chopra-amiel-gordon syndrome syndromic complex neurodevelopmental disorder 1 1 ANKRD17 (5) 0.05263 1.00000 1.169e-3 1.894e-3 122 Chorea Choreoacanthocytosis 1 1 VPS13A (5) 0.05263 1.00000 1.169e-3 1.894e-3 1 Chromosome 10q deletion syndrome Developmental regression 1 1 EBF3 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Chromosome xq25 duplication syndrome Semilobar holoprosencephaly 1 1 STAG2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 16q24.3 microdeletion syndrome Clinodactyly 1 1 ANKRD11 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Clinodactyly kbg syndrome 1 1 ANKRD11 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Clinodactyly coffin-lowry syndrome 1 1 RPS6KA3 (2) 0.05263 1.00000 1.169e-3 1.894e-3 197 COG4-congenital disorder of glycosylation Gross motor development delay 1 1 COG4 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Cognitive impairment with or without cerebellar ataxia Developmental regression 1 1 SCN8A (5) 0.05263 1.00000 1.169e-3 1.894e-3 424 Aortic dissection Congenital aphakia 1 0 FOXE3 (1) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital central hypothyroidism Corneal neovascularization 1 1 TRHR (2) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital corneal opacity syndromic complex neurodevelopmental disorder 1 1 ZFHX4 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital generalized hypercontractile muscle stiffness syndrome Nemaline myopathy 1 1 TPM3 (4) 0.05263 1.00000 1.169e-3 1.894e-3 asphyxiating thoracic dystrophy 3 Clinodactyly 1 1 DYNC2H1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Atrial tachyarrhythmia, infra-hisian cardiac conduction disease Bronchial disease 1 1 TNNI3K (2) 0.05263 1.00000 1.169e-3 1.894e-3 3 Anorexia Atypical absence epilepsy 1 1 NPY (2) 0.05263 1.00000 1.169e-3 1.894e-3 Atypical teratoid rhabdoid tumor Hematologic disease 1 1 SMARCB1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Autoinflammation with arthritis and dyskeratosis Corneal neovascularization 1 1 NLRP1 (5) 0.05263 1.00000 1.169e-3 1.894e-3 autosomal recessive osteopetrosis 1 Dyslipidemias 1 1 TCIRG1 (4) 0.05263 1.00000 1.169e-3 1.894e-3 B3GALT6-congenital disorder of glycosylation Spondyloepiphyseal dysplasia 1 1 B3GALT6 (2) 0.05263 1.00000 1.169e-3 1.894e-3 44 Barakat syndrome Carcinogenesis 1 1 GATA3 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Benign congenital myopathy Clinodactyly 1 0 DMD (1) 0.05263 1.00000 1.169e-3 1.894e-3 Bifid nail Spondyloepiphyseal dysplasia 1 0 OFD1 (1) 0.05263 1.00000 1.169e-3 1.894e-3 Bleeding esophageal varices Potassium deficiency 1 0 SST (1) 0.05263 1.00000 1.169e-3 1.894e-3 Bohring-opitz syndrome Gross motor development delay 1 1 ASXL1 (6) 0.05263 1.00000 1.169e-3 1.894e-3 Bronchial disease Vici syndrome 1 1 EPG5 (5) 0.05263 1.00000 1.169e-3 1.894e-3 3 Bronchial disease Woolly hair-palmoplantar keratoderma syndrome 1 1 KANK2 (4) 0.05263 1.00000 1.169e-3 1.894e-3 20p12.3 microdeletion syndrome Uremia 1 1 BMP2 (3) 0.05263 1.00000 1.169e-3 1.894e-3 AFG3L2-related optic atrophy and/or spastic ataxia spectrum Chorea 1 1 AFG3L2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 AKT2-related familial partial lipodystrophy Lipodystrophy 1 1 AKT2 (3) 0.05263 1.00000 1.169e-3 1.894e-3 Amish nemaline myopathy Nemaline myopathy 1 1 TNNT1 (7) 0.05263 1.00000 1.169e-3 1.894e-3 Anovulation Dyslipidemias 1 1 NR5A2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 57 Dermatopathia pigmentosa reticularis Junctional epidermolysis bullosa 1 1 KRT14 (6) 0.05263 1.00000 1.169e-3 1.894e-3 Developmental delay with ataxia, hypotonia, and facial dysmorphism Developmental regression 1 1 EBF3 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Developmental regression IFIH1-related type 1 interferonopathy 1 1 IFIH1 (2) 0.05263 1.00000 1.169e-3 1.894e-3 dilated cardiomyopathy 1EE Sick sinus syndrome 1 1 MYH6 (4) 0.05263 1.00000 1.169e-3 1.894e-3 dilated cardiomyopathy 1KK Nemaline myopathy 1 1 MYPN (4) 0.05263 1.00000 1.169e-3 1.894e-3 Disorder of sex development Potassium deficiency 1 1 RXFP2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 116 Dna2-related mitochondrial dna deletion syndrome Seckel syndrome 1 1 DNA2 (4) 0.05263 1.00000 1.169e-3 1.894e-3 Dysbiosis Giant cell arteritis 1 1 TLR4 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Chorea Dyskinesia with orofacial involvement 1 1 ADCY5 (5) 0.05263 1.00000 1.169e-3 1.894e-3 Chorea Dyskinesia, familial, with facial myokymia 1 1 ADCY5 (2) 0.05263 1.00000 1.169e-3 1.894e-3 Dyskinesia, limb and orofacial, infantile-onset Tooth disease 1 1 PDE10A (4) 0.05263 1.00000 1.169e-3 1.894e-3 413 Dyslipidemias dysosteosclerosis 1 1 TCIRG1 (4) 0.05263 1.00000 1.169e-3 1.894e-3 Clinodactyly Dystrophinopathy 1 0 DMD (1) 0.05263 1.00000 1.169e-3 1.894e-3 Chorea Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome 1 1 AFG3L2 (2) 0.05263 1.00000 1.169e-3 1.894e-3 congenital myasthenic syndrome 9 Gross motor development delay 1 1 MUSK (2) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Junctional epidermolysis bullosa 1 1 ITGA3 (7) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital phimosis Junctional epidermolysis bullosa 1 1 ITGA3 (7) 0.05263 1.00000 1.169e-3 1.894e-3 Aortic dissection Congenital primary aphakia 1 1 FOXE3 (5) 0.05263 1.00000 1.169e-3 1.894e-3 Congenital primary lymphedema of gordon Hemangiosarcoma 1 1 VEGFC (3) 0.05263 1.00000 1.169e-3 1.894e-3 Coralliform cataract Nuclear cataract 1 1 CRYGD (3) 0.05263 1.00000 1.169e-3 1.894e-3 51 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Corneal neovascularization 1 1 NLRP1 (4) 0.05263 1.00000 1.169e-3 1.894e-3 Choroidal neovascularization Corneal neovascularization 1 1 VEGFA (2) 0.05263 1.00000 1.169e-3 1.894e-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 1.824e-3 23 Congenital myelofibrosis with anemia Congenital neutropenia 1 1 RBSN (3) 0.05556 1.00000 1.104e-3 1.824e-3 211 Congenital neutropenia Neutrophilic leukemia 1 1 CSF3R (2) 0.05556 1.00000 1.104e-3 1.824e-3 211 Congenital neutropenia Neutropenia, nonimmune chronic idiopathic, adult 1 1 GFI1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 211 Craniofacial anomalies with anterior segment dysgenesis Eye abnormalities 1 1 VSX1 (5) 0.05556 1.00000 1.104e-3 1.824e-3 Cutaneous mastocytosis Hemoglobinopathy toms river 1 1 HBG2 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Congenital neutropenia Cyclic hematopoiesis 1 1 ELANE (2) 0.05556 1.00000 1.104e-3 1.824e-3 Deafness with congenital heart defects and posterior embryotoxon Eye abnormalities 1 1 JAG1 (4) 0.05556 1.00000 1.104e-3 1.824e-3 Dentin dysplasia Tricho-dento-osseous syndrome 1 1 DLX3 (6) 0.05556 1.00000 1.104e-3 1.824e-3 Dentin dysplasia Enamel-renal syndrome 1 1 FAM20A (2) 0.05556 1.00000 1.104e-3 1.824e-3 390 Arginase deficiency Asbestosis 1 1 ARG1 (5) 0.05556 1.00000 1.104e-3 1.824e-3 arthrogryposis multiplex congenita 3, myogenic type Atrioventricular block 1 1 SYNE1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Arthrogryposis with oculomotor limitation and retinal anomalies Larsen syndrome 1 1 PIEZO2 (4) 0.05556 1.00000 1.104e-3 1.824e-3 asphyxiating thoracic dystrophy 3 Micrognathism 1 1 DYNC2H1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Asbestosis ATF6-related retinopathy 1 1 ATF6 (3) 0.05556 1.00000 1.104e-3 1.824e-3 atypical hemolytic-uremic syndrome with B factor anomaly Complement component deficiency 1 1 CFB (6) 0.05556 1.00000 1.104e-3 1.824e-3 Atypical teratoid rhabdoid tumor Coffin-siris syndrome 1 1 SMARCB1 (6) 0.05556 1.00000 1.104e-3 1.824e-3 299 autosomal dominant osteopetrosis 2 Osteopetrosis 1 1 CLCN7 (7) 0.05556 1.00000 1.104e-3 1.824e-3 265 autosomal recessive osteopetrosis 1 Osteopetrosis 1 1 TCIRG1 (8) 0.05556 1.00000 1.104e-3 1.824e-3 autosomal recessive osteopetrosis 1 Congenital neutropenia 1 1 TCIRG1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 autosomal recessive osteopetrosis 2 Osteopetrosis 1 1 TNFSF11 (5) 0.05556 1.00000 1.104e-3 1.824e-3 autosomal recessive osteopetrosis 3 Osteopetrosis 1 1 CA2 (6) 0.05556 1.00000 1.104e-3 1.824e-3 autosomal recessive osteopetrosis 4 Osteopetrosis 1 1 CLCN7 (7) 0.05556 1.00000 1.104e-3 1.824e-3 265 autosomal recessive osteopetrosis 5 Osteopetrosis 1 1 OSTM1 (5) 0.05556 1.00000 1.104e-3 1.824e-3 265 autosomal recessive osteopetrosis 6 Osteopetrosis 1 1 PLEKHM1 (8) 0.05556 1.00000 1.104e-3 1.824e-3 autosomal recessive osteopetrosis 8 Osteopetrosis 1 1 SNX10 (5) 0.05556 1.00000 1.104e-3 1.824e-3 265 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Congenital neutropenia 1 1 G6PC3 (3) 0.05556 1.00000 1.104e-3 1.824e-3 B3GALT6-congenital disorder of glycosylation Larsen syndrome 1 1 B3GALT6 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Barakat syndrome Hodgkin disease 1 1 GATA3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Asbestosis Beriberi 1 1 SERPINA1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 236 Bilateral frontoparietal polymicrogyria Cortical dysplasia with other brain malformations 1 1 ADGRG1 (5) 0.05556 1.00000 1.104e-3 1.824e-3 Charcot-Marie-Tooth disease type 4 Gaucher disease 1 1 PRX (2) 0.05556 1.00000 1.104e-3 1.824e-3 Chondrodysplasia chondrodysplasia with joint dislocations, gpapp type 1 1 BPNT2 (7) 0.05556 1.00000 1.104e-3 1.824e-3 305 Chromosome 1p32-p31 deletion syndrome Toxic nodular goiter 1 1 NFIA (2) 0.05556 1.00000 1.104e-3 1.824e-3 ciliopathy-IFT74 Congenital brain malformation 1 1 IFT74 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 ciliopathy-IFT74 Congenital hypoplasia of part of brain 1 1 IFT74 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 ciliopathy-IFT74 Microgyria 1 1 IFT74 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 coffin-lowry syndrome Coffin-siris syndrome 1 1 RPS6KA3 (6) 0.05556 1.00000 1.104e-3 1.824e-3 coffin-lowry syndrome Micrognathism 1 1 RPS6KA3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 197 Coffin-siris syndrome Small cell ovary carcinoma 1 1 SMARCA4 (5) 0.05556 1.00000 1.104e-3 1.824e-3 Bronchiectasis congenital disorder of glycosylation, type 2v 1 1 EDEM3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 70 Congenital hypoplasia of clavicle Micrognathism 1 0 LEMD2 (1) 0.05556 1.00000 1.104e-3 1.824e-3 Congenital hypotrichosis with juvenile macular dystrophy Hypotrichosis 1 1 CDH3 (3) 0.05556 1.00000 1.104e-3 1.824e-3 Atrioventricular block dilated cardiomyopathy 1HH 1 1 BAG3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 3 Atrioventricular block dilated cardiomyopathy 1I 1 1 DES (2) 0.05556 1.00000 1.104e-3 1.824e-3 3 Congenital neutropenia Dursun syndrome 1 1 G6PC3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 dysosteosclerosis Osteopetrosis 1 1 TCIRG1 (8) 0.05556 1.00000 1.104e-3 1.824e-3 Congenital neutropenia dysosteosclerosis 1 1 TCIRG1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 ectodermal dysplasia and immunodeficiency 2 Hodgkin disease 1 1 NFKBIA (2) 0.05556 1.00000 1.104e-3 1.824e-3 EEM syndrome Hypotrichosis 1 1 CDH3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Cutaneous mastocytosis EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition 1 1 EGLN1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 ehlers-danlos syndrome, spondylodysplastic type, 1 Larsen syndrome 1 1 B4GALT7 (2) 0.05556 1.00000 1.104e-3 1.824e-3 127 Chondrodysplasia Eiken skeletal dysplasia 1 1 PTH1R (6) 0.05556 1.00000 1.104e-3 1.824e-3 Blomstrand lethal chondrodysplasia Chondrodysplasia 1 1 PTH1R (6) 0.05556 1.00000 1.104e-3 1.824e-3 Bnar syndrome Eye abnormalities 1 1 FREM1 (5) 0.05556 1.00000 1.104e-3 1.824e-3 Boomerang dysplasia Larsen syndrome 1 1 FLNB (6) 0.05556 1.00000 1.104e-3 1.824e-3 Brachytelephalangic chondrodysplasia punctata Chondrodysplasia 1 1 ARSL (3) 0.05556 1.00000 1.104e-3 1.824e-3 Brachytelephalangic chondrodysplasia punctata Coffin-siris syndrome 1 1 ARSL (2) 0.05556 1.00000 1.104e-3 1.824e-3 Bullous diffuse cutaneous mastocytosis Cutaneous mastocytosis 1 1 KIT (3) 0.05556 1.00000 1.104e-3 1.824e-3 C9 deficiency Complement component deficiency 1 1 C9 (5) 0.05556 1.00000 1.104e-3 1.824e-3 Cardiac-urogenital syndrome Primary angle closure glaucoma 1 1 MYRF (6) 0.05556 1.00000 1.104e-3 1.824e-3 1p31p32 microdeletion syndrome Toxic nodular goiter 1 1 NFIA (3) 0.05556 1.00000 1.104e-3 1.824e-3 Acid sphingomyelinase deficiency Gaucher disease 1 1 SMPD1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 Alkuraya-kucinskas syndrome Micrognathism 1 1 BLTP1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 alkylglycerone-phosphate synthase deficiency Chondrodysplasia 1 1 AGPS (2) 0.05556 1.00000 1.104e-3 1.824e-3 305 Alopecia universalis Hypotrichosis 1 0 HR (1) 0.05556 1.00000 1.104e-3 1.824e-3 Alpha-1 antitrypsin deficiency Asbestosis 1 1 SERPINA1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 236 Angel-shaped phalangoepiphyseal dysplasia Chondrodysplasia 1 1 GDF5 (4) 0.05556 1.00000 1.104e-3 1.824e-3 Asbestosis Panniculitis 1 1 SERPINA1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 236 Osteopetrosis platelet-type bleeding disorder 18 1 1 RASGRP2 (3) 0.05556 1.00000 1.104e-3 1.824e-3 Micrognathism POLD1-related polyposis and colorectal cancer syndrome 1 1 POLD1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Developmental delay with autism spectrum disorder Primary angle closure glaucoma 1 1 HERC2 (4) 0.05556 1.00000 1.104e-3 1.824e-3 Primary angle closure glaucoma primary angle-closure glaucoma 1 1 SPATA13 (3) 0.05556 1.00000 1.104e-3 1.824e-3 23 amyotrophic lateral sclerosis type 1 Prion disease 1 1 SOD1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Prion disease 1 1 COL4A1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 33 Colpocephaly Prion disease 1 1 COL4A1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 33 Prion disease Retinal arterial tortuosity 1 1 COL4A1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 33 Bronchiectasis pseudohypoaldosteronism, type IB1, autosomal recessive 1 1 SCNN1A (7) 0.05556 1.00000 1.104e-3 1.824e-3 70 Cutaneous mastocytosis Telangiectasia macularis eruptiva perstans 1 1 KIT (3) 0.05556 1.00000 1.104e-3 1.824e-3 Cutaneous mastocytosis Testicular seminoma 1 1 KIT (3) 0.05556 1.00000 1.104e-3 1.824e-3 Asbestosis Thiamine deficiency 1 1 SERPINA1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 236 Asbestosis TPM4-related platelet disorder 1 1 TPM4 (3) 0.05556 1.00000 1.104e-3 1.824e-3 Cutaneous mastocytosis Urticaria pigmentosa 1 1 KIT (3) 0.05556 1.00000 1.104e-3 1.824e-3 Gaucher disease Visceral acid sphingomyelinase deficiency 1 1 SMPD1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Micrognathism Wormian bones-micrognathia-abnormal dentition-progeroid syndrome 1 1 LEMD2 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Chondrodysplasia X-linked dominant chondrodysplasia chassaing-lacombe type 1 1 HDAC6 (6) 0.05556 1.00000 1.104e-3 1.824e-3 305 Chondrodysplasia X-linked dominant chondrodysplasia punctata 1 1 EBP (6) 0.05556 1.00000 1.104e-3 1.824e-3 Hodgkin disease X-linked hyper-igm syndrome 1 1 CD40LG (2) 0.05556 1.00000 1.104e-3 1.824e-3 Gaucher disease Myoclonus-renal failure syndrome 1 1 SCARB2 (3) 0.05556 1.00000 1.104e-3 1.824e-3 Eye abnormalities myopathy caused by variation in CRPPA 1 1 CRPPA (3) 0.05556 1.00000 1.104e-3 1.824e-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 1.824e-3 nephrotic syndrome, type 19 Osteopetrosis 1 1 NUP160 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Osteopetrosis osteopetrosis, autosomal dominant 3 1 1 PLEKHM1 (8) 0.05556 1.00000 1.104e-3 1.824e-3 Hypotrichosis Palmoplantar keratoderma and congenital alopecia 1 1 LSS (5) 0.05556 1.00000 1.104e-3 1.824e-3 Congenital neutropenia immunodeficiency 76 1 1 FCHO1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 211 Hodgkin disease immunodeficiency 92 1 1 REL (2) 0.05556 1.00000 1.104e-3 1.824e-3 Cutaneous mastocytosis Intellectual developmental disorder growth seizures 1 1 ABCA2 (4) 0.05556 1.00000 1.104e-3 1.824e-3 237 Intellectual developmental disorder hypotonia spastic sleep Prion disease 1 1 ANK3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 33 Congenital brain malformation Intellectual developmental disorder microcephaly cerebellar 1 1 CASK (2) 0.05556 1.00000 1.104e-3 1.824e-3 Coffin-siris syndrome Intellectual developmental disorder microcephaly ocular 1 1 SOX11 (6) 0.05556 1.00000 1.104e-3 1.824e-3 Congenital brain malformation joubert syndrome 14 1 1 TMEM237 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 Congenital hypoplasia of part of brain joubert syndrome 14 1 1 TMEM237 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 joubert syndrome 14 Microgyria 1 1 TMEM237 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 Congenital brain malformation joubert syndrome 36 1 1 FAM149B1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 Congenital hypoplasia of part of brain joubert syndrome 36 1 1 FAM149B1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 joubert syndrome 36 Microgyria 1 1 FAM149B1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 124 hearing impairment and infertile male syndrome Male reproductive organ cancer 1 1 CDC14A (2) 0.05556 1.00000 1.104e-3 1.824e-3 170 Cutaneous mastocytosis Hemoglobin high altitude adaptation 1 1 EGLN1 (4) 0.05556 1.00000 1.104e-3 1.824e-3 Hengel maroofian schols syndrome Toxic nodular goiter 1 1 BCAS3 (4) 0.05556 1.00000 1.104e-3 1.824e-3 Eye abnormalities Hepatic ductular hypoplasia 1 1 JAG1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Complement component deficiency Hereditary c1 esterase inhibitor deficiency 1 1 SERPING1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 Atrioventricular block holt-oram syndrome 1 1 TBX5 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Hodgkin disease hypoparathyroidism-deafness-renal disease syndrome 1 1 GATA3 (2) 0.05556 1.00000 1.104e-3 1.824e-3 hypopigmentation, organomegaly, and delayed myelination and development Osteopetrosis 1 1 CLCN7 (7) 0.05556 1.00000 1.104e-3 1.824e-3 265 Male reproductive organ cancer Myotonia 1 0 SCN4A (1) 0.05556 1.00000 1.104e-3 1.824e-3 170 Male reproductive organ cancer Potassium-aggravated myotonia 1 1 SCN4A (2) 0.05556 1.00000 1.104e-3 1.824e-3 170 Male reproductive organ cancer SCN4A-related myopathy, autosomal recessive 1 1 SCN4A (2) 0.05556 1.00000 1.104e-3 1.824e-3 170 mandibular hypoplasia-deafness-progeroid syndrome Micrognathism 1 1 POLD1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Cutaneous mastocytosis Mast cell leukemia 1 1 KIT (3) 0.05556 1.00000 1.104e-3 1.824e-3 Chondrodysplasia mend syndrome 1 1 EBP (6) 0.05556 1.00000 1.104e-3 1.824e-3 Micrognathism Microstomia 1 0 LEMD2 (1) 0.05556 1.00000 1.104e-3 1.824e-3 Coffin-siris syndrome familial meningioma 1 1 SMARCE1 (7) 0.05556 1.00000 1.104e-3 1.824e-3 fibrodysplasia ossificans progressiva Primary angle closure glaucoma 1 1 ACVR1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 FLNB-associated autosomal dominant filamin related bone disorder Larsen syndrome 1 1 FLNB (7) 0.05556 1.00000 1.104e-3 1.824e-3 Eye abnormalities frank-ter haar syndrome 1 1 SH3PXD2B (2) 0.05556 1.00000 1.104e-3 1.824e-3 40 Gaucher disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 1 1 GBA1 (7) 0.05556 1.00000 1.104e-3 1.824e-3 114 Asbestosis Genetic lipodystrophy 1 0 EPHX1 (1) 0.05556 1.00000 1.104e-3 1.824e-3 geroderma osteodysplastica Larsen syndrome 1 1 GORAB (2) 0.05556 1.00000 1.104e-3 1.824e-3 Gingivitis Hodgkin disease 1 1 TNFRSF8 (2) 0.05556 1.00000 1.104e-3 1.824e-3 334 Glass syndrome Micrognathism 1 1 SATB2 (2) 0.05556 1.00000 1.104e-3 1.824e-3 197 Chondrodysplasia glyceronephosphate O-acyltransferase deficiency 1 1 GNPAT (2) 0.05556 1.00000 1.104e-3 1.824e-3 305 Gaucher disease pyruvate kinase deficiency of red cells 1 1 PKLR (2) 0.05556 1.00000 1.104e-3 1.824e-3 Atrioventricular block Retractile testis 1 1 GNAI2 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Micrognathism Right aortic arch 1 0 BLTP1 (1) 0.05556 1.00000 1.104e-3 1.824e-3 Gaucher disease Riley-day syndrome 1 1 ELP1 (3) 0.05556 1.00000 1.104e-3 1.824e-3 Micrognathism Satb2 associated syndrome 1 1 SATB2 (3) 0.05556 1.00000 1.104e-3 1.824e-3 197 Congenital neutropenia SEC61A1 deficiency 1 1 SEC61A1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Cutaneous mastocytosis short-rib thoracic dysplasia 8 with or without polydactyly 1 1 DYNC2I1 (2) 0.05556 1.00000 1.104e-3 1.824e-3 Larsen syndrome skeletal dysplasia, mild, with joint laxity and advanced bone age 1 1 CSGALNACT1 (2) 0.05556 1.00000 1.104e-3 1.824e-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 1.824e-3 Larsen syndrome spondyloepiphyseal dysplasia with congenital joint dislocations 1 1 CHST3 (4) 0.05556 1.00000 1.104e-3 1.824e-3 Congenital diaphragmatic hernia Vesicoureteral reflux 2 1 ZFPM2 (2), NIPBL (1) 0.03509 0.10000 1.096e-3 1.824e-3 Cryptorchidism Vesicoureteral reflux 2 0 KAT6B (1), NIPBL (1) 0.03509 0.10000 1.096e-3 1.824e-3 Congenital left-sided heart lesions Spondylosis 2 0 DACH1 (1), SUMF1 (1) 0.03704 0.08000 1.071e-3 1.789e-3 Coffin-siris syndrome Salivary gland neoplasms 2 2 SOX4 (6), SOX11 (4) 0.03333 0.11765 1.056e-3 1.765e-3 Aortic disease Osteonecrosis 2 1 NTM (1), MMP2 (2) 0.03509 0.10526 1.040e-3 1.739e-3 Genetic peripheral neuropathy Salivary gland disease 1 1 ARHGEF10 (2) 0.12500 0.25000 1.039e-3 1.737e-3 Central nervous system disease Sengers syndrome 1 1 SOD2 (2) 0.12500 0.25000 1.039e-3 1.737e-3 Carney-stratakis syndrome Skeletal muscle disorder 1 1 SDHA (2) 0.12500 0.25000 1.039e-3 1.737e-3 78 Sengers syndrome Trichohepatoenteric syndrome 1 1 AGK (4) 0.12500 0.25000 1.039e-3 1.737e-3 276 Digenic hemochromatosis Variegate porphyria 1 1 HFE (2) 0.12500 0.25000 1.039e-3 1.737e-3 Coronary vasospasm Ventricular ectopy 1 0 NOS3 (1) 0.12500 0.25000 1.039e-3 1.737e-3 326 Smith-lemli-opitz syndrome Vertebral, cardiac, renal, and limb defects syndrome 1 1 NADSYN1 (4) 0.12500 0.25000 1.039e-3 1.737e-3 Carney-stratakis syndrome Von hippel-lindau syndrome 1 1 SDHB (5) 0.12500 0.25000 1.039e-3 1.737e-3 Anonychia Pachyonychia congenita 1 1 KRT17 (6) 0.12500 0.25000 1.039e-3 1.737e-3 164 Gastrointestinal neoplasms Hyperemesis gravidarum 1 1 GDF15 (3) 0.12500 0.25000 1.039e-3 1.737e-3 37 Discordant ventriculoarterial connection Knobloch syndrome 1 0 SLC19A1 (1) 0.12500 0.25000 1.039e-3 1.737e-3 Epilepsy with auditory features Focal epilepsy 1 1 DEPDC5 (3) 0.12500 0.25000 1.039e-3 1.737e-3 Focal epilepsy Lateral temporal lobe epilepsy 1 1 DEPDC5 (2) 0.12500 0.25000 1.039e-3 1.737e-3 Galactokinase deficiency Galactosemia 1 1 GALK1 (5) 0.12500 0.25000 1.039e-3 1.737e-3 Caroli disease Mainzer-saldino disease 1 0 WDR19 (1) 0.12500 0.25000 1.039e-3 1.737e-3 Micropenis Xanthinuria 1 0 SRD5A2 (1) 0.12500 0.25000 1.039e-3 1.737e-3 Aprosencephaly Homocystinuria with megaloblastic anemia 1 1 MTRR (3) 0.12500 0.25000 1.039e-3 1.737e-3 155 Aprosencephaly Neural tube defects, folate-sensitive 1 1 MTRR (2) 0.12500 0.25000 1.039e-3 1.737e-3 155 Central nervous system demyelinating disease Cerebral cortical atrophy 1 0 DARS2 (1) 0.12500 0.25000 1.039e-3 1.737e-3 Clear cell papillary renal cell carcinoma Waardenburg-shah syndrome 1 1 MITF (2) 0.12500 0.25000 1.039e-3 1.737e-3 Congenital secretory diarrhea Pregnancy disorder 1 1 SPINT2 (3) 0.12500 0.25000 1.039e-3 1.737e-3 Craniofrontonasal dysplasia Dysphoric mood 1 1 EFNB1 (7) 0.12500 0.25000 1.039e-3 1.737e-3 Auriculocondylar syndrome Overactive bladder 1 1 EDN1 (7) 0.12500 0.25000 1.039e-3 1.737e-3 Beta-mannosidosis Hypertyrosinemia 1 0 FAH (1) 0.12500 0.25000 1.039e-3 1.737e-3 199 Beta-mannosidosis Tyrosinemia 1 1 FAH (7) 0.12500 0.25000 1.039e-3 1.737e-3 199 Bone marrow diseases Ureteral calculi 1 1 GSTP1 (2) 0.12500 0.25000 1.039e-3 1.737e-3 Bowen’s disease Bundle branch block 1 1 PPARGC1A (2) 0.12500 0.25000 1.039e-3 1.737e-3 Bowen’s disease Cecal neoplasms 1 0 CCND1 (1) 0.12500 0.25000 1.039e-3 1.737e-3 81 Bowen’s disease Von hippel-lindau syndrome 1 1 CCND1 (5) 0.12500 0.25000 1.039e-3 1.737e-3 Bronchiolitis Central nervous system disease 1 1 IL17A (2) 0.12500 0.25000 1.039e-3 1.737e-3 163 Bronchiolitis Extrinsic allergic alveolitis 1 0 MUC5B (1) 0.12500 0.25000 1.039e-3 1.737e-3 163 Congenital chloride diarrhea Congenital secretory diarrhea 1 1 SLC26A3 (5) 0.12500 0.25000 1.039e-3 1.737e-3 275 Congenital fusion of ribs Dysphoric mood 1 0 DLL3 (1) 0.12500 0.25000 1.039e-3 1.737e-3 Congenital lactic acidosis Hereditary hemophagocytic lymphohistiocytosis 1 1 STXBP2 (2) 0.12500 0.25000 1.039e-3 1.737e-3 96 Accessory skin tag Complex spastic paraplegia 1 1 ALDH18A1 (4) 0.10000 0.50000 1.039e-3 1.737e-3 Congenital bilateral absence of vas deferens Hereditary chronic pancreatitis 1 1 CFTR (6) 0.10000 0.50000 1.039e-3 1.737e-3 Congenital cataract facial dysmorphism neuropathy syndrome Posterior polar cataract 1 1 GJA3 (2) 0.10000 0.50000 1.039e-3 1.737e-3 51 Continuous spike and wave during slow wave sleep syndrome Pyridoxine dependent epilepsy 1 0 GRIN2A (1) 0.10000 0.50000 1.039e-3 1.737e-3 389 Charcot-marie-tooth disease, x-linked Cowchock syndrome 1 1 AIFM1 (6) 0.10000 0.50000 1.039e-3 1.737e-3 Accessory skin tag Demyelinating hereditary motor and sensory neuropathy 1 1 FBLN5 (3) 0.10000 0.50000 1.039e-3 1.737e-3 94 Aicardi goutieres syndrome Deoxyguanosine kinase deficiency 1 1 SAMHD1 (3) 0.10000 0.50000 1.039e-3 1.737e-3 Adult myoclonic epilepsy Cri-du-chat syndrome 1 1 CTNND2 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Amed syndrome Occupational dermatitis 1 1 ALDH2 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Amelocerebrohypohidrotic syndrome Pyridoxine dependent epilepsy 1 1 SLC13A5 (3) 0.10000 0.50000 1.039e-3 1.737e-3 389 Chediak-higashi syndrome Facial nerve disorder 1 0 SMCHD1 (1) 0.10000 0.50000 1.039e-3 1.737e-3 B-cell chronic lymphocytic leukemia Childhood hypophosphatasia 1 1 P2RX7 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Chorioretinal atrophy Prader-willi syndrome 1 0 - (1) 0.10000 0.50000 1.039e-3 1.737e-3 Body mass index Diastolic heart failure 1 1 FTO (3) 0.10000 0.50000 1.039e-3 1.737e-3 Breast fibrocystic disease Visual impairment 1 0 CSMD1 (1) 0.10000 0.50000 1.039e-3 1.737e-3 152 Canavan disease Infertility 1 1 SPATA22 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Cataract-glaucoma syndrome Posterior polar cataract 1 1 PITX3 (4) 0.10000 0.50000 1.039e-3 1.737e-3 Becker generalized myotonia Metachromatic leukodystrophy 1 0 CLCN1 (1) 0.10000 0.50000 1.039e-3 1.737e-3 Congenital hand deformities Dermatosparaxis ehlers-danlos syndrome 1 1 ADAMTSL2 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Digestive system neoplasms Genitourinary disease 1 0 ARHGAP24 (1) 0.10000 0.50000 1.039e-3 1.737e-3 Discoid lupus erythematosus Urologic neoplasms 1 1 OGG1 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Dna repair-deficiency disorders Pyridoxine dependent epilepsy 1 1 PNKP (2) 0.10000 0.50000 1.039e-3 1.737e-3 Autoimmune pancreatitis Duodenitis 1 1 HLA-DQB1 (2) 0.10000 0.50000 1.039e-3 1.737e-3 1 Duodenitis Tongue cancer 1 0 HLA-DQB1 (1) 0.10000 0.50000 1.039e-3 1.737e-3 1 hereditary nonpolyposis colon cancer Lig4 syndrome 1 1 XRCC4 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Autoimmune pancreatitis Liver cancer 1 1 HLA-DQB1 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Liver cancer Tongue cancer 1 0 HLA-DQB1 (1) 0.10000 0.50000 1.039e-3 1.737e-3 Frontotemporal dementia with motor neuron disease Masp2 deficiency 1 1 TARDBP (3) 0.10000 0.50000 1.039e-3 1.737e-3 Digestive system neoplasms Growth hormone insensitivity, partial 1 1 GHSR (3) 0.10000 0.50000 1.039e-3 1.737e-3 Benign hypercalcemia Hereditary chronic pancreatitis 1 1 CASR (2) 0.10000 0.50000 1.039e-3 1.737e-3 210 Hyper-immunoglobulin syndrome Pemphigus 1 0 CD40 (1) 0.10000 0.50000 1.039e-3 1.737e-3 hereditary nonpolyposis colon cancer Thoracic neoplasms 1 1 SMARCA4 (2) 0.10000 0.50000 1.039e-3 1.737e-3 261 Congenital nystagmus Usher syndrome type 1 1 1 MYO7A (2) 0.10000 0.50000 1.039e-3 1.737e-3 Congenital sensorineural hearing loss Usher syndrome type 2 1 1 USH2A (2) 0.10000 0.50000 1.039e-3 1.737e-3 Pemphigus Vaginal neoplasms 1 1 IL2 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Frontotemporal dementia with motor neuron disease Welander distal myopathy 1 1 SQSTM1 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Wilson-turner syndrome X-linked syndromic intellectual disability 1 1 LAS1L (4) 0.10000 0.50000 1.039e-3 1.737e-3 Charcot-marie-tooth disease, x-linked X-linked progressive cerebellar ataxia 1 1 GJB1 (8) 0.10000 0.50000 1.039e-3 1.737e-3 Penile hypospadia Yunis-varon syndrome 1 1 FIG4 (5) 0.10000 0.50000 1.039e-3 1.737e-3 Omodysplasia Robinow syndrome 1 1 FZD2 (5) 0.10000 0.50000 1.039e-3 1.737e-3 Niemann-pick disease Ophthalmoplegia 1 1 NPC1 (8) 0.10000 0.50000 1.039e-3 1.737e-3 231 Hereditary chronic pancreatitis Pancreatic trypsinogen deficiency 1 1 PRSS1 (3) 0.10000 0.50000 1.039e-3 1.737e-3 Peeling skin syndrome with leukonychia and acral punctate keratoses Pemphigus 1 1 CAST (6) 0.10000 0.50000 1.039e-3 1.737e-3 1 Post-operative myocardial infarction Urologic neoplasms 1 1 FHIT (2) 0.10000 0.50000 1.039e-3 1.737e-3 Acroosteolysis Primary familial brain calcification 1 1 PDGFRB (3) 0.10000 0.50000 1.039e-3 1.737e-3 Benign neonatal-infantile seizures Episodic ataxia 1 1 SCN2A (5) 0.10000 0.50000 1.039e-3 1.737e-3 Genetic recurrent myoglobinuria Rhabdomyolysis 1 1 OBSCN (3) 0.10000 0.50000 1.039e-3 1.737e-3 Digestive system neoplasms Genetic recurrent myoglobinuria 1 1 LPIN1 (2) 0.10000 0.50000 1.039e-3 1.737e-3 hereditary nonpolyposis colon cancer Interstitial nephritis 1 1 FAN1 (4) 0.10000 0.50000 1.039e-3 1.737e-3 Hereditary chronic pancreatitis Intestinal hypomagnesemia 1 1 TRPV6 (2) 0.10000 0.50000 1.039e-3 1.737e-3 Ichthyosis Ichthyosis vulgaris 1 1 FLG (2) 0.05882 1.00000 1.039e-3 1.737e-3 Hydrops fetalis immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1 1 FOXP3 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Ichthyosis immunodeficiency 63 with lymphoproliferation and autoimmunity 1 1 IL2RB (2) 0.05882 1.00000 1.039e-3 1.737e-3 IMPDH1-related retinopathy Thyroiditis 1 1 IMPDH1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 1 Intellectual developmental disorder seizures cerebellar Seasonal affective disorder 1 1 RORA (3) 0.05882 1.00000 1.039e-3 1.737e-3 Dental enamel hypoplasia Intellectual developmental disorder with retinitis pigmentosa 1 1 SCAPER (5) 0.05882 1.00000 1.039e-3 1.737e-3 Intermittent explosive disorder Pheochromocytoma 1 1 COMT (2) 0.05882 1.00000 1.039e-3 1.737e-3 interstitial lung disease due to ABCA3 deficiency Loeys-dietz syndrome 1 1 ABCA3 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Loeys-dietz syndrome multiple self-healing squamous epithelioma 1 1 TGFBR1 (6) 0.05882 1.00000 1.039e-3 1.737e-3 muscular dystrophy-dystroglycanopathy Walker-warburg syndrome 1 1 LARGE1 (4) 0.05882 1.00000 1.039e-3 1.737e-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 1.737e-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 1.737e-3 40 Hydrops fetalis myasthenic syndrome, congenital, 1b, fast-channel 1 1 CHRNA1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 myopathy caused by variation in CRPPA Walker-warburg syndrome 1 1 CRPPA (4) 0.05882 1.00000 1.039e-3 1.737e-3 40 myopathy caused by variation in FKRP Walker-warburg syndrome 1 1 FKRP (4) 0.05882 1.00000 1.039e-3 1.737e-3 40 myopathy caused by variation in FKTN Walker-warburg syndrome 1 1 FKTN (4) 0.05882 1.00000 1.039e-3 1.737e-3 40 myopathy caused by variation in GMPPB Walker-warburg syndrome 1 1 GMPPB (3) 0.05882 1.00000 1.039e-3 1.737e-3 40 myopathy caused by variation in POMGNT1 Walker-warburg syndrome 1 1 POMGNT1 (4) 0.05882 1.00000 1.039e-3 1.737e-3 40 myopathy caused by variation in POMGNT2 Walker-warburg syndrome 1 1 POMGNT2 (4) 0.05882 1.00000 1.039e-3 1.737e-3 40 myopathy caused by variation in POMT1 Walker-warburg syndrome 1 1 POMT1 (4) 0.05882 1.00000 1.039e-3 1.737e-3 40 myopathy caused by variation in POMT2 Walker-warburg syndrome 1 1 POMT2 (4) 0.05882 1.00000 1.039e-3 1.737e-3 40 Nasal obstruction Seasonal affective disorder 1 1 NPY (2) 0.05882 1.00000 1.039e-3 1.737e-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 1.737e-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 1.737e-3 40 norrie disease Primary aldosteronism 1 1 NDP (2) 0.05882 1.00000 1.039e-3 1.737e-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 1.737e-3 Distal arthrogryposis Osteofibrous dysplasia 1 1 MET (6) 0.05882 1.00000 1.039e-3 1.737e-3 Lymphedema Osteofibrous dysplasia 1 1 MET (5) 0.05882 1.00000 1.039e-3 1.737e-3 Growth hormone deficiency with pituitary anomalies Male infertility spermatogenesis disorder 1 0 HESX1 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Distal arthrogryposis Hecht syndrome 1 1 MYH8 (4) 0.05882 1.00000 1.039e-3 1.737e-3 Hemophilia a Hemophilia a carriers 1 1 F8 (6) 0.05882 1.00000 1.039e-3 1.737e-3 Hemophilia a Hemophilia b carriers 1 1 F9 (3) 0.05882 1.00000 1.039e-3 1.737e-3 hypogonadotropic hypogonadism 3 with or without anosmia Male infertility spermatogenesis disorder 1 1 PROKR2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 hypogonadotropic hypogonadism 4 with or without anosmia Male infertility spermatogenesis disorder 1 1 PROK2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 hypomyelinating leukodystrophy 2 Lymphedema 1 1 GJC2 (3) 0.05882 1.00000 1.039e-3 1.737e-3 legius syndrome Male infertility spermatogenesis disorder 1 1 SPRED1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Dental enamel hypoplasia loeys-dietz syndrome 6 1 1 SMAD2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Loeys-dietz syndrome loeys-dietz syndrome 6 1 1 SMAD2 (7) 0.05882 1.00000 1.039e-3 1.737e-3 50 lymphatic malformation 1 Lymphedema 1 1 FLT4 (3) 0.05882 1.00000 1.039e-3 1.737e-3 Male infertility motility disorder Male infertility spermatogenesis disorder 1 0 CCDC146 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Breast neoplasms meier-gorlin syndrome 4 1 1 CDT1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Lymphedema microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 1 KIF11 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital total cataract Microstomia 1 0 LEMD2 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital anomaly of limb Middle lobe syndrome 1 1 SALL1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Middle lobe syndrome Vacterl association 1 0 SALL1 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Minor epilepsy Seasonal affective disorder 1 0 NPY (1) 0.05882 1.00000 1.039e-3 1.737e-3 Mitochondrial encephalocardiomyopathy Mitochondrial encephalomyopathy 1 1 TMEM70 (2) 0.05882 1.00000 1.039e-3 1.737e-3 62 Childhood myocerebrohepatopathy spectrum Mitochondrial encephalomyopathy 1 0 POLG (1) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital anomaly of limb radioulnar synostosis with amegakaryocytic thrombocytopenia 1 1 1 HOXA11 (3) 0.05882 1.00000 1.039e-3 1.737e-3 Loeys-dietz syndrome Rienhoff syndrome 1 1 TGFB3 (6) 0.05882 1.00000 1.039e-3 1.737e-3 Patent ductus arteriosus Right ventricle hypoplasia 1 1 BMP2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Loeys-dietz syndrome Rupture, spontaneous 1 1 COL5A1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Seasonal affective disorder Separation anxiety disorder 1 0 DRD4 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Primary aldosteronism sinoatrial node dysfunction and deafness 1 1 CACNA1D (3) 0.05882 1.00000 1.039e-3 1.737e-3 116 Loeys-dietz syndrome SMAD6-related disease 1 1 SMAD6 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Male infertility spermatogenesis disorder spermatogenic failure 38 1 1 ARMC2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 11 Male infertility spermatogenesis disorder spermatogenic failure 39 1 1 DNAH17 (2) 0.05882 1.00000 1.039e-3 1.737e-3 11 Male infertility spermatogenesis disorder spermatogenic failure 5 1 1 AURKC (2) 0.05882 1.00000 1.039e-3 1.737e-3 11 Body weight TFAP2B-related congenital heart disease spectrum disorder 1 1 TFAP2B (2) 0.05882 1.00000 1.039e-3 1.737e-3 Patent ductus arteriosus TFAP2B-related congenital heart disease spectrum disorder 1 1 TFAP2B (5) 0.05882 1.00000 1.039e-3 1.737e-3 Hemophilia a thrombophilia, X-linked, due to factor 9 defect 1 1 F9 (3) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital anomaly of limb Timothy syndrome 1 1 CACNA1C (6) 0.05882 1.00000 1.039e-3 1.737e-3 Dentinogenesis imperfecta Tricho-dento-osseous syndrome 1 1 DLX3 (6) 0.05882 1.00000 1.039e-3 1.737e-3 Distal arthrogryposis Trismus-pseudocamptodactyly syndrome 1 1 MYH8 (4) 0.05882 1.00000 1.039e-3 1.737e-3 Catalepsy Tyrosine hydroxylase deficiency 1 1 TH (4) 0.05882 1.00000 1.039e-3 1.737e-3 Pheochromocytoma Tyrosine hydroxylase deficiency 1 1 TH (3) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital anomaly of limb Ulnar-mammary syndrome 1 1 TBX3 (6) 0.05882 1.00000 1.039e-3 1.737e-3 Vacterl association Vacterl-hydrocephalus syndrome 1 1 FANCB (6) 0.05882 1.00000 1.039e-3 1.737e-3 Vacterl association Waardenburg anophthalmia syndrome 1 0 SMOC1 (1) 0.05882 1.00000 1.039e-3 1.737e-3 195 Congenital total cataract Wormian bones-micrognathia-abnormal dentition-progeroid syndrome 1 1 LEMD2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Rett syndrome X-linked retinoschisis 1 1 RS1 (4) 0.05882 1.00000 1.039e-3 1.737e-3 Hydrops fetalis Yellow nail syndrome 1 1 CELSR1 (3) 0.05882 1.00000 1.039e-3 1.737e-3 Walker-warburg syndrome Yellow nail syndrome 1 1 CELSR1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 FANCM Fanconi-like genomic instability disorder Male infertility spermatogenesis disorder 1 1 FANCM (2) 0.05882 1.00000 1.039e-3 1.737e-3 fanconi anemia complementation group b Vacterl association 1 1 FANCB (7) 0.05882 1.00000 1.039e-3 1.737e-3 fanconi anemia complementation group l Vacterl association 1 1 FANCL (2) 0.05882 1.00000 1.039e-3 1.737e-3 195 Fowler syndrome Hydrops fetalis 1 1 FLVCR2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 FOXG1 disorder Rett syndrome 1 1 FOXG1 (6) 0.05882 1.00000 1.039e-3 1.737e-3 Gliosarcoma P450 oxidoreductase deficiency 1 1 POR (2) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital total cataract Palmoplantar keratoderma and congenital alopecia 1 1 LSS (3) 0.05882 1.00000 1.039e-3 1.737e-3 Distal arthrogryposis papillary renal cell carcinoma 1 1 MET (5) 0.05882 1.00000 1.039e-3 1.737e-3 Lymphedema papillary renal cell carcinoma 1 1 MET (2) 0.05882 1.00000 1.039e-3 1.737e-3 Distal arthrogryposis Perching syndrome 1 1 KLHL7 (4) 0.05882 1.00000 1.039e-3 1.737e-3 Dental enamel hypoplasia Peripheral neuropathy myopathy hoarseness hearing loss syndrome 1 1 MYH14 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Dental enamel hypoplasia Peripheral neuropathy, myopathy, hoarseness, and hearing 1 1 MYH14 (5) 0.05882 1.00000 1.039e-3 1.737e-3 Peters plus syndrome Primary aldosteronism 1 1 B3GLCT (2) 0.05882 1.00000 1.039e-3 1.737e-3 116 Distal arthrogryposis peutz-jeghers syndrome 1 1 STK11 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Coronary stenosis PLD1-related congenital heart disease 1 1 PLD1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Pheochromocytoma Polydactyly-macrocephaly syndrome 1 1 MAX (5) 0.05882 1.00000 1.039e-3 1.737e-3 78 Primary aldosteronism Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 1 1 CACNA1D (3) 0.05882 1.00000 1.039e-3 1.737e-3 116 progressive pseudorheumatoid arthropathy of childhood Pulmonary edema 1 1 CCN6 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Dental enamel hypoplasia Proximal renal tubular acidosis 1 1 SLC4A4 (3) 0.05882 1.00000 1.039e-3 1.737e-3 Dental enamel hypoplasia pycnodysostosis 1 1 CTSK (2) 0.05882 1.00000 1.039e-3 1.737e-3 Pyoderma gangrenosum Vacterl association 1 1 PTPN6 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Developmental disorder Riddle syndrome 1 1 RNF168 (7) 0.05882 1.00000 1.039e-3 1.737e-3 Developmental disorder immunodeficiency, common variable, 10 1 1 NFKB2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Diffuse gastric adenocarcinoma severe combined immunodeficiency due to LAT deficiency 1 1 LAT (2) 0.05882 1.00000 1.039e-3 1.737e-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 1.737e-3 Disorder of sex development Primary aldosteronism 1 1 RXFP2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 116 Body weight dyskeratosis congenita, autosomal recessive 3 1 1 WRAP53 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Dyskinesia, limb and orofacial, infantile-onset Thyroiditis 1 1 PDE10A (4) 0.05882 1.00000 1.039e-3 1.737e-3 ectodermal dysplasia and immunodeficiency 2 Gliosarcoma 1 1 NFKBIA (2) 0.05882 1.00000 1.039e-3 1.737e-3 Dentinogenesis imperfecta Enamel-renal syndrome 1 1 FAM20A (2) 0.05882 1.00000 1.039e-3 1.737e-3 390 Encephaloclastic proliferative vasculopathy Hydrops fetalis 1 1 FLVCR2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 20p12.3 microdeletion syndrome Patent ductus arteriosus 1 1 BMP2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 22q11 deletion syndrome Microform holoprosencephaly 1 1 FGF8 (3) 0.05882 1.00000 1.039e-3 1.737e-3 110 Aldosterone-producing adenoma Primary aldosteronism 1 1 CACNA1D (2) 0.05882 1.00000 1.039e-3 1.737e-3 116 Alveolar capillary dysplasia Vacterl association 1 1 FOXF1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Anomalous pulmonary venous Patent ductus arteriosus 1 0 PSMC3 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Anterior cruciate ligament injury Catalepsy 1 1 CNR2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Anterior pituitary function deficiency with variable immunodeficiency Developmental disorder 1 1 NFKB2 (3) 0.05882 1.00000 1.039e-3 1.737e-3 Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency Congenital anomaly of limb 1 1 CHUK (3) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital alveolar capillary dysplasia Vacterl association 1 1 FOXF1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Distal arthrogryposis 1 1 NALCN (5) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital finger flexion contractures Distal arthrogryposis 1 1 TNNI2 (5) 0.05882 1.00000 1.039e-3 1.737e-3 258 congenital heart defects, multiple types, 7 Lymphedema 1 1 FLT4 (3) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital hypoplasia of clavicle Congenital total cataract 1 0 LEMD2 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital ichthyosis with hypotrichosis syndrome Ichthyosis 1 0 ST14 (1) 0.05882 1.00000 1.039e-3 1.737e-3 232 Congenital limbs-face contractures-hypotonia-developmental delay syndrome Distal arthrogryposis 1 1 NALCN (2) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital muscular hypertrophy-cerebral syndrome Rett syndrome 1 1 SMC1A (4) 0.05882 1.00000 1.039e-3 1.737e-3 congenital myasthenic syndrome 10 Rett syndrome 1 1 DOK7 (2) 0.05882 1.00000 1.039e-3 1.737e-3 congenital myopathy with myasthenic-like onset Lymphedema 1 1 PAX7 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital retinal aneurysm Rett syndrome 1 0 RS1 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital retinal anomaly Rett syndrome 1 0 RS1 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Congenital sclerocornea Congenital total cataract 1 0 GJA8 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Contractures, pterygia, and spondylocarpotarsal fusion syndrome Distal arthrogryposis 1 1 MYH3 (5) 0.05882 1.00000 1.039e-3 1.737e-3 Contractures, pterygia, and variable skeletal fusions syndrome Distal arthrogryposis 1 1 MYH3 (5) 0.05882 1.00000 1.039e-3 1.737e-3 Coronary stenosis Urinary retention 1 1 EDN1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Coronary stenosis Myosin storage myopathy 1 1 MYH7 (3) 0.05882 1.00000 1.039e-3 1.737e-3 104 Biventricular noncompaction cardiomyopathy Coronary stenosis 1 1 MYH7 (2) 0.05882 1.00000 1.039e-3 1.737e-3 104 Coronary stenosis MYH7-related skeletal myopathy 1 1 MYH7 (3) 0.05882 1.00000 1.039e-3 1.737e-3 104 Coronary stenosis dilated cardiomyopathy 1S 1 1 MYH7 (3) 0.05882 1.00000 1.039e-3 1.737e-3 104 craniosynostosis 2 Dental enamel hypoplasia 1 1 MSX2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Deafness with cataract, intellectual disability, and polyneuropathy Patent ductus arteriosus 1 1 PSMC3 (4) 0.05882 1.00000 1.039e-3 1.737e-3 Delayed sleep phase syndrome Seasonal affective disorder 1 1 CRY1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Dental enamel hypoplasia Testicular regression syndrome 1 1 DHX37 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Central hypothyroidism Dental enamel hypoplasia 1 1 ROBO1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Aromatic l-amino-acid decarboxylase deficiency Pheochromocytoma 1 1 DDC (4) 0.05882 1.00000 1.039e-3 1.737e-3 Arthrogryposis with oculomotor limitation and retinal anomalies Distal arthrogryposis 1 1 PIEZO2 (6) 0.05882 1.00000 1.039e-3 1.737e-3 Arthrogryposis with oculomotor limitation and retinal anomalies Pulmonary edema 1 1 PIEZO2 (4) 0.05882 1.00000 1.039e-3 1.737e-3 Atrophia bulborum heritaria Primary aldosteronism 1 1 NDP (2) 0.05882 1.00000 1.039e-3 1.737e-3 Atypical absence epilepsy Seasonal affective disorder 1 0 NPY (1) 0.05882 1.00000 1.039e-3 1.737e-3 Autoimmune neurological syndrome Axonal hereditary motor and sensory neuropathy 1 1 MFN2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 168 Autoimmune neurological syndrome multiple symmetric lipomatosis with partial lipodystrophy 1 1 MFN2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 168 Autoimmune neurological syndrome Charcot-Marie-Tooth disease type 2A2 1 1 MFN2 (2) 0.05882 1.00000 1.039e-3 1.737e-3 168 Autoimmune neurological syndrome Delta-sarcoglycan-related limb-girdle muscular dystrophy r6 1 1 SGCD (2) 0.05882 1.00000 1.039e-3 1.737e-3 Autoimmune neurological syndrome dilated cardiomyopathy 1L 1 1 SGCD (2) 0.05882 1.00000 1.039e-3 1.737e-3 Behavior disorders Seasonal affective disorder 1 0 SLC6A4 (1) 0.05882 1.00000 1.039e-3 1.737e-3 Benign mesial temporal lobe epilepsy Generalized epilepsy with febrile seizures plus 1 1 CPA6 (3) 0.05882 1.00000 1.039e-3 1.737e-3 CDKL5 disorder Rett syndrome 1 1 CDKL5 (5) 0.05882 1.00000 1.039e-3 1.737e-3 55 Cerebrovascular trauma Coronary stenosis 1 1 PHACTR1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Charcot-Marie-Tooth disease type 2A1 Pheochromocytoma 1 1 KIF1B (4) 0.05882 1.00000 1.039e-3 1.737e-3 Childhood-onset benign chorea with striatal involvement Thyroiditis 1 1 PDE10A (3) 0.05882 1.00000 1.039e-3 1.737e-3 Choroidal neovascularization Gliosarcoma 1 0 VEGFA (1) 0.05882 1.00000 1.039e-3 1.737e-3 Chromosome 22q11.2 deletion syndrome Loeys-dietz syndrome 1 0 ABCA3 (1) 0.05882 1.00000 1.039e-3 1.737e-3 ciliary dyskinesia, primary, 39 Congenital fibrosis of extraocular muscles 1 1 LRRC56 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Coats disease Primary aldosteronism 1 1 NDP (2) 0.05882 1.00000 1.039e-3 1.737e-3 Cocoon syndrome Congenital anomaly of limb 1 1 CHUK (4) 0.05882 1.00000 1.039e-3 1.737e-3 Codas syndrome Mitochondrial encephalomyopathy 1 1 LONP1 (7) 0.05882 1.00000 1.039e-3 1.737e-3 62 Bile duct neoplasms Gliosarcoma 1 1 EGFR (2) 0.05882 1.00000 1.039e-3 1.737e-3 Bohring-opitz-like syndrome Distal arthrogryposis 1 1 KLHL7 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Breast cyst Primary aldosteronism 1 1 CACNA1D (3) 0.05882 1.00000 1.039e-3 1.737e-3 116 Breast neoplasms Coloboma, cleft lip-palate and mental retardation syndrome 1 1 YAP1 (2) 0.05882 1.00000 1.039e-3 1.737e-3 419 Breast neoplasms Uveal coloboma-cleft lip and palate-intellectual disability 1 1 YAP1 (5) 0.05882 1.00000 1.039e-3 1.737e-3 419 Autoimmune uveitis Breast neoplasms 1 1 CXCL8 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Breast neoplasms melanoma, cutaneous malignant, susceptibility to, 3 1 1 CDK4 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Brunner syndrome Pheochromocytoma 1 1 MAOA (5) 0.05882 1.00000 1.039e-3 1.737e-3 Bullous pyoderma gangrenosum Vacterl association 1 1 PTPN6 (2) 0.05882 1.00000 1.039e-3 1.737e-3 Cataract-alopecia-sclerodactyly syndrome Congenital total cataract 1 0 LSS (1) 0.05882 1.00000 1.039e-3 1.737e-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 1.737e-3 Hypertensive nephropathy Proliferative diabetic retinopathy 2 0 PRKAG2 (1), WDR72 (1) 0.03636 0.10000 9.834e-4 1.678e-3 Proliferative diabetic retinopathy Retinopathy of prematurity 2 1 SERPINE1 (1), HLA-B (2) 0.03636 0.10000 9.834e-4 1.678e-3 Growth hormone-secreting pituitary adenoma Primary bilateral macronodular adrenal hyperplasia 1 1 GNAS (2) 0.12500 0.33333 9.739e-4 1.663e-3 Disruptive impulse-control and conduct disorder Rippling muscle disease 1 0 OXTR (1) 0.12500 0.33333 9.739e-4 1.663e-3 Hemiplegia Ovarian diseases 1 1 CGA (2) 0.12500 0.33333 9.739e-4 1.663e-3 Chilblain lupus erythematosus hereditary breast carcinoma 1 1 ATRIP (2) 0.12500 0.33333 9.739e-4 1.663e-3 Arachnoid cysts Hereditary hyperekplexia 1 1 GPHN (3) 0.12500 0.33333 9.739e-4 1.663e-3 Arachnoid cysts Hyperekplexia 1 1 GPHN (3) 0.12500 0.33333 9.739e-4 1.663e-3 Congenital stenosis of aortic valve Hypocalcemic vitamin d-dependent rickets 1 1 VDR (2) 0.12500 0.33333 9.739e-4 1.663e-3 Blepharophimosis-intellectual disability syndrome Intellectual developmental disorder speech dysmorphic 1 1 SMARCA2 (5) 0.12500 0.33333 9.739e-4 1.663e-3 Autoimmune hemolytic anemia Mycosis fungoides 1 1 CTLA4 (2) 0.12500 0.33333 9.739e-4 1.663e-3 Bilateral microphthalmos Non-syndromic cataract 1 1 EPHA2 (2) 0.12500 0.33333 9.739e-4 1.663e-3 Constipation Orthostatic hypotension 1 1 OPRM1 (2) 0.12500 0.33333 9.739e-4 1.663e-3 lissencephaly spectrum disorders Sotos syndrome 1 1 APC2 (3) 0.12500 0.33333 9.739e-4 1.663e-3 Littles disease Selective immunoglobulin a deficiency 1 1 IFIH1 (2) 0.12500 0.33333 9.739e-4 1.663e-3 Littles disease Spastic paraplegia, x-linked 1 0 SPAST (1) 0.12500 0.33333 9.739e-4 1.663e-3 Male breast carcinoma Myelogenous leukemia 1 0 CCDC170 (1) 0.12500 0.33333 9.739e-4 1.663e-3 Biliary tract neoplasms Male breast carcinoma 1 1 PRKACB (2) 0.12500 0.33333 9.739e-4 1.663e-3 38 Coronal craniosynostosis Extraskeletal myxoid chondrosarcoma 1 1 TCF12 (2) 0.12500 0.33333 9.739e-4 1.663e-3 250 Bronchus cancer familial sleep-related hypermotor epilepsy 1 1 CHRNA4 (2) 0.12500 0.33333 9.739e-4 1.663e-3 familial sleep-related hypermotor epilepsy Respiratory system cancer 1 1 CHRNA4 (2) 0.12500 0.33333 9.739e-4 1.663e-3 Intracranial thrombosis Three-vessel coronary artery disease 1 1 ABO (2) 0.12500 0.33333 9.739e-4 1.663e-3 Aortic rupture Torg-winchester syndrome 1 1 MMP2 (2) 0.12500 0.33333 9.739e-4 1.663e-3 Clonal cytopenia of undetermined significance Upper extremity fracture 1 1 ARID1A (2) 0.12500 0.33333 9.739e-4 1.663e-3 Aortic rupture Combined deficiency of vitamin k-dependent clotting factors 1 1 VKORC1 (5) 0.12500 0.33333 9.739e-4 1.663e-3 Desbuquois dysplasia Pseudoxanthoma elasticum 1 1 XYLT1 (4) 0.12500 0.33333 9.739e-4 1.663e-3 Dias-logan syndrome Hemoglobin e disease 1 1 BCL11A (4) 0.12500 0.33333 9.739e-4 1.663e-3 Congenital iris coloboma Dyschromatosis symmetrica hereditaria 1 1 ABCB6 (7) 0.12500 0.33333 9.739e-4 1.663e-3 14q11.2 microduplication syndrome Congenital ptosis 1 1 CHD8 (2) 0.12500 0.33333 9.739e-4 1.663e-3 280 46, xy disorder of sex development 46,xx sex reversal 1 1 NR5A1 (3) 0.12500 0.33333 9.739e-4 1.663e-3 183 Acne inversa Dowling degos disease 1 1 PSENEN (4) 0.12500 0.33333 9.739e-4 1.663e-3 Apnea Hereditary hyperekplexia 1 1 SLC6A5 (4) 0.12500 0.33333 9.739e-4 1.663e-3 Childhood-onset epilepsy syndrome Frontal lobe epilepsy 1 1 KCNT1 (3) 0.12500 0.33333 9.739e-4 1.663e-3 423 Choanal atresia syndrome Vissers-bodmer syndrome 1 1 KMT2D (4) 0.12500 0.33333 9.739e-4 1.663e-3 95 Chromosome 3p25 monosomy Disruptive impulse-control and conduct disorder 1 1 OXTR (2) 0.12500 0.33333 9.739e-4 1.663e-3 Congenital respiratory system anomaly Cyanosis 1 1 TGFB2 (2) 0.12500 0.33333 9.739e-4 1.663e-3 Corticobasal syndrome Dowling degos disease 1 1 ADAM10 (2) 0.12500 0.33333 9.739e-4 1.663e-3 Aortic rupture Coumarin resistance 1 1 VKORC1 (3) 0.12500 0.33333 9.739e-4 1.663e-3 Bronchus cancer Coumarin resistance 1 1 CYP2A6 (3) 0.12500 0.33333 9.739e-4 1.663e-3 Ataxia with oculomotor apraxia Tay-sachs disease 1 0 SETX (1) 0.12500 0.33333 9.739e-4 1.663e-3 Benign adult familial myoclonic epilepsy Cyanosis 1 1 ADRA2B (2) 0.12500 0.33333 9.739e-4 1.663e-3 ARHGAP29-related non-syndromic orofacial cleft Cleft lip and palate 1 1 ARHGAP29 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia 5 1 1 TMEM43 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Autoinflammation, antibody deficiency, and immune dysregulation Cor pulmonale 1 1 PLCG2 (6) 0.06250 1.00000 9.742e-4 1.663e-3 Barakat syndrome Gastro-entero-pancreatic neuroendocrine tumor 1 1 GATA3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 BARD1-related cancer predisposition Hereditary breast and ovarian cancer syndrome 1 1 BARD1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 39 Beriberi Gastro-entero-pancreatic neuroendocrine tumor 1 1 SERPINA1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 236 Developmental delay with ataxia, hypotonia, and facial dysmorphism Mobius syndrome 1 1 EBF3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Arrhythmogenic right ventricular dysplasia dilated cardiomyopathy 1BB 1 1 DSG2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 3 Arrhythmogenic right ventricular dysplasia dilated cardiomyopathy 1C 1 1 LDB3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Arrhythmogenic right ventricular dysplasia dilated cardiomyopathy 1HH 1 1 BAG3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 3 Disabling pansclerotic morphea of childhood Systemic scleroderma 1 1 STAT4 (4) 0.06250 1.00000 9.742e-4 1.663e-3 Dna2-related mitochondrial dna deletion syndrome Mitochondrial myopathy 1 1 DNA2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 duane retraction syndrome 2 Mobius syndrome 1 1 CHN1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Dyschromatosis Rotator cuff tear 1 1 SASH1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 378 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 1.663e-3 enhanced s-cone syndrome inherited retinal dystrophy 1 0 NR2E3 (1) 0.06250 1.00000 9.742e-4 1.663e-3 Bmp4-related ocular growth disorder Cleft lip and palate 1 1 BMP4 (3) 0.06250 1.00000 9.742e-4 1.663e-3 BRCA1-related cancer predisposition Hereditary breast and ovarian cancer syndrome 1 1 BRCA1 (5) 0.06250 1.00000 9.742e-4 1.663e-3 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Rotator cuff tear 1 1 SASH1 (4) 0.06250 1.00000 9.742e-4 1.663e-3 378 Arrhythmogenic right ventricular dysplasia cardiomyopathy, dilated, 2l 1 1 LDB3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Cognitive impairment with or without cerebellar ataxia Tremor 1 1 SCN8A (5) 0.06250 1.00000 9.742e-4 1.663e-3 Colobomatous microphthalmia colobomatous microphthalmia-rhizomelic dysplasia syndrome 1 1 MAB21L2 (4) 0.06250 1.00000 9.742e-4 1.663e-3 52 Colorectal adenomatous polyposis Congenital pontocerebellar hypoplasia 1 1 MUTYH (2) 0.06250 1.00000 9.742e-4 1.663e-3 combined immunodeficiency due to RELA haploinsufficiency Cystitis 1 1 RELA (3) 0.06250 1.00000 9.742e-4 1.663e-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 1.663e-3 Congenital factor xi deficiency Cor pulmonale 1 1 F11 (3) 0.06250 1.00000 9.742e-4 1.663e-3 Congenital hyperammonemia Macular telangiectasia 1 1 CPS1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Congenital pontocerebellar hypoplasia neurodegeneration, childhood-onset, with cerebellar atrophy 1 1 AGTPBP1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Corpus callosum agenesis with facial anomalies and cerebellar ataxia Craniofacial microsomia 1 1 FRMD4A (3) 0.06250 1.00000 9.742e-4 1.663e-3 278 Craniofacial microsomia Intestinal dysmotility syndrome 1 1 ANO1 (4) 0.06250 1.00000 9.742e-4 1.663e-3 278 Craniofacial microsomia Deafness with labyrinthine aplasia, microtia, and microdontia 1 1 FGF3 (4) 0.06250 1.00000 9.742e-4 1.663e-3 278 Cleft lip and palate Craniofaciocardiohepatic syndrome 1 1 AMOTL1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Cyp2d6 deficiency Tremor 1 1 CYP2D6 (2) 0.06250 1.00000 9.742e-4 1.663e-3 66 Cystitis systemic lupus erythematosus, susceptibility to, 1 1 1 TLR5 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Craniofacial microsomia Deafness with congenital inner ear agenesis, microtia, and microdontia 1 1 FGF3 (4) 0.06250 1.00000 9.742e-4 1.663e-3 278 Delpire-mcneill syndrome Uterine prolapse 1 1 SLC12A2 (5) 0.06250 1.00000 9.742e-4 1.663e-3 22q11 deletion syndrome Syntelencephaly 1 1 FGF8 (3) 0.06250 1.00000 9.742e-4 1.663e-3 110 22q11 deletion syndrome Septopreoptic holoprosencephaly 1 1 FGF8 (3) 0.06250 1.00000 9.742e-4 1.663e-3 110 Alkuraya-kucinskas syndrome Renal agenesis 1 1 BLTP1 (3) 0.06250 1.00000 9.742e-4 1.663e-3 Alpha-1 antitrypsin deficiency Gastro-entero-pancreatic neuroendocrine tumor 1 1 SERPINA1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 236 17,20-lyase deficiency Amenorrhea 1 1 CYP17A1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Amenorrhea Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Amenorrhea hypercholesterolemia, autosomal dominant, type B 1 1 APOB (2) 0.06250 1.00000 9.742e-4 1.663e-3 Amenorrhea P450 oxidoreductase deficiency 1 1 POR (2) 0.06250 1.00000 9.742e-4 1.663e-3 amyotrophic lateral sclerosis type 6 Tremor 1 1 FUS (6) 0.06250 1.00000 9.742e-4 1.663e-3 Anorectal malformation Urocanase deficiency 1 1 UROC1 (4) 0.06250 1.00000 9.742e-4 1.663e-3 Anorectal malformation Urocanate hydratase deficiency 1 1 UROC1 (5) 0.06250 1.00000 9.742e-4 1.663e-3 Anterior cruciate ligament injury Secondary parkinson disease 1 1 CNR2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Catatonia Tremor 1 1 CHRM4 (2) 0.06250 1.00000 9.742e-4 1.663e-3 66 Catifa syndrome Cleft lip and palate 1 1 RIC1 (4) 0.06250 1.00000 9.742e-4 1.663e-3 136 Central hypothyroidism Renal agenesis 1 0 ROBO1 (1) 0.06250 1.00000 9.742e-4 1.663e-3 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism Congenital pontocerebellar hypoplasia 1 1 PRDM13 (4) 0.06250 1.00000 9.742e-4 1.663e-3 Choroidal neovascularization Portal hypertension 1 1 VEGFA (2) 0.06250 1.00000 9.742e-4 1.663e-3 Chromosome 10q deletion syndrome Mobius syndrome 1 1 EBF3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Chromosome 12p deletion syndrome Urinary system disease 1 1 ERC1 (3) 0.06250 1.00000 9.742e-4 1.663e-3 Cleft lip and palate Cleft lip/palate-ectodermal dysplasia syndrome 1 1 NECTIN1 (6) 0.06250 1.00000 9.742e-4 1.663e-3 Craniofacial microsomia T-cell immunodeficiency 1 1 FOXI3 (5) 0.06250 1.00000 9.742e-4 1.663e-3 46,xy gonadal dysgenesis Testicular regression syndrome 1 1 DHX37 (2) 0.06250 1.00000 9.742e-4 1.663e-3 149 Cor pulmonale Thiamine-responsive megaloblastic anemia 1 1 SLC19A2 (7) 0.06250 1.00000 9.742e-4 1.663e-3 Polymorphic catecholaminergic ventricular tachycardia Timothy syndrome 1 1 CACNA1C (6) 0.06250 1.00000 9.742e-4 1.663e-3 Myotonia Tremor 1 1 SCN4A (2) 0.06250 1.00000 9.742e-4 1.663e-3 Dyskinesia, drug-induced Tyrosine hydroxylase deficiency 1 1 TH (4) 0.06250 1.00000 9.742e-4 1.663e-3 Chuvash erythrocytosis Urinary system disease 1 1 VHL (5) 0.06250 1.00000 9.742e-4 1.663e-3 Urinary system disease Urinary tract obstruction 1 0 RIOX2 (1) 0.06250 1.00000 9.742e-4 1.663e-3 117 Intracranial aneurysm Wagner syndrome 1 1 VCAN (6) 0.06250 1.00000 9.742e-4 1.663e-3 Muscle eye brain disease muscular dystrophy-dystroglycanopathy 1 1 LARGE1 (3) 0.06250 1.00000 9.742e-4 1.663e-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 1.663e-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 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in CRPPA 1 1 CRPPA (3) 0.06250 1.00000 9.742e-4 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in FKRP 1 1 FKRP (4) 0.06250 1.00000 9.742e-4 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in FKTN 1 1 FKTN (4) 0.06250 1.00000 9.742e-4 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in GMPPB 1 1 GMPPB (4) 0.06250 1.00000 9.742e-4 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in POMGNT1 1 1 POMGNT1 (4) 0.06250 1.00000 9.742e-4 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in POMGNT2 1 1 POMGNT2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in POMT1 1 1 POMT1 (4) 0.06250 1.00000 9.742e-4 1.663e-3 40 Muscle eye brain disease myopathy caused by variation in POMT2 1 1 POMT2 (4) 0.06250 1.00000 9.742e-4 1.663e-3 40 Arrhythmogenic right ventricular dysplasia Naxos disease 1 1 JUP (6) 0.06250 1.00000 9.742e-4 1.663e-3 nephronophthisis 2 Urinary system disease 1 1 INVS (2) 0.06250 1.00000 9.742e-4 1.663e-3 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures Syntelencephaly 1 1 DLL1 (3) 0.06250 1.00000 9.742e-4 1.663e-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 1.663e-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 1.663e-3 40 Neurooculorenal syndrome Renal agenesis 1 1 ROBO1 (4) 0.06250 1.00000 9.742e-4 1.663e-3 Gastro-entero-pancreatic neuroendocrine tumor Neutropenia, nonimmune chronic idiopathic, adult 1 1 GFI1 (3) 0.06250 1.00000 9.742e-4 1.663e-3 Hereditary breast and ovarian cancer syndrome nijmegen breakage syndrome 1 1 NBN (2) 0.06250 1.00000 9.742e-4 1.663e-3 39 Dyskinesia, drug-induced obsolete early infantile epileptic encephalopathy 1 1 GAD1 (3) 0.06250 1.00000 9.742e-4 1.663e-3 118 Coloboma Ocular dysgenesis 1 1 ELP4 (3) 0.06250 1.00000 9.742e-4 1.663e-3 Dyskinesia, drug-induced GTP cyclohydrolase I deficiency 1 1 GCH1 (3) 0.06250 1.00000 9.742e-4 1.663e-3 Hengel maroofian schols syndrome Urinary system disease 1 1 BCAS3 (4) 0.06250 1.00000 9.742e-4 1.663e-3 Hydrops with lactic acidosis and sideroblastic anemia Mitochondrial myopathy 1 1 LARS2 (5) 0.06250 1.00000 9.742e-4 1.663e-3 Hyperpituitarism MECOM-associated syndrome 1 1 MECOM (2) 0.06250 1.00000 9.742e-4 1.663e-3 Colchicine resistance Hyperpituitarism 1 1 ABCB1 (3) 0.06250 1.00000 9.742e-4 1.663e-3 120 Gastro-entero-pancreatic neuroendocrine tumor hypoparathyroidism-deafness-renal disease syndrome 1 1 GATA3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Craniofacial microsomia Otodental dysplasia 1 1 FGF3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 278 Craniofacial microsomia Otodental syndrome 1 1 FGF3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 278 46,xy gonadal dysgenesis Ovarian teratoma 1 1 BMP15 (2) 0.06250 1.00000 9.742e-4 1.663e-3 149 Hereditary breast and ovarian cancer syndrome PALB2-related cancer predisposition 1 1 PALB2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Gastro-entero-pancreatic neuroendocrine tumor pancytopenia due to IKZF1 mutations 1 1 IKZF1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 PLA2G6-associated neurodegeneration Uterine prolapse 1 1 PLA2G6 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Portal hypertension renal tubular dysgenesis of genetic origin 1 1 REN (2) 0.06250 1.00000 9.742e-4 1.663e-3 70 Arginine vasopressin deficiency Portal hypertension 1 1 AVP (2) 0.06250 1.00000 9.742e-4 1.663e-3 Colobomatous microphthalmia progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Hereditary breast and ovarian cancer syndrome RAD51C-related cancer predisposition 1 1 RAD51C (3) 0.06250 1.00000 9.742e-4 1.663e-3 Hereditary breast and ovarian cancer syndrome RAD51D-related cancer predisposition 1 1 RAD51D (3) 0.06250 1.00000 9.742e-4 1.663e-3 Renal agenesis Testicular regression syndrome 1 0 DHX37 (1) 0.06250 1.00000 9.742e-4 1.663e-3 Renal agenesis renal dysplasia, cystic, susceptibility to 1 1 BICC1 (2) 0.06250 1.00000 9.742e-4 1.663e-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 1.663e-3 Arrhythmogenic right ventricular dysplasia Rienhoff syndrome 1 1 TGFB3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Renal agenesis Right aortic arch 1 0 BLTP1 (1) 0.06250 1.00000 9.742e-4 1.663e-3 Mitochondrial myopathy Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 1 1 RRM2B (4) 0.06250 1.00000 9.742e-4 1.663e-3 Secondary parkinson disease Vesiculobullous skin disease 1 1 PRKN (3) 0.06250 1.00000 9.742e-4 1.663e-3 395 Butyrylcholinesterase deficiency Secondary parkinson disease 1 1 BCHE (5) 0.06250 1.00000 9.742e-4 1.663e-3 inherited retinal dystrophy snowflake vitreoretinal degeneration 1 0 KCNJ13 (1) 0.06250 1.00000 9.742e-4 1.663e-3 hypotonia, ataxia, and delayed development syndrome Mobius syndrome 1 1 EBF3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 immunodeficiency 122 Uterine prolapse 1 1 POLD3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Gastro-entero-pancreatic neuroendocrine tumor immunodeficiency 63 with lymphoproliferation and autoimmunity 1 1 IL2RB (2) 0.06250 1.00000 9.742e-4 1.663e-3 236 Gastro-entero-pancreatic neuroendocrine tumor immunodeficiency 84 1 1 IKZF3 (2) 0.06250 1.00000 9.742e-4 1.663e-3 immunodeficiency 92 Tremor 1 1 REL (2) 0.06250 1.00000 9.742e-4 1.663e-3 66 Interstitial systitis Tremor 1 1 ADRB2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Amenorrhea Isolated follicle-stimulating hormone deficiency 1 1 FSHB (2) 0.06250 1.00000 9.742e-4 1.663e-3 193 kufor-rakeb syndrome Secondary parkinson disease 1 1 ATP13A2 (3) 0.06250 1.00000 9.742e-4 1.663e-3 Cor pulmonale Factor xi deficiency 1 1 F11 (4) 0.06250 1.00000 9.742e-4 1.663e-3 Arrhythmogenic right ventricular dysplasia familial isolated arrhythmogenic right ventricular dysplasia 1 1 DSC2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 3 familial ovarian cancer Hereditary breast and ovarian cancer syndrome 1 1 BRIP1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 fanconi anemia complementation group j Hereditary breast and ovarian cancer syndrome 1 1 BRIP1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 fanconi anemia complementation group n Hereditary breast and ovarian cancer syndrome 1 1 PALB2 (2) 0.06250 1.00000 9.742e-4 1.663e-3 fanconi anemia complementation group o Hereditary breast and ovarian cancer syndrome 1 1 RAD51C (3) 0.06250 1.00000 9.742e-4 1.663e-3 fanconi anemia, complementation group s Hereditary breast and ovarian cancer syndrome 1 1 BRCA1 (5) 0.06250 1.00000 9.742e-4 1.663e-3 Colobomatous microphthalmia Focal dermal hypoplasia 1 1 PORCN (7) 0.06250 1.00000 9.742e-4 1.663e-3 52 Gastro-entero-pancreatic neuroendocrine tumor Panniculitis 1 1 SERPINA1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 236 Gastro-entero-pancreatic neuroendocrine tumor Thiamine deficiency 1 1 SERPINA1 (2) 0.06250 1.00000 9.742e-4 1.663e-3 236 Goldmann-favre syndrome inherited retinal dystrophy 1 1 NR2E3 (4) 0.06250 1.00000 9.742e-4 1.663e-3 Macular telangiectasia Phosphoserine phosphatase deficiency 1 1 PSPH (3) 0.06250 1.00000 9.742e-4 1.663e-3 Macular telangiectasia Ocular dysgenesis 1 1 ELP4 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Macular telangiectasia spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 1 SLC1A4 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Coloboma microphthalmia, isolated, with coloboma 7 1 1 ABCB6 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Colobomatous microphthalmia microphthalmia, isolated, with coloboma 7 1 1 ABCB6 (2) 0.06250 1.00000 9.742e-4 1.663e-3 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Mitochondrial myopathy 1 1 SLC25A4 (2) 0.06250 1.00000 9.742e-4 1.663e-3 Cystitis Mucocutaneous ulceration 1 1 RELA (4) 0.06250 1.00000 9.742e-4 1.663e-3 80 inherited retinal dystrophy mucopolysaccharidosis type 3C 1 0 HGSNAT (1) 0.06250 1.00000 9.742e-4 1.663e-3 Bladder exstrophy and epispadias complex Cystic kidney disease 2 0 PKD1 (1), LRRC37A2 (1) 0.03846 0.07692 9.377e-4 1.624e-3 Bilateral generalized polymicrogyria Hemimegalencephaly 1 1 GRIN1 (2) 0.11111 0.50000 9.090e-4 1.575e-3 Binge eating disorder Isolated systolic hypertension 1 1 APOB (2) 0.11111 0.50000 9.090e-4 1.575e-3 201 Absence epilepsy Birk-barel syndrome 1 1 KCNK9 (5) 0.11111 0.50000 9.090e-4 1.575e-3 Blast crisis Hyper-igm immunodeficiency syndrome 1 1 AICDA (6) 0.11111 0.50000 9.090e-4 1.575e-3 Bloom syndrome Hyper-igm immunodeficiency syndrome 1 1 UNG (5) 0.11111 0.50000 9.090e-4 1.575e-3 Bmpr1a-related juvenile polyposis Hereditary hemorrhagic telangiectasia 1 1 SMAD4 (3) 0.11111 0.50000 9.090e-4 1.575e-3 Cebalid syndrome Focal cortical dysplasia 1 1 MTOR (3) 0.11111 0.50000 9.090e-4 1.575e-3 Cebalid syndrome Hemimegalencephaly 1 1 MTOR (2) 0.11111 0.50000 9.090e-4 1.575e-3 Childhood-onset spinal muscular atrophy Distal muscular dystrophy 1 1 BICD2 (2) 0.11111 0.50000 9.090e-4 1.575e-3 Cobalamin c disease Donnai-barrow syndrome 1 0 LMBRD1 (1) 0.11111 0.50000 9.090e-4 1.575e-3 Early onset alzheimers disease with behavioral disturbance Hereditary hemorrhagic telangiectasia 1 0 PSEN1 (1) 0.11111 0.50000 9.090e-4 1.575e-3 Early onset alzheimers disease with behavioral disturbance Klippel-feil syndrome 1 0 LRRK2 (1) 0.11111 0.50000 9.090e-4 1.575e-3 Congenital venous anomaly ehlers-danlos syndrome, classic type 1 1 COL5A1 (2) 0.11111 0.50000 9.090e-4 1.575e-3 Embryonal carcinoma Gingival diseases 1 1 TNFRSF8 (2) 0.11111 0.50000 9.090e-4 1.575e-3 334 15q13.3 microdeletion syndrome Congenital omphalocele 1 1 CHRNA7 (5) 0.11111 0.50000 9.090e-4 1.575e-3 109 Acrodysostosis Carney complex 1 1 PRKAR1A (8) 0.11111 0.50000 9.090e-4 1.575e-3 Anaptoglobinemia Sensory peripheral neuropathy 1 1 ATP7B (2) 0.11111 0.50000 9.090e-4 1.575e-3 congenital heart disease with heterotaxy syndrome Dextrocardia 1 1 ZIC3 (3) 0.11111 0.50000 9.090e-4 1.575e-3 54 Bonnevie-ullrich syndrome Congenital isolated growth hormone deficiency 1 0 GH1 (1) 0.11111 0.50000 9.090e-4 1.575e-3 Conjunctivitis Skin hair eye pigmentation variation 1 1 HERC2 (2) 0.11111 0.50000 9.090e-4 1.575e-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 1.575e-3 Cortical occipital malformations Focal cortical dysplasia 1 0 TBR1 (1) 0.11111 0.50000 9.090e-4 1.575e-3 Congenital omphalocele Currarino syndrome 1 1 PCSK5 (2) 0.11111 0.50000 9.090e-4 1.575e-3 109 Congenital septal defect of heart Currarino syndrome 1 1 PCSK5 (2) 0.11111 0.50000 9.090e-4 1.575e-3 Cerebral atrophy Deoxyguanosine kinase deficiency 1 1 DGUOK (2) 0.11111 0.50000 9.090e-4 1.575e-3 Familial temporal lobe epilepsy lissencephaly with cerebellar hypoplasia 1 1 RELN (5) 0.11111 0.50000 9.090e-4 1.575e-3 209 17q12 microdeletion syndrome Mayer-rokitansky-kuster-hauser syndrome 1 1 HNF1B (2) 0.11111 0.50000 9.090e-4 1.575e-3 145 Deafness, sensorineural, autosomal-mitochondrial type Renal hypertension 1 0 ND1 (1) 0.11111 0.50000 9.090e-4 1.575e-3 Congenital omphalocele Sacral defect 1 1 PCSK5 (2) 0.11111 0.50000 9.090e-4 1.575e-3 109 autosomal dominant polycystic kidney disease Saldino-mainzer syndrome 1 1 IFT140 (3) 0.11111 0.50000 9.090e-4 1.575e-3 Pendred syndrome Seizures, tonic-clonic, photosensitive 1 1 KCNJ10 (6) 0.11111 0.50000 9.090e-4 1.575e-3 Diabetes mellitus ketosis prone Hepatic adenoma 1 1 HNF1A (4) 0.11111 0.50000 9.090e-4 1.575e-3 Cryohydrocytosis Hereditary elliptocytosis 1 1 SLC4A1 (5) 0.11111 0.50000 9.090e-4 1.575e-3 Hereditary motor and sensory neuropathy Nail dystrophy 1 1 MFN2 (4) 0.11111 0.50000 9.090e-4 1.575e-3 Hypercapnia Renal hypertension 1 1 NPPA (2) 0.11111 0.50000 9.090e-4 1.575e-3 Pendred syndrome Usher syndrome type 1 1 1 MYO7A (2) 0.11111 0.50000 9.090e-4 1.575e-3 Gingival diseases Ventricular tachycardia 1 1 ABCA5 (4) 0.11111 0.50000 9.090e-4 1.575e-3 Congenital deformity of clavicle X-linked centronuclear myopathy 1 0 DNM2 (1) 0.11111 0.50000 9.090e-4 1.575e-3 61 Congenital deformity of elbow X-linked centronuclear myopathy 1 0 DNM2 (1) 0.11111 0.50000 9.090e-4 1.575e-3 61 Diabetes mellitus ketosis prone Neonatal diabetes mellitus with congenital hypothyroidism 1 1 IL2RA (2) 0.11111 0.50000 9.090e-4 1.575e-3 Central nervous system non-hodgkin lymphoma Neutral lipid storage disease with ichthyosis 1 1 ANO10 (2) 0.11111 0.50000 9.090e-4 1.575e-3 Intellectual developmental disorder hypotonic x-linked non-syndromic X-linked intellectual disability 1 1 HUWE1 (2) 0.11111 0.50000 9.090e-4 1.575e-3 117 Cardiac rhythm disease Paroxysmal tachycardia 1 1 SCN5A (2) 0.11111 0.50000 9.090e-4 1.575e-3 140 Ectopic rhythm Paroxysmal tachycardia 1 1 SCN5A (2) 0.11111 0.50000 9.090e-4 1.575e-3 140 Mayer-rokitansky-kuster-hauser syndrome Peho syndrome 1 1 ZNHIT3 (6) 0.11111 0.50000 9.090e-4 1.575e-3 Hereditary angioedema Periodontal ehlers-danlos syndrome 1 1 C1S (3) 0.11111 0.50000 9.090e-4 1.575e-3 Arthralgia Porokeratosis 1 1 MVK (6) 0.11111 0.50000 9.090e-4 1.575e-3 Hepatic veno occlusive disease Porphyruria 1 0 HFE (1) 0.11111 0.50000 9.090e-4 1.575e-3 251 Dermatofibrosarcoma protuberans Prostatic hyperplasia 1 1 PDGFB (2) 0.11111 0.50000 9.090e-4 1.575e-3 Acroosteolysis Fahr's disease 1 1 PDGFRB (3) 0.11111 0.50000 9.090e-4 1.575e-3 Familial ventricular tachycardia Gingival diseases 1 1 ABCA5 (4) 0.11111 0.50000 9.090e-4 1.575e-3 Frontonasal dysplasia Parietal foramina 1 1 ALX4 (6) 0.11111 0.50000 9.090e-4 1.575e-3 Gallbladder disease Xanthomatosis 1 1 ABCG5 (2) 0.11111 0.50000 9.090e-4 1.575e-3 Dermatofibrosarcoma protuberans Gingival diseases 1 1 PDGFB (2) 0.11111 0.50000 9.090e-4 1.575e-3 Focal cortical dysplasia Intellectual developmental disorder autism speech 1 1 TBR1 (3) 0.11111 0.50000 9.090e-4 1.575e-3 Hereditary hemorrhagic telangiectasia juvenile polyposis syndrome 1 1 ENG (7) 0.11111 0.50000 9.090e-4 1.575e-3 Ichthyosis vulgaris Sebaceous gland disease 1 1 FLG (3) 0.06667 1.00000 9.092e-4 1.575e-3 263 Distal myopathy IMPG1-related dominant retinopathy 1 1 IMPG1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 310 Distal myopathy IMPG1-related recessive retinopathy 1 1 IMPG1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 310 Distal myopathy IMPG2-related recessive retinopathy 1 1 IMPG2 (2) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 Intellectual developmental disorder microcephaly cerebellar Partington syndrome 1 1 CASK (2) 0.06667 1.00000 9.092e-4 1.575e-3 329 intellectual disability, X-linked 107 Partington syndrome 1 1 STEEP1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 329 Intestinal disease normophosphatemic familial tumoral calcinosis 1 1 SAMD9 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital hypothyroidism Iodide peroxidase deficiency 1 1 TPO (3) 0.06667 1.00000 9.092e-4 1.575e-3 102 Angle closure glaucoma isolated microphthalmia 6 1 1 PRSS56 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Bicuspid aortic valve keutel syndrome 1 1 MGP (3) 0.06667 1.00000 9.092e-4 1.575e-3 kufor-rakeb syndrome Neurodegeneration with brain iron accumulation 1 1 ATP13A2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 107 Blindness Lactic acidosis 1 0 PMPCA (1) 0.06667 1.00000 9.092e-4 1.575e-3 158 multisystemic smooth muscle dysfunction syndrome Nephrosclerosis 1 1 ACTA2 (3) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 Neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation 4 1 1 C19orf12 (6) 0.06667 1.00000 9.092e-4 1.575e-3 107 Hemochromatosis neurodegeneration with brain iron accumulation 9 1 1 FTH1 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Neurodegeneration with brain iron accumulation neuroferritinopathy 1 1 FTL (3) 0.06667 1.00000 9.092e-4 1.575e-3 Bicuspid aortic valve NOTCH1-related AOS spectrum disorder 1 1 NOTCH1 (4) 0.06667 1.00000 9.092e-4 1.575e-3 NYX-related retinopathy Oguchi disease 1 1 NYX (2) 0.06667 1.00000 9.092e-4 1.575e-3 160 Anophthalmia Ocular dysgenesis 1 1 ELP4 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Aland island eye disease Oguchi disease 1 0 CACNA1F (1) 0.06667 1.00000 9.092e-4 1.575e-3 Anophthalmia Orbital disease 1 1 RARB (2) 0.06667 1.00000 9.092e-4 1.575e-3 Avascular necrosis of bone Osteolysis, hereditary multicentric 1 1 MMP2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Metabolic bone disorder Osteolysis, hereditary multicentric 1 1 MMP2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Osteolysis, hereditary multicentric Osteonecrosis of medial femoral condyle 1 1 MMP2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 GRM6-related retinopathy Oguchi disease 1 1 GRM6 (2) 0.06667 1.00000 9.092e-4 1.575e-3 160 Hemochromatosis hemochromatosis type 2A 1 1 HJV (6) 0.06667 1.00000 9.092e-4 1.575e-3 148 Hemochromatosis hemochromatosis type 2B 1 1 HAMP (6) 0.06667 1.00000 9.092e-4 1.575e-3 148 Hemochromatosis hemochromatosis type 3 1 1 TFR2 (6) 0.06667 1.00000 9.092e-4 1.575e-3 148 Hemochromatosis hemochromatosis type 5 1 1 FTH1 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Hemochromatosis Hemosiderosis 1 1 CP (2) 0.06667 1.00000 9.092e-4 1.575e-3 Hepatic lipase deficiency Hyperemia 1 1 LIPC (3) 0.06667 1.00000 9.092e-4 1.575e-3 hereditary hyperferritinemia with congenital cataracts Neurodegeneration with brain iron accumulation 1 1 FTL (3) 0.06667 1.00000 9.092e-4 1.575e-3 hereditary spastic paraplegia 35 Neurodegeneration with brain iron accumulation 1 1 FA2H (3) 0.06667 1.00000 9.092e-4 1.575e-3 107 hereditary thrombocytopenia and hematologic cancer predisposition syndrome Pancytopenia 1 1 RUNX1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Hydrops with lactic acidosis and sideroblastic anemia Perrault syndrome 1 1 LARS2 (7) 0.06667 1.00000 9.092e-4 1.575e-3 353 Hemochromatosis Hypochromic anemia 1 1 SLC11A2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Hypophosphatasia Metabolic bone disorder 1 1 ALPL (4) 0.06667 1.00000 9.092e-4 1.575e-3 Blindness LCA5-related retinopathy 1 1 LCA5 (2) 0.06667 1.00000 9.092e-4 1.575e-3 158 FAS-related autoimmune lymphoproliferative immune disorder Lymphoproliferative syndrome 1 1 FAS (2) 0.06667 1.00000 9.092e-4 1.575e-3 Hyper-ige syndrome Lymphoproliferative syndrome 1 1 STAT3 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Lymphoproliferative syndrome lymphoproliferative syndrome 1 1 1 ITK (5) 0.06667 1.00000 9.092e-4 1.575e-3 Lymphoproliferative syndrome lymphoproliferative syndrome 2 1 1 CD27 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital hypothyroidism macrothrombocytopenia, isolated, 1, autosomal dominant 1 1 TUBB1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Malabsorption syndrome Pancytopenia 1 1 SLC46A1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 428 MECOM-associated syndrome Pancytopenia 1 1 MECOM (3) 0.06667 1.00000 9.092e-4 1.575e-3 428 Congenital hydrocephalus medium chain acyl-coa dehydrogenase deficiency 1 1 ACADM (2) 0.06667 1.00000 9.092e-4 1.575e-3 16q24.3 microdeletion syndrome Metabolic bone disorder 1 1 ANKRD11 (2) 0.06667 1.00000 9.092e-4 1.575e-3 kbg syndrome Metabolic bone disorder 1 1 ANKRD11 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Metabolic bone disorder Micromelia 1 0 ALPL (1) 0.06667 1.00000 9.092e-4 1.575e-3 Anophthalmia microphthalmia, syndromic 12 1 1 RARB (2) 0.06667 1.00000 9.092e-4 1.575e-3 Miles-carpenter syndrome Partington syndrome 1 0 ZC4H2 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Diabetic cardiomyopathy mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 1 1 SLC25A4 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Mowat-wilson syndrome Papillary thyroid cancer 1 1 ZEB2 (7) 0.06667 1.00000 9.092e-4 1.575e-3 Endocrine system disease multiple congenital anomalies-hypotonia-seizures syndrome 1 1 1 PIGN (2) 0.06667 1.00000 9.092e-4 1.575e-3 80 Nephrosclerosis retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 1 1 ALPK1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Oguchi disease retinitis pigmentosa 47 1 1 SAG (7) 0.06667 1.00000 9.092e-4 1.575e-3 160 Blindness Retinitis pigmentosa with choroidal involvement 1 1 RPE65 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Blindness RHO-related retinopathy 1 1 RHO (2) 0.06667 1.00000 9.092e-4 1.575e-3 Hemochromatosis Right ventricle hypoplasia 1 1 BMP2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Blindness RPE65-related dominant retinopathy 1 1 RPE65 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Blindness RPE65-related recessive retinopathy 1 1 RPE65 (3) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal recessive limb-girdle muscular dystrophy Sarcotubular myopathy 1 1 TRIM32 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Lymphoproliferative syndrome severe combined immunodeficiency due to CD70 deficiency 1 1 CD70 (3) 0.06667 1.00000 9.092e-4 1.575e-3 405 Hepatic encephalopathy severe combined immunodeficiency due to DNA-PKcs deficiency 1 1 PRKDC (3) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 Bronchial hyperreactivity Sleep deprivation 1 1 PTGS1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Bicuspid aortic valve SMAD6-related disease 1 1 SMAD6 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Anterior segment mesenchymal dysgenesis spinocerebellar ataxia type 29 1 1 ITPR1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Spondylometaphyseal dysplasia spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 1 1 PCYT1A (7) 0.06667 1.00000 9.092e-4 1.575e-3 Spondylometaphyseal dysplasia spondylometaphyseal dysplasia, 'corner fracture' type 1 1 FN1 (6) 0.06667 1.00000 9.092e-4 1.575e-3 Stickler syndrome Stickler syndrome, type 4 1 1 COL9A1 (8) 0.06667 1.00000 9.092e-4 1.575e-3 308 Endocrine system disease syndromic multisystem autoimmune disease due to ITCH deficiency 1 1 ITCH (2) 0.06667 1.00000 9.092e-4 1.575e-3 80 Spondylometaphyseal dysplasia TRIP11-related skeletal dysplasia 1 1 TRIP11 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Oguchi disease TRPM1-related retinopathy 1 1 TRPM1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 160 Nephrosclerosis Vascular ehlers-danlos syndrome 1 1 COL3A1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 350 Anophthalmia Waardenburg anophthalmia syndrome 1 1 SMOC1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Stickler syndrome Wagner syndrome 1 1 VCAN (6) 0.06667 1.00000 9.092e-4 1.575e-3 Partington syndrome Wieacker syndrome 1 1 ZC4H2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Partington syndrome Wieacker-wolff syndrome 1 1 ZC4H2 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Testicular disease Wilson disease 1 1 ATP7B (7) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital hypothyroidism X-linked central congenital hypothyroidism with late-onset testicular enlargement 1 1 IGSF1 (5) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 102 Hemochromatosis X-linked erythropoietic protoporphyria 1 1 ALAS2 (5) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 329 Partington syndrome X-linked myopathy with excessive autophagy 1 1 RPL10 (3) 0.06667 1.00000 9.092e-4 1.575e-3 329 Intestinal disease Yao syndrome 1 1 NOD2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 401 Erythrokeratodermia with ataxia Rosacea 1 1 ELOVL4 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Esophageal stenosis Esophageal ulcer 1 1 SOD2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Fanconi anemia complementation group C Pancytopenia 1 1 FANCC (2) 0.06667 1.00000 9.092e-4 1.575e-3 Collagenous colitis Fatigue syndrome 1 1 HLA-DQA1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Fatigue syndrome Right hypoplastic heart syndrome 1 1 TBX20 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital epicanthus fibrodysplasia ossificans progressiva 1 1 ACVR1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 196 Bicuspid aortic valve Focal palmoplantar keratoderma with joint keratoses 1 1 DSG1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Folic acid deficiency Pancytopenia 1 1 DHFR (2) 0.06667 1.00000 9.092e-4 1.575e-3 Cartilage disease Gata2 deficiency 1 1 GATA2 (4) 0.06667 1.00000 9.092e-4 1.575e-3 generalized epilepsy-paroxysmal dyskinesia syndrome Metabolic bone disorder 1 1 KCNMA1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Genetic hyperferritinemia without iron overload Neurodegeneration with brain iron accumulation 1 1 FTL (4) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital hypothyroidism Genetic transient congenital hypothyroidism 1 1 DUOX2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 102 glomerulopathy with fibronectin deposits 2 Spondylometaphyseal dysplasia 1 1 FN1 (6) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal recessive limb-girdle muscular dystrophy gnathodiaphyseal dysplasia 1 0 ANO5 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Granulomatous inflammatory arthritis-dermatitis-uveitis, familial Intestinal disease 1 0 NOD2 (1) 0.06667 1.00000 9.092e-4 1.575e-3 401 Cleft palate and bilateral cleft lip Zunich neuroectodermal syndrome 1 1 PIGL (2) 0.06667 1.00000 9.092e-4 1.575e-3 pancreatic agenesis 1 Permanent neonatal diabetes mellitus 1 1 PDX1 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Pancreatic beta-cell agenesis with neonatal diabetes mellitus Permanent neonatal diabetes mellitus 1 1 PTF1A (5) 0.06667 1.00000 9.092e-4 1.575e-3 Pancytopenia pancytopenia due to IKZF1 mutations 1 1 IKZF1 (4) 0.06667 1.00000 9.092e-4 1.575e-3 pancytopenia due to IKZF1 mutations Rosacea 1 1 IKZF1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Neurodegeneration with brain iron accumulation Pantothenate kinase-associated neurodegeneration 1 1 PANK2 (5) 0.06667 1.00000 9.092e-4 1.575e-3 107 Hairy cell leukemia Papillary thyroid cancer 1 1 BRAF (2) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital digestive system anomaly Papillary thyroid cancer 1 1 RET (2) 0.06667 1.00000 9.092e-4 1.575e-3 161 Medullary thyroid cancer Papillary thyroid cancer 1 0 RET (1) 0.06667 1.00000 9.092e-4 1.575e-3 161 multiple endocrine neoplasia type 2B Papillary thyroid cancer 1 1 RET (2) 0.06667 1.00000 9.092e-4 1.575e-3 161 Bicuspid aortic valve Periodic paralysis with later-onset distal motor neuropathy 1 0 ATP8 (1) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 26 Congenital pectus carinatum Perrault syndrome 1 0 FBN1 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Coronary artery dissection Perrault syndrome 1 0 FBN1 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Perrault syndrome perrault syndrome 3 1 1 CLPP (7) 0.06667 1.00000 9.092e-4 1.575e-3 Perrault syndrome perrault syndrome 2 1 1 HARS2 (6) 0.06667 1.00000 9.092e-4 1.575e-3 353 Congenital epicanthus pitt-hopkins syndrome 1 1 TCF4 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Neurodegeneration with brain iron accumulation PLA2G6-associated neurodegeneration 1 1 PLA2G6 (6) 0.06667 1.00000 9.092e-4 1.575e-3 Bronchial hyperreactivity platelet-type bleeding disorder 12 1 1 PTGS1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Endocrine system disease Prader-willi-like syndrome 1 1 CPE (3) 0.06667 1.00000 9.092e-4 1.575e-3 80 Cholangitis progressive familial intrahepatic cholestasis type 3 1 1 ABCB4 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Anophthalmia progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Anterior segment mesenchymal dysgenesis progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Angle closure glaucoma congenital myasthenic syndrome 6 1 1 CHAT (2) 0.06667 1.00000 9.092e-4 1.575e-3 Anterior segment mesenchymal dysgenesis Congenital primary aphakia 1 1 FOXE3 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Anterior segment mesenchymal dysgenesis Congenital sclerocornea 1 0 GJA8 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Connective and soft tissue disorder Nephrosclerosis 1 1 COL3A1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 350 Corpus callosum agenesis with facial anomalies and robin sequence Partington syndrome 1 0 DDX3X (1) 0.06667 1.00000 9.092e-4 1.575e-3 Bronchial hyperreactivity Cramp-fasciculation syndrome 1 1 TRPA1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Creatine phosphokinase elevation Distal myopathy 1 1 CAV3 (5) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 Cartilage disease Deafness-lymphedema-leukemia syndrome 1 1 GATA2 (4) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 Caveolinopathy Distal myopathy 1 1 CAV3 (4) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 196 Blindness Cerebelloparenchymal disorder 1 1 PMPCA (2) 0.06667 1.00000 9.092e-4 1.575e-3 158 Cerebrotendinous xanthomatosis Metabolic bone disorder 1 1 CYP27A1 (5) 0.06667 1.00000 9.092e-4 1.575e-3 Childhood-onset sensorineural hearing impairment Perrault syndrome 1 1 PRORP (2) 0.06667 1.00000 9.092e-4 1.575e-3 353 Caffey disease Cholangitis 1 1 COL1A1 (6) 0.06667 1.00000 9.092e-4 1.575e-3 93 Cholangitis Maternal hypertension 1 1 COL1A1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 93 Cholangitis Rhizomelia 1 1 COL1A1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 93 Cholestanol storage disease Metabolic bone disorder 1 1 CYP27A1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Bicuspid aortic valve Chromosome 6q24-q25 deletion syndrome 1 0 TAB2 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Coasy protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 1 1 COASY (5) 0.06667 1.00000 9.092e-4 1.575e-3 Coenzyme a synthase protein associated neurodegeneration Neurodegeneration with brain iron accumulation 1 1 COASY (4) 0.06667 1.00000 9.092e-4 1.575e-3 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Testicular disease 1 1 PPP3CA (4) 0.06667 1.00000 9.092e-4 1.575e-3 102 Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome autosomal recessive limb-girdle muscular dystrophy 1 1 ANO5 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Ataxia with polyneuropathy Bicuspid aortic valve 1 0 ATP6 (1) 0.06667 1.00000 9.092e-4 1.575e-3 ATP1A3-associated neurological disorder Congenital epicanthus 1 1 ATP1A3 (2) 0.06667 1.00000 9.092e-4 1.575e-3 196 Atrial and intestinal dysrhythmia Intestinal disease 1 1 SGO1 (6) 0.06667 1.00000 9.092e-4 1.575e-3 Atrophoderma vermiculata Developmental dysplasia of the hip 1 1 LRP1 (5) 0.06667 1.00000 9.092e-4 1.575e-3 247 autoimmune lymphoproliferative syndrome type 1 Testicular disease 1 1 FASLG (3) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal dominant cerebellar ataxia Vascular brain injury 1 1 NPTX1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 109 autosomal recessive limb-girdle muscular dystrophy Intellectual developmental disorder movement cerebellar 1 1 TRAPPC11 (4) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal recessive osteopetrosis 3 Cholangitis 1 1 CA2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Axial spondylometaphyseal dysplasia Spondylometaphyseal dysplasia 1 1 CFAP410 (4) 0.06667 1.00000 9.092e-4 1.575e-3 23 autosomal recessive limb-girdle muscular dystrophy bardet-biedl syndrome 11 1 0 TRIM32 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Behavior disorders Fatigue syndrome 1 0 SLC6A4 (1) 0.06667 1.00000 9.092e-4 1.575e-3 392 Benign concentric annular macular dystrophy Distal myopathy 1 1 IMPG1 (4) 0.06667 1.00000 9.092e-4 1.575e-3 310 Benign fasciculation-cramp syndrome Bronchial hyperreactivity 1 1 TRPA1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal recessive limb-girdle muscular dystrophy Beta-sarcoglycanopathy 1 1 SGCB (3) 0.06667 1.00000 9.092e-4 1.575e-3 Anterior segment mesenchymal dysgenesis Bilateral congenital mydriasis 1 0 ITPR1 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Blau syndrome Intestinal disease 1 1 NOD2 (7) 0.06667 1.00000 9.092e-4 1.575e-3 401 Bmp4-related ocular growth disorder Cartilage disease 1 1 BMP4 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Bmp4-related ocular growth disorder Stickler syndrome 1 1 BMP4 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Brunner syndrome Hepatic encephalopathy 1 1 MAOA (5) 0.06667 1.00000 9.092e-4 1.575e-3 Burnett schwartz berberian syndrome Developmental dysplasia of the hip 1 1 LRP1 (4) 0.06667 1.00000 9.092e-4 1.575e-3 247 Camptodactyly Esophageal ulcer 1 1 TLN2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Esophageal ulcer 1 1 SASH1 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Capos syndrome Congenital epicanthus 1 1 ATP1A3 (2) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 cataract 50 with or without glaucoma Intestinal disease 1 1 TRPM3 (2) 0.06667 1.00000 9.092e-4 1.575e-3 combined immunodeficiency due to RELA haploinsufficiency Endocrine system disease 1 1 RELA (3) 0.06667 1.00000 9.092e-4 1.575e-3 80 Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Spondylometaphyseal dysplasia 1 1 ACP5 (2) 0.06667 1.00000 9.092e-4 1.575e-3 23 Anterior segment mesenchymal dysgenesis Congenital aphakia 1 0 FOXE3 (1) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital brain dysgenesis due to glutamine synthetase deficiency Hepatic encephalopathy 1 1 GLUL (6) 0.06667 1.00000 9.092e-4 1.575e-3 Anterior segment mesenchymal dysgenesis Congenital cataract anterior segment dysgenesis syndrome 1 1 PITX3 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Bicuspid aortic valve Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige 1 1 DSG1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital folate absorption defect Pancytopenia 1 1 SLC46A1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 428 Bicuspid aortic valve congenital heart defects, multiple types, 2 1 1 TAB2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital hydrocephalus SMARCC1-associated developmental dysgenesis syndrome 1 1 SMARCC1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 298 Congenital hydrocephalus scott syndrome 1 1 ANO6 (2) 0.06667 1.00000 9.092e-4 1.575e-3 298 Congenital hydrocephalus Delta-sarcoglycan-related limb-girdle muscular dystrophy r6 1 1 SGCD (2) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital hypoplasia of pancreas Permanent neonatal diabetes mellitus 1 1 PDX1 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Rosacea 1 1 ELOVL4 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital malabsorptive diarrhea Permanent neonatal diabetes mellitus 1 1 NEUROG3 (3) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-3 Congenital microvillous atrophy Intestinal disease 1 1 MYO5B (3) 0.06667 1.00000 9.092e-4 1.575e-3 Developmental delay with immunodeficiency syndrome Endocrine system disease 1 1 NFE2L2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Developmental dysplasia of the hip Tricuspid atresia 1 1 LRP1 (4) 0.06667 1.00000 9.092e-4 1.575e-3 247 Developmental dysplasia of the hip Hip dislocation-facial dysmorphism syndrome 1 1 TRIM33 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Congenital hydrocephalus dilated cardiomyopathy 1L 1 1 SGCD (2) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal recessive limb-girdle muscular dystrophy dilated cardiomyopathy 1L 1 0 SGCD (1) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal recessive limb-girdle muscular dystrophy Distal anoctaminopathy 1 1 ANO5 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Distal myopathy distal myopathy with vocal cord weakness 1 1 MATR3 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Dorfman-chanarin disease Lamellar ichthyosis 1 1 ABHD5 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Dyschromatosis Esophageal ulcer 1 1 SASH1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 Distal myopathy Dysferlinopathy 1 1 DYSF (3) 0.06667 1.00000 9.092e-4 1.575e-3 autosomal recessive limb-girdle muscular dystrophy Dysferlinopathy 1 1 DYSF (3) 0.06667 1.00000 9.092e-4 1.575e-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 1.575e-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 1.575e-3 ehlers-danlos syndrome, vascular type Nephrosclerosis 1 1 COL3A1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 350 Endocrine system disease immunodeficiency, developmental delay, and hypohomocysteinemia 1 1 NFE2L2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Endocrine system disease Mucocutaneous ulceration 1 1 RELA (4) 0.06667 1.00000 9.092e-4 1.575e-3 80 20p12.3 microdeletion syndrome Hemochromatosis 1 1 BMP2 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Aceruloplasminemia Hemochromatosis 1 1 CP (4) 0.06667 1.00000 9.092e-4 1.575e-3 Acral self-healing collodion baby Lamellar ichthyosis 1 1 TGM1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 232 Acrokeratosis verruciformis Diabetic cardiomyopathy 1 1 ATP2A2 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Aica-ribosiduria Blindness 1 1 ATIC (3) 0.06667 1.00000 9.092e-4 1.575e-3 158 Aica-ribosiduria Spondylometaphyseal dysplasia 1 1 ATIC (2) 0.06667 1.00000 9.092e-4 1.575e-3 AIPL1-related retinopathy Blindness 1 1 AIPL1 (2) 0.06667 1.00000 9.092e-4 1.575e-3 158 Alstrom syndrome Stickler syndrome 1 1 ALMS1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia Distal myopathy 1 1 TIA1 (3) 0.06667 1.00000 9.092e-4 1.575e-3 Angel-shaped phalangoepiphyseal dysplasia Developmental dysplasia of the hip 1 1 GDF5 (4) 0.06667 1.00000 9.092e-4 1.575e-3 Anterior cruciate ligament injury Hyperemia 1 1 CNR2 (2) 0.06667 1.00000 9.092e-4 1.575e-3 anterior segment dysgenesis 7 Anterior segment mesenchymal dysgenesis 1 1 PXDN (3) 0.06667 1.00000 9.092e-4 1.575e-3 anterior segment dysgenesis 8 Anterior segment mesenchymal dysgenesis 1 1 CPAMD8 (3) 0.06667 1.00000 9.092e-4 1.575e-3 82 aortic valve disease 3 Bicuspid aortic valve 1 1 ROBO4 (3) 0.06667 1.00000 9.092e-4 1.575e-3 26 Hyperopia Seborrheic dermatitis 3 1 PRICKLE2 (1), MYRF (2), SGPL1 (1) 0.02632 0.08108 8.907e-4 1.575e-3 Hemorrhoid Ileocolitis 2 0 PHLDB2 (1), PLCXD2 (1) 0.02083 0.25000 9.043e-4 1.575e-3 Developmental regression Vesicoureteral reflux 2 1 NDUFAF6 (2), EBF3 (1) 0.03636 0.11111 8.850e-4 1.569e-3 Hypertriglyceridemia Williams syndrome 2 2 BAZ1B (4), TBL2 (3) 0.03922 0.08333 8.586e-4 1.522e-3 Basal ganglia disease Thiamine-responsive encephalopathy 1 1 SLC19A3 (5) 0.07143 1.00000 8.443e-4 1.497e-3 Essential thrombocythemia Thrombocythemia with distal limb defects 1 1 THPO (2) 0.07143 1.00000 8.443e-4 1.497e-3 98 Platelet disorder thrombocytopenia 2 1 1 ANKRD26 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Platelet disorder TPM4-related platelet disorder 1 1 TPM4 (2) 0.07143 1.00000 8.443e-4 1.497e-3 67 Congenital abnormalities Upper extremity deformity, congenital 1 1 EZH2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Steroid-resistant nephrotic syndrome Ventriculomegaly with cystic kidney disease 1 1 CRB2 (5) 0.07143 1.00000 8.443e-4 1.497e-3 Cutaneous polyarteritis nodosa Vertebral column disorder 1 1 SMAD3 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Carbamazepine hypersensitivity Vertebral column disorder 1 1 HLA-B (2) 0.07143 1.00000 8.443e-4 1.497e-3 179 Thrombophlebitis Vertebral column disorder 1 1 HLA-B (2) 0.07143 1.00000 8.443e-4 1.497e-3 179 Waardenburg syndrome Waardenburg syndrome type 4A 1 1 EDNRB (7) 0.07143 1.00000 8.443e-4 1.497e-3 Waardenburg syndrome Waardenburg syndrome type 4C 1 1 SOX10 (8) 0.07143 1.00000 8.443e-4 1.497e-3 Optic neuritis Wilson disease 1 1 ATP7B (5) 0.07143 1.00000 8.443e-4 1.497e-3 Oculocutaneous albinism X-linked cerebral cerebellar coloboma syndrome 1 1 WDR45 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Oculocutaneous albinism X-linked optic atrophy 1 1 WDR45 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Waardenburg syndrome Yemenite deaf-blind hypopigmentation syndrome 1 1 SOX10 (8) 0.07143 1.00000 8.443e-4 1.497e-3 Hearing loss with hypertrophic cardiomyopathy Waardenburg syndrome 1 0 MYO6 (1) 0.07143 1.00000 8.443e-4 1.497e-3 Erythrocytosis Hemoglobin high altitude adaptation 1 1 EGLN1 (5) 0.07143 1.00000 8.443e-4 1.497e-3 Hengel maroofian schols syndrome Malunion fracture 1 1 BCAS3 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Basal ganglia disease hereditary hyperferritinemia with congenital cataracts 1 1 FTL (2) 0.07143 1.00000 8.443e-4 1.497e-3 hereditary sensory and autonomic neuropathy type 4 Sensory neuropathy 1 1 NTRK1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 173 hereditary thrombocytopenia and hematologic cancer predisposition syndrome Platelet disorder 1 1 RUNX1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Homocystinuria Hyperhomocysteinemia 1 1 CBS (5) 0.07143 1.00000 8.443e-4 1.497e-3 Esophageal stenosis Hyperbilirubinemia 1 1 SOD2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 hypomyelinating leukodystrophy 2 Lymphatic malformation 1 1 GJC2 (6) 0.07143 1.00000 8.443e-4 1.497e-3 Maturity-onset diabetes of the young pancreatic agenesis 1 1 1 PDX1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Erythrocytosis Paraneoplastic syndrome 1 1 EPO (5) 0.07143 1.00000 8.443e-4 1.497e-3 Paris-trousseau thrombocytopenia Platelet disorder 1 1 FLI1 (2) 0.07143 1.00000 8.443e-4 1.497e-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 1.497e-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 1.497e-3 Peripheral primitive neuroectodermal tumor Platelet disorder 1 1 FLI1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Lethal congenital contracture syndrome PIP5K1C-related neurodevelopmental disorder 1 1 PIP5K1C (6) 0.07143 1.00000 8.443e-4 1.497e-3 61 Platelet disorder platelet-type bleeding disorder 11 1 1 GP6 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Constitutional mismatch repair deficiency POLE-related polyposis and colorectal cancer syndrome 1 1 POLE (2) 0.07143 1.00000 8.443e-4 1.497e-3 progressive familial intrahepatic cholestasis type 3 Progressive intrahepatic cholestasis 1 1 ABCB4 (5) 0.07143 1.00000 8.443e-4 1.497e-3 135 Patent ductus venosus Pruritus 1 1 AHR (2) 0.07143 1.00000 8.443e-4 1.497e-3 203 Pruritus Ureteral neoplasms 1 0 AHR (1) 0.07143 1.00000 8.443e-4 1.497e-3 203 Pruritus Urinary bladder calculi 1 0 AHR (1) 0.07143 1.00000 8.443e-4 1.497e-3 203 pseudohyperaldosteronism type 2 Pseudohypoparathyroidism 1 1 NR3C2 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Pseudohypoaldosteronism Pseudohypoparathyroidism 1 1 NR3C2 (5) 0.07143 1.00000 8.443e-4 1.497e-3 pseudohypoaldosteronism type 2D Pseudohypoparathyroidism 1 1 KLHL3 (7) 0.07143 1.00000 8.443e-4 1.497e-3 70 pseudohypoaldosteronism type 2E Pseudohypoparathyroidism 1 1 CUL3 (7) 0.07143 1.00000 8.443e-4 1.497e-3 70 pseudohypoaldosteronism, type IB1, autosomal recessive Pseudohypoparathyroidism 1 1 SCNN1A (6) 0.07143 1.00000 8.443e-4 1.497e-3 70 Macular and posterior pole degeneration RDH5-related retinopathy 1 1 RDH5 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Retinopathy-sensory neuropathy syndrome Sensory neuropathy 1 1 FLVCR1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Lethal congenital contracture syndrome Rigidity and multifocal seizure syndrome, lethal neonatal 1 1 BRAT1 (2) 0.07143 1.00000 8.443e-4 1.497e-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 1.497e-3 Oculocutaneous albinism Rufous oculocutaneous albinism 1 1 TYRP1 (4) 0.07143 1.00000 8.443e-4 1.497e-3 302 schimke immuno-osseous dysplasia Steroid-resistant nephrotic syndrome 1 1 SMARCAL1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 20 Hyperbilirubinemia severe combined immunodeficiency due to IKK2 deficiency 1 1 IKBKB (3) 0.07143 1.00000 8.443e-4 1.497e-3 Spinocerebellar ataxia blindness deafness syndrome Zellweger spectrum disorder 1 1 PEX6 (2) 0.07143 1.00000 8.443e-4 1.497e-3 141 spondyloepiphyseal dysplasia with congenital joint dislocations Vertebral column disorder 1 1 CHST3 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Basal ganglia disease Striatal neurodegeneration 1 1 PDE8B (5) 0.07143 1.00000 8.443e-4 1.497e-3 411 myopathy caused by variation in POMT1 Sensory neuropathy 1 1 POMT1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Lethal congenital contracture syndrome neonatal-onset encephalopathy with rigidity and seizures 1 1 BRAT1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 nephronophthisis 1 Senior-loken syndrome 1 1 NPHP1 (6) 0.07143 1.00000 8.443e-4 1.497e-3 8 nephronophthisis 2 Senior-loken syndrome 1 1 INVS (3) 0.07143 1.00000 8.443e-4 1.497e-3 8 nephronophthisis 4 Senior-loken syndrome 1 1 NPHP4 (7) 0.07143 1.00000 8.443e-4 1.497e-3 8 nephrotic syndrome, type 21 Steroid-resistant nephrotic syndrome 1 1 AVIL (2) 0.07143 1.00000 8.443e-4 1.497e-3 20 Congenital abnormalities neurodegenerative syndrome due to cerebral folate transport deficiency 1 1 FOLR1 (3) 0.07143 1.00000 8.443e-4 1.497e-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 1.497e-3 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Raynaud disease 1 1 HNRNPK (2) 0.07143 1.00000 8.443e-4 1.497e-3 Basal ganglia disease neuroferritinopathy 1 1 FTL (2) 0.07143 1.00000 8.443e-4 1.497e-3 neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoparathyroidism 1 1 WNK1 (7) 0.07143 1.00000 8.443e-4 1.497e-3 neuropathy, hereditary sensory and autonomic, type 2A Sensory neuropathy 1 1 WNK1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 173 Lymphatic malformation obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 1 1 PIEZO1 (5) 0.07143 1.00000 8.443e-4 1.497e-3 Acro-dermo-ungual-lacrimal-tooth syndrome Omphalocele exstrophy imperforate anus 1 1 TP63 (2) 0.07143 1.00000 8.443e-4 1.497e-3 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Omphalocele exstrophy imperforate anus 1 1 TP63 (5) 0.07143 1.00000 8.443e-4 1.497e-3 30 Limb-mammary syndrome Omphalocele exstrophy imperforate anus 1 1 TP63 (5) 0.07143 1.00000 8.443e-4 1.497e-3 30 Omphalocele exstrophy imperforate anus Rudiger syndrome 1 0 TP63 (1) 0.07143 1.00000 8.443e-4 1.497e-3 30 Omphalocele exstrophy imperforate anus Sweat gland neoplasm 1 1 TP63 (2) 0.07143 1.00000 8.443e-4 1.497e-3 30 Costello syndrome legius syndrome 1 1 SPRED1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Lethal congenital contracture syndrome Lethal neonatal rigidity and multifocal seizure syndrome 1 1 BRAT1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Lymphatic malformation Yellow nail syndrome 1 1 CELSR1 (5) 0.07143 1.00000 8.443e-4 1.497e-3 Lymphatic malformation lymphatic malformation 1 1 1 FLT4 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Giant cell glioblastoma LZTR1-related schwannomatosis 1 1 LZTR1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Hyperhomocysteinemia Malabsorption syndrome 1 1 SLC46A1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 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 1.497e-3 Giant cell glioblastoma Metaphyseal enchondromatosis 1 1 IDH1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Hyperhomocysteinemia methylcobalamin deficiency type cblG 1 1 MTR (2) 0.07143 1.00000 8.443e-4 1.497e-3 155 Lymphatic malformation microcephaly with intellectual disability 1 1 MCPH1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Progressive external ophthalmoplegia 1 1 SLC25A4 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Motor skills disorder PTEN hamartoma tumor syndrome 1 1 PTEN (2) 0.07143 1.00000 8.443e-4 1.497e-3 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Motor skills disorder 1 1 SQSTM1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 amyotrophic lateral sclerosis type 1 Motor skills disorder 1 1 SOD1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Ankylosis Motor skills disorder 1 0 FGFR2 (1) 0.07143 1.00000 8.443e-4 1.497e-3 mucopolysaccharidosis type 4B Progressive intrahepatic cholestasis 1 1 GLB1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Hyperbilirubinemia immunodeficiency 15a 1 1 IKBKB (3) 0.07143 1.00000 8.443e-4 1.497e-3 Intellectual developmental disorder dysmorphic brain Malunion fracture 1 1 TRAPPC9 (4) 0.07143 1.00000 8.443e-4 1.497e-3 394 Byzanthine arch palate Intellectual developmental disorder microcephaly strabismus behaviora 1 1 POGZ (3) 0.07143 1.00000 8.443e-4 1.497e-3 Intellectual developmental disorder with retinitis pigmentosa Intracranial hemorrhage 1 1 SCAPER (5) 0.07143 1.00000 8.443e-4 1.497e-3 Intestinal aganglionosis Waardenburg syndrome 1 1 EDNRB (7) 0.07143 1.00000 8.443e-4 1.497e-3 lamb-shaffer syndrome Vertebral column disorder 1 1 SOX5 (2) 0.07143 1.00000 8.443e-4 1.497e-3 EPHB4-associated vascular malformation spectrum Lymphatic malformation 1 1 EPHB4 (5) 0.07143 1.00000 8.443e-4 1.497e-3 fanconi anemia complementation group e Omphalocele exstrophy imperforate anus 1 1 FANCE (2) 0.07143 1.00000 8.443e-4 1.497e-3 30 FLVCR1-related retinopathy with or without ataxia Sensory neuropathy 1 1 FLVCR1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 focal segmental glomerulosclerosis 4, susceptibility to Steroid-resistant nephrotic syndrome 1 1 APOL1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 focal segmental glomerulosclerosis 9 Steroid-resistant nephrotic syndrome 1 1 CRB2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Byzanthine arch palate Fowler syndrome 1 1 FLVCR2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital abnormalities fragile x syndrome 1 1 FMR1 (3) 0.07143 1.00000 8.443e-4 1.497e-3 Basal ganglia disease Genetic hyperferritinemia without iron overload 1 1 FTL (3) 0.07143 1.00000 8.443e-4 1.497e-3 Achondroplasia Giant cell glioblastoma 1 1 FGFR3 (3) 0.07143 1.00000 8.443e-4 1.497e-3 Camptodactyly, tall stature, and hearing loss syndrome Giant cell glioblastoma 1 1 FGFR3 (5) 0.07143 1.00000 8.443e-4 1.497e-3 Glycine n-methyltransferase deficiency Hyperhomocysteinemia 1 1 GNMT (6) 0.07143 1.00000 8.443e-4 1.497e-3 Glycoprotein vi deficiency Platelet disorder 1 0 GP6 (1) 0.07143 1.00000 8.443e-4 1.497e-3 12p12.1 microdeletion syndrome Vertebral column disorder 1 1 SOX5 (3) 0.07143 1.00000 8.443e-4 1.497e-3 1p36 deletion syndrome Silverman-Handmaker type dyssegmental dysplasia 1 1 HSPG2 (3) 0.07143 1.00000 8.443e-4 1.497e-3 146 1p36 deletion syndrome radio-tartaglia syndrome 1 1 SPEN (3) 0.07143 1.00000 8.443e-4 1.497e-3 146 2-methylbutyryl-coa dehydrogenase deficiency Rheumatic disease 1 1 ACADSB (5) 0.07143 1.00000 8.443e-4 1.497e-3 Abcd syndrome Waardenburg syndrome 1 1 EDNRB (7) 0.07143 1.00000 8.443e-4 1.497e-3 Acatalasia Optic neuritis 1 1 CAT (3) 0.07143 1.00000 8.443e-4 1.497e-3 Acral self-healing collodion baby Congenital ichthyosis 1 1 TGM1 (3) 0.07143 1.00000 8.443e-4 1.497e-3 232 Agammaglobulinemia immunodeficiency 14b, autosomal recessive 1 1 PIK3CD (2) 0.07143 1.00000 8.443e-4 1.497e-3 Agammaglobulinemia immunodeficiency 14 1 1 PIK3CD (2) 0.07143 1.00000 8.443e-4 1.497e-3 Agammaglobulinemia Short syndrome 1 1 PIK3R1 (6) 0.07143 1.00000 8.443e-4 1.497e-3 Agammaglobulinemia agammaglobulinemia 7, autosomal recessive 1 1 PIK3R1 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Agammaglobulinemia agammaglobulinemia 10, autosomal dominant 1 1 SPI1 (3) 0.07143 1.00000 8.443e-4 1.497e-3 184 Agammaglobulinemia agammaglobulinemia 2, autosomal recessive 1 1 IGLL1 (3) 0.07143 1.00000 8.443e-4 1.497e-3 184 Agammaglobulinemia agammaglobulinemia 3, autosomal recessive 1 1 CD79A (3) 0.07143 1.00000 8.443e-4 1.497e-3 184 Agammaglobulinemia agammaglobulinemia 4, autosomal recessive 1 1 BLNK (4) 0.07143 1.00000 8.443e-4 1.497e-3 184 Agammaglobulinemia agammaglobulinemia 6, autosomal recessive 1 1 CD79B (3) 0.07143 1.00000 8.443e-4 1.497e-3 184 Antecubital pterygium syndrome Malunion fracture 1 1 PSD3 (3) 0.07143 1.00000 8.443e-4 1.497e-3 394 Arginase deficiency Hyperbilirubinemia 1 1 ARG1 (5) 0.07143 1.00000 8.443e-4 1.497e-3 Arthrogryposis with anterior horn cell disease Lethal congenital contracture syndrome 1 1 GLE1 (6) 0.07143 1.00000 8.443e-4 1.497e-3 Ataxia with polyneuropathy Neuropathy, ataxia, and retinitis pigmentosa 1 1 ATP6 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Atypical fanconi syndrome Maturity-onset diabetes of the young 1 1 HNF4A (2) 0.07143 1.00000 8.443e-4 1.497e-3 Agammaglobulinemia autosomal agammaglobulinemia 1 1 TCF3 (4) 0.07143 1.00000 8.443e-4 1.497e-3 184 autosomal recessive osteopetrosis 2 Hypercalcemia 1 1 TNFSF11 (3) 0.07143 1.00000 8.443e-4 1.497e-3 259 bardet-biedl syndrome 16 Senior-loken syndrome 1 1 SDCCAG8 (6) 0.07143 1.00000 8.443e-4 1.497e-3 8 Beta-propeller protein-associated neurodegeneration Oculocutaneous albinism 1 1 WDR45 (2) 0.07143 1.00000 8.443e-4 1.497e-3 congenital myasthenic syndrome 7 Thyroid gland neoplasms 1 1 SYT2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital nephrotic syndrome Hyperhomocysteinemia 1 1 NPHS1 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome 1 1 NPHS1 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital primary lymphedema of gordon Lymphatic malformation 1 1 VEGFC (6) 0.07143 1.00000 8.443e-4 1.497e-3 Craniofacial deafness hand syndrome Waardenburg syndrome 1 1 PAX3 (7) 0.07143 1.00000 8.443e-4 1.497e-3 186 craniosynostosis 2 Posterior cortical atrophy 1 1 MSX2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 108 Cryptogenic multifocal ulcerous stenosing enteritis Platelet disorder 1 1 PLA2G4A (3) 0.07143 1.00000 8.443e-4 1.497e-3 Basal ganglia disease Cyp2d6 deficiency 1 1 CYP2D6 (3) 0.07143 1.00000 8.443e-4 1.497e-3 Cyp2d6 deficiency Occupational disease 1 1 CYP2D6 (3) 0.07143 1.00000 8.443e-4 1.497e-3 Cystic kidney disease with ventriculomegaly Steroid-resistant nephrotic syndrome 1 1 CRB2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder Platelet disorder 1 1 PLA2G4A (5) 0.07143 1.00000 8.443e-4 1.497e-3 Deaf blind hypopigmentation syndrome Waardenburg syndrome 1 1 SOX10 (8) 0.07143 1.00000 8.443e-4 1.497e-3 CEP164-related ciliopathy Senior-loken syndrome 1 1 CEP164 (2) 0.07143 1.00000 8.443e-4 1.497e-3 8 CEP290-related ciliopathy Senior-loken syndrome 1 1 CEP290 (7) 0.07143 1.00000 8.443e-4 1.497e-3 Chromosome xq27.3-q28 duplication syndrome Congenital abnormalities 1 1 FMR1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 ciliary dyskinesia, primary, 39 Costello syndrome 1 1 LRRC56 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Byzanthine arch palate Ck syndrome 1 1 NSDHL (7) 0.07143 1.00000 8.443e-4 1.497e-3 398 Developmental delay with autism spectrum disorder Macular and posterior pole degeneration 1 1 HERC2 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Costello syndrome dilated cardiomyopathy 1D 1 1 TNNT2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 dilated cardiomyopathy 1I Hyperhomocysteinemia 1 1 DES (3) 0.07143 1.00000 8.443e-4 1.497e-3 Dubin-johnson syndrome Hyperbilirubinemia 1 1 ABCC2 (6) 0.07143 1.00000 8.443e-4 1.497e-3 Early-onset hypertension with severe exacerbation in pregnancy Pseudohypoparathyroidism 1 1 NR3C2 (3) 0.07143 1.00000 8.443e-4 1.497e-3 ectodermal dysplasia and immunodeficiency 2 Giant cell glioblastoma 1 1 NFKBIA (2) 0.07143 1.00000 8.443e-4 1.497e-3 EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition Erythrocytosis 1 1 EGLN1 (6) 0.07143 1.00000 8.443e-4 1.497e-3 Eiken skeletal dysplasia Pseudohypoparathyroidism 1 1 PTH1R (6) 0.07143 1.00000 8.443e-4 1.497e-3 Byzanthine arch palate Encephaloclastic proliferative vasculopathy 1 1 FLVCR2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Bile duct neoplasms Giant cell glioblastoma 1 1 EGFR (2) 0.07143 1.00000 8.443e-4 1.497e-3 Basal ganglia disease Biotin-thiamine-responsive basal ganglia disease 1 1 SLC19A3 (6) 0.07143 1.00000 8.443e-4 1.497e-3 Bisphosphoglycerate mutase deficiency Erythrocytosis 1 1 BPGM (4) 0.07143 1.00000 8.443e-4 1.497e-3 24 bleeding disorder, platelet-type, 21 Platelet disorder 1 1 FLI1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 bleeding disorder, platelet-type, 22 Platelet disorder 1 1 EPHB2 (2) 0.07143 1.00000 8.443e-4 1.497e-3 67 Blomstrand lethal chondrodysplasia Pseudohypoparathyroidism 1 1 PTH1R (2) 0.07143 1.00000 8.443e-4 1.497e-3 Brunet-wagner neurodevelopmental syndrome Rheumatic disease 1 1 RBL2 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Byzanthine arch palate Congenital pectus carinatum 1 0 FBN1 (1) 0.07143 1.00000 8.443e-4 1.497e-3 Byzanthine arch palate Coronary artery dissection 1 0 FBN1 (1) 0.07143 1.00000 8.443e-4 1.497e-3 C9 deficiency Macular and posterior pole degeneration 1 1 C9 (3) 0.07143 1.00000 8.443e-4 1.497e-3 Café-au-lait macules Giant cell glioblastoma 1 0 LZTR1 (1) 0.07143 1.00000 8.443e-4 1.497e-3 Avoidant restrictive food intake disorder Carotid artery stenosis 1 1 APOE (2) 0.07143 1.00000 8.443e-4 1.497e-3 combined immunodeficiency due to ZAP70 deficiency Posterior cortical atrophy 1 1 ZAP70 (2) 0.07143 1.00000 8.443e-4 1.497e-3 108 Congenital abnormalities NOTCH1-related AOS spectrum disorder 1 1 NOTCH1 (3) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital abnormalities Middle lobe syndrome 1 1 SALL1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital arthrogryposis with anterior horn cell disease Lethal congenital contracture syndrome 1 1 GLE1 (6) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital folate absorption defect Hyperhomocysteinemia 1 1 SLC46A1 (3) 0.07143 1.00000 8.443e-4 1.497e-3 congenital heart defects, multiple types, 7 Lymphatic malformation 1 1 FLT4 (4) 0.07143 1.00000 8.443e-4 1.497e-3 Byzanthine arch palate Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 1 1 NSDHL (3) 0.07143 1.00000 8.443e-4 1.497e-3 398 Congenital hypoplasia of pancreas Maturity-onset diabetes of the young 1 1 PDX1 (2) 0.07143 1.00000 8.443e-4 1.497e-3 Congenital ichthyosis Congenital ichthyosis with hypotrichosis syndrome 1 1 ST14 (3) 0.07143 1.00000 8.443e-4 1.497e-3 232 Congenital microvillous atrophy Progressive intrahepatic cholestasis 1 1 MYO5B (4) 0.07143 1.00000 8.443e-4 1.497e-3 Atypical femoral fracture Thoracic aortic aneurysm 2 0 CNTN4 (1), SMAD6 (1) 0.03704 0.11111 8.390e-4 1.497e-3 64 Aortic dissection Atypical femoral fracture 2 2 IL18R1 (2), SLC9A4 (2) 0.03704 0.11111 8.390e-4 1.497e-3 64 Congenital disorder of glycosylation Congenital myasthenic syndrome 3 3 ALG2 (7), ALG14 (6), DPAGT1 (8) 0.02381 0.10345 8.343e-4 1.497e-3 5 Amblyopia Leukodystrophy 2 0 GALC (1), SLC9A6 (1) 0.04000 0.08000 8.031e-4 1.446e-3 Giant cell arteritis Proliferative diabetic retinopathy 2 1 CCL2 (1), HLA-B (3) 0.03774 0.11111 7.942e-4 1.430e-3 Ovarian diseases Uterine cancer 1 1 CYP19A1 (3) 0.14286 0.33333 7.792e-4 1.404e-3 Epidermolytic palmoplantar keratoderma Pachyonychia congenita 1 1 KRT16 (6) 0.14286 0.33333 7.792e-4 1.404e-3 Colorectal cancer susceptibility Paraquat lung disease 1 1 SMAD7 (4) 0.14286 0.33333 7.792e-4 1.404e-3 356 Pregnancy disorder Spinal cord compression 1 0 TNF (1) 0.14286 0.33333 7.792e-4 1.404e-3 Esophageal varices Vipoma 1 1 SST (2) 0.14286 0.33333 7.792e-4 1.404e-3 340 Extrinsic allergic alveolitis Spinal cord compression 1 0 TNF (1) 0.14286 0.33333 7.792e-4 1.404e-3 Fatty acid metabolism disorder Peroxisomal disorder 1 1 HSD17B4 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Focal epilepsy Roifman syndrome 1 1 CLASP1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Desmoid tumor Gastrointestinal neoplasms 1 1 APC (6) 0.14286 0.33333 7.792e-4 1.404e-3 37 Esophageal achalasia Glucocorticoid deficiency with achalasia 1 1 AAAS (2) 0.14286 0.33333 7.792e-4 1.404e-3 Anti-glomerular basement membrane disease Mycosis fungoides 1 1 CTLA4 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Greither disease Olmsted syndrome 1 1 PERP (4) 0.14286 0.33333 7.792e-4 1.404e-3 Esophageal achalasia Triple a syndrome 1 1 AAAS (3) 0.14286 0.33333 7.792e-4 1.404e-3 Coronary artery vasospasm Ventricular ectopy 1 1 NOS3 (2) 0.14286 0.33333 7.792e-4 1.404e-3 326 Intestinal perforation Ventricular ectopy 1 1 NOS3 (2) 0.14286 0.33333 7.792e-4 1.404e-3 326 Au-kline syndrome Von hippel-lindau syndrome 1 1 VHL (7) 0.14286 0.33333 7.792e-4 1.404e-3 Hepatic fibrosis Hypercholanemia 1 1 SLC10A1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Hereditary hemophagocytic lymphohistiocytosis Microvillus inclusion disease 1 1 STXBP2 (3) 0.14286 0.33333 7.792e-4 1.404e-3 96 Hypercalcemic tumoral calcinosis Idiopathic infantile hypercalcemia 1 1 KL (2) 0.14286 0.33333 7.792e-4 1.404e-3 Arachnoid cysts Hyperexplexia hereditary 1 1 GPHN (2) 0.14286 0.33333 7.792e-4 1.404e-3 Dystonia, dopa-responsive, with or without hyperphenylalaninemia Hyperphenylalaninemia 1 1 SPR (3) 0.14286 0.33333 7.792e-4 1.404e-3 Hyperphosphatemic tumoral calcinosis Idiopathic infantile hypercalcemia 1 1 KL (3) 0.14286 0.33333 7.792e-4 1.404e-3 Basal cell nevus syndrome Hypoparathyroidism 1 1 PTH (3) 0.14286 0.33333 7.792e-4 1.404e-3 Autoimmune polyendocrine syndrome Hypoparathyroidism 1 1 AIRE (7) 0.14286 0.33333 7.792e-4 1.404e-3 Resistant hypertension Ventricular ectopy 1 1 NOS3 (2) 0.14286 0.33333 7.792e-4 1.404e-3 326 Discordant ventriculoarterial connection Right atrial isomerism 1 1 GDF1 (3) 0.14286 0.33333 7.792e-4 1.404e-3 56 Neurogenic diabetes insipidus Shy-drager syndrome 1 1 AVP (3) 0.14286 0.33333 7.792e-4 1.404e-3 Diabetes insipidus Shy-drager syndrome 1 1 AVP (2) 0.14286 0.33333 7.792e-4 1.404e-3 Nephrogenic diabetes insipidus Shy-drager syndrome 1 1 AVP (4) 0.14286 0.33333 7.792e-4 1.404e-3 Hyperkalemic periodic paralysis Smith-lemli-opitz syndrome 1 0 CLCN1 (1) 0.14286 0.33333 7.792e-4 1.404e-3 Spinocerebellar ataxia, x-linked X-linked sideroblastic anemia 1 1 ABCB7 (4) 0.14286 0.33333 7.792e-4 1.404e-3 Insulin dependent diabetes mellitus secretory diarrhea syndrome Ritscher-schinzler syndrome 1 1 CCDC22 (5) 0.14286 0.33333 7.792e-4 1.404e-3 Intellectual developmental disorder dysmorphic behavioral Muir-torre syndrome 1 1 MSH6 (2) 0.14286 0.33333 7.792e-4 1.404e-3 39 Intellectual developmental disorder dysmorphic behavioral mismatch repair cancer syndrome 1 1 1 MSH6 (2) 0.14286 0.33333 7.792e-4 1.404e-3 39 Cortical dysplasia Intellectual developmental disorder speech autism dysmorphic 1 0 TBR1 (1) 0.14286 0.33333 7.792e-4 1.404e-3 220 Chilblain lupus Interferonopathy 1 1 SAMHD1 (4) 0.14286 0.33333 7.792e-4 1.404e-3 Extrinsic allergic alveolitis MHC class I deficiency 1 1 TAP1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Mild cognitive impairment Parkinsonism-dystonia 1 1 SLC6A3 (4) 0.14286 0.33333 7.792e-4 1.404e-3 336 Mirror movements Partial agenesis of corpus callosum 1 1 DCC (6) 0.14286 0.33333 7.792e-4 1.404e-3 46, xy disorder of sex development Testotoxicosis 1 1 LHCGR (2) 0.14286 0.33333 7.792e-4 1.404e-3 183 Advanced sleep phase syndrome Homocystinuria with megaloblastic anemia 1 1 PER3 (2) 0.14286 0.33333 7.792e-4 1.404e-3 155 Anauxetic dysplasia Metaphyseal dysplasia 1 0 CCDC107 (1) 0.14286 0.33333 7.792e-4 1.404e-3 Anterior polar cataract Non-syndromic cataract 1 1 CRYBB3 (3) 0.14286 0.33333 7.792e-4 1.404e-3 51 Anti-nmda receptor encephalitis Selective immunoglobulin a deficiency 1 1 IFIH1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Antisocial personality disorder Orthostatic hypotension 1 1 ABCB1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 120 Apnea Hyperexplexia hereditary 1 0 SLC6A5 (1) 0.14286 0.33333 7.792e-4 1.404e-3 Apolipoprotein b hypobetalipoproteinemia Benign mucous membrane pemphigoid with ocular involvement 1 1 HLA-DQB1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 1 Apolipoprotein b hypobetalipoproteinemia Bouillaud’s disease 1 1 HLA-DQB1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 1 Acute disseminated encephalomyelitis Apolipoprotein b hypobetalipoproteinemia 1 1 HLA-DQB1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 1 Asymmetric septal hypertrophy Concentric hypertrophic cardiomyopathy 1 0 MYBPC3 (1) 0.14286 0.33333 7.792e-4 1.404e-3 Concentric hypertrophic cardiomyopathy Paroxysmal atrial fibrillation 1 0 MYBPC3 (1) 0.14286 0.33333 7.792e-4 1.404e-3 Activated pi3k-delta syndrome Concussion 1 1 PTEN (2) 0.14286 0.33333 7.792e-4 1.404e-3 Concussion Retinal vasculopathy with cerebral leukodystrophy 1 1 PTEN (2) 0.14286 0.33333 7.792e-4 1.404e-3 Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome Trichohepatoenteric syndrome 1 1 AGK (2) 0.14286 0.33333 7.792e-4 1.404e-3 276 Congenital communicating hydrocephalus Cryptospermia 1 1 TRIM71 (2) 0.14286 0.33333 7.792e-4 1.404e-3 298 Congenital lactic acidosis Microvillus inclusion disease 1 1 STXBP2 (2) 0.14286 0.33333 7.792e-4 1.404e-3 96 Congenital mirror movements Partial agenesis of corpus callosum 1 1 DCC (3) 0.14286 0.33333 7.792e-4 1.404e-3 Arteritis Coronary artery vasospasm 1 1 PON1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Congenital vertebral-cardiac-renal anomalies syndrome Smith-lemli-opitz syndrome 1 1 NADSYN1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Coronary vasospasm Resistant hypertension 1 1 NOS3 (2) 0.14286 0.33333 7.792e-4 1.404e-3 326 Coronary vasospasm Intestinal perforation 1 1 NOS3 (2) 0.14286 0.33333 7.792e-4 1.404e-3 326 Dermatitis herpetiformis Pregnancy disorder 1 0 TNF (1) 0.14286 0.33333 7.792e-4 1.404e-3 Antithrombin deficiency Bronchiolitis 1 0 MUC5B (1) 0.14286 0.33333 7.792e-4 1.404e-3 Brown tendon sheath syndrome Parathyroid disease 1 1 MAFB (2) 0.14286 0.33333 7.792e-4 1.404e-3 Capillary infantile hemangioma Endocrine neoplasms 1 1 KDR (2) 0.14286 0.33333 7.792e-4 1.404e-3 Cerebral artery occlusion Overactive bladder 1 1 ADCYAP1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 Benign mucous membrane pemphigoid with ocular involvement Churg-strauss syndrome 1 1 HLA-DQB1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 1 Bouillaud’s disease Churg-strauss syndrome 1 1 HLA-DQB1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 1 Acute disseminated encephalomyelitis Churg-strauss syndrome 1 1 HLA-DQB1 (2) 0.14286 0.33333 7.792e-4 1.404e-3 1 Dopa-responsive dystonia Hyperphenylalaninemia 1 1 SPR (4) 0.14286 0.33333 7.792e-4 1.404e-3 Cleft eyelid Dyschromatosis symmetrica hereditaria 1 1 ABCB6 (7) 0.14286 0.33333 7.792e-4 1.404e-3 Congenital kidney anomaly Encephalocele 1 0 CEP290 (1) 0.14286 0.33333 7.792e-4 1.404e-3 48 Cervical disc degenerative disorder Diaphyseal bone disorder 1 1 TGFB1 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Collagen vi-related myopathy Diffuse mesangial sclerosis 1 1 COL4A4 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Dihydrolipoamide dehydrogenase deficiency Methemoglobinemia 1 1 CYB5R3 (5) 0.12500 0.50000 7.792e-4 1.404e-3 Duane-radial ray syndrome Laryngeal disease 1 1 IPO8 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Ductus arteriosus, patent Hypercapnia 1 0 NPPA (1) 0.12500 0.50000 7.792e-4 1.404e-3 Dyschromatopsia Retinitis punctata albescens 1 0 EYS (1) 0.12500 0.50000 7.792e-4 1.404e-3 Dyssegmental dysplasia Stuve-wiedemann syndrome 1 1 HSPG2 (4) 0.12500 0.50000 7.792e-4 1.404e-3 146 Embryonal carcinoma Hypereosinophilic syndrome 1 0 TNFSF8 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Atrioventricular excitation abnormality Bile duct disorder 1 1 PRKAG2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 328 Autoimmune interstitial lung disease-arthritis syndrome Cold autoinflammatory syndrome 1 1 NLRP12 (4) 0.12500 0.50000 7.792e-4 1.404e-3 Benign hypercalcemia Hypocalcemia 1 1 CASR (7) 0.12500 0.50000 7.792e-4 1.404e-3 Benign myoclonic epilepsy Cri-du-chat syndrome 1 1 CTNND2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Bifid uvula Van der woude syndrome 1 1 GRHL3 (6) 0.12500 0.50000 7.792e-4 1.404e-3 17 alpha-hydroxyprogesterone aldolase deficiency Disorders of sex development 1 1 AKR1C2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 363 17p13.3 microduplication syndrome Clear cell sarcoma of kidney 1 1 YWHAE (2) 0.12500 0.50000 7.792e-4 1.404e-3 225 Acid-base disorder Laryngeal neoplasms 1 1 ADH1B (2) 0.12500 0.50000 7.792e-4 1.404e-3 Acroosteolysis Hypereosinophilic syndrome 1 1 PDGFRB (3) 0.12500 0.50000 7.792e-4 1.404e-3 Anal polyp Dihydropyrimidine metabolism disorder 1 1 DPYD (2) 0.12500 0.50000 7.792e-4 1.404e-3 365 Anaptoglobinemia Hemolysis 1 1 HP (4) 0.12500 0.50000 7.792e-4 1.404e-3 Aortic valve stenosis Major salivary gland carcinoma 1 0 HACE1 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Cardiac valvular dysplasia Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 1 1 MTHFD1 (5) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital generalized lipodystrophy Isolated systolic hypertension 1 1 BSCL2 (4) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital hearing disorder Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1 0 COL4A3 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital hearing disorder Jervell and lange-nielsen syndrome 1 1 KCNE1 (6) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital isolated growth hormone deficiency Pituitary neoplasms 1 1 GH1 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital keratoglobus Hydrophthalmos 1 0 LTBP2 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital leukocyte adherence deficiency Skin ulcer 1 1 ITGB2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 142 Congenital mesoblastic nephroma Hypereosinophilic syndrome 1 1 ETV6 (2) 0.12500 0.50000 7.792e-4 1.404e-3 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 1.404e-3 260 Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Dysequilibrium syndrome 1 1 ATP8A2 (4) 0.12500 0.50000 7.792e-4 1.404e-3 260 Cerebellar ataxia, neuropathy, and vestibular areflexia Hereditary sensory and motor neuropathy 1 1 RFC1 (4) 0.12500 0.50000 7.792e-4 1.404e-3 243 Cerebellar dysfunction with variable cognitive and behavioral abnormalities Cervical dysplasia 1 0 POU4F1 (1) 0.12500 0.50000 7.792e-4 1.404e-3 60 Cerebellar dysfunction with variable cognitive and behavioral abnormalities Uterine disease 1 1 POU4F1 (2) 0.12500 0.50000 7.792e-4 1.404e-3 60 Chromosome 1q21.1 deletion syndrome Sutural cataract 1 1 GJA8 (5) 0.12500 0.50000 7.792e-4 1.404e-3 Chronic progressive external ophthalmoplegia Visceral neuropathy 1 1 RRM2B (2) 0.12500 0.50000 7.792e-4 1.404e-3 Conjunctivitis Laryngeal disease 1 1 PLG (2) 0.12500 0.50000 7.792e-4 1.404e-3 246 Congenital malformation syndromes associated with short stature Corpus callosum agenesis 1 1 CDK5RAP2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 De lange syndrome Wilson-turner syndrome 1 1 HDAC8 (3) 0.12500 0.50000 7.792e-4 1.404e-3 301 Deafness, sensorineural, autosomal-mitochondrial type Wolfram syndrome 1 0 ND1 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Demyelinating hereditary motor and sensory neuropathy Proximal spinal muscular atrophy 1 1 FBLN5 (3) 0.12500 0.50000 7.792e-4 1.404e-3 Bile duct disease Erythropoietic protoporphyria 1 1 FECH (8) 0.12500 0.50000 7.792e-4 1.404e-3 318 Blepharocheilodontic syndrome Trigeminal nerve disease 1 1 CTNND1 (7) 0.12500 0.50000 7.792e-4 1.404e-3 165 Blepharocheilodontic syndrome Lobular carcinoma 1 1 CDH1 (6) 0.12500 0.50000 7.792e-4 1.404e-3 165 Blepharophimosis intellectual disability syndrome Vein of galen aneurysm 1 0 SMARCA2 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Brachydactyly-elbow wrist dysplasia syndrome Clubfoot 1 1 PITX1 (6) 0.12500 0.50000 7.792e-4 1.404e-3 Axenfeld-rieger syndrome Brittle cornea syndrome 1 1 PRDM5 (6) 0.12500 0.50000 7.792e-4 1.404e-3 Carey-fineman-ziter syndrome Major salivary gland carcinoma 1 1 MYMK (6) 0.12500 0.50000 7.792e-4 1.404e-3 Carotid atherosclerosis Rhabdoid tumor predisposition syndrome 1 1 SMARCA4 (6) 0.12500 0.50000 7.792e-4 1.404e-3 261 Carotid atherosclerosis Thoracic neoplasms 1 1 SMARCA4 (2) 0.12500 0.50000 7.792e-4 1.404e-3 261 Laryngeal neoplasms Wernicke-korsakoff syndrome 1 1 ADH1B (2) 0.12500 0.50000 7.792e-4 1.404e-3 Exanthema Mevalonate kinase deficiency 1 1 MVK (3) 0.12500 0.50000 7.792e-4 1.404e-3 Hepatic adenoma Idiopathic diabetes 1 1 HNF1A (4) 0.12500 0.50000 7.792e-4 1.404e-3 Idiopathic diabetes Neonatal diabetes mellitus with congenital hypothyroidism 1 1 IL2RA (2) 0.12500 0.50000 7.792e-4 1.404e-3 17q12 microdeletion syndrome Ovarian mucinous adenocarcinoma 1 1 HNF1B (2) 0.12500 0.50000 7.792e-4 1.404e-3 145 Aortic arch syndrome Parapsoriasis 1 1 HLA-A (2) 0.12500 0.50000 7.792e-4 1.404e-3 179 Periapical periodontitis Skin ulcer 1 1 FGF2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 142 Contracture of multiple joints Posterior column ataxia with retinitis pigmentosa 1 0 FLVCR2 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Cervical disc degenerative disorder Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 1 IL1B (2) 0.12500 0.50000 7.792e-4 1.404e-3 Cryoglobulinemia Factor viii deficiency 1 0 IFNL4 (1) 0.12500 0.50000 7.792e-4 1.404e-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 1.404e-3 Bifunctional enzyme deficiency Fanconi syndrome 1 1 EHHADH (4) 0.12500 0.50000 7.792e-4 1.404e-3 Fanconi syndrome Fanconi-bickel syndrome 1 1 SLC2A2 (5) 0.12500 0.50000 7.792e-4 1.404e-3 46,xx ovotesticular disorder of sex development Genetic panhypopituitarism 1 1 SOX3 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital malformation syndromes associated with short stature Urethral syndrome 1 1 CDK5RAP2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Aortic arch syndrome Vaginal neoplasms 1 1 IL2 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Vascular remodeling Whim syndrome 1 1 CXCR2 (5) 0.12500 0.50000 7.792e-4 1.404e-3 126 Osteogenic sarcoma Woolly hair 1 1 RB1 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Cockayne syndrome Xfe progeroid syndrome 1 1 ERCC4 (6) 0.12500 0.50000 7.792e-4 1.404e-3 Intellectual disability with craniofacial anomalies and cardiac defects Vein of galen aneurysm 1 1 KAT6A (2) 0.12500 0.50000 7.792e-4 1.404e-3 Collagen vi-related myopathy Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1 1 COL4A3 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Intestinal vascular insufficiency Paralytic strabismus 1 0 NEDD9 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Autoimmune pancreatitis Intrahepatic bile duct cancer 1 1 HLA-DQB1 (2) 0.12500 0.50000 7.792e-4 1.404e-3 Intrahepatic bile duct cancer Tongue cancer 1 0 HLA-DQB1 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Exanthema Recurrent multifocal osteomyelitis 1 1 IL1RN (2) 0.12500 0.50000 7.792e-4 1.404e-3 219 Hallermanns syndrome Right ventricular hypertrophy 1 0 GJA1 (1) 0.12500 0.50000 7.792e-4 1.404e-3 Axenfeld-rieger syndrome Saldino-mainzer syndrome 1 1 IFT140 (3) 0.12500 0.50000 7.792e-4 1.404e-3 Congenital nonspherocytic hemolytic anemia pyruvate kinase deficiency of red cells 1 1 PKLR (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital stationary night blindness RHO-related retinopathy 1 1 RHO (4) 0.07692 1.00000 7.793e-4 1.404e-3 Hypophosphatemic rickets Rickets, x-linked hypophosphatemic 1 1 PHEX (3) 0.07692 1.00000 7.793e-4 1.404e-3 familial thoracic aortic aneurysm and aortic dissection Rienhoff syndrome 1 1 TGFB3 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Rothmund-thomson syndrome Rothmund-Thomson syndrome type 1 1 1 ANAPC1 (6) 0.07692 1.00000 7.793e-4 1.404e-3 94 Fetal akinesia deformation sequence Schaaf-yang syndrome 1 1 MAGEL2 (5) 0.07692 1.00000 7.793e-4 1.404e-3 Atrioventricular septal defect schimke immuno-osseous dysplasia 1 1 SMARCAL1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Majewski syndrome short-rib thoracic dysplasia 7 with or without polydactyly 1 1 WDR35 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Microcephalic dwarfism Specific learning disability 1 1 DNMT3A (2) 0.07692 1.00000 7.793e-4 1.404e-3 338 heyn-sproul-jackson syndrome Specific learning disability 1 1 DNMT3A (2) 0.07692 1.00000 7.793e-4 1.404e-3 338 Specific learning disability Tatton-Brown-Rahman overgrowth syndrome 1 1 DNMT3A (2) 0.07692 1.00000 7.793e-4 1.404e-3 338 Osteochondroma Specific learning disability 1 1 PTPN11 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Latent autoimmune diabetes in adults spinocerebellar ataxia type 2 1 1 ATXN2 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Erythrokeratodermia with ataxia Hereditary corneal dystrophy 1 0 ELOVL4 (1) 0.07692 1.00000 7.793e-4 1.404e-3 Factor vii deficiency Thromboembolism 1 1 F7 (5) 0.07692 1.00000 7.793e-4 1.404e-3 Factor xii deficiency Thromboembolism 1 1 F12 (4) 0.07692 1.00000 7.793e-4 1.404e-3 Familial cylindromatosis Frontotemporal dementia with or without amyotrophic lateral sclerosis 1 1 CYLD (5) 0.07692 1.00000 7.793e-4 1.404e-3 fanconi anemia, complementation group s Periventricular nodular heterotopia 1 1 BRCA1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 FAT4-related neurodevelopmental disorder Periventricular nodular heterotopia 1 1 FAT4 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Folic acid deficiency Megaloblastic anemia 1 1 DHFR (6) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-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 1.404e-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 1.404e-3 119 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 1.404e-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 1.404e-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 1.404e-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 1.404e-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 1.404e-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 1.404e-3 119 Galloway-mowat syndrome nephrotic syndrome, type 18 1 1 NUP133 (7) 0.07692 1.00000 7.793e-4 1.404e-3 20 generalized epilepsy-paroxysmal dyskinesia syndrome Idiopathic generalized epilepsy 1 1 KCNMA1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Coronary thrombosis Glycoprotein vi deficiency 1 0 GP6 (1) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-3 Glycosylphosphatidylinositol biosynthesis defect glycosylphosphatidylinositol biosynthesis defect 21 1 1 PIGU (3) 0.07692 1.00000 7.793e-4 1.404e-3 427 Glycosylphosphatidylinositol biosynthesis defect glycosylphosphatidylinositol biosynthesis defect 17 1 1 PIGH (4) 0.07692 1.00000 7.793e-4 1.404e-3 427 Glycosylphosphatidylinositol biosynthesis defect glycosylphosphatidylinositol biosynthesis defect 18 1 1 PIGS (3) 0.07692 1.00000 7.793e-4 1.404e-3 427 Glycosylphosphatidylinositol biosynthesis defect glycosylphosphatidylinositol biosynthesis defect 15 1 1 GPAA1 (4) 0.07692 1.00000 7.793e-4 1.404e-3 427 Congenital stationary night blindness GPR179-related retinopathy 1 1 GPR179 (4) 0.07692 1.00000 7.793e-4 1.404e-3 160 Frontotemporal dementia with or without amyotrophic lateral sclerosis Multiple familial trichoepithelioma 1 1 CYLD (6) 0.07692 1.00000 7.793e-4 1.404e-3 myasthenic syndrome, congenital, 1b, fast-channel Postsynaptic congenital myasthenic syndrome 1 1 CHRNA1 (4) 0.07692 1.00000 7.793e-4 1.404e-3 5 Ductal carcinoma of breast Myhre syndrome 1 1 SMAD4 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Myofibrillar myopathy myofibrillar myopathy 8 1 1 PYROXD1 (5) 0.07692 1.00000 7.793e-4 1.404e-3 3 Nanophthalmos nanophthalmos 4 1 1 TMEM98 (7) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-3 416 Majewski syndrome nephronophthisis 12 1 1 TTC21B (2) 0.07692 1.00000 7.793e-4 1.404e-3 19 neurodegeneration with brain iron accumulation 4 Urinary system neoplasms 1 1 C19orf12 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Atrioventricular septal defect NR2F2 related multiple congenital anomalies/dysmorphic syndrome 1 1 NR2F2 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital stationary night blindness NYX-related retinopathy 1 1 NYX (3) 0.07692 1.00000 7.793e-4 1.404e-3 160 obsolete Stüve-Wiedemann syndrome Paranoia 1 1 LIFR (2) 0.07692 1.00000 7.793e-4 1.404e-3 Eye neoplasms oculocutaneous albinism type 1 1 1 TYR (2) 0.07692 1.00000 7.793e-4 1.404e-3 Duane retraction syndrome Osteoma cutis 1 0 GNAS (1) 0.07692 1.00000 7.793e-4 1.404e-3 Cachexia lymphoproliferative syndrome 2 1 1 CD27 (2) 0.07692 1.00000 7.793e-4 1.404e-3 43 Maleylacetoacetate isomerase deficiency Vestibular disease 1 1 GSTZ1 (5) 0.07692 1.00000 7.793e-4 1.404e-3 MCM9-related gametogenic failure Ovarian dysgenesis 1 1 MCM9 (4) 0.07692 1.00000 7.793e-4 1.404e-3 familial thoracic aortic aneurysm and aortic dissection meester-loeys syndrome 1 0 BGN (1) 0.07692 1.00000 7.793e-4 1.404e-3 Ear, patella, short stature syndrome meier-gorlin syndrome 2 1 1 ORC4 (3) 0.07692 1.00000 7.793e-4 1.404e-3 175 Ear, patella, short stature syndrome meier-gorlin syndrome 3 1 1 ORC6 (3) 0.07692 1.00000 7.793e-4 1.404e-3 175 Ear, patella, short stature syndrome meier-gorlin syndrome 4 1 1 CDT1 (3) 0.07692 1.00000 7.793e-4 1.404e-3 175 Ear, patella, short stature syndrome meier-gorlin syndrome 6 1 1 GMNN (3) 0.07692 1.00000 7.793e-4 1.404e-3 175 MERTK-related retinopathy Thromboembolism 1 1 MERTK (2) 0.07692 1.00000 7.793e-4 1.404e-3 36 methylmalonic acidemia due to transcobalamin receptor defect Vitamin b deficiency 1 1 CD320 (2) 0.07692 1.00000 7.793e-4 1.404e-3 100 methylmalonic acidemia with homocystinuria, type cblJ Vitamin b deficiency 1 1 ABCD4 (3) 0.07692 1.00000 7.793e-4 1.404e-3 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency Vitamin b deficiency 1 1 MMUT (2) 0.07692 1.00000 7.793e-4 1.404e-3 Megaloblastic anemia methylmalonic aciduria, cblA type 1 1 MMAA (2) 0.07692 1.00000 7.793e-4 1.404e-3 100 methylmalonic aciduria, cblA type Vitamin b deficiency 1 1 MMAA (2) 0.07692 1.00000 7.793e-4 1.404e-3 100 Methylmalonyl-coa mutase deficiency Vitamin b deficiency 1 1 MMUT (2) 0.07692 1.00000 7.793e-4 1.404e-3 Lennox-gastaut syndrome Mowat-wilson syndrome 1 1 ZEB2 (7) 0.07692 1.00000 7.793e-4 1.404e-3 Intestinal neoplasms multiple endocrine neoplasia type 4 1 1 CDKN1B (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital stationary night blindness GRM6-related retinopathy 1 1 GRM6 (4) 0.07692 1.00000 7.793e-4 1.404e-3 160 Groenouw corneal dystrophy Hereditary corneal dystrophy 1 1 TGFBI (3) 0.07692 1.00000 7.793e-4 1.404e-3 Atrioventricular septal defect holt-oram syndrome 1 1 TBX5 (2) 0.07692 1.00000 7.793e-4 1.404e-3 106 17q23.1q23.2 microdeletion syndrome Hydronephrosis 1 1 TBX4 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Amelia Hydronephrosis 1 1 TBX4 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Hyperoxaluria mucopolysaccharidosis type 1 1 1 IDUA (2) 0.07692 1.00000 7.793e-4 1.404e-3 300 Angiofollicular ganglionic hyperplasia Hyperoxaluria 1 1 IL6 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Eye neoplasms Hypertension and brachydactyly syndrome 1 1 PDE3A (2) 0.07692 1.00000 7.793e-4 1.404e-3 Hypophosphatemic rickets Peptic esophagitis 1 0 VDR (1) 0.07692 1.00000 7.793e-4 1.404e-3 Hypophosphatemic rickets Splenic neoplasms 1 1 HRAS (2) 0.07692 1.00000 7.793e-4 1.404e-3 17 Ovarian dysgenesis Ovarian teratoma 1 1 BMP15 (6) 0.07692 1.00000 7.793e-4 1.404e-3 149 Paralysis Ventricular outflow obstruction 1 1 INS (2) 0.07692 1.00000 7.793e-4 1.404e-3 Paranoia pitt-hopkins syndrome 1 1 TCF4 (2) 0.07692 1.00000 7.793e-4 1.404e-3 283 Dopamine transporter deficiency syndrome Paranoia 1 1 SLC6A3 (4) 0.07692 1.00000 7.793e-4 1.404e-3 Paranoia SLC6A3-related dopamine transporter deficiency syndrome 1 1 SLC6A3 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Paranoia Tyrosine kinase 2 deficiency 1 1 TYK2 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Paranoia spermatogenic failure 46 1 1 DNAH8 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Partial deficiency of methylmalonyl-coenzyme a mutase Vitamin b deficiency 1 1 MMUT (2) 0.07692 1.00000 7.793e-4 1.404e-3 Periodic paralysis with transient compartment-like syndrome Thyrotoxic periodic paralysis 1 1 CACNA1S (4) 0.07692 1.00000 7.793e-4 1.404e-3 Periprosthetic osteolysis Ulnar-mammary syndrome 1 1 TBX3 (7) 0.07692 1.00000 7.793e-4 1.404e-3 Periventricular heterotopia with microcephaly, autosomal recessive Periventricular nodular heterotopia 1 1 ARFGEF2 (6) 0.07692 1.00000 7.793e-4 1.404e-3 Periventricular laminar heterotopia Periventricular nodular heterotopia 1 1 ARFGEF2 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Periventricular nodular heterotopia periventricular nodular heterotopia 7 1 1 NEDD4L (6) 0.07692 1.00000 7.793e-4 1.404e-3 Coronary thrombosis platelet-type bleeding disorder 11 1 1 GP6 (2) 0.07692 1.00000 7.793e-4 1.404e-3 414 Hyperoxaluria primary hyperoxaluria type 3 1 1 HOGA1 (7) 0.07692 1.00000 7.793e-4 1.404e-3 300 Prostatic disease Tonic-clonic epilepsy 1 1 OXT (2) 0.07692 1.00000 7.793e-4 1.404e-3 protein S deficiency Thromboembolism 1 1 PROS1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Hypotrichosis simplex Palmoplantar keratoderma and congenital alopecia 1 1 LSS (4) 0.07692 1.00000 7.793e-4 1.404e-3 Idiopathic generalized epilepsy sick sinus syndrome 2, autosomal dominant 1 1 HCN4 (2) 0.07692 1.00000 7.793e-4 1.404e-3 immunodeficiency 114, folate-responsive Megaloblastic anemia 1 1 SLC19A1 (5) 0.07692 1.00000 7.793e-4 1.404e-3 immunodeficiency 60 Latent autoimmune diabetes in adults 1 1 BACH2 (2) 0.07692 1.00000 7.793e-4 1.404e-3 1 Hyperoxaluria immunodeficiency, common variable, 12 1 1 NFKB1 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital nonspherocytic hemolytic anemia inherited glutathione synthetase deficiency 1 1 GSS (3) 0.07692 1.00000 7.793e-4 1.404e-3 12 Frontotemporal dementia with or without amyotrophic lateral sclerosis inherited neurodegenerative disorder 1 1 KIF5A (2) 0.07692 1.00000 7.793e-4 1.404e-3 Hereditary corneal dystrophy inherited prekallikrein deficiency 1 1 KLKB1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Atrioventricular septal defect Intellectual developmental disorder language autism 1 1 FOXP1 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital nonspherocytic hemolytic anemia Intellectual developmental disorder microcephaly cerebellar 1 1 CASK (4) 0.07692 1.00000 7.793e-4 1.404e-3 Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Intestinal neoplasms 1 1 CTNNB1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 81 CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Intestinal neoplasms 1 1 CTNNB1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 81 Brain tumor-polyposis syndrome Intestinal neoplasms 1 1 APC (2) 0.07692 1.00000 7.793e-4 1.404e-3 hemochromatosis type 1 Intestinal obstruction 1 1 HFE (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital idiopathic intestinal pseudoobstruction Intestinal obstruction 1 1 FLNA (5) 0.07692 1.00000 7.793e-4 1.404e-3 42 isolated microphthalmia 6 Nanophthalmos 1 1 PRSS56 (2) 0.07692 1.00000 7.793e-4 1.404e-3 52 Ductal carcinoma of breast juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 1 SMAD4 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Hydronephrosis Kidney atrophy 1 0 C12orf57 (1) 0.07692 1.00000 7.793e-4 1.404e-3 313 Eye neoplasms Temperature-sensitive oculocutaneous albinism 1 1 TYR (3) 0.07692 1.00000 7.793e-4 1.404e-3 Megaloblastic anemia Thiamine-responsive megaloblastic anemia 1 1 SLC19A2 (6) 0.07692 1.00000 7.793e-4 1.404e-3 Lipoma Thiamine-responsive megaloblastic anemia 1 1 SLC19A2 (7) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-3 Cachexia TNF receptor 1-associated periodic fever syndrome 1 1 TNFRSF1A (2) 0.07692 1.00000 7.793e-4 1.404e-3 Tonic-clonic epilepsy Trismus 1 1 BCHE (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital structural myopathy TPM3-related myopathy 1 1 TPM3 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Paralysis Trismus 1 1 BCHE (2) 0.07692 1.00000 7.793e-4 1.404e-3 397 Congenital stationary night blindness TRPM1-related retinopathy 1 1 TRPM1 (3) 0.07692 1.00000 7.793e-4 1.404e-3 160 Congenital nonspherocytic hemolytic anemia Uridine monophosphate hydrolase deficiency 1 1 NT5C3A (3) 0.07692 1.00000 7.793e-4 1.404e-3 12 dyskeratosis congenita, autosomal dominant 2 Urinary system neoplasms 1 1 TERT (2) 0.07692 1.00000 7.793e-4 1.404e-3 Lipoma Uterine benign neoplasm 1 0 BET1L (1) 0.07692 1.00000 7.793e-4 1.404e-3 138 Congenital aneurysm of ascending aorta Vascular ehlers-danlos syndrome 1 1 COL3A1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Megaloblastic anemia Vitamin b12-unresponsive methylmalonic acidemia 1 1 FUT2 (3) 0.07692 1.00000 7.793e-4 1.404e-3 100 Vitamin b deficiency Vitamin b12-unresponsive methylmalonic acidemia 1 1 FUT2 (4) 0.07692 1.00000 7.793e-4 1.404e-3 100 Rothmund-thomson syndrome Wrinkly skin syndrome 1 1 ATP6V0A2 (5) 0.07692 1.00000 7.793e-4 1.404e-3 Hypophosphatemic rickets X-linked dominant hypophosphatemic rickets 1 1 PHEX (5) 0.07692 1.00000 7.793e-4 1.404e-3 Hypophosphatemic rickets X-linked hypophosphatemia 1 1 PHEX (4) 0.07692 1.00000 7.793e-4 1.404e-3 Hypophosphatemic rickets X-linked nephrolithiasis 1 1 CLCN5 (4) 0.07692 1.00000 7.793e-4 1.404e-3 familial thoracic aortic aneurysm and aortic dissection X-linked spondyloepimetaphyseal dysplasia 1 1 BGN (4) 0.07692 1.00000 7.793e-4 1.404e-3 familial thoracic aortic aneurysm and aortic dissection X-linked thoracic aortic aneurysm 1 1 BGN (2) 0.07692 1.00000 7.793e-4 1.404e-3 Intestinal neoplasms xeroderma pigmentosum group A 1 1 XPA (2) 0.07692 1.00000 7.793e-4 1.404e-3 81 Xeroderma pigmentosum xeroderma pigmentosum group A 1 1 XPA (7) 0.07692 1.00000 7.793e-4 1.404e-3 Xeroderma pigmentosum xeroderma pigmentosum group B 1 1 ERCC3 (7) 0.07692 1.00000 7.793e-4 1.404e-3 113 Xeroderma pigmentosum xeroderma pigmentosum group C 1 1 XPC (8) 0.07692 1.00000 7.793e-4 1.404e-3 113 Xeroderma pigmentosum xeroderma pigmentosum group E 1 1 DDB2 (7) 0.07692 1.00000 7.793e-4 1.404e-3 113 Xeroderma pigmentosum xeroderma pigmentosum group F 1 1 ERCC4 (7) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital pes cavus xeroderma pigmentosum group G 1 1 ERCC5 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Xeroderma pigmentosum xeroderma pigmentosum group G 1 1 ERCC5 (6) 0.07692 1.00000 7.793e-4 1.404e-3 113 Xeroderma pigmentosum xeroderma pigmentosum variant type 1 1 POLH (6) 0.07692 1.00000 7.793e-4 1.404e-3 113 Bile duct neoplasms Papilloma 1 0 EGFR (1) 0.07692 1.00000 7.793e-4 1.404e-3 Bilirubin metabolism disease Dihydropyrimidinase deficiency 1 1 DPYS (5) 0.07692 1.00000 7.793e-4 1.404e-3 Blepharophimosis-ptosis-epicanthus inversus syndrome Duane retraction syndrome 1 1 FOXL2 (6) 0.07692 1.00000 7.793e-4 1.404e-3 Bone remodeling disease primary ciliary dyskinesia 7 1 1 DNAH11 (2) 0.07692 1.00000 7.793e-4 1.404e-3 9 Brachydactyly with hypertension Eye neoplasms 1 1 PDE3A (3) 0.07692 1.00000 7.793e-4 1.404e-3 Atrioventricular septal defect Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome 1 1 MEF2C (2) 0.07692 1.00000 7.793e-4 1.404e-3 106 BRCA1-related cancer predisposition Periventricular nodular heterotopia 1 1 BRCA1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Brooke-spiegler syndrome Frontotemporal dementia with or without amyotrophic lateral sclerosis 1 1 CYLD (6) 0.07692 1.00000 7.793e-4 1.404e-3 Butyrylcholinesterase deficiency Tonic-clonic epilepsy 1 1 BCHE (5) 0.07692 1.00000 7.793e-4 1.404e-3 Butyrylcholinesterase deficiency Paralysis 1 1 BCHE (5) 0.07692 1.00000 7.793e-4 1.404e-3 397 CACNA1F-related retinopathy Congenital stationary night blindness 1 1 CACNA1F (3) 0.07692 1.00000 7.793e-4 1.404e-3 Cardiac-urogenital syndrome Nanophthalmos 1 1 MYRF (7) 0.07692 1.00000 7.793e-4 1.404e-3 cardiomyopathy, dilated, 2l Myofibrillar myopathy 1 1 LDB3 (4) 0.07692 1.00000 7.793e-4 1.404e-3 cataract 50 with or without glaucoma Stomach disease 1 1 TRPM3 (2) 0.07692 1.00000 7.793e-4 1.404e-3 122 Cataract-alopecia-sclerodactyly syndrome Hypotrichosis simplex 1 1 LSS (3) 0.07692 1.00000 7.793e-4 1.404e-3 2q37 microdeletion syndrome Diabetes complications 1 1 HDAC4 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Acral self-healing collodion baby Congenital nonbullous ichthyosiform erythroderma 1 1 TGM1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 232 Aland island eye disease Congenital stationary night blindness 1 1 CACNA1F (2) 0.07692 1.00000 7.793e-4 1.404e-3 Alanine-glyoxylate aminotransferase deficiency Hyperoxaluria 1 1 AGXT (8) 0.07692 1.00000 7.793e-4 1.404e-3 300 Alexander disease Trigeminal neuralgia 1 1 GFAP (4) 0.07692 1.00000 7.793e-4 1.404e-3 Alstrom syndrome Fetal akinesia deformation sequence 1 1 ALMS1 (2) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-3 amyotrophic lateral sclerosis, susceptibility to, 24 Majewski syndrome 1 1 NEK1 (2) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-3 Developmental coordination disorder PTEN hamartoma tumor syndrome 1 1 PTEN (2) 0.07692 1.00000 7.793e-4 1.404e-3 Developmental coordination disorder frontotemporal dementia and/or amyotrophic lateral sclerosis 3 1 1 SQSTM1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 amyotrophic lateral sclerosis type 1 Developmental coordination disorder 1 1 SOD1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Ankylosis Developmental coordination disorder 1 1 FGFR2 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Developmental delay with autism spectrum disorder Eye neoplasms 1 1 HERC2 (4) 0.07692 1.00000 7.793e-4 1.404e-3 Developmental delay with behavioral abnormalities Specific learning disability 1 1 ADGRL1 (4) 0.07692 1.00000 7.793e-4 1.404e-3 338 dilated cardiomyopathy 1C Myofibrillar myopathy 1 1 LDB3 (4) 0.07692 1.00000 7.793e-4 1.404e-3 dilated cardiomyopathy 1HH Myofibrillar myopathy 1 1 BAG3 (6) 0.07692 1.00000 7.793e-4 1.404e-3 3 dilated cardiomyopathy 1I Myofibrillar myopathy 1 1 DES (5) 0.07692 1.00000 7.793e-4 1.404e-3 3 Autoimmune musculoskeletal system disorder Disabling pansclerotic morphea of childhood 1 1 STAT4 (4) 0.07692 1.00000 7.793e-4 1.404e-3 1 Distal myotilinopathy Myofibrillar myopathy 1 1 MYOT (4) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-3 175 Dna2-related mitochondrial dna deletion syndrome Rothmund-thomson syndrome 1 1 DNA2 (4) 0.07692 1.00000 7.793e-4 1.404e-3 94 Dominant dystrophic epidermolysis bullosa with absence of skin Duane retraction syndrome 1 1 COL7A1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 252 Dominant dystrophic epidermolysis bullosa, albopapular type Duane retraction syndrome 1 0 COL7A1 (1) 0.07692 1.00000 7.793e-4 1.404e-3 252 Duane retraction syndrome Osteochondroma 1 1 PTPN11 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Duane retraction syndrome Osteolysis, hereditary, of carpal bones with or without nephropathy 1 1 MAFB (7) 0.07692 1.00000 7.793e-4 1.404e-3 Duane retraction syndrome duane retraction syndrome 2 1 1 CHN1 (7) 0.07692 1.00000 7.793e-4 1.404e-3 Ductal carcinoma of breast Esophageal stenosis 1 1 SOD2 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Angina pectoris Dysbiosis 1 0 TLR4 (1) 0.07692 1.00000 7.793e-4 1.404e-3 43 Ear, patella, short stature syndrome meier-gorlin syndrome 7 1 1 CDC45 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Ear, patella, short stature syndrome Trichiasis 1 0 MCM7 (1) 0.07692 1.00000 7.793e-4 1.404e-3 Ear, patella, short stature syndrome meier-gorlin syndrome 5 1 1 CDC6 (3) 0.07692 1.00000 7.793e-4 1.404e-3 175 EEM syndrome Hypotrichosis simplex 1 1 CDH3 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital aneurysm of ascending aorta ehlers-danlos syndrome, vascular type 1 1 COL3A1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 arrhythmogenic right ventricular dysplasia 5 Xeroderma pigmentosum 1 1 TMEM43 (2) 0.07692 1.00000 7.793e-4 1.404e-3 asphyxiating thoracic dystrophy 2 Majewski syndrome 1 1 IFT80 (3) 0.07692 1.00000 7.793e-4 1.404e-3 asphyxiating thoracic dystrophy 3 Majewski syndrome 1 1 DYNC2H1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Ataxia with oculomotor apraxia and hypoalbuminemia Coenzyme q10 deficiency 1 1 APTX (3) 0.07692 1.00000 7.793e-4 1.404e-3 Angina pectoris Autoimmune uveitis 1 1 CXCL8 (2) 0.07692 1.00000 7.793e-4 1.404e-3 43 Autoimmune uveitis Cachexia 1 1 CXCL8 (2) 0.07692 1.00000 7.793e-4 1.404e-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 1.404e-3 autosomal dominant macrothrombocytopenia Frontotemporal dementia with or without amyotrophic lateral sclerosis 1 1 TUBA4A (3) 0.07692 1.00000 7.793e-4 1.404e-3 autosomal recessive cutis laxa type 2A Rothmund-thomson syndrome 1 1 ATP6V0A2 (2) 0.07692 1.00000 7.793e-4 1.404e-3 autosomal recessive cutis laxa type 2B Rothmund-thomson syndrome 1 1 PYCR1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 94 autosomal recessive cutis laxa type 2C Rothmund-thomson syndrome 1 1 ATP6V1E1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 94 autosomal recessive cutis laxa type 2D Rothmund-thomson syndrome 1 1 ATP6V1A (2) 0.07692 1.00000 7.793e-4 1.404e-3 94 Avellino corneal dystrophy Hereditary corneal dystrophy 1 1 TGFBI (2) 0.07692 1.00000 7.793e-4 1.404e-3 Beemer-langer syndrome Majewski syndrome 1 0 IFT80 (1) 0.07692 1.00000 7.793e-4 1.404e-3 Autoimmune musculoskeletal system disorder Benign familial pemphigus 1 1 ATP2C1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Atrioventricular septal defect Congenital mitral valve atresia 1 0 FOXP1 (1) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital muscular hypertrophy-cerebral syndrome Congenital pes cavus 1 1 SMC1A (2) 0.07692 1.00000 7.793e-4 1.404e-3 congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 1 DOK7 (6) 0.07692 1.00000 7.793e-4 1.404e-3 5 congenital myasthenic syndrome 10 Postsynaptic congenital myasthenic syndrome 1 1 DOK7 (3) 0.07692 1.00000 7.793e-4 1.404e-3 5 congenital myasthenic syndrome 17 Postsynaptic congenital myasthenic syndrome 1 1 LRP4 (4) 0.07692 1.00000 7.793e-4 1.404e-3 congenital myasthenic syndrome 2A Postsynaptic congenital myasthenic syndrome 1 1 CHRNB1 (4) 0.07692 1.00000 7.793e-4 1.404e-3 congenital myasthenic syndrome 2C Postsynaptic congenital myasthenic syndrome 1 1 CHRNB1 (4) 0.07692 1.00000 7.793e-4 1.404e-3 congenital myasthenic syndrome 8 Postsynaptic congenital myasthenic syndrome 1 1 AGRN (4) 0.07692 1.00000 7.793e-4 1.404e-3 5 congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 1 MUSK (5) 0.07692 1.00000 7.793e-4 1.404e-3 5 congenital myasthenic syndrome 9 Postsynaptic congenital myasthenic syndrome 1 1 MUSK (4) 0.07692 1.00000 7.793e-4 1.404e-3 5 Congenital prekallikrein deficiency Hereditary corneal dystrophy 1 1 KLKB1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital aneurysm of ascending aorta Congenital primary aphakia 1 1 FOXE3 (5) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital primary aphakia familial thoracic aortic aneurysm and aortic dissection 1 1 FOXE3 (6) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital sensory neuropathy Tonic-clonic epilepsy 1 1 NGF (3) 0.07692 1.00000 7.793e-4 1.404e-3 142 Congenital aneurysm of ascending aorta Connective and soft tissue disorder 1 0 COL3A1 (1) 0.07692 1.00000 7.793e-4 1.404e-3 Cornea plana Hereditary corneal dystrophy 1 1 KERA (5) 0.07692 1.00000 7.793e-4 1.404e-3 Corneal disease Rupture, spontaneous 1 1 COL5A1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Corneal disease pitt-hopkins syndrome 1 1 TCF4 (2) 0.07692 1.00000 7.793e-4 1.404e-3 283 Coronary thrombosis Intellectual developmental disorder with retinitis pigmentosa 1 1 SCAPER (5) 0.07692 1.00000 7.793e-4 1.404e-3 Cardiac tamponade Coronary thrombosis 1 1 PLAT (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital nonspherocytic hemolytic anemia Coronary vessel anomalies 1 1 GCLC (3) 0.07692 1.00000 7.793e-4 1.404e-3 12 Craniofacial anomalies with anterior segment dysgenesis Hereditary corneal dystrophy 1 1 VSX1 (5) 0.07692 1.00000 7.793e-4 1.404e-3 87 Cyp2d6 deficiency Tonic-clonic epilepsy 1 1 CYP2D6 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Colonic disease Specific learning disability 1 0 GHR (1) 0.07692 1.00000 7.793e-4 1.404e-3 combined immunodeficiency due to STIM1 deficiency Congenital structural myopathy 1 1 STIM1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Atrioventricular septal defect Congenital aortic valve atresia 1 0 FOXP1 (1) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital aneurysm of ascending aorta Congenital aphakia 1 0 FOXE3 (1) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital aphakia familial thoracic aortic aneurysm and aortic dissection 1 1 FOXE3 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital cornea plana Hereditary corneal dystrophy 1 1 KERA (2) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital factor vii deficiency Thromboembolism 1 1 F7 (4) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital factor xii deficiency Thromboembolism 1 1 F12 (4) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital generalized hypercontractile muscle stiffness syndrome Congenital structural myopathy 1 1 TPM3 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital hypotrichosis with juvenile macular dystrophy Hypotrichosis simplex 1 1 CDH3 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Hereditary corneal dystrophy 1 1 ELOVL4 (4) 0.07692 1.00000 7.793e-4 1.404e-3 Congenital malformation of cornea Hereditary corneal dystrophy 1 0 KERA (1) 0.07692 1.00000 7.793e-4 1.404e-3 Cerebral atherosclerosis Rin2 syndrome 1 1 RIN2 (5) 0.07692 1.00000 7.793e-4 1.404e-3 Charcot-Marie-Tooth disease type 2D Congenital pes cavus 1 1 GARS1 (2) 0.07692 1.00000 7.793e-4 1.404e-3 13 Charcot-Marie-Tooth disease type 4C Congenital pes cavus 1 1 SH3TC2 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Charcot-Marie-tooth disease, axonal, type 2DD Vestibular disease 1 1 ATP1A1 (3) 0.07692 1.00000 7.793e-4 1.404e-3 Cholecystitis Mucosulfatidosis 1 1 SUMF1 (3) 0.07692 1.00000 7.793e-4 1.404e-3 239 Choroidal neovascularization Diabetes complications 1 1 VEGFA (2) 0.07692 1.00000 7.793e-4 1.404e-3 ciliary dyskinesia, primary, 39 Hypophosphatemic rickets 1 1 LRRC56 (2) 0.07692 1.00000 7.793e-4 1.404e-3 17 ciliopathy-IFT74 Majewski syndrome 1 1 IFT74 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Coenzyme q10 deficiency Deafness, encephaloneuropathy, obesity, valvulopathy syndrome 1 1 PDSS1 (5) 0.07692 1.00000 7.793e-4 1.404e-3 399 Coenzyme q10 deficiency Coq7-related distal hereditary motor neuropathy 1 1 COQ7 (4) 0.07692 1.00000 7.793e-4 1.404e-3 399 coffin-lowry syndrome Specific learning disability 1 1 RPS6KA3 (2) 0.07692 1.00000 7.793e-4 1.404e-3 Kidney disease Nephronophthisis-like nephropathy 2 2 XPNPEP3 (6), SLC41A1 (5) 0.00469 1.00000 7.601e-4 1.404e-3 Atrial flutter Ileocolitis 2 0 PHLDB2 (1), PLCXD2 (1) 0.02273 0.25000 7.497e-4 1.399e-3 Amblyopia Night blindness, congenital stationary 2 1 CACNA1F (3), USH2A (1) 0.04082 0.08000 7.420e-4 1.384e-3 20p12.3 microdeletion syndrome Transposition of the great arteries 1 1 BMP2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 22q11 deletion syndrome Cardiovascular abnormalities 1 1 FGF8 (2) 0.08333 1.00000 7.144e-4 1.333e-3 2q37 microdeletion syndrome Ataxia telangiectasia 1 0 HDAC4 (1) 0.08333 1.00000 7.144e-4 1.333e-3 3-hydroxyacyl-coa dehydrogenase deficiency Hyperinsulinemic hypoglycemia 1 1 HADH (6) 0.08333 1.00000 7.144e-4 1.333e-3 agammaglobulinemia 7, autosomal recessive Diffuse idiopathic skeletal hyperostosis 1 1 PIK3R1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 376 Agnathia-otocephaly Demyelinating diseases 1 1 PRRX1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Alpha-actinopathy Congenital fiber type disproportion myopathy 1 1 ACTA1 (5) 0.08333 1.00000 7.144e-4 1.333e-3 Amish brittle hair brain syndrome Trichothiodystrophy 1 1 RNF113A (6) 0.08333 1.00000 7.144e-4 1.333e-3 113 amyotrophic lateral sclerosis type 22 Macrothrombocytopenia 1 1 TUBA4A (3) 0.08333 1.00000 7.144e-4 1.333e-3 Central precocious puberty Craniofacial deafness hand syndrome 1 1 PAX3 (7) 0.08333 1.00000 7.144e-4 1.333e-3 186 Central serous retinopathy Intellectual developmental disorder seizures cerebellar 1 1 RORA (4) 0.08333 1.00000 7.144e-4 1.333e-3 32 Central serous retinopathy Factor h deficiency 1 1 CFH (2) 0.08333 1.00000 7.144e-4 1.333e-3 32 Central serous retinopathy Genetic hemolytic uremic syndrome 1 1 CFH (2) 0.08333 1.00000 7.144e-4 1.333e-3 32 Central serous retinopathy neuropathy, hereditary sensory and autonomic, type 2A 1 1 WNK1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Cerebellar ataxia with deafness and narcolepsy Deglutition disorder 1 1 DNMT1 (5) 0.08333 1.00000 7.144e-4 1.333e-3 Cerebellar ataxia, deafness, and narcolepsy Deglutition disorder 1 1 DNMT1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Charcot-Marie-Tooth disease axonal type 2N Trichothiodystrophy 1 1 AARS1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Charcot-Marie-Tooth disease type 1A Demyelinating diseases 1 1 PMP22 (3) 0.08333 1.00000 7.144e-4 1.333e-3 382 Childhood apraxia of speech Silver-russell syndrome 1 1 FOXP2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 323 Arthrogryposis childhood-onset nemaline myopathy 1 1 TNNI1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 258 Chromosome 16p13.3 deletion syndrome Hypertrichosis 1 0 CREBBP (1) 0.08333 1.00000 7.144e-4 1.333e-3 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 3 1 1 DNAH5 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Bisphosphoglycerate mutase deficiency Hereditary hemolytic anemia 1 1 BPGM (2) 0.08333 1.00000 7.144e-4 1.333e-3 Bohring-opitz syndrome Hypertrichosis 1 1 ASXL1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Bulbo-spinal atrophy, x-linked Prostatic intraepithelial neoplasia 1 1 AR (2) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-3 56 Cardiogenetic disease Short qt syndrome 1 1 CACNB2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Carnitine deficiency Short qt syndrome 1 1 SLC22A5 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Autoimmune lymphoproliferative disorder Caspase 8 deficiency 1 1 CASP8 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Caspase 8 deficiency Melanocytic nevus 1 1 CASP8 (2) 0.08333 1.00000 7.144e-4 1.333e-3 developmental and epileptic encephalopathy, 29 Trichothiodystrophy 1 1 AARS1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 developmental and epileptic encephalopathy, 80 Hyperphosphatasia with intellectual disability syndrome 1 1 PIGB (2) 0.08333 1.00000 7.144e-4 1.333e-3 355 Developmental delay with facial dysmorphism syndrome Transposition of the great arteries 1 1 MED13L (2) 0.08333 1.00000 7.144e-4 1.333e-3 56 diamond-blackfan anemia 6 Testicular hydrocele 1 1 RPL5 (2) 0.08333 1.00000 7.144e-4 1.333e-3 240 Diffuse idiopathic skeletal hyperostosis Short syndrome 1 1 PIK3R1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 376 Diffuse idiopathic skeletal hyperostosis PIK3R1-related immunodeficiency and SHORT syndrome 1 1 PIK3R1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 376 Diffuse idiopathic skeletal hyperostosis immunodeficiency 122 1 1 POLD3 (2) 0.08333 1.00000 7.144e-4 1.333e-3 376 dilated cardiomyopathy 1W Short qt syndrome 1 1 VCL (2) 0.08333 1.00000 7.144e-4 1.333e-3 Deglutition disorder Distal nebulin myopathy 1 0 NEB (1) 0.08333 1.00000 7.144e-4 1.333e-3 333 Cardiovascular abnormalities Distichiasis-lymphedema syndrome 1 1 FOXC2 (3) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-3 175 Dysbetalipoproteinemia Sleep disorder 1 1 APOE (2) 0.08333 1.00000 7.144e-4 1.333e-3 125 Demyelinating diseases Dysgnathia complex 1 1 PRRX1 (2) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-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 1.333e-3 Combined psap deficiency Retinitis pigmentosa-deafness syndrome 1 1 PSAP (4) 0.08333 1.00000 7.144e-4 1.333e-3 17,20-lyase deficiency Congenital adrenal hyperplasia 1 1 CYP17A1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital adrenal hyperplasia Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital adrenal hyperplasia Dosage-sensitive sex reversal 1 1 NR0B1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital adrenal hyperplasia X-linked adrenal hypoplasia congenita 1 1 NR0B1 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 1 CYP21A2 (5) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital cataract anterior segment dysgenesis syndrome Posterior subcapsular cataract 1 1 PITX3 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital factor vii deficiency Hematuria 1 1 F7 (5) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital fiber type disproportion myopathy Congenital generalized hypercontractile muscle stiffness syndrome 1 1 TPM3 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital hypoplasia of clavicle Posterior subcapsular cataract 1 1 LEMD2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital adrenal hyperplasia Congenital lipoid adrenal hyperplasia 1 1 STAR (4) 0.08333 1.00000 7.144e-4 1.333e-3 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Leopard syndrome 1 1 PPP1R13L (2) 0.08333 1.00000 7.144e-4 1.333e-3 49 Arthrogryposis Dilatation of left cardiac ventricle 1 1 ACTC1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Arthrogryposis dilated cardiomyopathy 1R 1 1 ACTC1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Ataxia telangiectasia Hairy cell leukemia 1 1 BRAF (2) 0.08333 1.00000 7.144e-4 1.333e-3 Ataxia telangiectasia Middle ear cholesteatoma 1 0 IL2 (1) 0.08333 1.00000 7.144e-4 1.333e-3 Ataxia telangiectasia Conjunctival telangiectasis 1 1 ATM (7) 0.08333 1.00000 7.144e-4 1.333e-3 364 Ataxia telangiectasia ATM-related cancer predisposition 1 1 ATM (7) 0.08333 1.00000 7.144e-4 1.333e-3 364 Autoimmune lymphoproliferative disorder autoimmune lymphoproliferative syndrome type 1 1 1 FASLG (6) 0.08333 1.00000 7.144e-4 1.333e-3 Autoimmune lymphoproliferative disorder autoimmune lymphoproliferative syndrome type 2A 1 1 CASP10 (7) 0.08333 1.00000 7.144e-4 1.333e-3 17 Autoimmune lymphoproliferative disorder autoimmune lymphoproliferative syndrome type 2B 1 1 CASP8 (6) 0.08333 1.00000 7.144e-4 1.333e-3 autoimmune lymphoproliferative syndrome type 2B Melanocytic nevus 1 1 CASP8 (2) 0.08333 1.00000 7.144e-4 1.333e-3 autosomal dominant macrothrombocytopenia Macrothrombocytopenia 1 1 TUBA4A (3) 0.08333 1.00000 7.144e-4 1.333e-3 Avoidant restrictive food intake disorder Sleep disorder 1 1 APOE (2) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-3 204 Beta-ureidopropionase deficiency Infantile spasms 1 1 UPB1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 337 congenital myasthenic syndrome 6 Presynaptic congenital myasthenic syndrome 1 1 CHAT (4) 0.08333 1.00000 7.144e-4 1.333e-3 5 congenital myasthenic syndrome 7 Presynaptic congenital myasthenic syndrome 1 1 SYT2 (4) 0.08333 1.00000 7.144e-4 1.333e-3 5 congenital myasthenic syndrome 8 Presynaptic congenital myasthenic syndrome 1 1 AGRN (4) 0.08333 1.00000 7.144e-4 1.333e-3 5 Autoimmune pulmonary alveolar proteinosis Congenital pulmonary artery atresia 1 1 HLA-DRB1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 254 Congenital pulmonary artery atresia Heerfordt syndrome 1 0 HLA-DRB1 (1) 0.08333 1.00000 7.144e-4 1.333e-3 254 Congenitally uncorrected transposition of the great arteries Transposition of the great arteries 1 1 CFC1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 56 Arthrogryposis Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 1 MYH3 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Arthrogryposis Contractures, pterygia, and variable skeletal fusions syndrome 1 1 MYH3 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Copper overload cirrhosis Hyper-ige syndrome 1 1 STAT3 (3) 0.08333 1.00000 7.144e-4 1.333e-3 167 Copper overload cirrhosis Lymphoproliferative disorder of natural killer cells 1 1 STAT3 (3) 0.08333 1.00000 7.144e-4 1.333e-3 167 Copper overload cirrhosis STAT3-related early-onset multisystem autoimmune disease 1 1 STAT3 (3) 0.08333 1.00000 7.144e-4 1.333e-3 167 Copper overload cirrhosis hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 1 STAT3 (3) 0.08333 1.00000 7.144e-4 1.333e-3 167 Coralliform cataract Lamellar cataract 1 1 CRYGD (3) 0.08333 1.00000 7.144e-4 1.333e-3 51 Coronary vessel anomalies Hereditary hemolytic anemia 1 1 GCLC (2) 0.08333 1.00000 7.144e-4 1.333e-3 12 Adrenocortical carcinoma Cushing's disease 1 1 TP53 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Cardiovascular abnormalities Deafness-lymphedema-leukemia syndrome 1 1 GATA2 (4) 0.08333 1.00000 7.144e-4 1.333e-3 126 Deglutition disorder Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1 1 MEGF10 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Deglutition disorder MEGF10-related myopathy 1 1 MEGF10 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Deglutition disorder Dopamine transporter deficiency syndrome 1 1 SLC6A3 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Delayed sleep phase syndrome Sleep disorder 1 1 CRY1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 125 Adrenocortical carcinoma Demyelinating diseases 1 1 TP53 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Choroid plexus carcinoma Demyelinating diseases 1 1 TP53 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Choroid plexus papilloma Demyelinating diseases 1 1 TP53 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Idiopathic basal ganglia calcification Myeloproliferative disease, unclassifiable 1 1 PDGFRB (6) 0.08333 1.00000 7.144e-4 1.333e-3 Idiopathic basal ganglia calcification IFIH1-related type 1 interferonopathy 1 1 IFIH1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 immunodeficiency 114, folate-responsive Transposition of the great arteries 1 1 SLC19A1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 56 Autoimmune lymphoproliferative disorder immunodeficiency 64 1 1 RASGRP1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 17 Ataxia telangiectasia Intracranial germ cell tumor 1 1 BAK1 (2) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-3 Kennedy disease Prostatic intraepithelial neoplasia 1 1 AR (2) 0.08333 1.00000 7.144e-4 1.333e-3 204 Krabbe disease due to saposin A deficiency Retinitis pigmentosa-deafness syndrome 1 1 PSAP (2) 0.08333 1.00000 7.144e-4 1.333e-3 LAMA5-related multisystemic syndrome Presynaptic congenital myasthenic syndrome 1 1 LAMA5 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Short qt syndrome Systemic primary carnitine deficiency 1 1 SLC22A5 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Melanocytic nevus Temperature-sensitive oculocutaneous albinism 1 1 TYR (3) 0.08333 1.00000 7.144e-4 1.333e-3 Macrothrombocytopenia Thrombasthenia-thrombocytopenia 1 1 GFI1B (4) 0.08333 1.00000 7.144e-4 1.333e-3 Short qt syndrome Timothy syndrome 1 1 CACNA1C (7) 0.08333 1.00000 7.144e-4 1.333e-3 Arthrogryposis TPM2-related myopathy 1 1 TPM2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 258 Congenital fiber type disproportion myopathy TPM2-related myopathy 1 1 TPM2 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital fiber type disproportion myopathy TPM3-related myopathy 1 1 TPM3 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Macrothrombocytopenia TPM4-related platelet disorder 1 1 TPM4 (3) 0.08333 1.00000 7.144e-4 1.333e-3 67 Trichorrhexis nodosa syndrome Trichothiodystrophy 1 1 MPLKIP (6) 0.08333 1.00000 7.144e-4 1.333e-3 113 Cardiovascular abnormalities Urinary retention 1 1 EDN1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Retinitis pigmentosa-deafness syndrome Usher syndrome type 2D 1 1 WHRN (2) 0.08333 1.00000 7.144e-4 1.333e-3 Retinitis pigmentosa-deafness syndrome Usher syndrome type 3 1 1 CLRN1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Vitamin b12 deficiency Vitamin b12-unresponsive methylmalonic acidemia 1 1 FUT2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 100 Posterior subcapsular cataract Wormian bones-micrognathia-abnormal dentition-progeroid syndrome 1 1 LEMD2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Trichothiodystrophy xeroderma pigmentosum group B 1 1 ERCC3 (8) 0.08333 1.00000 7.144e-4 1.333e-3 113 Trichothiodystrophy xeroderma pigmentosum group D 1 1 ERCC2 (6) 0.08333 1.00000 7.144e-4 1.333e-3 113 H syndrome Hypertrichosis 1 1 SLC29A3 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Ductal carcinoma Hereditary diffuse gastric and lobular breast cancer syndrome 1 1 CDH1 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Hereditary diffuse gastric and lobular breast cancer syndrome Prostatic intraepithelial neoplasia 1 1 CDH1 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Hereditary hemolytic anemia inherited glutathione synthetase deficiency 1 1 GSS (2) 0.08333 1.00000 7.144e-4 1.333e-3 12 Demyelinating diseases Hereditary neuropathy with liability to pressure palsies 1 1 PMP22 (4) 0.08333 1.00000 7.144e-4 1.333e-3 382 Hermansky-pudlak syndrome hermansky-pudlak syndrome 8 1 1 BLOC1S3 (7) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hermansky-pudlak syndrome Ocular albinism with sensorineural deafness 1 1 AP3D1 (7) 0.08333 1.00000 7.144e-4 1.333e-3 Hermansky-pudlak syndrome hermansky-pudlak syndrome 10 1 1 AP3D1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Hermansky-pudlak syndrome hermansky-pudlak syndrome 2 1 1 AP3B1 (7) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hermansky-pudlak syndrome hermansky-pudlak syndrome 1 1 1 HPS1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hermansky-pudlak syndrome hermansky-pudlak syndrome 11 1 1 BLOC1S5 (6) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hermansky-pudlak syndrome hermansky-pudlak syndrome 3 1 1 HPS3 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Hermansky-pudlak syndrome hermansky-pudlak syndrome 4 1 1 HPS4 (7) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hermansky-pudlak syndrome hermansky-pudlak syndrome 5 1 1 HPS5 (6) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hermansky-pudlak syndrome hermansky-pudlak syndrome 6 1 1 HPS6 (6) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hermansky-pudlak syndrome hermansky-pudlak syndrome 7 1 1 DTNBP1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Hermansky-pudlak syndrome hermansky-pudlak syndrome 9 1 1 BLOC1S6 (6) 0.08333 1.00000 7.144e-4 1.333e-3 178 Hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia with polycystic kidney disease 1 1 PMM2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Hyperinsulinemic hypoglycemia Hyperinsulinism-hyperammonemia syndrome 1 1 GLUD1 (7) 0.08333 1.00000 7.144e-4 1.333e-3 35 Hyperphosphatasia with intellectual disability syndrome Zunich neuroectodermal syndrome 1 1 PIGL (3) 0.08333 1.00000 7.144e-4 1.333e-3 Hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 4 1 1 PGAP3 (7) 0.08333 1.00000 7.144e-4 1.333e-3 355 Hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 1 1 1 PIGV (7) 0.08333 1.00000 7.144e-4 1.333e-3 355 Hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 6 1 1 PIGY (6) 0.08333 1.00000 7.144e-4 1.333e-3 355 Hereditary hemolytic anemia Hyperthermia 1 1 GPX1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Hypertrichosis X-linked congenital generalized hypertrichosis 1 1 SOX3 (3) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-3 Acromegaloid facial appearance syndrome Hypertrichosis 1 1 ABCC9 (3) 0.08333 1.00000 7.144e-4 1.333e-3 234 Arthrogryposis Hypo-akinesia disorder of prenatal onset 1 1 CHRNG (4) 0.08333 1.00000 7.144e-4 1.333e-3 Repolarization syndrome Short qt syndrome 1 0 CACNB2 (1) 0.08333 1.00000 7.144e-4 1.333e-3 Retinitis pigmentosa and erythrocytic microcytosis Sideroblastic anemia 1 1 TRNT1 (5) 0.08333 1.00000 7.144e-4 1.333e-3 Cushing's disease Retractile testis 1 0 GNAI2 (1) 0.08333 1.00000 7.144e-4 1.333e-3 Demyelinating diseases Retrognathia 1 1 PRRX1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Anhydramnios Rhyns syndrome 1 1 TMEM67 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Right isomerism Transposition of the great arteries 1 1 GDF1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 56 Right ventricle hypoplasia Transposition of the great arteries 1 1 BMP2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Growth retardation, developmental delay, and facial dysmorphism Sarcopenia 1 1 FTO (2) 0.08333 1.00000 7.144e-4 1.333e-3 Growth retardation, developmental delay, coarse facies, and early death Sarcopenia 1 1 FTO (3) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital fiber type disproportion myopathy SELENON-related myopathy 1 1 SELENON (4) 0.08333 1.00000 7.144e-4 1.333e-3 Esophageal stenosis Sideroblastic anemia 1 1 SOD2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Sideroblastic anemia X-linked erythropoietic protoporphyria 1 1 ALAS2 (7) 0.08333 1.00000 7.144e-4 1.333e-3 Sideroblastic anemia Spasticity with hyperglycinemia 1 1 GLRX5 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Sideroblastic anemia Sideroblastic anemia with b-cell immunodeficiency 1 1 TRNT1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Silver-russell syndrome silver-russell syndrome 5 1 1 HMGA2 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Deglutition disorder SLC6A3-related dopamine transporter deficiency syndrome 1 1 SLC6A3 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Gastroparesis spermatogenic failure 19 1 1 CFAP43 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital adrenal hyperplasia Steroid 11-beta-monooxygenase deficiency 1 1 CYP11B1 (5) 0.08333 1.00000 7.144e-4 1.333e-3 Bone marrow neoplasms Stomatitis 1 1 CSF3 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Erythrocyte lactate transporter defect Hyperinsulinemic hypoglycemia 1 1 SLC16A1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Factor vii deficiency Hematuria 1 1 F7 (5) 0.08333 1.00000 7.144e-4 1.333e-3 Autoimmune lymphoproliferative disorder FAS-related autoimmune lymphoproliferative immune disorder 1 1 FAS (7) 0.08333 1.00000 7.144e-4 1.333e-3 Fatty acid and ketone body metabolism disorder Hyperinsulinemic hypoglycemia 1 1 SLC16A1 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Fatty acid oxidation and ketone body metabolism disorder Hyperinsulinemic hypoglycemia 1 1 SLC16A1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Cardiovascular abnormalities Gata2 deficiency 1 1 GATA2 (4) 0.08333 1.00000 7.144e-4 1.333e-3 126 Gaucher disease due to saposin C deficiency Retinitis pigmentosa-deafness syndrome 1 1 PSAP (2) 0.08333 1.00000 7.144e-4 1.333e-3 Genetic transient congenital hypothyroidism Idiopathic basal ganglia calcification 1 1 DUOX2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Cushing's disease Glucocorticoid receptor deficiency/resistance 1 1 NR3C1 (5) 0.08333 1.00000 7.144e-4 1.333e-3 leukodystrophy, hypomyelinating, 16 Sleep disorder 1 1 TMEM106B (2) 0.08333 1.00000 7.144e-4 1.333e-3 125 Leukoencephalopathy Trichothiodystrophy 1 1 AARS1 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Copper overload cirrhosis loeys-dietz syndrome 6 1 1 SMAD2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Cardiovascular abnormalities lymphedema-distichiasis syndrome 1 1 FOXC2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Cardiovascular abnormalities Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 1 1 FOXC2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Autoimmune lymphoproliferative disorder lymphoproliferative syndrome 1 1 1 ITK (2) 0.08333 1.00000 7.144e-4 1.333e-3 17 Macrothrombocytopenia macrothrombocytopenia, isolated, 1, autosomal dominant 1 1 TUBB1 (4) 0.08333 1.00000 7.144e-4 1.333e-3 67 Infantile spasms medium chain acyl-coa dehydrogenase deficiency 1 1 ACADM (2) 0.08333 1.00000 7.144e-4 1.333e-3 337 Meier-gorlin syndrome meier-gorlin syndrome 7 1 1 CDC45 (6) 0.08333 1.00000 7.144e-4 1.333e-3 Ankylosis Meier-gorlin syndrome 1 1 FGFR2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Beare-stevenson cutis gyrata syndrome Meier-gorlin syndrome 1 1 FGFR2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Meier-gorlin syndrome meier-gorlin syndrome 2 1 1 ORC4 (6) 0.08333 1.00000 7.144e-4 1.333e-3 175 Meier-gorlin syndrome meier-gorlin syndrome 3 1 1 ORC6 (6) 0.08333 1.00000 7.144e-4 1.333e-3 175 Meier-gorlin syndrome meier-gorlin syndrome 4 1 1 CDT1 (7) 0.08333 1.00000 7.144e-4 1.333e-3 175 Meier-gorlin syndrome meier-gorlin syndrome 5 1 1 CDC6 (6) 0.08333 1.00000 7.144e-4 1.333e-3 175 Meier-gorlin syndrome meier-gorlin syndrome 6 1 1 GMNN (6) 0.08333 1.00000 7.144e-4 1.333e-3 175 Ductal carcinoma Merkel cell carcinoma 1 0 MYC (1) 0.08333 1.00000 7.144e-4 1.333e-3 Demyelinating diseases Merkel cell carcinoma 1 1 MYC (2) 0.08333 1.00000 7.144e-4 1.333e-3 382 Demyelinating diseases methionine adenosyltransferase deficiency 1 1 MAT1A (3) 0.08333 1.00000 7.144e-4 1.333e-3 methylmalonic acidemia due to transcobalamin receptor defect Vitamin b12 deficiency 1 1 CD320 (2) 0.08333 1.00000 7.144e-4 1.333e-3 100 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency Vitamin b12 deficiency 1 1 MMUT (2) 0.08333 1.00000 7.144e-4 1.333e-3 methylmalonic aciduria, cblA type Vitamin b12 deficiency 1 1 MMAA (2) 0.08333 1.00000 7.144e-4 1.333e-3 100 Methylmalonyl-coa mutase deficiency Vitamin b12 deficiency 1 1 MMUT (2) 0.08333 1.00000 7.144e-4 1.333e-3 Microstomia Posterior subcapsular cataract 1 1 LEMD2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Mosaic variegated aneuploidy mosaic variegated aneuploidy syndrome 2 1 1 CEP57 (7) 0.08333 1.00000 7.144e-4 1.333e-3 Mosaic variegated aneuploidy mosaic variegated aneuploidy syndrome 1 1 1 BUB1B (7) 0.08333 1.00000 7.144e-4 1.333e-3 Hypertrichosis mucopolysaccharidosis type 3B 1 1 NAGLU (2) 0.08333 1.00000 7.144e-4 1.333e-3 multiple endocrine neoplasia type 4 Prostatic intraepithelial neoplasia 1 1 CDKN1B (2) 0.08333 1.00000 7.144e-4 1.333e-3 Autoimmune lymphoproliferative disorder multisystemic smooth muscle dysfunction syndrome 1 1 ACTA2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 17 Copper overload cirrhosis multisystemic smooth muscle dysfunction syndrome 1 1 ACTA2 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital fiber type disproportion myopathy myopathy, centronuclear, 6, with fiber-type disproportion 1 1 MAP3K20 (4) 0.08333 1.00000 7.144e-4 1.333e-3 Hematuria nail-patella syndrome 1 1 LMX1B (3) 0.08333 1.00000 7.144e-4 1.333e-3 Infantile spasms nail-patella syndrome 1 1 LMX1B (2) 0.08333 1.00000 7.144e-4 1.333e-3 Deglutition disorder Nebulin-related myopathy 1 1 NEB (3) 0.08333 1.00000 7.144e-4 1.333e-3 333 Deglutition disorder nemaline myopathy 2 1 1 NEB (2) 0.08333 1.00000 7.144e-4 1.333e-3 333 Cardiovascular abnormalities nephronophthisis 16 1 1 ANKS6 (3) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-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 1.333e-3 Ductal carcinoma neurodevelopmental disorder with microcephaly and dysmorphic facies 1 1 SPOP (2) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-3 neuronopathy, distal hereditary motor, type 7A Presynaptic congenital myasthenic syndrome 1 1 SLC5A7 (4) 0.08333 1.00000 7.144e-4 1.333e-3 5 nijmegen breakage syndrome Stomatitis 1 1 NBN (3) 0.08333 1.00000 7.144e-4 1.333e-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 1.333e-3 Melanocytic nevus oculocutaneous albinism type 1 1 1 TYR (2) 0.08333 1.00000 7.144e-4 1.333e-3 Copper overload cirrhosis Osteofibrous dysplasia 1 1 MET (5) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital fiber type disproportion myopathy Zebra body myopathy 1 1 ACTA1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 Congenital adrenal hyperplasia P450 oxidoreductase deficiency 1 1 POR (5) 0.08333 1.00000 7.144e-4 1.333e-3 Copper overload cirrhosis papillary renal cell carcinoma 1 1 MET (3) 0.08333 1.00000 7.144e-4 1.333e-3 Partial androgen insensitivity syndrome Prostatic intraepithelial neoplasia 1 1 AR (4) 0.08333 1.00000 7.144e-4 1.333e-3 204 Partial deficiency of methylmalonyl-coenzyme a mutase Vitamin b12 deficiency 1 1 MMUT (2) 0.08333 1.00000 7.144e-4 1.333e-3 Melanocytic nevus PLA2G6-associated neurodegeneration 1 1 PLA2G6 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Macrothrombocytopenia platelet-type bleeding disorder 15 1 1 ACTN1 (3) 0.08333 1.00000 7.144e-4 1.333e-3 67 Macrothrombocytopenia platelet-type bleeding disorder 17 1 1 GFI1B (4) 0.08333 1.00000 7.144e-4 1.333e-3 Macrothrombocytopenia platelet-type von Willebrand disease 1 1 GP1BA (3) 0.08333 1.00000 7.144e-4 1.333e-3 Hyperinsulinemic hypoglycemia PMM2-congenital disorder of glycosylation 1 1 PMM2 (2) 0.08333 1.00000 7.144e-4 1.333e-3 Cutaneous lupus erythematosus poirier-bienvenu neurodevelopmental syndrome 1 1 CSNK2B (2) 0.08333 1.00000 7.144e-4 1.333e-3 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 1 1 1 DNAI1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 11 1 1 RSPH4A (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 15 1 1 CCDC40 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 17 1 1 DNAAF19 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 2 1 1 DNAAF3 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 21 1 1 DRC1 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 25 1 1 DNAAF4 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 30 1 1 ODAD3 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Ciliary dyskinesia, with or without situs inversus primary ciliary dyskinesia 7 1 1 DNAH11 (2) 0.08333 1.00000 7.144e-4 1.333e-3 9 Prostatic intraepithelial neoplasia PTEN hamartoma tumor syndrome 1 1 PTEN (2) 0.08333 1.00000 7.144e-4 1.333e-3 Ataxia Duchenne muscular dystrophy 2 2 DMD (5), SNCA (2) 0.04082 0.09524 7.034e-4 1.333e-3 Bell's palsy Diffuse idiopathic skeletal hyperostosis 2 0 CDC5L (1), SUPT3H (1) 0.03030 0.18182 6.996e-4 1.333e-3 Retinopathy of prematurity Spondylosis 2 1 PTPRD (1), HLA-B (2) 0.04082 0.10000 6.822e-4 1.301e-3 Generalized anxiety disorder Renal agenesis 2 2 BLTP1 (2), FRAS1 (2) 0.03704 0.13333 6.763e-4 1.290e-3 Ovarian cysts Primary angle closure glaucoma 2 2 COL11A1 (2), SFRP4 (2) 0.03922 0.11765 6.682e-4 1.275e-3 Cardiac embolism Periprosthetic osteolysis 2 0 GLIS3 (1), RGS5 (1) 0.03279 0.16667 6.680e-4 1.274e-3 Bilateral microphthalmos Hallermanns syndrome 1 0 GJA1 (1) 0.14286 0.50000 6.494e-4 1.239e-3 107 Bilateral microphthalmos Schwartz-lelek syndrome 1 0 GJA1 (1) 0.14286 0.50000 6.494e-4 1.239e-3 Birdshot chorioretinopathy Parapsoriasis 1 1 HLA-A (3) 0.14286 0.50000 6.494e-4 1.239e-3 179 Blepharitis Respiratory system neoplasm 1 0 MC1R (1) 0.14286 0.50000 6.494e-4 1.239e-3 1 Blepharophimosis intellectual disability syndrome Intellectual developmental disorder speech dysmorphic 1 1 SMARCA2 (3) 0.14286 0.50000 6.494e-4 1.239e-3 Bloom syndrome Dysfibrinogenemia 1 1 UNG (2) 0.14286 0.50000 6.494e-4 1.239e-3 Boichis syndrome Coach syndrome 1 1 TMEM67 (5) 0.14286 0.50000 6.494e-4 1.239e-3 315 Bronchiolitis obliterans Polymyalgia rheumatica 1 0 MBL2 (1) 0.14286 0.50000 6.494e-4 1.239e-3 Bronchus cancer Cri-du-chat syndrome 1 1 TERT (3) 0.14286 0.50000 6.494e-4 1.239e-3 Calcium pyrophosphate deposition Paget disease 1 1 TNFRSF11B (3) 0.14286 0.50000 6.494e-4 1.239e-3 Capillary leak syndrome Constipation 1 1 PON1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Capillary leak syndrome Hematologic neoplasms 1 1 PON1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Cardiofacial dysplasia Male breast carcinoma 1 1 PRKACB (4) 0.14286 0.50000 6.494e-4 1.239e-3 38 Arthralgia Disseminated superficial actinic porokeratosis 1 1 MVK (2) 0.14286 0.50000 6.494e-4 1.239e-3 Ataxia with oculomotor apraxia Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts 1 1 LAMA1 (4) 0.14286 0.50000 6.494e-4 1.239e-3 Ataxia with oculomotor apraxia Dna repair-deficiency disorders 1 1 PNKP (6) 0.14286 0.50000 6.494e-4 1.239e-3 Auditory perceptual disorder Polymorphous corneal dystrophy 1 1 VSX1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 87 Auditory perceptual disorder Posterior polymorphous corneal dystrophy 1 1 VSX1 (5) 0.14286 0.50000 6.494e-4 1.239e-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 1.239e-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 1.239e-3 97 17p13.3 microduplication syndrome Endometrial stromal sarcoma 1 1 YWHAE (2) 0.14286 0.50000 6.494e-4 1.239e-3 225 Acetyl-coa acetyltransferase deficiency Carbohydrate metabolism disorder 1 1 ACAT1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Acid-base disorder Respiratory system neoplasm 1 0 ADH1B (1) 0.14286 0.50000 6.494e-4 1.239e-3 Andersen-tawil syndrome Congenital short qt syndrome 1 1 KCNJ2 (5) 0.14286 0.50000 6.494e-4 1.239e-3 Angiocentric glioma Hemoglobin e disease 1 1 MYB (2) 0.14286 0.50000 6.494e-4 1.239e-3 18 Angiomatoid fibrous histiocytoma Ewing sarcoma 1 1 EWSR1 (3) 0.14286 0.50000 6.494e-4 1.239e-3 Angiomatoid fibrous histiocytoma Extraskeletal myxoid chondrosarcoma 1 0 EWSR1 (1) 0.14286 0.50000 6.494e-4 1.239e-3 Angiomatoid fibrous histiocytoma Skeletal ewing sarcoma 1 0 EWSR1 (1) 0.14286 0.50000 6.494e-4 1.239e-3 Cerebellar malformation Coach syndrome 1 1 TMEM67 (5) 0.14286 0.50000 6.494e-4 1.239e-3 315 Cerebral saccular aneurysm juvenile polyposis syndrome 1 1 ENG (3) 0.14286 0.50000 6.494e-4 1.239e-3 Chediak-higashi syndrome Facioscapulohumeral muscular dystrophy 1 1 SMCHD1 (5) 0.14286 0.50000 6.494e-4 1.239e-3 324 Childhood-onset spinal muscular atrophy Rhizomelic chondrodysplasia punctata 1 1 DYNC1H1 (3) 0.14286 0.50000 6.494e-4 1.239e-3 Cholesteatoma Vaginal neoplasms 1 1 IL2 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Cholesteatoma Coagulation factor deficiency syndrome 1 0 F13B (1) 0.14286 0.50000 6.494e-4 1.239e-3 354 Cholesteatoma Congenital factor xiii deficiency 1 1 F13B (3) 0.14286 0.50000 6.494e-4 1.239e-3 354 Cholesteatoma Factor xiii deficiency 1 1 F13B (6) 0.14286 0.50000 6.494e-4 1.239e-3 354 Chorioretinal atrophy Choroideremia 1 1 CHM (7) 0.14286 0.50000 6.494e-4 1.239e-3 Choroidal dystrophy Choroideremia 1 1 PRPH2 (5) 0.14286 0.50000 6.494e-4 1.239e-3 69 Choroidal sclerosis Choroideremia 1 0 PRPH2 (1) 0.14286 0.50000 6.494e-4 1.239e-3 69 Diabetes macrovascular complications Factor v deficiency 1 1 F5 (5) 0.14286 0.50000 6.494e-4 1.239e-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 1.239e-3 Cyanosis Dihydrolipoamide dehydrogenase deficiency 1 1 CYB5R3 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Disseminated superficial actinic porokeratosis Mevalonate kinase deficiency 1 1 MVK (3) 0.14286 0.50000 6.494e-4 1.239e-3 Dopamine beta-hydroxy­lase deficiency Hematologic neoplasms 1 1 HSPA5 (2) 0.14286 0.50000 6.494e-4 1.239e-3 120 Duane-radial ray syndrome Oculopalatosekeletal syndrome 1 1 SALL4 (6) 0.14286 0.50000 6.494e-4 1.239e-3 Central areolar choroidal dystrophy Dyschromatopsia 1 0 EYS (1) 0.14286 0.50000 6.494e-4 1.239e-3 Dyshidrosis Sweat gland disease 1 0 TCERG1L (1) 0.14286 0.50000 6.494e-4 1.239e-3 340 Dysphonia Paroxysmal dyskinesia 1 1 COMT (2) 0.14286 0.50000 6.494e-4 1.239e-3 Dysphonia Ptosis 1 0 TWNK (1) 0.14286 0.50000 6.494e-4 1.239e-3 Congenital neck anomaly Congenital nemaline myopathy 1 1 NEB (3) 0.14286 0.50000 6.494e-4 1.239e-3 Congenital ptosis Intellectual developmental disorder autism dysmorphic 1 1 CHD8 (4) 0.14286 0.50000 6.494e-4 1.239e-3 280 Cataract-intellectual disability-hypogonadism syndrome Congenital ptosis 1 1 RAB3GAP1 (3) 0.14286 0.50000 6.494e-4 1.239e-3 Congenital short qt syndrome Haploinsufficiency 1 1 KCNH2 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Congenital diarrhea Congenital sodium diarrhea 1 1 GUCY2C (4) 0.14286 0.50000 6.494e-4 1.239e-3 275 Congenital stenosis of aortic valve Isolated systolic hypertension 1 0 APOB (1) 0.14286 0.50000 6.494e-4 1.239e-3 201 Cri-du-chat syndrome Respiratory system cancer 1 1 TERT (3) 0.14286 0.50000 6.494e-4 1.239e-3 Autoimmune hemolytic anemia Degenerative polyarthritis 1 0 TLR8 (1) 0.14286 0.50000 6.494e-4 1.239e-3 330 Chilblain lupus erythematosus Deoxyguanosine kinase deficiency 1 1 SAMHD1 (5) 0.14286 0.50000 6.494e-4 1.239e-3 159 Colobomatous optic disc macular atrophy chorioretinopathy syndrome Retinoschisis 1 1 C14orf39 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Colonic polyps Immune system disorder 1 1 TRPM7 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Cone-rod synaptic disorder Ocular albinism 1 1 CABP4 (4) 0.14286 0.50000 6.494e-4 1.239e-3 384 Congenital diarrhea Congenital epithelial dysplasia of intestine 1 1 EPCAM (3) 0.14286 0.50000 6.494e-4 1.239e-3 Congenital hereditary endothelial dystrophy Polymorphous corneal dystrophy 1 1 OVOL2 (2) 0.14286 0.50000 6.494e-4 1.239e-3 87 Congenital hereditary endothelial dystrophy Posterior polymorphous corneal dystrophy 1 1 OVOL2 (4) 0.14286 0.50000 6.494e-4 1.239e-3 87 Congenital isolated growth hormone deficiency Growth hormone-secreting pituitary adenoma 1 1 GH1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Congenital mesoblastic nephroma Thrombocytopenia with normal platelets 1 1 ETV6 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Congenital mesoblastic nephroma Hematologic neoplasms 1 1 ETV6 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Paget disease Welander distal myopathy 1 1 SQSTM1 (4) 0.14286 0.50000 6.494e-4 1.239e-3 Hyperkalemia Paresthesia 1 1 INS (2) 0.14286 0.50000 6.494e-4 1.239e-3 Immune system disorder Parkinson-dementia complex of guam 1 1 TRPM7 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Arachnodactyly Perisylvian polymicrogyria 1 0 NSDHL (1) 0.14286 0.50000 6.494e-4 1.239e-3 398 Growth hormone-secreting pituitary adenoma Pituitary gigantism 1 1 AIP (2) 0.14286 0.50000 6.494e-4 1.239e-3 235 Post-operative atrial fibrillation Usher syndrome type 2 1 1 ADGRV1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Desmoplastic small round cell tumor Ewing sarcoma 1 1 EWSR1 (3) 0.14286 0.50000 6.494e-4 1.239e-3 Desmoplastic small round cell tumor Extraskeletal myxoid chondrosarcoma 1 0 EWSR1 (1) 0.14286 0.50000 6.494e-4 1.239e-3 46,xx sex reversal Genetic panhypopituitarism 1 1 SOX3 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Autoimmune hemolytic anemia Haploinsufficiency 1 0 CTLA4 (1) 0.14286 0.50000 6.494e-4 1.239e-3 Familial mediterranean fever Hematologic neoplasms 1 1 ABCB1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 120 Hemiplegia Paroxysmal ventricular fibrillation 1 1 DPP6 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Benign neonatal-infantile seizures Hemiplegia 1 1 SCN2A (2) 0.14286 0.50000 6.494e-4 1.239e-3 213 Hemiplegia Woodhouse sakati syndrome 1 1 METTL8 (2) 0.14286 0.50000 6.494e-4 1.239e-3 213 Ectopic rhythm Hereditary ataxia 1 1 KCND3 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Hereditary hyperekplexia Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1 1 GPHN (3) 0.14286 0.50000 6.494e-4 1.239e-3 322 Dilatation of pulmonary artery Hyperandrogenism 1 1 BMPR2 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Hyperekplexia Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1 1 GPHN (3) 0.14286 0.50000 6.494e-4 1.239e-3 322 Intestinal hypomagnesemia Magnesium metabolism disorder 1 1 TRPM6 (3) 0.14286 0.50000 6.494e-4 1.239e-3 359 Congenital short qt syndrome Jervell and lange-nielsen syndrome 1 1 KCNQ1 (7) 0.14286 0.50000 6.494e-4 1.239e-3 Cantu syndrome Kleefstra syndrome 1 1 ABCC9 (4) 0.14286 0.50000 6.494e-4 1.239e-3 234 Bronchus cancer Large cell carcinoma 1 1 CYP2A6 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Large cell carcinoma Respiratory system cancer 1 1 CYP2A6 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Commissural facial cleft Teebi syndrome 1 1 SPECC1L (5) 0.14286 0.50000 6.494e-4 1.239e-3 12q14 microdeletion syndrome Tietz syndrome 1 1 LEMD3 (3) 0.14286 0.50000 6.494e-4 1.239e-3 143 Hyperuricemic nephropathy Tonne-kalscheuer syndrome 1 1 REN (2) 0.14286 0.50000 6.494e-4 1.239e-3 Hyperkalemia Urinary bladder diseases 1 1 INS (2) 0.14286 0.50000 6.494e-4 1.239e-3 224 22q13 monosomy syndrome Urinary bladder diseases 1 1 INS (2) 0.14286 0.50000 6.494e-4 1.239e-3 224 Common arterial trunk with aortic dominance Velocardiofacial syndrome 1 1 TBX1 (4) 0.14286 0.50000 6.494e-4 1.239e-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 1.239e-3 290 Arachnodactyly Visual system disorder 1 1 EFEMP1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Telomere syndrome X-linked dyskeratosis congenita 1 0 RTEL1 (1) 0.14286 0.50000 6.494e-4 1.239e-3 Ocular albinism X-linked ocular abinism 1 1 GPR143 (5) 0.14286 0.50000 6.494e-4 1.239e-3 Xeroderma pigmentosum-cockayne syndrome Xfe progeroid syndrome 1 1 ERCC4 (6) 0.14286 0.50000 6.494e-4 1.239e-3 qualitative platelet defect Tietz syndrome 1 1 ABCC4 (2) 0.14286 0.50000 6.494e-4 1.239e-3 143 Refsum disease Rhizomelic chondrodysplasia punctata 1 1 PEX7 (7) 0.14286 0.50000 6.494e-4 1.239e-3 Nephrotic syndrome, focal segmental type Renal hypoplasia 1 0 PAX2 (1) 0.14286 0.50000 6.494e-4 1.239e-3 Autoimmune pancreatitis Respiratory system neoplasm 1 1 HLA-DQB1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 1 Respiratory system neoplasm Tongue cancer 1 0 HLA-DQB1 (1) 0.14286 0.50000 6.494e-4 1.239e-3 1 Respiratory system neoplasm Wernicke-korsakoff syndrome 1 1 ADH1B (2) 0.14286 0.50000 6.494e-4 1.239e-3 Retinal cone dystrophy Vitreoretinochoroidopathy 1 1 BEST1 (5) 0.14286 0.50000 6.494e-4 1.239e-3 Choroidal dystrophy Retinal cone dystrophy 1 1 GUCY2D (4) 0.14286 0.50000 6.494e-4 1.239e-3 69 Paroxysmal dyskinesia Seizures, tonic-clonic, photosensitive 1 1 KCNJ10 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Coach syndrome Senior-boichis syndrome 1 1 TMEM67 (6) 0.14286 0.50000 6.494e-4 1.239e-3 315 Littles disease Seizures, tonic-clonic, photosensitive 1 1 KCNJ10 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Immune system disorder macrothrombocytopenia, isolated 1 1 TRPM7 (2) 0.14286 0.50000 6.494e-4 1.239e-3 macrothrombocytopenia, isolated Vacuolar myopathy 1 1 GNE (2) 0.14286 0.50000 6.494e-4 1.239e-3 Butterfly-shaped pigmentary macular dystrophy Malignant peripheral nerve sheath tumor 1 1 HTRA1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Butterfly-shaped pigmentary macular dystrophy Malignant triton tumor 1 1 HTRA1 (2) 0.14286 0.50000 6.494e-4 1.239e-3 Deletion 5q35 syndrome Myotonic dystrophy 1 1 NKX2-5 (2) 0.14286 0.50000 6.494e-4 1.239e-3 166 Congenital asplenia Myotonic dystrophy 1 1 NKX2-5 (3) 0.14286 0.50000 6.494e-4 1.239e-3 166 Neural tube defects, susceptibility to Sacral defect 1 1 VANGL1 (5) 0.14286 0.50000 6.494e-4 1.239e-3 109 Normal pressure hydrocephalus Ptosis 1 0 PMPCA (1) 0.14286 0.50000 6.494e-4 1.239e-3 158 Cone-rod dystrophy, x-linked Ocular albinism 1 1 CACNA1F (3) 0.14286 0.50000 6.494e-4 1.239e-3 Oculoauricular syndrome Oculopalatosekeletal syndrome 1 1 FADD (3) 0.14286 0.50000 6.494e-4 1.239e-3 Oculopharyngeal muscular dystrophy Vacuolar myopathy 1 1 HNRNPA2B1 (4) 0.14286 0.50000 6.494e-4 1.239e-3 Ectrodactyly myopathy, centronuclear, 6, with fiber-type disproportion 1 1 MAP3K20 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Childhood absence epilepsy Nasal obstruction 1 1 NPY (2) 0.09091 1.00000 6.494e-4 1.239e-3 Neonatal anemia Spherocytosis 1 1 SPTB (3) 0.09091 1.00000 6.494e-4 1.239e-3 271 Angelman syndrome oculocutaneous albinism type 2 1 1 OCA2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Omenn syndrome T-B+ severe combined immunodeficiency due to gamma chain deficiency 1 1 IL2RG (4) 0.09091 1.00000 6.494e-4 1.239e-3 Goldenhar syndrome T-cell immunodeficiency 1 1 FOXI3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Dwarfism Tatton-Brown-Rahman overgrowth syndrome 1 1 DNMT3A (3) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly TCF12-related craniosynostosis 1 1 TCF12 (2) 0.09091 1.00000 6.494e-4 1.239e-3 250 Swyer syndrome Testicular regression syndrome 1 0 DHX37 (1) 0.09091 1.00000 6.494e-4 1.239e-3 149 Iron deficiency anemia TFRC-related combined immunodeficiency 1 1 TFRC (3) 0.09091 1.00000 6.494e-4 1.239e-3 245 Myelomonocytic leukemia thrombocytopenia 5 1 1 ETV6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Cataract-corneal dystrophy syndrome Tooth abnormalities 1 1 PAX6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 PAX6-related ocular dysgenesis Tooth abnormalities 1 1 PAX6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Ring dermoid of cornea Tooth abnormalities 1 1 PITX2 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Carbohydrate metabolism disease Transaldolase deficiency 1 1 TALDO1 (6) 0.09091 1.00000 6.494e-4 1.239e-3 371 Hypertensive heart disease Trichomegaly 1 1 FGF5 (5) 0.09091 1.00000 6.494e-4 1.239e-3 313 Chromosome 8p23.1 monosomy Tricuspid valve disease 1 0 GATA4 (1) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital pulmonary valve atresia Tricuspid valve disease 1 0 GATA4 (1) 0.09091 1.00000 6.494e-4 1.239e-3 Martsolf syndrome TUBB3-related tubulinopathy 1 1 TUBB3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly Turricephaly 1 0 ZIC1 (1) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly TWIST1-related craniosynostosis 1 1 TWIST1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 250 Delirium Tyrosine hydroxylase deficiency 1 1 TH (3) 0.09091 1.00000 6.494e-4 1.239e-3 Tooth abnormalities Ulnar-mammary syndrome 1 1 TBX3 (6) 0.09091 1.00000 6.494e-4 1.239e-3 344 Headache Vitamin e deficiency 1 1 TTPA (4) 0.09091 1.00000 6.494e-4 1.239e-3 Tricuspid valve disease Waardenburg syndrome type 4B 1 1 EDN3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Septo-optic dysplasia Webb-dattani syndrome 1 1 ARNT2 (6) 0.09091 1.00000 6.494e-4 1.239e-3 273 Perisylvian syndrome Wolfram-like syndrome 1 1 WFS1 (7) 0.09091 1.00000 6.494e-4 1.239e-3 Swyer syndrome X-linked adrenal hypoplasia congenita 1 1 NR0B1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Septo-optic dysplasia X-linked congenital generalized hypertrichosis 1 1 SOX3 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Vascular system injury X-linked distal spinal muscular atrophy 1 1 ATP7A (5) 0.09091 1.00000 6.494e-4 1.239e-3 Porphyria X-linked erythropoietic protoporphyria 1 1 ALAS2 (5) 0.09091 1.00000 6.494e-4 1.239e-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 1.239e-3 68 Deafness, x-linked X-linked hereditary sensory and autonomic neuropathy with deafness 1 1 AIFM1 (7) 0.09091 1.00000 6.494e-4 1.239e-3 Omenn syndrome X-linked severe combined immunodeficiency 1 1 IL2RG (4) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital skin anomaly xeroderma pigmentosum group D 1 1 ERCC2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Skin abnormalities xeroderma pigmentosum group D 1 1 ERCC2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Growth hormone deficiency with pituitary anomalies Septo-optic dysplasia 1 1 HESX1 (5) 0.09091 1.00000 6.494e-4 1.239e-3 273 dyskeratosis congenita, autosomal dominant 2 Head and neck cancer 1 1 TERT (2) 0.09091 1.00000 6.494e-4 1.239e-3 1 Angiofollicular ganglionic hyperplasia Headache 1 1 IL6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 248 Angiolymphoid hyperplasia Headache 1 1 IL6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 248 Castleman disease Headache 1 0 IL6 (1) 0.09091 1.00000 6.494e-4 1.239e-3 248 Deafness, x-linked hearing loss, X-linked 6 1 1 COL4A6 (4) 0.09091 1.00000 6.494e-4 1.239e-3 hearing loss, X-linked 6 Leiomyoma 1 1 COL4A6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 91 Heme oxygenase deficiency Vascular system injury 1 1 HMOX1 (7) 0.09091 1.00000 6.494e-4 1.239e-3 194 Hengel maroofian schols syndrome Ureterolithiasis 1 1 BCAS3 (4) 0.09091 1.00000 6.494e-4 1.239e-3 Hepatoerythropoietic porphyria Porphyria 1 1 UROD (6) 0.09091 1.00000 6.494e-4 1.239e-3 hereditary spherocytosis Spherocytosis 1 1 ANK1 (4) 0.09091 1.00000 6.494e-4 1.239e-3 271 Deep vein thrombosis hereditary thrombophilia due to congenital protein C deficiency 1 1 PROC (2) 0.09091 1.00000 6.494e-4 1.239e-3 Dwarfism heyn-sproul-jackson syndrome 1 1 DNMT3A (3) 0.09091 1.00000 6.494e-4 1.239e-3 hyperinsulinemic hypoglycemia, familial, 2 monogenic diabetes 1 0 KCNJ11 (1) 0.09091 1.00000 6.494e-4 1.239e-3 Hyperthermia Iron deficiency anemia 1 1 GPX1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 245 Hypochromic anemia Iron deficiency anemia 1 1 SLC11A2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 hypogonadotropic hypogonadism 1 with or without anosmia Martsolf syndrome 1 1 ANOS1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 hypogonadotropic hypogonadism 3 with or without anosmia Septo-optic dysplasia 1 1 PROKR2 (4) 0.09091 1.00000 6.494e-4 1.239e-3 273 hypoinsulinemic hypoglycemia and body hemihypertrophy Partial lipodystrophy 1 1 AKT2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Hypophosphatasia Ureterolithiasis 1 1 ALPL (3) 0.09091 1.00000 6.494e-4 1.239e-3 Other specified diabetes mellitus with unspecified complications Perisylvian syndrome 1 0 WFS1 (1) 0.09091 1.00000 6.494e-4 1.239e-3 monogenic diabetes pancreatic agenesis 1 1 0 PDX1 (1) 0.09091 1.00000 6.494e-4 1.239e-3 Paraneoplastic syndrome Porphyria 1 1 EPO (2) 0.09091 1.00000 6.494e-4 1.239e-3 Perinatal disease Serum bilirubin level 1 1 UGT1A1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Perinatal hemolytic anemia Spherocytosis 1 1 SPTB (3) 0.09091 1.00000 6.494e-4 1.239e-3 271 11p partial monosomy syndrome Peritoneal neoplasms 1 1 WT1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 86 Denys drash syndrome Peritoneal neoplasms 1 1 WT1 (6) 0.09091 1.00000 6.494e-4 1.239e-3 86 Drash syndrome Peritoneal neoplasms 1 1 WT1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 86 Peritoneal neoplasms wilms tumor 1 1 1 WT1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 86 Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Peritoneal neoplasms 1 1 CTNNB1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Partial lipodystrophy PLIN1-related familial partial lipodystrophy 1 1 PLIN1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 79 Facial dysmorphism syndrome POLE-related polyposis and colorectal cancer syndrome 1 1 POLE (7) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital skin anomaly Popliteal pterygium syndrome 1 1 IRF6 (4) 0.09091 1.00000 6.494e-4 1.239e-3 Popliteal pterygium syndrome Skin abnormalities 1 1 IRF6 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Postaxial acrofacial dysostosis Spherocytosis 1 1 DHODH (4) 0.09091 1.00000 6.494e-4 1.239e-3 Hypertensive heart disease PRKAG2-related cardiomyopathy 1 1 PRKAG2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Hypertensive heart disease Progressive myoclonic epilepsy with intracellular inclusions 1 1 PRDM8 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Headache Prostatic disease 1 1 OXT (2) 0.09091 1.00000 6.494e-4 1.239e-3 Deep vein thrombosis protein S deficiency 1 1 PROS1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Epidermolysis bullosa simplex Tongue neoplasms 1 1 KRT14 (3) 0.09091 1.00000 6.494e-4 1.239e-3 270 Erythrokeratodermia variabilis Palmoplantar keratoderma with congenital alopecia 1 1 GJA1 (5) 0.09091 1.00000 6.494e-4 1.239e-3 107 Erythrokeratodermia variabilis mednik syndrome 1 1 AP1S1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Erythrokeratodermia variabilis Peripheral neuropathy with sensorineural hearing impairment syndrome 1 1 GJB3 (7) 0.09091 1.00000 6.494e-4 1.239e-3 Erythrokeratodermia variabilis ichthyosiform erythroderma, corneal involvement, and hearing loss 1 1 AP1B1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Collagenopathy Eye disorder 1 1 COL2A1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 15 Coxa plana Eye disorder 1 0 COL2A1 (1) 0.09091 1.00000 6.494e-4 1.239e-3 15 Culler-jones syndrome Facial dysmorphism syndrome 1 1 GLI2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 169 Facial dysmorphism syndrome Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome 1 1 GLI2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 169 Facial dysmorphism syndrome Preaxial polydactyly with upper back hypertrichosis 1 1 SHH (3) 0.09091 1.00000 6.494e-4 1.239e-3 Facial dysmorphism syndrome Skeletal system disorder 1 1 SHH (2) 0.09091 1.00000 6.494e-4 1.239e-3 Familial partial lipodystrophy Partial lipodystrophy 1 1 CIDEC (5) 0.09091 1.00000 6.494e-4 1.239e-3 focal segmental glomerulosclerosis 4, susceptibility to Hypertensive heart disease 1 1 APOL1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 313 Eye disorder frontotemporal dementia and/or amyotrophic lateral sclerosis 1 1 1 C9orf72 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital skin anomaly geroderma osteodysplastica 1 1 GORAB (2) 0.09091 1.00000 6.494e-4 1.239e-3 396 geroderma osteodysplastica Skin abnormalities 1 1 GORAB (2) 0.09091 1.00000 6.494e-4 1.239e-3 396 Gilbert syndrome Serum bilirubin level 1 1 UGT1A1 (4) 0.09091 1.00000 6.494e-4 1.239e-3 Deep vein thrombosis hypoplasminogenemia 1 1 PLG (2) 0.09091 1.00000 6.494e-4 1.239e-3 immunodeficiency 121 with autoinflammation Omenn syndrome 1 1 PSMB10 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Berylliosis immunodeficiency 123 with hpv-related verrucosis 1 1 CD28 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Berylliosis immunodeficiency due to CD25 deficiency 1 1 IL2RA (2) 0.09091 1.00000 6.494e-4 1.239e-3 immunodeficiency, developmental delay, and hypohomocysteinemia Keratosis 1 1 NFE2L2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 immunodeficiency, developmental delay, and hypohomocysteinemia Vascular system injury 1 1 NFE2L2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Common migraine inherited thrombocytopenia 1 1 NOTCH3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly Intellectual developmental disorder microcephaly strabismus behaviora 1 1 POGZ (3) 0.09091 1.00000 6.494e-4 1.239e-3 Berylliosis Interleukin 2 receptor deficiency 1 1 IL2RA (2) 0.09091 1.00000 6.494e-4 1.239e-3 Intermittent porphyria Porphyria 1 1 HMBS (5) 0.09091 1.00000 6.494e-4 1.239e-3 Endometrial hyperplasia Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 1 1 CDKN1C (4) 0.09091 1.00000 6.494e-4 1.239e-3 Beckwith-wiedemann syndrome Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 1 1 CDKN1C (8) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital skin anomaly IRF6-related condition 1 1 IRF6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 IRF6-related condition Skin abnormalities 1 1 IRF6 (2) 0.09091 1.00000 6.494e-4 1.239e-3 IRIDA syndrome Iron deficiency anemia 1 1 TMPRSS6 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Craniodiaphyseal dysplasia Juvenile myoclonic epilepsy 1 1 CILK1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Esotropia kbg syndrome 1 1 ANKRD11 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Hypertensive heart disease Lafora body disease 1 1 PRDM8 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Laryngeal carcinoma Wagner syndrome 1 1 VCAN (5) 0.09091 1.00000 6.494e-4 1.239e-3 Laryngeal carcinoma microcephalic primordial dwarfism due to RTTN deficiency 1 1 RTTN (2) 0.09091 1.00000 6.494e-4 1.239e-3 Epiphyseal dysplasia Laryngeal hypoplasia 1 0 FOXP4 (1) 0.09091 1.00000 6.494e-4 1.239e-3 308 LIPE-related familial partial lipodystrophy Partial lipodystrophy 1 1 LIPE (2) 0.09091 1.00000 6.494e-4 1.239e-3 79 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Perisylvian syndrome 1 1 CCND2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 menkes disease Vascular system injury 1 1 ATP7A (2) 0.09091 1.00000 6.494e-4 1.239e-3 Micromelia Ureterolithiasis 1 1 ALPL (2) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly microphthalmia, syndromic 2 1 1 BCOR (2) 0.09091 1.00000 6.494e-4 1.239e-3 Childhood absence epilepsy Minor epilepsy 1 0 NPY (1) 0.09091 1.00000 6.494e-4 1.239e-3 Carbohydrate metabolism disease MPI-congenital disorder of glycosylation 1 1 MPI (2) 0.09091 1.00000 6.494e-4 1.239e-3 371 Omenn syndrome recombinase activating gene 1 deficiency 1 1 RAG1 (5) 0.09091 1.00000 6.494e-4 1.239e-3 176 Omenn syndrome recombinase activating gene 2 deficiency 1 1 RAG2 (5) 0.09091 1.00000 6.494e-4 1.239e-3 176 Ectrodactyly Sebaceous gland neoplasms 1 1 LEF1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Omenn syndrome severe combined immunodeficiency due to DCLRE1C deficiency 1 1 DCLRE1C (5) 0.09091 1.00000 6.494e-4 1.239e-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 1.239e-3 Headache short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 1 1 SLC10A7 (2) 0.09091 1.00000 6.494e-4 1.239e-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 1.239e-3 19 Craniodiaphyseal dysplasia short-rib thoracic dysplasia 16 with or without polydactyly 1 1 IFT52 (3) 0.09091 1.00000 6.494e-4 1.239e-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 1.239e-3 19 Craniodiaphyseal dysplasia short-rib thoracic dysplasia 7 with or without polydactyly 1 1 WDR35 (6) 0.09091 1.00000 6.494e-4 1.239e-3 Saldino-noonan syndrome short-rib thoracic dysplasia 8 with or without polydactyly 1 1 DYNC2I1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 19 Beckwith-wiedemann syndrome silver-russell syndrome 3 1 1 IGF2 (6) 0.09091 1.00000 6.494e-4 1.239e-3 Acro-dermo-ungual-lacrimal-tooth syndrome Skin abnormalities 1 1 TP63 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Delirium SLC6A3-related dopamine transporter deficiency syndrome 1 1 SLC6A3 (2) 0.09091 1.00000 6.494e-4 1.239e-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 1.239e-3 Epiphyseal dysplasia Stickler syndrome, type 4 1 1 COL9A1 (6) 0.09091 1.00000 6.494e-4 1.239e-3 308 Brachycephaly Sweeney-cox syndrome 1 1 TWIST1 (4) 0.09091 1.00000 6.494e-4 1.239e-3 250 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 1.239e-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 1.239e-3 Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency Skin abnormalities 1 1 CHUK (2) 0.09091 1.00000 6.494e-4 1.239e-3 Common migraine hypercholesterolemia, familial, 1 1 1 LDLR (2) 0.09091 1.00000 6.494e-4 1.239e-3 Common migraine Tricuspid atresia 1 0 LRP1 (1) 0.09091 1.00000 6.494e-4 1.239e-3 247 Comp-related skeletal dysplasia Epiphyseal dysplasia 1 1 COMP (5) 0.09091 1.00000 6.494e-4 1.239e-3 308 Complex partial epilepsy Perisylvian syndrome 1 1 SCN3A (2) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital atransferrinemia Iron deficiency anemia 1 1 TF (3) 0.09091 1.00000 6.494e-4 1.239e-3 245 Brachycephaly Congenital central hypothyroidism 1 0 TRHR (1) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital cleft hand Ectrodactyly 1 1 DLX5 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Colchicine resistance Congenital dyserythropoietic anemia 1 1 ABCB1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 120 Congenital dyserythropoietic anemia glutaryl-CoA dehydrogenase deficiency 1 1 GCDH (2) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital hypoplasia of pancreas monogenic diabetes 1 1 PDX1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital microtia Headache 1 1 PRKRA (2) 0.09091 1.00000 6.494e-4 1.239e-3 248 15q11q13 microduplication syndrome Angelman syndrome 1 1 UBE3A (7) 0.09091 1.00000 6.494e-4 1.239e-3 16q24.3 microdeletion syndrome Esotropia 1 1 ANKRD11 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Acatalasia Keratosis 1 1 CAT (4) 0.09091 1.00000 6.494e-4 1.239e-3 Acces syndrome Ectrodactyly 1 1 UBA2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 AKT2-related familial partial lipodystrophy Partial lipodystrophy 1 1 AKT2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Alazami-yuan syndrome Cornelia de lange syndrome 1 0 TAF6 (1) 0.09091 1.00000 6.494e-4 1.239e-3 301 amyotrophic lateral sclerosis type 1 Iron deficiency anemia 1 1 SOD1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 amyotrophic lateral sclerosis, susceptibility to, 24 Saldino-noonan syndrome 1 1 NEK1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 19 Angelman syndrome Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 1 1 TPP1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 55 Anterior compartment syndrome Vascular system injury 1 1 HMOX1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 194 Apraxia Intellectual developmental disorder hemoglobin persistence 1 1 BCL11A (3) 0.09091 1.00000 6.494e-4 1.239e-3 Apraxia Childhood apraxia of speech 1 1 FOXP2 (4) 0.09091 1.00000 6.494e-4 1.239e-3 Apraxia Cataplexy 1 0 NPC1 (1) 0.09091 1.00000 6.494e-4 1.239e-3 231 Apraxia Intellectual developmental disorder microcephaly strabismus behaviora 1 1 POGZ (3) 0.09091 1.00000 6.494e-4 1.239e-3 Bile duct neoplasms Leiomyoma 1 0 EGFR (1) 0.09091 1.00000 6.494e-4 1.239e-3 Binocular vision disease Brachycephaly 1 1 RPS23 (6) 0.09091 1.00000 6.494e-4 1.239e-3 250 Bohring-opitz syndrome Myelomonocytic leukemia 1 1 ASXL1 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Bone dysplasia with increased bone density Craniodiaphyseal dysplasia 1 1 SOST (6) 0.09091 1.00000 6.494e-4 1.239e-3 Bone resorption Collagenopathy 1 1 COL2A1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Bone resorption Coxa plana 1 1 COL2A1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Achondroplasia Brachycephaly 1 1 FGFR3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly Camptodactyly, tall stature, and hearing loss syndrome 1 1 FGFR3 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly Catshl syndrome 1 1 FGFR3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Brain atrophy optic atrophy 9 1 1 ACO2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Angelman syndrome Brown oculocutaneous albinism 1 1 OCA2 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Burnett schwartz berberian syndrome Common migraine 1 0 LRP1 (1) 0.09091 1.00000 6.494e-4 1.239e-3 247 Carbohydrate metabolism disease Triose phosphate isomerase deficiency 1 1 TPI1 (6) 0.09091 1.00000 6.494e-4 1.239e-3 371 Carbohydrate metabolism disease Familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 COL4A1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Carotid intima-media thickness Partial lipodystrophy 1 0 PPARG (1) 0.09091 1.00000 6.494e-4 1.239e-3 79 asphyxiating thoracic dystrophy 3 Saldino-noonan syndrome 1 1 DYNC2H1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 atransferrinemia Iron deficiency anemia 1 1 TF (2) 0.09091 1.00000 6.494e-4 1.239e-3 245 Atrophoderma vermiculata Common migraine 1 1 LRP1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 247 Atrophy Hyper-ige syndrome 1 1 STAT3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 167 Atrophy Lymphoproliferative disorder of natural killer cells 1 1 STAT3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 167 Atrophy STAT3-related early-onset multisystem autoimmune disease 1 1 STAT3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 167 Atrophy hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 1 STAT3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 167 Atypical absence epilepsy Childhood absence epilepsy 1 0 NPY (1) 0.09091 1.00000 6.494e-4 1.239e-3 Atypical fanconi syndrome monogenic diabetes 1 1 HNF4A (3) 0.09091 1.00000 6.494e-4 1.239e-3 Autoimmune uveitis Delirium 1 0 CXCL8 (1) 0.09091 1.00000 6.494e-4 1.239e-3 Autoimmune uveitis Esotropia 1 1 CXCL8 (2) 0.09091 1.00000 6.494e-4 1.239e-3 43 autosomal recessive osteopetrosis 2 Bone resorption 1 1 TNFSF11 (2) 0.09091 1.00000 6.494e-4 1.239e-3 259 Avoidant restrictive food intake disorder Delirium 1 1 APOE (3) 0.09091 1.00000 6.494e-4 1.239e-3 BBS10-related ciliopathy Saldino-noonan syndrome 1 1 BBS10 (2) 0.09091 1.00000 6.494e-4 1.239e-3 19 Beckwith-wiedemann syndrome Hemihyperplasia 1 1 IGF2 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Beta-ketothiolase deficiency Carbohydrate metabolism disease 1 1 ACAT1 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Bilateral frontoparietal polymicrogyria Perisylvian syndrome 1 1 ADGRG1 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Congenital muscular hypertrophy-cerebral syndrome Cornelia de lange syndrome 1 1 SMC1A (5) 0.09091 1.00000 6.494e-4 1.239e-3 301 congenital myasthenic syndrome 17 Tooth abnormalities 1 1 LRP4 (2) 0.09091 1.00000 6.494e-4 1.239e-3 344 Acro-dermo-ungual-lacrimal-tooth syndrome Congenital skin anomaly 1 1 TP63 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Contracture Hyaline fibromatosis 1 1 ANTXR2 (4) 0.09091 1.00000 6.494e-4 1.239e-3 Cortical dysgenesis with pontocerebellar hypoplasia Martsolf syndrome 1 1 TUBB3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Craniodiaphyseal dysplasia IFT140-related recessive ciliopathy 1 1 IFT140 (3) 0.09091 1.00000 6.494e-4 1.239e-3 craniofacial dysplasia - osteopenia syndrome Facial dysmorphism syndrome 1 1 IRX5 (4) 0.09091 1.00000 6.494e-4 1.239e-3 Brachycephaly craniosynostosis 6 1 1 ZIC1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Cutaneous polyarteritis nodosa Leiomyoma 1 1 SMAD3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 CBL-related disorder Myelomonocytic leukemia 1 1 CBL (5) 0.09091 1.00000 6.494e-4 1.239e-3 Angelman syndrome CDKL5 disorder 1 1 CDKL5 (4) 0.09091 1.00000 6.494e-4 1.239e-3 55 Central retinal vein occlusion Deep vein thrombosis 1 0 PROC (1) 0.09091 1.00000 6.494e-4 1.239e-3 Beckwith-wiedemann syndrome Cerebellar ataxia with deafness and narcolepsy 1 1 DNMT1 (5) 0.09091 1.00000 6.494e-4 1.239e-3 Beckwith-wiedemann syndrome Cerebellar ataxia, deafness, and narcolepsy 1 1 DNMT1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 Common migraine 1 1 NOTCH3 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Cerebrofaciothoracic dysplasia Tooth abnormalities 1 1 TMCO1 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Cerebrovascular trauma Common migraine 1 1 PHACTR1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Charcot-Marie-Tooth disease axonal type 2F Tongue neoplasms 1 1 HSPB1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Childhood absence epilepsy Conn syndrome 1 1 CACNA1H (4) 0.09091 1.00000 6.494e-4 1.239e-3 227 Chops syndrome Cornelia de lange syndrome 1 1 AFF4 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Chromosome 15q24 deletion syndrome Dwarfism 1 1 SIN3A (3) 0.09091 1.00000 6.494e-4 1.239e-3 Chromosome 19q13.11 deletion syndrome Ectrodactyly 1 0 UBA2 (1) 0.09091 1.00000 6.494e-4 1.239e-3 Clouston syndrome Deafness, x-linked 1 1 GJB6 (3) 0.09091 1.00000 6.494e-4 1.239e-3 68 Cocoon syndrome Congenital skin anomaly 1 1 CHUK (3) 0.09091 1.00000 6.494e-4 1.239e-3 Cocoon syndrome Skin abnormalities 1 1 CHUK (3) 0.09091 1.00000 6.494e-4 1.239e-3 Dermatopathia pigmentosa reticularis Tongue neoplasms 1 1 KRT14 (6) 0.09091 1.00000 6.494e-4 1.239e-3 270 Desanto-shinawi syndrome Facial dysmorphism syndrome 1 1 WAC (7) 0.09091 1.00000 6.494e-4 1.239e-3 169 developmental and epileptic encephalopathy, 50 Spherocytosis 1 1 CAD (2) 0.09091 1.00000 6.494e-4 1.239e-3 Developmental delay with immunodeficiency syndrome Keratosis 1 1 NFE2L2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Developmental delay with immunodeficiency syndrome Vascular system injury 1 1 NFE2L2 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency monogenic diabetes 1 1 KCNJ11 (4) 0.09091 1.00000 6.494e-4 1.239e-3 Atrophy Dicarboxylic aminoaciduria 1 1 SLC1A1 (6) 0.09091 1.00000 6.494e-4 1.239e-3 Atrophy Dicarboxylicaminoaciduria 1 1 SLC1A1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Dna ligase iv deficiency Omenn syndrome 1 1 LIG4 (5) 0.09091 1.00000 6.494e-4 1.239e-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 1.239e-3 175 Delirium Dopamine transporter deficiency syndrome 1 1 SLC6A3 (3) 0.09091 1.00000 6.494e-4 1.239e-3 Dosage-sensitive sex reversal Swyer syndrome 1 1 NR0B1 (2) 0.09091 1.00000 6.494e-4 1.239e-3 Dwarfism SIN3A-related intellectual disability syndrome 1 1 SIN3A (3) 0.09091 1.00000 6.494e-4 1.239e-3 Dwarfism Microcephalic dwarfism 1 1 DNMT3A (3) 0.09091 1.00000 6.494e-4 1.239e-3 Delirium Dysbetalipoproteinemia 1 1 APOE (3) 0.09091 1.00000 6.494e-4 1.239e-3 Ehlers-Danlos syndrome, spondylocheirodysplastic type Tooth abnormalities 1 1 SLC39A13 (2) 0.09091 1.00000 6.494e-4 1.239e-3 344 Endometrioid carcinoma Pleural diseases 1 1 MSLN (2) 0.09091 1.00000 6.494e-4 1.239e-3 12 Uranostaphyloschisis Uterine polyp 2 2 NFIA (2), SMARCA4 (2) 0.04255 0.08333 6.293e-4 1.239e-3 Brain infarction Hemophilia a 2 1 HLA-DQA1 (1), PLAT (2) 0.03922 0.12500 6.247e-4 1.233e-3 Intracranial aneurysm Vesicoureteral reflux 2 2 ENG (2), SOX17 (6) 0.03846 0.13333 6.102e-4 1.204e-3 Bladder exstrophy Bladder exstrophy and epispadias complex 2 2 TP63 (2), ISL1 (3) 0.04255 0.09524 6.092e-4 1.202e-3 30 Conduct disorder Sarcopenia 2 0 PTPRD (1), DMAC1 (1) 0.03226 0.18182 6.034e-4 1.191e-3 Corneal astigmatism Emphysema 3 0 PPARGC1A (1), DHX15 (1), PARD3 (1) 0.02857 0.08333 6.014e-4 1.187e-3 Hoarding disorder Mastocytosis 2 0 CEBPA (1), SLC7A10 (1) 0.04255 0.10000 5.937e-4 1.172e-3 Biliary atresia Uremia 2 2 SPP1 (2), ICAM1 (2) 0.04167 0.11111 5.882e-4 1.161e-3 Bilateral perisylvian polymicrogyria Combined immunodeficiency, enteropathy spectrum 1 1 PI4KA (2) 0.16667 0.33333 5.844e-4 1.154e-3 269 Bilateral perisylvian polymicrogyria Gastrointestinal defects and immunodeficiency syndrome 1 1 PI4KA (4) 0.16667 0.33333 5.844e-4 1.154e-3 269 Bile duct cancer Chromosome 22q11.2 microdeletion syndrome 1 1 MAPK1 (3) 0.16667 0.33333 5.844e-4 1.154e-3 Carnitine palmitoyltransferase deficiency Fatty acid metabolism disorder 1 1 CPT1A (7) 0.16667 0.33333 5.844e-4 1.154e-3 Coronary artery vasospasm Resistant hypertension 1 0 NOS3 (1) 0.16667 0.33333 5.844e-4 1.154e-3 326 Coronary artery vasospasm Intestinal perforation 1 1 NOS3 (2) 0.16667 0.33333 5.844e-4 1.154e-3 326 Coumarin resistance Warfarin sensitivity 1 1 CYP2C9 (2) 0.16667 0.33333 5.844e-4 1.154e-3 Dermatitis herpetiformis Spinal cord compression 1 0 TNF (1) 0.16667 0.33333 5.844e-4 1.154e-3 Dermatitis herpetiformis Desmoid tumor 1 1 TNF (2) 0.16667 0.33333 5.844e-4 1.154e-3 37 Dominantly inherited sensory neuropathy Episodic pain syndrome 1 1 SCN11A (3) 0.16667 0.33333 5.844e-4 1.154e-3 Early onset vitamin b6 dependent epilepsy Neonatal convulsions 1 1 ALDH7A1 (2) 0.16667 0.33333 5.844e-4 1.154e-3 Eichsfeld type congenital muscular dystrophy Multiminicore myopathy 1 1 SELENON (3) 0.16667 0.33333 5.844e-4 1.154e-3 15q11.2 microdeletion syndrome lissencephaly spectrum disorders 1 1 TUBG1 (3) 0.16667 0.33333 5.844e-4 1.154e-3 144 Acne inversa Amyloid neuropathy 1 1 PSEN1 (3) 0.16667 0.33333 5.844e-4 1.154e-3 151 Antithrombin deficiency Myoclonic epilepsy with ragged red fibers 1 1 IL1B (2) 0.16667 0.33333 5.844e-4 1.154e-3 Aplasia cutis congenita with epibulbar dermoids Intracranial arteriovenous malformation 1 1 KRAS (2) 0.16667 0.33333 5.844e-4 1.154e-3 Aplasia cutis congenita with epibulbar dermoids Schimmelpenning-feuerstein-mims syndrome 1 1 KRAS (2) 0.16667 0.33333 5.844e-4 1.154e-3 Combined deficiency of vitamin k-dependent clotting factors Coumarin resistance 1 1 VKORC1 (5) 0.16667 0.33333 5.844e-4 1.154e-3 417 Cerebellar ataxia, impaired intellectual development, and dysequilibrium Congenital communicating hydrocephalus 1 1 WDR81 (3) 0.16667 0.33333 5.844e-4 1.154e-3 Congenital communicating hydrocephalus Microlissencephaly 1 1 WDR81 (2) 0.16667 0.33333 5.844e-4 1.154e-3 Anuria Asthenozoospermia 1 1 PLAU (2) 0.16667 0.33333 5.844e-4 1.154e-3 Childhood-onset epilepsy syndrome Early onset epilepsy with developmental delay 1 1 ATP6V0C (4) 0.16667 0.33333 5.844e-4 1.154e-3 Chromosome 22q11.2 microdeletion syndrome Myelogenous leukemia 1 1 BCR (3) 0.16667 0.33333 5.844e-4 1.154e-3 266 Cleidocranial dysplasia Metaphyseal dysplasia 1 1 RUNX2 (6) 0.16667 0.33333 5.844e-4 1.154e-3 Leukocyte adhesion deficiency Leukocyte disorders 1 1 ITGB2 (6) 0.16667 0.33333 5.844e-4 1.154e-3 Cerebellar ataxia, impaired intellectual development, and dysequilibrium Microlissencephaly 1 1 WDR81 (2) 0.16667 0.33333 5.844e-4 1.154e-3 Bulbar palsy Riboflavin transporter deficiency 1 1 SLC52A3 (2) 0.16667 0.33333 5.844e-4 1.154e-3 Multiminicore myopathy Rigid spine muscular dystrophy 1 1 SELENON (3) 0.16667 0.33333 5.844e-4 1.154e-3 Activated pi3k-delta syndrome Roifman syndrome 1 1 PIK3CD (3) 0.16667 0.33333 5.844e-4 1.154e-3 375 Anastomosing haemangioma Schwartz-jampel syndrome 1 1 GNA11 (2) 0.16667 0.33333 5.844e-4 1.154e-3 Estrogen resistance Myelogenous leukemia 1 1 CCDC170 (2) 0.16667 0.33333 5.844e-4 1.154e-3 Glucocorticoid deficiency with achalasia Intellectual disability with strabismus syndrome 1 0 GMPPA (1) 0.16667 0.33333 5.844e-4 1.154e-3 383 Hemiparkinsonism Juvenile parkinsonism 1 1 DNAJC6 (3) 0.16667 0.33333 5.844e-4 1.154e-3 Hemiparkinsonism Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 1 0 DNAJC6 (1) 0.16667 0.33333 5.844e-4 1.154e-3 Bilateral perisylvian polymicrogyria Heparin cofactor 2 deficiency 1 1 PI4KA (2) 0.16667 0.33333 5.844e-4 1.154e-3 269 Combined immunodeficiency, enteropathy spectrum Heparin cofactor 2 deficiency 1 0 PI4KA (1) 0.16667 0.33333 5.844e-4 1.154e-3 269 Gastrointestinal defects and immunodeficiency syndrome Heparin cofactor 2 deficiency 1 1 PI4KA (3) 0.16667 0.33333 5.844e-4 1.154e-3 269 hereditary breast carcinoma Retinal vasculopathy with cerebral leukodystrophy 1 1 ATRIP (2) 0.16667 0.33333 5.844e-4 1.154e-3 Hydrolethalus syndrome Male infertility testicular dysgenesis 1 1 KIF7 (5) 0.16667 0.33333 5.844e-4 1.154e-3 192 Ataxia with vitamin e deficiency Hypobetalipoproteinemia 1 1 APOB (5) 0.16667 0.33333 5.844e-4 1.154e-3 Hypocalcemic vitamin d-dependent rickets Vitamin d deficiency 1 1 VDR (3) 0.16667 0.33333 5.844e-4 1.154e-3 Benign mucous membrane pemphigoid with ocular involvement Tonsil cancer 1 1 HLA-DQB1 (2) 0.16667 0.33333 5.844e-4 1.154e-3 1 Bouillaud’s disease Tonsil cancer 1 1 HLA-DQB1 (2) 0.16667 0.33333 5.844e-4 1.154e-3 1 Acute disseminated encephalomyelitis Tonsil cancer 1 1 HLA-DQB1 (2) 0.16667 0.33333 5.844e-4 1.154e-3 1 Intellectual disability with strabismus syndrome Triple a syndrome 1 1 GMPPA (2) 0.16667 0.33333 5.844e-4 1.154e-3 383 Intestinal perforation Resistant hypertension 1 1 NOS3 (2) 0.16667 0.33333 5.844e-4 1.154e-3 326 Juvenile parkinsonism Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 1 1 DNAJC6 (3) 0.16667 0.33333 5.844e-4 1.154e-3 immunodeficiency-centromeric instability-facial anomalies syndrome 1 Kabuki syndrome 1 1 DNMT3B (2) 0.10000 1.00000 5.845e-4 1.154e-3 immunodeficiency-centromeric instability-facial anomalies syndrome 2 Kabuki syndrome 1 1 ZBTB24 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Hepatic insufficiency immunodeficiency, developmental delay, and hypohomocysteinemia 1 1 NFE2L2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Imperforate anus Neurooculorenal syndrome 1 1 ROBO1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Imperforate anus Intellectual developmental disorder dysmorphic ocular microcephaly peripheral 1 1 CTNNB1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 inborn disorder of cobalamin metabolism and transport Intracellular cobalamin metabolism disorder 1 1 MMADHC (2) 0.10000 1.00000 5.845e-4 1.154e-3 interstitial lung disease due to ABCA3 deficiency Pulmonary alveolar proteinosis 1 1 ABCA3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Intrahepatic cholestasis mednik syndrome 1 1 AP1S1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 135 Intrahepatic cholestasis progressive familial intrahepatic cholestasis type 3 1 1 ABCB4 (2) 0.10000 1.00000 5.845e-4 1.154e-3 135 Branchial arch abnormalities syndrome Kabuki syndrome 1 1 KMT2D (8) 0.10000 1.00000 5.845e-4 1.154e-3 Branchial cleft anomalies Kabuki syndrome 1 1 KMT2D (8) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital arteriovenous malformation EPHB4-associated vascular malformation spectrum 1 1 EPHB4 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Chondrosarcoma exostoses, multiple, type 1 1 1 EXT1 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Exudative vitreoretinopathy Intellectual developmental disorder dysmorphic ocular microcephaly peripheral 1 1 CTNNB1 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Fabry disease renal tubular dysgenesis - ACE 1 1 ACE (2) 0.10000 1.00000 5.845e-4 1.154e-3 60 Fabry disease krabbe disease 1 1 GALC (2) 0.10000 1.00000 5.845e-4 1.154e-3 60 Fabry disease Peptic esophagitis 1 0 VDR (1) 0.10000 1.00000 5.845e-4 1.154e-3 Disseminated intravascular coagulation Factor vii deficiency 1 1 F7 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Factor xi deficiency Thromboembolic pulmonary hypertension 1 1 F11 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital joint contractures familial hemiplegic migraine 1 1 SCN1A (2) 0.10000 1.00000 5.845e-4 1.154e-3 FAS-related autoimmune lymphoproliferative immune disorder Splenic disease 1 1 FAS (3) 0.10000 1.00000 5.845e-4 1.154e-3 246 Dystonia musculorum deformans Focal dystonia 1 1 GNAL (2) 0.10000 1.00000 5.845e-4 1.154e-3 172 Focal dystonia Genetic torsion dystonia 1 1 GNAL (2) 0.10000 1.00000 5.845e-4 1.154e-3 172 Autoimmune pulmonary alveolar proteinosis Follicular lymphoma 1 0 HLA-DRB1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 254 Follicular lymphoma Heerfordt syndrome 1 1 HLA-DRB1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 254 Aniridia FOXC1-related anterior segment dysgenesis 1 1 FOXC1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 82 Exudative vitreoretinopathy FZD4-related exudative vitreoretinopathy 1 1 FZD4 (6) 0.10000 1.00000 5.845e-4 1.154e-3 189 Bartter syndrome Genetic renal tubular disease 1 0 SLC12A3 (1) 0.10000 1.00000 5.845e-4 1.154e-3 dystonia 27 Genetic torsion dystonia 1 1 COL6A3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Genetic torsion dystonia GTP cyclohydrolase I deficiency 1 1 GCH1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Ghosal hematodiaphyseal dysplasia Imperforate anus 1 1 TBXAS1 (7) 0.10000 1.00000 5.845e-4 1.154e-3 111 Glucocorticoid deficiency Intermittent explosive disorder 1 0 COMT (1) 0.10000 1.00000 5.845e-4 1.154e-3 Glycoprotein vi deficiency Von willebrand disorder 1 0 GP6 (1) 0.10000 1.00000 5.845e-4 1.154e-3 414 G6PD deficiency Granulomatous disease 1 1 G6PD (3) 0.10000 1.00000 5.845e-4 1.154e-3 12 anemia, nonspherocytic hemolytic, due to G6PD deficiency Granulomatous disease 1 1 G6PD (3) 0.10000 1.00000 5.845e-4 1.154e-3 12 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Urogenital abnormalities 1 1 HOXA11 (3) 0.10000 1.00000 5.845e-4 1.154e-3 74 Exudative vitreoretinopathy RCBTB1-related retinopathy 1 1 RCBTB1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 189 Hypercalciuria renal hypomagnesemia 3 1 1 CLDN16 (2) 0.10000 1.00000 5.845e-4 1.154e-3 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss Urogenital abnormalities 1 1 ATP6V1B1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 74 Cardiac conduction disease Repolarization syndrome 1 0 CACNB2 (1) 0.10000 1.00000 5.845e-4 1.154e-3 Pulmonary alveolar proteinosis Respiratory distress with surfactant metabolism deficiency 1 1 SFTPC (3) 0.10000 1.00000 5.845e-4 1.154e-3 Retinoblastoma Small cell carcinoma 1 1 RB1 (5) 0.10000 1.00000 5.845e-4 1.154e-3 SEC61A1 deficiency Tubulointerstitial kidney disease 1 1 SEC61A1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 97 Serum bilirubin level Small cell carcinoma 1 1 UGT1A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Pulmonary alveolar proteinosis SFTPC-related interstitial lung disease 1 1 SFTPC (2) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-3 Adrenocortical carcinoma Small cell carcinoma 1 1 TP53 (2) 0.10000 1.00000 5.845e-4 1.154e-3 88 Choroid plexus carcinoma Small cell carcinoma 1 1 TP53 (3) 0.10000 1.00000 5.845e-4 1.154e-3 88 Choroid plexus papilloma Small cell carcinoma 1 1 TP53 (3) 0.10000 1.00000 5.845e-4 1.154e-3 88 Small cell carcinoma Small cell ovary carcinoma 1 1 SMARCA4 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Kabuki syndrome spastic paraplegia, intellectual disability, nystagmus, and obesity 1 1 KIDINS220 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Brain tumor-polyposis syndrome Splenic disease 1 1 APC (2) 0.10000 1.00000 5.845e-4 1.154e-3 Disseminated intravascular coagulation Spontaneous coronary artery dissection 1 1 F3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 36 Spontaneous coronary artery dissection Von willebrand disorder 1 1 F3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Collagenopathy Synovitis 1 1 COL2A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 15 Coxa plana Synovitis 1 1 COL2A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 15 Czech dysplasia Synovitis 1 1 COL2A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 15 Dysspondyloenchondromatosis Synovitis 1 1 COL2A1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 15 Cardiac conduction disease MYH-6 related congenital heart defects 1 1 MYH6 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Myoclonus-renal failure syndrome progressive myoclonus epilepsy 1 1 SCARB2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 339 Cataract-microcornea syndrome nance-horan syndrome 1 1 NHS (2) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-3 Neonatal hyperbilirubinemia Small cell carcinoma 1 1 UGT1A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Crigler-najjar syndrome Neonatal hyperbilirubinemia 1 1 UGT1A1 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Lucey-driscoll syndrome Neonatal hyperbilirubinemia 1 1 UGT1A1 (3) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-3 Neurooculorenal syndrome Pituitary hormone deficiency 1 1 ROBO1 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Nocturnal frontal lobe epilepsy primary ciliary dyskinesia 28 1 1 SPAG1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 normophosphatemic familial tumoral calcinosis Urogenital abnormalities 1 1 SAMD9 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Exudative vitreoretinopathy norrie disease 1 1 NDP (5) 0.10000 1.00000 5.845e-4 1.154e-3 Hyperproinsulinemia obsolete early infantile epileptic encephalopathy 1 1 GAD1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 118 Aniridia Ocular dysgenesis 1 1 ELP4 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Lucey-driscoll syndrome Serum bilirubin level 1 1 UGT1A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Collagenopathy Maffucci syndrome 1 1 COL2A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 15 Coxa plana Maffucci syndrome 1 0 COL2A1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 15 Czech dysplasia Maffucci syndrome 1 1 COL2A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 15 Dysspondyloenchondromatosis Maffucci syndrome 1 1 COL2A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 15 Male infertility globozoospermia Xy gonadal dysgenesis syndrome 1 0 PPP2R3C (1) 0.10000 1.00000 5.845e-4 1.154e-3 Male infertility large polyploid spermatozoa spermatogenic failure 56 1 1 DNAH10 (3) 0.10000 1.00000 5.845e-4 1.154e-3 11 Male infertility large polyploid spermatozoa spermatogenic failure 46 1 1 DNAH8 (2) 0.10000 1.00000 5.845e-4 1.154e-3 11 Male infertility large polyploid spermatozoa spermatogenic failure 5 1 1 AURKC (4) 0.10000 1.00000 5.845e-4 1.154e-3 11 Imperforate anus MED12-related intellectual disability syndrome 1 1 MED12 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Maffucci syndrome Metaphyseal enchondromatosis 1 1 IDH1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Anencephaly methylcobalamin deficiency type cblE 1 1 MTRR (2) 0.10000 1.00000 5.845e-4 1.154e-3 155 Intracellular cobalamin metabolism disorder methylcobalamin deficiency type cblG 1 1 MTR (2) 0.10000 1.00000 5.845e-4 1.154e-3 Intracellular cobalamin metabolism disorder methylmalonic acidemia with homocystinuria, type cblJ 1 1 ABCD4 (2) 0.10000 1.00000 5.845e-4 1.154e-3 198 Intracellular cobalamin metabolism disorder methylmalonic aciduria and homocystinuria type cblF 1 1 LMBRD1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Microcephalic dwarfism Polycythemia vera 1 1 DNMT3A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Hepatic insufficiency Mucocutaneous ulceration 1 1 RELA (3) 0.10000 1.00000 5.845e-4 1.154e-3 80 Diabetic polyneuropathy Other specified diabetes mellitus with unspecified complications 1 1 WFS1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Benign pemphigus P5CS deficiency 1 1 ALDH18A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Darier disease P5CS deficiency 1 1 ALDH18A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Optic neuropathy Periodic paralysis with later-onset distal motor neuropathy 1 0 ATP8 (1) 0.10000 1.00000 5.845e-4 1.154e-3 26 Haddad syndrome Phenylketonuria 1 1 PAH (4) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital central hypoventilation syndrome Phenylketonuria 1 1 PAH (4) 0.10000 1.00000 5.845e-4 1.154e-3 platelet-type bleeding disorder 11 Von willebrand disorder 1 1 GP6 (2) 0.10000 1.00000 5.845e-4 1.154e-3 414 platelet-type bleeding disorder 8 Von willebrand disorder 1 1 P2RY12 (2) 0.10000 1.00000 5.845e-4 1.154e-3 414 platelet-type von Willebrand disease Von willebrand disorder 1 1 GP1BA (4) 0.10000 1.00000 5.845e-4 1.154e-3 polycystic liver disease 2 Tubulointerstitial kidney disease 1 1 SEC63 (2) 0.10000 1.00000 5.845e-4 1.154e-3 97 Polynesian bronchiectasis primary ciliary dyskinesia 3 1 1 DNAH5 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 Polynesian bronchiectasis primary ciliary dyskinesia 15 1 1 CCDC40 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 primary ciliary dyskinesia spermatogenic failure 56 1 0 DNAH10 (1) 0.10000 1.00000 5.845e-4 1.154e-3 11 primary ciliary dyskinesia Young syndrome 1 1 CFAP221 (3) 0.10000 1.00000 5.845e-4 1.154e-3 11 primary ciliary dyskinesia spermatogenic failure 19 1 0 CFAP43 (1) 0.10000 1.00000 5.845e-4 1.154e-3 primary ciliary dyskinesia spermatogenic failure 18 1 0 DNAH1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 11 Polynesian bronchiectasis primary ciliary dyskinesia 1 1 1 DNAI1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 Ellis-van creveld syndrome primary ciliary dyskinesia 14 1 1 CCDC39 (2) 0.10000 1.00000 5.845e-4 1.154e-3 233 Polynesian bronchiectasis primary ciliary dyskinesia 17 1 1 DNAAF19 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 Polynesian bronchiectasis primary ciliary dyskinesia 2 1 1 DNAAF3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 Polynesian bronchiectasis primary ciliary dyskinesia 21 1 1 DRC1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 Polynesian bronchiectasis primary ciliary dyskinesia 25 1 1 DNAAF4 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 Polynesian bronchiectasis primary ciliary dyskinesia 7 1 1 DNAH11 (2) 0.10000 1.00000 5.845e-4 1.154e-3 9 Progressive myoclonic epilepsy with renal failure progressive myoclonus epilepsy 1 1 SEMA6B (5) 0.10000 1.00000 5.845e-4 1.154e-3 339 Disseminated intravascular coagulation Prostatic disease 1 1 OXT (2) 0.10000 1.00000 5.845e-4 1.154e-3 Autoimmune pulmonary alveolar proteinosis Pulmonary alveolar proteinosis 1 1 HLA-DRB1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Heerfordt syndrome Pulmonary alveolar proteinosis 1 0 HLA-DRB1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 Polycythemia vera Tatton-Brown-Rahman overgrowth syndrome 1 1 DNMT3A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Haddad syndrome Tetrahydrobiopterin-responsive phenylketonuria 1 1 PAH (3) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital central hypoventilation syndrome Tetrahydrobiopterin-responsive phenylketonuria 1 1 PAH (3) 0.10000 1.00000 5.845e-4 1.154e-3 Thiamine-responsive megaloblastic anemia Venous insufficiency 1 1 SLC19A2 (7) 0.10000 1.00000 5.845e-4 1.154e-3 84 Disseminated intravascular coagulation Thrombomodulin-related bleeding disorder 1 1 THBD (6) 0.10000 1.00000 5.845e-4 1.154e-3 36 Disseminated intravascular coagulation thrombophilia due to thrombin defect 1 1 F2 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital chromosomal disease Thyroid carcinoma 1 1 POT1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Revesz debuse syndrome Thyroid carcinoma 1 1 TINF2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Revesz syndrome Thyroid carcinoma 1 1 TINF2 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Charge syndrome TNF receptor 1-associated periodic fever syndrome 1 1 TNFRSF1A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Exudative vitreoretinopathy TSPAN12-related exudative vitreoretinopathy 1 1 TSPAN12 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Dystonia musculorum deformans TUBB4A-related neurologic disorder 1 1 TUBB4A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Genetic torsion dystonia TUBB4A-related neurologic disorder 1 1 TUBB4A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Bilateral multicystic dysplastic kidney Tubulointerstitial kidney disease 1 1 HNF1B (2) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital hypoplasia of aortic arch Urogenital abnormalities 1 0 PKHD1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 74 Periportal fibrosis Urogenital abnormalities 1 0 PKHD1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 74 Congenital hernia of foramen of bochdalek Venous insufficiency 1 1 EFEMP1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Kabuki syndrome Ventriculomegaly with arthrogryposis 1 1 KIDINS220 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Charge syndrome Verheij syndrome 1 1 PUF60 (3) 0.10000 1.00000 5.845e-4 1.154e-3 370 Vitamin b12-unresponsive methylmalonic acidemia Vitamin deficiency disorder 1 1 FUT2 (3) 0.10000 1.00000 5.845e-4 1.154e-3 100 Haddad syndrome Waardenburg syndrome type 4B 1 1 EDN3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital central hypoventilation syndrome Waardenburg syndrome type 4B 1 1 EDN3 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Dystonia musculorum deformans Whispering dysphonia 1 1 TUBB4A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Genetic torsion dystonia Whispering dysphonia 1 1 TUBB4A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Combined pituitary hormone deficiency Winkelman bethge pfeiffer syndrome 1 1 LHX3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 273 Pituitary hormone deficiency Winkelman bethge pfeiffer syndrome 1 1 LHX3 (3) 0.10000 1.00000 5.845e-4 1.154e-3 273 Diabetic polyneuropathy Wolfram-like syndrome 1 1 WFS1 (8) 0.10000 1.00000 5.845e-4 1.154e-3 Benign pemphigus Wrinkly skin syndrome 1 1 ATP6V0A2 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Darier disease Wrinkly skin syndrome 1 1 ATP6V0A2 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Dystonia musculorum deformans X-linked dystonia-parkinsonism 1 1 TAF1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 172 Genetic torsion dystonia X-linked dystonia-parkinsonism 1 1 TAF1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 172 Combined pituitary hormone deficiency Growth hormone deficiency with pituitary anomalies 1 1 HESX1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 273 Growth hormone deficiency with pituitary anomalies Pituitary hormone deficiency 1 0 HESX1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 273 Growth retardation, developmental delay, and facial dysmorphism Venous insufficiency 1 1 FTO (2) 0.10000 1.00000 5.845e-4 1.154e-3 Diabetic polyneuropathy Growth retardation, developmental delay, and facial dysmorphism 1 1 FTO (2) 0.10000 1.00000 5.845e-4 1.154e-3 Growth retardation, developmental delay, coarse facies, and early death Venous insufficiency 1 1 FTO (3) 0.10000 1.00000 5.845e-4 1.154e-3 Diabetic polyneuropathy Growth retardation, developmental delay, coarse facies, and early death 1 1 FTO (3) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital digestive system anomaly Haddad syndrome 1 0 RET (1) 0.10000 1.00000 5.845e-4 1.154e-3 Haddad syndrome Medullary thyroid cancer 1 1 RET (2) 0.10000 1.00000 5.845e-4 1.154e-3 Haddad syndrome multiple endocrine neoplasia type 2B 1 1 RET (2) 0.10000 1.00000 5.845e-4 1.154e-3 Disseminated intravascular coagulation Hereditary antithrombin deficiency 1 1 SERPINC1 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital joint contractures hereditary sensory and autonomic neuropathy type 6 1 1 DST (2) 0.10000 1.00000 5.845e-4 1.154e-3 Disseminated intravascular coagulation hereditary thrombophilia due to congenital protein C deficiency 1 1 PROC (3) 0.10000 1.00000 5.845e-4 1.154e-3 heyn-sproul-jackson syndrome Polycythemia vera 1 1 DNMT3A (2) 0.10000 1.00000 5.845e-4 1.154e-3 Hurthle cell thyroid cancer Thyroid carcinoma 1 1 NDUFA13 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Eye pain Hypercalciuria 1 0 POMC (1) 0.10000 1.00000 5.845e-4 1.154e-3 hyperinsulinemic hypoglycemia, familial, 2 Transient neonatal diabetes mellitus 1 1 KCNJ11 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Bone marrow failure syndromes hyperinsulinism due to glucokinase deficiency 1 1 GCK (2) 0.10000 1.00000 5.845e-4 1.154e-3 Hyperproinsulinemia Hyperprolactinemia 1 1 PRLR (6) 0.10000 1.00000 5.845e-4 1.154e-3 118 hypoplasminogenemia Splenic disease 1 1 PLG (2) 0.10000 1.00000 5.845e-4 1.154e-3 246 Central hypothyroidism Imperforate anus 1 0 ROBO1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 Central hypothyroidism Pituitary hormone deficiency 1 1 ROBO1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Central retinal vein occlusion Disseminated intravascular coagulation 1 1 PROC (2) 0.10000 1.00000 5.845e-4 1.154e-3 Charcot-Marie-Tooth disease type 2A1 Congenital joint contractures 1 1 KIF1B (2) 0.10000 1.00000 5.845e-4 1.154e-3 Charcot-Marie-Tooth disease type 4C Congenital joint contractures 1 1 SH3TC2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Charge syndrome Intellectual developmental disorder dysmorphic cardiac short stature 1 1 PUF60 (2) 0.10000 1.00000 5.845e-4 1.154e-3 370 Cholestasis-pigmentary retinopathy-cleft palate syndrome Imperforate anus 1 1 MED12 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Chondrosarcoma Collagenopathy 1 1 COL2A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 15 Chondrosarcoma Coxa plana 1 1 COL2A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 15 Chondrosarcoma Czech dysplasia 1 1 COL2A1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 15 Chondrosarcoma Dysspondyloenchondromatosis 1 1 COL2A1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 15 Chromosome 22q11.2 deletion syndrome Pulmonary alveolar proteinosis 1 0 ABCA3 (1) 0.10000 1.00000 5.845e-4 1.154e-3 ciliary dyskinesia, primary, 39 Congenital arteriovenous malformation 1 1 LRRC56 (2) 0.10000 1.00000 5.845e-4 1.154e-3 17 ciliopathy-IFT74 Male infertility large polyploid spermatozoa 1 1 IFT74 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Coats disease Exudative vitreoretinopathy 1 1 NDP (5) 0.10000 1.00000 5.845e-4 1.154e-3 Cobalamin metabolism disorder Intracellular cobalamin metabolism disorder 1 1 MMADHC (2) 0.10000 1.00000 5.845e-4 1.154e-3 Developmental delay with immunodeficiency syndrome Hepatic insufficiency 1 1 NFE2L2 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Diabetic maculopathy hao-fountain syndrome 1 1 USP7 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Diabetic maculopathy neuroblastoma, susceptibility to, 3 1 1 ALK (2) 0.10000 1.00000 5.845e-4 1.154e-3 Diabetic maculopathy Turricephaly 1 1 ZIC1 (2) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-3 Cardiac conduction disease dilated cardiomyopathy 1EE 1 1 MYH6 (2) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-3 dystonia 27 Dystonia musculorum deformans 1 1 COL6A3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Dystonia musculorum deformans GTP cyclohydrolase I deficiency 1 1 GCH1 (2) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-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 1.154e-3 Adrenocortical carcinoma Bone marrow failure syndromes 1 1 TP53 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Bone marrow failure syndromes Choroid plexus carcinoma 1 1 TP53 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Bone marrow failure syndromes Choroid plexus papilloma 1 1 TP53 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Bone marrow neoplasms Optic neuropathy 1 1 CSF3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Cardiac-urogenital syndrome Synovitis 1 1 MYRF (7) 0.10000 1.00000 5.845e-4 1.154e-3 Cardiac-urogenital syndrome Urogenital abnormalities 1 1 MYRF (6) 0.10000 1.00000 5.845e-4 1.154e-3 Cardiac conduction disease Cardiogenetic disease 1 1 CACNB2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Cardiogenetic disease Congenital esophageal anomaly 1 1 CACNB2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 congenital myasthenic syndrome 17 Maffucci syndrome 1 1 LRP4 (2) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-3 Congenital prothrombin deficiency Disseminated intravascular coagulation 1 1 F2 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Cataract-microcornea syndrome Congenital sclerocornea 1 1 GJA8 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital sensory neuropathy Corneal ulcer 1 1 NGF (3) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital arteriovenous malformation Conn syndrome 1 0 CACNA1H (1) 0.10000 1.00000 5.845e-4 1.154e-3 Cataract-microcornea syndrome Coralliform cataract 1 1 CRYGD (3) 0.10000 1.00000 5.845e-4 1.154e-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 1.154e-3 Craniocerebral trauma Disseminated intravascular coagulation 1 1 SERPINC1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 craniosynostosis 6 Diabetic maculopathy 1 1 ZIC1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Crigler-najjar syndrome Serum bilirubin level 1 1 UGT1A1 (6) 0.10000 1.00000 5.845e-4 1.154e-3 Benign pemphigus De barsy syndrome 1 1 ALDH18A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Darier disease De barsy syndrome 1 1 ALDH18A1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Deafness with congenital and adult-onset progressive leukodystrophy Optic neuropathy 1 1 KARS1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Arterial occlusive disease Hepatic lipase deficiency 1 1 LIPC (3) 0.10000 1.00000 5.845e-4 1.154e-3 29 Arthrogryposis with oculomotor limitation and retinal anomalies Congenital joint contractures 1 1 PIEZO2 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Asperger syndrome Behavior disorders 1 1 SLC6A4 (2) 0.10000 1.00000 5.845e-4 1.154e-3 392 Ataxia with polyneuropathy Optic neuropathy 1 0 ATP6 (1) 0.10000 1.00000 5.845e-4 1.154e-3 Atrial tachyarrhythmia, infra-hisian cardiac conduction disease Cardiac conduction disease 1 1 TNNI3K (3) 0.10000 1.00000 5.845e-4 1.154e-3 3 Atrophia bulborum heritaria Exudative vitreoretinopathy 1 1 NDP (4) 0.10000 1.00000 5.845e-4 1.154e-3 autosomal recessive cutis laxa type 2A Benign pemphigus 1 1 ATP6V0A2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 autosomal recessive cutis laxa type 2A Darier disease 1 1 ATP6V0A2 (2) 0.10000 1.00000 5.845e-4 1.154e-3 autosomal recessive cutis laxa type 2B Benign pemphigus 1 1 PYCR1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 94 autosomal recessive cutis laxa type 2B Darier disease 1 1 PYCR1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 94 autosomal recessive cutis laxa type 2C Benign pemphigus 1 1 ATP6V1E1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 94 autosomal recessive cutis laxa type 2C Darier disease 1 1 ATP6V1E1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 94 autosomal recessive cutis laxa type 2D Benign pemphigus 1 1 ATP6V1A (2) 0.10000 1.00000 5.845e-4 1.154e-3 94 autosomal recessive cutis laxa type 2D Darier disease 1 1 ATP6V1A (2) 0.10000 1.00000 5.845e-4 1.154e-3 94 Bartter syndrome renal tubular dysgenesis of genetic origin 1 1 REN (3) 0.10000 1.00000 5.845e-4 1.154e-3 Bartter syndrome neonatal severe primary hyperparathyroidism 1 1 CASR (2) 0.10000 1.00000 5.845e-4 1.154e-3 Bartter syndrome Sensorineural deafness with renal dysfunction 1 1 BSND (6) 0.10000 1.00000 5.845e-4 1.154e-3 Bartter syndrome Hypokalemia-hypomagnesemia 1 1 SLC12A3 (2) 0.10000 1.00000 5.845e-4 1.154e-3 Benign familial pemphigus Benign pemphigus 1 1 ATP2C1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 94 16p13.2 microdeletion syndrome Diabetic maculopathy 1 1 USP7 (2) 0.10000 1.00000 5.845e-4 1.154e-3 22q11.2 deletion syndrome Intermittent explosive disorder 1 1 COMT (2) 0.10000 1.00000 5.845e-4 1.154e-3 22q11.2 deletion syndrome Chromosome 22q11.2 microduplication syndrome 1 1 TBX1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 22q11.2 deletion syndrome Conotruncal anomaly face syndrome 1 1 TBX1 (3) 0.10000 1.00000 5.845e-4 1.154e-3 8q24.3 microdeletion syndrome Charge syndrome 1 1 PUF60 (2) 0.10000 1.00000 5.845e-4 1.154e-3 370 Aarskog-scott syndrome, x-linked Urogenital abnormalities 1 1 FGD1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Acral self-healing collodion baby Congenital ichthyosiform erythroderma 1 1 TGM1 (2) 0.10000 1.00000 5.845e-4 1.154e-3 232 Acrokeratosis verruciformis Darier disease 1 1 ATP2A2 (6) 0.10000 1.00000 5.845e-4 1.154e-3 amyotrophic lateral sclerosis type 19 Peritoneal disease 1 1 ERBB4 (2) 0.10000 1.00000 5.845e-4 1.154e-3 312 Aplasia and myelodysplasia Bone marrow failure syndromes 1 1 SRP72 (4) 0.10000 1.00000 5.845e-4 1.154e-3 319 combined immunodeficiency due to RELA haploinsufficiency Hepatic insufficiency 1 1 RELA (2) 0.10000 1.00000 5.845e-4 1.154e-3 80 Combined pituitary hormone deficiency Culler-jones syndrome 1 1 GLI2 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Combined pituitary hormone deficiency Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome 1 1 GLI2 (5) 0.10000 1.00000 5.845e-4 1.154e-3 complex movement disorder with or without neurodevelopmental features Dystonia musculorum deformans 1 1 HPCA (3) 0.10000 1.00000 5.845e-4 1.154e-3 172 complex movement disorder with or without neurodevelopmental features Genetic torsion dystonia 1 1 HPCA (2) 0.10000 1.00000 5.845e-4 1.154e-3 172 Congenital central hypoventilation syndrome Congenital digestive system anomaly 1 1 RET (2) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital central hypoventilation syndrome Medullary thyroid cancer 1 1 RET (2) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital central hypoventilation syndrome multiple endocrine neoplasia type 2B 1 1 RET (3) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital esophageal anomaly Repolarization syndrome 1 0 CACNB2 (1) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital esophageal anomaly X-linked opitz syndrome 1 1 MID1 (4) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital esophageal anomaly Congenital insufficiency of mitral valve 1 0 LMCD1 (1) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital factor ii deficiency Disseminated intravascular coagulation 1 1 F2 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital factor vii deficiency Disseminated intravascular coagulation 1 1 F7 (5) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital factor xi deficiency Thromboembolic pulmonary hypertension 1 1 F11 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Bone marrow failure syndromes Congenital glucokinase-related hyperinsulinism 1 1 GCK (2) 0.10000 1.00000 5.845e-4 1.154e-3 Combined pituitary hormone deficiency Congenital hypopituitarism 1 1 FOXA2 (3) 0.10000 1.00000 5.845e-4 1.154e-3 Congenital lipoid adrenal hyperplasia Glucocorticoid deficiency 1 1 STAR (4) 0.10000 1.00000 5.845e-4 1.154e-3 Bryant-li-bhoj neurodevelopmental syndrome Global developmental delay 2 2 H3-3B (4), H3-3A (4) 0.00539 1.00000 5.759e-4 1.154e-3 Conduct disorder Genetic predisposition to disease 3 3 ERCC4 (2), ADH1B (2), ADH1C (2) 0.03061 0.06250 5.644e-4 1.148e-3 Cervical polyp Eczema 2 0 IRAK1BP1 (1), MEI4 (1) 0.00546 1.00000 5.604e-4 1.140e-3 Esophageal atresia Toxic nodular goiter 2 2 TERT (2), INSR (2) 0.04167 0.11765 5.581e-4 1.135e-3 Metabolic bone disorder Osteonecrosis 2 2 KCNMA1 (2), MMP2 (2) 0.03846 0.14286 5.580e-4 1.135e-3 Schizoaffective disorder Seasonal affective disorder 2 0 NPAS2 (1), NPY (1) 0.04082 0.12500 5.570e-4 1.133e-3 Corneal astigmatism Esophageal adenocarcinoma 3 0 KHDRBS2 (1), PLCL1 (1), FMNL2 (1) 0.02885 0.08571 5.531e-4 1.125e-3 Cushing's disease Ocular hypertension 2 2 NR3C1 (2), CDH23 (2) 0.03390 0.18182 5.357e-4 1.090e-3 296 Blepharoptosis Hereditary parkinson disease 2 1 LRRK2 (4), ND1 (1) 0.04348 0.10526 5.349e-4 1.089e-3 Cone rod dystrophy and hearing loss Retinitis pigmentosa 2 2 CEP78 (5), CEP250 (6) 0.00560 1.00000 5.331e-4 1.085e-3 Bradyopsia Retinitis pigmentosa 2 2 RGS9 (4), RGS9BP (2) 0.00560 1.00000 5.331e-4 1.085e-3 Testicular carcinoma Transient neonatal diabetes mellitus 2 2 HNF1B (3), GATA4 (3) 0.02941 0.22222 5.282e-4 1.075e-3 Testicular germ cell tumor Transient neonatal diabetes mellitus 2 2 HNF1B (3), GATA4 (3) 0.02941 0.22222 5.282e-4 1.075e-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 1.058e-3 17q12 microdeletion syndrome Uterine cancer 1 1 HNF1B (2) 0.16667 0.50000 5.195e-4 1.058e-3 145 Renovascular hypertension Ventricular ectopy 1 1 NOS3 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Anodontia Verloes-bourguignon syndrome 1 1 LTBP3 (2) 0.16667 0.50000 5.195e-4 1.058e-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 1.058e-3 106 Doyne honeycomb retinal dystrophy Visual system disorder 1 1 EFEMP1 (7) 0.16667 0.50000 5.195e-4 1.058e-3 Pancreatic cyst Von hippel-lindau syndrome 1 1 VHL (7) 0.16667 0.50000 5.195e-4 1.058e-3 403 Vulto-van silfhout-de vries syndrome Yorifuji okuno syndrome 1 0 DLG4 (1) 0.16667 0.50000 5.195e-4 1.058e-3 106 Congenital scoliosis Weill-marchesani syndrome 1 1 FBN1 (7) 0.16667 0.50000 5.195e-4 1.058e-3 28 Cardiac injury Wernicke-korsakoff syndrome 1 1 ALDH2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Polycystic kidney disease with tuberous sclerosis Xanthinuria 1 1 TSC2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 48 Polycystic kidneys, severe infantile with tuberous sclerosis Xanthinuria 1 0 TSC2 (1) 0.16667 0.50000 5.195e-4 1.058e-3 48 Deafness, digenic Xeroderma 1 1 GJB2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 68 Senter syndrome Xeroderma 1 0 GJB2 (1) 0.16667 0.50000 5.195e-4 1.058e-3 68 Hemimelia of limb Multiple synostoses syndrome 1 1 NOG (4) 0.16667 0.50000 5.195e-4 1.058e-3 Nephrotic syndrome, idiopathic, steroid-resistant Nephrotic syndrome, steroid-resistant, autosomal recessive 1 1 NPHS2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Basal cell nevus syndrome nevoid basal cell carcinoma syndrome 1 1 PTCH1 (4) 0.16667 0.50000 5.195e-4 1.058e-3 nevoid basal cell carcinoma syndrome Rieger syndrome 1 1 PTCH1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Bladder cancer Osteogenic sarcoma 1 0 RB1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Epilepsy with auditory features lissencephaly with cerebellar hypoplasia 1 1 RELN (3) 0.16667 0.50000 5.195e-4 1.058e-3 209 Esophageal varices Sweat gland disease 1 1 SST (2) 0.16667 0.50000 5.195e-4 1.058e-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 1.058e-3 Cenani-lenz syndrome Gastrointestinal neoplasms 1 1 APC (3) 0.16667 0.50000 5.195e-4 1.058e-3 37 Glycoprotein ia deficiency Thrombasthenia 1 0 ITGA2 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Gorlin syndrome Tessier facial cleft 1 1 PTCH2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 25 Alport syndrome Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1 1 COL4A3 (6) 0.16667 0.50000 5.195e-4 1.058e-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 1.058e-3 91 Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis 1 0 IL1RN (1) 0.16667 0.50000 5.195e-4 1.058e-3 219 Iron-refractory iron deficiency anemia Microcytic anemia 1 1 TMPRSS6 (4) 0.16667 0.50000 5.195e-4 1.058e-3 Jervell and lange-nielsen syndrome Paroxysmal atrial fibrillation 1 1 KCNQ1 (7) 0.16667 0.50000 5.195e-4 1.058e-3 Jervell and lange-nielsen syndrome Polymorphic ventricular tachycardia 1 1 KCNQ1 (7) 0.16667 0.50000 5.195e-4 1.058e-3 Arteriovenous hemangioma juvenile polyposis syndrome 1 1 ENG (2) 0.16667 0.50000 5.195e-4 1.058e-3 Lateral temporal lobe epilepsy lissencephaly with cerebellar hypoplasia 1 1 RELN (2) 0.16667 0.50000 5.195e-4 1.058e-3 209 Juvenile hyperuricemic nephropathy Liddle syndrome 1 1 REN (5) 0.16667 0.50000 5.195e-4 1.058e-3 70 Liddle syndrome Tonne-kalscheuer syndrome 1 1 REN (2) 0.16667 0.50000 5.195e-4 1.058e-3 70 Male breast neoplasms Osteogenic sarcoma 1 1 CHEK2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Cerebral microangiopathy Malignant peripheral nerve sheath tumor 1 1 HTRA1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Cerebral microangiopathy Malignant triton tumor 1 1 HTRA1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Micropenis Yunis-varon syndrome 1 1 FIG4 (5) 0.16667 0.50000 5.195e-4 1.058e-3 311 Mitochondrial myopathy with sideroblastic anemia Periodic paralysis 1 0 ATP6 (1) 0.16667 0.50000 5.195e-4 1.058e-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 1.058e-3 122 Bestrophinopathy Retinitis pigmentosa, digenic 1 0 PRPH2 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Doyne honeycomb retinal dystrophy Retinitis pigmentosa, digenic 1 0 PRPH2 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Ritscher-schinzler syndrome Stress urinary incontinence 1 1 WASHC5 (6) 0.16667 0.50000 5.195e-4 1.058e-3 Benign epithelial tumor of salivary glands Salivary gland disease 1 1 PLAG1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 Paroxysmal dystonic choreoathetosis Seizures, tonic-clonic, photosensitive 1 1 KCNJ10 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Sjogren-larsson syndrome Weber-cockayne syndrome 1 0 KRT14 (1) 0.16667 0.50000 5.195e-4 1.058e-3 270 Smith-lemli-opitz syndrome Syndactyly of the toes 1 1 DHCR7 (7) 0.16667 0.50000 5.195e-4 1.058e-3 Spectrum and myeloid neoplasm risk Tumoral calcinosis 1 1 SAMD9 (5) 0.16667 0.50000 5.195e-4 1.058e-3 Greither disease Hallermanns syndrome 1 0 GJA1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 107 Greither disease Schwartz-lelek syndrome 1 0 GJA1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Anonychia Hallopeau siemens disease 1 0 COL7A1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Anti-glomerular basement membrane disease Haploinsufficiency 1 0 CTLA4 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Craniopharyngioma Hepatoblastoma 1 1 CTNNB1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 81 Horizontal gaze palsy with progressive scoliosis Mirror movements 1 1 DCC (6) 0.16667 0.50000 5.195e-4 1.058e-3 430 Hypercapnia Urination disorders 1 1 NPPA (2) 0.16667 0.50000 5.195e-4 1.058e-3 Hyperexplexia hereditary Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1 1 GPHN (2) 0.16667 0.50000 5.195e-4 1.058e-3 322 Optic nerve disorder Overactive bladder 1 1 EDN1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Aniridia-cerebellar ataxia-intellectual disability syndrome Paranoid schizophrenia 1 1 PAX6 (3) 0.16667 0.50000 5.195e-4 1.058e-3 Congenital aniridia Paranoid schizophrenia 1 1 PAX6 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Optic nerve disorder Paranoid schizophrenia 1 0 PAX6 (1) 0.16667 0.50000 5.195e-4 1.058e-3 25 Choroidal dystrophy Patterned macular dystrophy 1 1 PRPH2 (5) 0.16667 0.50000 5.195e-4 1.058e-3 Choroidal sclerosis Patterned macular dystrophy 1 1 PRPH2 (4) 0.16667 0.50000 5.195e-4 1.058e-3 Peroxisomal disorder Refsum disease 1 1 PHYH (2) 0.16667 0.50000 5.195e-4 1.058e-3 Digenic hemochromatosis Polymyalgia rheumatica 1 1 HFE (2) 0.16667 0.50000 5.195e-4 1.058e-3 Polymyalgia rheumatica Variegate porphyria 1 0 HFE (1) 0.16667 0.50000 5.195e-4 1.058e-3 251 Digenic hemochromatosis Porphyruria 1 1 HFE (2) 0.16667 0.50000 5.195e-4 1.058e-3 Birk-barel syndrome Mulibrey nanism 1 0 TRPM3 (1) 0.16667 0.50000 5.195e-4 1.058e-3 122 Bladder neck obstruction Uterine cancer 1 1 CYP19A1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Bladder neck obstruction Pericardial effusion 1 1 PTGS2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 215 Blast crisis Hyper-immunoglobulin m syndrome 1 1 AICDA (2) 0.16667 0.50000 5.195e-4 1.058e-3 266 Bloom syndrome Hyper-immunoglobulin m syndrome 1 1 UNG (2) 0.16667 0.50000 5.195e-4 1.058e-3 Bone mineral density quantitative trait locus Camurati-engelmann syndrome 1 1 LRP5 (3) 0.16667 0.50000 5.195e-4 1.058e-3 123 Bronchiolitis Diffuse panbronchiolitis 1 1 MUC5B (2) 0.16667 0.50000 5.195e-4 1.058e-3 163 Capillary leak syndrome Coronary vasospasm 1 1 PON1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 326 Carcinoid tumor Lymphatic system disease 1 0 SLC12A2 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Cardiac injury Cholesterol embolism 1 1 PLAU (2) 0.16667 0.50000 5.195e-4 1.058e-3 29 Cardiac injury Intracranial embolism and thrombosis 1 1 PLAU (2) 0.16667 0.50000 5.195e-4 1.058e-3 29 Cataract-glaucoma syndrome Mulibrey nanism 1 1 TRPM3 (2) 0.16667 0.50000 5.195e-4 1.058e-3 122 Colorectal cancer susceptibility non-severe combined immunodeficiency due to polymerase delta deficiency 1 1 POLD1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 356 Colorectal cancer susceptibility Xfe progeroid syndrome 1 1 POLE (3) 0.16667 0.50000 5.195e-4 1.058e-3 Anaplastic astrocytoma Combined d-2- and l-2-hydroxyglutaric aciduria 1 1 IDH2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Anaplastic oligodendroglioma Combined d-2- and l-2-hydroxyglutaric aciduria 1 1 IDH2 (2) 0.16667 0.50000 5.195e-4 1.058e-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 1.058e-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 1.058e-3 Anisometropia Concussion 1 1 PTEN (3) 0.16667 0.50000 5.195e-4 1.058e-3 317 Concussion Lipomatosis 1 1 PTEN (3) 0.16667 0.50000 5.195e-4 1.058e-3 317 Congenital keratoglobus Primary congenital glaucoma 1 0 LTBP2 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Congenital keratoglobus Weill-marchesani syndrome 1 1 LTBP2 (6) 0.16667 0.50000 5.195e-4 1.058e-3 Congenital mirror movements Horizontal gaze palsy with progressive scoliosis 1 1 DCC (3) 0.16667 0.50000 5.195e-4 1.058e-3 430 Coronary vasospasm Renovascular hypertension 1 1 NOS3 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Cortical dysplasia Cortical occipital malformations 1 0 TBR1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 220 Cortical dysplasia Developmental delay with language impairment and movement disorder 1 1 TBR1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 220 Cortical dysplasia Intellectual developmental disorder autism speech 1 1 TBR1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 220 Craniofrontonasal dysplasia X-linked hypohidrotic ectodermal dysplasia 1 1 EDA (3) 0.16667 0.50000 5.195e-4 1.058e-3 76 Cri-du-chat syndrome Macrocytic anemia 1 1 TERT (2) 0.16667 0.50000 5.195e-4 1.058e-3 Anaplastic astrocytoma D-2-hydroxyglutaric aciduria 1 1 IDH2 (5) 0.16667 0.50000 5.195e-4 1.058e-3 Anaplastic oligodendroglioma D-2-hydroxyglutaric aciduria 1 1 IDH2 (5) 0.16667 0.50000 5.195e-4 1.058e-3 Congenital hypothyroidism due to absence of thyroid gland Deletion 5q35 syndrome 1 1 NKX2-5 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Deoxyguanosine kinase deficiency Interferonopathy 1 1 SAMHD1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 Developmental delay with language impairment and movement disorder Dopa-responsive dystonia 1 1 NR4A2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Alport syndrome Diffuse mesangial sclerosis 1 1 COL4A4 (6) 0.16667 0.50000 5.195e-4 1.058e-3 91 Alport syndrome, x-linked Diffuse mesangial sclerosis 1 1 COL4A4 (2) 0.16667 0.50000 5.195e-4 1.058e-3 91 Diffuse palmoplantar keratoderma Keratosis palmoplantaris striata 1 1 DSG1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 Diffuse panbronchiolitis Extrinsic allergic alveolitis 1 1 MUC5B (2) 0.16667 0.50000 5.195e-4 1.058e-3 163 Dna repair-deficiency disorders Werner syndrome 1 1 WRN (7) 0.16667 0.50000 5.195e-4 1.058e-3 Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Kidney and ureter calculus 1 0 SLC34A1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 De toni-debre-fanconi syndrome Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis 1 0 SLC34A1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Fanconi renotubular syndrome 1 1 SLC34A1 (5) 0.16667 0.50000 5.195e-4 1.058e-3 Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Idiopathic infantile hypercalcemia 1 1 SLC34A1 (6) 0.16667 0.50000 5.195e-4 1.058e-3 Dominant hypophosphatemia with nephrolithiasis or osteoporosis Kidney and ureter calculus 1 1 SLC34A1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 De toni-debre-fanconi syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis 1 1 SLC34A1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 Dominant hypophosphatemia with nephrolithiasis or osteoporosis Fanconi renotubular syndrome 1 1 SLC34A1 (7) 0.16667 0.50000 5.195e-4 1.058e-3 Dominant hypophosphatemia with nephrolithiasis or osteoporosis Idiopathic infantile hypercalcemia 1 1 SLC34A1 (6) 0.16667 0.50000 5.195e-4 1.058e-3 Dystonia, dopa-responsive, with or without hyperphenylalaninemia Hyperkalemia 1 1 INS (2) 0.16667 0.50000 5.195e-4 1.058e-3 Anonychia Dystrophic epidermolysis bullosa 1 1 COL7A1 (8) 0.16667 0.50000 5.195e-4 1.058e-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 1.058e-3 105 Endocrine neoplasms Nephrotic syndrome, steroid-resistant, autosomal recessive 1 1 AXDND1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Catel-manzke syndrome Vertebral, cardiac, renal, and limb defects syndrome 1 1 KYNU (5) 0.16667 0.50000 5.195e-4 1.058e-3 421 Bile duct calculus Cavitary optic disk anomaly 1 0 APOE (1) 0.16667 0.50000 5.195e-4 1.058e-3 125 Cecal neoplasms Craniopharyngioma 1 1 CTNNB1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 81 Cecal neoplasms Osteopathia striata with cranial sclerosis 1 1 CTNNB1 (3) 0.16667 0.50000 5.195e-4 1.058e-3 81 Cecal neoplasms Vascular calcification 1 1 CTNNB1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 81 Central nervous system demyelinating disease Deafness enamel hypoplasia nail defects 1 1 PEX6 (2) 0.16667 0.50000 5.195e-4 1.058e-3 141 Central nervous system demyelinating disease Deafness-enamel hypoplasia-nail defects syndrome 1 1 PEX6 (2) 0.16667 0.50000 5.195e-4 1.058e-3 141 Cerebral cortical atrophy Childhood-onset spinal muscular atrophy 1 1 BICD2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Cerebral cortical atrophy Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 1 TYROBP (5) 0.16667 0.50000 5.195e-4 1.058e-3 348 Anaplastic oligodendroglioma Cerebroretinal microangiopathy with calcifications and cysts 1 1 POT1 (5) 0.16667 0.50000 5.195e-4 1.058e-3 Camptocormia Chronic progressive external ophthalmoplegia 1 1 RRM2B (2) 0.16667 0.50000 5.195e-4 1.058e-3 Autoimmune pancreatitis Churg-strauss syndrome 1 1 HLA-DQB1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 1 Churg-strauss syndrome Tongue cancer 1 0 HLA-DQB1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 1 Clear cell papillary renal cell carcinoma Hepatic adenoma 1 1 HNF1A (5) 0.16667 0.50000 5.195e-4 1.058e-3 Clear cell papillary renal cell carcinoma Insulin resistant diabetes mellitus 1 1 HNF1A (2) 0.16667 0.50000 5.195e-4 1.058e-3 17q11 microdeletion syndrome Middle aortic syndrome 1 1 NF1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 71 17q11 microdeletion syndrome Neurofibromatosis 1 1 NF1 (6) 0.16667 0.50000 5.195e-4 1.058e-3 71 22q13 monosomy syndrome Dystonia, dopa-responsive, with or without hyperphenylalaninemia 1 1 INS (2) 0.16667 0.50000 5.195e-4 1.058e-3 22q13.3 deletion syndrome X-linked diffuse leiomyomatosis with alport syndrome 1 0 COL4A5 (1) 0.16667 0.50000 5.195e-4 1.058e-3 22q13.3 deletion syndrome Hyperkalemia 1 1 INS (2) 0.16667 0.50000 5.195e-4 1.058e-3 224 Acrofacial dysostosis Burn-mckeown syndrome 1 1 POLR1A (2) 0.16667 0.50000 5.195e-4 1.058e-3 Amed syndrome Cardiac injury 1 1 ALDH2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Anaplastic oligodendroglioma Central nervous system disease 1 1 IDH2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Anauxetic dysplasia Cartilage-hair hypoplasia 1 0 CCDC107 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Androgen insensitivity syndrome Male breast neoplasms 1 1 AR (7) 0.16667 0.50000 5.195e-4 1.058e-3 204 Angiomatoid fibrous histiocytoma Extraskeletal ewing sarcoma 1 0 EWSR1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Anti-glomerular basement membrane disease Thromboangiitis obliterans 1 0 HLA-DRB1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 254 Antisocial personality disorder Familial mediterranean fever 1 0 ABCB1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 120 Aortic atherosclerosis Combined molybdoflavoprotein enzyme deficiency 1 1 DAAM2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Apolipoprotein b hypobetalipoproteinemia Autoimmune pancreatitis 1 1 HLA-DQB1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 1 Apolipoprotein b hypobetalipoproteinemia Tongue cancer 1 0 HLA-DQB1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 1 Arginine vasopressin resistance Diabetes insipidus 1 1 AQP2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Arteritis Capillary leak syndrome 1 1 PON1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Arteritis Congenital thrombotic thrombocytopenic purpura 1 1 PROC (2) 0.16667 0.50000 5.195e-4 1.058e-3 325 Arthralgia Hyper-immunoglobulin d syndrome 1 1 MVK (4) 0.16667 0.50000 5.195e-4 1.058e-3 327 Auriculocondylar syndrome Optic nerve disorder 1 1 EDN1 (7) 0.16667 0.50000 5.195e-4 1.058e-3 25 Autoinflammation with infantile enterocolitis Cryopyrin-associated periodic syndrome 1 1 NLRC4 (3) 0.16667 0.50000 5.195e-4 1.058e-3 autosomal recessive primary microcephaly Corpus callosum agenesis 1 1 CDK5RAP2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 autosomal recessive primary microcephaly Urethral syndrome 1 1 CDK5RAP2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Basal cell nevus syndrome Bifid nose 1 1 GLI2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 169 Basal cell nevus syndrome Cleft face 1 1 GLI2 (2) 0.16667 0.50000 5.195e-4 1.058e-3 169 Becker generalized myotonia Smith-lemli-opitz syndrome 1 0 CLCN1 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Benign hypercalcemia Kidney and ureter calculus 1 0 CASR (1) 0.16667 0.50000 5.195e-4 1.058e-3 Beta-mannosidosis Usher syndrome type 2 1 1 ADGRV1 (2) 0.16667 0.50000 5.195e-4 1.058e-3 199 Beta-mannosidosis Combined saposin deficiency 1 0 CDH23 (1) 0.16667 0.50000 5.195e-4 1.058e-3 Beta-mannosidosis Pituitary adenoma 1 1 CDH23 (2) 0.16667 0.50000 5.195e-4 1.058e-3 Bifunctional enzyme deficiency De toni-debre-fanconi syndrome 1 1 EHHADH (2) 0.16667 0.50000 5.195e-4 1.058e-3 Bifunctional enzyme deficiency Fanconi renotubular syndrome 1 1 EHHADH (6) 0.16667 0.50000 5.195e-4 1.058e-3 Bifunctional enzyme deficiency Peroxisomal disorder 1 1 HSD17B4 (4) 0.16667 0.50000 5.195e-4 1.058e-3 Arginase deficiency Urea cycle disorder 1 1 ARG1 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Argininosuccinic aciduria Urea cycle disorder 1 1 ASL (7) 0.11111 1.00000 5.195e-4 1.058e-3 202 Arhinia-choanal atresia-microphthalmia syndrome Facial nerve disorder 1 1 SMCHD1 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome Rhabdomyolysis 1 1 ANO5 (2) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-3 ATF6-related retinopathy Congenital nystagmus 1 1 ATF6 (2) 0.11111 1.00000 5.195e-4 1.058e-3 ATM-related cancer predisposition B-cell chronic lymphocytic leukemia 1 1 ATM (2) 0.11111 1.00000 5.195e-4 1.058e-3 atypical hemolytic-uremic syndrome with B factor anomaly C3 glomerulonephritis 1 1 CFB (3) 0.11111 1.00000 5.195e-4 1.058e-3 32 atypical hemolytic-uremic syndrome with B factor anomaly Mesangiocapillary glomerulonephritis 1 1 CFB (2) 0.11111 1.00000 5.195e-4 1.058e-3 32 atypical hemolytic-uremic syndrome with C3 anomaly C3 glomerulonephritis 1 1 C3 (3) 0.11111 1.00000 5.195e-4 1.058e-3 atypical hemolytic-uremic syndrome with C3 anomaly Mesangiocapillary glomerulonephritis 1 1 C3 (2) 0.11111 1.00000 5.195e-4 1.058e-3 atypical hemolytic-uremic syndrome with DGKE deficiency Mesangiocapillary glomerulonephritis 1 1 DGKE (2) 0.11111 1.00000 5.195e-4 1.058e-3 Auricle malformation Branchial arch abnormalities syndrome 1 1 KMT2D (3) 0.11111 1.00000 5.195e-4 1.058e-3 Auricle malformation Branchial cleft anomalies 1 0 KMT2D (1) 0.11111 1.00000 5.195e-4 1.058e-3 Autoinflammation with arthritis and vasculitis Frontotemporal dementia with motor neuron disease 1 1 TBK1 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Autoinflammation, panniculitis, and dermatosis syndrome Calcium metabolism disorders 1 1 OTULIN (6) 0.11111 1.00000 5.195e-4 1.058e-3 208 autosomal dominant osteopetrosis 2 Osteosclerosis 1 1 CLCN7 (2) 0.11111 1.00000 5.195e-4 1.058e-3 265 Accessory skin tag autosomal recessive cutis laxa type 2A 1 1 ATP6V0A2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Accessory skin tag autosomal recessive cutis laxa type 2B 1 1 PYCR1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 94 Accessory skin tag autosomal recessive cutis laxa type 2C 1 1 ATP6V1E1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 94 Accessory skin tag autosomal recessive cutis laxa type 2D 1 1 ATP6V1A (2) 0.11111 1.00000 5.195e-4 1.058e-3 94 autosomal recessive osteopetrosis 1 Osteosclerosis 1 1 TCIRG1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 autosomal recessive osteopetrosis 2 Osteosclerosis 1 1 TNFSF11 (2) 0.11111 1.00000 5.195e-4 1.058e-3 autosomal recessive osteopetrosis 4 Osteosclerosis 1 1 CLCN7 (2) 0.11111 1.00000 5.195e-4 1.058e-3 265 Adrenocortical carcinoma B-cell chronic lymphocytic leukemia 1 1 TP53 (2) 0.11111 1.00000 5.195e-4 1.058e-3 88 B-cell chronic lymphocytic leukemia Choroid plexus carcinoma 1 1 TP53 (2) 0.11111 1.00000 5.195e-4 1.058e-3 88 B-cell chronic lymphocytic leukemia Choroid plexus papilloma 1 1 TP53 (3) 0.11111 1.00000 5.195e-4 1.058e-3 88 BAP1-related tumor predisposition syndrome Paraganglioma 1 1 BAP1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Bare lymphocyte syndrome Beta2-microglobulinic amyloidosis 1 0 B2M (1) 0.11111 1.00000 5.195e-4 1.058e-3 128 Bare lymphocyte syndrome Hypergammaglobulinemia 1 1 B2M (2) 0.11111 1.00000 5.195e-4 1.058e-3 128 Benign paroxysmal torticollis of infancy Episodic ataxia 1 1 CACNA1A (6) 0.11111 1.00000 5.195e-4 1.058e-3 55 Beta-ureidopropionase deficiency Cryptogenic west syndrome 1 1 UPB1 (6) 0.11111 1.00000 5.195e-4 1.058e-3 337 Congenital myotonia Metachromatic leukodystrophy 1 1 CLCN1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital nystagmus Neurooculorenal syndrome 1 1 ROBO1 (4) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital nystagmus Retinitis pigmentosa with choroidal involvement 1 1 RPE65 (4) 0.11111 1.00000 5.195e-4 1.058e-3 400 Congenital sensorineural hearing loss Waardenburg syndrome type 2 1 1 MITF (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital sensorineural hearing loss Deafness with congenital and adult-onset progressive leukodystrophy 1 1 KARS1 (3) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-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 1.058e-3 Congenitally uncorrected transposition of the great arteries Double outlet right ventricle 1 1 CFC1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 56 B-cell chronic lymphocytic leukemia Conjunctival telangiectasis 1 1 ATM (2) 0.11111 1.00000 5.195e-4 1.058e-3 Continuous spike and wave during sleep syndrome Pyridoxine dependent epilepsy 1 1 GRIN2A (2) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-3 Congenital hand deformities Craniofacial deafness hand syndrome 1 1 PAX3 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Auricle malformation Craniofaciocardiohepatic syndrome 1 1 AMOTL1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Cryptogenic west syndrome Eye pain 1 1 POMC (2) 0.11111 1.00000 5.195e-4 1.058e-3 Cutaneous polyarteritis nodosa Ruptured abdominal aortic aneurysm 1 0 SMAD3 (1) 0.11111 1.00000 5.195e-4 1.058e-3 64 Cutaneous polyarteritis nodosa Ruptured aortic aneurysm 1 0 SMAD3 (1) 0.11111 1.00000 5.195e-4 1.058e-3 64 Cutaneous polyarteritis nodosa Ruptured thoracic aortic aneurysm 1 0 SMAD3 (1) 0.11111 1.00000 5.195e-4 1.058e-3 64 Cutaneous polyarteritis nodosa Thoracoabdominal aortic aneurysm 1 0 SMAD3 (1) 0.11111 1.00000 5.195e-4 1.058e-3 64 Accessory skin tag cutis laxa, autosomal dominant 1 1 1 ELN (2) 0.11111 1.00000 5.195e-4 1.058e-3 Accessory skin tag cutis laxa, autosomal recessive, type 1B 1 1 EFEMP2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 cutis laxa, autosomal recessive, type 1B Ruptured abdominal aortic aneurysm 1 1 EFEMP2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 64 cutis laxa, autosomal recessive, type 1B Ruptured aortic aneurysm 1 1 EFEMP2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 64 cutis laxa, autosomal recessive, type 1B Ruptured thoracic aortic aneurysm 1 1 EFEMP2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 64 Cryptogenic west syndrome D-bifunctional protein deficiency 1 1 HSD17B4 (5) 0.11111 1.00000 5.195e-4 1.058e-3 D-bifunctional protein deficiency Xx gonadal dysgenesis syndrome 1 1 HSD17B4 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Accessory skin tag De barsy syndrome 1 1 ALDH18A1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Bilateral parasagittal parieto-occipital polymicrogyria Penile hypospadia 1 1 FIG4 (4) 0.11111 1.00000 5.195e-4 1.058e-3 Bisphosphoglycerate mutase deficiency Secondary polycythemia 1 1 BPGM (3) 0.11111 1.00000 5.195e-4 1.058e-3 24 Blomstrand lethal chondrodysplasia Metaphyseal chondrodysplasia 1 1 PTH1R (4) 0.11111 1.00000 5.195e-4 1.058e-3 Body mass index Growth retardation, developmental delay, and facial dysmorphism 1 1 FTO (3) 0.11111 1.00000 5.195e-4 1.058e-3 Body mass index Growth retardation, developmental delay, coarse facies, and early death 1 1 FTO (3) 0.11111 1.00000 5.195e-4 1.058e-3 Bohring-opitz syndrome Rubinstein-taybi syndrome 1 1 ASXL1 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Bone marrow neoplasms Mucositis 1 0 CSF3 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Bosma arhinia microphthalmia syndrome Facial nerve disorder 1 1 SMCHD1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Brachydactyly-syndactyly syndrome Penile hypospadia 1 1 HOXD13 (5) 0.11111 1.00000 5.195e-4 1.058e-3 111 Brachymesophalangy Penile hypospadia 1 0 HOXD13 (1) 0.11111 1.00000 5.195e-4 1.058e-3 111 Brown oculocutaneous albinism Congenital nystagmus 1 0 OCA2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Brown oculocutaneous albinism Prader-willi syndrome 1 1 OCA2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Camptosynpolydactyly Split hand-foot malformation 1 1 BHLHA9 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Carcinoid syndrome Paraganglioma 1 1 SDHD (4) 0.11111 1.00000 5.195e-4 1.058e-3 78 Carcinoid syndrome Pheochromocytoma/paraganglioma syndrome 1 1 SDHD (4) 0.11111 1.00000 5.195e-4 1.058e-3 78 Cataplexy Niemann-pick disease 1 1 NPC1 (8) 0.11111 1.00000 5.195e-4 1.058e-3 231 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 1.058e-3 Combined psap deficiency Metachromatic leukodystrophy 1 1 PSAP (7) 0.11111 1.00000 5.195e-4 1.058e-3 114 Complement pathway abnormality systemic lupus erythematosus related to C1QA 1 1 C1QA (2) 0.11111 1.00000 5.195e-4 1.058e-3 Complex cortical dysplasia with other brain malformations Cortical dysgenesis with pontocerebellar hypoplasia 1 1 TUBB3 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Complex partial epilepsy Familial focal epilepsy with variable foci 1 1 SCN3A (4) 0.11111 1.00000 5.195e-4 1.058e-3 Complex regional pain syndrome primary ciliary dyskinesia 28 1 1 SPAG1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital cataract anterior segment dysgenesis syndrome Posterior polar cataract 1 1 PITX3 (2) 0.11111 1.00000 5.195e-4 1.058e-3 B-cell chronic lymphocytic leukemia Congenital chromosomal disease 1 1 POT1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital chromosomal disease Hoyeraal hreidarsson syndrome 1 0 POT1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital cleft hand Rubinstein-taybi syndrome 1 0 DLX5 (1) 0.11111 1.00000 5.195e-4 1.058e-3 195 Congenital cleft hand Split hand-foot malformation 1 1 DLX5 (7) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital digestive system anomaly Congenital hypoplasia of kidney 1 0 RET (1) 0.11111 1.00000 5.195e-4 1.058e-3 161 Campomelic dysplasia Congenital hand deformities 1 1 SOX9 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Camptomelic dysplasia Congenital hand deformities 1 1 SOX9 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital hand deformities Cooks syndrome 1 1 SOX9 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital hereditary facial paralysis with variable hearing loss syndrome Facial nerve disorder 1 1 HOXB1 (5) 0.11111 1.00000 5.195e-4 1.058e-3 101 Congenital hernia of foramen of bochdalek Visual impairment 1 1 EFEMP1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 152 Congenital high-molecular-weight kininogen deficiency Occupational dermatitis 1 1 KNG1 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital hyperammonemia Urea cycle disorder 1 0 CPS1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 202 Congenital hyperammonemia Hyperammonemia 1 1 CPS1 (3) 0.11111 1.00000 5.195e-4 1.058e-3 202 Congenital hypoplasia of kidney Papillorenal syndrome 1 1 PAX2 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital hypoplasia of kidney focal segmental glomerulosclerosis 7 1 1 PAX2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital hypoplasia of kidney Medullary thyroid cancer 1 1 RET (2) 0.11111 1.00000 5.195e-4 1.058e-3 161 Congenital intrinsic factor deficiency Pernicious anemia 1 1 CBLIF (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital isolated acth deficiency Duodenitis 1 1 TBX19 (5) 0.11111 1.00000 5.195e-4 1.058e-3 1 3-methylglutaconic aciduria Costeff optic atrophy syndrome 1 1 OPA3 (2) 0.11111 1.00000 5.195e-4 1.058e-3 3-methylglutaconic aciduria optic atrophy 3 1 1 OPA3 (2) 0.11111 1.00000 5.195e-4 1.058e-3 3-methylglutaconic aciduria Dilated cardiomyopathy with ataxia 1 1 DNAJC19 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Acatalasia Turner syndrome 1 1 CAT (4) 0.11111 1.00000 5.195e-4 1.058e-3 294 Acid sphingomyelinase deficiency Niemann-pick disease 1 1 SMPD1 (7) 0.11111 1.00000 5.195e-4 1.058e-3 Acrokeratosis verruciformis Rhabdomyolysis 1 1 ATP2A2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 191 Aicardi goutieres syndrome IFIH1-related type 1 interferonopathy 1 1 IFIH1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Aicardi goutieres syndrome Type i interferonopathy 1 1 TREX1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Alexander disease Metachromatic leukodystrophy 1 1 GFAP (3) 0.11111 1.00000 5.195e-4 1.058e-3 114 amyloidosis, hereditary systemic 6 Bare lymphocyte syndrome 1 1 B2M (2) 0.11111 1.00000 5.195e-4 1.058e-3 128 amyotrophic lateral sclerosis type 1 Turner syndrome 1 1 SOD1 (3) 0.11111 1.00000 5.195e-4 1.058e-3 294 amyotrophic lateral sclerosis type 10 Frontotemporal dementia with motor neuron disease 1 1 TARDBP (4) 0.11111 1.00000 5.195e-4 1.058e-3 amyotrophic lateral sclerosis type 11 Penile hypospadia 1 1 FIG4 (2) 0.11111 1.00000 5.195e-4 1.058e-3 amyotrophic lateral sclerosis type 23 Connective tissue neoplasm 1 1 ANXA11 (2) 0.11111 1.00000 5.195e-4 1.058e-3 amyotrophic lateral sclerosis type 6 Frontotemporal dementia with motor neuron disease 1 1 FUS (2) 0.11111 1.00000 5.195e-4 1.058e-3 119 amyotrophic lateral sclerosis type 6 Liposarcoma 1 1 FUS (2) 0.11111 1.00000 5.195e-4 1.058e-3 Developmental delay with autism spectrum disorder Prader-willi syndrome 1 1 HERC2 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Auricle malformation diamond-blackfan anemia 6 1 1 RPL5 (2) 0.11111 1.00000 5.195e-4 1.058e-3 240 Digestive system neoplasms Dysferlinopathy 1 1 DYSF (3) 0.11111 1.00000 5.195e-4 1.058e-3 Digestive system neoplasms H syndrome 1 1 SLC29A3 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Digestive system neoplasms Intracranial hypertension 1 1 SLC4A10 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Digestive system neoplasms myoglobinuria, acute recurrent, autosomal recessive 1 1 LPIN1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Direct inguinal hernia Ruptured abdominal aortic aneurysm 1 0 TGFBR2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Direct inguinal hernia Ruptured aortic aneurysm 1 0 TGFBR2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Direct inguinal hernia Ruptured thoracic aortic aneurysm 1 0 TGFBR2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Direct inguinal hernia Thoracoabdominal aortic aneurysm 1 0 TGFBR2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Distal anoctaminopathy Rhabdomyolysis 1 1 ANO5 (2) 0.11111 1.00000 5.195e-4 1.058e-3 191 Dkc1-related disorder Hoyeraal hreidarsson syndrome 1 1 DKC1 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Double outlet right ventricle Interrupted aortic arch 1 0 NKX2-5 (1) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-3 duane retraction syndrome 2 Robinow syndrome 1 1 CHN1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 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 1.058e-3 77 dyskeratosis congenita, autosomal dominant 3 Hoyeraal hreidarsson syndrome 1 1 TINF2 (3) 0.11111 1.00000 5.195e-4 1.058e-3 dyskeratosis congenita, x-linked Hoyeraal hreidarsson syndrome 1 1 DKC1 (5) 0.11111 1.00000 5.195e-4 1.058e-3 dysosteosclerosis Osteosclerosis 1 1 TCIRG1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition Secondary polycythemia 1 1 EGLN1 (4) 0.11111 1.00000 5.195e-4 1.058e-3 Eiken skeletal dysplasia Metaphyseal chondrodysplasia 1 1 PTH1R (6) 0.11111 1.00000 5.195e-4 1.058e-3 Central hypothyroidism Congenital nystagmus 1 0 ROBO1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Charcot-Marie-Tooth disease type 4B3 Charcot-marie-tooth disease, x-linked 1 1 SBF1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 13 Childhood-onset sensorineural hearing impairment Xx gonadal dysgenesis syndrome 1 0 PRORP (1) 0.11111 1.00000 5.195e-4 1.058e-3 353 Cholesterol ester storage disease Niemann-pick disease 1 1 LIPA (5) 0.11111 1.00000 5.195e-4 1.058e-3 Choroid diseases Occupational dermatitis 1 1 IL10 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Choroid diseases Mucositis 1 1 IL10 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Choroidal neovascularization Urologic neoplasms 1 0 VEGFA (1) 0.11111 1.00000 5.195e-4 1.058e-3 Chromosomal instability microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 1 KIF11 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Chromosome 16p13.3 deletion syndrome Rubinstein-taybi syndrome 1 1 CREBBP (7) 0.11111 1.00000 5.195e-4 1.058e-3 195 Chromosome 22q11.2 deletion syndrome Hyperammonemia 1 0 ABCA3 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Chuvash erythrocytosis Secondary polycythemia 1 1 VHL (4) 0.11111 1.00000 5.195e-4 1.058e-3 Citrin deficiency Urea cycle disorder 1 1 SLC25A13 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Cleft palate proliferative retinopathy developmental delay Vitreoretinal degeneration 1 1 LRRC32 (3) 0.11111 1.00000 5.195e-4 1.058e-3 150 Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Osteosclerosis 1 1 CTNNB1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Osteosclerosis 1 1 CTNNB1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Kenny caffey syndrome Osteosclerosis 1 1 TBCE (5) 0.11111 1.00000 5.195e-4 1.058e-3 Accessory skin tag P5CS deficiency 1 1 ALDH18A1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Pantothenate kinase-associated neurodegeneration Rubinstein-taybi syndrome 1 1 PANK2 (4) 0.11111 1.00000 5.195e-4 1.058e-3 Paraneoplastic syndrome Secondary polycythemia 1 1 EPO (3) 0.11111 1.00000 5.195e-4 1.058e-3 Penile hypospadia peroxisome biogenesis disorder due to PEX1 defect 1 1 PEX1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 perrault syndrome 2 Xx gonadal dysgenesis syndrome 1 1 HARS2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 353 perrault syndrome 5 Xx gonadal dysgenesis syndrome 1 1 TWNK (2) 0.11111 1.00000 5.195e-4 1.058e-3 Prader-willi syndrome Schaaf-yang syndrome 1 1 MAGEL2 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Liposarcoma silver-russell syndrome 5 1 1 HMGA2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 361 17q11.2 microduplication syndrome Liposarcoma 1 1 NF1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Cervical lymphadenopathy Liposarcoma 1 1 NF1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Liposarcoma Watson syndrome 1 1 NF1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 loeys-dietz syndrome 2 Ruptured abdominal aortic aneurysm 1 1 TGFBR2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 loeys-dietz syndrome 2 Ruptured aortic aneurysm 1 1 TGFBR2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 loeys-dietz syndrome 2 Ruptured thoracic aortic aneurysm 1 1 TGFBR2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 loeys-dietz syndrome 2 Thoracoabdominal aortic aneurysm 1 1 TGFBR2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 lysosomal acid lipase deficiency Niemann-pick disease 1 1 LIPA (3) 0.11111 1.00000 5.195e-4 1.058e-3 Double outlet right ventricle megalencephaly-polydactyly syndrome 1 1 MYCN (2) 0.11111 1.00000 5.195e-4 1.058e-3 Liposarcoma melanoma, cutaneous malignant, susceptibility to, 3 1 1 CDK4 (3) 0.11111 1.00000 5.195e-4 1.058e-3 361 membranoproliferative glomerulonephritis Mesangiocapillary glomerulonephritis 1 1 DGKE (2) 0.11111 1.00000 5.195e-4 1.058e-3 Metaphyseal chondrodysplasia SF3B4-related acrofacial dysostosis 1 1 SF3B4 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital pectus carinatum Metaphyseal chondrodysplasia 1 0 FBN1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 28 Coronary artery dissection Metaphyseal chondrodysplasia 1 0 FBN1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 28 Metaphyseal chondrodysplasia Metaphyseal enchondromatosis 1 1 IDH1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 microcephaly, seizures, and developmental delay Pyridoxine dependent epilepsy 1 1 PNKP (2) 0.11111 1.00000 5.195e-4 1.058e-3 Middle ear cholesteatoma Pemphigus 1 0 IL2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Miles-carpenter syndrome X-linked syndromic intellectual disability 1 1 ZC4H2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Mucoepidermoid carcinoma Paraganglioma 1 0 BAP1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Metachromatic leukodystrophy mucopolysaccharidosis type 6 1 1 ARSB (2) 0.11111 1.00000 5.195e-4 1.058e-3 114 Microvascular angina Mucositis 1 1 MTHFR (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital hypoplasia of kidney multiple endocrine neoplasia type 2A 1 1 RET (2) 0.11111 1.00000 5.195e-4 1.058e-3 161 Congenital hypoplasia of kidney multiple endocrine neoplasia type 2B 1 1 RET (2) 0.11111 1.00000 5.195e-4 1.058e-3 161 hereditary nonpolyposis colon cancer multiple endocrine neoplasia type 4 1 0 CDKN1B (1) 0.11111 1.00000 5.195e-4 1.058e-3 Capillary malformation-arteriovenous malformation EPHB4-associated vascular malformation spectrum 1 1 EPHB4 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Episodic ataxia Hereditary continuous muscle fiber activity 1 1 KCNA1 (7) 0.11111 1.00000 5.195e-4 1.058e-3 Erythrocytosis due to tissue hypoxemia Secondary polycythemia 1 1 VHL (2) 0.11111 1.00000 5.195e-4 1.058e-3 Eye pain Facial nerve disorder 1 1 POMC (2) 0.11111 1.00000 5.195e-4 1.058e-3 101 Facial nerve disorder Rhabdomyoma 1 1 POMC (2) 0.11111 1.00000 5.195e-4 1.058e-3 101 Facial nerve disorder Sacroiliitis 1 1 POMC (2) 0.11111 1.00000 5.195e-4 1.058e-3 101 C3 glomerulonephritis Factor i deficiency 1 1 CFI (4) 0.11111 1.00000 5.195e-4 1.058e-3 32 Factor i deficiency Mesangiocapillary glomerulonephritis 1 0 CFI (1) 0.11111 1.00000 5.195e-4 1.058e-3 32 Familial focal epilepsy with variable foci Trident hand 1 0 NPR2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Dravet syndrome familial hemiplegic migraine 1 1 SCN1A (4) 0.11111 1.00000 5.195e-4 1.058e-3 Familial telangiectasia cancer syndrome Urologic neoplasms 1 1 ATR (2) 0.11111 1.00000 5.195e-4 1.058e-3 88 Dravet syndrome Female restricted epilepsy with intellectual disability 1 1 PCDH19 (3) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-3 389 Calcium metabolism disorders focal segmental glomerulosclerosis 4, susceptibility to 1 1 APOL1 (2) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-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 1.058e-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 1.058e-3 119 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 1.058e-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 1.058e-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 1.058e-3 119 Double outlet right ventricle Gallbladder agenesis 1 0 MYCN (1) 0.11111 1.00000 5.195e-4 1.058e-3 Gaucher disease due to saposin C deficiency Metachromatic leukodystrophy 1 1 PSAP (5) 0.11111 1.00000 5.195e-4 1.058e-3 114 Genetic infertility Infertility 1 1 SPATA22 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Genetic lipodystrophy hereditary nonpolyposis colon cancer 1 1 EPHX1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Ghosal hematodiaphyseal dysplasia Penile hypospadia 1 1 TBXAS1 (7) 0.11111 1.00000 5.195e-4 1.058e-3 111 gnathodiaphyseal dysplasia Rhabdomyolysis 1 1 ANO5 (2) 0.11111 1.00000 5.195e-4 1.058e-3 191 Gollop-wolfgang complex Split hand-foot malformation 1 1 BHLHA9 (3) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-3 Congenital chromosomal disease Telomere-related pulmonary fibrosis and/or bone marrow failure 1 1 POT1 (4) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital nystagmus Temperature-sensitive oculocutaneous albinism 1 1 TYR (3) 0.11111 1.00000 5.195e-4 1.058e-3 46,xy partial gonadal dysgenesis Testicular regression syndrome 1 1 DHX37 (2) 0.11111 1.00000 5.195e-4 1.058e-3 149 Congenital hand deformities TFAP2B-related congenital heart disease spectrum disorder 1 1 TFAP2B (2) 0.11111 1.00000 5.195e-4 1.058e-3 TSPAN12-related exudative vitreoretinopathy Vitreoretinal degeneration 1 1 TSPAN12 (2) 0.11111 1.00000 5.195e-4 1.058e-3 150 Complex cortical dysplasia with other brain malformations TUBB3-related tubulinopathy 1 1 TUBB3 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Esophageal stenosis Turner syndrome 1 1 SOD2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Adrenocortical carcinoma Urologic neoplasms 1 1 TP53 (2) 0.11111 1.00000 5.195e-4 1.058e-3 88 Choroid plexus carcinoma Urologic neoplasms 1 1 TP53 (3) 0.11111 1.00000 5.195e-4 1.058e-3 88 Choroid plexus papilloma Urologic neoplasms 1 1 TP53 (3) 0.11111 1.00000 5.195e-4 1.058e-3 88 Atrophic retina Vitreoretinal degeneration 1 0 ABCA4 (1) 0.11111 1.00000 5.195e-4 1.058e-3 150 ABCA4-related retinopathy Vitreoretinal degeneration 1 1 ABCA4 (2) 0.11111 1.00000 5.195e-4 1.058e-3 150 Rubinstein-taybi syndrome Waardenburg anophthalmia syndrome 1 0 SMOC1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 195 Vitreoretinal degeneration Wagner syndrome 1 1 VCAN (6) 0.11111 1.00000 5.195e-4 1.058e-3 Wieacker syndrome X-linked syndromic intellectual disability 1 1 ZC4H2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Wieacker-wolff syndrome X-linked syndromic intellectual disability 1 1 ZC4H2 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Niemann-pick disease Wolman disease 1 1 LIPA (6) 0.11111 1.00000 5.195e-4 1.058e-3 Accessory skin tag Wrinkly skin syndrome 1 1 ATP6V0A2 (5) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-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 1.058e-3 13 Charcot-marie-tooth disease, x-linked X-linked hereditary sensory and autonomic neuropathy with deafness 1 1 AIFM1 (6) 0.11111 1.00000 5.195e-4 1.058e-3 X-linked myopathy with excessive autophagy X-linked syndromic intellectual disability 1 1 RPL10 (4) 0.11111 1.00000 5.195e-4 1.058e-3 329 Myeloproliferative disease, unclassifiable Primary familial brain calcification 1 1 PDGFRB (2) 0.11111 1.00000 5.195e-4 1.058e-3 myopathy caused by variation in POMT1 Pyridoxine dependent epilepsy 1 1 POMT1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 myopathy, centronuclear, 6, with fiber-type disproportion Split hand-foot malformation 1 1 MAP3K20 (7) 0.11111 1.00000 5.195e-4 1.058e-3 Metachromatic leukodystrophy Myotonia congenita 1 1 CLCN1 (3) 0.11111 1.00000 5.195e-4 1.058e-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 1.058e-3 13 Niemann-pick disease Visceral acid sphingomyelinase deficiency 1 1 SMPD1 (7) 0.11111 1.00000 5.195e-4 1.058e-3 46,xy partial gonadal dysgenesis NR5A1-related sex development disorder 1 1 NR5A1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 obsolete early infantile epileptic encephalopathy Pyridoxine dependent epilepsy 1 1 GAD1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital nystagmus oculocutaneous albinism type 1 1 1 TYR (2) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital nystagmus oculocutaneous albinism type 2 1 1 OCA2 (2) 0.11111 1.00000 5.195e-4 1.058e-3 oculocutaneous albinism type 2 Prader-willi syndrome 1 1 OCA2 (3) 0.11111 1.00000 5.195e-4 1.058e-3 ornithine carbamoyltransferase deficiency Urea cycle disorder 1 1 OTC (2) 0.11111 1.00000 5.195e-4 1.058e-3 202 ornithine translocase deficiency Urea cycle disorder 1 1 SLC25A15 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Bare lymphocyte syndrome hypoproteinemia, hypercatabolic 1 1 B2M (2) 0.11111 1.00000 5.195e-4 1.058e-3 128 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Occupational dermatitis 1 1 FOXP3 (3) 0.11111 1.00000 5.195e-4 1.058e-3 B-cell chronic lymphocytic leukemia immunodeficiency 84 1 1 IKZF3 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Cerebral embolism Infertility 1 1 KL (2) 0.11111 1.00000 5.195e-4 1.058e-3 Infertility Intracranial embolism 1 1 KL (2) 0.11111 1.00000 5.195e-4 1.058e-3 Infertility spermatogenic failure 5 1 1 AURKC (2) 0.11111 1.00000 5.195e-4 1.058e-3 Intellectual developmental disorder expressive speech dysmorphic Penile hypospadia 1 1 SETBP1 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Intellectual developmental disorder microcephaly cerebellar X-linked syndromic intellectual disability 1 1 CASK (2) 0.11111 1.00000 5.195e-4 1.058e-3 329 Hyperammonemia interstitial lung disease due to ABCA3 deficiency 1 1 ABCA3 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Intestinal cancer Paraganglioma 1 1 SDHD (4) 0.11111 1.00000 5.195e-4 1.058e-3 78 Intestinal cancer Pheochromocytoma/paraganglioma syndrome 1 1 SDHD (4) 0.11111 1.00000 5.195e-4 1.058e-3 78 hereditary nonpolyposis colon cancer karyomegalic interstitial nephritis 1 0 FAN1 (1) 0.11111 1.00000 5.195e-4 1.058e-3 Krabbe disease due to saposin A deficiency Metachromatic leukodystrophy 1 1 PSAP (5) 0.11111 1.00000 5.195e-4 1.058e-3 114 HAVCR2-related cancer predisposition Hemophagocytic lymphohistiocytosis 1 1 HAVCR2 (3) 0.11111 1.00000 5.195e-4 1.058e-3 96 Hemoglobin high altitude adaptation Secondary polycythemia 1 1 EGLN1 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Hemophagocytic lymphohistiocytosis Reducing body myopathy 1 1 FHL1 (4) 0.11111 1.00000 5.195e-4 1.058e-3 Hemophagocytic lymphohistiocytosis Uruguay faciocardio-musculoskeletal syndrome 1 1 FHL1 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Hemophagocytic lymphohistiocytosis X-linked scapuloperoneal muscular dystrophy 1 1 FHL1 (4) 0.11111 1.00000 5.195e-4 1.058e-3 Hereditary chronic pancreatitis neonatal severe primary hyperparathyroidism 1 1 CASR (2) 0.11111 1.00000 5.195e-4 1.058e-3 210 hereditary leiomyomatosis and renal cell cancer Pheochromocytoma/paraganglioma syndrome 1 1 FH (2) 0.11111 1.00000 5.195e-4 1.058e-3 CHEK2-related cancer predisposition hereditary nonpolyposis colon cancer 1 0 CHEK2 (1) 0.11111 1.00000 5.195e-4 1.058e-3 hereditary nonpolyposis colon cancer Small cell ovary carcinoma 1 1 SMARCA4 (2) 0.11111 1.00000 5.195e-4 1.058e-3 261 hereditary nonpolyposis colon cancer thrombocytopenia 10 1 0 PTPRJ (1) 0.11111 1.00000 5.195e-4 1.058e-3 261 Hydrops with lactic acidosis and sideroblastic anemia Xx gonadal dysgenesis syndrome 1 1 LARS2 (5) 0.11111 1.00000 5.195e-4 1.058e-3 353 Hyperammonemia systemic lupus erythematosus, susceptibility to, 1 1 1 TLR5 (3) 0.11111 1.00000 5.195e-4 1.058e-3 202 Hyperammonemia ornithine carbamoyltransferase deficiency 1 1 OTC (3) 0.11111 1.00000 5.195e-4 1.058e-3 202 Hyperesthesia Occupational dermatitis 1 1 KNG1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Hyperammonemia Hyperinsulinism-hyperammonemia syndrome 1 1 GLUD1 (6) 0.11111 1.00000 5.195e-4 1.058e-3 hypopigmentation, organomegaly, and delayed myelination and development Osteosclerosis 1 1 CLCN7 (2) 0.11111 1.00000 5.195e-4 1.058e-3 265 Penile hypospadia Zygodactyly 1 1 HOXD13 (2) 0.11111 1.00000 5.195e-4 1.058e-3 111 Hoyeraal hreidarsson syndrome Revesz debuse syndrome 1 1 TINF2 (3) 0.11111 1.00000 5.195e-4 1.058e-3 Hoyeraal hreidarsson syndrome Revesz syndrome 1 1 TINF2 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Rhabdomyolysis Ventricular outflow obstruction 1 1 INS (2) 0.11111 1.00000 5.195e-4 1.058e-3 Double outlet right ventricle Right isomerism 1 1 GDF1 (3) 0.11111 1.00000 5.195e-4 1.058e-3 56 Robinow syndrome Sweeney-cox syndrome 1 1 TWIST1 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Robinow syndrome TWIST1-related craniosynostosis 1 1 TWIST1 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Congenital nystagmus RPE65-related dominant retinopathy 1 1 RPE65 (2) 0.11111 1.00000 5.195e-4 1.058e-3 400 Congenital nystagmus RPE65-related recessive retinopathy 1 1 RPE65 (2) 0.11111 1.00000 5.195e-4 1.058e-3 400 Penile hypospadia Schinzel-Giedion syndrome 1 1 SETBP1 (2) 0.11111 1.00000 5.195e-4 1.058e-3 Metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia 1 1 COL10A1 (6) 0.11111 1.00000 5.195e-4 1.058e-3 28 Hoyeraal hreidarsson syndrome Short telomere syndrome 1 1 ACD (4) 0.11111 1.00000 5.195e-4 1.058e-3 snowflake vitreoretinal degeneration Vitreoretinal degeneration 1 1 KCNJ13 (2) 0.11111 1.00000 5.195e-4 1.058e-3 150 Charcot-marie-tooth disease, x-linked Spastic ataxia of charlevoix-saguenay 1 1 SACS (2) 0.11111 1.00000 5.195e-4 1.058e-3 Acro-dermo-ungual-lacrimal-tooth syndrome Split hand-foot malformation 1 1 TP63 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Ankyloblepharon-ectodermal defects-cleft lip/palate Split hand-foot malformation 1 1 TP63 (6) 0.11111 1.00000 5.195e-4 1.058e-3 Limb-mammary syndrome Split hand-foot malformation 1 1 TP63 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Rudiger syndrome Split hand-foot malformation 1 1 TP63 (5) 0.11111 1.00000 5.195e-4 1.058e-3 Rosacea Toxic epidermal necrolysis 2 0 IKZF1 (1), SPMIP7 (1) 0.04000 0.14286 5.021e-4 1.058e-3 Brachydactyly Uterine polyp 2 2 BMPR1B (7), TRPS1 (2) 0.04545 0.09524 4.802e-4 1.024e-3 Crest syndrome Mixed connective tissue disease 2 1 FBN1 (1), HLA-DRB1 (2) 0.04545 0.09524 4.802e-4 1.024e-3 Language development disorders Specific language disorder 2 2 CNTNAP2 (2), FOXP2 (4) 0.04545 0.10526 4.606e-4 9.823e-4 Bell's palsy Peritoneal disease 2 0 DISC1 (1), ERBB4 (1) 0.03125 0.22222 4.601e-4 9.813e-4 Arima syndrome CEP290-related ciliopathy 1 1 CEP290 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Arima syndrome joubert syndrome 14 1 1 TMEM237 (2) 0.12500 1.00000 4.546e-4 9.697e-4 arrhythmogenic right ventricular dysplasia 5 Emery-dreifuss muscular dystrophy 1 1 TMEM43 (6) 0.12500 1.00000 4.546e-4 9.697e-4 83 arthrogryposis multiplex congenita 3, myogenic type Emery-dreifuss muscular dystrophy 1 1 SYNE1 (7) 0.12500 1.00000 4.546e-4 9.697e-4 Arthrogryposis with ectodermal dysplasia Pendred syndrome 1 0 OTOF (1) 0.12500 1.00000 4.546e-4 9.697e-4 157 Arthrogryposis with perthes disease and gaze palsy Congenital deformity of clavicle 1 1 NEK9 (4) 0.12500 1.00000 4.546e-4 9.697e-4 61 Arthrogryposis with perthes disease and gaze palsy Congenital deformity of elbow 1 1 NEK9 (4) 0.12500 1.00000 4.546e-4 9.697e-4 61 Arthrogryposis with perthes disease and gaze palsy Congenital deformity of forearm 1 1 NEK9 (4) 0.12500 1.00000 4.546e-4 9.697e-4 61 Arthrogryposis with perthes disease and gaze palsy Congenital deformity of scapula 1 1 NEK9 (4) 0.12500 1.00000 4.546e-4 9.697e-4 61 Arthrogryposis with perthes disease and gaze palsy Congenital deformity of wrist 1 1 NEK9 (4) 0.12500 1.00000 4.546e-4 9.697e-4 61 Astigmatism kbg syndrome 1 1 ANKRD11 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Astigmatism Christianson syndrome 1 1 SLC9A6 (5) 0.12500 1.00000 4.546e-4 9.697e-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 9.697e-4 282 Ateleiotic dwarfism Bonnevie-ullrich syndrome 1 1 GH1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 atransferrinemia Hereditary hemochromatosis 1 1 TF (2) 0.12500 1.00000 4.546e-4 9.697e-4 atransferrinemia Iron overload 1 1 TF (3) 0.12500 1.00000 4.546e-4 9.697e-4 Atrial myxoma Carney complex 1 1 PRKAR1A (8) 0.12500 1.00000 4.546e-4 9.697e-4 Atrophia bulborum heritaria Exudative retinopathy 1 1 NDP (2) 0.12500 1.00000 4.546e-4 9.697e-4 Atrophic retina Mandibulofacial dysostosis 1 0 ABCA4 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Autism-epilepsy syndrome Maple syrup urine disease 1 1 BCKDK (2) 0.12500 1.00000 4.546e-4 9.697e-4 autosomal dominant centronuclear myopathy Congenital deformity of clavicle 1 1 DNM2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 autosomal dominant centronuclear myopathy Congenital deformity of elbow 1 1 DNM2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 autosomal dominant centronuclear myopathy Congenital deformity of forearm 1 1 DNM2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 autosomal dominant centronuclear myopathy Congenital deformity of scapula 1 1 DNM2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 autosomal dominant polycystic kidney disease Liver cyst 1 1 PKD1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 autosomal dominant polycystic kidney disease IFT140-related recessive ciliopathy 1 0 IFT140 (1) 0.12500 1.00000 4.546e-4 9.697e-4 autosomal dominant polycystic kidney disease renal-hepatic-pancreatic dysplasia 2 1 0 NEK8 (1) 0.12500 1.00000 4.546e-4 9.697e-4 74 autosomal recessive osteopetrosis 2 Osteolysis 1 1 TNFSF11 (2) 0.12500 1.00000 4.546e-4 9.697e-4 259 autosomal recessive spinocerebellar ataxia 10 Central nervous system non-hodgkin lymphoma 1 1 ANO10 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Axonal hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy 1 1 MFN2 (5) 0.12500 1.00000 4.546e-4 9.697e-4 168 bamforth-lazarus syndrome Nonmedullary thyroid cancer 1 1 FOXE1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 17 BAP1-related tumor predisposition syndrome Testicular neoplasms 1 1 BAP1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 368 Behavior disorders Dysthymic disorder 1 0 SLC6A4 (1) 0.12500 1.00000 4.546e-4 9.697e-4 392 Benign congenital myopathy Leiomyosarcoma 1 1 DMD (2) 0.12500 1.00000 4.546e-4 9.697e-4 212 Benign mesial temporal lobe epilepsy Familial temporal lobe epilepsy 1 1 CPA6 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Benta disease Congenital cardiovascular anomaly 1 1 CARD11 (4) 0.12500 1.00000 4.546e-4 9.697e-4 335 Beta-propeller protein-associated neurodegeneration Hallervorden spatz syndrome 1 1 WDR45 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Beta-sarcoglycanopathy Mucolipidosis 1 1 SGCB (2) 0.12500 1.00000 4.546e-4 9.697e-4 121 Caveolinopathy Tubular aggregate myopathy 1 1 CAV3 (3) 0.12500 1.00000 4.546e-4 9.697e-4 349 Cerebellar ataxia with deafness and narcolepsy Cerebral atrophy 1 1 DNMT1 (5) 0.12500 1.00000 4.546e-4 9.697e-4 332 Cerebellar ataxia, deafness, and narcolepsy Cerebral atrophy 1 1 DNMT1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 332 Cerebellar cortical atrophy Hereditary elliptocytosis 1 0 MYO5A (1) 0.12500 1.00000 4.546e-4 9.697e-4 Cerebellar diseases Intellectual developmental disorder microcephaly cerebellar 1 1 CASK (3) 0.12500 1.00000 4.546e-4 9.697e-4 Cerebellar diseases Mowat-wilson syndrome 1 1 ZEB2 (7) 0.12500 1.00000 4.546e-4 9.697e-4 345 Cerebellar diseases joubert syndrome 3 1 1 AHI1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Cerebellar diseases Revesz debuse syndrome 1 1 TINF2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 345 Cerebellar diseases Revesz syndrome 1 1 TINF2 (6) 0.12500 1.00000 4.546e-4 9.697e-4 345 Cerebral atrophy Intellectual developmental disorder expressive speech dysmorphic 1 1 SETBP1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Cerebral atrophy Schinzel-Giedion syndrome 1 1 SETBP1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Cerebral atrophy hyperinsulinemic hypoglycemia with polycystic kidney disease 1 1 PMM2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Cervical dystonia Torsion dystonia 1 1 CIZ1 (2) 0.12500 1.00000 4.546e-4 9.697e-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 9.697e-4 168 Charcot-Marie-Tooth disease type 2A2 Hereditary motor and sensory neuropathy 1 1 MFN2 (5) 0.12500 1.00000 4.546e-4 9.697e-4 168 Chiari-frommel syndrome obsolete early infantile epileptic encephalopathy 1 1 GAD1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 118 Childhood apraxia of speech Russell-silver syndrome 1 1 FOXP2 (3) 0.12500 1.00000 4.546e-4 9.697e-4 323 Childhood ataxia with cns hypomyelination leukoencephalopathy with vanishing white matter 3 1 1 EIF2B3 (2) 0.12500 1.00000 4.546e-4 9.697e-4 174 Childhood ataxia with cns hypomyelination leukoencephalopathy with vanishing white matter 1 1 1 EIF2B1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 174 Benign hereditary chorea Choreoacanthocytosis 1 1 VPS13A (3) 0.12500 1.00000 4.546e-4 9.697e-4 1 Chromophobe renal cell carcinoma Diabetes mellitus ketosis prone 1 1 HNF1A (2) 0.12500 1.00000 4.546e-4 9.697e-4 ciliary dyskinesia, primary, 39 Epidermal nevus 1 1 LRRC56 (2) 0.12500 1.00000 4.546e-4 9.697e-4 17 Coasy protein-associated neurodegeneration Hallervorden spatz syndrome 1 1 COASY (2) 0.12500 1.00000 4.546e-4 9.697e-4 Coats disease Exudative retinopathy 1 1 NDP (2) 0.12500 1.00000 4.546e-4 9.697e-4 Cobalamin c disease Cobalamin metabolism disorder 1 0 MMADHC (1) 0.12500 1.00000 4.546e-4 9.697e-4 Cobalamin c disease inborn disorder of cobalamin metabolism and transport 1 1 MMADHC (2) 0.12500 1.00000 4.546e-4 9.697e-4 Cobalamin c disease methylmalonic acidemia with homocystinuria, type cblJ 1 1 ABCD4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 198 Coenzyme a synthase protein associated neurodegeneration Hallervorden spatz syndrome 1 0 COASY (1) 0.12500 1.00000 4.546e-4 9.697e-4 Binge eating disorder hypercholesterolemia, autosomal dominant, type B 1 1 APOB (2) 0.12500 1.00000 4.546e-4 9.697e-4 201 Bone marrow neoplasms Hepatic veno occlusive disease 1 1 CSF3 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Bone marrow neoplasms Leiomyosarcoma 1 0 CSF3 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Bonnevie-ullrich syndrome Esophageal stenosis 1 1 SOD2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Benign hereditary chorea Brain-lung-thyroid syndrome 1 1 NKX2-1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Brainstem atrophy Mucolipidosis 1 1 MCOLN1 (7) 0.12500 1.00000 4.546e-4 9.697e-4 Branched-chain keto acid dehydrogenase kinase deficiency Maple syrup urine disease 1 1 BCKDK (5) 0.12500 1.00000 4.546e-4 9.697e-4 Asymmetric crying face association Branchiootorenal syndrome 1 1 EYA1 (5) 0.12500 1.00000 4.546e-4 9.697e-4 134 Acro-dermo-ungual-lacrimal-tooth syndrome Breast disease 1 1 TP63 (3) 0.12500 1.00000 4.546e-4 9.697e-4 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Breast disease 1 1 TP63 (6) 0.12500 1.00000 4.546e-4 9.697e-4 30 Breast disease Limb-mammary syndrome 1 1 TP63 (5) 0.12500 1.00000 4.546e-4 9.697e-4 30 Brown oculocutaneous albinism Skin hair eye pigmentation variation 1 1 OCA2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Brunner syndrome Dysthymic disorder 1 1 MAOA (5) 0.12500 1.00000 4.546e-4 9.697e-4 C9 deficiency Terminal complement component deficiency 1 1 C9 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Carcinoid syndrome hereditary pheochromocytoma-paraganglioma 1 1 SDHD (2) 0.12500 1.00000 4.546e-4 9.697e-4 78 Cardiac-urogenital syndrome Dextrocardia 1 1 MYRF (6) 0.12500 1.00000 4.546e-4 9.697e-4 54 cardiomyopathy, dilated, 2l Distal muscular dystrophy 1 1 LDB3 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Carotid intima-media thickness Generalized lipodystrophy 1 0 PPARG (1) 0.12500 1.00000 4.546e-4 9.697e-4 79 Carotid intima-media thickness Follicular thyroid cancer 1 1 PPARG (2) 0.12500 1.00000 4.546e-4 9.697e-4 Castleman disease Prediabetes 1 1 IL6 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital muscular dystrophy due to dystroglycanopathy myopathy caused by variation in GMPPB 1 1 GMPPB (2) 0.12500 1.00000 4.546e-4 9.697e-4 40 Congenital muscular dystrophy due to dystroglycanopathy muscular dystrophy-dystroglycanopathy 1 1 LARGE1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 40 Congenital cardiovascular anomaly congenital myasthenic syndrome 10 1 1 DOK7 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital idiopathic intestinal pseudoobstruction Congenital omphalocele 1 1 FLNA (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital omphalocele Otopalatodigital spectrum disorder 1 1 FLNA (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital omphalocele Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital omphalocele X-linked ehlers-danlos syndrome 1 1 FLNA (3) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital septal defect of heart methylcobalamin deficiency type cblE 1 1 MTRR (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital septal defect of heart Interrupted aortic arch 1 0 NKX2-5 (1) 0.12500 1.00000 4.546e-4 9.697e-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 9.697e-4 166 Congenital septal defect of heart Right bundle branch block 1 0 BMPR2 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital sialidosis Mucolipidosis 1 1 NEU1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital venous anomaly Rupture, spontaneous 1 1 COL5A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Continuous spike and wave during sleep syndrome Familial temporal lobe epilepsy 1 1 GRIN2A (2) 0.12500 1.00000 4.546e-4 9.697e-4 Coproporphyria Porphyria cutanea tarda 1 1 CPOX (2) 0.12500 1.00000 4.546e-4 9.697e-4 craniofacial dysplasia - osteopenia syndrome Frontonasal dysplasia 1 1 IRX5 (5) 0.12500 1.00000 4.546e-4 9.697e-4 Creatine phosphokinase elevation Tubular aggregate myopathy 1 1 CAV3 (3) 0.12500 1.00000 4.546e-4 9.697e-4 349 Cryptophthalmia Cryptophthalmos syndrome 1 1 FREM2 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Cryptophthalmos syndrome Cryptotria 1 1 FREM2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital venous anomaly cutis laxa, autosomal dominant 1 1 1 ELN (2) 0.12500 1.00000 4.546e-4 9.697e-4 cutis laxa, autosomal dominant 1 Varicose veins 1 1 ELN (2) 0.12500 1.00000 4.546e-4 9.697e-4 Developmental delay with autism spectrum disorder Skin hair eye pigmentation variation 1 1 HERC2 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Diabetes mellitus ketosis prone Ventricular outflow obstruction 1 1 INS (2) 0.12500 1.00000 4.546e-4 9.697e-4 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Diabetes mellitus ketosis prone 1 1 CTLA4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 dilated cardiomyopathy 1C Distal muscular dystrophy 1 1 LDB3 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Disabling pansclerotic morphea of childhood Uveomeningoencephalitic syndrome 1 1 STAT4 (3) 0.12500 1.00000 4.546e-4 9.697e-4 1 Distal axonal motor neuropathy-myofibrillar myopathy syndrome Distal muscular dystrophy 1 1 HSPB8 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Distal muscular dystrophy Hereditary axonal motor and sensory neuropathy 1 0 BICD2 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Distal muscular dystrophy distal myopathy with vocal cord weakness 1 1 MATR3 (2) 0.12500 1.00000 4.546e-4 9.697e-4 distal myopathy with vocal cord weakness Vogt-koyanagi-harada disease 1 1 MATR3 (2) 0.12500 1.00000 4.546e-4 9.697e-4 1 46,xy sex reversal Dosage-sensitive sex reversal 1 1 NR0B1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 DPAGT1-congenital disorder of glycosylation Tubular aggregate myopathy 1 1 DPAGT1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 349 Cerebellar diseases dyskeratosis congenita, autosomal dominant 3 1 1 TINF2 (3) 0.12500 1.00000 4.546e-4 9.697e-4 345 Benign hereditary chorea Dyskinesia with orofacial involvement 1 1 ADCY5 (6) 0.12500 1.00000 4.546e-4 9.697e-4 Benign hereditary chorea Dyskinesia, familial, with facial myokymia 1 1 ADCY5 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Dysthymic disorder Early-onset obesity-hyperphagia-severe developmental delay syndrome 1 1 NTRK2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 392 Dacryocystitis Dysthymic disorder 1 0 IL1RN (1) 0.12500 1.00000 4.546e-4 9.697e-4 Dysthymic disorder Sclerosis 1 1 IL1RN (2) 0.12500 1.00000 4.546e-4 9.697e-4 Dystrophinopathy Leiomyosarcoma 1 1 DMD (2) 0.12500 1.00000 4.546e-4 9.697e-4 212 Early-onset epilepsy-intellectual disability-brain anomalies syndrome Wolf-hirschhorn syndrome 1 1 PIGG (2) 0.12500 1.00000 4.546e-4 9.697e-4 205 East syndrome Pendred syndrome 1 1 KCNJ10 (7) 0.12500 1.00000 4.546e-4 9.697e-4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Hypohidrotic ectodermal dysplasia 1 1 EDAR (4) 0.12500 1.00000 4.546e-4 9.697e-4 76 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Hypohidrotic ectodermal dysplasia 1 1 KDF1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 76 ectodermal dysplasia WNT10A related Hypohidrotic ectodermal dysplasia 1 1 WNT10A (3) 0.12500 1.00000 4.546e-4 9.697e-4 Emery dreifuss muscular dystrophy Emery-dreifuss muscular dystrophy 1 1 LMNA (5) 0.12500 1.00000 4.546e-4 9.697e-4 83 Emery-dreifuss muscular dystrophy Severe lipodystrophic laminopathy 1 1 LMNA (6) 0.12500 1.00000 4.546e-4 9.697e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Emery-dreifuss muscular dystrophy 1 1 LMNA (5) 0.12500 1.00000 4.546e-4 9.697e-4 83 Emery-dreifuss muscular dystrophy Lipoatrophic diabetes mellitus 1 1 LMNA (5) 0.12500 1.00000 4.546e-4 9.697e-4 83 Carney complex Enamel-renal syndrome 1 1 FAM20A (2) 0.12500 1.00000 4.546e-4 9.697e-4 combined immunodeficiency due to STIM1 deficiency Tubular aggregate myopathy 1 1 STIM1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 complex movement disorder with or without neurodevelopmental features Torsion dystonia 1 1 HPCA (3) 0.12500 1.00000 4.546e-4 9.697e-4 172 Congenital atransferrinemia Hereditary hemochromatosis 1 1 TF (4) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital atransferrinemia Iron overload 1 1 TF (3) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital cardiovascular anomaly immunodeficiency 11b with atopic dermatitis 1 1 CARD11 (2) 0.12500 1.00000 4.546e-4 9.697e-4 335 Congenital cardiovascular anomaly severe combined immunodeficiency due to CARD11 deficiency 1 1 CARD11 (2) 0.12500 1.00000 4.546e-4 9.697e-4 335 Congenital cardiovascular anomaly Fanconi anemia complementation group C 1 1 FANCC (2) 0.12500 1.00000 4.546e-4 9.697e-4 335 Congenital cleft hand Klippel-trenaunay syndrome 1 0 DLX5 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital factor xii deficiency Hereditary angioedema 1 1 F12 (6) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital glaucoma CYP1B1-related glaucoma with or without anterior segment dysgenesis 1 1 CYP1B1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Bockenheimer syndrome Congenital glaucoma 1 1 TEK (3) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital glaucoma Mucocutaneous venous malformations 1 1 TEK (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital glucokinase-related hyperinsulinism Prediabetes 1 1 GCK (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital high-molecular-weight kininogen deficiency Extravasation of diagnostic and therapeutic materials 1 1 KNG1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital high-molecular-weight kininogen deficiency Hereditary angioedema 1 1 KNG1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 16q24.3 microdeletion syndrome Astigmatism 1 1 ANKRD11 (2) 0.12500 1.00000 4.546e-4 9.697e-4 17-beta-hydroxysteroid dehydrogenase deficiency 46,xy disorder of sex developmen 1 1 HSD17B3 (5) 0.12500 1.00000 4.546e-4 9.697e-4 363 17,20-lyase deficiency 46,xy disorder of sex developmen 1 0 CYP17A1 (1) 0.12500 1.00000 4.546e-4 9.697e-4 22q11 deletion syndrome Cyclocephaly 1 1 FGF8 (2) 0.12500 1.00000 4.546e-4 9.697e-4 46,xy disorder of sex developmen Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 ABCA4-related retinopathy Mandibulofacial dysostosis 1 1 ABCA4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Absence epilepsy Benign paroxysmal torticollis of infancy 1 1 CACNA1A (3) 0.12500 1.00000 4.546e-4 9.697e-4 Absence epilepsy Conn syndrome 1 1 CACNA1H (2) 0.12500 1.00000 4.546e-4 9.697e-4 227 Absence epilepsy Juvenile absence epilepsy 1 1 EFHC1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 227 Acatalasia Bonnevie-ullrich syndrome 1 1 CAT (3) 0.12500 1.00000 4.546e-4 9.697e-4 294 Aceruloplasminemia Iron overload 1 1 CP (4) 0.12500 1.00000 4.546e-4 9.697e-4 188 Achromatopsia ATF6-related retinopathy 1 1 ATF6 (3) 0.12500 1.00000 4.546e-4 9.697e-4 295 Achromatopsia CNGA3-related retinopathy 1 1 CNGA3 (4) 0.12500 1.00000 4.546e-4 9.697e-4 295 Achromatopsia CNGB3-related retinopathy 1 1 CNGB3 (3) 0.12500 1.00000 4.546e-4 9.697e-4 295 Achromatopsia GNAT2-related retinopathy 1 1 GNAT2 (3) 0.12500 1.00000 4.546e-4 9.697e-4 295 Achromatopsia PDE6C-related retinopathy 1 1 PDE6C (2) 0.12500 1.00000 4.546e-4 9.697e-4 295 Acromesomelic dysplasia Trident hand 1 0 NPR2 (1) 0.12500 1.00000 4.546e-4 9.697e-4 28 Acromesomelic dysplasia Angel-shaped phalangoepiphyseal dysplasia 1 1 GDF5 (5) 0.12500 1.00000 4.546e-4 9.697e-4 Acromesomelic dysplasia Congenital pectus carinatum 1 1 FBN1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 28 Adrenal gland neoplasms pitt-hopkins syndrome 1 1 TCF4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 283 Albinism Skin hair eye pigmentation variation 1 1 TPCN2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 302 amyotrophic lateral sclerosis type 1 Bonnevie-ullrich syndrome 1 1 SOD1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 294 Anaphylaxis Congenital high-molecular-weight kininogen deficiency 1 1 KNG1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Anaphylaxis Hyperesthesia 1 0 KNG1 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Anaphylaxis Infantile neurological cutaneous and articular syndrome 1 1 NLRP3 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Anaphylaxis Cinca syndrome 1 1 NLRP3 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Angiofollicular ganglionic hyperplasia Prediabetes 1 0 IL6 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Angiolymphoid hyperplasia Prediabetes 1 0 IL6 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Anterior compartment syndrome Intracranial vasospasm 1 1 HMOX1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 194 immunodeficiency 121 with autoinflammation Proteasome associated autoinflammatory syndrome 1 1 PSMB10 (5) 0.12500 1.00000 4.546e-4 9.697e-4 Central nervous system non-hodgkin lymphoma immunodeficiency 60 1 1 BACH2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 1 Diabetes mellitus ketosis prone immunodeficiency due to CD25 deficiency 1 1 IL2RA (2) 0.12500 1.00000 4.546e-4 9.697e-4 Hyper-igm immunodeficiency syndrome immunodeficiency, common variable, 2 1 1 TNFRSF13B (2) 0.12500 1.00000 4.546e-4 9.697e-4 12 Epilepsy with myoclonic atonic seizures Intellectual developmental disorder seizures epilepsy 1 1 AP2M1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 99 Diabetes mellitus ketosis prone Interleukin 2 receptor deficiency 1 1 IL2RA (2) 0.12500 1.00000 4.546e-4 9.697e-4 hereditary pheochromocytoma-paraganglioma Intestinal cancer 1 0 SDHD (1) 0.12500 1.00000 4.546e-4 9.697e-4 78 Cardiac tamponade Intracranial vasospasm 1 1 PLAT (2) 0.12500 1.00000 4.546e-4 9.697e-4 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Russell-silver syndrome 1 1 CDKN1C (3) 0.12500 1.00000 4.546e-4 9.697e-4 Iodide peroxidase deficiency Thyroid dyshormonogenesis 1 1 TPO (6) 0.12500 1.00000 4.546e-4 9.697e-4 102 Bonnevie-ullrich syndrome Isolated somatotropin deficiency 1 1 GH1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Hereditary hemorrhagic telangiectasia juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 1 SMAD4 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Proteasome associated autoinflammatory syndrome 1 1 POMP (6) 0.12500 1.00000 4.546e-4 9.697e-4 keutel syndrome Varicose veins 1 1 MGP (3) 0.12500 1.00000 4.546e-4 9.697e-4 Kleine-levin syndrome NAA10-related syndrome 1 1 NAA10 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital omphalocele LAMA5-related multisystemic syndrome 1 1 LAMA5 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Testicular neoplasms xeroderma pigmentosum group F 1 1 ERCC4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 46,xy sex reversal Testicular regression syndrome 1 1 DHX37 (2) 0.12500 1.00000 4.546e-4 9.697e-4 149 Pemphigus vulgaris Thiopurine immunosuppressant-induced pancreatitis 1 0 HLA-DQB3 (1) 0.12500 1.00000 4.546e-4 9.697e-4 1 Interrupted aortic arch Thyroid agenesis 1 0 NKX2-5 (1) 0.12500 1.00000 4.546e-4 9.697e-4 tooth agenesis, selective, 1 Wolf-hirschhorn syndrome 1 1 MSX1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 205 Tooth and nail syndrome Wolf-hirschhorn syndrome 1 1 MSX1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 205 Torsion dystonia Whispering dysphonia 1 1 TUBB4A (4) 0.12500 1.00000 4.546e-4 9.697e-4 Astigmatism Trichiasis 1 0 MCM7 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Carney complex Trismus-pseudocamptodactyly syndrome 1 1 MYH8 (6) 0.12500 1.00000 4.546e-4 9.697e-4 Torsion dystonia TUBB4A-related neurologic disorder 1 1 TUBB4A (3) 0.12500 1.00000 4.546e-4 9.697e-4 Branchiootorenal syndrome Usher syndrome type 3 1 1 CLRN1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 134 Peptic esophagitis Vitamin d dependent rickets 1 1 VDR (5) 0.12500 1.00000 4.546e-4 9.697e-4 342 Klippel-trenaunay syndrome Waardenburg anophthalmia syndrome 1 0 SMOC1 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Witkop syndrome Wolf-hirschhorn syndrome 1 1 MSX1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 205 46,xy sex reversal X-linked adrenal hypoplasia congenita 1 1 NR0B1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Thyroid agenesis X-linked central congenital hypothyroidism with late-onset testicular enlargement 1 1 IGSF1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 102 Hallervorden spatz syndrome X-linked cerebral cerebellar coloboma syndrome 1 0 WDR45 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Hyper-igm immunodeficiency syndrome X-linked hyper-igm syndrome 1 1 CD40LG (6) 0.12500 1.00000 4.546e-4 9.697e-4 Hallervorden spatz syndrome X-linked optic atrophy 1 0 WDR45 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Renal hypertension Sebastian syndrome 1 1 MYH9 (2) 0.12500 1.00000 4.546e-4 9.697e-4 407 Collagenopathy Rhegmatogenous retinal detachment 1 1 COL2A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 15 Coxa plana Rhegmatogenous retinal detachment 1 0 COL2A1 (1) 0.12500 1.00000 4.546e-4 9.697e-4 15 Czech dysplasia Rhegmatogenous retinal detachment 1 1 COL2A1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 15 Dysspondyloenchondromatosis Rhegmatogenous retinal detachment 1 1 COL2A1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 15 kniest dysplasia Rhegmatogenous retinal detachment 1 1 COL2A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 15 Exudative retinopathy RHO-related retinopathy 1 1 RHO (2) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital septal defect of heart Right cardiac ventricular dilatation 1 0 BMPR2 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Rufous oculocutaneous albinism Skin hair eye pigmentation variation 1 1 TYRP1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 302 Russell-silver syndrome silver-russell syndrome 5 1 1 HMGA2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Sensory peripheral neuropathy Wilson disease 1 1 ATP7B (5) 0.12500 1.00000 4.546e-4 9.697e-4 Severe neonatal spondylometaphyseal dysplasia Shwachman-diamond syndrome 1 1 SBDS (7) 0.12500 1.00000 4.546e-4 9.697e-4 Mucolipidosis Sialidosis 1 1 NEU1 (5) 0.12500 1.00000 4.546e-4 9.697e-4 Russell-silver syndrome silver-russell syndrome 3 1 1 IGF2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Generalized lipodystrophy spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 1 1 PCYT1A (2) 0.12500 1.00000 4.546e-4 9.697e-4 79 Cerebellar diseases Pancreatic beta-cell agenesis with neonatal diabetes mellitus 1 1 PTF1A (2) 0.12500 1.00000 4.546e-4 9.697e-4 Paroxysmal tachycardia primary ciliary dyskinesia 5 1 1 HYDIN (2) 0.12500 1.00000 4.546e-4 9.697e-4 140 dilated cardiomyopathy 1E Paroxysmal tachycardia 1 1 SCN5A (2) 0.12500 1.00000 4.546e-4 9.697e-4 140 Paroxysmal tachycardia SCN5A-related cardiac rhythm disorder 1 1 SCN5A (2) 0.12500 1.00000 4.546e-4 9.697e-4 140 Pendred syndrome Sensorineural hearing loss thrombocytopenia syndrome 1 1 DIAPH1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 157 Pendred syndrome progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 1 DIAPH1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 157 Bonnevie-ullrich syndrome Peptic esophagitis 1 0 VDR (1) 0.12500 1.00000 4.546e-4 9.697e-4 Periventricular heterotopia with microcephaly, autosomal recessive Periventricular heterotopia, x-linked 1 1 ARFGEF2 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Periventricular heterotopia, x-linked Periventricular laminar heterotopia 1 0 ARFGEF2 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital idiopathic intestinal pseudoobstruction Periventricular heterotopia, x-linked 1 1 FLNA (2) 0.12500 1.00000 4.546e-4 9.697e-4 Otopalatodigital spectrum disorder Periventricular heterotopia, x-linked 1 1 FLNA (2) 0.12500 1.00000 4.546e-4 9.697e-4 Periventricular heterotopia, x-linked periventricular nodular heterotopia 7 1 1 NEDD4L (2) 0.12500 1.00000 4.546e-4 9.697e-4 Cerebral atrophy PMM2-congenital disorder of glycosylation 1 1 PMM2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 hereditary pheochromocytoma-paraganglioma Polydactyly-macrocephaly syndrome 1 1 MAX (5) 0.12500 1.00000 4.546e-4 9.697e-4 78 Hyper-igd syndrome Porokeratosis 1 1 MVK (6) 0.12500 1.00000 4.546e-4 9.697e-4 Keratitis ichthyosis hearing loss syndrome Porokeratosis 1 1 GJB2 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Bart-pumphrey syndrome Porokeratosis 1 1 GJB2 (3) 0.12500 1.00000 4.546e-4 9.697e-4 hemochromatosis type 1 Porphyria cutanea tarda 1 1 HFE (3) 0.12500 1.00000 4.546e-4 9.697e-4 251 Congenital venous anomaly EPHB4-associated vascular malformation spectrum 1 1 EPHB4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Epidermodysplasia verruciformis severe combined immunodeficiency due to CORO1A deficiency 1 1 CORO1A (2) 0.12500 1.00000 4.546e-4 9.697e-4 Epilepsy with myoclonic atonic seizures familial hemiplegic migraine 1 1 SCN1A (2) 0.12500 1.00000 4.546e-4 9.697e-4 Chromosome 17q23.1-q23.2 deletion syndrome Epilepsy with myoclonic atonic seizures 1 1 SLC2A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 99 Epilepsy with myoclonic atonic seizures Glucose transporter type 1 deficiency syndrome 1 0 SLC2A1 (1) 0.12500 1.00000 4.546e-4 9.697e-4 99 Epilepsy with myoclonic absence Epilepsy with myoclonic atonic seizures 1 1 SLC2A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 99 Epilepsy with myoclonic atonic seizures GLUT1 deficiency syndrome 1 1 SLC2A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 99 Extravasation of diagnostic and therapeutic materials Hyperesthesia 1 0 KNG1 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Dacryocystitis Extravasation of diagnostic and therapeutic materials 1 1 IL1RN (2) 0.12500 1.00000 4.546e-4 9.697e-4 Exudative retinopathy FZD4-related exudative vitreoretinopathy 1 1 FZD4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 189 Exudative retinopathy RCBTB1-related retinopathy 1 1 RCBTB1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 189 Astigmatism EYS-related retinopathy 1 1 EYS (2) 0.12500 1.00000 4.546e-4 9.697e-4 Factor xii deficiency Hereditary angioedema 1 1 F12 (7) 0.12500 1.00000 4.546e-4 9.697e-4 Fahr's disease Myeloproliferative disease, unclassifiable 1 1 PDGFRB (3) 0.12500 1.00000 4.546e-4 9.697e-4 Familial temporal lobe epilepsy Sacroiliac arthritis 1 1 RELN (4) 0.12500 1.00000 4.546e-4 9.697e-4 209 Familial temporal lobe epilepsy Sacroiliac joint synovitis 1 1 RELN (4) 0.12500 1.00000 4.546e-4 9.697e-4 209 FAS-related autoimmune lymphoproliferative immune disorder Uveomeningoencephalitic syndrome 1 1 FAS (2) 0.12500 1.00000 4.546e-4 9.697e-4 FAS-related autoimmune lymphoproliferative immune disorder Vogt-koyanagi-harada disease 1 1 FAS (2) 0.12500 1.00000 4.546e-4 9.697e-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 9.697e-4 Follicular thyroid cancer Neurofibrosarcoma 1 0 NRAS (1) 0.12500 1.00000 4.546e-4 9.697e-4 17 Cryptophthalmos syndrome fraser syndrome 3 1 1 GRIP1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 90 Frontonasal dysplasia Frontonasal dysplasia with alopecia and genital anomaly 1 1 ALX4 (7) 0.12500 1.00000 4.546e-4 9.697e-4 Frontonasal dysplasia Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 1 1 ALX1 (7) 0.12500 1.00000 4.546e-4 9.697e-4 Frontonasal dysplasia frontorhiny 1 1 ALX3 (4) 0.12500 1.00000 4.546e-4 9.697e-4 Gallbladder disease progressive familial intrahepatic cholestasis type 3 1 1 ABCB4 (4) 0.12500 1.00000 4.546e-4 9.697e-4 generalized epilepsy-paroxysmal dyskinesia syndrome Gingival diseases 1 1 KCNMA1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Genetic syndromic pierre robin syndrome Mandibulofacial dysostosis 1 1 EFTUD2 (7) 0.12500 1.00000 4.546e-4 9.697e-4 Genetic transient congenital hypothyroidism Thyroid dyshormonogenesis 1 1 DUOX2 (6) 0.12500 1.00000 4.546e-4 9.697e-4 102 Gingival diseases Hyaline fibromatosis 1 1 ANTXR2 (5) 0.12500 1.00000 4.546e-4 9.697e-4 334 Gingival diseases Gingivitis 1 1 TNFRSF8 (2) 0.12500 1.00000 4.546e-4 9.697e-4 334 GNPTAB-mucolipidosis Mucolipidosis 1 1 GNPTAB (7) 0.12500 1.00000 4.546e-4 9.697e-4 GNPTG-mucolipidosis Mucolipidosis 1 1 GNPTG (5) 0.12500 1.00000 4.546e-4 9.697e-4 121 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 9.697e-4 Hereditary hemorrhagic telangiectasia Myhre syndrome 1 1 SMAD4 (5) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital muscular dystrophy due to dystroglycanopathy myopathy caused by variation in CRPPA 1 1 CRPPA (2) 0.12500 1.00000 4.546e-4 9.697e-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 9.697e-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 9.697e-4 40 Nausea Refractory anemia 1 1 TNF (2) 0.12500 1.00000 4.546e-4 9.697e-4 Eye pain Nausea 1 0 POMC (1) 0.12500 1.00000 4.546e-4 9.697e-4 101 Hallervorden spatz syndrome neurodegeneration with brain iron accumulation 4 1 1 C19orf12 (2) 0.12500 1.00000 4.546e-4 9.697e-4 107 Iron overload neurodegeneration with brain iron accumulation 9 1 1 FTH1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Epidermal nevus Neurofibrosarcoma 1 1 NRAS (3) 0.12500 1.00000 4.546e-4 9.697e-4 17 Neurofibrosarcoma Nonmedullary thyroid cancer 1 1 NRAS (3) 0.12500 1.00000 4.546e-4 9.697e-4 17 Distal muscular dystrophy neuronopathy, distal hereditary motor, autosomal dominant 1 1 HSPB8 (2) 0.12500 1.00000 4.546e-4 9.697e-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 9.697e-4 non-syndromic X-linked intellectual disability Say meyer syndrome 1 1 HUWE1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 117 Exudative retinopathy norrie disease 1 1 NDP (2) 0.12500 1.00000 4.546e-4 9.697e-4 46,xy sex reversal NR5A1-related sex development disorder 1 1 NR5A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Focal cortical dysplasia NTHL1-deficiency tumor predisposition syndrome 1 1 NTHL1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 48 oculocutaneous albinism type 2 Skin hair eye pigmentation variation 1 1 OCA2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Osteolysis Refractory anemia 1 1 TNF (2) 0.12500 1.00000 4.546e-4 9.697e-4 Leiomyosarcoma PTEN hamartoma tumor syndrome 1 1 PTEN (2) 0.12500 1.00000 4.546e-4 9.697e-4 Leiomyosarcoma progressive muscular dystrophy 1 1 DMD (2) 0.12500 1.00000 4.546e-4 9.697e-4 212 Carcinoma in situ Leiomyosarcoma 1 0 PTGS2 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Congenital deformity of clavicle lethal congenital contracture syndrome 11 1 1 GLDN (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 Congenital deformity of elbow lethal congenital contracture syndrome 11 1 1 GLDN (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 Congenital deformity of forearm lethal congenital contracture syndrome 11 1 1 GLDN (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 Congenital deformity of scapula lethal congenital contracture syndrome 11 1 1 GLDN (2) 0.12500 1.00000 4.546e-4 9.697e-4 61 Childhood ataxia with cns hypomyelination leukoencephalopathy with vanishing white matter 2 1 1 EIF2B2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 174 Childhood ataxia with cns hypomyelination leukoencephalopathy with vanishing white matter 4 1 1 EIF2B4 (2) 0.12500 1.00000 4.546e-4 9.697e-4 174 Childhood ataxia with cns hypomyelination leukoencephalopathy with vanishing white matter 5 1 1 EIF2B5 (2) 0.12500 1.00000 4.546e-4 9.697e-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 9.697e-4 407 Mandibulofacial dysostosis POLR1C-related disorder 1 1 POLR1C (3) 0.12500 1.00000 4.546e-4 9.697e-4 Maple syrup urine disease pyruvate dehydrogenase E3 deficiency 1 1 DLD (2) 0.12500 1.00000 4.546e-4 9.697e-4 Bilateral multicystic dysplastic kidney Mayer-rokitansky-kuster-hauser syndrome 1 1 HNF1B (2) 0.12500 1.00000 4.546e-4 9.697e-4 145 Mayer-rokitansky-kuster-hauser syndrome Renal dysplasia 1 1 HNF1B (2) 0.12500 1.00000 4.546e-4 9.697e-4 145 Giant cell tumor of tendon sheath Mayer-rokitansky-kuster-hauser syndrome 1 1 HNF1B (3) 0.12500 1.00000 4.546e-4 9.697e-4 145 Mayer-rokitansky-kuster-hauser syndrome Multicystic dysplastic kidney 1 1 HNF1B (3) 0.12500 1.00000 4.546e-4 9.697e-4 145 Cobalamin c disease methylmalonic aciduria and homocystinuria type cblF 1 1 LMBRD1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Megacystis microcolon intestinal hypoperistalsis syndrome microcephaly with lissencephaly and/or hydranencephaly 1 1 NDE1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Megacystis microcolon intestinal hypoperistalsis syndrome Microhydranencephaly 1 1 NDE1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Mucoepidermoid carcinoma Testicular neoplasms 1 0 BAP1 (1) 0.12500 1.00000 4.546e-4 9.697e-4 368 Ataxia-hypogonadism-choroidal dystrophy syndrome Mucolipidosis 1 1 PNPLA6 (3) 0.12500 1.00000 4.546e-4 9.697e-4 121 Boucher-neuhauser syndrome Mucolipidosis 1 1 PNPLA6 (2) 0.12500 1.00000 4.546e-4 9.697e-4 121 Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Mucolipidosis 1 1 PNPLA6 (2) 0.12500 1.00000 4.546e-4 9.697e-4 121 Mucolipidosis Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 1 PNPLA6 (3) 0.12500 1.00000 4.546e-4 9.697e-4 121 Mucolipidosis retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (2) 0.12500 1.00000 4.546e-4 9.697e-4 121 Hallervorden spatz syndrome Palmoplantar keratoderma with congenital alopecia 1 1 GJA1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 107 Hallervorden spatz syndrome PLA2G6-associated neurodegeneration 1 1 PLA2G6 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Hallervorden spatz syndrome Pantothenate kinase-associated neurodegeneration 1 1 PANK2 (4) 0.12500 1.00000 4.546e-4 9.697e-4 107 hearing loss, autosomal recessive 116 Pendred syndrome 1 1 CLDN9 (2) 0.12500 1.00000 4.546e-4 9.697e-4 157 Carney complex Hecht syndrome 1 1 MYH8 (5) 0.12500 1.00000 4.546e-4 9.697e-4 Heme oxygenase deficiency Intracranial vasospasm 1 1 HMOX1 (7) 0.12500 1.00000 4.546e-4 9.697e-4 194 Hemihyperplasia Russell-silver syndrome 1 0 IGF2 (1) 0.12500 1.00000 4.546e-4 9.697e-4 Hemimegalencephaly PTEN hamartoma tumor syndrome 1 1 PTEN (2) 0.12500 1.00000 4.546e-4 9.697e-4 Clapo syndrome Hemimegalencephaly 1 1 PIK3CA (3) 0.12500 1.00000 4.546e-4 9.697e-4 hemochromatosis type 1 Hepatic veno occlusive disease 1 1 HFE (2) 0.12500 1.00000 4.546e-4 9.697e-4 251 hemochromatosis type 2B Hereditary hemochromatosis 1 1 HAMP (2) 0.12500 1.00000 4.546e-4 9.697e-4 148 hemochromatosis type 2B Iron overload 1 1 HAMP (3) 0.12500 1.00000 4.546e-4 9.697e-4 hemochromatosis type 3 Hereditary hemochromatosis 1 1 TFR2 (2) 0.12500 1.00000 4.546e-4 9.697e-4 148 hemochromatosis type 4 Hereditary hemochromatosis 1 1 SLC40A1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 hemochromatosis type 4 Iron overload 1 1 SLC40A1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 188 hemochromatosis type 5 Iron overload 1 1 FTH1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Hemosiderosis Iron overload 1 1 CP (2) 0.12500 1.00000 4.546e-4 9.697e-4 188 Hepatic veno occlusive disease Microvascular angina 1 1 MTHFR (2) 0.12500 1.00000 4.546e-4 9.697e-4 Hepatoerythropoietic porphyria Porphyria cutanea tarda 1 1 UROD (5) 0.12500 1.00000 4.546e-4 9.697e-4 Hereditary angioedema Hyperesthesia 1 1 KNG1 (3) 0.12500 1.00000 4.546e-4 9.697e-4 Hereditary angioedema Hereditary c1 esterase inhibitor deficiency 1 1 SERPING1 (6) 0.12500 1.00000 4.546e-4 9.697e-4 Hereditary coproporphyria Porphyria cutanea tarda 1 1 CPOX (5) 0.12500 1.00000 4.546e-4 9.697e-4 Hereditary elliptocytosis Neonatal anemia 1 1 SPTB (4) 0.12500 1.00000 4.546e-4 9.697e-4 271 Hereditary elliptocytosis Perinatal hemolytic anemia 1 1 SPTB (4) 0.12500 1.00000 4.546e-4 9.697e-4 271 hereditary leiomyomatosis and renal cell cancer Leiomyosarcoma 1 1 FH (2) 0.12500 1.00000 4.546e-4 9.697e-4 212 Hereditary motor and sensory neuropathy multiple symmetric lipomatosis with partial lipodystrophy 1 1 MFN2 (5) 0.12500 1.00000 4.546e-4 9.697e-4 168 hereditary von Willebrand disease Periventricular heterotopia, x-linked 1 1 VWF (2) 0.12500 1.00000 4.546e-4 9.697e-4 hermansky-pudlak syndrome 7 Sensory peripheral neuropathy 1 1 DTNBP1 (2) 0.12500 1.00000 4.546e-4 9.697e-4 Hyaline fibromatosis Osteolysis 1 1 ANTXR2 (4) 0.12500 1.00000 4.546e-4 9.697e-4 hypercholesterolemia, autosomal dominant, 3 Hypoalphalipoproteinemia 1 1 PCSK9 (2) 0.12500 1.00000 4.546e-4 9.697e-4 hyperinsulinism due to glucokinase deficiency Prediabetes 1 1 GCK (2) 0.12500 1.00000 4.546e-4 9.697e-4 Chiari-frommel syndrome Hyperprolactinemia 1 1 PRLR (4) 0.12500 1.00000 4.546e-4 9.697e-4 118 Hypervalinemia Maple syrup urine disease 1 1 BCAT2 (6) 0.12500 1.00000 4.546e-4 9.697e-4 Aapoai amyloidosis Hypoalphalipoproteinemia 1 1 APOA1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 293 Apolipoprotein a-i amyloidosis Hypoalphalipoproteinemia 1 1 APOA1 (4) 0.12500 1.00000 4.546e-4 9.697e-4 293 Hypohidrotic ectodermal dysplasia Schopf-schulz-passarge syndrome 1 1 WNT10A (4) 0.12500 1.00000 4.546e-4 9.697e-4 Coronary aneurysm Eating disorder 3 0 CAMK1D (1), CSMD1 (1), MACROD2 (1) 0.02941 0.09375 4.411e-4 9.697e-4 Atypical femoral fracture Vertebral column disorder 2 0 CSMD1 (1), CHST3 (1) 0.04082 0.15385 4.310e-4 9.544e-4 Hereditary parkinson disease Substance-induced psychosis 2 2 GSTP1 (2), SNCA (3) 0.04545 0.11765 4.264e-4 9.444e-4 Chondromalacia Myositis 2 0 SLC6A15 (1), DLGAP1 (1) 0.02941 0.25000 4.257e-4 9.428e-4 Bell's palsy Essential tremor 4 0 CDC5L (1), SUPT3H (1), SFTA2 (1), TTC23 (1) 0.02667 0.07143 4.229e-4 9.368e-4 Cervical polyp Nonalcoholic fatty liver disease 2 0 IRAK1BP1 (1), MEI4 (1) 0.00631 1.00000 4.199e-4 9.302e-4 Malunion fracture Smooth surface dental caries 2 0 PSD3 (1), SH2D4A (1) 0.04167 0.15385 4.079e-4 9.037e-4 Aortic valve disease Major salivary gland carcinoma 2 0 MYMK (1), SLC2A6 (1) 0.02326 0.33333 4.044e-4 8.961e-4 Moyamoya angiopathy Moyamoya disease 3 3 NF1 (2), RNF213 (6), BRCC3 (3) 0.03125 0.08333 4.037e-4 8.947e-4 71 Hypospadias Prostatic intraepithelial neoplasia 2 2 ESR2 (2), AR (4) 0.03846 0.18182 3.933e-4 8.717e-4 Intellectual developmental disorder autism speech Intellectual developmental disorder speech autism dysmorphic 1 1 TBR1 (3) 0.20000 0.50000 3.896e-4 8.637e-4 220 Hemoglobin barts fetalis syndrome Intellectual developmental disorder hypotonic x-linked 1 1 ATRX (4) 0.20000 0.50000 3.896e-4 8.637e-4 Digenic alport syndrome Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1 1 COL4A3 (2) 0.20000 0.50000 3.896e-4 8.637e-4 91 Hyperoxia Intermittent hydrarthrosis 1 1 TNFRSF1A (2) 0.20000 0.50000 3.896e-4 8.637e-4 Intestinal perforation Renovascular hypertension 1 1 NOS3 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Arteriovenous malformations Intracranial arteriovenous malformation 1 1 KRAS (3) 0.20000 0.50000 3.896e-4 8.637e-4 Encephalocraniocutaneous lipomatosis Intracranial arteriovenous malformation 1 1 KRAS (3) 0.20000 0.50000 3.896e-4 8.637e-4 Ataxia with vitamin e deficiency Isolated systolic hypertension 1 1 APOB (2) 0.20000 0.50000 3.896e-4 8.637e-4 Intracranial arteriovenous malformation juvenile polyposis syndrome 1 1 ENG (2) 0.20000 0.50000 3.896e-4 8.637e-4 Activated pi3k-delta syndrome Lipomatosis 1 1 PTEN (2) 0.20000 0.50000 3.896e-4 8.637e-4 Lipomatosis Retinal vasculopathy with cerebral leukodystrophy 1 1 PTEN (2) 0.20000 0.50000 3.896e-4 8.637e-4 lissencephaly spectrum disorders Lissencephaly, x-linked 1 1 DCX (3) 0.20000 0.50000 3.896e-4 8.637e-4 Arachnoid cysts Lissencephaly, x-linked 1 1 ARX (3) 0.20000 0.50000 3.896e-4 8.637e-4 255 Acrocallosal syndrome Male infertility testicular dysgenesis 1 1 KIF7 (2) 0.20000 0.50000 3.896e-4 8.637e-4 192 Juvenile hyperuricemic nephropathy Malignant hypertension 1 1 REN (5) 0.20000 0.50000 3.896e-4 8.637e-4 70 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Malignant peripheral nerve sheath tumor 1 1 HTRA1 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Malignant triton tumor 1 1 HTRA1 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Microscopic colitis Selective immunoglobulin a deficiency 1 1 CLEC16A (2) 0.20000 0.50000 3.896e-4 8.637e-4 369 Annular epidermolytic ichthyosis Epidermolytic palmoplantar keratoderma 1 1 KRT1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 187 Epidermolytic ichthyosis Epidermolytic palmoplantar keratoderma 1 1 KRT1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 187 Congenital reticular ichthyosiform erythroderma Epidermolytic palmoplantar keratoderma 1 1 KRT1 (3) 0.20000 0.50000 3.896e-4 8.637e-4 187 Familial mediterranean fever Orthostatic hypotension 1 1 ABCB1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 120 Follicular cyst Hyperalphalipoproteinemia 1 1 SCARB1 (3) 0.20000 0.50000 3.896e-4 8.637e-4 Crst syndrome Geleophysic dysplasia 1 1 FBN1 (5) 0.20000 0.50000 3.896e-4 8.637e-4 28 Glanzmann thrombasthenia Hyper-immunoglobulin e syndrome 1 1 ITGB3 (8) 0.20000 0.50000 3.896e-4 8.637e-4 Corneal opacity Gm1 gangliosidosis 1 1 GLB1 (7) 0.20000 0.50000 3.896e-4 8.637e-4 Craniometaphyseal dysplasia Hallermanns syndrome 1 1 GJA1 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Haploinsufficiency Mycosis fungoides 1 1 CTLA4 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Haploinsufficiency Torsades de pointes 1 1 KCNH2 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Aphasia Hematoma 1 1 PLAT (2) 0.20000 0.50000 3.896e-4 8.637e-4 29 Hemiparkinsonism Parkinsonian-pyramidal syndrome 1 1 SNCA (3) 0.20000 0.50000 3.896e-4 8.637e-4 395 Hemiparkinsonism Thyroid hemiagenesis 1 0 VPS13C (1) 0.20000 0.50000 3.896e-4 8.637e-4 395 Hemolytic disease of fetus and newborn Rh deficiency syndrome 1 1 RHD (4) 0.20000 0.50000 3.896e-4 8.637e-4 306 Hemorrhagic stroke Hepatic fibrosis 1 1 PDGFA (2) 0.20000 0.50000 3.896e-4 8.637e-4 Hennekam syndrome Van maldergem syndrome 1 1 FAT4 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Cryohydrocytosis Hereditary xerocytosis 1 1 SLC4A1 (5) 0.20000 0.50000 3.896e-4 8.637e-4 Horizontal gaze palsy with progressive scoliosis Partial agenesis of corpus callosum 1 0 DCC (1) 0.20000 0.50000 3.896e-4 8.637e-4 Acrocallosal syndrome Hydrolethalus syndrome 1 1 KIF7 (6) 0.20000 0.50000 3.896e-4 8.637e-4 192 Hyperkalemia Malignant hypertension 1 1 CYP17A1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Hypobetalipoproteinemia Isolated systolic hypertension 1 1 APOB (4) 0.20000 0.50000 3.896e-4 8.637e-4 201 Congenital hemangioma Hypocalciuric hypercalcemia 1 1 GNA11 (6) 0.20000 0.50000 3.896e-4 8.637e-4 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 8.637e-4 Benign mucous membrane pemphigoid with ocular involvement Thromboangiitis obliterans 1 0 HLA-DRB1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Hyperthyroxinemia Thyroid hormone metabolism disorder 1 1 DIO1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 185 Benign mucous membrane pemphigoid with ocular involvement Tongue cancer 1 1 HLA-DQB1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 1 Malignant hypertension Tonne-kalscheuer syndrome 1 1 REN (2) 0.20000 0.50000 3.896e-4 8.637e-4 70 Autoimmune pancreatitis Tonsil cancer 1 1 HLA-DQB1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 1 Tongue cancer Tonsil cancer 1 0 HLA-DQB1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 1 Intracranial arteriovenous malformation Toriello-carey syndrome 1 1 KRAS (3) 0.20000 0.50000 3.896e-4 8.637e-4 Cardiac rhythm disease Torsades de pointes 1 1 SCN5A (4) 0.20000 0.50000 3.896e-4 8.637e-4 140 Vaginal neoplasms Vipoma 1 0 IFNA1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Factor v deficiency Venous hypertension 1 1 F5 (5) 0.20000 0.50000 3.896e-4 8.637e-4 84 Ameloblastoma Ventricular hypertrophy 1 1 BRAF (2) 0.20000 0.50000 3.896e-4 8.637e-4 Anaplastic astrocytoma Ventricular hypertrophy 1 1 BRAF (2) 0.20000 0.50000 3.896e-4 8.637e-4 Brachyolmia Verloes-bourguignon syndrome 1 1 LTBP3 (5) 0.20000 0.50000 3.896e-4 8.637e-4 Geleophysic dysplasia Verloes-bourguignon syndrome 1 1 LTBP3 (6) 0.20000 0.50000 3.896e-4 8.637e-4 28 Keratitis-ichthyosis-deafness syndrome Vohwinkel syndrome 1 1 GJB2 (3) 0.20000 0.50000 3.896e-4 8.637e-4 68 Hemophilia b Warfarin sensitivity 1 1 F9 (8) 0.20000 0.50000 3.896e-4 8.637e-4 12q14 microdeletion syndrome Well-differentiated liposarcoma 1 1 HMGA2 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Craniopharyngioma Weyers acrofacial dysostosis 1 1 CTNNB1 (3) 0.20000 0.50000 3.896e-4 8.637e-4 Digenic alport syndrome X-linked diffuse leiomyomatosis with alport syndrome 1 1 COL4A5 (2) 0.20000 0.50000 3.896e-4 8.637e-4 91 Cryohydrocytosis Xerocytosis 1 1 SLC4A1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 Panuveitis Thrombotic microangiopathy 1 0 CFH (1) 0.20000 0.50000 3.896e-4 8.637e-4 32 Atypical hemolytic uremic syndrome Panuveitis 1 1 CFH (2) 0.20000 0.50000 3.896e-4 8.637e-4 32 11p11.2 deletion syndrome Parietal foramina 1 1 ALX4 (6) 0.20000 0.50000 3.896e-4 8.637e-4 108 Parietal foramina Potocki-shaffer syndrome 1 1 ALX4 (7) 0.20000 0.50000 3.896e-4 8.637e-4 108 Arteriovenous malformations Parkes weber syndrome 1 1 RASA1 (5) 0.20000 0.50000 3.896e-4 8.637e-4 65 Partial agenesis of corpus callosum Triphalangeal thumb-polysyndactyly syndrome 1 1 SHH (2) 0.20000 0.50000 3.896e-4 8.637e-4 230 Common arterial trunk with aortic dominance Partial pancreatic agenesis 1 1 GATA6 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Pilosebaceous disorder White sutton syndrome 1 1 GLI3 (2) 0.20000 0.50000 3.896e-4 8.637e-4 192 Pituitary gigantism Vipoma 1 1 MEN1 (3) 0.20000 0.50000 3.896e-4 8.637e-4 Hyper-immunoglobulin e syndrome platelet-type bleeding disorder 16 1 1 ITGB3 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Cervical dysplasia Portal vein thrombosis 1 0 MTHFR (1) 0.20000 0.50000 3.896e-4 8.637e-4 60 Mitral valve disease Portal vein thrombosis 1 0 MTHFR (1) 0.20000 0.50000 3.896e-4 8.637e-4 60 Potocki-lupski syndrome Smith-magenis syndrome 1 1 RAI1 (8) 0.20000 0.50000 3.896e-4 8.637e-4 285 Renal cysts and diabetes syndrome Renal hypoplasia 1 0 PAX2 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Renovascular hypertension Resistant hypertension 1 1 NOS3 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Rh deficiency syndrome Rh isoimmunization 1 1 RHD (3) 0.20000 0.50000 3.896e-4 8.637e-4 306 Rhabdoid tumor Schwannomatosis 1 1 SMARCB1 (3) 0.20000 0.50000 3.896e-4 8.637e-4 299 Rhabdoid tumor predisposition syndrome Schwannomatosis 1 1 SMARCB1 (7) 0.20000 0.50000 3.896e-4 8.637e-4 Congenital hemangioma Schwartz-jampel syndrome 1 1 GNA11 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Cutis marmorata telangiectatica congenita Schwartz-jampel syndrome 1 1 GNA11 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Sitosterolemia Xanthomatosis 1 1 ABCG5 (7) 0.20000 0.50000 3.896e-4 8.637e-4 Aphasia Spinal cord compression 1 1 PLAT (2) 0.20000 0.50000 3.896e-4 8.637e-4 29 Postictal aphasia Spinal cord compression 1 0 PLAT (1) 0.20000 0.50000 3.896e-4 8.637e-4 29 Cholesterol embolism Spinal cord compression 1 0 PLAT (1) 0.20000 0.50000 3.896e-4 8.637e-4 29 Sweat gland disease Vipoma 1 1 SST (2) 0.20000 0.50000 3.896e-4 8.637e-4 340 Hemimelia of limb Synpolydactyly 1 1 HOXD13 (5) 0.20000 0.50000 3.896e-4 8.637e-4 111 Doors syndrome Zimmermann-laband syndrome 1 1 ATP6V1B2 (3) 0.20000 0.50000 3.896e-4 8.637e-4 105 Deafness with congenital onychodystrophy Zimmermann-laband syndrome 1 1 ATP6V1B2 (4) 0.20000 0.50000 3.896e-4 8.637e-4 105 Myoclonic epilepsy with ragged red fibers Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 1 IL1B (2) 0.20000 0.50000 3.896e-4 8.637e-4 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Neuropathic spinal arthropathy 1 0 KAT6B (1) 0.20000 0.50000 3.896e-4 8.637e-4 Congenital palmoplantar and perioral keratoderma of olmsted Olmsted syndrome, x-linked 1 1 MBTPS2 (5) 0.20000 0.50000 3.896e-4 8.637e-4 346 Desmoid tumor Osteopathia striata with cranial sclerosis 1 1 CTNNB1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Cataract-multisystem syndrome X-linked dyskeratosis congenita 1 1 DKC1 (3) 0.20000 0.50000 3.896e-4 8.637e-4 393 Catel-manzke syndrome Congenital vertebral-cardiac-renal anomalies syndrome 1 1 KYNU (3) 0.20000 0.50000 3.896e-4 8.637e-4 421 Caudal regression syndrome Congenital exomphalos 1 0 PCSK5 (1) 0.20000 0.50000 3.896e-4 8.637e-4 109 Caudal regression syndrome Currarino syndrome 1 1 PCSK5 (2) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-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 8.637e-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 8.637e-4 260 Cerebellar ataxia, mental retardation, and dysequilibrium Congenital communicating hydrocephalus 1 1 WDR81 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Cerebellar ataxia, mental retardation, and dysequilibrium Microlissencephaly 1 1 WDR81 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Myofibromatosis 1 1 NOTCH3 (6) 0.20000 0.50000 3.896e-4 8.637e-4 374 Cerebral folate deficiency Dias-logan syndrome 1 1 CIC (2) 0.20000 0.50000 3.896e-4 8.637e-4 Cerebrofacioarticular syndrome Hennekam syndrome 1 1 FAT4 (5) 0.20000 0.50000 3.896e-4 8.637e-4 Chilblain lupus Deoxyguanosine kinase deficiency 1 1 SAMHD1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 159 Cholesterol ester transfer protein deficiency Follicular cyst 1 1 SCARB1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Chromosome 17 deletion Chromosome 17q21.31 deletion syndrome 1 1 KANSL1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Atrial standstill Chromosome 1q21.1 deletion syndrome 1 1 GJA5 (4) 0.20000 0.50000 3.896e-4 8.637e-4 Cleft face White sutton syndrome 1 0 GLI2 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Clonal cytopenia of undetermined significance Transient myeloproliferative disorder 1 0 RUNX1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Cochlear diseases Navajo neurohepatopathy 1 1 MPV17 (3) 0.20000 0.50000 3.896e-4 8.637e-4 Arthrogryposis-renal dysfunction-cholestasis syndrome Congenital scoliosis 1 0 FBN1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 28 Arthrogryposis-renal dysfunction-cholestasis syndrome Crst syndrome 1 0 FBN1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 28 Arthrogryposis-renal dysfunction-cholestasis syndrome Dilatation of pulmonary artery 1 0 FBN1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 28 Asthenozoospermia Cholesterol embolism 1 1 PLAU (2) 0.20000 0.50000 3.896e-4 8.637e-4 29 Asthenozoospermia Intracranial embolism and thrombosis 1 1 PLAU (2) 0.20000 0.50000 3.896e-4 8.637e-4 29 Asthenozoospermia Isolated systolic hypertension 1 1 BSCL2 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Atrial standstill Hypercapnia 1 1 NPPA (4) 0.20000 0.50000 3.896e-4 8.637e-4 140 Atrial standstill Cardiac rhythm disease 1 1 SCN5A (3) 0.20000 0.50000 3.896e-4 8.637e-4 140 Atrial standstill Ectopic rhythm 1 1 SCN5A (2) 0.20000 0.50000 3.896e-4 8.637e-4 140 Autoimmune pancreatitis Benign mucous membrane pemphigoid with ocular involvement 1 0 HLA-DQB1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 1 Autoimmune pancreatitis Bouillaud’s disease 1 0 HLA-DQB1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 1 Acute disseminated encephalomyelitis Autoimmune pancreatitis 1 0 HLA-DQB1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 1 autosomal recessive polycystic kidney disease Polycystic kidney disease with tuberous sclerosis 1 1 PKD1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Becker generalized myotonia Hyperkalemic periodic paralysis 1 0 CLCN1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Benign epithelial tumor of salivary glands Well-differentiated liposarcoma 1 0 HMGA2 (1) 0.20000 0.50000 3.896e-4 8.637e-4 361 Bietti crystalline corneoretinal dystrophy Diastolic heart failure 1 1 ABCA4 (2) 0.20000 0.50000 3.896e-4 8.637e-4 150 Bifunctional enzyme deficiency Fatty acid metabolism disorder 1 1 HSD17B4 (3) 0.20000 0.50000 3.896e-4 8.637e-4 Bilateral perisylvian polymicrogyria Combined immunodeficiency-multiple intestinal atresia 1 0 PI4KA (1) 0.20000 0.50000 3.896e-4 8.637e-4 269 Biliary tract neoplasms Congenital aural atresia 1 1 FGFR2 (2) 0.20000 0.50000 3.896e-4 8.637e-4 38 Biliary tract neoplasms Crouzon syndrome 1 1 FGFR2 (6) 0.20000 0.50000 3.896e-4 8.637e-4 38 Bladder neck obstruction Ovarian diseases 1 1 CYP19A1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 215 Blast crisis Myelogenous leukemia 1 1 BCR (2) 0.20000 0.50000 3.896e-4 8.637e-4 266 Blast crisis Chromosome 22q11.2 microdeletion syndrome 1 1 BCR (3) 0.20000 0.50000 3.896e-4 8.637e-4 266 Blepharophimosis intellectual disability syndrome Blepharophimosis-intellectual disability syndrome 1 1 SMARCA2 (4) 0.20000 0.50000 3.896e-4 8.637e-4 Bohring syndrome Cold-induced sweating syndrome 1 1 KLHL7 (3) 0.20000 0.50000 3.896e-4 8.637e-4 343 Bohring syndrome Crisponi syndrome 1 1 KLHL7 (2) 0.20000 0.50000 3.896e-4 8.637e-4 343 Bor syndrome Branchiooculofacial syndrome 1 1 EYA1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 134 Bowed long bones Bruck syndrome 1 1 PLOD2 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Brachydactyly-elbow wrist dysplasia syndrome Pfaundler-hurler syndrome 1 1 PITX1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 300 Brown-vialetto-van laere syndrome Bulbar palsy 1 1 SLC52A3 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Bruck syndrome Buruli ulcer 1 1 PLOD2 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Calcium pyrophosphate deposition Chondrocalcinosis 1 1 ANKH (6) 0.20000 0.50000 3.896e-4 8.637e-4 208 Calcium pyrophosphate deposition Craniometaphyseal dysplasia 1 1 ANKH (6) 0.20000 0.50000 3.896e-4 8.637e-4 208 Canavan disease Olmsted syndrome 1 0 SPATA22 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Capillary leak syndrome Coronary artery vasospasm 1 0 PON1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 326 Carbamoyl phosphate synthetase deficiency Congenital facial anomaly 1 0 CAD (1) 0.20000 0.50000 3.896e-4 8.637e-4 347 Biliary tract neoplasms Cardiofacial dysplasia 1 1 PRKACB (5) 0.20000 0.50000 3.896e-4 8.637e-4 38 Cartilage-hair hypoplasia Metaphyseal dysplasia 1 0 CCDC107 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Dermatosparaxis ehlers-danlos syndrome Geleophysic dysplasia 1 1 ADAMTSL2 (5) 0.20000 0.50000 3.896e-4 8.637e-4 28 Blue cone monochromatism Deuteranomaly 1 1 OPN1MW (6) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-4 220 Diffuse mesangial sclerosis Digenic alport syndrome 1 1 COL4A4 (2) 0.20000 0.50000 3.896e-4 8.637e-4 91 Donnai-barrow syndrome Vitamin d deficiency 1 1 LRP2 (5) 0.20000 0.50000 3.896e-4 8.637e-4 Duane-radial ray syndrome Vissers-bodmer syndrome 1 1 IPO8 (4) 0.20000 0.50000 3.896e-4 8.637e-4 95 Dysphonia Mitochondrial hepatopathy 1 0 TWNK (1) 0.20000 0.50000 3.896e-4 8.637e-4 181 Amyloid neuropathy Early onset alzheimers disease with behavioral disturbance 1 1 PSEN1 (2) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-4 Congenital scoliosis Ectopia lentis 1 1 FBN1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 28 Crst syndrome Ectopia lentis 1 1 FBN1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 28 Dilatation of pulmonary artery Ectopia lentis 1 1 FBN1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 28 14q11.2 microduplication syndrome Intellectual developmental disorder autism dysmorphic 1 1 CHD8 (5) 0.20000 0.50000 3.896e-4 8.637e-4 280 17p11.2 microduplication syndrome Smith-magenis syndrome 1 1 RAI1 (7) 0.20000 0.50000 3.896e-4 8.637e-4 285 17q12 microdeletion syndrome Renal cysts and diabetes syndrome 1 1 HNF1B (7) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-4 Acne inversa Early onset alzheimers disease with behavioral disturbance 1 1 PSEN1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 151 Acrocallosal syndrome White sutton syndrome 1 0 GLI3 (1) 0.20000 0.50000 3.896e-4 8.637e-4 192 Adrenoleukodystrophy Encephalitis 1 1 ABCD1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 Alagille syndrome Corneal opacity 1 1 JAG1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 373 Alpha-1 antichymotrypsin deficiency Rh deficiency syndrome 1 1 RHD (3) 0.20000 0.50000 3.896e-4 8.637e-4 306 Anastomosing haemangioma Cutis marmorata telangiectatica congenita 1 1 GNA11 (2) 0.20000 0.50000 3.896e-4 8.637e-4 65 Anastomosing haemangioma Port-wine stain 1 1 GNAQ (3) 0.20000 0.50000 3.896e-4 8.637e-4 65 Activated pi3k-delta syndrome Anisometropia 1 1 PTEN (2) 0.20000 0.50000 3.896e-4 8.637e-4 Anisometropia Retinal vasculopathy with cerebral leukodystrophy 1 1 PTEN (2) 0.20000 0.50000 3.896e-4 8.637e-4 Antithrombin deficiency Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 1 IL1B (2) 0.20000 0.50000 3.896e-4 8.637e-4 Antithrombin deficiency Diffuse panbronchiolitis 1 1 MUC5B (2) 0.20000 0.50000 3.896e-4 8.637e-4 Antley-bixler syndrome Congenital aural atresia 1 1 FGFR2 (6) 0.20000 0.50000 3.896e-4 8.637e-4 38 Aplasia cutis congenita with epibulbar dermoids Arteriovenous malformations 1 1 KRAS (2) 0.20000 0.50000 3.896e-4 8.637e-4 Aplasia cutis congenita with epibulbar dermoids Encephalocraniocutaneous lipomatosis 1 1 KRAS (2) 0.20000 0.50000 3.896e-4 8.637e-4 Aplasia cutis congenita with epibulbar dermoids Toriello-carey syndrome 1 1 KRAS (2) 0.20000 0.50000 3.896e-4 8.637e-4 Apnea Paresis 1 1 BCHE (2) 0.20000 0.50000 3.896e-4 8.637e-4 397 Apolipoprotein a-i deficiency Ataxia with vitamin e deficiency 1 1 APOA1 (4) 0.20000 0.50000 3.896e-4 8.637e-4 293 Arachnoid cysts Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1 0 GPHN (1) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-4 346 Congenital respiratory system anomaly Eosinophilic leukemia 1 1 PDGFRA (2) 0.20000 0.50000 3.896e-4 8.637e-4 Congenital thrombotic thrombocytopenic purpura Three-vessel coronary artery disease 1 1 ADAMTS13 (3) 0.20000 0.50000 3.896e-4 8.637e-4 325 Conjunctivitis Leukocyte disorders 1 1 PLG (2) 0.20000 0.50000 3.896e-4 8.637e-4 246 Coronary artery vasospasm Renovascular hypertension 1 1 NOS3 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Cortical occipital malformations Intellectual developmental disorder speech autism dysmorphic 1 0 TBR1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 220 Coumarin resistance Large cell carcinoma 1 1 CYP2A6 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Capillary malformation Cutis marmorata telangiectatica congenita 1 1 GNA11 (2) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-4 65 Cutis marmorata telangiectatica congenita Hypocalciuric hypercalcemia 1 1 GNA11 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Cystathionine beta-synthase deficiency Ventricular hypertrophy 1 0 PKHD1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 74 autosomal recessive polycystic kidney disease Cystathionine beta-synthase deficiency 1 1 PKHD1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 74 Deafness, aminoglycoside-induced Infantile liver failure 1 1 TRMU (4) 0.20000 0.50000 3.896e-4 8.637e-4 Deafness, dystonia, and cerebral hypomyelination Encephalitis 1 0 ABCD1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Colonic polyps Thoracic disease 1 1 ILK (2) 0.20000 0.50000 3.896e-4 8.637e-4 Combined deficiency of factor v and factor viii Combined immunodeficiency, enteropathy spectrum 1 1 MCFD2 (3) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-4 Combined factor v and factor viii deficiency Combined immunodeficiency, enteropathy spectrum 1 1 MCFD2 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Combined factor v and factor viii deficiency Gastrointestinal defects and immunodeficiency syndrome 1 1 MCFD2 (6) 0.20000 0.50000 3.896e-4 8.637e-4 Activated pi3k-delta syndrome Combined immunodeficiency with facio-oculo-skeletal anomalies 1 1 PIK3CD (3) 0.20000 0.50000 3.896e-4 8.637e-4 375 Combined immunodeficiency with granulomatosis Salla disease 1 1 RAG2 (2) 0.20000 0.50000 3.896e-4 8.637e-4 176 Combined immunodeficiency-multiple intestinal atresia Heparin cofactor 2 deficiency 1 1 PI4KA (2) 0.20000 0.50000 3.896e-4 8.637e-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 8.637e-4 Congenital cardiomyopathy Myoclonic epilepsy with ragged red fibers 1 0 ND5 (1) 0.20000 0.50000 3.896e-4 8.637e-4 26 Congenital facial anomaly Hypoplastic anemia 1 1 CAD (2) 0.20000 0.50000 3.896e-4 8.637e-4 347 Congenital facial anomaly Congenital hypoplastic anemia 1 0 CAD (1) 0.20000 0.50000 3.896e-4 8.637e-4 347 Congenital hemangioma Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 1 1 GNA11 (2) 0.20000 0.50000 3.896e-4 8.637e-4 65 Congenital kidney anomaly Polycystic kidney disease with tuberous sclerosis 1 1 PKD1 (2) 0.20000 0.50000 3.896e-4 8.637e-4 48 Congenital kidney anomaly Renovascular hypertension 1 0 PKD1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 48 Congenital kidney anomaly Pancreatic cyst 1 0 PKD1 (1) 0.20000 0.50000 3.896e-4 8.637e-4 Congenital leukocyte adherence deficiency Leukocyte disorders 1 1 ITGB2 (2) 0.20000 0.50000 3.896e-4 8.637e-4 Benign infantile epilepsy Cognitive impairment with or without cerebellar ataxia 1 1 SCN8A (6) 0.14286 1.00000 3.897e-4 8.637e-4 Cognitive impairment with or without cerebellar ataxia Focal onset epileptic seizure 1 1 SCN8A (5) 0.14286 1.00000 3.897e-4 8.637e-4 424 Cardiac valvular dysplasia COL1A2-related Ehlers-Danlos syndrome 1 1 COL1A2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cardiac valvular dysplasia COL1A2-related osteogenesis imperfecta 1 1 COL1A2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Colchicine resistance Cryoglobulinemia 1 1 ABCB1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cold autoinflammatory syndrome Infantile neurological cutaneous and articular syndrome 1 1 NLRP3 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Cold autoinflammatory syndrome Congenital factor xii deficiency 1 1 F12 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Adenomatous polyposis Colorectal adenomatous polyposis 1 1 MUTYH (4) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 Congenital bile acid synthesis defect Oxysterol accumulation disorder 1 1 CYP7B1 (6) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital chromosomal disease Tumor predisposition syndrome 1 1 POT1 (6) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Digitotalar dysmorphism 1 1 NALCN (5) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital finger flexion contractures Digitotalar dysmorphism 1 1 TNNI2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 258 Congenital generalized lipodystrophy Intellectual developmental disorder speech ambulation 1 1 ACTL6B (3) 0.14286 1.00000 3.897e-4 8.637e-4 79 Congenital glucokinase-related hyperinsulinism Congenital hyperinsulinism 1 1 GCK (3) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hearing disorder SF3B4-related acrofacial dysostosis 1 1 SF3B4 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hearing disorder long qt syndrome 5 1 1 KCNE1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hernia of foramen of bochdalek Eyelid disease 1 1 EFEMP1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 152 Congenital hypothyroidism without goiter Interrupted aortic arch 1 0 NKX2-5 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital insensitivity to pain hereditary sensory and autonomic neuropathy type 7 1 1 SCN11A (2) 0.14286 1.00000 3.897e-4 8.637e-4 171 Congenital limbs-face contractures-hypotonia-developmental delay syndrome Digitotalar dysmorphism 1 1 NALCN (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital malformation syndromes associated with short stature Hairy cell leukemia 1 1 BRAF (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital malformation syndromes associated with short stature Osteochondroma 1 1 PTPN11 (2) 0.14286 1.00000 3.897e-4 8.637e-4 49 Congenital methemoglobinemia Methemoglobinemia 1 1 CYB5R3 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Bilateral vestibulopathy Hereditary sensory and motor neuropathy 1 1 RFC1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 243 Bile duct disorder PRKAG2-related cardiomyopathy 1 1 PRKAG2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 328 Blomstrand lethal chondrodysplasia Rickets 1 1 PTH1R (3) 0.14286 1.00000 3.897e-4 8.637e-4 Bothnia retinal dystrophy Retinitis punctata albescens 1 1 RLBP1 (6) 0.14286 1.00000 3.897e-4 8.637e-4 Brachial plexus neuritis Monomelic amyotrophy 1 1 SEPTIN9 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Brain-lung-thyroid syndrome Choreoathetosis 1 1 NKX2-1 (6) 0.14286 1.00000 3.897e-4 8.637e-4 Branchial arch abnormalities syndrome Vein of galen aneurysm 1 1 KMT2D (3) 0.14286 1.00000 3.897e-4 8.637e-4 95 Branchial cleft anomalies Vein of galen aneurysm 1 0 KMT2D (1) 0.14286 1.00000 3.897e-4 8.637e-4 95 BRCA1-related cancer predisposition Breast implant-associated anaplastic large cell lymphoma 1 1 BRCA1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Adrenocortical carcinoma Breast implant-associated anaplastic large cell lymphoma 1 1 TP53 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Breast implant-associated anaplastic large cell lymphoma Choroid plexus carcinoma 1 1 TP53 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Breast implant-associated anaplastic large cell lymphoma Choroid plexus papilloma 1 1 TP53 (3) 0.14286 1.00000 3.897e-4 8.637e-4 C1 esterase inhibitor deficiency Hereditary c1 esterase inhibitor deficiency 1 1 SERPING1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 C1 esterase inhibitor deficiency C9 deficiency 1 1 C9 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cadasil Type i interferonopathy 1 1 TREX1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 159 Cadasil retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 1 1 TREX1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 159 Café-au-lait macules Cafe-au-lait spots 1 1 LZTR1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Café-au-lait macules Congenital malformation syndromes associated with short stature 1 1 LZTR1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 17q11.2 microduplication syndrome Cafe-au-lait spots 1 1 NF1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 71 Cafe-au-lait spots Cervical lymphadenopathy 1 1 NF1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 71 Cafe-au-lait spots Watson syndrome 1 1 NF1 (4) 0.14286 1.00000 3.897e-4 8.637e-4 71 Aortic arch syndrome Carbamazepine hypersensitivity 1 1 HLA-B (2) 0.14286 1.00000 3.897e-4 8.637e-4 179 Carbamazepine hypersensitivity Cervical intraepithelial neoplasia 1 1 HLA-B (2) 0.14286 1.00000 3.897e-4 8.637e-4 Carcinoma in situ Curling ulcer 1 1 PTGS2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 215 Carcinoma in situ Intestinal polyps 1 0 PTGS2 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Cardiac valvular dysplasia Congenital idiopathic intestinal pseudoobstruction 1 1 FLNA (5) 0.14286 1.00000 3.897e-4 8.637e-4 42 Cardiac valvular dysplasia Otopalatodigital spectrum disorder 1 1 FLNA (5) 0.14286 1.00000 3.897e-4 8.637e-4 42 Cardiac valvular dysplasia Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.14286 1.00000 3.897e-4 8.637e-4 42 Cardiac valvular dysplasia X-linked ehlers-danlos syndrome 1 1 FLNA (6) 0.14286 1.00000 3.897e-4 8.637e-4 42 Cardiac valvular dysplasia X-linked keloid scarring syndrome 1 1 FLNA (6) 0.14286 1.00000 3.897e-4 8.637e-4 42 Carotid artery thrombosis Thrombomodulin-related bleeding disorder 1 1 THBD (5) 0.14286 1.00000 3.897e-4 8.637e-4 Carotid artery thrombosis Congenital prekallikrein deficiency 1 1 KLKB1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Carotid atherosclerosis Small cell ovary carcinoma 1 1 SMARCA4 (2) 0.14286 1.00000 3.897e-4 8.637e-4 261 CDKL5 disorder Cyclin-dependent kinase-like 5 deficiency 1 1 CDKL5 (2) 0.14286 1.00000 3.897e-4 8.637e-4 55 CEP290-related ciliopathy Stuve-wiedemann syndrome 1 1 CEP290 (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-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 8.637e-4 243 Cerebellar ataxia, intellectual disability, and dysequilibrium Cerebellar hypoplasia 1 1 VLDLR (3) 0.14286 1.00000 3.897e-4 8.637e-4 260 Cerebellar dysfunction with variable cognitive and behavioral abnormalities lichtenstein-knorr syndrome 1 1 SLC9A1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cerebellar hypoplasia Dysequilibrium syndrome 1 1 VLDLR (3) 0.14286 1.00000 3.897e-4 8.637e-4 260 Cadasil cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 1 1 NOTCH3 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Cerebral cavernous malformation Rickets, x-linked hypophosphatemic 1 1 PHEX (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cerebrofaciothoracic dysplasia Congenital musculoskeletal anomalies 1 1 TMCO1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cerebrovascular trauma Paralytic strabismus 1 1 PHACTR1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cervical disc degenerative disorder Refractory anemia 1 1 TNF (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cervical disc degenerative disorder Peritoneal fibrosis 1 1 TGFB1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cervical disc degenerative disorder inflammatory bowel disease, immunodeficiency, and encephalopathy 1 1 TGFB1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Caffey disease Cervical disc degenerative disorder 1 1 COL1A1 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Charcot-Marie-Tooth disease type 1A Hereditary sensory and motor neuropathy 1 1 PMP22 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Charcot-Marie-Tooth disease type 4 Hereditary sensory and motor neuropathy 1 1 PRX (2) 0.14286 1.00000 3.897e-4 8.637e-4 243 CHEK2-related cancer predisposition Tumor predisposition syndrome 1 1 CHEK2 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Choreoathetosis Testicular regression syndrome 1 0 DHX37 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Choreoathetosis Cognitive impairment with or without cerebellar ataxia 1 1 SCN8A (5) 0.14286 1.00000 3.897e-4 8.637e-4 Choreoathetosis Chromosome 17q23.1-q23.2 deletion syndrome 1 1 SLC2A1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 99 Choreoathetosis Glucose transporter type 1 deficiency syndrome 1 1 SLC2A1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 99 Choreoathetosis Epilepsy with myoclonic absence 1 1 SLC2A1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 99 Choroidal melanoma Warburg-cinotti syndrome 1 1 DDR2 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Choroidal melanoma spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 1 1 DDR2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Choroidal neovascularization Diabetes microvascular complications 1 1 VEGFA (2) 0.14286 1.00000 3.897e-4 8.637e-4 163 Chromophobe renal cell carcinoma Idiopathic diabetes 1 1 HNF1A (2) 0.14286 1.00000 3.897e-4 8.637e-4 Chromosome 17p13.3 microdeletion syndrome Clear cell sarcoma of kidney 1 1 YWHAE (2) 0.14286 1.00000 3.897e-4 8.637e-4 225 Chromosome 22q11.2 deletion syndrome Pulmonary surfactant metabolism dysfunction 1 1 ABCA3 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Chronic pain Congenital insensitivity to pain 1 1 SCN9A (3) 0.14286 1.00000 3.897e-4 8.637e-4 171 Cinca syndrome Cold autoinflammatory syndrome 1 1 NLRP3 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Clear cell sarcoma of kidney dyskeratosis congenita, autosomal dominant 2 1 1 TERT (2) 0.14286 1.00000 3.897e-4 8.637e-4 Clear cell sarcoma of kidney microphthalmia, syndromic 2 1 1 BCOR (2) 0.14286 1.00000 3.897e-4 8.637e-4 225 Cleft lip with or without cleft palate Hereditary diffuse gastric and lobular breast cancer syndrome 1 1 CDH1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 165 17q23.1q23.2 microdeletion syndrome Clubfoot 1 1 TBX4 (2) 0.14286 1.00000 3.897e-4 8.637e-4 27 Amelia Clubfoot 1 1 TBX4 (4) 0.14286 1.00000 3.897e-4 8.637e-4 27 Chromosome 17q23.1-q23.2 duplication syndrome Clubfoot 1 1 TBX4 (2) 0.14286 1.00000 3.897e-4 8.637e-4 27 Clubfoot Coxopodopatellar syndrome 1 1 TBX4 (3) 0.14286 1.00000 3.897e-4 8.637e-4 27 Cockayne syndrome xeroderma pigmentosum group F 1 1 ERCC4 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Arginine-glycine amidinotransferase deficiency Fanconi syndrome 1 1 GATM (5) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-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 8.637e-4 60 Ateleiotic dwarfism Pituitary neoplasms 1 1 GH1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 ATM-related cancer predisposition Cardiac valvular dysplasia 1 1 ATM (2) 0.14286 1.00000 3.897e-4 8.637e-4 Atypical fanconi syndrome Congenital hyperinsulinism 1 1 HNF4A (2) 0.14286 1.00000 3.897e-4 8.637e-4 atypical hemolytic-uremic syndrome with C3 anomaly Cold paroxysmal hemoglobinuria 1 1 C3 (2) 0.14286 1.00000 3.897e-4 8.637e-4 atypical hemolytic-uremic syndrome with C3 anomaly Hemoglobinuria paroxysmal 1 1 C3 (2) 0.14286 1.00000 3.897e-4 8.637e-4 atypical hemolytic-uremic syndrome with C3 anomaly Paroxysmal nocturnal hemoglobinuria 1 1 C3 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Autism, x-linked Central apnea 1 1 MECP2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 55 Autism, x-linked Neonatal encephalopathy 1 1 MECP2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 55 Autism, x-linked X-linked myopathy with excessive autophagy 1 1 RPL10 (5) 0.14286 1.00000 3.897e-4 8.637e-4 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Idiopathic diabetes 1 1 CTLA4 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Autoinflammation, antibody deficiency, and immune dysregulation Cold autoinflammatory syndrome 1 1 PLCG2 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Autoinflammation, immune dysregulation, and eosinophilia Breast implant-associated anaplastic large cell lymphoma 1 1 JAK1 (5) 0.14286 1.00000 3.897e-4 8.637e-4 167 Autosomal dominant sensorineural deafness Infantile neurological cutaneous and articular syndrome 1 1 NLRP3 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Autosomal dominant sensorineural deafness Cinca syndrome 1 1 NLRP3 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Autosomal dominant sensorineural deafness Hearing loss with hypertrophic cardiomyopathy 1 0 MYO6 (1) 0.14286 1.00000 3.897e-4 8.637e-4 407 Autosomal dominant sensorineural deafness Peripheral neuropathy with sensorineural hearing impairment syndrome 1 0 GJB3 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Autosomal dominant sensorineural deafness Sebastian syndrome 1 1 MYH9 (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 BAP1-related tumor predisposition syndrome Tumor predisposition syndrome 1 1 BAP1 (4) 0.14286 1.00000 3.897e-4 8.637e-4 368 Benign infantile epilepsy neonatal-onset developmental and epileptic encephalopathy 1 1 KCNQ2 (3) 0.14286 1.00000 3.897e-4 8.637e-4 213 Benign paroxysmal torticollis of infancy Cyclin-dependent kinase-like 5 deficiency 1 1 CACNA1A (2) 0.14286 1.00000 3.897e-4 8.637e-4 55 Berardinelli-seip congenital lipodystrophy Carotid intima-media thickness 1 0 PPARG (1) 0.14286 1.00000 3.897e-4 8.637e-4 79 Bethlem myopathy dystonia 27 1 1 COL6A3 (7) 0.14286 1.00000 3.897e-4 8.637e-4 307 Bilateral cleft lip Cleft lip with or without cleft palate 1 0 PLEKHA5 (1) 0.14286 1.00000 3.897e-4 8.637e-4 165 Congenital muscular hypertrophy-cerebral syndrome De lange syndrome 1 1 SMC1A (3) 0.14286 1.00000 3.897e-4 8.637e-4 301 Congenital musculoskeletal anomalies Distichiasis-lymphedema syndrome 1 1 FOXC2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital musculoskeletal anomalies Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 1 0 FOXC2 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital musculoskeletal anomalies lymphedema-distichiasis syndrome 1 1 FOXC2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retinal aneurysm Cyclin-dependent kinase-like 5 deficiency 1 0 RS1 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retinal anomaly Cyclin-dependent kinase-like 5 deficiency 1 0 RS1 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retrognathism kbg syndrome 1 1 ANKRD11 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retrognathism Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency 1 0 ABCC8 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retrognathism Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency 1 1 ABCC8 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retrognathism hyperinsulinemic hypoglycemia, familial, 1 1 1 ABCC8 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital sclerocornea Sutural cataract 1 1 GJA8 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital sensory neuropathy Skin ulcer 1 1 NGF (3) 0.14286 1.00000 3.897e-4 8.637e-4 142 Congenital thyroid atrophy Interrupted aortic arch 1 0 NKX2-5 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Bethlem myopathy Congenital-onset steinert myotonic dystrophy 1 1 DMPK (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cardiac valvular dysplasia Conjunctival telangiectasis 1 0 ATM (1) 0.14286 1.00000 3.897e-4 8.637e-4 Contracture of multiple joints dystonia 27 1 1 COL6A3 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Contracture of multiple joints Schaaf-yang syndrome 1 1 MAGEL2 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Contracture of multiple joints lethal congenital contracture syndrome 11 1 1 GLDN (2) 0.14286 1.00000 3.897e-4 8.637e-4 Contracture of multiple joints Encephaloclastic proliferative vasculopathy 1 1 FLVCR2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Contractures, pterygia, and spondylocarpotarsal fusion syndrome Digitotalar dysmorphism 1 1 MYH3 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Contractures, pterygia, and variable skeletal fusions syndrome Digitotalar dysmorphism 1 1 MYH3 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cryptogenic multifocal ulcerous stenosing enteritis Curling ulcer 1 1 PLA2G4A (2) 0.14286 1.00000 3.897e-4 8.637e-4 Curling ulcer Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder 1 1 PLA2G4A (5) 0.14286 1.00000 3.897e-4 8.637e-4 Curling ulcer Urinary bladder neck obstruction 1 1 PTGS2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 215 CYP1B1-related glaucoma with or without anterior segment dysgenesis Hydrophthalmos 1 1 CYP1B1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cytochrome-b5 reductase deficiency Methemoglobinemia 1 1 CYB5R3 (6) 0.14286 1.00000 3.897e-4 8.637e-4 Dacryocystitis Exanthema 1 1 IL1RN (2) 0.14286 1.00000 3.897e-4 8.637e-4 219 Deafness-lymphedema-leukemia syndrome Vascular remodeling 1 1 GATA2 (3) 0.14286 1.00000 3.897e-4 8.637e-4 126 Diabetes microvascular complications renal tubular dysgenesis - ACE 1 1 ACE (3) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency 1 1 KCNJ11 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency 1 1 ABCC8 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency 1 1 ABCC8 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Digitotalar dysmorphism TPM2-related myopathy 1 1 TPM2 (3) 0.14286 1.00000 3.897e-4 8.637e-4 258 Distichiasis-lymphedema syndrome Eyelid disease 1 1 FOXC2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Ductus arteriosus, patent TFAP2B-related congenital heart disease spectrum disorder 1 1 TFAP2B (2) 0.14286 1.00000 3.897e-4 8.637e-4 Collagen vi-related myopathy dystonia 27 1 1 COL6A3 (2) 0.14286 1.00000 3.897e-4 8.637e-4 307 Cardiac valvular dysplasia ehlers-danlos syndrome, cardiac valvular type 1 1 COL1A2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Clubfoot ehlers-danlos syndrome, musculocontractural type 1 1 1 CHST14 (2) 0.14286 1.00000 3.897e-4 8.637e-4 27 Eiken skeletal dysplasia Rickets 1 1 PTH1R (6) 0.14286 1.00000 3.897e-4 8.637e-4 17q11.2 microduplication syndrome Embryonal nuclear cataract 1 0 NF1 (1) 0.14286 1.00000 3.897e-4 8.637e-4 71 Cervical lymphadenopathy Embryonal nuclear cataract 1 1 NF1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 71 Embryonal nuclear cataract Watson syndrome 1 1 NF1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 71 Adrenocortical carcinoma Embryonal nuclear cataract 1 1 TP53 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Choroid plexus carcinoma Embryonal nuclear cataract 1 1 TP53 (2) 0.14286 1.00000 3.897e-4 8.637e-4 16q24.3 microdeletion syndrome Congenital retrognathism 1 1 ANKRD11 (2) 0.14286 1.00000 3.897e-4 8.637e-4 17-beta-hydroxysteroid dehydrogenase deficiency Disorders of sex development 1 1 HSD17B3 (4) 0.14286 1.00000 3.897e-4 8.637e-4 363 1p21.3 microdeletion syndrome Anal polyp 1 1 DPYD (3) 0.14286 1.00000 3.897e-4 8.637e-4 365 3-hydroxyacyl-coa dehydrogenase deficiency Congenital hyperinsulinism 1 1 HADH (4) 0.14286 1.00000 3.897e-4 8.637e-4 Adams-oliver syndrome NOTCH1-related AOS spectrum disorder 1 1 NOTCH1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Adenomatous polyposis Brain tumor-polyposis syndrome 1 1 APC (5) 0.14286 1.00000 3.897e-4 8.637e-4 Adenomatous polyposis Familial adenomatous polyposis 1 1 APC (7) 0.14286 1.00000 3.897e-4 8.637e-4 Adenomatous polyposis gastric adenocarcinoma and proximal polyposis of the stomach 1 1 APC (6) 0.14286 1.00000 3.897e-4 8.637e-4 Agat deficiency Fanconi syndrome 1 1 GATM (5) 0.14286 1.00000 3.897e-4 8.637e-4 Alpha-methylacyl-coa racemase deficiency Congenital bile acid synthesis defect 1 1 AMACR (7) 0.14286 1.00000 3.897e-4 8.637e-4 387 Alpha-methylacyl-coa racemase deficiency Hereditary sensory and motor neuropathy 1 1 AMACR (3) 0.14286 1.00000 3.897e-4 8.637e-4 amyotrophic lateral sclerosis type 1 Hemolysis 1 1 SOD1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Anal polyp Dihydropyrimidine dehydrogenase deficiency 1 1 DPYD (7) 0.14286 1.00000 3.897e-4 8.637e-4 365 Anterior compartment syndrome Hemolysis 1 1 HMOX1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 194 Anterior compartment syndrome Pancreatic diseases 1 1 HMOX1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 194 Aortic arch syndrome Autoimmune pulmonary alveolar proteinosis 1 1 HLA-DRB1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Aortic arch syndrome Heerfordt syndrome 1 0 HLA-DRB1 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Arboleda-tham syndrome Vein of galen aneurysm 1 1 KAT6A (3) 0.14286 1.00000 3.897e-4 8.637e-4 Clubfoot nail-patella syndrome 1 1 LMX1B (2) 0.14286 1.00000 3.897e-4 8.637e-4 27 Benign infantile epilepsy neonatal encephalopathy with non-epileptic myoclonus 1 1 KCNQ2 (3) 0.14286 1.00000 3.897e-4 8.637e-4 213 Hypocalcemia neonatal severe primary hyperparathyroidism 1 1 CASR (7) 0.14286 1.00000 3.897e-4 8.637e-4 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 8.637e-4 46,xx ovotesticular disorder of sex development NR5A1-related sex development disorder 1 1 NR5A1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 183 Adenomatous polyposis NTHL1-deficiency tumor predisposition syndrome 1 1 NTHL1 (5) 0.14286 1.00000 3.897e-4 8.637e-4 48 NTHL1-deficiency tumor predisposition syndrome Tuberous sclerosis complex 1 1 NTHL1 (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 obsolete Stüve-Wiedemann syndrome Stuve-wiedemann syndrome 1 1 LIFR (6) 0.14286 1.00000 3.897e-4 8.637e-4 146 Osteochondroma Right ventricular hypertrophy 1 1 PTPN11 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cafe-au-lait spots Osteoma cutis 1 1 GNAS (2) 0.14286 1.00000 3.897e-4 8.637e-4 Hypocalcemia Osteoma cutis 1 0 GNAS (1) 0.14286 1.00000 3.897e-4 8.637e-4 Exanthema systemic lupus erythematosus related to C1QA 1 1 C1QA (2) 0.14286 1.00000 3.897e-4 8.637e-4 Thrombocythemia with distal limb defects Thrombocytosis 1 1 THPO (4) 0.14286 1.00000 3.897e-4 8.637e-4 98 Thrombocythemia Thrombocythemia with distal limb defects 1 1 THPO (5) 0.14286 1.00000 3.897e-4 8.637e-4 98 Aortic arch syndrome Thrombophlebitis 1 0 HLA-B (1) 0.14286 1.00000 3.897e-4 8.637e-4 179 Cervical intraepithelial neoplasia Thrombophlebitis 1 1 HLA-B (2) 0.14286 1.00000 3.897e-4 8.637e-4 fanconi anemia complementation group d1 Tumor predisposition syndrome 1 1 BRCA2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 BRCA2-related cancer predisposition Tumor predisposition syndrome 1 1 BRCA2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Palmoplantar keratoderma with congenital alopecia Vascular remodeling 1 1 GJA1 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Wolfram syndrome Wolfram-like syndrome 1 1 WFS1 (7) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-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 8.637e-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 8.637e-4 Cerebral cavernous malformation X-linked dominant hypophosphatemic rickets 1 1 PHEX (3) 0.14286 1.00000 3.897e-4 8.637e-4 Cerebral cavernous malformation X-linked hypophosphatemia 1 1 PHEX (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cyclin-dependent kinase-like 5 deficiency X-linked retinoschisis 1 1 RS1 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Cerebrooculofacioskeletal syndrome xeroderma pigmentosum group D 1 1 ERCC2 (7) 0.14286 1.00000 3.897e-4 8.637e-4 Cerebrooculofacioskeletal syndrome xeroderma pigmentosum group G 1 1 ERCC5 (7) 0.14286 1.00000 3.897e-4 8.637e-4 EPHB4-associated vascular malformation spectrum Vein of galen aneurysm 1 1 EPHB4 (2) 0.14286 1.00000 3.897e-4 8.637e-4 95 Epidermolysa bullosa simplex and limb girdle muscular dystrophy Other epidermolysis bullosa 1 1 PLEC (2) 0.14286 1.00000 3.897e-4 8.637e-4 229 Erythropoietic protoporphyria X-linked erythropoietic protoporphyria 1 1 ALAS2 (7) 0.14286 1.00000 3.897e-4 8.637e-4 Diabetes microvascular complications Esophageal stenosis 1 1 SOD2 (3) 0.14286 1.00000 3.897e-4 8.637e-4 163 Exanthema Hyper-igd syndrome 1 1 MVK (2) 0.14286 1.00000 3.897e-4 8.637e-4 Carbamazepine hypersensitivity Exanthema 1 1 HLA-B (2) 0.14286 1.00000 3.897e-4 8.637e-4 Exanthema Thrombophlebitis 1 1 HLA-B (2) 0.14286 1.00000 3.897e-4 8.637e-4 Exanthema Sclerosis 1 0 IL1RN (1) 0.14286 1.00000 3.897e-4 8.637e-4 219 Eyelid disease Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 1 0 FOXC2 (1) 0.14286 1.00000 3.897e-4 8.637e-4 EYS-related retinopathy Retinitis punctata albescens 1 1 EYS (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cold autoinflammatory syndrome Factor xii deficiency 1 1 F12 (5) 0.14286 1.00000 3.897e-4 8.637e-4 familial hemiplegic migraine Focal onset epileptic seizure 1 1 SCN1A (2) 0.14286 1.00000 3.897e-4 8.637e-4 Fanconi anemia complementation group A Renal pelvis neoplasms 1 1 FANCA (2) 0.14286 1.00000 3.897e-4 8.637e-4 Breast implant-associated anaplastic large cell lymphoma fanconi anemia, complementation group s 1 1 BRCA1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Focal onset epileptic seizure intellectual disability, autosomal dominant 42 1 1 GNB1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 424 Adenomatous polyposis Folic acid deficiency 1 1 DHFR (2) 0.14286 1.00000 3.897e-4 8.637e-4 48 Contracture of multiple joints Fowler syndrome 1 1 FLVCR2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Axenfeld-rieger syndrome FOXC1-related anterior segment dysgenesis 1 1 FOXC1 (7) 0.14286 1.00000 3.897e-4 8.637e-4 82 free sialic acid storage disease Gitelman syndrome 1 1 SLC17A5 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Arginine vasopressin deficiency Gastrointestinal hemorrhage 1 1 AVP (2) 0.14286 1.00000 3.897e-4 8.637e-4 Gastrointestinal hemorrhage Hereditary arginine vasopressin deficiency 1 1 AVP (2) 0.14286 1.00000 3.897e-4 8.637e-4 Brain tumor-polyposis syndrome Gastrointestinal hemorrhage 1 1 APC (2) 0.14286 1.00000 3.897e-4 8.637e-4 37 Familial adenomatous polyposis Gastrointestinal hemorrhage 1 1 APC (3) 0.14286 1.00000 3.897e-4 8.637e-4 37 gastric adenocarcinoma and proximal polyposis of the stomach Gastrointestinal hemorrhage 1 1 APC (2) 0.14286 1.00000 3.897e-4 8.637e-4 37 Gata2 deficiency Vascular remodeling 1 1 GATA2 (4) 0.14286 1.00000 3.897e-4 8.637e-4 126 Genetic renal tubular disease Gitelman syndrome 1 1 SLC12A3 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Gitelman syndrome mucopolysaccharidosis type 1 1 1 IDUA (2) 0.14286 1.00000 3.897e-4 8.637e-4 Gitelman syndrome neonatal severe primary hyperparathyroidism 1 1 CASR (2) 0.14286 1.00000 3.897e-4 8.637e-4 Gitelman syndrome Hypokalemia-hypomagnesemia 1 1 SLC12A3 (6) 0.14286 1.00000 3.897e-4 8.637e-4 glaucoma 3, primary congenital, d Hydrophthalmos 1 1 LTBP2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retrognathism greenberg dysplasia 1 1 LBR (2) 0.14286 1.00000 3.897e-4 8.637e-4 281 Idiopathic diabetes Ventricular outflow obstruction 1 1 INS (2) 0.14286 1.00000 3.897e-4 8.637e-4 Idiopathic diabetes Interleukin 2 receptor deficiency 1 1 IL2RA (2) 0.14286 1.00000 3.897e-4 8.637e-4 Idiopathic diabetes immunodeficiency due to CD25 deficiency 1 1 IL2RA (2) 0.14286 1.00000 3.897e-4 8.637e-4 Axenfeld-rieger syndrome IFT140-related recessive ciliopathy 1 1 IFT140 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Carotid artery thrombosis inherited prekallikrein deficiency 1 1 KLKB1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Cadasil inherited thrombocytopenia 1 1 NOTCH3 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Cold paroxysmal hemoglobinuria Intellectual developmental disorder seizures dysmorphic skeletal 1 1 PIGT (2) 0.14286 1.00000 3.897e-4 8.637e-4 Hemoglobinuria paroxysmal Intellectual developmental disorder seizures dysmorphic skeletal 1 1 PIGT (3) 0.14286 1.00000 3.897e-4 8.637e-4 Intellectual developmental disorder seizures dysmorphic skeletal Paroxysmal nocturnal hemoglobinuria 1 1 PIGT (4) 0.14286 1.00000 3.897e-4 8.637e-4 intellectual disability, autosomal recessive 61 Stuve-wiedemann syndrome 1 1 RUSC2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 146 interstitial lung disease due to ABCA3 deficiency Pulmonary surfactant metabolism dysfunction 1 1 ABCA3 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Intestinal polyps Urinary bladder neck obstruction 1 0 PTGS2 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Brain tumor-polyposis syndrome Intestinal polyps 1 1 APC (2) 0.14286 1.00000 3.897e-4 8.637e-4 37 Familial adenomatous polyposis Intestinal polyps 1 1 APC (3) 0.14286 1.00000 3.897e-4 8.637e-4 37 gastric adenocarcinoma and proximal polyposis of the stomach Intestinal polyps 1 1 APC (2) 0.14286 1.00000 3.897e-4 8.637e-4 37 IRF6-related condition Van der woude syndrome 1 1 IRF6 (8) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital cystic eyeball isolated microphthalmia 6 1 1 PRSS56 (2) 0.14286 1.00000 3.897e-4 8.637e-4 52 Isolated somatotropin deficiency Pituitary neoplasms 1 1 GH1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 joubert syndrome 1 Penile disease 1 1 INPP5E (2) 0.14286 1.00000 3.897e-4 8.637e-4 joubert syndrome 17 Monomelic amyotrophy 1 1 CPLANE1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Laryngo-onycho-cutaneous syndrome Skin ulcer 1 1 LAMA3 (5) 0.14286 1.00000 3.897e-4 8.637e-4 142 Cafe-au-lait spots legius syndrome 1 1 SPRED1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 71 Lobular carcinoma Sebastian syndrome 1 1 MYH9 (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 Eyelid disease lymphedema-distichiasis syndrome 1 1 FOXC2 (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 167 Cafe-au-lait spots LZTR1-related schwannomatosis 1 1 LZTR1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital malformation syndromes associated with short stature LZTR1-related schwannomatosis 1 1 LZTR1 (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 407 46,xx ovotesticular disorder of sex development MCM9-related gametogenic failure 1 1 MCM9 (2) 0.14286 1.00000 3.897e-4 8.637e-4 183 microcephaly with lissencephaly and/or hydranencephaly Visceral neuropathy 1 1 NDE1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Microhydranencephaly Visceral neuropathy 1 1 NDE1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Hydrophthalmos Microspherophakia 1 1 LTBP2 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Aortic arch syndrome Middle ear cholesteatoma 1 0 IL2 (1) 0.14286 1.00000 3.897e-4 8.637e-4 mitochondrial trifunctional protein deficiency Rickets 1 1 HADHB (2) 0.14286 1.00000 3.897e-4 8.637e-4 Monomelic amyotrophy Neuralgic amyotrophy 1 1 SEPTIN9 (4) 0.14286 1.00000 3.897e-4 8.637e-4 MORM syndrome Penile disease 1 1 INPP5E (2) 0.14286 1.00000 3.897e-4 8.637e-4 Mucoepidermoid carcinoma Tumor predisposition syndrome 1 1 BAP1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 368 Cold paroxysmal hemoglobinuria multiple congenital anomalies-hypotonia-seizures syndrome 3 1 1 PIGT (2) 0.14286 1.00000 3.897e-4 8.637e-4 Hemoglobinuria paroxysmal multiple congenital anomalies-hypotonia-seizures syndrome 3 1 1 PIGT (3) 0.14286 1.00000 3.897e-4 8.637e-4 multiple congenital anomalies-hypotonia-seizures syndrome 3 Paroxysmal nocturnal hemoglobinuria 1 1 PIGT (4) 0.14286 1.00000 3.897e-4 8.637e-4 multiple endocrine neoplasia type 4 Pituitary neoplasms 1 1 CDKN1B (2) 0.14286 1.00000 3.897e-4 8.637e-4 118 GRHL3-related orofacial clefting Van der woude syndrome 1 1 GRHL3 (7) 0.14286 1.00000 3.897e-4 8.637e-4 Growth retardation, mild developmental delay, chronic hepatitis syndrome Thrombocythemia 1 1 SH2B3 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Growth retardation, mild developmental delay, chronic hepatitis syndrome Thrombocytosis 1 1 SH2B3 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Heme oxygenase deficiency Hemolysis 1 1 HMOX1 (7) 0.14286 1.00000 3.897e-4 8.637e-4 194 Heme oxygenase deficiency Pancreatic diseases 1 1 HMOX1 (7) 0.14286 1.00000 3.897e-4 8.637e-4 194 hemochromatosis type 4 Hemolysis 1 1 SLC40A1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Hemolysis X-linked distal spinal muscular atrophy 1 1 ATP7A (5) 0.14286 1.00000 3.897e-4 8.637e-4 Hemolysis menkes disease 1 1 ATP7A (2) 0.14286 1.00000 3.897e-4 8.637e-4 Hereditary diffuse gastric and lobular breast cancer syndrome Lobular carcinoma 1 1 CDH1 (4) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 Exanthema hereditary von Willebrand disease 1 1 VWF (2) 0.14286 1.00000 3.897e-4 8.637e-4 Bockenheimer syndrome Hydrophthalmos 1 0 TEK (1) 0.14286 1.00000 3.897e-4 8.637e-4 Hydrophthalmos Mucocutaneous venous malformations 1 1 TEK (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 167 Breast implant-associated anaplastic large cell lymphoma Hyper-ige syndrome 1 0 STAT3 (1) 0.14286 1.00000 3.897e-4 8.637e-4 167 Hypereosinophilic syndrome Myeloproliferative disease, unclassifiable 1 1 PDGFRB (2) 0.14286 1.00000 3.897e-4 8.637e-4 Hypereosinophilic syndrome thrombocytopenia 5 1 1 ETV6 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Hypereosinophilic syndrome Osteoglophonic dwarfism 1 1 FGFR1 (4) 0.14286 1.00000 3.897e-4 8.637e-4 139 Hypereosinophilic syndrome Osteoglophonic dysplasia 1 1 FGFR1 (6) 0.14286 1.00000 3.897e-4 8.637e-4 139 Congenital hyperinsulinism hyperinsulinemic hypoglycemia, familial, 1 1 1 ABCC8 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hyperinsulinism hyperinsulinemic hypoglycemia, familial, 2 1 1 KCNJ11 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hyperinsulinism hyperinsulinism due to glucokinase deficiency 1 1 GCK (3) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital hyperinsulinism Hyperinsulinism-hyperammonemia syndrome 1 1 GLUD1 (5) 0.14286 1.00000 3.897e-4 8.637e-4 35 Eye pain Hypocalcemia 1 1 POMC (2) 0.14286 1.00000 3.897e-4 8.637e-4 101 Hypocalcemia Rhabdomyoma 1 1 POMC (2) 0.14286 1.00000 3.897e-4 8.637e-4 101 hypomyelinating leukodystrophy 2 Pelizaeus-merzbacher disease 1 1 GJC2 (3) 0.14286 1.00000 3.897e-4 8.637e-4 434 hypomyelinating leukodystrophy 3 Pelizaeus-merzbacher disease 1 1 AIMP1 (3) 0.14286 1.00000 3.897e-4 8.637e-4 434 hypoplasminogenemia Laryngeal disease 1 1 PLG (2) 0.14286 1.00000 3.897e-4 8.637e-4 246 Other epidermolysis bullosa PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 1 1 PLEC (2) 0.14286 1.00000 3.897e-4 8.637e-4 229 Other specified diabetes mellitus with unspecified complications Wolfram syndrome 1 1 WFS1 (7) 0.14286 1.00000 3.897e-4 8.637e-4 Bilateral multicystic dysplastic kidney Ovarian mucinous adenocarcinoma 1 1 HNF1B (2) 0.14286 1.00000 3.897e-4 8.637e-4 145 Ovarian mucinous adenocarcinoma Renal dysplasia 1 1 HNF1B (2) 0.14286 1.00000 3.897e-4 8.637e-4 145 Giant cell tumor of tendon sheath Ovarian mucinous adenocarcinoma 1 1 HNF1B (2) 0.14286 1.00000 3.897e-4 8.637e-4 145 Multicystic dysplastic kidney Ovarian mucinous adenocarcinoma 1 1 HNF1B (3) 0.14286 1.00000 3.897e-4 8.637e-4 145 Eye pain Pancreatic diseases 1 0 POMC (1) 0.14286 1.00000 3.897e-4 8.637e-4 Pancreatic diseases Rhabdomyoma 1 0 POMC (1) 0.14286 1.00000 3.897e-4 8.637e-4 Pancreatic diseases Sacroiliitis 1 1 POMC (2) 0.14286 1.00000 3.897e-4 8.637e-4 Diabetes microvascular complications Paraneoplastic syndrome 1 1 EPO (2) 0.14286 1.00000 3.897e-4 8.637e-4 163 Alpha thalassemia x-linked intellectual disability Penile disease 1 1 ATRX (2) 0.14286 1.00000 3.897e-4 8.637e-4 117 Atr-x syndrome Penile disease 1 1 ATRX (3) 0.14286 1.00000 3.897e-4 8.637e-4 117 Penile disease X-linked alpha-thalassemia-intellectual disability syndrome 1 1 ATRX (2) 0.14286 1.00000 3.897e-4 8.637e-4 117 Eye pain Penile disease 1 0 POMC (1) 0.14286 1.00000 3.897e-4 8.637e-4 Peptic esophagitis Rickets 1 1 VDR (2) 0.14286 1.00000 3.897e-4 8.637e-4 342 Embryonal nuclear cataract Periodic paralysis with transient compartment-like syndrome 1 1 CACNA1S (2) 0.14286 1.00000 3.897e-4 8.637e-4 Intestinal polyps platelet-type bleeding disorder 12 1 1 PTGS1 (2) 0.14286 1.00000 3.897e-4 8.637e-4 Cardiac valvular dysplasia PLD1-related congenital heart disease 1 1 PLD1 (5) 0.14286 1.00000 3.897e-4 8.637e-4 42 Popliteal pterygium syndrome Van der woude syndrome 1 1 IRF6 (7) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital insensitivity to pain Primary erythromelalgia 1 1 SCN9A (3) 0.14286 1.00000 3.897e-4 8.637e-4 171 Prolidase deficiency Skin ulcer 1 1 PEPD (3) 0.14286 1.00000 3.897e-4 8.637e-4 142 Pulmonary surfactant metabolism dysfunction Respiratory distress with surfactant metabolism deficiency 1 1 SFTPC (7) 0.14286 1.00000 3.897e-4 8.637e-4 Pulmonary surfactant metabolism dysfunction SFTPC-related interstitial lung disease 1 1 SFTPC (6) 0.14286 1.00000 3.897e-4 8.637e-4 RDH5-related retinopathy Retinitis punctata albescens 1 1 RDH5 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retrognathism regressive spondylometaphyseal dysplasia 1 1 LBR (2) 0.14286 1.00000 3.897e-4 8.637e-4 281 PRPH2-related retinopathy Retinitis punctata albescens 1 1 PRPH2 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Retinoblastoma Woolly hair 1 1 RB1 (5) 0.14286 1.00000 3.897e-4 8.637e-4 Congenital retrognathism Reynolds syndrome 1 1 LBR (5) 0.14286 1.00000 3.897e-4 8.637e-4 281 Congenital retrognathism Rhizomelic skeletal dysplasia with or without pelger-huet anomaly 1 1 LBR (2) 0.14286 1.00000 3.897e-4 8.637e-4 281 Retinitis punctata albescens RHO-related retinopathy 1 1 RHO (3) 0.14286 1.00000 3.897e-4 8.637e-4 Right bundle branch block Right ventricular hypertrophy 1 0 BMPR2 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Right cardiac ventricular dilatation Right ventricular hypertrophy 1 0 BMPR2 (1) 0.14286 1.00000 3.897e-4 8.637e-4 Palmoplantar keratoderma with congenital alopecia Right ventricular hypertrophy 1 1 GJA1 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Retinitis punctata albescens RLBP1-related retinopathy 1 1 RLBP1 (4) 0.14286 1.00000 3.897e-4 8.637e-4 Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction Visceral neuropathy 1 1 RRM2B (4) 0.14286 1.00000 3.897e-4 8.637e-4 Benign infantile epilepsy self-limited familial neonatal epilepsy 1 1 KCNQ3 (2) 0.14286 1.00000 3.897e-4 8.637e-4 213 SH2B3-related immune system disorder Thrombocythemia 1 1 SH2B3 (4) 0.14286 1.00000 3.897e-4 8.637e-4 SH2B3-related immune system disorder Thrombocytosis 1 1 SH2B3 (3) 0.14286 1.00000 3.897e-4 8.637e-4 Silverman-Handmaker type dyssegmental dysplasia Stuve-wiedemann syndrome 1 1 HSPG2 (2) 0.14286 1.00000 3.897e-4 8.637e-4 146 Intestinal polyps Sleep deprivation 1 0 PTGS1 (1) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 spermatogenic failure 18 Tumor predisposition syndrome 1 1 DNAH1 (2) 0.14286 1.00000 3.897e-4 8.637e-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 8.637e-4 167 Internet addiction disorder Pheochromocytoma 2 2 COMT (2), MAOB (2) 0.04651 0.12500 3.767e-4 8.637e-4 Developmental disorder Diverticulitis 2 0 TMC1 (1), ZFAND5 (1) 0.04651 0.12500 3.767e-4 8.637e-4 Esophageal disease Rotator cuff tear 2 0 SASH1 (1), SLC39A8 (1) 0.04545 0.13333 3.793e-4 8.637e-4 Lymphatic malformation Primary microcephaly 2 2 MCPH1 (3), ANGPT2 (4) 0.04255 0.15385 3.854e-4 8.637e-4 Congenital diaphragmatic hernia Syndactyly 2 0 GLI3 (1), FREM2 (1) 0.04878 0.10000 3.645e-4 8.607e-4 Bell's palsy Facial nerve disorder 2 0 CDC5L (1), SUPT3H (1) 0.03175 0.25000 3.587e-4 8.470e-4 Clonal hematopoiesis Ileocolitis 2 0 LY75 (1), LY75-CD302 (1) 0.03175 0.25000 3.587e-4 8.470e-4 Pharyngeal disorder Rosacea 2 0 IKZF1 (1), SPMIP7 (1) 0.04545 0.14286 3.516e-4 8.305e-4 Hyperaldosteronism Sick sinus syndrome 2 2 CACNA1D (2), KCNJ5 (6) 0.04878 0.11111 3.508e-4 8.288e-4 Hyperaldosteronism Potassium deficiency 2 0 B3GLCT (1), RXFP2 (1) 0.04878 0.11111 3.508e-4 8.288e-4 Brain cancer Small cell lung carcinoma 2 0 FCHO2 (1), FOXN3 (1) 0.02105 0.40000 3.415e-4 8.068e-4 Osteonecrosis Sarcopenia 2 0 PTPRD (1), DMAC1 (1) 0.04082 0.18182 3.389e-4 8.008e-4 Benign prostatic hyperplasia Testicular carcinoma 3 0 HNF1B (1), TERT (1), CLPTM1L (1) 0.03226 0.08571 3.369e-4 7.962e-4 Epidermolysis bullosa Fraser syndrome 2 1 FREM2 (6), BCLAF1 (1) 0.05000 0.10000 3.316e-4 7.839e-4 Brachydactyly Cryptorchidism 2 1 HOXD13 (6), NIPBL (1) 0.05000 0.10000 3.316e-4 7.839e-4 111 Hereditary parkinson disease Secondary parkinson disease 2 2 PRKN (2), SNCA (4) 0.04762 0.13333 3.300e-4 7.801e-4 Multinodular goiter Urinary system disease 2 0 BCAS3 (1), MACROD2 (1) 0.04762 0.13333 3.300e-4 7.801e-4 Developmental dysplasia of the hip Multiple system atrophy 2 0 LOXL4 (1), PYROXD2 (1) 0.04651 0.14286 3.291e-4 7.782e-4 Appendicitis Testicular disease 2 1 PPP3CA (3), INHBB (1) 0.04651 0.14286 3.291e-4 7.782e-4 16q24.3 microdeletion syndrome Conductive hearing loss 1 1 ANKRD11 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Abcd syndrome Kleins syndrome 1 1 EDNRB (2) 0.16667 1.00000 3.247e-4 7.680e-4 Acces syndrome Aplasia cutis congenita 1 1 UBA2 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Acral self-healing collodion baby Vitamin a deficiency 1 1 TGM1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Acromegaloid facial appearance syndrome Kleefstra syndrome 1 1 ABCC9 (2) 0.16667 1.00000 3.247e-4 7.680e-4 234 Aland island eye disease Ocular albinism 1 0 CACNA1F (1) 0.16667 1.00000 3.247e-4 7.680e-4 384 Alcoholic hepatitis Refractory anemia 1 1 TNF (2) 0.16667 1.00000 3.247e-4 7.680e-4 Alcoholic hepatitis Autoimmune uveitis 1 1 CXCL8 (2) 0.16667 1.00000 3.247e-4 7.680e-4 43 Alcoholic hepatitis X-linked ichthyosis with steryl-sulfatase deficiency 1 1 STS (2) 0.16667 1.00000 3.247e-4 7.680e-4 43 Alkuraya-kucinskas syndrome Congenital hemivertebra 1 1 BLTP1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 alkylglycerone-phosphate synthase deficiency Rhizomelic chondrodysplasia punctata 1 1 AGPS (7) 0.16667 1.00000 3.247e-4 7.680e-4 305 Alpha-actinopathy Congenital nemaline myopathy 1 1 ACTA1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 162 11p partial monosomy syndrome Ambiguous genitalia 1 1 WT1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 86 Ambiguous genitalia Denys drash syndrome 1 1 WT1 (6) 0.16667 1.00000 3.247e-4 7.680e-4 86 Ambiguous genitalia Drash syndrome 1 1 WT1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 86 Ambiguous genitalia wilms tumor 1 1 1 WT1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 86 Ambiguous genitalia Congenital idiopathic intestinal pseudoobstruction 1 1 FLNA (2) 0.16667 1.00000 3.247e-4 7.680e-4 anemia, nonspherocytic hemolytic, due to G6PD deficiency Glucose-6-phosphate dehydrogenase deficiency 1 1 G6PD (4) 0.16667 1.00000 3.247e-4 7.680e-4 12 Aneuploidy microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 1 KIF11 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Angiofollicular ganglionic hyperplasia Glucose-6-phosphate dehydrogenase deficiency 1 0 IL6 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Angiolymphoid hyperplasia Glucose-6-phosphate dehydrogenase deficiency 1 0 IL6 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Anhidrotic ectodermal dysplasia Christ-siemens-touraine syndrome 1 0 EDA (1) 0.16667 1.00000 3.247e-4 7.680e-4 76 Anomalous pulmonary venous Congenital hip dysplasia 1 0 PSMC3 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Anterior cruciate ligament injury Immune system disorder 1 1 CNR2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 101 Aortic rupture Congenital pectus carinatum 1 1 FBN1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Aortic rupture Coronary artery dissection 1 1 FBN1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Aplasia cutis congenita Chromosome 19q13.11 deletion syndrome 1 1 UBA2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Aplasia cutis congenita Epidermolysa bullosa simplex and limb girdle muscular dystrophy 1 1 PLEC (4) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 229 Arachnodactyly Congenital pectus carinatum 1 1 FBN1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Arachnodactyly Coronary artery dissection 1 1 FBN1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Arachnodactyly Congenital hernia of foramen of bochdalek 1 0 EFEMP1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Arachnodactyly Simpson syndrome 1 1 KAT6B (2) 0.16667 1.00000 3.247e-4 7.680e-4 Arachnodactyly KAT6B-related multiple congenital anomalies syndrome 1 1 KAT6B (2) 0.16667 1.00000 3.247e-4 7.680e-4 Arginase deficiency Immune system disorder 1 1 ARG1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 101 Arhinia-choanal atresia-microphthalmia syndrome Facioscapulohumeral muscular dystrophy 1 1 SMCHD1 (6) 0.16667 1.00000 3.247e-4 7.680e-4 324 arterial calcification, generalized, of infancy, 1 Pseudoxanthoma elasticum 1 1 ENPP1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 207 arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia 1 1 SYNE1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Ataxia with oculomotor apraxia Ataxia with oculomotor apraxia and hypoalbuminemia 1 1 APTX (6) 0.16667 1.00000 3.247e-4 7.680e-4 Ataxia with oculomotor apraxia microcephaly, seizures, and developmental delay 1 1 PNKP (7) 0.16667 1.00000 3.247e-4 7.680e-4 Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect Hereditary ataxia 1 0 SACS (1) 0.16667 1.00000 3.247e-4 7.680e-4 Ateleiotic dwarfism Growth hormone-secreting pituitary adenoma 1 1 GH1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 atransferrinemia Hypochromic microcytic anemia 1 1 TF (3) 0.16667 1.00000 3.247e-4 7.680e-4 245 Atypical multiple mole melanoma syndrome Li-fraumeni syndrome 1 1 CDKN2A (3) 0.16667 1.00000 3.247e-4 7.680e-4 45 Autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 1 1 CTLA4 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Autoimmune hemolytic anemia Autoinflammatory syndrome with immunodeficiency 1 1 SOCS1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 330 Autoimmune hemolytic anemia Autoinflammatory syndrome, familial, with or without immunodeficiency 1 1 SOCS1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 330 Autoimmune hemolytic anemia Autoimmunity-autoinflammation-immunodeficiency syndrome 1 1 SOCS1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 330 Autoimmune hemolytic anemia Cutis marmorata 1 1 TPP2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Benign concentric annular macular dystrophy Vitelliform macular dystrophy 1 1 IMPG1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 310 Benign mesial temporal lobe epilepsy Periventricular heterotopia 1 1 CPA6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 255 Benign paroxysmal torticollis of infancy Hemiplegic migraine 1 1 CACNA1A (3) 0.16667 1.00000 3.247e-4 7.680e-4 Bernard-soulier syndrome hereditary von Willebrand disease 1 1 VWF (2) 0.16667 1.00000 3.247e-4 7.680e-4 Bernard-soulier syndrome platelet-type von Willebrand disease 1 1 GP1BA (8) 0.16667 1.00000 3.247e-4 7.680e-4 Bernard-soulier syndrome platelet-type bleeding disorder 18 1 1 RASGRP2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Beta-ketothiolase deficiency Carbohydrate metabolism disorder 1 1 ACAT1 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Beta-propeller protein-associated neurodegeneration Hemiplegic migraine 1 1 WDR45 (2) 0.16667 1.00000 3.247e-4 7.680e-4 412 Beukes hip dysplasia Congenital hip dysplasia 1 1 UFSP2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 15 Bifid nail Coach syndrome 1 0 OFD1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Bifid nail Simpson-golabi-behmel syndrome 1 1 OFD1 (5) 0.16667 1.00000 3.247e-4 7.680e-4 CDKL5 disorder Retinoschisis 1 1 CDKL5 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Central areolar choroidal dystrophy PRPH2-related retinopathy 1 1 PRPH2 (4) 0.16667 1.00000 3.247e-4 7.680e-4 69 Central areolar choroidal dystrophy GUCY2D-related dominant retinopathy 1 1 GUCY2D (3) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 85 Cerebelloparenchymal disorder Ptosis 1 1 PMPCA (2) 0.16667 1.00000 3.247e-4 7.680e-4 158 Cerebral saccular aneurysm Connective and soft tissue disorder 1 1 COL3A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 350 Cerebral saccular aneurysm Vascular ehlers-danlos syndrome 1 1 COL3A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 350 Cerebral saccular aneurysm ehlers-danlos syndrome, vascular type 1 1 COL3A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 350 Charcot-Marie-Tooth disease type 1A Paresthesia 1 1 PMP22 (3) 0.16667 1.00000 3.247e-4 7.680e-4 382 CHEK2-related cancer predisposition Li-fraumeni syndrome 1 1 CHEK2 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Chilblain lupus erythematosus Type i interferonopathy 1 1 TREX1 (7) 0.16667 1.00000 3.247e-4 7.680e-4 159 Childhood myocerebrohepatopathy spectrum Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 1 POLG (6) 0.16667 1.00000 3.247e-4 7.680e-4 Cholestasis-pigmentary retinopathy-cleft palate syndrome Simpson-golabi-behmel syndrome 1 1 MED12 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Cholesteatoma Middle ear cholesteatoma 1 0 IL2 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Anaplastic oligoastrocytoma Chordoma 1 1 IDH2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 200 Chordoma Gemistocytic astrocytoma 1 1 IDH2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 200 Chordoma Metaphyseal enchondromatosis 1 1 IDH1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Chordoma fanconi anemia complementation group n 1 1 PALB2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Choroid diseases Glucose-6-phosphate dehydrogenase deficiency 1 0 IL10 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Choroid diseases Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome 1 1 IL10 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Choroideremia PRPH2-related retinopathy 1 1 PRPH2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 69 Choroideremia PRPF8-related retinopathy 1 1 PRPF8 (2) 0.16667 1.00000 3.247e-4 7.680e-4 69 Choroideremia TOPORS-related retinopathy 1 1 TOPORS (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 76 Christ-siemens-touraine syndrome familial acute necrotizing encephalopathy 1 1 RANBP2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Chromodomain helicase dna binding protein 8 overgrowth syndrome Congenital ptosis 1 0 CHD8 (1) 0.16667 1.00000 3.247e-4 7.680e-4 280 Chromosome 17p13.3 microdeletion syndrome Endometrial stromal sarcoma 1 1 YWHAE (2) 0.16667 1.00000 3.247e-4 7.680e-4 225 Chromosome 17p13.3 microdeletion syndrome Miller-dieker syndrome 1 1 YWHAE (2) 0.16667 1.00000 3.247e-4 7.680e-4 225 Chromosome 22q11.2 microduplication syndrome Velocardiofacial syndrome 1 1 TBX1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 290 Chromosome xq26.3 duplication syndrome Growth hormone-secreting pituitary adenoma 1 1 GPR101 (3) 0.16667 1.00000 3.247e-4 7.680e-4 235 Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Congenital diarrhea 1 1 GUCY2C (4) 0.16667 1.00000 3.247e-4 7.680e-4 275 Arachnodactyly Ck syndrome 1 1 NSDHL (7) 0.16667 1.00000 3.247e-4 7.680e-4 398 Coach syndrome Rhyns syndrome 1 1 TMEM67 (6) 0.16667 1.00000 3.247e-4 7.680e-4 315 Coach syndrome joubert syndrome 1 1 1 INPP5E (2) 0.16667 1.00000 3.247e-4 7.680e-4 Coach syndrome MORM syndrome 1 1 INPP5E (2) 0.16667 1.00000 3.247e-4 7.680e-4 Coach syndrome OFD1-related ciliopathy 1 1 OFD1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital factor v deficiency Diabetes macrovascular complications 1 1 F5 (4) 0.16667 1.00000 3.247e-4 7.680e-4 84 Diabetes macrovascular complications East texas bleeding disorder 1 1 F5 (3) 0.16667 1.00000 3.247e-4 7.680e-4 84 Diabetes macrovascular complications thrombophilia due to activated protein c resistance 1 1 F5 (2) 0.16667 1.00000 3.247e-4 7.680e-4 84 Diabetes macrovascular complications Male infertility motility disorder 1 1 CCDC146 (2) 0.16667 1.00000 3.247e-4 7.680e-4 84 Diabetic foot Nonobstructive azoospermia 1 1 SLC26A8 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Clapo syndrome Diaphragmatic malformations 1 1 PIK3CA (3) 0.16667 1.00000 3.247e-4 7.680e-4 53 Cloves syndrome Diaphragmatic malformations 1 1 PIK3CA (3) 0.16667 1.00000 3.247e-4 7.680e-4 53 Congenital intestinal duplication Diaphragmatic malformations 1 0 PIK3CA (1) 0.16667 1.00000 3.247e-4 7.680e-4 53 Congenital macrodactylia Diaphragmatic malformations 1 1 PIK3CA (2) 0.16667 1.00000 3.247e-4 7.680e-4 53 Congenital malformation syndromes involving early overgrowth Diaphragmatic malformations 1 0 PIK3CA (1) 0.16667 1.00000 3.247e-4 7.680e-4 53 dilated cardiomyopathy 1O Kleefstra syndrome 1 1 ABCC9 (2) 0.16667 1.00000 3.247e-4 7.680e-4 234 Disseminated superficial actinic porokeratosis Hyper-igd syndrome 1 1 MVK (2) 0.16667 1.00000 3.247e-4 7.680e-4 Distal axonal motor neuropathy-myofibrillar myopathy syndrome Vacuolar myopathy 1 1 HSPB8 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital nemaline myopathy Distal nebulin myopathy 1 1 NEB (3) 0.16667 1.00000 3.247e-4 7.680e-4 Dubin-johnson syndrome Pseudoxanthoma elasticum 1 1 ABCC2 (5) 0.16667 1.00000 3.247e-4 7.680e-4 207 Commissural facial cleft Duplication of pituitary gland 1 1 PTCH2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 25 dyskeratosis congenita, autosomal dominant 2 Respiratory system cancer 1 1 TERT (2) 0.16667 1.00000 3.247e-4 7.680e-4 dyskeratosis congenita, autosomal recessive 3 Li-fraumeni syndrome 1 1 WRAP53 (2) 0.16667 1.00000 3.247e-4 7.680e-4 dyskeratosis congenita, autosomal recessive 3 Telomere syndrome 1 1 WRAP53 (2) 0.16667 1.00000 3.247e-4 7.680e-4 77 East syndrome Littles disease 1 1 KCNJ10 (4) 0.16667 1.00000 3.247e-4 7.680e-4 East syndrome Paroxysmal dyskinesia 1 1 KCNJ10 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital mitral valve atresia Malt lymphoma 1 1 FOXP1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 267 Congenital muscular hypertrophy-cerebral syndrome Wiedemann-steiner syndrome 1 1 SMC1A (2) 0.16667 1.00000 3.247e-4 7.680e-4 301 congenital myasthenic syndrome 9 Ptosis 1 1 MUSK (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital nemaline myopathy Zebra body myopathy 1 1 ACTA1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 162 Congenital nemaline myopathy nemaline myopathy 10 1 1 LMOD3 (3) 0.16667 1.00000 3.247e-4 7.680e-4 162 Congenital nemaline myopathy Nebulin-related myopathy 1 1 NEB (5) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 3 1 1 EIF2B3 (3) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 174 Congenital retinal aneurysm Retinoschisis 1 1 RS1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital retinal anomaly Retinoschisis 1 1 RS1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital small ears Emery dreifuss muscular dystrophy 1 1 LMNA (3) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital small ears Severe lipodystrophic laminopathy 1 1 LMNA (3) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital small ears Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1 1 LMNA (3) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital stenosis of aortic valve hypercholesterolemia, autosomal dominant, type B 1 1 APOB (2) 0.16667 1.00000 3.247e-4 7.680e-4 201 Congenital stenosis of aortic valve Peptic esophagitis 1 0 VDR (1) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital stenosis of aortic valve cutis laxa, autosomal dominant 1 1 1 ELN (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital-onset steinert myotonic dystrophy Myotonic dystrophy 1 1 DMPK (5) 0.16667 1.00000 3.247e-4 7.680e-4 166 Conotruncal anomaly face syndrome Velocardiofacial syndrome 1 1 TBX1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 290 Constipation Eye pain 1 0 POMC (1) 0.16667 1.00000 3.247e-4 7.680e-4 101 Constipation Rhabdomyoma 1 0 POMC (1) 0.16667 1.00000 3.247e-4 7.680e-4 101 Constipation Sacroiliitis 1 1 POMC (2) 0.16667 1.00000 3.247e-4 7.680e-4 101 Contractures, pterygia, and spondylocarpotarsal fusion syndrome Sheldon-hall syndrome 1 1 MYH3 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Contractures, pterygia, and variable skeletal fusions syndrome Sheldon-hall syndrome 1 1 MYH3 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Coronary medial sclerosis of infancy Pseudoxanthoma elasticum 1 0 ENPP1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 207 Corpus callosum agenesis with abnormal genitalia Periventricular heterotopia 1 1 ARX (5) 0.16667 1.00000 3.247e-4 7.680e-4 255 Craniocerebral trauma Intracranial thrombosis 1 1 SERPINC1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Craniofacial anomalies with anterior segment dysgenesis Polymorphous corneal dystrophy 1 1 VSX1 (5) 0.16667 1.00000 3.247e-4 7.680e-4 87 Craniofacial anomalies with anterior segment dysgenesis Posterior polymorphous corneal dystrophy 1 1 VSX1 (6) 0.16667 1.00000 3.247e-4 7.680e-4 87 Craniofacial deafness hand syndrome Kleins syndrome 1 1 PAX3 (6) 0.16667 1.00000 3.247e-4 7.680e-4 186 craniofacial dysplasia - osteopenia syndrome Hypochromic microcytic anemia 1 1 IRX5 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 3 1 1 EIF2B3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 174 Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 1 1 1 EIF2B1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 174 Cria syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome 1 0 RIPK1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 264 Ambiguous genitalia Cryptophthalmia 1 1 FREM2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Ambiguous genitalia Cryptotria 1 0 FREM2 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Cooleys anemia Cyanosis 1 1 HBB (2) 0.16667 1.00000 3.247e-4 7.680e-4 18 Cyanosis Dominant beta-thalassemia 1 1 HBB (3) 0.16667 1.00000 3.247e-4 7.680e-4 18 Cystic kidney disease with ventriculomegaly Nephrotic syndrome, focal segmental type 1 1 CRB2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Cyanosis Cytochrome-b5 reductase deficiency 1 1 CYB5R3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital hip dysplasia Deafness with cataract, intellectual disability, and polyneuropathy 1 1 PSMC3 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Deafness with congenital inner ear agenesis, microtia, and microdontia Oculopalatosekeletal syndrome 1 1 FGF3 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Deafness with labyrinthine aplasia, microtia, and microdontia Oculopalatosekeletal syndrome 1 1 FGF3 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Delta zero thalassemia Hemoglobin e disease 1 1 HBD (2) 0.16667 1.00000 3.247e-4 7.680e-4 Delta-thalassemia Hemoglobin e disease 1 1 HBD (2) 0.16667 1.00000 3.247e-4 7.680e-4 Dermatofibrosis lenticularis disseminata Tietz syndrome 1 1 LEMD3 (3) 0.16667 1.00000 3.247e-4 7.680e-4 143 Bilateral microphthalmos Palmoplantar keratoderma with congenital alopecia 1 1 GJA1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 107 Bilateral microphthalmos progressive retinal dystrophy due to retinol transport defect 1 1 RBP4 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Bilateral microtia with deafness and cleft palate syndrome Congenital small ears 1 1 HOXA2 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Birdshot chorioretinopathy Carbamazepine hypersensitivity 1 1 HLA-B (2) 0.16667 1.00000 3.247e-4 7.680e-4 179 Birdshot chorioretinopathy Thrombophlebitis 1 0 HLA-B (1) 0.16667 1.00000 3.247e-4 7.680e-4 179 Birdshot chorioretinopathy Paraparesis 1 1 TECPR2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 179 Blau syndrome Bronchiolitis obliterans 1 1 NOD2 (7) 0.16667 1.00000 3.247e-4 7.680e-4 401 bleeding disorder, platelet-type, 21 Skeletal ewing sarcoma 1 1 FLI1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Bmp4-related ocular growth disorder Vitamin a deficiency 1 1 BMP4 (4) 0.16667 1.00000 3.247e-4 7.680e-4 27 Bosma arhinia microphthalmia syndrome Facioscapulohumeral muscular dystrophy 1 1 SMCHD1 (5) 0.16667 1.00000 3.247e-4 7.680e-4 324 Brain small vessel disease Familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 COL4A1 (5) 0.16667 1.00000 3.247e-4 7.680e-4 33 Brain-lung-thyroid syndrome Hereditary ataxia 1 1 NKX2-1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Branchial arch abnormalities syndrome Choanal atresia syndrome 1 1 KMT2D (5) 0.16667 1.00000 3.247e-4 7.680e-4 95 Branchial arch abnormalities syndrome Congenital small ears 1 1 KMT2D (3) 0.16667 1.00000 3.247e-4 7.680e-4 95 Branchial cleft anomalies Choanal atresia syndrome 1 1 KMT2D (4) 0.16667 1.00000 3.247e-4 7.680e-4 95 Branchial cleft anomalies Congenital small ears 1 0 KMT2D (1) 0.16667 1.00000 3.247e-4 7.680e-4 95 BRCA1-related cancer predisposition Hereditary breast-ovarian cancer syndrome 1 1 BRCA1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 BRCA2-related cancer predisposition Hereditary breast-ovarian cancer syndrome 1 1 BRCA2 (4) 0.16667 1.00000 3.247e-4 7.680e-4 BRCA2-related cancer predisposition Bronchus cancer 1 1 BRCA2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 BRCA2-related cancer predisposition Chordoma 1 1 BRCA2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 BRCA2-related cancer predisposition Respiratory system cancer 1 1 BRCA2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Bronchiolitis obliterans Granulomatous inflammatory arthritis-dermatitis-uveitis, familial 1 0 NOD2 (1) 0.16667 1.00000 3.247e-4 7.680e-4 401 Bronchiolitis obliterans Yao syndrome 1 1 NOD2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 401 Bronchiolitis obliterans Urinary retention 1 1 EDN1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Bronchus cancer dyskeratosis congenita, autosomal dominant 2 1 1 TERT (2) 0.16667 1.00000 3.247e-4 7.680e-4 Bronchus cancer fanconi anemia complementation group d1 1 1 BRCA2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Buschke-ollendorff syndrome Tietz syndrome 1 1 LEMD3 (4) 0.16667 1.00000 3.247e-4 7.680e-4 143 Butterfly-shaped pigmentary macular dystrophy PRPH2-related retinopathy 1 1 PRPH2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Butterfly-shaped pigmentary macular dystrophy Diffuse gastric and lobular breast cancer syndrome 1 1 CTNNA1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Butterfly-shaped pigmentary macular dystrophy Carasil syndrome 1 1 HTRA1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 CACNA1F-related retinopathy Ocular albinism 1 1 CACNA1F (2) 0.16667 1.00000 3.247e-4 7.680e-4 384 CACNA2D4-related retinopathy Retinal cone dystrophy 1 1 CACNA2D4 (6) 0.16667 1.00000 3.247e-4 7.680e-4 69 Carbohydrate metabolism disorder Triose phosphate isomerase deficiency 1 1 TPI1 (6) 0.16667 1.00000 3.247e-4 7.680e-4 371 Carbohydrate metabolism disorder MPI-congenital disorder of glycosylation 1 1 MPI (2) 0.16667 1.00000 3.247e-4 7.680e-4 371 Carbohydrate metabolism disorder Transaldolase deficiency 1 1 TALDO1 (6) 0.16667 1.00000 3.247e-4 7.680e-4 371 Castleman disease Glucose-6-phosphate dehydrogenase deficiency 1 1 IL6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Cohen-gibson syndrome Weaver syndrome 1 1 EED (7) 0.16667 1.00000 3.247e-4 7.680e-4 53 Colchicine resistance Hematologic neoplasms 1 1 ABCB1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 120 Cole disease Pseudoxanthoma elasticum 1 1 ENPP1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 207 combined immunodeficiency due to MALT1 deficiency Malt lymphoma 1 1 MALT1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 267 combined immunodeficiency due to STIM1 deficiency Vacuolar myopathy 1 1 STIM1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Cataract-corneal dystrophy syndrome Commissural facial cleft 1 1 PAX6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 25 Commissural facial cleft PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 25 Conductive hearing loss kbg syndrome 1 1 ANKRD11 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Conductive hearing loss Congenital idiopathic intestinal pseudoobstruction 1 1 FLNA (2) 0.16667 1.00000 3.247e-4 7.680e-4 42 Conductive hearing loss Otopalatodigital spectrum disorder 1 1 FLNA (2) 0.16667 1.00000 3.247e-4 7.680e-4 42 Conductive hearing loss Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.16667 1.00000 3.247e-4 7.680e-4 42 Central areolar choroidal dystrophy cone dystrophy 3 1 1 GUCA1A (4) 0.16667 1.00000 3.247e-4 7.680e-4 69 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Hyperandrogenism 1 1 CYP21A2 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital aortic valve atresia Malt lymphoma 1 1 FOXP1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 267 Congenital atransferrinemia Hypochromic microcytic anemia 1 1 TF (3) 0.16667 1.00000 3.247e-4 7.680e-4 245 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Sheldon-hall syndrome 1 1 NALCN (5) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital corneal opacity Congenital ptosis 1 1 ZFHX4 (2) 0.16667 1.00000 3.247e-4 7.680e-4 280 Congenital diarrhea Congenital tufting enteropathy 1 1 EPCAM (3) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital diarrhea Duodenal atresia 1 1 GUCY2C (3) 0.16667 1.00000 3.247e-4 7.680e-4 275 Congenital factor xi deficiency Intracranial thrombosis 1 1 F11 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital finger flexion contractures Sheldon-hall syndrome 1 1 TNNI2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 258 Arachnodactyly Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 1 1 NSDHL (3) 0.16667 1.00000 3.247e-4 7.680e-4 398 Congenital hemivertebra Right aortic arch 1 0 BLTP1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital hemivertebra Liver cyst 1 0 PKD1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital hemivertebra joubert syndrome 1 1 1 INPP5E (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital hemivertebra MORM syndrome 1 1 INPP5E (2) 0.16667 1.00000 3.247e-4 7.680e-4 Collagenopathy Congenital hip dysplasia 1 1 COL2A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 15 Congenital hip dysplasia Coxa plana 1 0 COL2A1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 15 Congenital hip dysplasia Czech dysplasia 1 1 COL2A1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 15 Congenital hip dysplasia Dysspondyloenchondromatosis 1 1 COL2A1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 15 Congenital hip dysplasia kniest dysplasia 1 1 COL2A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 15 Congenital hypogonadotropic hypogonadism Schizencephaly 1 1 EMX2 (5) 0.16667 1.00000 3.247e-4 7.680e-4 230 Cataract-corneal dystrophy syndrome Congenital iris coloboma 1 0 PAX6 (1) 0.16667 1.00000 3.247e-4 7.680e-4 25 Congenital iris coloboma PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 25 Congenital limbs-face contractures-hypotonia-developmental delay syndrome Sheldon-hall syndrome 1 1 NALCN (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital methemoglobinemia Cyanosis 1 1 CYB5R3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 myopathy caused by variation in FKRP Paresthesia 1 1 FKRP (2) 0.16667 1.00000 3.247e-4 7.680e-4 Myotonia Sotos syndrome 1 1 SCN4A (2) 0.16667 1.00000 3.247e-4 7.680e-4 170 Interrupted aortic arch Myotonic dystrophy 1 1 NKX2-5 (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 166 Nasodigitoacoustic syndrome Simpson-golabi-behmel syndrome 1 1 GPC4 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital nemaline myopathy nemaline myopathy 2 1 1 NEB (4) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital nemaline myopathy nemaline myopathy 8 1 1 KLHL40 (4) 0.16667 1.00000 3.247e-4 7.680e-4 162 Congenital nemaline myopathy nemaline myopathy 9 1 1 KLHL41 (4) 0.16667 1.00000 3.247e-4 7.680e-4 162 Nephrotic syndrome, focal segmental type Papillorenal syndrome 1 1 PAX2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Neural tube defects, susceptibility to Yellow nail syndrome 1 1 CELSR1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 109 Neurofibrosarcoma noonan syndrome with multiple lentigines 1 1 NRAS (2) 0.16667 1.00000 3.247e-4 7.680e-4 neuronopathy, distal hereditary motor, autosomal dominant Vacuolar myopathy 1 1 HSPB8 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Neuropathy, congenital hypomyelinating RHO-related retinopathy 1 1 RHO (2) 0.16667 1.00000 3.247e-4 7.680e-4 243 Hairy cell leukemia noonan syndrome with multiple lentigines 1 1 BRAF (2) 0.16667 1.00000 3.247e-4 7.680e-4 46,xx sex reversal NR2F2 related multiple congenital anomalies/dysmorphic syndrome 1 1 NR2F2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 183 46,xx sex reversal NR5A1-related sex development disorder 1 1 NR5A1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 183 Ocular albinism Usher syndrome type 2D 1 1 WHRN (2) 0.16667 1.00000 3.247e-4 7.680e-4 384 oculocutaneous albinism type 1 Retinoschisis 1 1 TYR (2) 0.16667 1.00000 3.247e-4 7.680e-4 OFD1-related ciliopathy Simpson-golabi-behmel syndrome 1 1 OFD1 (6) 0.16667 1.00000 3.247e-4 7.680e-4 Commissural facial cleft Opitz g/bbb syndrome 1 1 SPECC1L (2) 0.16667 1.00000 3.247e-4 7.680e-4 25 noonan syndrome with multiple lentigines Osteochondroma 1 1 PTPN11 (2) 0.16667 1.00000 3.247e-4 7.680e-4 49 Aortic rupture Osteolysis, hereditary multicentric 1 1 MMP2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Growth hormone-secreting pituitary adenoma Osteoma cutis 1 1 GNAS (2) 0.16667 1.00000 3.247e-4 7.680e-4 Osteopoikilosis Tietz syndrome 1 1 LEMD3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 143 leukoencephalopathy with vanishing white matter 1 Vanishing white matter disease 1 1 EIF2B1 (3) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 174 Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 2 1 1 EIF2B2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 174 leukoencephalopathy with vanishing white matter 2 Vanishing white matter disease 1 1 EIF2B2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 174 leukoencephalopathy with vanishing white matter 3 Vanishing white matter disease 1 1 EIF2B3 (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 174 Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 4 1 1 EIF2B4 (2) 0.16667 1.00000 3.247e-4 7.680e-4 174 leukoencephalopathy with vanishing white matter 4 Vanishing white matter disease 1 1 EIF2B4 (3) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 174 Cree leukoencephalopathy leukoencephalopathy with vanishing white matter 5 1 1 EIF2B5 (2) 0.16667 1.00000 3.247e-4 7.680e-4 174 leukoencephalopathy with vanishing white matter 5 Vanishing white matter disease 1 1 EIF2B5 (3) 0.16667 1.00000 3.247e-4 7.680e-4 174 long qt syndrome 5 Long qt syndrome, digenic 1 1 KCNE1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 dilated cardiomyopathy 1E Long qt syndrome, digenic 1 1 SCN5A (2) 0.16667 1.00000 3.247e-4 7.680e-4 Magnesium metabolism disorder Tetany 1 1 CNNM2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 359 Magnesium metabolism disorder renal hypomagnesemia 4 1 1 EGF (2) 0.16667 1.00000 3.247e-4 7.680e-4 359 Magnesium metabolism disorder Primary hypomagnesemia with hypocalciuria 1 1 FXYD2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Magnesium metabolism disorder renal hypomagnesemia 2 1 1 FXYD2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Malocclusion Prognathism 1 1 ADAMTS1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Malocclusion poirier-bienvenu neurodevelopmental syndrome 1 1 CSNK2B (2) 0.16667 1.00000 3.247e-4 7.680e-4 Malt lymphoma Mucosa-associated lymphoma 1 1 BCL10 (2) 0.16667 1.00000 3.247e-4 7.680e-4 MED12-related intellectual disability syndrome Simpson-golabi-behmel syndrome 1 1 MED12 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Li-fraumeni syndrome melanoma-pancreatic cancer syndrome 1 1 CDKN2A (3) 0.16667 1.00000 3.247e-4 7.680e-4 45 Aortic rupture menkes disease 1 1 ATP7A (3) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital iris coloboma microphthalmia, isolated, with coloboma 7 1 1 ABCB6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital small ears Microtia 1 1 HOXA2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Miller-dieker syndrome Postaxial acrofacial dysostosis 1 1 DHODH (5) 0.16667 1.00000 3.247e-4 7.680e-4 225 Growth hormone-secreting pituitary adenoma X-linked acrogigantism due to xq26 microduplication 1 1 GPR101 (2) 0.16667 1.00000 3.247e-4 7.680e-4 235 Central areolar choroidal dystrophy GUCY2D-related recessive retinopathy 1 1 GUCY2D (3) 0.16667 1.00000 3.247e-4 7.680e-4 69 hartnup disease Iminoglycinuria 1 1 SLC6A19 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Hematologic neoplasms thrombocytopenia 5 1 1 ETV6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hemiplegic migraine hemiplegic migraine-developmental and epileptic encephalopathy spectrum 1 1 ATP1A2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Hemoglobin e disease Intellectual developmental disorder hemoglobin persistence 1 1 BCL11A (3) 0.16667 1.00000 3.247e-4 7.680e-4 Cooleys anemia Hemoglobin e disease 1 1 HBB (3) 0.16667 1.00000 3.247e-4 7.680e-4 18 Hemoglobin e disease Hemoglobin lepore beta thalassemia 1 1 HBD (2) 0.16667 1.00000 3.247e-4 7.680e-4 Cyanosis Hemoglobinopathy toms river 1 1 HBG2 (5) 0.16667 1.00000 3.247e-4 7.680e-4 18 Hereditary antithrombin deficiency Intracranial thrombosis 1 1 SERPINC1 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Hereditary ataxia Spastic ataxia of charlevoix-saguenay 1 1 SACS (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 Hereditary breast-ovarian cancer syndrome PALB2-related cancer predisposition 1 1 PALB2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hereditary continuous muscle fiber activity Paroxysmal dyskinesia 1 1 KCNA1 (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 322 Hereditary neuropathy with liability to pressure palsies Paresthesia 1 1 PMP22 (4) 0.16667 1.00000 3.247e-4 7.680e-4 382 hereditary von Willebrand disease Intracranial thrombosis 1 1 VWF (3) 0.16667 1.00000 3.247e-4 7.680e-4 Congenital hip dysplasia Hip dislocation-facial dysmorphism syndrome 1 1 TRIM33 (2) 0.16667 1.00000 3.247e-4 7.680e-4 15 Hyperandrogenism Right bundle branch block 1 1 BMPR2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hyperandrogenism Right cardiac ventricular dilatation 1 1 BMPR2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hyperekplexia sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 1 1 GPHN (4) 0.16667 1.00000 3.247e-4 7.680e-4 322 hypertrichotic osteochondrodysplasia Cantu type Kleefstra syndrome 1 1 ABCC9 (2) 0.16667 1.00000 3.247e-4 7.680e-4 234 Bilateral multicystic dysplastic kidney Hyperuricemic nephropathy 1 1 HNF1B (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hyperuricemic nephropathy Renal dysplasia 1 0 HNF1B (1) 0.16667 1.00000 3.247e-4 7.680e-4 Giant cell tumor of tendon sheath Hyperuricemic nephropathy 1 1 HNF1B (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hypochromic anemia Hypochromic microcytic anemia 1 1 SLC11A2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Hypochromic microcytic anemia Refractory anemia 1 1 TNF (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hypochromic microcytic anemia Hypochromic sideroblastic anemia 1 1 STEAP3 (7) 0.16667 1.00000 3.247e-4 7.680e-4 245 hypomagnesemia, seizures, and intellectual disability 1 Magnesium metabolism disorder 1 1 CNNM2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 359 hypopigmentation-punctate palmoplantar keratoderma syndrome Pseudoxanthoma elasticum 1 1 ENPP1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 207 dyskeratosis congenita, autosomal dominant 2 Telomere syndrome 1 1 TERT (2) 0.16667 1.00000 3.247e-4 7.680e-4 thrombocytopenia 2 Thrombocytopenia with normal platelets 1 1 ANKRD26 (3) 0.16667 1.00000 3.247e-4 7.680e-4 thrombocytopenia 4 Thrombocytopenia with normal platelets 1 1 CYCS (4) 0.16667 1.00000 3.247e-4 7.680e-4 thrombocytopenia 5 Thrombocytopenia with normal platelets 1 1 ETV6 (3) 0.16667 1.00000 3.247e-4 7.680e-4 thrombocytopenia 7 Thrombocytopenia with normal platelets 1 1 IKZF5 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Tietz syndrome Waardenburg syndrome type 2 1 1 MITF (6) 0.16667 1.00000 3.247e-4 7.680e-4 Li-fraumeni syndrome Trisomy 1 1 CDKN2A (3) 0.16667 1.00000 3.247e-4 7.680e-4 45 Central areolar choroidal dystrophy TTLL5-related retinopathy 1 1 TTLL5 (2) 0.16667 1.00000 3.247e-4 7.680e-4 69 Upper extremity deformity, congenital Weaver syndrome 1 1 EZH2 (6) 0.16667 1.00000 3.247e-4 7.680e-4 53 Urinary bladder diseases Ventricular outflow obstruction 1 1 INS (2) 0.16667 1.00000 3.247e-4 7.680e-4 224 Adrenocortical carcinoma Urogenital neoplasms 1 1 TP53 (2) 0.16667 1.00000 3.247e-4 7.680e-4 88 Choroid plexus carcinoma Urogenital neoplasms 1 1 TP53 (3) 0.16667 1.00000 3.247e-4 7.680e-4 88 Nephrotic syndrome, focal segmental type Ventriculomegaly with cystic kidney disease 1 1 CRB2 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Commissural facial cleft Waardenburg syndrome type 2 1 1 MITF (5) 0.16667 1.00000 3.247e-4 7.680e-4 Kleins syndrome Waardenburg syndrome type 2 1 1 MITF (2) 0.16667 1.00000 3.247e-4 7.680e-4 186 Kleins syndrome Waardenburg syndrome type 4B 1 1 EDN3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 186 Clapo syndrome Weaver syndrome 1 1 PIK3CA (3) 0.16667 1.00000 3.247e-4 7.680e-4 53 Cloves syndrome Weaver syndrome 1 1 PIK3CA (3) 0.16667 1.00000 3.247e-4 7.680e-4 53 Congenital intestinal duplication Weaver syndrome 1 0 PIK3CA (1) 0.16667 1.00000 3.247e-4 7.680e-4 53 Hemiplegic migraine X-linked cerebral cerebellar coloboma syndrome 1 0 WDR45 (1) 0.16667 1.00000 3.247e-4 7.680e-4 412 46,xx sex reversal X-linked congenital generalized hypertrichosis 1 1 SOX3 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Aortic rupture X-linked distal spinal muscular atrophy 1 1 ATP7A (6) 0.16667 1.00000 3.247e-4 7.680e-4 Dysfibrinogenemia X-linked hyper-igm syndrome 1 1 CD40LG (2) 0.16667 1.00000 3.247e-4 7.680e-4 Hemiplegic migraine X-linked optic atrophy 1 0 WDR45 (1) 0.16667 1.00000 3.247e-4 7.680e-4 412 Diaphragmatic malformations X-linked osteoporosis 1 1 PLS3 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Retinoschisis X-linked retinoschisis 1 1 RS1 (7) 0.16667 1.00000 3.247e-4 7.680e-4 xeroderma pigmentosum group B Xeroderma pigmentosum-cockayne syndrome 1 1 ERCC3 (4) 0.16667 1.00000 3.247e-4 7.680e-4 113 xeroderma pigmentosum group D Xeroderma pigmentosum-cockayne syndrome 1 1 ERCC2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 113 xeroderma pigmentosum group F Xeroderma pigmentosum-cockayne syndrome 1 1 ERCC4 (3) 0.16667 1.00000 3.247e-4 7.680e-4 xeroderma pigmentosum group G Xeroderma pigmentosum-cockayne syndrome 1 1 ERCC5 (4) 0.16667 1.00000 3.247e-4 7.680e-4 113 IFIH1-related type 1 interferonopathy Littles disease 1 1 IFIH1 (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 12 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome Peritoneal fibrosis 1 1 TGFB1 (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-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 7.680e-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 7.680e-4 101 Eye pain Immune system disorder 1 1 POMC (2) 0.16667 1.00000 3.247e-4 7.680e-4 101 Immune system disorder Rhabdomyoma 1 1 POMC (2) 0.16667 1.00000 3.247e-4 7.680e-4 101 Immune system disorder Sacroiliitis 1 1 POMC (2) 0.16667 1.00000 3.247e-4 7.680e-4 101 immunodeficiency 37 Malt lymphoma 1 1 BCL10 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome immunodeficiency 57 1 1 RIPK1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 264 Autoimmune hemolytic anemia immunodeficiency 78 with autoimmunity and developmental delay 1 1 TPP2 (4) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-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 7.680e-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 7.680e-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 7.680e-4 IMPG1-related dominant retinopathy Vitelliform macular dystrophy 1 1 IMPG1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 310 IMPG1-related recessive retinopathy Vitelliform macular dystrophy 1 1 IMPG1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 310 IMPG2-related recessive retinopathy Vitelliform macular dystrophy 1 1 IMPG2 (4) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 Glucose-6-phosphate dehydrogenase deficiency incontinentia pigmenti 1 1 IKBKG (2) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-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 7.680e-4 264 inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum 1 1 ABCC6 (2) 0.16667 1.00000 3.247e-4 7.680e-4 207 Intellectual developmental disorder cataracts myopathy Post-operative atrial fibrillation 1 1 ZBTB20 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Intellectual developmental disorder expressive speech dysmorphic Intellectual developmental disorder speech dysmorphic 1 1 SETBP1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 341 Intellectual developmental disorder language autism Malt lymphoma 1 1 FOXP1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 267 Intellectual developmental disorder speech dysmorphic Schinzel-Giedion syndrome 1 1 SETBP1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 341 Intellectual disability and myopathy syndrome Kleefstra syndrome 1 1 ABCC9 (4) 0.16667 1.00000 3.247e-4 7.680e-4 234 Intermittent explosive disorder Paroxysmal dyskinesia 1 1 COMT (2) 0.16667 1.00000 3.247e-4 7.680e-4 Intervertebral disc displacement spondyloepiphyseal dysplasia with congenital joint dislocations 1 1 CHST3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Intestinal aganglionosis Kleins syndrome 1 0 EDNRB (1) 0.16667 1.00000 3.247e-4 7.680e-4 Cardiac tamponade Intracranial thrombosis 1 1 PLAT (2) 0.16667 1.00000 3.247e-4 7.680e-4 Chromosome 17q23.1-q23.2 deletion syndrome Intraductal noninfiltrating carcinoma 1 1 SLC2A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 99 Glucose transporter type 1 deficiency syndrome Intraductal noninfiltrating carcinoma 1 1 SLC2A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 99 Epilepsy with myoclonic absence Intraductal noninfiltrating carcinoma 1 1 SLC2A1 (3) 0.16667 1.00000 3.247e-4 7.680e-4 99 Growth hormone-secreting pituitary adenoma Isolated somatotropin deficiency 1 1 GH1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 KCND2-related neurodevelopmental disorder with or without seizures Myoclonic encephalopathy 1 1 KCND2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Kleins syndrome Waardenburg syndrome type 4A 1 1 EDNRB (2) 0.16667 1.00000 3.247e-4 7.680e-4 Lactic acidosis Ptosis 1 0 PMPCA (1) 0.16667 1.00000 3.247e-4 7.680e-4 158 Extraskeletal myxoid chondrosarcoma TCF12-related craniosynostosis 1 1 TCF12 (2) 0.16667 1.00000 3.247e-4 7.680e-4 250 Central areolar choroidal dystrophy EYS-related retinopathy 1 1 EYS (2) 0.16667 1.00000 3.247e-4 7.680e-4 Facioscapulohumeral muscular dystrophy immunodeficiency-centromeric instability-facial anomalies syndrome 1 1 1 DNMT3B (5) 0.16667 1.00000 3.247e-4 7.680e-4 324 Factor xi deficiency Intracranial thrombosis 1 1 F11 (4) 0.16667 1.00000 3.247e-4 7.680e-4 FADD-related immunodeficiency Oculopalatosekeletal syndrome 1 1 FADD (3) 0.16667 1.00000 3.247e-4 7.680e-4 familial hemiplegic migraine Hemiplegic migraine 1 1 SCN1A (2) 0.16667 1.00000 3.247e-4 7.680e-4 412 fanconi anemia complementation group d1 Hereditary breast-ovarian cancer syndrome 1 1 BRCA2 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Chordoma fanconi anemia complementation group d1 1 1 BRCA2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 fanconi anemia complementation group d1 Respiratory system cancer 1 1 BRCA2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 fanconi anemia complementation group i Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 1 FANCI (2) 0.16667 1.00000 3.247e-4 7.680e-4 181 fanconi anemia complementation group n Hereditary breast-ovarian cancer syndrome 1 1 PALB2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 fanconi anemia complementation group o Hereditary breast-ovarian cancer syndrome 1 1 RAD51C (4) 0.16667 1.00000 3.247e-4 7.680e-4 fanconi anemia, complementation group s Hereditary breast-ovarian cancer syndrome 1 1 BRCA1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies Hemiplegic migraine 1 1 ATP1A2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 focal segmental glomerulosclerosis 7 Nephrotic syndrome, focal segmental type 1 1 PAX2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 focal segmental glomerulosclerosis 9 Nephrotic syndrome, focal segmental type 1 1 CRB2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Frontal lobe epilepsy Intracranial hypertension 1 1 SLC4A10 (2) 0.16667 1.00000 3.247e-4 7.680e-4 423 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease 1 1 SQSTM1 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Arachnodactyly FZD4-related exudative vitreoretinopathy 1 1 FZD4 (3) 0.16667 1.00000 3.247e-4 7.680e-4 G6PD deficiency Glucose-6-phosphate dehydrogenase deficiency 1 1 G6PD (4) 0.16667 1.00000 3.247e-4 7.680e-4 12 glyceronephosphate O-acyltransferase deficiency Rhizomelic chondrodysplasia punctata 1 1 GNPAT (7) 0.16667 1.00000 3.247e-4 7.680e-4 305 Glycine encephalopathy multiple mitochondrial dysfunctions syndrome 7 1 1 GCSH (5) 0.16667 1.00000 3.247e-4 7.680e-4 GPR143-related foveal hypoplasia Ocular albinism 1 1 GPR143 (5) 0.16667 1.00000 3.247e-4 7.680e-4 Oculopalatosekeletal syndrome Otodental dysplasia 1 1 FGF3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Oculopalatosekeletal syndrome Otodental syndrome 1 1 FGF3 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Ambiguous genitalia P450 oxidoreductase deficiency 1 1 POR (2) 0.16667 1.00000 3.247e-4 7.680e-4 Chordoma PALB2-related cancer predisposition 1 1 PALB2 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Paresthesia Ventricular outflow obstruction 1 1 INS (2) 0.16667 1.00000 3.247e-4 7.680e-4 Paris-trousseau thrombocytopenia Skeletal ewing sarcoma 1 1 FLI1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Peripheral primitive neuroectodermal tumor Skeletal ewing sarcoma 1 0 FLI1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Liver cyst Periventricular heterotopia 1 0 PKD1 (1) 0.16667 1.00000 3.247e-4 7.680e-4 Periventricular heterotopia X-linked lissencephaly 1 1 ARX (4) 0.16667 1.00000 3.247e-4 7.680e-4 255 Periventricular heterotopia X-linked spasticity-intellectual disability-epilepsy syndrome 1 1 ARX (3) 0.16667 1.00000 3.247e-4 7.680e-4 255 perrault syndrome 5 Ptosis 1 1 TWNK (2) 0.16667 1.00000 3.247e-4 7.680e-4 perrault syndrome 5 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 1 TWNK (6) 0.16667 1.00000 3.247e-4 7.680e-4 181 Post-operative atrial fibrillation primrose syndrome 1 1 ZBTB20 (2) 0.16667 1.00000 3.247e-4 7.680e-4 Potassium-aggravated myotonia Sotos syndrome 1 1 SCN4A (3) 0.16667 1.00000 3.247e-4 7.680e-4 170 progressive retinal dystrophy due to retinol transport defect Vitamin a deficiency 1 1 RBP4 (3) 0.16667 1.00000 3.247e-4 7.680e-4 27 Hereditary breast-ovarian cancer syndrome RAD51C-related cancer predisposition 1 1 RAD51C (4) 0.16667 1.00000 3.247e-4 7.680e-4 Hereditary breast-ovarian cancer syndrome RAD51D-related cancer predisposition 1 1 RAD51D (4) 0.16667 1.00000 3.247e-4 7.680e-4 Magnesium metabolism disorder renal hypomagnesemia 3 1 1 CLDN16 (2) 0.16667 1.00000 3.247e-4 7.680e-4 359 Hyperuricemic nephropathy renal tubular dysgenesis of genetic origin 1 1 REN (3) 0.16667 1.00000 3.247e-4 7.680e-4 GUCY2D-related dominant retinopathy Retinal cone dystrophy 1 1 GUCY2D (3) 0.16667 1.00000 3.247e-4 7.680e-4 69 GUCY2D-related recessive retinopathy Retinal cone dystrophy 1 1 GUCY2D (3) 0.16667 1.00000 3.247e-4 7.680e-4 69 Chilblain lupus erythematosus retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 1 1 TREX1 (6) 0.16667 1.00000 3.247e-4 7.680e-4 159 Retinoschisis Temperature-sensitive oculocutaneous albinism 1 1 TYR (3) 0.16667 1.00000 3.247e-4 7.680e-4 Adrenocortical carcinoma Sapho syndrome 1 1 TP53 (2) 0.16667 1.00000 3.247e-4 7.680e-4 88 Choroid plexus carcinoma Sapho syndrome 1 1 TP53 (2) 0.16667 1.00000 3.247e-4 7.680e-4 88 Choroid plexus papilloma Sapho syndrome 1 1 TP53 (4) 0.16667 1.00000 3.247e-4 7.680e-4 88 Refractory anemia Sapho syndrome 1 1 TNF (2) 0.16667 1.00000 3.247e-4 7.680e-4 Ambiguous genitalia Schaaf-yang syndrome 1 1 MAGEL2 (5) 0.16667 1.00000 3.247e-4 7.680e-4 86 Schilder disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 1 POLG (6) 0.16667 1.00000 3.247e-4 7.680e-4 Preaxial polydactyly with upper back hypertrichosis Schizencephaly 1 1 SHH (2) 0.16667 1.00000 3.247e-4 7.680e-4 230 Schizencephaly Skeletal system disorder 1 0 SHH (1) 0.16667 1.00000 3.247e-4 7.680e-4 230 holoprosencephaly 3 Schizencephaly 1 1 SHH (2) 0.16667 1.00000 3.247e-4 7.680e-4 230 Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Schizencephaly 1 1 COL4A1 (4) 0.16667 1.00000 3.247e-4 7.680e-4 Colpocephaly Schizencephaly 1 1 COL4A1 (2) 0.16667 1.00000 3.247e-4 7.680e-4 SCN4A-related myopathy, autosomal recessive Sotos syndrome 1 1 SCN4A (2) 0.16667 1.00000 3.247e-4 7.680e-4 170 Hyperuricemic nephropathy SEC61A1 deficiency 1 1 SEC61A1 (3) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth Sotos syndrome 1 1 SETD2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 Sheldon-hall syndrome TPM2-related myopathy 1 1 TPM2 (3) 0.16667 1.00000 3.247e-4 7.680e-4 258 sorsby fundus dystrophy Urinary bladder diseases 1 1 TIMP3 (3) 0.16667 1.00000 3.247e-4 7.680e-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 7.680e-4 Toxic nodular goiter Uterine polyp 2 0 NFIA (1), TERT (1) 0.05000 0.11765 3.122e-4 7.680e-4 Moyamoya disease Peripheral vascular disease 3 0 HDAC9 (1), TWIST1 (1), DOK7 (1) 0.03226 0.09091 3.112e-4 7.680e-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 7.678e-4 Galloway-mowat syndrome Genetic steroid-resistant nephrotic syndrome 2 2 NUP107 (5), NUP133 (6) 0.04444 0.16667 3.080e-4 7.678e-4 20 Galloway-mowat syndrome Hereditary steroid-resistant nephrotic syndrome 2 2 NUP107 (5), NUP133 (6) 0.04444 0.16667 3.080e-4 7.678e-4 20 Congenital diaphragmatic hernia Fraser syndrome 2 2 FRAS1 (7), FREM2 (6) 0.05128 0.10000 3.003e-4 7.486e-4 Osteosclerosis Otosclerosis 2 2 LTBP3 (3), TNFSF11 (2) 0.03448 0.25000 2.973e-4 7.414e-4 Cirrhosis Liver neoplasms 2 2 KRT8 (3), KRT18 (4) 0.01299 0.66667 2.885e-4 7.195e-4 Dyskinesia Dyskinesia, drug-induced 2 2 PDYN (2), DRD2 (2) 0.05000 0.13333 2.840e-4 7.083e-4 Spondylosis Vertebral column disorder 2 0 SOX5 (1), HLA-B (1) 0.04762 0.15385 2.824e-4 7.044e-4 Patent ductus arteriosus Uranostaphyloschisis 2 0 FLNA (1), INPP5E (1) 0.05128 0.12500 2.757e-4 6.877e-4 Congenital adrenal hyperplasia Ovarian cysts 2 1 CYP17A1 (3), MSH2 (1) 0.04444 0.18182 2.725e-4 6.799e-4 193 Auditory system disease Benign prostatic hyperplasia 2 0 BMAL1 (1), RASSF10 (1) 0.04444 0.18182 2.725e-4 6.799e-4 Hoarding disorder Pericarditis 2 0 LRRC3B (1), NEK10 (1) 0.05263 0.10526 2.705e-4 6.749e-4 279 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 6.746e-4 Choroidal dystrophy Retinitis pigmentosa, digenic 1 1 PRPH2 (5) 0.25000 0.50000 2.598e-4 6.484e-4 69 Choroidal sclerosis Retinitis pigmentosa, digenic 1 0 PRPH2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 69 Rhabdoid tumor Rhabdoid tumor predisposition syndrome 1 1 SMARCB1 (7) 0.25000 0.50000 2.598e-4 6.484e-4 Rhabdoid tumor predisposition syndrome Thoracic neoplasms 1 1 SMARCA4 (6) 0.25000 0.50000 2.598e-4 6.484e-4 261 Sclerosteosis Van buchem disease 1 1 SOST (7) 0.25000 0.50000 2.598e-4 6.484e-4 Seborrhea-like dermatitis with psoriasiform elements Thiel-behnke corneal dystrophy 1 0 TBCD (1) 0.25000 0.50000 2.598e-4 6.484e-4 Pelger-huet anomaly Specific granule deficiency 1 1 CEBPE (5) 0.25000 0.50000 2.598e-4 6.484e-4 Growth hormone insensitivity syndrome Growth hormone insensitivity, partial 1 1 GHR (2) 0.25000 0.50000 2.598e-4 6.484e-4 Growth hormone insensitivity syndrome Growth hormone insensitivity syndrome with immune dysregulation 1 1 STAT5B (6) 0.25000 0.50000 2.598e-4 6.484e-4 Hallermanns syndrome Schwartz-lelek syndrome 1 0 GJA1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 Hallopeau siemens disease Nail dystrophy 1 1 COL7A1 (2) 0.25000 0.50000 2.598e-4 6.484e-4 252 Hepatic adenoma Insulin resistant diabetes mellitus 1 1 HNF1A (4) 0.25000 0.50000 2.598e-4 6.484e-4 Branchiootic syndrome Otofaciocervical syndrome 1 1 EYA1 (6) 0.25000 0.50000 2.598e-4 6.484e-4 134 Pancreatic cyst Polycystic kidney disease with tuberous sclerosis 1 1 PKD1 (2) 0.25000 0.50000 2.598e-4 6.484e-4 Pancreatic cyst Renovascular hypertension 1 0 PKD1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 Parapsoriasis Thromboangiitis obliterans 1 1 HLA-A (2) 0.25000 0.50000 2.598e-4 6.484e-4 Aphasia Paresis 1 1 PLAT (2) 0.25000 0.50000 2.598e-4 6.484e-4 Paresis Postictal aphasia 1 1 PLAT (2) 0.25000 0.50000 2.598e-4 6.484e-4 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Partial atrioventricular canal defect 1 1 GATA4 (3) 0.25000 0.50000 2.598e-4 6.484e-4 106 Deafness with congenital onychodystrophy Periodic paralysis 1 0 TBC1D24 (1) 0.25000 0.50000 2.598e-4 6.484e-4 105 Doors syndrome Periodic paralysis 1 1 TBC1D24 (4) 0.25000 0.50000 2.598e-4 6.484e-4 105 Peripheral pulmonary artery stenosis Syndactyly of the toes 1 0 CUL9 (1) 0.25000 0.50000 2.598e-4 6.484e-4 Pituitary adenoma Pituitary gigantism 1 1 AIP (2) 0.25000 0.50000 2.598e-4 6.484e-4 235 Polycystic kidney disease with tuberous sclerosis Renovascular hypertension 1 1 PKD1 (2) 0.25000 0.50000 2.598e-4 6.484e-4 48 Polycystic kidneys, severe infantile with tuberous sclerosis Renovascular hypertension 1 0 PKD1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 48 Polymyalgia rheumatica Porphyruria 1 0 HFE (1) 0.25000 0.50000 2.598e-4 6.484e-4 251 Medullary carcinoma Primary hypertrophic osteoarthropathy 1 1 HPGD (6) 0.25000 0.50000 2.598e-4 6.484e-4 nevoid basal cell carcinoma syndrome Tessier facial cleft 1 1 PTCH2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 25 Odontochondrodysplasia 2 with hearing loss and diabetes Testis atrophy 1 1 PLEKHG5 (3) 0.25000 0.50000 2.598e-4 6.484e-4 Aniridia-cerebellar ataxia-intellectual disability syndrome Optic nerve disorder 1 1 PAX6 (3) 0.25000 0.50000 2.598e-4 6.484e-4 Congenital aniridia Optic nerve disorder 1 1 PAX6 (2) 0.25000 0.50000 2.598e-4 6.484e-4 Craniopharyngioma Osteopathia striata with cranial sclerosis 1 1 CTNNB1 (3) 0.25000 0.50000 2.598e-4 6.484e-4 81 Osteopathia striata with cranial sclerosis Vascular calcification 1 1 CTNNB1 (3) 0.25000 0.50000 2.598e-4 6.484e-4 81 Camurati-engelmann syndrome Osteopetrosis and infantile neuroaxonal dystrophy 1 1 LRP5 (2) 0.25000 0.50000 2.598e-4 6.484e-4 123 Teebi syndrome Tessier facial cleft 1 1 SPECC1L (4) 0.25000 0.50000 2.598e-4 6.484e-4 Ameloblastoma Tethered cord syndrome 1 1 BRAF (2) 0.25000 0.50000 2.598e-4 6.484e-4 Anaplastic astrocytoma Tethered cord syndrome 1 1 BRAF (2) 0.25000 0.50000 2.598e-4 6.484e-4 200 Craniopharyngioma Tethered cord syndrome 1 1 BRAF (3) 0.25000 0.50000 2.598e-4 6.484e-4 Mitral valve disease Uterine disease 1 1 MTHFR (2) 0.25000 0.50000 2.598e-4 6.484e-4 60 Camurati-engelmann syndrome Van buchem disease 1 0 LRP5 (1) 0.25000 0.50000 2.598e-4 6.484e-4 123 Craniopharyngioma Vascular calcification 1 1 CTNNB1 (3) 0.25000 0.50000 2.598e-4 6.484e-4 81 Congenital scoliosis Verloes-bourguignon syndrome 1 0 LTBP3 (1) 0.25000 0.50000 2.598e-4 6.484e-4 28 Granulosa cell tumor of ovary Vertebral anomalies with endocrine and t-cell dysfunction 1 1 DICER1 (2) 0.25000 0.50000 2.598e-4 6.484e-4 216 Senter syndrome Vohwinkel syndrome 1 1 GJB2 (3) 0.25000 0.50000 2.598e-4 6.484e-4 68 15q24 microdeletion Witteveen-kolk syndrome 1 1 SIN3A (4) 0.25000 0.50000 2.598e-4 6.484e-4 362 X-linked centronuclear myopathy X-linked myotubular myopathy 1 1 MTM1 (4) 0.25000 0.50000 2.598e-4 6.484e-4 61 Cone dystrophy, x-linked X-linked cone dysfunction syndrome with myopia 1 1 OPN1MW (2) 0.25000 0.50000 2.598e-4 6.484e-4 217 Scapuloperoneal myopathy X-linked emery-dreifuss muscular dystrophy 1 1 FHL1 (5) 0.25000 0.50000 2.598e-4 6.484e-4 Scapuloperoneal myopathy X-linked myopathy 1 1 FHL1 (5) 0.25000 0.50000 2.598e-4 6.484e-4 X-linked emery-dreifuss muscular dystrophy X-linked myopathy 1 1 FHL1 (5) 0.25000 0.50000 2.598e-4 6.484e-4 433 Infantile liver failure Verloes-bourguignon syndrome 1 0 SCYL1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 Deafness with congenital onychodystrophy Infantile myoclonic epilepsy 1 0 TBC1D24 (1) 0.25000 0.50000 2.598e-4 6.484e-4 105 Doors syndrome Infantile myoclonic epilepsy 1 1 TBC1D24 (4) 0.25000 0.50000 2.598e-4 6.484e-4 105 Infantile myoclonic epilepsy Periodic paralysis 1 0 TBC1D24 (1) 0.25000 0.50000 2.598e-4 6.484e-4 105 Intellectual developmental disorder seizures extrapyramidal Vulto-van silfhout-de vries syndrome 1 1 DEAF1 (5) 0.25000 0.50000 2.598e-4 6.484e-4 Interleukin 1 receptor antagonist deficiency Recurrent multifocal osteomyelitis 1 1 IL1RN (3) 0.25000 0.50000 2.598e-4 6.484e-4 219 Intermittent hydrarthrosis Sweet syndrome 1 1 MEFV (2) 0.25000 0.50000 2.598e-4 6.484e-4 Aphasia Intracranial embolism and thrombosis 1 1 PLAT (2) 0.25000 0.50000 2.598e-4 6.484e-4 29 Intracranial embolism and thrombosis Postictal aphasia 1 1 PLAT (2) 0.25000 0.50000 2.598e-4 6.484e-4 29 Juvenile hyperuricemic nephropathy Tonne-kalscheuer syndrome 1 1 REN (4) 0.25000 0.50000 2.598e-4 6.484e-4 70 Familial mediterranean fever Intermittent hydrarthrosis 1 1 MEFV (2) 0.25000 0.50000 2.598e-4 6.484e-4 Familial mediterranean fever Sweet syndrome 1 1 MEFV (3) 0.25000 0.50000 2.598e-4 6.484e-4 Lethal acantholytic epidermolysis bullosa Ventricular arrhythmia 1 1 DSP (3) 0.25000 0.50000 2.598e-4 6.484e-4 206 macrothrombocytopenia, isolated Parkinson-dementia complex of guam 1 1 TRPM7 (2) 0.25000 0.50000 2.598e-4 6.484e-4 Arteriovenous malformations Encephalocraniocutaneous lipomatosis 1 1 KRAS (3) 0.25000 0.50000 2.598e-4 6.484e-4 Arteriovenous malformations Toriello-carey syndrome 1 1 KRAS (2) 0.25000 0.50000 2.598e-4 6.484e-4 Arteriovenous malformations Port-wine stain 1 1 RASA1 (2) 0.25000 0.50000 2.598e-4 6.484e-4 65 Arthralgia Mevalonate kinase deficiency 1 1 MVK (3) 0.25000 0.50000 2.598e-4 6.484e-4 327 Atrioventricular excitation abnormality Keppen-lubinsky syndrome 1 1 MYH6 (2) 0.25000 0.50000 2.598e-4 6.484e-4 328 Auditory perceptual disorder Congenital exomphalos 1 1 CHRNA7 (2) 0.25000 0.50000 2.598e-4 6.484e-4 Autoimmune pancreatitis Tongue cancer 1 1 HLA-DQB1 (2) 0.25000 0.50000 2.598e-4 6.484e-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 6.484e-4 Bifid nose Cleft face 1 0 GLI2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 169 Bifid nose Craniofaciosynostosis 1 1 FREM1 (3) 0.25000 0.50000 2.598e-4 6.484e-4 Congenital aniridia Desmoplastic small round cell tumor 1 1 WT1 (2) 0.25000 0.50000 2.598e-4 6.484e-4 86 Cone dystrophy, x-linked Deuteranomaly 1 1 OPN1MW (2) 0.25000 0.50000 2.598e-4 6.484e-4 217 Cone monochromatism Deuteranomaly 1 1 OPN1MW (2) 0.25000 0.50000 2.598e-4 6.484e-4 217 Deuteranomaly X-linked cone dysfunction syndrome with myopia 1 1 OPN1MW (3) 0.25000 0.50000 2.598e-4 6.484e-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 6.484e-4 220 Camurati-engelmann syndrome Diaphyseal bone disorder 1 1 TGFB1 (6) 0.25000 0.50000 2.598e-4 6.484e-4 Diastolic heart failure Retinopathy background 1 1 ABCA4 (2) 0.25000 0.50000 2.598e-4 6.484e-4 150 Congenital scoliosis Dilatation of pulmonary artery 1 0 FBN1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 28 Distal amyotrophy Lysine metabolism disorder 1 0 DHTKD1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 Dubowitz syndrome Lig4 syndrome 1 1 LIG4 (4) 0.25000 0.50000 2.598e-4 6.484e-4 360 Dystrophic epidermolysis bullosa Nail dystrophy 1 1 COL7A1 (8) 0.25000 0.50000 2.598e-4 6.484e-4 252 Dystrophic epidermolysis bullosa Hallopeau siemens disease 1 1 COL7A1 (8) 0.25000 0.50000 2.598e-4 6.484e-4 252 Ectopic rhythm Paroxysmal ventricular fibrillation 1 1 SCN5A (2) 0.25000 0.50000 2.598e-4 6.484e-4 140 Elsahy-waters syndrome Teebi syndrome 1 1 CDH11 (5) 0.25000 0.50000 2.598e-4 6.484e-4 Encephalocraniocutaneous lipomatosis Toriello-carey syndrome 1 1 KRAS (3) 0.25000 0.50000 2.598e-4 6.484e-4 12q14 microdeletion syndrome Benign epithelial tumor of salivary glands 1 1 HMGA2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 15q13.3 microdeletion syndrome Auditory perceptual disorder 1 1 CHRNA7 (5) 0.25000 0.50000 2.598e-4 6.484e-4 15q13.3 microdeletion syndrome Congenital exomphalos 1 1 CHRNA7 (5) 0.25000 0.50000 2.598e-4 6.484e-4 109 15q24 microdeletion Cardiac, facial, and digital anomalies with developmental delay 1 1 MEIS2 (3) 0.25000 0.50000 2.598e-4 6.484e-4 17p11.2 microduplication syndrome Birt-hogg-dube syndrome 1 1 FLCN (7) 0.25000 0.50000 2.598e-4 6.484e-4 285 22q13 monosomy syndrome Hyperkalemia 1 0 INS (1) 0.25000 0.50000 2.598e-4 6.484e-4 224 Acid-base disorder Wernicke-korsakoff syndrome 1 1 ADH1B (2) 0.25000 0.50000 2.598e-4 6.484e-4 Acrocallosal syndrome Pilosebaceous disorder 1 1 GLI3 (2) 0.25000 0.50000 2.598e-4 6.484e-4 192 Acromegaly Pituitary adenoma 1 1 AIP (2) 0.25000 0.50000 2.598e-4 6.484e-4 235 Acromegaly Pituitary gigantism 1 1 AIP (2) 0.25000 0.50000 2.598e-4 6.484e-4 235 Acroosteolysis Alagille syndrome 1 1 NOTCH2 (4) 0.25000 0.50000 2.598e-4 6.484e-4 Acroosteolysis Follicular cyst 1 1 NOTCH2 (3) 0.25000 0.50000 2.598e-4 6.484e-4 Acroosteolysis Myofibromatosis 1 1 PDGFRB (5) 0.25000 0.50000 2.598e-4 6.484e-4 Adrenoleukodystrophy Deafness, dystonia, and cerebral hypomyelination 1 1 ABCD1 (4) 0.25000 0.50000 2.598e-4 6.484e-4 Agenesis of corpus callosum Corpus callosum agenesis neuronopathy syndrome 1 1 SLC12A6 (4) 0.25000 0.50000 2.598e-4 6.484e-4 Aicardi syndrome Sveinsson chorioretinal atrophy 1 1 TEAD1 (4) 0.25000 0.50000 2.598e-4 6.484e-4 Alagille syndrome Follicular cyst 1 1 NOTCH2 (5) 0.25000 0.50000 2.598e-4 6.484e-4 Alpha-1 antichymotrypsin deficiency Hemolytic disease of fetus and newborn 1 1 RHD (2) 0.25000 0.50000 2.598e-4 6.484e-4 306 Alpha-1 antichymotrypsin deficiency Rh isoimmunization 1 0 RHD (1) 0.25000 0.50000 2.598e-4 6.484e-4 306 Amed syndrome Wernicke-korsakoff syndrome 1 0 ALDH2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 Ameloblastoma Anaplastic astrocytoma 1 1 BRAF (2) 0.25000 0.50000 2.598e-4 6.484e-4 Anaplastic astrocytoma Craniopharyngioma 1 1 BRAF (3) 0.25000 0.50000 2.598e-4 6.484e-4 Anaplastic astrocytoma Anaplastic oligodendroglioma 1 0 IDH2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 200 Angiomatoid fibrous histiocytoma Desmoplastic small round cell tumor 1 0 EWSR1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 Anisometropia Lipomatosis 1 1 PTEN (2) 0.25000 0.50000 2.598e-4 6.484e-4 317 Amyloid polyneuropathy Apolipoprotein a-i deficiency 1 1 APOA1 (3) 0.25000 0.50000 2.598e-4 6.484e-4 Colonic polyps Parkinson-dementia complex of guam 1 1 TRPM7 (2) 0.25000 0.50000 2.598e-4 6.484e-4 Colonic polyps macrothrombocytopenia, isolated 1 1 TRPM7 (2) 0.25000 0.50000 2.598e-4 6.484e-4 Combined cellular and humoral immune defects with granulomas Salla disease 1 1 RAG2 (3) 0.25000 0.50000 2.598e-4 6.484e-4 176 Combined deficiency of factor v and factor viii Factor v deficiency 1 1 LMAN1 (3) 0.25000 0.50000 2.598e-4 6.484e-4 Combined factor v and factor viii deficiency Factor v deficiency 1 1 LMAN1 (6) 0.25000 0.50000 2.598e-4 6.484e-4 Combined immunodeficiency with skin granulomas Salla disease 1 1 RAG2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 176 Combined saposin deficiency Pituitary adenoma 1 1 CDH23 (2) 0.25000 0.50000 2.598e-4 6.484e-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 6.484e-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 6.484e-4 Cone dystrophy, x-linked Cone monochromatism 1 1 OPN1MW (2) 0.25000 0.50000 2.598e-4 6.484e-4 217 Congenital asplenia Deletion 5q35 syndrome 1 1 NKX2-5 (3) 0.25000 0.50000 2.598e-4 6.484e-4 166 Congenital aural atresia Congenital vertical talus 1 1 TSHZ1 (7) 0.25000 0.50000 2.598e-4 6.484e-4 Congenital camptodactyly Congenital hypoplasia of femur 1 0 PLOD2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 56 Congenital exomphalos Currarino syndrome 1 1 PCSK5 (2) 0.25000 0.50000 2.598e-4 6.484e-4 109 Congenital exomphalos Sacral defect 1 1 PCSK5 (2) 0.25000 0.50000 2.598e-4 6.484e-4 109 Congenital hemangioma Cutis marmorata telangiectatica congenita 1 1 GNA11 (3) 0.25000 0.50000 2.598e-4 6.484e-4 65 Congenital hemangioma Port-wine stain 1 1 GNAQ (3) 0.25000 0.50000 2.598e-4 6.484e-4 65 Congenital hereditary endothelial dystrophy Corneal endothelial dystrophy 1 1 SLC4A11 (6) 0.25000 0.50000 2.598e-4 6.484e-4 87 Cenani-lenz syndrome Sclerosteosis 1 1 LRP4 (8) 0.25000 0.50000 2.598e-4 6.484e-4 Cerebellar malformation Senior-boichis syndrome 1 1 TMEM67 (3) 0.25000 0.50000 2.598e-4 6.484e-4 315 Cervical dysplasia Mitral valve disease 1 0 MTHFR (1) 0.25000 0.50000 2.598e-4 6.484e-4 60 Aphasia Cholesterol embolism 1 1 PLAT (2) 0.25000 0.50000 2.598e-4 6.484e-4 29 Cholesterol embolism Postictal aphasia 1 0 PLAT (1) 0.25000 0.50000 2.598e-4 6.484e-4 29 Chylomicron retention disease Senior-boichis syndrome 1 1 DCDC2 (3) 0.25000 0.50000 2.598e-4 6.484e-4 315 Coagulation factor deficiency syndrome Congenital factor xiii deficiency 1 1 F13B (3) 0.25000 0.50000 2.598e-4 6.484e-4 354 Coagulation factor deficiency syndrome Factor xiii deficiency 1 1 F13B (6) 0.25000 0.50000 2.598e-4 6.484e-4 354 Birk-barel syndrome Cataract-glaucoma syndrome 1 1 TRPM3 (2) 0.25000 0.50000 2.598e-4 6.484e-4 122 Birt-hogg-dube syndrome Potocki-lupski syndrome 1 1 FLCN (7) 0.25000 0.50000 2.598e-4 6.484e-4 285 Blast crisis Hyper-immunoglobulin syndrome 1 1 AICDA (2) 0.25000 0.50000 2.598e-4 6.484e-4 266 Bmpr1a-related juvenile polyposis juvenile polyposis syndrome 1 1 BMPR1A (2) 0.25000 0.50000 2.598e-4 6.484e-4 Boichis syndrome Cerebellar malformation 1 0 TMEM67 (1) 0.25000 0.50000 2.598e-4 6.484e-4 315 Boichis syndrome Chylomicron retention disease 1 0 DCDC2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 315 Bowed long bones Buruli ulcer 1 1 PLOD2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 56 Bowed long bones Congenital camptodactyly 1 0 PLOD2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 56 Bowed long bones Congenital hypoplasia of femur 1 0 PLOD2 (1) 0.25000 0.50000 2.598e-4 6.484e-4 56 Branchiooculofacial syndrome Branchiootic syndrome 1 1 EYA1 (6) 0.25000 0.50000 2.598e-4 6.484e-4 134 Branchiooculofacial syndrome Otofaciocervical syndrome 1 1 EYA1 (5) 0.25000 0.50000 2.598e-4 6.484e-4 134 Buruli ulcer Congenital camptodactyly 1 1 PLOD2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 56 Buruli ulcer Congenital hypoplasia of femur 1 1 PLOD2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 56 Calcium pyrophosphate deposition Craniometadiaphyseal dysplasia 1 1 ANKH (2) 0.25000 0.50000 2.598e-4 6.484e-4 208 Calcium pyrophosphate deposition Schwartz-lelek syndrome 1 1 ANKH (2) 0.25000 0.50000 2.598e-4 6.484e-4 208 Carbamoyl phosphate synthetase deficiency Hypoplastic anemia 1 1 CAD (2) 0.25000 0.50000 2.598e-4 6.484e-4 347 Carbamoyl phosphate synthetase deficiency Congenital hypoplastic anemia 1 0 CAD (1) 0.25000 0.50000 2.598e-4 6.484e-4 347 Cardiac rhythm disease Ectopic rhythm 1 1 SCN5A (3) 0.25000 0.50000 2.598e-4 6.484e-4 140 Cardiac rhythm disease Paroxysmal ventricular fibrillation 1 1 SCN5A (3) 0.25000 0.50000 2.598e-4 6.484e-4 140 Congenital scoliosis Crst syndrome 1 0 FBN1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 28 Corpus callosum agenesis Urethral syndrome 1 1 CDK5RAP2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 Cortical occipital malformations Developmental delay with language impairment and movement disorder 1 1 TBR1 (2) 0.25000 0.50000 2.598e-4 6.484e-4 220 Cortical occipital malformations Intellectual developmental disorder autism speech 1 1 TBR1 (3) 0.25000 0.50000 2.598e-4 6.484e-4 220 Craniometadiaphyseal dysplasia Schwartz-lelek syndrome 1 0 ANKH (1) 0.25000 0.50000 2.598e-4 6.484e-4 208 Ameloblastoma Craniopharyngioma 1 1 BRAF (2) 0.25000 0.50000 2.598e-4 6.484e-4 Cri-du-chat syndrome Tongue cancer 1 1 TERT (3) 0.25000 0.50000 2.598e-4 6.484e-4 1 Crst syndrome Dilatation of pulmonary artery 1 0 FBN1 (1) 0.25000 0.50000 2.598e-4 6.484e-4 28 Childhood-onset glut1 deficiency syndrome 2 Cryohydrocytosis 1 1 SLC2A1 (4) 0.25000 0.50000 2.598e-4 6.484e-4 Currarino syndrome Sacral defect 1 1 PCSK5 (2) 0.25000 0.50000 2.598e-4 6.484e-4 109 Deafness, digenic Senter syndrome 1 1 GJB2 (2) 0.25000 0.50000 2.598e-4 6.484e-4 68 Deafness, digenic Vohwinkel syndrome 1 1 GJB2 (4) 0.25000 0.50000 2.598e-4 6.484e-4 68 Deletion 5q35 syndrome Splenic hypoplasia 1 1 NKX2-5 (2) 0.25000 0.50000 2.598e-4 6.484e-4 166 Combined osteogenesis imperfecta and ehlers-danlos syndrome Dermatofibrosarcoma protuberans 1 1 COL1A1 (5) 0.25000 0.50000 2.598e-4 6.484e-4 93 Congenital myotonia Smith-lemli-opitz syndrome 1 1 CLCN1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Congenital pain insensitivity Congenital sensory neuropathy 1 1 NGF (2) 0.20000 1.00000 2.598e-4 6.484e-4 Congenital secretory diarrhea Duodenal atresia 1 0 GUCY2C (1) 0.20000 1.00000 2.598e-4 6.484e-4 275 Congenital sensory neuropathy Overactive bladder 1 1 NGF (2) 0.20000 1.00000 2.598e-4 6.484e-4 Corneal edema pitt-hopkins syndrome 1 1 TCF4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 283 Coronary medial sclerosis of infancy Crystal arthropathy 1 1 ENPP1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 207 Cortical dysgenesis with pontocerebellar hypoplasia Tubulinopathy 1 1 TUBB3 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Cortical dysplasia lethal osteosclerotic bone dysplasia 1 1 FAM20C (2) 0.20000 1.00000 2.598e-4 6.484e-4 220 Cramp-fasciculation syndrome Genetic peripheral neuropathy 1 1 TRPA1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Cramp-fasciculation syndrome Overactive bladder 1 1 TRPA1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Craniofrontonasal dysplasia X-linked intellectual disability-cerebellar hypoplasia syndrome 1 1 OPHN1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 76 Cryopyrin-associated periodic syndrome Infantile neurological cutaneous and articular syndrome 1 1 NLRP3 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Crystal arthropathy hypopigmentation-punctate palmoplantar keratoderma syndrome 1 1 ENPP1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 207 CYP1B1-related glaucoma with or without anterior segment dysgenesis Primary congenital glaucoma 1 1 CYP1B1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Anaplastic oligoastrocytoma D-2-hydroxyglutaric aciduria 1 1 IDH2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 D-2-hydroxyglutaric aciduria Gemistocytic astrocytoma 1 1 IDH2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 D-bifunctional protein deficiency Peroxisomal disorder 1 1 HSD17B4 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Dacryocystitis Multifocal osteomyelitis 1 0 IL1RN (1) 0.20000 1.00000 2.598e-4 6.484e-4 219 Deaf blind hypopigmentation syndrome Waardenburg-shah syndrome 1 1 SOX10 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Deafness with congenital heart defects and posterior embryotoxon Middle aortic syndrome 1 1 JAG1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Deafness-lymphedema-leukemia syndrome Primary graft dysfunction 1 1 GATA2 (3) 0.20000 1.00000 2.598e-4 6.484e-4 126 Delta zero thalassemia Delta-beta thalassemia 1 1 HBD (3) 0.20000 1.00000 2.598e-4 6.484e-4 Delta-sarcoglycan-related limb-girdle muscular dystrophy r6 Salivary gland disease 1 1 SGCD (2) 0.20000 1.00000 2.598e-4 6.484e-4 Delta-beta thalassemia Delta-thalassemia 1 1 HBD (3) 0.20000 1.00000 2.598e-4 6.484e-4 17,20-lyase deficiency Bile duct calculus 1 0 CYP17A1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 17q11.2 microduplication syndrome Middle aortic syndrome 1 1 NF1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 71 17q11.2 microduplication syndrome Neurofibromatosis 1 1 NF1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 71 17q21.31 microdeletion syndrome Dysgenesis of corpus callosum 1 1 KANSL1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 22q13.3 deletion syndrome Ventricular outflow obstruction 1 1 INS (2) 0.20000 1.00000 2.598e-4 6.484e-4 224 22q13.3 deletion syndrome phelan-mcdermid syndrome 1 1 SHANK3 (2) 0.20000 1.00000 2.598e-4 6.484e-4 224 2q37 microdeletion syndrome Chromosome 2q37 deletion syndrome 1 1 HDAC4 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Aapoai amyloidosis Visceral amyloidosis 1 1 APOA1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Aarskog-scott syndrome, x-linked Congenital foot deformity 1 1 FGD1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 30 Abcd syndrome Waardenburg-shah syndrome 1 1 EDNRB (3) 0.20000 1.00000 2.598e-4 6.484e-4 Acatalasia Ureteral calculi 1 1 CAT (4) 0.20000 1.00000 2.598e-4 6.484e-4 294 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 6.484e-4 30 Acrofacial dysostosis SF3B4-related acrofacial dysostosis 1 1 SF3B4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 233 Agat deficiency De toni-debre-fanconi syndrome 1 1 GATM (3) 0.20000 1.00000 2.598e-4 6.484e-4 Agat deficiency Fanconi renotubular syndrome 1 1 GATM (6) 0.20000 1.00000 2.598e-4 6.484e-4 ALS2-related motor neuron disease Hypertyrosinemia 1 1 ALS2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 199 Alys amyloidosis Visceral amyloidosis 1 0 LYZ (1) 0.20000 1.00000 2.598e-4 6.484e-4 128 Aminoacylase deficiency Becker nevus syndrome 1 1 ACTB (4) 0.20000 1.00000 2.598e-4 6.484e-4 115 Aminoacylase deficiency Congenital smooth muscle hamartoma 1 1 ACTB (3) 0.20000 1.00000 2.598e-4 6.484e-4 115 Aminoacylase deficiency Developmental malformations-deafness-dystonia syndrome 1 1 ACTB (4) 0.20000 1.00000 2.598e-4 6.484e-4 115 Aminoacylase deficiency Dystonia-deafness syndrome 1 1 ACTB (2) 0.20000 1.00000 2.598e-4 6.484e-4 115 ACTB-associated syndromic thrombocytopenia Aminoacylase deficiency 1 1 ACTB (2) 0.20000 1.00000 2.598e-4 6.484e-4 115 amyloidosis, hereditary systemic 6 Visceral amyloidosis 1 1 B2M (2) 0.20000 1.00000 2.598e-4 6.484e-4 128 amyotrophic lateral sclerosis type 1 Ureteral calculi 1 1 SOD1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 294 amyotrophic lateral sclerosis type 11 Micropenis 1 1 FIG4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 311 Anaplastic oligoastrocytoma Central nervous system disease 1 1 IDH2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Anaplastic oligoastrocytoma Combined d-2- and l-2-hydroxyglutaric aciduria 1 1 IDH2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Angel-shaped phalangoepiphyseal dysplasia Multiple synostoses syndrome 1 1 GDF5 (6) 0.20000 1.00000 2.598e-4 6.484e-4 Anhidrotic ectodermal dysplasia Craniofrontonasal dysplasia 1 1 EDA (2) 0.20000 1.00000 2.598e-4 6.484e-4 76 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 6.484e-4 30 Anodontia Severe neonatal spondylometaphyseal dysplasia 1 1 SBDS (2) 0.20000 1.00000 2.598e-4 6.484e-4 205 Anodontia craniofacial dysplasia - osteopenia syndrome 1 1 IRX5 (4) 0.20000 1.00000 2.598e-4 6.484e-4 205 Anodontia Tooth and nail syndrome 1 1 MSX1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 205 Anodontia Witkop syndrome 1 1 MSX1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 205 Anodontia tooth agenesis, selective, 1 1 1 MSX1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 205 Anonychia Campomelic dysplasia 1 1 SOX9 (6) 0.20000 1.00000 2.598e-4 6.484e-4 164 Anonychia Camptomelic dysplasia 1 1 SOX9 (3) 0.20000 1.00000 2.598e-4 6.484e-4 164 Anonychia Cooks syndrome 1 1 SOX9 (4) 0.20000 1.00000 2.598e-4 6.484e-4 164 Anonychia isolated Pierre-Robin syndrome 1 1 SOX9 (3) 0.20000 1.00000 2.598e-4 6.484e-4 164 Anonychia Dominant dystrophic epidermolysis bullosa with absence of skin 1 1 COL7A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 anterior segment dysgenesis 4 Rieger syndrome 1 1 PITX2 (3) 0.20000 1.00000 2.598e-4 6.484e-4 82 Anti-glomerular basement membrane disease Autoimmune pulmonary alveolar proteinosis 1 1 HLA-DRB1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 254 Anti-glomerular basement membrane disease Heerfordt syndrome 1 0 HLA-DRB1 (1) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-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 6.484e-4 254 Anti-nmda receptor encephalitis IFIH1-related type 1 interferonopathy 1 1 IFIH1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Anti-nmda receptor encephalitis Carbamazepine hypersensitivity 1 1 HLA-B (2) 0.20000 1.00000 2.598e-4 6.484e-4 179 Anti-nmda receptor encephalitis Thrombophlebitis 1 1 HLA-B (2) 0.20000 1.00000 2.598e-4 6.484e-4 179 Antisocial personality disorder Brunner syndrome 1 1 MAOA (5) 0.20000 1.00000 2.598e-4 6.484e-4 120 Antisocial personality disorder Separation anxiety disorder 1 0 DRD4 (1) 0.20000 1.00000 2.598e-4 6.484e-4 120 Antisocial personality disorder Colchicine resistance 1 1 ABCB1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 120 Apolipoprotein a-i amyloidosis Visceral amyloidosis 1 1 APOA1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Aprosencephaly methylcobalamin deficiency type cblE 1 1 MTRR (2) 0.20000 1.00000 2.598e-4 6.484e-4 155 Arginine vasopressin deficiency Neurogenic diabetes insipidus 1 1 AVP (3) 0.20000 1.00000 2.598e-4 6.484e-4 Arginine vasopressin deficiency Diabetes insipidus 1 1 AVP (2) 0.20000 1.00000 2.598e-4 6.484e-4 Arginine vasopressin deficiency Nephrogenic diabetes insipidus 1 1 AVP (3) 0.20000 1.00000 2.598e-4 6.484e-4 Arginine-glycine amidinotransferase deficiency De toni-debre-fanconi syndrome 1 1 GATM (3) 0.20000 1.00000 2.598e-4 6.484e-4 Arginine-glycine amidinotransferase deficiency Fanconi renotubular syndrome 1 1 GATM (6) 0.20000 1.00000 2.598e-4 6.484e-4 arterial calcification, generalized, of infancy, 1 Crystal arthropathy 1 1 ENPP1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 207 Arteriovenous hemangioma Bockenheimer syndrome 1 0 TEK (1) 0.20000 1.00000 2.598e-4 6.484e-4 257 Arteriovenous hemangioma Mucocutaneous venous malformations 1 1 TEK (2) 0.20000 1.00000 2.598e-4 6.484e-4 257 Arteritis Central retinal vein occlusion 1 1 PROC (2) 0.20000 1.00000 2.598e-4 6.484e-4 325 Arteritis hereditary thrombophilia due to congenital protein C deficiency 1 1 PROC (2) 0.20000 1.00000 2.598e-4 6.484e-4 325 Arthrogryposis with oculomotor limitation and retinal anomalies Gorlin syndrome 1 1 PIEZO2 (4) 0.20000 1.00000 2.598e-4 6.484e-4 25 Asymmetric septal hypertrophy Myosin storage myopathy 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 Asymmetric septal hypertrophy Biventricular noncompaction cardiomyopathy 1 0 MYH7 (1) 0.20000 1.00000 2.598e-4 6.484e-4 104 Asymmetric septal hypertrophy MYH7-related skeletal myopathy 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 Asymmetric septal hypertrophy dilated cardiomyopathy 1S 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 Ataxia with polyneuropathy Mitochondrial myopathy with sideroblastic anemia 1 0 ATP6 (1) 0.20000 1.00000 2.598e-4 6.484e-4 105 Atrial and intestinal dysrhythmia Chronobiology disorder 1 1 SGO1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 203 Atypical multiple mole melanoma syndrome Brain stem neoplasms 1 1 CDKN2A (3) 0.20000 1.00000 2.598e-4 6.484e-4 45 Auriculocondylar syndrome Urinary retention 1 1 EDN1 (7) 0.20000 1.00000 2.598e-4 6.484e-4 25 Autoinflammation, antibody deficiency, and immune dysregulation Cryopyrin-associated periodic syndrome 1 1 PLCG2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 autosomal dominant slowed nerve conduction velocity Genetic peripheral neuropathy 1 1 ARHGEF10 (2) 0.20000 1.00000 2.598e-4 6.484e-4 autosomal dominant slowed nerve conduction velocity Salivary gland disease 1 1 ARHGEF10 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Avoidant restrictive food intake disorder Bile duct calculus 1 1 APOE (2) 0.20000 1.00000 2.598e-4 6.484e-4 125 Basal cell nevus syndrome Culler-jones syndrome 1 1 GLI2 (3) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 169 BBS9-related ciliopathy Post-operative stroke 1 1 BBS9 (2) 0.20000 1.00000 2.598e-4 6.484e-4 30 Benign fasciculation-cramp syndrome Genetic peripheral neuropathy 1 0 TRPA1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Benign fasciculation-cramp syndrome Overactive bladder 1 1 TRPA1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Benign neonatal epilepsy fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 1 1 ATP1A2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Benign neonatal epilepsy hemiplegic migraine-developmental and epileptic encephalopathy spectrum 1 1 ATP1A2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Benign neonatal epilepsy neonatal-onset developmental and epileptic encephalopathy 1 1 KCNQ2 (4) 0.20000 1.00000 2.598e-4 6.484e-4 213 Benta disease Osteopenia 1 1 CARD11 (5) 0.20000 1.00000 2.598e-4 6.484e-4 335 Bestrophinopathy PRPH2-related retinopathy 1 1 PRPH2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Bestrophinopathy hemochromatosis type 5 1 1 FTH1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 415 Beta-aminoisobutyric aciduria Mild cognitive impairment 1 1 AGXT2 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Beta2-microglobulinic amyloidosis Visceral amyloidosis 1 1 B2M (2) 0.20000 1.00000 2.598e-4 6.484e-4 128 Dermatopathia pigmentosa reticularis Weber-cockayne syndrome 1 1 KRT14 (6) 0.20000 1.00000 2.598e-4 6.484e-4 270 Developmental delay with facial dysmorphism syndrome Discordant ventriculoarterial connection 1 1 MED13L (2) 0.20000 1.00000 2.598e-4 6.484e-4 56 Diabetes insipidus Hereditary arginine vasopressin deficiency 1 1 AVP (3) 0.20000 1.00000 2.598e-4 6.484e-4 Diabetes insipidus Eye pain 1 1 POMC (2) 0.20000 1.00000 2.598e-4 6.484e-4 Diffuse gastric and lobular breast cancer syndrome Patterned macular dystrophy 1 1 CTNNA1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Digenic hemochromatosis hemochromatosis type 3 1 1 TFR2 (3) 0.20000 1.00000 2.598e-4 6.484e-4 148 Digenic hemochromatosis hemochromatosis type 1 1 1 HFE (3) 0.20000 1.00000 2.598e-4 6.484e-4 Digenic hemochromatosis hemochromatosis type 2B 1 1 HAMP (3) 0.20000 1.00000 2.598e-4 6.484e-4 148 dilated cardiomyopathy 1L Salivary gland disease 1 1 SGCD (2) 0.20000 1.00000 2.598e-4 6.484e-4 dilated cardiomyopathy 2B Heimler syndrome 1 1 GATAD1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 141 Discordant ventriculoarterial connection Microvascular angina 1 1 MTHFR (2) 0.20000 1.00000 2.598e-4 6.484e-4 Discordant ventriculoarterial connection homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 1 MTHFR (2) 0.20000 1.00000 2.598e-4 6.484e-4 Discordant ventriculoarterial connection immunodeficiency 114, folate-responsive 1 1 SLC19A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 56 Anonychia Dominant dystrophic epidermolysis bullosa, albopapular type 1 0 COL7A1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Dopa-responsive dystonia GTP cyclohydrolase I deficiency 1 1 GCH1 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Dopa-responsive dystonia Intellectual developmental disorder language neurodegenerative 1 1 NR4A2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Dopamine transporter deficiency syndrome Mild cognitive impairment 1 1 SLC6A3 (3) 0.20000 1.00000 2.598e-4 6.484e-4 336 Doyne honeycomb retinal dystrophy PRPH2-related retinopathy 1 1 PRPH2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Doyne honeycomb retinal dystrophy Factor i deficiency 1 1 CFI (2) 0.20000 1.00000 2.598e-4 6.484e-4 32 Duplication of pituitary gland Gorlin syndrome 1 1 PTCH2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 25 Dysgenesis of corpus callosum koolen-de vries syndrome 1 1 KANSL1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Congenital idiopathic intestinal pseudoobstruction Dysgenesis of corpus callosum 1 1 FLNA (2) 0.20000 1.00000 2.598e-4 6.484e-4 42 Dysgenesis of corpus callosum Otopalatodigital spectrum disorder 1 1 FLNA (2) 0.20000 1.00000 2.598e-4 6.484e-4 42 Dysgenesis of corpus callosum Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.20000 1.00000 2.598e-4 6.484e-4 42 dyskeratosis congenita, autosomal dominant 2 Macrocytic anemia 1 1 TERT (2) 0.20000 1.00000 2.598e-4 6.484e-4 Becker nevus syndrome Dysphoric mood 1 1 ACTB (5) 0.20000 1.00000 2.598e-4 6.484e-4 115 Congenital smooth muscle hamartoma Dysphoric mood 1 1 ACTB (4) 0.20000 1.00000 2.598e-4 6.484e-4 115 Developmental malformations-deafness-dystonia syndrome Dysphoric mood 1 1 ACTB (5) 0.20000 1.00000 2.598e-4 6.484e-4 115 Dysphoric mood Dystonia-deafness syndrome 1 1 ACTB (3) 0.20000 1.00000 2.598e-4 6.484e-4 115 ACTB-associated syndromic thrombocytopenia Dysphoric mood 1 1 ACTB (3) 0.20000 1.00000 2.598e-4 6.484e-4 115 dystonia 27 Ullrich congenital muscular dystrophy 1 1 COL6A3 (7) 0.20000 1.00000 2.598e-4 6.484e-4 307 Dystonia, dopa-responsive, with or without hyperphenylalaninemia Ventricular outflow obstruction 1 1 INS (2) 0.20000 1.00000 2.598e-4 6.484e-4 Dystonia, dopa-responsive, with or without hyperphenylalaninemia GTP cyclohydrolase I deficiency 1 1 GCH1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 East syndrome Paroxysmal dystonic choreoathetosis 1 1 KCNJ10 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Encephalocele joubert syndrome 17 1 1 CPLANE1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 48 Endocrine neoplasms leukodystrophy, hypomyelinating, 25 1 1 TMEM163 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Bilateral parasagittal parieto-occipital polymicrogyria Micropenis 1 1 FIG4 (4) 0.20000 1.00000 2.598e-4 6.484e-4 311 Bile acid conjugation defect Hypercholanemia 1 1 BAAT (6) 0.20000 1.00000 2.598e-4 6.484e-4 Bile duct calculus Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Bile duct calculus Dysbetalipoproteinemia 1 1 APOE (2) 0.20000 1.00000 2.598e-4 6.484e-4 125 Bile duct calculus Serum bilirubin level 1 1 UGT1A1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Biliary-renal-neuro-skeletal syndrome Caroli disease 1 1 IFT56 (3) 0.20000 1.00000 2.598e-4 6.484e-4 74 Achondroplasia Bladder cancer 1 1 FGFR3 (3) 0.20000 1.00000 2.598e-4 6.484e-4 bleeding disorder, platelet-type, 21 Extraskeletal ewing sarcoma 1 1 FLI1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Bleeding esophageal varices Esophageal varices 1 0 SST (1) 0.20000 1.00000 2.598e-4 6.484e-4 340 Bmp4-related ocular growth disorder Sacral agenesis 1 1 BMP4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 27 Bone marrow diseases Revesz debuse syndrome 1 1 TINF2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 345 Bone marrow diseases Revesz syndrome 1 1 TINF2 (6) 0.20000 1.00000 2.598e-4 6.484e-4 345 Bone marrow diseases dyskeratosis congenita, autosomal dominant 3 1 1 TINF2 (3) 0.20000 1.00000 2.598e-4 6.484e-4 345 Bone mineral density quantitative trait locus Worth syndrome 1 1 LRP5 (4) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 123 Bone mineral density quantitative trait locus LRP5-related exudative vitreoretinopathy 1 1 LRP5 (4) 0.20000 1.00000 2.598e-4 6.484e-4 123 Bone mineral density quantitative trait locus X-linked osteoporosis 1 1 PLS3 (6) 0.20000 1.00000 2.598e-4 6.484e-4 123 Borjeson-forssman-lehmann syndrome Congenital fusion of ribs 1 1 PHF6 (7) 0.20000 1.00000 2.598e-4 6.484e-4 418 Brain stem neoplasms Trisomy 1 0 CDKN2A (1) 0.20000 1.00000 2.598e-4 6.484e-4 45 Brain stem neoplasms melanoma-pancreatic cancer syndrome 1 1 CDKN2A (2) 0.20000 1.00000 2.598e-4 6.484e-4 45 Brain stem neoplasms Intellectual developmental disorder growth other organ 1 1 PPM1D (3) 0.20000 1.00000 2.598e-4 6.484e-4 45 Brain stem neoplasms melanoma, cutaneous malignant, susceptibility to, 3 1 1 CDK4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Bronchiolitis Interstitial systitis 1 0 ADRB2 (1) 0.20000 1.00000 2.598e-4 6.484e-4 163 Budd-chiari syndrome Congenital factor v deficiency 1 1 F5 (5) 0.20000 1.00000 2.598e-4 6.484e-4 84 Budd-chiari syndrome East texas bleeding disorder 1 1 F5 (5) 0.20000 1.00000 2.598e-4 6.484e-4 84 Bulbo-spinal atrophy, x-linked Male breast neoplasms 1 1 AR (2) 0.20000 1.00000 2.598e-4 6.484e-4 204 Bundle branch block Intellectual developmental disorder expressive speech dysmorphic 1 1 SETBP1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 341 Bundle branch block Schinzel-Giedion syndrome 1 1 SETBP1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 341 Camptocormia Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 1 1 RRM2B (3) 0.20000 1.00000 2.598e-4 6.484e-4 Camptocormia Myosin storage myopathy 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 Biventricular noncompaction cardiomyopathy Camptocormia 1 0 MYH7 (1) 0.20000 1.00000 2.598e-4 6.484e-4 104 Camptocormia MYH7-related skeletal myopathy 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 Camptocormia dilated cardiomyopathy 1S 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 Carasil syndrome Cerebral microangiopathy 1 1 HTRA1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Carcinoid syndrome Carney-stratakis syndrome 1 1 SDHD (4) 0.20000 1.00000 2.598e-4 6.484e-4 78 Carcinoid tumor Delpire-mcneill syndrome 1 1 SLC12A2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Carcinoma in situ Pericardial effusion 1 1 PTGS2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 215 Cardiac anomalies - developmental delay - facial dysmorphism syndrome Discordant ventriculoarterial connection 1 1 MED13L (3) 0.20000 1.00000 2.598e-4 6.484e-4 56 Cardiac injury quebec platelet disorder 1 1 PLAU (3) 0.20000 1.00000 2.598e-4 6.484e-4 29 Cardiac injury dilated cardiomyopathy 1D 1 1 TNNT2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 29 Caroli disease Liver cyst 1 1 PKD1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Caroli disease Congenital hypoplasia of aortic arch 1 1 PKHD1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 74 Caroli disease Periportal fibrosis 1 1 PKHD1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 74 Carotid intima-media thickness Chronobiology disorder 1 1 PPARG (2) 0.20000 1.00000 2.598e-4 6.484e-4 cataract 50 with or without glaucoma Mulibrey nanism 1 1 TRPM3 (2) 0.20000 1.00000 2.598e-4 6.484e-4 122 Cole disease Crystal arthropathy 1 1 ENPP1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 207 Autoimmune polyendocrine syndrome Collagenous colitis 1 1 HLA-DQA1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 1 Collagenous colitis Esophageal achalasia 1 1 HLA-DQA1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 1 Colorectal cancer susceptibility POLD1-related polyposis and colorectal cancer syndrome 1 1 POLD1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 356 Colorectal cancer susceptibility mandibular hypoplasia-deafness-progeroid syndrome 1 1 POLD1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 356 Colorectal cancer susceptibility POLE-related polyposis and colorectal cancer syndrome 1 1 POLE (3) 0.20000 1.00000 2.598e-4 6.484e-4 Combined d-2- and l-2-hydroxyglutaric aciduria Gemistocytic astrocytoma 1 1 IDH2 (2) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 Combined molybdoflavoprotein enzyme deficiency idiopathic multidrug-resistant nephrotic syndrome 1 1 DAAM2 (2) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-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 6.484e-4 Concussion PTEN hamartoma tumor syndrome 1 1 PTEN (2) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 Acro-dermo-ungual-lacrimal-tooth syndrome Congenital foot deformity 1 1 TP63 (2) 0.20000 1.00000 2.598e-4 6.484e-4 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Congenital foot deformity 1 1 TP63 (5) 0.20000 1.00000 2.598e-4 6.484e-4 30 Congenital fusion of ribs Congenital hypoplasia of penis 1 0 PHF6 (1) 0.20000 1.00000 2.598e-4 6.484e-4 418 Congenital glucokinase-related hyperinsulinism Intestinal disaccharide malabsorption 1 1 GCK (2) 0.20000 1.00000 2.598e-4 6.484e-4 Clapo syndrome Congenital hemihypertrophy 1 1 PIK3CA (3) 0.20000 1.00000 2.598e-4 6.484e-4 53 Cloves syndrome Congenital hemihypertrophy 1 1 PIK3CA (3) 0.20000 1.00000 2.598e-4 6.484e-4 53 Congenital hemihypertrophy Congenital intestinal duplication 1 0 PIK3CA (1) 0.20000 1.00000 2.598e-4 6.484e-4 53 Congenital hernia of foramen of bochdalek Doyne honeycomb retinal dystrophy 1 1 EFEMP1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 Congenital hypothyroidism due to absence of thyroid gland Interrupted aortic arch 1 0 NKX2-5 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Congenital membranous nephropathy Cryopyrin-associated periodic syndrome 1 1 MME (3) 0.20000 1.00000 2.598e-4 6.484e-4 Caudate atrophy Cerebral cortical atrophy 1 0 TYROBP (1) 0.20000 1.00000 2.598e-4 6.484e-4 348 Cecal neoplasms Intellectual developmental disorder dysmorphic ocular microcephaly peripheral 1 1 CTNNB1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 81 Cecal neoplasms CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy 1 1 CTNNB1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 81 Central apnea Chromosome xq28 duplication syndrome 1 1 MECP2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Central nervous system demyelinating disease Spinocerebellar ataxia blindness deafness syndrome 1 1 PEX6 (2) 0.20000 1.00000 2.598e-4 6.484e-4 141 Central nervous system demyelinating disease megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 MLC1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 141 Central nervous system disease Paraneoplastic syndrome 1 0 EPO (1) 0.20000 1.00000 2.598e-4 6.484e-4 163 Central nervous system disease Esophageal stenosis 1 1 SOD2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 163 Central nervous system disease Gemistocytic astrocytoma 1 1 IDH2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 CEP290-related ciliopathy Encephalocele 1 1 CEP290 (2) 0.20000 1.00000 2.598e-4 6.484e-4 48 Cerebral cortical atrophy Hereditary axonal motor and sensory neuropathy 1 0 BICD2 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Cerebral cortical atrophy Nasu-hakola disease 1 1 TYROBP (2) 0.20000 1.00000 2.598e-4 6.484e-4 348 Cerebral embolism Idiopathic infantile hypercalcemia 1 1 KL (2) 0.20000 1.00000 2.598e-4 6.484e-4 Cerebral embolism Tumoral calcinosis 1 1 KL (4) 0.20000 1.00000 2.598e-4 6.484e-4 351 Cerebral microangiopathy Familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 COL4A1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 33 Cerebral microangiopathy Colpocephaly 1 1 COL4A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 33 Cerebral microangiopathy Retinal arterial tortuosity 1 1 COL4A1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 33 Cerebral microangiopathy COL4A1-related disorder 1 1 COL4A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 33 Cerebroretinal microangiopathy with calcifications and cysts Congenital chromosomal disease 1 1 POT1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Cerebrovascular trauma Coronary syndrome 1 1 PHACTR1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Cervical lymphadenopathy Middle aortic syndrome 1 0 NF1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 71 Cervical lymphadenopathy Neurofibromatosis 1 1 NF1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 71 Charcot-Marie-Tooth disease axonal type 2F Genetic peripheral neuropathy 1 1 HSPB1 (2) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 Charcot-Marie-Tooth disease type 2A1 Congenital hemihypertrophy 1 1 KIF1B (2) 0.20000 1.00000 2.598e-4 6.484e-4 53 Charcot-Marie-Tooth disease type 2T Cryopyrin-associated periodic syndrome 1 1 MME (3) 0.20000 1.00000 2.598e-4 6.484e-4 Charcot-Marie-Tooth disease type 4C Congenital hemihypertrophy 1 1 SH3TC2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 53 CHEK2-related cancer predisposition Male breast neoplasms 1 1 CHEK2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Camptocormia Childhood myocerebrohepatopathy spectrum 1 0 POLG (1) 0.20000 1.00000 2.598e-4 6.484e-4 Chromophobe renal cell carcinoma Clear cell papillary renal cell carcinoma 1 0 HNF1A (1) 0.20000 1.00000 2.598e-4 6.484e-4 Chromosome xq28 duplication syndrome Neonatal encephalopathy 1 1 MECP2 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Chromosome xq28 duplication syndrome Early-onset parkinsonism-intellectual disability syndrome 1 1 RAB39B (5) 0.20000 1.00000 2.598e-4 6.484e-4 Chromosome xq28 duplication syndrome Parkinsonism with cognitive impairment 1 1 RAB39B (3) 0.20000 1.00000 2.598e-4 6.484e-4 Chromosome xq28 duplication syndrome Waisman syndrome 1 1 RAB39B (3) 0.20000 1.00000 2.598e-4 6.484e-4 Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Congenital secretory diarrhea 1 1 GUCY2C (2) 0.20000 1.00000 2.598e-4 6.484e-4 275 Chronic pain Congenital pain insensitivity 1 1 SCN9A (2) 0.20000 1.00000 2.598e-4 6.484e-4 171 Chronic pain Paroxysmal extreme pain disorder 1 1 SCN9A (5) 0.20000 1.00000 2.598e-4 6.484e-4 171 Chronobiology disorder Patent ductus venosus 1 1 AHR (2) 0.20000 1.00000 2.598e-4 6.484e-4 203 Chronobiology disorder Ureteral neoplasms 1 1 AHR (2) 0.20000 1.00000 2.598e-4 6.484e-4 203 Chronobiology disorder Urinary bladder calculi 1 1 AHR (2) 0.20000 1.00000 2.598e-4 6.484e-4 203 Chronobiology disorder Urinary bladder stone 1 1 AHR (2) 0.20000 1.00000 2.598e-4 6.484e-4 203 Chuvash erythrocytosis Von hippel-lindau syndrome 1 1 VHL (8) 0.20000 1.00000 2.598e-4 6.484e-4 403 Cinca syndrome Cryopyrin-associated periodic syndrome 1 1 NLRP3 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Cinca syndrome Pericardial effusion 1 1 NLRP3 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Claudication Mild cognitive impairment 1 0 AGXT2 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Clear cell papillary renal cell carcinoma Waardenburg syndrome type 2 1 1 MITF (2) 0.20000 1.00000 2.598e-4 6.484e-4 Cataract-corneal dystrophy syndrome Cleft eyelid 1 0 PAX6 (1) 0.20000 1.00000 2.598e-4 6.484e-4 25 Cleft eyelid PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.20000 1.00000 2.598e-4 6.484e-4 25 Cleft lip and cleft of alveolar process of maxilla Limb-mammary syndrome 1 1 TP63 (5) 0.20000 1.00000 2.598e-4 6.484e-4 30 Cleft lip and cleft of alveolar process of maxilla Rudiger syndrome 1 0 TP63 (1) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 30 Cobalamin metabolism disorder Homocystinuria with megaloblastic anemia 1 1 MMADHC (3) 0.20000 1.00000 2.598e-4 6.484e-4 Lateral temporal lobe epilepsy Sacroiliac arthritis 1 0 RELN (1) 0.20000 1.00000 2.598e-4 6.484e-4 209 Lateral temporal lobe epilepsy Sacroiliac joint synovitis 1 0 RELN (1) 0.20000 1.00000 2.598e-4 6.484e-4 209 legius syndrome Neurofibromatosis 1 1 SPRED1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 71 legius syndrome Neurofibromatosis-noonan syndrome 1 1 SPRED1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 71 Liddle syndrome renal tubular dysgenesis of genetic origin 1 1 REN (3) 0.20000 1.00000 2.598e-4 6.484e-4 70 Liddle syndrome pseudohypoaldosteronism, type IB1, autosomal recessive 1 1 SCNN1A (7) 0.20000 1.00000 2.598e-4 6.484e-4 70 Brain tumor-polyposis syndrome Macrocytic anemia 1 1 APC (2) 0.20000 1.00000 2.598e-4 6.484e-4 37 Familial adenomatous polyposis Macrocytic anemia 1 1 APC (4) 0.20000 1.00000 2.598e-4 6.484e-4 37 gastric adenocarcinoma and proximal polyposis of the stomach Macrocytic anemia 1 1 APC (3) 0.20000 1.00000 2.598e-4 6.484e-4 37 Majeed syndrome Multifocal osteomyelitis 1 1 LPIN2 (6) 0.20000 1.00000 2.598e-4 6.484e-4 219 Male breast neoplasms Partial androgen insensitivity syndrome 1 1 AR (4) 0.20000 1.00000 2.598e-4 6.484e-4 204 Emery dreifuss muscular dystrophy Mandibuloacral dysplasia 1 1 LMNA (7) 0.20000 1.00000 2.598e-4 6.484e-4 83 Mandibuloacral dysplasia Severe lipodystrophic laminopathy 1 1 LMNA (6) 0.20000 1.00000 2.598e-4 6.484e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Mandibuloacral dysplasia 1 1 LMNA (6) 0.20000 1.00000 2.598e-4 6.484e-4 83 Metaphyseal enchondromatosis Paroxysmal extreme pain disorder 1 0 IDH1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 171 methylcobalamin deficiency type cblE Neural tube defects, folate-sensitive 1 1 MTRR (2) 0.20000 1.00000 2.598e-4 6.484e-4 155 methylcobalamin deficiency type cblG Neural tube defects, folate-sensitive 1 1 MTR (2) 0.20000 1.00000 2.598e-4 6.484e-4 155 Intestinal pseudo-obstruction microcephaly with lissencephaly and/or hydranencephaly 1 1 NDE1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Cleft eyelid microphthalmia, isolated, with coloboma 7 1 1 ABCB6 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Microspherophakia Primary congenital glaucoma 1 1 LTBP2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Microspherophakia Weill-marchesani syndrome 1 1 LTBP2 (7) 0.20000 1.00000 2.598e-4 6.484e-4 Middle aortic syndrome Watson syndrome 1 1 NF1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 71 Alport syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome 1 1 AMMECR1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 91 Mild cognitive impairment SLC6A3-related dopamine transporter deficiency syndrome 1 1 SLC6A3 (2) 0.20000 1.00000 2.598e-4 6.484e-4 336 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Sengers syndrome 1 1 SLC25A4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 276 mucopolysaccharidosis type 3A Sanfilippo syndrome 1 1 SGSH (2) 0.20000 1.00000 2.598e-4 6.484e-4 147 mucopolysaccharidosis type 3B Sanfilippo syndrome 1 1 NAGLU (2) 0.20000 1.00000 2.598e-4 6.484e-4 147 mucopolysaccharidosis type 3C Sanfilippo syndrome 1 1 HGSNAT (2) 0.20000 1.00000 2.598e-4 6.484e-4 147 mucopolysaccharidosis type 3D Sanfilippo syndrome 1 1 GNS (2) 0.20000 1.00000 2.598e-4 6.484e-4 147 Multifocal osteomyelitis Sclerosis 1 1 IL1RN (2) 0.20000 1.00000 2.598e-4 6.484e-4 219 Dysgenesis of corpus callosum multiple congenital anomalies-neurodevelopmental syndrome, x-linked 1 1 OTUD5 (2) 0.20000 1.00000 2.598e-4 6.484e-4 42 Arteriovenous hemangioma TEK-related primary glaucoma 1 1 TEK (2) 0.20000 1.00000 2.598e-4 6.484e-4 257 17q23.1q23.2 microdeletion syndrome Tetra-amelia syndrome 1 1 TBX4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 27 Amelia Tetra-amelia syndrome 1 1 TBX4 (4) 0.20000 1.00000 2.598e-4 6.484e-4 27 Chromosome 17q23.1-q23.2 duplication syndrome Tetra-amelia syndrome 1 1 TBX4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 27 Coxopodopatellar syndrome Tetra-amelia syndrome 1 1 TBX4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 27 Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension Tetra-amelia syndrome 1 1 TBX4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 27 Mandibuloacral dysplasia Tight skin contracture syndrome 1 1 ZMPSTE24 (7) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-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 6.484e-4 TUBB3-related tubulinopathy Tubulinopathy 1 1 TUBB3 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Congenital benign spinal muscular atrophy Urination disorders 1 1 TRPV4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 218 Brachyrachia Urination disorders 1 1 TRPV4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 218 Digital arthropathy-brachydactyly, familial Urination disorders 1 1 TRPV4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 218 Parastremmatic dwarfism Urination disorders 1 1 TRPV4 (5) 0.20000 1.00000 2.598e-4 6.484e-4 218 Scapuloperoneal spinal muscular atrophy Urination disorders 1 1 TRPV4 (6) 0.20000 1.00000 2.598e-4 6.484e-4 218 Bilateral multicystic dysplastic kidney Uterine cancer 1 1 HNF1B (2) 0.20000 1.00000 2.598e-4 6.484e-4 145 Renal dysplasia Uterine cancer 1 1 HNF1B (2) 0.20000 1.00000 2.598e-4 6.484e-4 145 Giant cell tumor of tendon sheath Uterine cancer 1 1 HNF1B (2) 0.20000 1.00000 2.598e-4 6.484e-4 145 Multicystic dysplastic kidney Uterine cancer 1 1 HNF1B (3) 0.20000 1.00000 2.598e-4 6.484e-4 145 Urination disorders Vitamin e deficiency 1 1 TTPA (4) 0.20000 1.00000 2.598e-4 6.484e-4 Waardenburg syndrome type 2 Waardenburg-shah syndrome 1 1 MITF (3) 0.20000 1.00000 2.598e-4 6.484e-4 186 Waardenburg syndrome type 4A Waardenburg-shah syndrome 1 1 EDNRB (3) 0.20000 1.00000 2.598e-4 6.484e-4 Waardenburg syndrome type 4B Waardenburg-shah syndrome 1 1 EDN3 (3) 0.20000 1.00000 2.598e-4 6.484e-4 186 Waardenburg syndrome type 4C Waardenburg-shah syndrome 1 1 SOX10 (3) 0.20000 1.00000 2.598e-4 6.484e-4 11p partial monosomy syndrome Wagr syndrome 1 1 WT1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 86 Denys drash syndrome Wagr syndrome 1 1 WT1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 86 Drash syndrome Wagr syndrome 1 1 WT1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 86 Congenital pectus carinatum Weill-marchesani syndrome 1 1 FBN1 (7) 0.20000 1.00000 2.598e-4 6.484e-4 28 Coronary artery dissection Weill-marchesani syndrome 1 1 FBN1 (7) 0.20000 1.00000 2.598e-4 6.484e-4 28 Emery dreifuss muscular dystrophy Werner syndrome 1 1 LMNA (4) 0.20000 1.00000 2.598e-4 6.484e-4 83 Severe lipodystrophic laminopathy Werner syndrome 1 1 LMNA (4) 0.20000 1.00000 2.598e-4 6.484e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Werner syndrome 1 1 LMNA (4) 0.20000 1.00000 2.598e-4 6.484e-4 83 Lipoatrophic diabetes mellitus Werner syndrome 1 1 LMNA (3) 0.20000 1.00000 2.598e-4 6.484e-4 83 Malouf syndrome Werner syndrome 1 1 LMNA (3) 0.20000 1.00000 2.598e-4 6.484e-4 83 Cleft lip and cleft of alveolar process of maxilla Witkop syndrome 1 1 MSX1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Bladder cancer Woolly hair nevus 1 1 HRAS (2) 0.20000 1.00000 2.598e-4 6.484e-4 17 Penile neoplasms Woolly hair nevus 1 1 HRAS (2) 0.20000 1.00000 2.598e-4 6.484e-4 17 X-linked erythropoietic protoporphyria X-linked sideroblastic anemia 1 1 ALAS2 (7) 0.20000 1.00000 2.598e-4 6.484e-4 Arts syndrome X-linked nonsyndromic hearing loss 1 1 PRPS1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 253 Prpp synthetase superactivity X-linked nonsyndromic hearing loss 1 1 PRPS1 (3) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 253 phosphoribosylpyrophosphate synthetase superactivity X-linked nonsyndromic hearing loss 1 1 PRPS1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 253 Keratitis ichthyosis hearing loss syndrome Xeroderma 1 1 GJB2 (3) 0.20000 1.00000 2.598e-4 6.484e-4 68 Bart-pumphrey syndrome Xeroderma 1 1 GJB2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 68 Waardenburg-shah syndrome Yemenite deaf-blind hypopigmentation syndrome 1 1 SOX10 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Chromosome 8p23.1 monosomy Yorifuji okuno syndrome 1 0 GATA4 (1) 0.20000 1.00000 2.598e-4 6.484e-4 106 Congenital pulmonary valve atresia Yorifuji okuno syndrome 1 0 GATA4 (1) 0.20000 1.00000 2.598e-4 6.484e-4 106 Testicular anomaly with congenital heart disease Yorifuji okuno syndrome 1 1 GATA4 (5) 0.20000 1.00000 2.598e-4 6.484e-4 106 Overactive bladder Urinary retention 1 0 EDN1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Pachyonychia congenita Sebocystomatosis 1 1 KRT17 (6) 0.20000 1.00000 2.598e-4 6.484e-4 164 Cataract-corneal dystrophy syndrome Paranoid schizophrenia 1 0 PAX6 (1) 0.20000 1.00000 2.598e-4 6.484e-4 25 Paranoid schizophrenia PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.20000 1.00000 2.598e-4 6.484e-4 25 Paroxysmal dystonia Paroxysmal dystonic choreoathetosis 1 1 PRRT2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 85 Chromosome 17q23.1-q23.2 deletion syndrome Paroxysmal dystonic choreoathetosis 1 1 SLC2A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Familial infantile convulsions with paroxysmal choreoathetosis Paroxysmal nonkinesigenic dyskinesia 1 1 PRRT2 (4) 0.20000 1.00000 2.598e-4 6.484e-4 85 Patterned macular dystrophy PRPH2-related retinopathy 1 1 PRPH2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Adrenocortical carcinoma Penile neoplasms 1 1 TP53 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Choroid plexus carcinoma Penile neoplasms 1 1 TP53 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Cardiac tamponade Pericardial effusion 1 1 PLAT (2) 0.20000 1.00000 2.598e-4 6.484e-4 Pericardial effusion Urinary bladder neck obstruction 1 1 PTGS2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 215 Peroxisomal disorder phytanoyl-CoA hydroxylase deficiency 1 1 PHYH (2) 0.20000 1.00000 2.598e-4 6.484e-4 Peroxisomal disorder peroxisome biogenesis disorder due to PEX1 defect 1 1 PEX1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Heimler syndrome peroxisome biogenesis disorder due to PEX1 defect 1 1 PEX1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 141 platelet-type bleeding disorder 18 Thrombasthenia 1 1 RASGRP2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 67 POLR1C-related disorder Treacher collins syndrome 1 1 POLR1C (5) 0.20000 1.00000 2.598e-4 6.484e-4 Myosin storage myopathy Polymorphic ventricular tachycardia 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 Biventricular noncompaction cardiomyopathy Polymorphic ventricular tachycardia 1 0 MYH7 (1) 0.20000 1.00000 2.598e-4 6.484e-4 104 MYH7-related skeletal myopathy Polymorphic ventricular tachycardia 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-4 104 dilated cardiomyopathy 1S Polymorphic ventricular tachycardia 1 1 MYH7 (2) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 Acro-dermo-ungual-lacrimal-tooth syndrome Post-operative stroke 1 1 TP63 (2) 0.20000 1.00000 2.598e-4 6.484e-4 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Post-operative stroke 1 1 TP63 (5) 0.20000 1.00000 2.598e-4 6.484e-4 30 Limb-mammary syndrome Post-operative stroke 1 1 TP63 (6) 0.20000 1.00000 2.598e-4 6.484e-4 30 Post-operative stroke Rudiger syndrome 1 1 TP63 (2) 0.20000 1.00000 2.598e-4 6.484e-4 30 Post-operative stroke Sweat gland neoplasm 1 1 TP63 (2) 0.20000 1.00000 2.598e-4 6.484e-4 30 Pregnancy disorder silver-russell syndrome 3 1 1 IGF2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Pregnancy disorder Refractory anemia 1 1 TNF (2) 0.20000 1.00000 2.598e-4 6.484e-4 Bockenheimer syndrome Primary congenital glaucoma 1 1 TEK (2) 0.20000 1.00000 2.598e-4 6.484e-4 Mucocutaneous venous malformations Primary congenital glaucoma 1 1 TEK (3) 0.20000 1.00000 2.598e-4 6.484e-4 Congenital pain insensitivity Primary erythromelalgia 1 1 SCN9A (2) 0.20000 1.00000 2.598e-4 6.484e-4 171 Paroxysmal extreme pain disorder Primary erythromelalgia 1 1 SCN9A (5) 0.20000 1.00000 2.598e-4 6.484e-4 171 Bladder cancer Retinoblastoma 1 1 RB1 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Diabetes insipidus Rhabdomyoma 1 1 POMC (2) 0.20000 1.00000 2.598e-4 6.484e-4 Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Rieger syndrome 1 1 COL4A1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Colpocephaly Rieger syndrome 1 0 COL4A1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Discordant ventriculoarterial connection Right isomerism 1 1 GDF1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 56 Rieger syndrome Ring dermoid of cornea 1 1 PITX2 (6) 0.20000 1.00000 2.598e-4 6.484e-4 82 17q23.1q23.2 microdeletion syndrome Sacral agenesis 1 1 TBX4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 27 Amelia Sacral agenesis 1 1 TBX4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 27 Chromosome 17q23.1-q23.2 duplication syndrome Sacral agenesis 1 0 TBX4 (1) 0.20000 1.00000 2.598e-4 6.484e-4 27 Coxopodopatellar syndrome Sacral agenesis 1 1 TBX4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 27 Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension Sacral agenesis 1 1 TBX4 (2) 0.20000 1.00000 2.598e-4 6.484e-4 27 Diabetes insipidus Sacroiliitis 1 1 POMC (2) 0.20000 1.00000 2.598e-4 6.484e-4 Camptocormia Schilder disease 1 1 POLG (2) 0.20000 1.00000 2.598e-4 6.484e-4 Anonychia Sebocystomatosis 1 1 KRT17 (3) 0.20000 1.00000 2.598e-4 6.484e-4 164 Benign neonatal epilepsy self-limited familial neonatal epilepsy 1 1 KCNQ3 (3) 0.20000 1.00000 2.598e-4 6.484e-4 213 Sengers syndrome Triokinase and fmn cyclase deficiency 1 1 TKFC (5) 0.20000 1.00000 2.598e-4 6.484e-4 276 Bladder cancer Splenic neoplasms 1 1 HRAS (2) 0.20000 1.00000 2.598e-4 6.484e-4 17 Penile neoplasms Splenic neoplasms 1 0 HRAS (1) 0.20000 1.00000 2.598e-4 6.484e-4 17 Cleft lip and cleft of alveolar process of maxilla Sweat gland neoplasm 1 1 TP63 (2) 0.20000 1.00000 2.598e-4 6.484e-4 30 Greither disease Palmoplantar keratoderma with congenital alopecia 1 1 GJA1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 107 Greither disease Peripheral neuropathy with sensorineural hearing impairment syndrome 1 0 GJB3 (1) 0.20000 1.00000 2.598e-4 6.484e-4 hawkinsinuria Hypertyrosinemia 1 1 HPD (2) 0.20000 1.00000 2.598e-4 6.484e-4 hawkinsinuria Tyrosinemia 1 1 HPD (6) 0.20000 1.00000 2.598e-4 6.484e-4 Alport syndrome, x-linked hearing loss, X-linked 6 1 1 COL4A6 (2) 0.20000 1.00000 2.598e-4 6.484e-4 91 hearing loss, X-linked 6 X-linked nonsyndromic hearing loss 1 1 COL4A6 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Heimler syndrome Spinocerebellar ataxia blindness deafness syndrome 1 1 PEX6 (4) 0.20000 1.00000 2.598e-4 6.484e-4 141 Hemifacial microsomia T-cell immunodeficiency 1 1 FOXI3 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Hemihyperplasia Pregnancy disorder 1 0 IGF2 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Hemihyperplasia Hepatoblastoma 1 1 IGF2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Dysphasia hemiplegic migraine-developmental and epileptic encephalopathy spectrum 1 1 ATP1A2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 hemochromatosis type 1 Variegate porphyria 1 1 HFE (2) 0.20000 1.00000 2.598e-4 6.484e-4 251 Digenic hemochromatosis hemochromatosis type 2A 1 1 HJV (3) 0.20000 1.00000 2.598e-4 6.484e-4 148 Delta-beta thalassemia Hemoglobin lepore beta thalassemia 1 1 HBD (3) 0.20000 1.00000 2.598e-4 6.484e-4 Delta-beta thalassemia Hemoglobinopathy toms river 1 1 HBG2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 18 Hepatic ductular hypoplasia Middle aortic syndrome 1 0 JAG1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Hepatoblastoma silver-russell syndrome 3 1 1 IGF2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Hepatoblastoma Intellectual developmental disorder dysmorphic ocular microcephaly peripheral 1 1 CTNNB1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 81 CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Hepatoblastoma 1 1 CTNNB1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 81 Hereditary arginine vasopressin deficiency Neurogenic diabetes insipidus 1 1 AVP (4) 0.20000 1.00000 2.598e-4 6.484e-4 Hereditary arginine vasopressin deficiency Nephrogenic diabetes insipidus 1 1 AVP (3) 0.20000 1.00000 2.598e-4 6.484e-4 Hereditary continuous muscle fiber activity Paroxysmal dystonic choreoathetosis 1 0 KCNA1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 85 Hereditary continuous muscle fiber activity Paroxysmal nonkinesigenic dyskinesia 1 0 KCNA1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 85 Congenital pain insensitivity hereditary sensory and autonomic neuropathy type 7 1 1 SCN11A (2) 0.20000 1.00000 2.598e-4 6.484e-4 171 hereditary sensory and autonomic neuropathy type 7 Paroxysmal extreme pain disorder 1 1 SCN11A (2) 0.20000 1.00000 2.598e-4 6.484e-4 171 hereditary spastic paraplegia 8 Ritscher-schinzler syndrome 1 1 WASHC5 (6) 0.20000 1.00000 2.598e-4 6.484e-4 Homocystinuria with megaloblastic anemia methylcobalamin deficiency type cblE 1 1 MTRR (4) 0.20000 1.00000 2.598e-4 6.484e-4 155 Homocystinuria with megaloblastic anemia methylcobalamin deficiency type cblG 1 1 MTR (2) 0.20000 1.00000 2.598e-4 6.484e-4 155 Houge janssens syndrome Intellectual developmental disorder growth behavioral 1 1 PPP2R5D (3) 0.20000 1.00000 2.598e-4 6.484e-4 Houge janssens syndrome Intellectual developmental disorder macrocephaly hypotonia behavioral 1 1 PPP2R5D (3) 0.20000 1.00000 2.598e-4 6.484e-4 Hyper-igd syndrome Hyper-immunoglobulin d syndrome 1 1 MVK (4) 0.20000 1.00000 2.598e-4 6.484e-4 327 Hyper-immunoglobulin d syndrome methylmalonic aciduria, cblb type 1 1 MMAB (2) 0.20000 1.00000 2.598e-4 6.484e-4 327 Hyper-immunoglobulin m syndrome X-linked hyper-igm syndrome 1 1 CD40LG (2) 0.20000 1.00000 2.598e-4 6.484e-4 Hyperexplexia hereditary sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 1 1 GPHN (2) 0.20000 1.00000 2.598e-4 6.484e-4 322 Hypergammaglobulinemia Visceral amyloidosis 1 1 B2M (3) 0.20000 1.00000 2.598e-4 6.484e-4 128 hyperinsulinism due to glucokinase deficiency Intestinal disaccharide malabsorption 1 1 GCK (2) 0.20000 1.00000 2.598e-4 6.484e-4 Hypochromic anemia Microcytic anemia 1 1 SLC11A2 (5) 0.20000 1.00000 2.598e-4 6.484e-4 hypogonadotropic hypogonadism 1 with or without anosmia Micropenis 1 1 ANOS1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 311 Multiple synostoses syndrome Proximal symphalangism 1 1 NOG (4) 0.20000 1.00000 2.598e-4 6.484e-4 Multiple synostoses syndrome NOG-related symphalangism spectrum disorder 1 1 NOG (5) 0.20000 1.00000 2.598e-4 6.484e-4 Myotonia congenita Smith-lemli-opitz syndrome 1 1 CLCN1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Benign neonatal epilepsy neonatal encephalopathy with non-epileptic myoclonus 1 1 KCNQ2 (4) 0.20000 1.00000 2.598e-4 6.484e-4 213 Bile duct calculus Neonatal hyperbilirubinemia 1 1 UGT1A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, type 12 1 1 NUP93 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, type 13 1 1 NUP205 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Microvascular angina Neural tube defects, folate-sensitive 1 1 MTHFR (3) 0.20000 1.00000 2.598e-4 6.484e-4 homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive 1 1 MTHFR (2) 0.20000 1.00000 2.598e-4 6.484e-4 Bestrophinopathy neurodegeneration with brain iron accumulation 9 1 1 FTH1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 415 Neurofibromatosis Watson syndrome 1 1 NF1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 71 17q11.2 microduplication syndrome Neurofibromatosis-noonan syndrome 1 1 NF1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 71 Cervical lymphadenopathy Neurofibromatosis-noonan syndrome 1 1 NF1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 71 Neurofibromatosis-noonan syndrome Watson syndrome 1 1 NF1 (6) 0.20000 1.00000 2.598e-4 6.484e-4 71 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 6.484e-4 NMNAT1-related retinopathy Wallerian degeneration 1 1 NMNAT1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 normophosphatemic familial tumoral calcinosis Tumoral calcinosis 1 1 SAMD9 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Mandibuloacral dysplasia obsolete lethal restrictive dermopathy 1 1 ZMPSTE24 (7) 0.20000 1.00000 2.598e-4 6.484e-4 Ocular dysgenesis Wagr syndrome 1 1 ELP4 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Neurofibromatosis-noonan syndrome Osteochondroma 1 1 PTPN11 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Osteochondroma Werner syndrome 1 1 PTPN11 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Osteolysis, hereditary, of carpal bones with or without nephropathy Parathyroid disease 1 1 MAFB (2) 0.20000 1.00000 2.598e-4 6.484e-4 Osteopenia severe combined immunodeficiency due to CARD11 deficiency 1 1 CARD11 (2) 0.20000 1.00000 2.598e-4 6.484e-4 335 Caffey disease Osteopenia 1 1 COL1A1 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Maternal hypertension Osteopenia 1 0 COL1A1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Epidermolysis bullosa simplex Weber-cockayne syndrome 1 1 KRT14 (2) 0.20000 1.00000 2.598e-4 6.484e-4 270 Epilepsy with auditory features Sacroiliac arthritis 1 1 RELN (3) 0.20000 1.00000 2.598e-4 6.484e-4 209 Epilepsy with auditory features Sacroiliac joint synovitis 1 1 RELN (3) 0.20000 1.00000 2.598e-4 6.484e-4 209 Erythrocyte galactose epimerase deficiency Galactosemia 1 1 GALE (4) 0.20000 1.00000 2.598e-4 6.484e-4 358 Erythrocyte udp-galactose-4-epimerase deficiency Galactosemia 1 1 GALE (3) 0.20000 1.00000 2.598e-4 6.484e-4 358 Erythrocytosis due to tissue hypoxemia Von hippel-lindau syndrome 1 1 VHL (7) 0.20000 1.00000 2.598e-4 6.484e-4 403 Esophageal and gastric varices Esophageal varices 1 1 SST (2) 0.20000 1.00000 2.598e-4 6.484e-4 340 Esophageal stenosis Sengers syndrome 1 1 SOD2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Esophageal stenosis Extrinsic allergic alveolitis 1 1 SOD2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 163 Extraskeletal ewing sarcoma Paris-trousseau thrombocytopenia 1 1 FLI1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Extraskeletal ewing sarcoma Peripheral primitive neuroectodermal tumor 1 0 FLI1 (1) 0.20000 1.00000 2.598e-4 6.484e-4 Extrinsic allergic alveolitis Refractory anemia 1 1 TNF (2) 0.20000 1.00000 2.598e-4 6.484e-4 Doyne honeycomb retinal dystrophy Factor h deficiency 1 1 CFH (3) 0.20000 1.00000 2.598e-4 6.484e-4 32 Familial infantile convulsions with paroxysmal choreoathetosis Paroxysmal dystonic choreoathetosis 1 1 PRRT2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 85 Dysphasia fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 1 1 ATP1A2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Focal palmoplantar keratoderma with joint keratoses Keratosis palmoplantaris striata 1 1 DSG1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 FOXC1-related anterior segment dysgenesis Rieger syndrome 1 1 FOXC1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 82 fructose-1,6-bisphosphatase deficiency Galactokinase deficiency 1 1 FBP1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Galactokinase deficiency Glucocorticoid receptor deficiency/resistance 1 1 NR3C1 (5) 0.20000 1.00000 2.598e-4 6.484e-4 galactose epimerase deficiency Galactosemia 1 1 GALE (4) 0.20000 1.00000 2.598e-4 6.484e-4 358 Galactose mutarotase deficiency Galactosemia 1 1 GALM (5) 0.20000 1.00000 2.598e-4 6.484e-4 Galactosemia Udp-glucose-hexose-1-phosphate uridylyltransferase 1 1 GALT (6) 0.20000 1.00000 2.598e-4 6.484e-4 358 Galactosemia Udp-glucose 4-epimerase deficiency 1 1 GALE (4) 0.20000 1.00000 2.598e-4 6.484e-4 358 Brain tumor-polyposis syndrome Gastrointestinal neoplasms 1 1 APC (2) 0.20000 1.00000 2.598e-4 6.484e-4 37 Familial adenomatous polyposis Gastrointestinal neoplasms 1 1 APC (3) 0.20000 1.00000 2.598e-4 6.484e-4 37 gastric adenocarcinoma and proximal polyposis of the stomach Gastrointestinal neoplasms 1 1 APC (2) 0.20000 1.00000 2.598e-4 6.484e-4 37 Gata2 deficiency Primary graft dysfunction 1 1 GATA2 (4) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 generalized epilepsy-paroxysmal dyskinesia syndrome Paroxysmal nonkinesigenic dyskinesia 1 1 KCNMA1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 85 Doyne honeycomb retinal dystrophy Genetic hemolytic uremic syndrome 1 1 CFH (2) 0.20000 1.00000 2.598e-4 6.484e-4 32 Genetic lipodystrophy Hypercholanemia 1 1 EPHX1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Genetic peripheral neuropathy hereditary peripheral neuropathy 1 1 IGHMBP2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 glaucoma 3, primary congenital, d Primary congenital glaucoma 1 1 LTBP2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 glaucoma 3, primary congenital, d Weill-marchesani syndrome 1 1 LTBP2 (7) 0.20000 1.00000 2.598e-4 6.484e-4 glutaryl-CoA dehydrogenase deficiency Tyrosinemia 1 1 GCDH (2) 0.20000 1.00000 2.598e-4 6.484e-4 199 Glycinuria with/without oxalate urolithiasis hartnup disease 1 1 SLC6A19 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Glycogen phosphorylase kinase deficiency glycogen storage disease IXd 1 1 PHKA1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Glycogen phosphorylase kinase deficiency glycogen storage disease IXb 1 1 PHKB (2) 0.20000 1.00000 2.598e-4 6.484e-4 Glycogen phosphorylase kinase deficiency glycogen storage disease IXc 1 1 PHKG2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 hypoproteinemia, hypercatabolic Visceral amyloidosis 1 1 B2M (2) 0.20000 1.00000 2.598e-4 6.484e-4 128 Idiopathic infantile hypercalcemia Intracranial embolism 1 1 KL (2) 0.20000 1.00000 2.598e-4 6.484e-4 IFT140-related recessive ciliopathy Mainzer-saldino disease 1 1 IFT140 (2) 0.20000 1.00000 2.598e-4 6.484e-4 immunodeficiency 114, folate-responsive Knobloch syndrome 1 1 SLC19A1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 immunodeficiency 11b with atopic dermatitis Osteopenia 1 1 CARD11 (2) 0.20000 1.00000 2.598e-4 6.484e-4 335 Homocystinuria with megaloblastic anemia inborn disorder of cobalamin metabolism and transport 1 1 MMADHC (3) 0.20000 1.00000 2.598e-4 6.484e-4 infantile convulsions and choreoathetosis Paroxysmal dystonic choreoathetosis 1 1 PRRT2 (2) 0.20000 1.00000 2.598e-4 6.484e-4 85 Infantile neurological cutaneous and articular syndrome Pericardial effusion 1 1 NLRP3 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Intestinal aganglionosis Waardenburg-shah syndrome 1 1 EDNRB (3) 0.20000 1.00000 2.598e-4 6.484e-4 Carney-stratakis syndrome Intestinal cancer 1 1 SDHD (5) 0.20000 1.00000 2.598e-4 6.484e-4 78 Intestinal pseudo-obstruction TFAP2B-related congenital heart disease spectrum disorder 1 1 TFAP2B (2) 0.20000 1.00000 2.598e-4 6.484e-4 Intestinal pseudo-obstruction Microhydranencephaly 1 1 NDE1 (3) 0.20000 1.00000 2.598e-4 6.484e-4 Intracranial embolism Tumoral calcinosis 1 1 KL (4) 0.20000 1.00000 2.598e-4 6.484e-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 6.484e-4 IRIDA syndrome Microcytic anemia 1 1 TMPRSS6 (2) 0.20000 1.00000 2.598e-4 6.484e-4 Dysgenesis of corpus callosum Juvenile myoclonic epilepsy 1 1 CILK1 (2) 0.20000 1.00000 2.598e-4 6.484e-4 42 Kennedy disease Male breast neoplasms 1 1 AR (2) 0.20000 1.00000 2.598e-4 6.484e-4 204 Carvajal syndrome Keratosis palmoplantaris striata 1 1 DSP (6) 0.20000 1.00000 2.598e-4 6.484e-4 206 Erythrokeratodermia-cardiomyopathy syndrome Keratosis palmoplantaris striata 1 1 DSP (5) 0.20000 1.00000 2.598e-4 6.484e-4 206 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 1 1 DSP (6) 0.20000 1.00000 2.598e-4 6.484e-4 206 Diffuse nonepidermolytic palmoplantar keratoderma Keratosis palmoplantaris striata 1 1 KRT1 (5) 0.20000 1.00000 2.598e-4 6.484e-4 Keratosis of greither Keratosis palmoplantaris striata 1 1 KRT1 (4) 0.20000 1.00000 2.598e-4 6.484e-4 Kidney and ureter calculus neonatal severe primary hyperparathyroidism 1 1 CASR (2) 0.20000 1.00000 2.598e-4 6.484e-4 Knobloch syndrome microcornea-myopic chorioretinal atrophy 1 1 ADAMTS18 (2) 0.20000 1.00000 2.598e-4 6.484e-4 B-lymphoblastic leukemia/lymphoma Burkitt lymphoma 2 2 TCF3 (2), PBX1 (2) 0.05405 0.10526 2.436e-4 6.484e-4 Cleft lip and palate Uranostaphyloschisis 2 0 IRF6 (1), ARHGAP29 (1) 0.05263 0.13333 2.415e-4 6.484e-4 Epithelial ovarian carcinoma Optic neuritis 2 2 GSTT1 (2), GSTM1 (2) 0.05000 0.15385 2.457e-4 6.484e-4 Dry eye syndrome Uveitis 3 1 IL1B (1), IL6 (1), TGFB1 (2) 0.03409 0.09091 2.425e-4 6.484e-4 Epithelial ovarian carcinoma Hirschsprung disease 3 3 GSTT1 (2), GSTM1 (2), ERBB2 (4) 0.03226 0.10714 2.386e-4 6.484e-4 Bile acid malabsorption Cholelithiasis 2 1 RASL12 (1), SLC51B (4) 0.01418 0.66667 2.413e-4 6.484e-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 6.484e-4 Emphysema Keratosis 2 2 TP53 (2), NFE2L2 (2) 0.04444 0.20000 2.364e-4 6.443e-4 Generalized anxiety disorder Retinal detachment 3 1 FRAS1 (1), MAPT (1), EYS (2) 0.03571 0.07500 2.282e-4 6.220e-4 Osteolysis Otosclerosis 2 2 SPP1 (2), TNFSF11 (2) 0.03509 0.28571 2.235e-4 6.093e-4 Benign prostatic hyperplasia Head and neck cancer 2 0 TERT (1), CLPTM1L (1) 0.04545 0.20000 2.233e-4 6.089e-4 Erectile dysfunction Lipoprotein lipase deficiency 3 1 SLC39A8 (1), VEGFA (3), TDRD15 (1) 0.03371 0.10000 2.226e-4 6.070e-4 Aortic stenosis Major salivary gland carcinoma 2 0 MYMK (1), SLC2A6 (1) 0.03077 0.33333 2.217e-4 6.048e-4 Essential tremor Neuropathy 3 0 PSD3 (1), TRIO (1), NAT2 (1) 0.02632 0.15789 2.182e-4 5.954e-4 Blepharoptosis Clinodactyly 2 0 ANKRD11 (1), DMD (1) 0.05556 0.11111 2.181e-4 5.951e-4 Myeloproliferative disorder Schizoaffective disorder 3 1 PDGFRB (1), MAD1L1 (1), CALR (2) 0.03529 0.08824 2.137e-4 5.830e-4 Byzanthine arch palate Hydrocephalus 2 0 PLOD1 (1), FGFR2 (1) 0.05263 0.15385 2.114e-4 5.770e-4 Dyskinesia Pruritus 2 2 PDYN (2), OPRM1 (2) 0.05263 0.15385 2.114e-4 5.770e-4 Basal ganglia disease Dyskinesia 2 2 DRD2 (2), HTR2A (2) 0.05263 0.15385 2.114e-4 5.770e-4 Galloway-mowat syndrome Idiopathic steroid-resistant nephrotic syndrome 2 2 NUP107 (5), NUP133 (6) 0.05128 0.16667 2.081e-4 5.681e-4 20 Cerebral arteriovenous malformations Intracranial aneurysm 2 1 IL6 (2), ENG (1) 0.05556 0.13333 2.023e-4 5.524e-4 Congenital hypoplasia of kidney Hypospadias 2 1 KAT6B (1), EYA1 (2) 0.04082 0.25000 2.013e-4 5.496e-4 Cerebral hemorrhage Erectile dysfunction 3 3 BCL2L1 (2), VEGFA (2), BCL2 (2) 0.03409 0.10345 2.009e-4 5.486e-4 Duodenal ulcer Hepatic insufficiency 2 2 TGFB1 (2), NOS2 (2) 0.04444 0.22222 2.001e-4 5.466e-4 Esophageal disease Sleep disorder 2 0 APOE (1), SLC39A8 (1) 0.05000 0.18182 1.996e-4 5.454e-4 Combined oxidative phosphorylation deficiency Leukodystrophy 3 2 AIFM1 (3), RAB33A (1), TOMM70 (2) 0.03261 0.11538 1.991e-4 5.441e-4 Developmental regression Sick sinus syndrome 2 0 MECP2 (1), LMNA (1) 0.05714 0.11111 1.953e-4 5.337e-4 Desmoid tumor Refractory anemia 1 1 TNF (2) 0.25000 1.00000 1.948e-4 5.325e-4 37 Desmoid tumor Intellectual developmental disorder dysmorphic ocular microcephaly peripheral 1 1 CTNNB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Desmoid tumor Familial adenomatous polyposis 1 1 APC (7) 0.25000 1.00000 1.948e-4 5.325e-4 37 Dias-logan syndrome Intellectual developmental disorder hemoglobin persistence 1 1 BCL11A (6) 0.25000 1.00000 1.948e-4 5.325e-4 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Digitrenocerebral syndrome 1 1 TBC1D24 (2) 0.25000 1.00000 1.948e-4 5.325e-4 105 Digitrenocerebral syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation 1 1 TBC1D24 (2) 0.25000 1.00000 1.948e-4 5.325e-4 105 Dominantly inherited sensory neuropathy hereditary sensory and autonomic neuropathy type 6 1 1 DST (2) 0.25000 1.00000 1.948e-4 5.325e-4 332 Dominantly inherited sensory neuropathy hereditary sensory and autonomic neuropathy type 7 1 1 SCN11A (2) 0.25000 1.00000 1.948e-4 5.325e-4 Dopamine transporter deficiency syndrome Parkinsonism-dystonia 1 1 SLC6A3 (5) 0.25000 1.00000 1.948e-4 5.325e-4 336 Dysalbuminemic hyperthyroxinemia Hyperthyroxinemia 1 1 ALB (6) 0.25000 1.00000 1.948e-4 5.325e-4 Dyschromatosis Dyschromatosis symmetrica hereditaria 1 1 SASH1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 378 Dyschromatosis symmetrica hereditaria microphthalmia, isolated, with coloboma 7 1 1 ABCB6 (7) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-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 5.325e-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 5.325e-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 5.325e-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 5.325e-4 222 East texas bleeding disorder Venous hypertension 1 1 F5 (3) 0.25000 1.00000 1.948e-4 5.325e-4 84 Congenital pectus carinatum Ectopia lentis 1 1 FBN1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 28 Coronary artery dissection Ectopia lentis 1 1 FBN1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 28 Eichsfeld type congenital muscular dystrophy Zebra body myopathy 1 1 ACTA1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Eichsfeld type congenital muscular dystrophy SELENON-related myopathy 1 1 SELENON (3) 0.25000 1.00000 1.948e-4 5.325e-4 Encephalitis X-linked cerebral adrenoleukodystrophy 1 1 ABCD1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 encephalopathy, progressive, with amyotrophy and optic atrophy Kenny-caffey syndrome 1 1 TBCE (4) 0.25000 1.00000 1.948e-4 5.325e-4 222 Cataract-multisystem syndrome Dkc1-related disorder 1 1 DKC1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 393 Cataract-multisystem syndrome dyskeratosis congenita, x-linked 1 1 DKC1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 393 Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy Galactosialidosis 1 1 CTSA (4) 0.25000 1.00000 1.948e-4 5.325e-4 Caveolinopathy Chromosome 3p25 monosomy 1 1 CAV3 (3) 0.25000 1.00000 1.948e-4 5.325e-4 349 Caveolinopathy Rippling muscle disease 1 1 CAV3 (8) 0.25000 1.00000 1.948e-4 5.325e-4 349 CBL-related disorder Early onset vitamin b6 dependent epilepsy 1 1 CBL (2) 0.25000 1.00000 1.948e-4 5.325e-4 Central centrifugal cicatricial alopecia Uncombable hair syndrome 1 1 PADI3 (6) 0.25000 1.00000 1.948e-4 5.325e-4 CEP290-related ciliopathy Congenital kidney anomaly 1 1 CEP290 (2) 0.25000 1.00000 1.948e-4 5.325e-4 48 Cerebellar ataxia with deafness and narcolepsy Dominantly inherited sensory neuropathy 1 1 DNMT1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 332 Cerebellar ataxia, deafness, and narcolepsy Dominantly inherited sensory neuropathy 1 1 DNMT1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 332 Cerebellar ataxia, impaired intellectual development, and dysequilibrium Cerebellar hypoplasia 1 1 VLDLR (2) 0.25000 1.00000 1.948e-4 5.325e-4 260 Cerebellar cortical atrophy Griscelli syndrome 1 1 MYO5A (7) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral arterial disease Cerebral artery occlusion 1 0 ADGRE3 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy inherited thrombocytopenia 1 1 NOTCH3 (6) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 374 Cerebral creatine deficiency syndrome Guanidinoacetate methyltransferase deficiency 1 1 GAMT (3) 0.25000 1.00000 1.948e-4 5.325e-4 380 Cerebral creatine deficiency syndrome Creatine transporter deficiency 1 1 SLC6A8 (4) 0.25000 1.00000 1.948e-4 5.325e-4 380 Cerebral embolism Hyperphosphatemic tumoral calcinosis 1 1 KL (2) 0.25000 1.00000 1.948e-4 5.325e-4 351 Cerebral embolism Hypercalcemic tumoral calcinosis 1 0 KL (1) 0.25000 1.00000 1.948e-4 5.325e-4 351 Cerebral sinovenous thrombosis Congenital factor ii deficiency 1 1 F2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 408 Cerebral sinovenous thrombosis Congenital prothrombin deficiency 1 1 F2 (5) 0.25000 1.00000 1.948e-4 5.325e-4 408 Cerebral sinovenous thrombosis thrombophilia due to thrombin defect 1 1 F2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 408 Cerebral sinovenous thrombosis Congenital factor v deficiency 1 1 F5 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral sinovenous thrombosis East texas bleeding disorder 1 1 F5 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Cardiac tamponade Cerebral thrombosis 1 1 PLAT (2) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral thrombosis Craniocerebral trauma 1 1 SERPINC1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral thrombosis Hereditary antithrombin deficiency 1 1 SERPINC1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral thrombosis hereditary von Willebrand disease 1 1 VWF (2) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral venous sinus thrombosis quebec platelet disorder 1 1 PLAU (3) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral venous sinus thrombosis Congenital factor v deficiency 1 1 F5 (6) 0.25000 1.00000 1.948e-4 5.325e-4 84 Cerebral venous sinus thrombosis East texas bleeding disorder 1 1 F5 (4) 0.25000 1.00000 1.948e-4 5.325e-4 84 Cerebral venous sinus thrombosis thrombophilia due to activated protein c resistance 1 1 F5 (3) 0.25000 1.00000 1.948e-4 5.325e-4 84 Cerebral venous sinus thrombosis protein S deficiency 1 1 PROS1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 84 Cerebrofaciothoracic dysplasia Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome 1 1 TMCO1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 418 Chilblain lupus Type i interferonopathy 1 1 TREX1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 159 Chilblain lupus retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 1 1 TREX1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 159 Childhood myocerebrohepatopathy spectrum Neonatal convulsions 1 0 POLG (1) 0.25000 1.00000 1.948e-4 5.325e-4 Childhood myocerebrohepatopathy spectrum Mitochondrial hepatopathy 1 0 POLG (1) 0.25000 1.00000 1.948e-4 5.325e-4 Cholestasis Osteootohepatoenteric syndrome 1 1 UNC45A (4) 0.25000 1.00000 1.948e-4 5.325e-4 Chondrocalcinosis Eye pain 1 1 POMC (2) 0.25000 1.00000 1.948e-4 5.325e-4 Chondrocalcinosis Rhabdomyoma 1 1 POMC (2) 0.25000 1.00000 1.948e-4 5.325e-4 Chondrocalcinosis Sacroiliitis 1 1 POMC (2) 0.25000 1.00000 1.948e-4 5.325e-4 Chorioretinopathy with microcephaly microcephaly and chorioretinopathy 1 1 1 TUBGCP6 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Choroideremia-deafness-obesity syndrome Deafness, nonsyndromic sensorineural, mitochondrial 1 1 POU3F4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 244 Choroideremia-deafness-obesity syndrome Hearing loss with stapes fixation 1 1 POU3F4 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Chromosome 12p deletion syndrome Urethral disease 1 1 ERC1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Chromosome 17q21.31 deletion syndrome koolen-de vries syndrome 1 1 KANSL1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Chromosome 17q21.31 deletion syndrome Conjunctival telangiectasis 1 0 ATM (1) 0.25000 1.00000 1.948e-4 5.325e-4 364 Chromosome 22q11.2 microduplication syndrome Shprintzen-goldberg syndrome 1 0 TBX1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Chromosome 3p25 monosomy Creatine phosphokinase elevation 1 1 CAV3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 349 Chromosome xq21 deletion syndrome Deafness, nonsyndromic sensorineural, mitochondrial 1 0 POU3F4 (1) 0.25000 1.00000 1.948e-4 5.325e-4 244 Chromosome xq21 deletion syndrome Hearing loss with stapes fixation 1 1 POU3F4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Chronic pain Erythromelalgia 1 1 SCN9A (5) 0.25000 1.00000 1.948e-4 5.325e-4 171 Chudley-mccullough syndrome Neonatal anemia 1 1 SPTB (2) 0.25000 1.00000 1.948e-4 5.325e-4 271 Chudley-mccullough syndrome Perinatal hemolytic anemia 1 0 SPTB (1) 0.25000 1.00000 1.948e-4 5.325e-4 271 ciliary dyskinesia, primary, 44 Pericardium disorder 1 1 NEK10 (2) 0.25000 1.00000 1.948e-4 5.325e-4 279 Citrin deficiency Citrullinemia 1 1 SLC25A13 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Citrullinemia ornithine translocase deficiency 1 1 SLC25A15 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Cleft palate psychomotor retardation distinctive facial features Primary bilateral macronodular adrenal hyperplasia 1 1 KDM1A (4) 0.25000 1.00000 1.948e-4 5.325e-4 Clonal cytopenia of undetermined significance hereditary thrombocytopenia and hematologic cancer predisposition syndrome 1 1 RUNX1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Clonal cytopenia of undetermined significance Microcephalic dwarfism 1 1 DNMT3A (2) 0.25000 1.00000 1.948e-4 5.325e-4 338 Clonal cytopenia of undetermined significance heyn-sproul-jackson syndrome 1 1 DNMT3A (2) 0.25000 1.00000 1.948e-4 5.325e-4 338 Clonal cytopenia of undetermined significance Tatton-Brown-Rahman overgrowth syndrome 1 1 DNMT3A (2) 0.25000 1.00000 1.948e-4 5.325e-4 338 Clouston syndrome Keratitis-ichthyosis-deafness syndrome 1 1 GJB6 (4) 0.25000 1.00000 1.948e-4 5.325e-4 68 Clouston syndrome Hearing loss with stapes fixation 1 1 GJB6 (5) 0.25000 1.00000 1.948e-4 5.325e-4 68 Clouston syndrome X-linked hearing loss with perilymphatic gusher 1 1 GJB6 (4) 0.25000 1.00000 1.948e-4 5.325e-4 68 congenital myopathy with myasthenic-like onset Malignant glioma 1 1 PAX7 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital myotonia Hyperkalemic periodic paralysis 1 1 CLCN1 (2) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 346 Congenital plasminogen activator inhibitor deficiency type 1 Portal vein thrombosis 1 1 SERPINE1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital respiratory system anomaly Rienhoff syndrome 1 1 TGFB3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Conotruncal anomaly face syndrome Shprintzen-goldberg syndrome 1 0 TBX1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Corneal opacity Deafness with congenital heart defects and posterior embryotoxon 1 1 JAG1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 373 Corneal opacity Hepatic ductular hypoplasia 1 1 JAG1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 373 Corneal opacity mucopolysaccharidosis type 4B 1 1 GLB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Corneal opacity Proximal renal tubular acidosis 1 1 SLC4A4 (4) 0.25000 1.00000 1.948e-4 5.325e-4 373 Achondroplasia Coronal craniosynostosis 1 1 FGFR3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Camptodactyly, tall stature, and hearing loss syndrome Coronal craniosynostosis 1 1 FGFR3 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Catshl syndrome Coronal craniosynostosis 1 1 FGFR3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Cortical dysgenesis with pontocerebellar hypoplasia X-linked hydrocephalus syndrome 1 1 TUBB3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Corticobasal syndrome frontotemporal dementia and/or amyotrophic lateral sclerosis 4 1 1 TBK1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Cramp-fasciculation syndrome Episodic pain syndrome 1 1 TRPA1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Achondroplasia Craniofacial dysostosis 1 1 FGFR3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Craniometaphyseal dysplasia Palmoplantar keratoderma with congenital alopecia 1 1 GJA1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Craniofacial dysostosis craniosynostosis 4 1 1 ERF (2) 0.25000 1.00000 1.948e-4 5.325e-4 Creatine phosphokinase elevation Rippling muscle disease 1 1 CAV3 (6) 0.25000 1.00000 1.948e-4 5.325e-4 349 Crisponi syndrome Perching syndrome 1 1 KLHL7 (5) 0.25000 1.00000 1.948e-4 5.325e-4 343 Cronkhite-canada syndrome White sutton syndrome 1 0 GLI3 (1) 0.25000 1.00000 1.948e-4 5.325e-4 192 CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Desmoid tumor 1 1 CTNNB1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Culler-jones syndrome White sutton syndrome 1 1 GLI2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 cutis laxa, autosomal dominant 1 Dermatitis herpetiformis 1 1 ELN (2) 0.25000 1.00000 1.948e-4 5.325e-4 37 D-bifunctional protein deficiency Fatty acid metabolism disorder 1 1 HSD17B4 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Deafness-onychodystrophy syndrome Digitrenocerebral syndrome 1 1 ATP6V1B2 (4) 0.25000 1.00000 1.948e-4 5.325e-4 105 Deafness-onychodystrophy syndrome Zimmermann-laband syndrome 1 1 ATP6V1B2 (4) 0.25000 1.00000 1.948e-4 5.325e-4 105 Dend syndrome Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency 1 1 ABCC8 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Dend syndrome Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency 1 1 ABCC8 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Dend syndrome hyperinsulinemic hypoglycemia, familial, 1 1 1 ABCC8 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Dend syndrome Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency 1 1 KCNJ11 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Dent disease Oculocerebrorenal syndrome 1 1 OCRL (7) 0.25000 1.00000 1.948e-4 5.325e-4 Dent disease X-linked nephrolithiasis 1 1 CLCN5 (7) 0.25000 1.00000 1.948e-4 5.325e-4 Dentatorubral pallidoluysian atrophy X-linked hydrocephalus syndrome 1 1 ATN1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Dermatitis herpetiformis Refractory anemia 1 1 TNF (2) 0.25000 1.00000 1.948e-4 5.325e-4 37 11p11.2 deletion syndrome Frontonasal dysplasia with alopecia and genital anomaly 1 1 ALX4 (5) 0.25000 1.00000 1.948e-4 5.325e-4 108 11p11.2 deletion syndrome Seizures, scoliosis, and macrocephaly/microcephaly syndrome 1 1 EXT2 (5) 0.25000 1.00000 1.948e-4 5.325e-4 108 11p11.2 deletion syndrome exostoses, multiple, type 2 1 1 EXT2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 108 11p11.2 deletion syndrome Intellectual developmental disorder behavioral dysmorphic 1 1 PHF21A (4) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 280 14q11.2 microduplication syndrome FOXG1 disorder 1 1 FOXG1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 280 17,20-lyase deficiency Malignant hypertension 1 1 CYP17A1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 17q21.31 microdeletion syndrome Chromosome 17q21.31 deletion syndrome 1 1 KANSL1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 1p31p32 microdeletion syndrome Brain malformations 1 1 NFIA (7) 0.25000 1.00000 1.948e-4 5.325e-4 3-hydroxyisobutyryl-coa hydrolase deficiency Beta-hydroxyisobutyryl-coa deacylase deficiency 1 1 HIBCH (5) 0.25000 1.00000 1.948e-4 5.325e-4 367 46, xy disorder of sex development NR5A1-related sex development disorder 1 1 NR5A1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 183 Aapoai amyloidosis Ataxia with vitamin e deficiency 1 1 APOA1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 293 ABCA4-related retinopathy Bietti crystalline corneoretinal dystrophy 1 1 ABCA4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 150 Abeta amyloidosis Amyloid neuropathy 1 1 APP (3) 0.25000 1.00000 1.948e-4 5.325e-4 151 Aceruloplasminemia Ferroxidase deficiency 1 1 CP (4) 0.25000 1.00000 1.948e-4 5.325e-4 188 Achondrogenesis TRIP11-related skeletal dysplasia 1 1 TRIP11 (2) 0.25000 1.00000 1.948e-4 5.325e-4 190 Achondrogenesis De la chapelle dysplasia 1 1 SLC26A2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 190 Achondrogenesis Diastrophic dysplasia 1 1 SLC26A2 (5) 0.25000 1.00000 1.948e-4 5.325e-4 190 Achondrogenesis Diastrophic dysplasia, broad bone-platyspondylic variant 1 1 SLC26A2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 190 Achondrogenesis Ear disease 1 1 SLC26A2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 190 Acne inversa Pash syndrome 1 1 NCSTN (2) 0.25000 1.00000 1.948e-4 5.325e-4 151 Activated pi3k-delta syndrome immunodeficiency 14b, autosomal recessive 1 1 PIK3CD (2) 0.25000 1.00000 1.948e-4 5.325e-4 375 Activated pi3k-delta syndrome immunodeficiency 14 1 1 PIK3CD (2) 0.25000 1.00000 1.948e-4 5.325e-4 375 Activated pi3k-delta syndrome Short syndrome 1 1 PIK3R1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Activated pi3k-delta syndrome agammaglobulinemia 7, autosomal recessive 1 1 PIK3R1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Activated pi3k-delta syndrome PIK3R1-related immunodeficiency and SHORT syndrome 1 1 PIK3R1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Adenosine kinase deficiency Sulfur amino acid metabolism disorder 1 1 ADK (3) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 Agat deficiency Cerebral creatine deficiency syndrome 1 1 GATM (4) 0.25000 1.00000 1.948e-4 5.325e-4 alacrima, achalasia, and intellectual disability syndrome Glucocorticoid deficiency with achalasia 1 1 GMPPA (2) 0.25000 1.00000 1.948e-4 5.325e-4 383 alacrima, achalasia, and intellectual disability syndrome Intellectual disability with strabismus syndrome 1 1 GMPPA (2) 0.25000 1.00000 1.948e-4 5.325e-4 383 alacrima, achalasia, and intellectual disability syndrome Triple a syndrome 1 1 GMPPA (3) 0.25000 1.00000 1.948e-4 5.325e-4 383 Alpha thalassemia x-linked intellectual disability Hemoglobin barts fetalis syndrome 1 1 ATRX (2) 0.25000 1.00000 1.948e-4 5.325e-4 Alpha thalassemia x-linked intellectual disability Hemoglobin h disease 1 1 ATRX (2) 0.25000 1.00000 1.948e-4 5.325e-4 Alpha-actinopathy Eichsfeld type congenital muscular dystrophy 1 1 ACTA1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Alpha-actinopathy Rigid spine muscular dystrophy 1 1 ACTA1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Aminoglycoside-induced deafness Deafness, aminoglycoside-induced 1 1 TRMU (4) 0.25000 1.00000 1.948e-4 5.325e-4 Amr syndrome Perniola krajewska carnevale syndrome 1 1 AHSG (2) 0.25000 1.00000 1.948e-4 5.325e-4 386 Amyloid angiopathy Amyloid neuropathy 1 1 APP (2) 0.25000 1.00000 1.948e-4 5.325e-4 151 Amyloid neuropathy Partial epilepsy with variable foci 1 1 APP (2) 0.25000 1.00000 1.948e-4 5.325e-4 151 Amyloid neuropathy Eye manifestations 1 1 APP (2) 0.25000 1.00000 1.948e-4 5.325e-4 151 Amyloid neuropathy cerebral amyloid angiopathy, app-related 1 1 APP (3) 0.25000 1.00000 1.948e-4 5.325e-4 151 amyotrophic lateral sclerosis, susceptibility to, 25 Genetic neurodegenerative disease 1 1 KIF5A (2) 0.25000 1.00000 1.948e-4 5.325e-4 Analbuminemia Anuria 1 1 ALB (4) 0.25000 1.00000 1.948e-4 5.325e-4 314 Analbuminemia Hyperthyroxinemia 1 1 ALB (6) 0.25000 1.00000 1.948e-4 5.325e-4 Anastomosing haemangioma Cerebrofacial arteriovenous metameric syndrome 1 1 GNA14 (2) 0.25000 1.00000 1.948e-4 5.325e-4 65 Angiofollicular ganglionic hyperplasia Intracranial arteriovenous malformation 1 1 IL6 (2) 0.25000 1.00000 1.948e-4 5.325e-4 248 Angiolymphoid hyperplasia Intracranial arteriovenous malformation 1 1 IL6 (2) 0.25000 1.00000 1.948e-4 5.325e-4 248 Ankylosis Antley-bixler syndrome 1 1 FGFR2 (6) 0.25000 1.00000 1.948e-4 5.325e-4 38 Antithrombin deficiency Craniocerebral trauma 1 1 SERPINC1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Antithrombin deficiency Hereditary antithrombin deficiency 1 1 SERPINC1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Antley-bixler syndrome P450 oxidoreductase deficiency 1 1 POR (8) 0.25000 1.00000 1.948e-4 5.325e-4 Antley-bixler syndrome Beare-stevenson cutis gyrata syndrome 1 1 FGFR2 (7) 0.25000 1.00000 1.948e-4 5.325e-4 38 Antley-bixler syndrome Cutis gyrata syndrome 1 1 FGFR2 (6) 0.25000 1.00000 1.948e-4 5.325e-4 38 Anuria quebec platelet disorder 1 1 PLAU (3) 0.25000 1.00000 1.948e-4 5.325e-4 Anuria Blood protein disorder 1 1 ALB (2) 0.25000 1.00000 1.948e-4 5.325e-4 314 Anuria Congenital analbuminemia 1 1 ALB (5) 0.25000 1.00000 1.948e-4 5.325e-4 314 Anuria Dysalbuminemic hyperthyroxinemia 1 1 ALB (2) 0.25000 1.00000 1.948e-4 5.325e-4 314 Aplasia and myelodysplasia Congenital bone marrow failure syndrome 1 1 SRP72 (4) 0.25000 1.00000 1.948e-4 5.325e-4 319 Aplasia of lacrimal and salivary glands Lacrimoauriculodentodigital syndrome 1 1 FGF10 (6) 0.25000 1.00000 1.948e-4 5.325e-4 321 Aplasia of lacrimal and salivary glands Ladd syndrome 1 1 FGF10 (6) 0.25000 1.00000 1.948e-4 5.325e-4 321 Apnea Butyrylcholinesterase deficiency 1 1 BCHE (5) 0.25000 1.00000 1.948e-4 5.325e-4 397 Apnea Trismus 1 1 BCHE (2) 0.25000 1.00000 1.948e-4 5.325e-4 397 Apolipoprotein a-i amyloidosis Ataxia with vitamin e deficiency 1 1 APOA1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 293 Apolipoprotein c-iii deficiency Cholesterol ester transfer protein deficiency 1 1 APOC3 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Apolipoprotein c-iii deficiency Hyperalphalipoproteinemia 1 1 APOC3 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Arachnoid cysts sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 1 1 GPHN (2) 0.25000 1.00000 1.948e-4 5.325e-4 Arachnoid cysts Corpus callosum agenesis with abnormal genitalia 1 1 ARX (5) 0.25000 1.00000 1.948e-4 5.325e-4 255 Arachnoid cysts X-linked lissencephaly 1 1 ARX (4) 0.25000 1.00000 1.948e-4 5.325e-4 255 Arachnoid cysts X-linked spasticity-intellectual disability-epilepsy syndrome 1 1 ARX (3) 0.25000 1.00000 1.948e-4 5.325e-4 255 Colchicine resistance Orthostatic hypotension 1 1 ABCB1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 120 Cold-induced sweating syndrome Perching syndrome 1 1 KLHL7 (5) 0.25000 1.00000 1.948e-4 5.325e-4 343 collagen 6-related myopathy dystonia 27 1 0 COL6A3 (1) 0.25000 1.00000 1.948e-4 5.325e-4 307 Collagen vi muscular dystrophy dystonia 27 1 1 COL6A3 (3) 0.25000 1.00000 1.948e-4 5.325e-4 307 Bouillaud’s disease Collagenous colitis 1 1 HLA-DQA1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 1 Collagenous colitis Skeletal system disease 1 0 HLA-DQA1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 1 Collagenous colitis Wheat allergic reaction 1 0 HLA-DQA1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 1 Combined deficiency of sialidase and beta galactosidase Galactosialidosis 1 1 CTSA (5) 0.25000 1.00000 1.948e-4 5.325e-4 combined immunodeficiency due to DOCK8 deficiency Insulin dependent diabetes mellitus secretory diarrhea syndrome 1 1 DOCK8 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Combined immunodeficiency with granulomatosis recombinase activating gene 1 deficiency 1 1 RAG1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 176 Combined immunodeficiency with granulomatosis recombinase activating gene 2 deficiency 1 1 RAG2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 176 Combined immunodeficiency, enteropathy spectrum Multiple intestinal atresia 1 1 TTC7A (3) 0.25000 1.00000 1.948e-4 5.325e-4 269 Combined oxidative phosphorylation defect Parkinsonism-dystonia 1 1 WARS2 (4) 0.25000 1.00000 1.948e-4 5.325e-4 336 Concentric hypertrophic cardiomyopathy Timothy syndrome 1 1 CACNA1C (6) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital analbuminemia Hyperthyroxinemia 1 1 ALB (8) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital blindness GUCY2D-related dominant retinopathy 1 1 GUCY2D (2) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital blindness GUCY2D-related recessive retinopathy 1 1 GUCY2D (2) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital blindness Retinitis pigmentosa with choroidal involvement 1 1 RPE65 (4) 0.25000 1.00000 1.948e-4 5.325e-4 400 Congenital blindness RPE65-related recessive retinopathy 1 1 RPE65 (2) 0.25000 1.00000 1.948e-4 5.325e-4 400 Congenital blindness RPE65-related dominant retinopathy 1 1 RPE65 (2) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-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 5.325e-4 276 Congenital facial anomaly Thauvin-robinet-faivre syndrome 1 1 FIBP (3) 0.25000 1.00000 1.948e-4 5.325e-4 347 Congenital facial anomaly developmental and epileptic encephalopathy, 50 1 1 CAD (2) 0.25000 1.00000 1.948e-4 5.325e-4 347 Congenital factor v deficiency Venous hypertension 1 1 F5 (4) 0.25000 1.00000 1.948e-4 5.325e-4 84 Congenital factor vii deficiency Hematoma 1 1 F7 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital hypoplasia of aortic arch Ventricular hypertrophy 1 0 PKHD1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 74 17q23.1q23.2 microdeletion syndrome Congenital hypoplasia of lung 1 1 TBX4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 27 Amelia Congenital hypoplasia of lung 1 1 TBX4 (3) 0.25000 1.00000 1.948e-4 5.325e-4 27 Chromosome 17q23.1-q23.2 duplication syndrome Congenital hypoplasia of lung 1 0 TBX4 (1) 0.25000 1.00000 1.948e-4 5.325e-4 27 Congenital hypoplasia of lung Coxopodopatellar syndrome 1 1 TBX4 (3) 0.25000 1.00000 1.948e-4 5.325e-4 27 Congenital hypoplasia of lung Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension 1 1 TBX4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 27 Congenital hypoplasia of pancreas Partial pancreatic agenesis 1 0 PDX1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies X-linked hydrocephalus syndrome 1 1 ATN1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital kidney anomaly Liver cyst 1 0 PKD1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 48 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi Short syndrome 1 1 PIK3R1 (5) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 Clapo syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 1 1 PIK3CA (5) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital microvillous atrophy Microvillus inclusion disease 1 1 MYO5B (5) 0.25000 1.00000 1.948e-4 5.325e-4 96 Bilateral multicystic dysplastic kidney Renal cysts and diabetes syndrome 1 1 HNF1B (7) 0.25000 1.00000 1.948e-4 5.325e-4 145 Bile duct cancer Intellectual developmental disorder dysmorphic brain 1 1 TRAPPC9 (4) 0.25000 1.00000 1.948e-4 5.325e-4 394 Ankylosis Biliary tract neoplasms 1 0 FGFR2 (1) 0.25000 1.00000 1.948e-4 5.325e-4 38 Beare-stevenson cutis gyrata syndrome Biliary tract neoplasms 1 1 FGFR2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 38 Biliary tract neoplasms Cutis gyrata syndrome 1 1 FGFR2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 38 Bleeding esophageal varices Vipoma 1 1 SST (2) 0.25000 1.00000 1.948e-4 5.325e-4 340 Blepharophimosis syndrome Simpson syndrome 1 1 KAT6B (3) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis syndrome KAT6B-related multiple congenital anomalies syndrome 1 1 KAT6B (3) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 1 MED12 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis syndrome MED12-related intellectual disability syndrome 1 1 MED12 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis-intellectual disability syndrome Simpson syndrome 1 1 KAT6B (3) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis-intellectual disability syndrome KAT6B-related multiple congenital anomalies syndrome 1 1 KAT6B (2) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis-intellectual disability syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 1 MED12 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis-intellectual disability syndrome MED12-related intellectual disability syndrome 1 1 MED12 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Blepharophimosis syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome 1 1 FOXL2 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Blood protein disorder Hyperthyroxinemia 1 1 ALB (6) 0.25000 1.00000 1.948e-4 5.325e-4 Blue cone monochromatism Tritanopia 1 1 OPN1SW (5) 0.25000 1.00000 1.948e-4 5.325e-4 217 Blue cone monochromatism red color blindness 1 1 OPN1LW (5) 0.25000 1.00000 1.948e-4 5.325e-4 217 Blue cone monochromatism red-green color blindness 1 1 OPN1MW (5) 0.25000 1.00000 1.948e-4 5.325e-4 217 Bnar syndrome Trigonocephaly 1 1 FREM1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 139 Body skin hyperlaxity Combined deficiency of vitamin k-dependent clotting factors 1 1 GGCX (7) 0.25000 1.00000 1.948e-4 5.325e-4 417 Bohring-opitz-like syndrome Cold-induced sweating syndrome 1 1 KLHL7 (3) 0.25000 1.00000 1.948e-4 5.325e-4 343 Bohring-opitz-like syndrome Crisponi syndrome 1 1 KLHL7 (3) 0.25000 1.00000 1.948e-4 5.325e-4 343 Bone osteosarcoma CHEK2-related cancer predisposition 1 1 CHEK2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Adrenocortical carcinoma Bone osteosarcoma 1 1 TP53 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Bone osteosarcoma Choroid plexus carcinoma 1 1 TP53 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Bor syndrome Cayler cardiofacial syndrome 1 1 EYA1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 134 Brachydactyly-syndactyly syndrome Synpolydactyly 1 1 HOXD13 (6) 0.25000 1.00000 1.948e-4 5.325e-4 111 Brachymesophalangy Synpolydactyly 1 1 HOXD13 (5) 0.25000 1.00000 1.948e-4 5.325e-4 111 Brachyolmia Congenital benign spinal muscular atrophy 1 1 TRPV4 (5) 0.25000 1.00000 1.948e-4 5.325e-4 218 Brachyolmia Brachyrachia 1 1 TRPV4 (6) 0.25000 1.00000 1.948e-4 5.325e-4 218 Brachyolmia Digital arthropathy-brachydactyly, familial 1 1 TRPV4 (5) 0.25000 1.00000 1.948e-4 5.325e-4 218 Brachyolmia Parastremmatic dwarfism 1 1 TRPV4 (7) 0.25000 1.00000 1.948e-4 5.325e-4 218 Brachyolmia Scapuloperoneal spinal muscular atrophy 1 1 TRPV4 (6) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 346 Brain malformations Chromosome 1p32-p31 deletion syndrome 1 1 NFIA (6) 0.25000 1.00000 1.948e-4 5.325e-4 Brain malformations Zhu-tokita-takenouchi-kim syndrome 1 1 SON (7) 0.25000 1.00000 1.948e-4 5.325e-4 Brain tumor-polyposis syndrome Desmoid tumor 1 1 APC (6) 0.25000 1.00000 1.948e-4 5.325e-4 37 Brain tumor-polyposis syndrome Turcot syndrome 1 1 APC (3) 0.25000 1.00000 1.948e-4 5.325e-4 Branchial arch abnormalities syndrome Vissers-bodmer syndrome 1 1 KMT2D (3) 0.25000 1.00000 1.948e-4 5.325e-4 95 Branchial cleft anomalies Vissers-bodmer syndrome 1 0 KMT2D (1) 0.25000 1.00000 1.948e-4 5.325e-4 95 Bresek syndrome Congenital palmoplantar and perioral keratoderma of olmsted 1 1 MBTPS2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 346 Brown tendon sheath syndrome Whispering dysphonia 1 1 TUBB4A (2) 0.25000 1.00000 1.948e-4 5.325e-4 Brown tendon sheath syndrome TUBB4A-related neurologic disorder 1 1 TUBB4A (2) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 Bruck syndrome ehlers-danlos syndrome, cardiac valvular type 1 1 COL1A2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Bruck syndrome COL1A2-related Ehlers-Danlos syndrome 1 1 COL1A2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Bruck syndrome COL1A2-related osteogenesis imperfecta 1 1 COL1A2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Bruxism CDKL5 disorder 1 1 CDKL5 (2) 0.25000 1.00000 1.948e-4 5.325e-4 55 Bruxism Central apnea 1 0 MECP2 (1) 0.25000 1.00000 1.948e-4 5.325e-4 55 Bruxism Neonatal encephalopathy 1 1 MECP2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 55 Bulbar palsy Central apnea 1 0 MECP2 (1) 0.25000 1.00000 1.948e-4 5.325e-4 55 Bulbar palsy Neonatal encephalopathy 1 1 MECP2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 55 Burnett schwartz berberian syndrome Keratosis follicularis spinulosa decalvans 1 1 LRP1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 247 C1q deficiency systemic lupus erythematosus related to C1QA 1 1 C1QA (6) 0.25000 1.00000 1.948e-4 5.325e-4 Café-au-lait macules Schwannomatosis 1 1 LZTR1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Dyschromatosis symmetrica hereditaria 1 1 SASH1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 378 Cap myopathy MYPN-related myopathy 1 1 MYPN (4) 0.25000 1.00000 1.948e-4 5.325e-4 Cap myopathy dilated cardiomyopathy 1KK 1 1 MYPN (4) 0.25000 1.00000 1.948e-4 5.325e-4 Cap myopathy TPM2-related myopathy 1 1 TPM2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Cap myopathy Congenital generalized hypercontractile muscle stiffness syndrome 1 1 TPM3 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Cap myopathy TPM3-related myopathy 1 1 TPM3 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Capillary infantile hemangioma Growth retardation, alopecia, pseudoanodontia and optic atrophy 1 1 ANTXR1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Capillary infantile hemangioma gapo syndrome 1 1 ANTXR1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Capillary infantile hemangioma congenital heart defects, multiple types, 7 1 1 FLT4 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Capillary infantile hemangioma lymphatic malformation 1 1 1 FLT4 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Capillary malformation Clapo syndrome 1 1 PIK3CA (4) 0.25000 1.00000 1.948e-4 5.325e-4 Capillary malformation Cloves syndrome 1 1 PIK3CA (4) 0.25000 1.00000 1.948e-4 5.325e-4 Carasil syndrome Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 1 HTRA1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Carnevale syndrome De la chapelle dysplasia 1 0 SLC26A2 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Carpenter syndrome RAB23-related Carpenter syndrome 1 1 RAB23 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Carpenter syndrome MEGF8-related Carpenter syndrome 1 1 MEGF8 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Carvajal syndrome Right ventricular cardiomyopathy 1 1 DSP (2) 0.25000 1.00000 1.948e-4 5.325e-4 206 Castleman disease Intracranial arteriovenous malformation 1 1 IL6 (2) 0.25000 1.00000 1.948e-4 5.325e-4 248 Cataract-alopecia-sclerodactyly syndrome Perniola krajewska carnevale syndrome 1 0 LSS (1) 0.25000 1.00000 1.948e-4 5.325e-4 386 Arginine vasopressin deficiency Shy-drager syndrome 1 1 AVP (2) 0.25000 1.00000 1.948e-4 5.325e-4 Arginine-glycine amidinotransferase deficiency Cerebral creatine deficiency syndrome 1 1 GATM (4) 0.25000 1.00000 1.948e-4 5.325e-4 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Right ventricular cardiomyopathy 1 1 DSP (2) 0.25000 1.00000 1.948e-4 5.325e-4 206 Arterial tortuosity syndrome cutis laxa, autosomal recessive, type 1B 1 1 EFEMP2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 64 Arthrogryposis-renal dysfunction-cholestasis syndrome Congenital pectus carinatum 1 0 FBN1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 28 Arthrogryposis-renal dysfunction-cholestasis syndrome Coronary artery dissection 1 0 FBN1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 28 17q23.1q23.2 microdeletion syndrome Arthropathy 1 1 TBX4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 27 Amelia Arthropathy 1 1 TBX4 (3) 0.25000 1.00000 1.948e-4 5.325e-4 27 Arthropathy Chromosome 17q23.1-q23.2 duplication syndrome 1 0 TBX4 (1) 0.25000 1.00000 1.948e-4 5.325e-4 27 Arthropathy Coxopodopatellar syndrome 1 1 TBX4 (3) 0.25000 1.00000 1.948e-4 5.325e-4 27 Arthropathy Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension 1 1 TBX4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 27 asphyxiating thoracic dystrophy 2 Thoracic disease 1 1 IFT80 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Asthenozoospermia quebec platelet disorder 1 1 PLAU (3) 0.25000 1.00000 1.948e-4 5.325e-4 29 Asymmetric crying face association Bor syndrome 1 1 EYA1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 134 Ataxia with vitamin e deficiency hypercholesterolemia, autosomal dominant, type B 1 1 APOB (3) 0.25000 1.00000 1.948e-4 5.325e-4 Ataxia with vitamin e deficiency Vitamin e deficiency 1 1 TTPA (6) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 ATM-related cancer predisposition Chromosome 17q21.31 deletion syndrome 1 1 ATM (2) 0.25000 1.00000 1.948e-4 5.325e-4 364 Atr-x syndrome Hemoglobin barts fetalis syndrome 1 1 ATRX (4) 0.25000 1.00000 1.948e-4 5.325e-4 Atr-x syndrome Hemoglobin h disease 1 1 ATRX (4) 0.25000 1.00000 1.948e-4 5.325e-4 Atrial standstill dilated cardiomyopathy 1E 1 1 SCN5A (3) 0.25000 1.00000 1.948e-4 5.325e-4 140 Atrial standstill SCN5A-related cardiac rhythm disorder 1 1 SCN5A (3) 0.25000 1.00000 1.948e-4 5.325e-4 140 Atrophic retina Bietti crystalline corneoretinal dystrophy 1 0 ABCA4 (1) 0.25000 1.00000 1.948e-4 5.325e-4 150 Atrophoderma vermiculata Keratosis follicularis spinulosa decalvans 1 1 LRP1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 247 Atypical hemolytic uremic syndrome Factor i deficiency 1 1 CFI (2) 0.25000 1.00000 1.948e-4 5.325e-4 32 Atypical hemolytic uremic syndrome Factor h deficiency 1 1 CFH (3) 0.25000 1.00000 1.948e-4 5.325e-4 32 Atypical teratoid rhabdoid tumor Schwannomatosis 1 1 SMARCB1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 299 Au-kline syndrome X-linked distal spinal muscular atrophy 1 1 ATP7A (5) 0.25000 1.00000 1.948e-4 5.325e-4 402 Au-kline syndrome menkes disease 1 1 ATP7A (2) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 402 Au-kline syndrome Chuvash erythrocytosis 1 1 VHL (4) 0.25000 1.00000 1.948e-4 5.325e-4 Au-kline syndrome Erythrocytosis due to tissue hypoxemia 1 0 VHL (1) 0.25000 1.00000 1.948e-4 5.325e-4 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Mycosis fungoides 1 1 CTLA4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Autoimmune pulmonary alveolar proteinosis Benign mucous membrane pemphigoid with ocular involvement 1 1 HLA-DRB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Autoimmune pulmonary alveolar proteinosis Bouillaud’s disease 1 1 HLA-DRB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Acute disseminated encephalomyelitis Autoimmune pulmonary alveolar proteinosis 1 1 HLA-DRB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Autoinflammation with arthritis and vasculitis Corticobasal syndrome 1 1 TBK1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Autoinflammation, panniculitis, and dermatosis syndrome Chondrocalcinosis 1 1 OTULIN (6) 0.25000 1.00000 1.948e-4 5.325e-4 208 Autoinflammation, panniculitis, and dermatosis syndrome Craniometaphyseal dysplasia 1 1 OTULIN (6) 0.25000 1.00000 1.948e-4 5.325e-4 208 autosomal recessive polycystic kidney disease Liver cyst 1 1 PKD1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 autosomal recessive polycystic kidney disease Congenital hypoplasia of aortic arch 1 1 PKHD1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 74 autosomal recessive polycystic kidney disease Periportal fibrosis 1 1 PKHD1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 74 Avascular necrosis of femoral head Collagenopathy 1 1 COL2A1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 15 Avascular necrosis of femoral head Coxa plana 1 1 COL2A1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 15 Avascular necrosis of femoral head Czech dysplasia 1 1 COL2A1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 15 Avascular necrosis of femoral head Dysspondyloenchondromatosis 1 1 COL2A1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 15 Avascular necrosis of femoral head kniest dysplasia 1 1 COL2A1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 15 Ayazi syndrome Deafness, nonsyndromic sensorineural, mitochondrial 1 0 POU3F4 (1) 0.25000 1.00000 1.948e-4 5.325e-4 244 Ayazi syndrome Hearing loss with stapes fixation 1 1 POU3F4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Bart-pumphrey syndrome Keratitis-ichthyosis-deafness syndrome 1 1 GJB2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 68 Becker muscular dystrophy Benign congenital myopathy 1 1 DMD (4) 0.25000 1.00000 1.948e-4 5.325e-4 212 Becker muscular dystrophy Dystrophinopathy 1 1 DMD (4) 0.25000 1.00000 1.948e-4 5.325e-4 212 Becker muscular dystrophy progressive muscular dystrophy 1 1 DMD (5) 0.25000 1.00000 1.948e-4 5.325e-4 212 Beemer-langer syndrome Thoracic disease 1 1 IFT80 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Benign fasciculation-cramp syndrome Episodic pain syndrome 1 1 TRPA1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Benign paroxysmal torticollis of infancy Bulbar palsy 1 1 CACNA1A (2) 0.25000 1.00000 1.948e-4 5.325e-4 55 Bent bone dysplasia Campomelic dysplasia 1 1 SOX9 (6) 0.25000 1.00000 1.948e-4 5.325e-4 164 Bent bone dysplasia Camptomelic dysplasia 1 1 SOX9 (2) 0.25000 1.00000 1.948e-4 5.325e-4 164 Bent bone dysplasia Cooks syndrome 1 1 SOX9 (3) 0.25000 1.00000 1.948e-4 5.325e-4 164 Bent bone dysplasia isolated Pierre-Robin syndrome 1 1 SOX9 (2) 0.25000 1.00000 1.948e-4 5.325e-4 164 Ankylosis Bent bone dysplasia 1 1 FGFR2 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Beta-hexosaminidase a deficiency Tay-sachs disease 1 1 HEXA (7) 0.25000 1.00000 1.948e-4 5.325e-4 Beta-hydroxyisobutyryl-coa deacylase deficiency X-linked hereditary sensory and autonomic neuropathy with deafness 1 1 AIFM1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 367 Bietti crystalline corneoretinal dystrophy Congenital prekallikrein deficiency 1 1 KLKB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Bietti crystalline corneoretinal dystrophy inherited prekallikrein deficiency 1 1 KLKB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria 1 1 ADGRG1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 269 Diffuse nonepidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma 1 1 KRT1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 187 Epidermolytic palmoplantar keratoderma Keratosis of greither 1 1 KRT1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 187 Episodic kinesigenic dyskinesia Familial infantile convulsions with paroxysmal choreoathetosis 1 1 PRRT2 (5) 0.25000 1.00000 1.948e-4 5.325e-4 85 Episodic kinesigenic dyskinesia Paroxysmal dystonia 1 1 PRRT2 (5) 0.25000 1.00000 1.948e-4 5.325e-4 85 Erythrokeratodermia-cardiomyopathy syndrome Right ventricular cardiomyopathy 1 0 DSP (1) 0.25000 1.00000 1.948e-4 5.325e-4 206 Erythromelalgia hereditary sensory and autonomic neuropathy type 7 1 1 SCN11A (2) 0.25000 1.00000 1.948e-4 5.325e-4 171 Esophageal and gastric varices Vipoma 1 0 SST (1) 0.25000 1.00000 1.948e-4 5.325e-4 340 exostoses, multiple, type 1 Trichorhinophalangeal syndrome 1 1 EXT1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 exostoses, multiple, type 2 Potocki-shaffer syndrome 1 1 EXT2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 108 Factor h deficiency Thrombotic microangiopathy 1 1 CFH (2) 0.25000 1.00000 1.948e-4 5.325e-4 32 Factor i deficiency Thrombotic microangiopathy 1 1 CFI (2) 0.25000 1.00000 1.948e-4 5.325e-4 32 Factor vii deficiency Hematoma 1 1 F7 (5) 0.25000 1.00000 1.948e-4 5.325e-4 FAM111A-related skeletal dysplasia Kenny-caffey syndrome 1 1 FAM111A (7) 0.25000 1.00000 1.948e-4 5.325e-4 familial acute necrotizing encephalopathy Hyperkalemic periodic paralysis 1 1 RANBP2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 170 Familial adenomatous polyposis Turcot syndrome 1 1 APC (4) 0.25000 1.00000 1.948e-4 5.325e-4 Familial polycythemia Growth retardation, mild developmental delay, chronic hepatitis syndrome 1 1 SH2B3 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Familial polycythemia SH2B3-related immune system disorder 1 1 SH2B3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 FANCM Fanconi-like genomic instability disorder hereditary breast carcinoma 1 0 FANCM (1) 0.25000 1.00000 1.948e-4 5.325e-4 FAS-related autoimmune lymphoproliferative immune disorder Leukocyte disorders 1 1 FAS (3) 0.25000 1.00000 1.948e-4 5.325e-4 246 FAT4-related neurodevelopmental disorder Hennekam syndrome 1 1 FAT4 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Ferroxidase deficiency Hemosiderosis 1 1 CP (2) 0.25000 1.00000 1.948e-4 5.325e-4 188 Ferroxidase deficiency hemochromatosis type 4 1 1 SLC40A1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 188 Ferroxidase deficiency hermansky-pudlak syndrome 3 1 1 HPS3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 188 focal segmental glomerulosclerosis 7 Renal cysts and diabetes syndrome 1 1 PAX2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Frontonasal dysplasia with alopecia and genital anomaly Potocki-shaffer syndrome 1 1 ALX4 (5) 0.25000 1.00000 1.948e-4 5.325e-4 108 Desmoid tumor gastric adenocarcinoma and proximal polyposis of the stomach 1 1 APC (7) 0.25000 1.00000 1.948e-4 5.325e-4 37 gastric adenocarcinoma and proximal polyposis of the stomach Turcot syndrome 1 1 APC (4) 0.25000 1.00000 1.948e-4 5.325e-4 Gastrointestinal defects and immunodeficiency syndrome Multiple intestinal atresia 1 1 TTC7A (6) 0.25000 1.00000 1.948e-4 5.325e-4 269 Gastroschisis Salt-sensitive hypertension 1 0 ADD1 (1) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 Congenital pectus carinatum Geleophysic dysplasia 1 1 FBN1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 28 Coronary artery dissection Geleophysic dysplasia 1 1 FBN1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 28 Genetic hemolytic uremic syndrome Thrombotic microangiopathy 1 0 CFH (1) 0.25000 1.00000 1.948e-4 5.325e-4 32 Atypical hemolytic uremic syndrome Genetic hemolytic uremic syndrome 1 1 CFH (2) 0.25000 1.00000 1.948e-4 5.325e-4 32 Genetic infertility Olmsted syndrome 1 1 SPATA22 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Genetic neurodegenerative disease inherited neurodegenerative disorder 1 1 KIF5A (2) 0.25000 1.00000 1.948e-4 5.325e-4 Giant cell tumor of tendon sheath Renal cysts and diabetes syndrome 1 1 HNF1B (6) 0.25000 1.00000 1.948e-4 5.325e-4 145 Glucocorticoid deficiency with achalasia Intellectual developmental disorder movement cerebellar 1 1 TRAPPC11 (3) 0.25000 1.00000 1.948e-4 5.325e-4 383 Glycine n-methyltransferase deficiency S-adenosylhomocysteine hydrolase deficiency 1 1 GNMT (5) 0.25000 1.00000 1.948e-4 5.325e-4 112 Glycine n-methyltransferase deficiency Sulfur amino acid metabolism disorder 1 1 GNMT (5) 0.25000 1.00000 1.948e-4 5.325e-4 112 Glycine n-methyltransferase deficiency Hepatic methionine adenosyltransferase deficiency 1 1 GNMT (5) 0.25000 1.00000 1.948e-4 5.325e-4 112 Avascular necrosis of femoral head GNPTAB-mucolipidosis 1 1 GNPTAB (2) 0.25000 1.00000 1.948e-4 5.325e-4 15 ichthyosiform erythroderma, corneal involvement, and hearing loss Keratitis-ichthyosis-deafness syndrome 1 1 AP1B1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 68 IFIH1-related type 1 interferonopathy Selective immunoglobulin a deficiency 1 1 IFIH1 (2) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 immunodeficiency 123 with hpv-related verrucosis Mycosis fungoides 1 1 CD28 (2) 0.25000 1.00000 1.948e-4 5.325e-4 immunodeficiency 14 Roifman syndrome 1 1 PIK3CD (4) 0.25000 1.00000 1.948e-4 5.325e-4 375 immunodeficiency 14b, autosomal recessive Roifman syndrome 1 1 PIK3CD (4) 0.25000 1.00000 1.948e-4 5.325e-4 375 Episodic kinesigenic dyskinesia infantile convulsions and choreoathetosis 1 1 PRRT2 (6) 0.25000 1.00000 1.948e-4 5.325e-4 85 Insulinomatosis and diabetes mellitus Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 1 1 MAFA (2) 0.25000 1.00000 1.948e-4 5.325e-4 Intellectual developmental disorder behavioral dysmorphic Potocki-shaffer syndrome 1 1 PHF21A (5) 0.25000 1.00000 1.948e-4 5.325e-4 108 Intellectual developmental disorder dysmorphic strabismus Intellectual disability with strabismus syndrome 1 1 ADAT3 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Intellectual developmental disorder microcephaly strabismus behaviora White sutton syndrome 1 1 POGZ (6) 0.25000 1.00000 1.948e-4 5.325e-4 Intellectual developmental disorder movement cerebellar Triple a syndrome 1 1 TRAPPC11 (3) 0.25000 1.00000 1.948e-4 5.325e-4 383 joubert syndrome 3 Selective immunoglobulin a deficiency 1 1 AHI1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 369 KAT6B-related multiple congenital anomalies syndrome Neuropathic spinal arthropathy 1 1 KAT6B (2) 0.25000 1.00000 1.948e-4 5.325e-4 KCNH1 associated disorder Zimmermann-laband syndrome 1 1 KCNH1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Kenny caffey syndrome Kenny-caffey syndrome 1 1 TBCE (6) 0.25000 1.00000 1.948e-4 5.325e-4 222 Kenny-caffey syndrome Osteocraniostenosis 1 1 FAM111A (6) 0.25000 1.00000 1.948e-4 5.325e-4 Kenny-caffey syndrome Sanjad-sakati syndrome 1 1 TBCE (4) 0.25000 1.00000 1.948e-4 5.325e-4 222 Keratitis ichthyosis hearing loss syndrome Keratitis-ichthyosis-deafness syndrome 1 1 GJB2 (5) 0.25000 1.00000 1.948e-4 5.325e-4 68 Keratosis follicularis spinulosa decalvans Tricuspid atresia 1 1 LRP1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 247 Keratosis follicularis spinulosa decalvans pediatric systemic lupus erythematosus 1 1 SAT1 (2) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 Achondroplasia Lacrimoauriculodentodigital syndrome 1 1 FGFR3 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Camptodactyly, tall stature, and hearing loss syndrome Lacrimoauriculodentodigital syndrome 1 1 FGFR3 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Achondroplasia Ladd syndrome 1 1 FGFR3 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Camptodactyly, tall stature, and hearing loss syndrome Ladd syndrome 1 1 FGFR3 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Bent bone dysplasia LAMA5-related multisystemic syndrome 1 1 LAMA5 (4) 0.25000 1.00000 1.948e-4 5.325e-4 164 greig cephalopolysyndactyly syndrome White sutton syndrome 1 1 GLI3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 192 Growth retardation, mild developmental delay, chronic hepatitis syndrome Polycythemia, primary familial and congenital 1 1 SH2B3 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Hairy cell leukemia Ventricular hypertrophy 1 1 BRAF (2) 0.25000 1.00000 1.948e-4 5.325e-4 hartnup disease Hyperglycinuria 1 1 SLC6A19 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Hartsfield-Bixler-Demyer syndrome Pfeiffer syndrome 1 1 FGFR1 (7) 0.25000 1.00000 1.948e-4 5.325e-4 Alpha thalassemia HBA1-related alpha thalassemia spectrum 1 1 HBA1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 24 HBA1-related alpha thalassemia spectrum Hemoglobin barts fetalis syndrome 1 1 HBA1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 24 HBA1-related alpha thalassemia spectrum Hemoglobin h disease 1 1 HBA1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 24 Alpha thalassemia HBA2-related alpha thalassemia spectrum 1 1 HBA2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 24 HBA2-related alpha thalassemia spectrum Hemoglobin barts fetalis syndrome 1 1 HBA2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 24 HBA2-related alpha thalassemia spectrum Hemoglobin h disease 1 1 HBA2 (6) 0.25000 1.00000 1.948e-4 5.325e-4 24 Benign mucous membrane pemphigoid with ocular involvement Heerfordt syndrome 1 0 HLA-DRB1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Bouillaud’s disease Heerfordt syndrome 1 0 HLA-DRB1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Acute disseminated encephalomyelitis Heerfordt syndrome 1 0 HLA-DRB1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Cardiac tamponade Hematoma 1 1 PLAT (2) 0.25000 1.00000 1.948e-4 5.325e-4 29 Cooleys anemia Hemoglobin f disease 1 0 HBB (1) 0.25000 1.00000 1.948e-4 5.325e-4 18 Dominant beta-thalassemia Hemoglobin f disease 1 1 HBB (4) 0.25000 1.00000 1.948e-4 5.325e-4 18 Hemoglobin c disease Hemoglobin f disease 1 1 HBB (3) 0.25000 1.00000 1.948e-4 5.325e-4 18 Hemoglobin f disease Hemoglobinopathy toms river 1 1 HBG2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 18 Hemophilia b carriers Warfarin sensitivity 1 1 F9 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Hepatic methionine adenosyltransferase deficiency hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1 1 AHCY (2) 0.25000 1.00000 1.948e-4 5.325e-4 112 Hepatic methionine adenosyltransferase deficiency methionine adenosyltransferase deficiency 1 1 MAT1A (3) 0.25000 1.00000 1.948e-4 5.325e-4 112 Hepatic vein thrombosis Microvascular angina 1 1 MTHFR (2) 0.25000 1.00000 1.948e-4 5.325e-4 Hepatic vein thrombosis homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 1 MTHFR (2) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital factor v deficiency Hepatic vein thrombosis 1 1 F5 (5) 0.25000 1.00000 1.948e-4 5.325e-4 84 East texas bleeding disorder Hepatic vein thrombosis 1 1 F5 (3) 0.25000 1.00000 1.948e-4 5.325e-4 84 Hereditary arginine vasopressin deficiency Shy-drager syndrome 1 1 AVP (3) 0.25000 1.00000 1.948e-4 5.325e-4 hereditary breast carcinoma microcephaly with intellectual disability 1 0 MCPH1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Episodic kinesigenic dyskinesia Hereditary continuous muscle fiber activity 1 1 KCNA1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 85 Episodic pain syndrome hereditary sensory and autonomic neuropathy type 7 1 1 SCN11A (4) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 431 holoprosencephaly 12 with or without pancreatic agenesis Vissers-bodmer syndrome 1 1 CNOT1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 95 holoprosencephaly 3 Partial agenesis of corpus callosum 1 1 SHH (2) 0.25000 1.00000 1.948e-4 5.325e-4 230 holoprosencephaly 3 Skeletal system disease 1 1 SHH (2) 0.25000 1.00000 1.948e-4 5.325e-4 Homocystinuria Malnutrition 1 1 CBS (5) 0.25000 1.00000 1.948e-4 5.325e-4 hyper-IgE recurrent infection syndrome 1, autosomal dominant Hyper-immunoglobulin e syndrome 1 1 STAT3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 167 Hyper-ige syndrome Hyper-immunoglobulin e syndrome 1 1 STAT3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 167 Hyper-immunoglobulin e syndrome Lymphoproliferative disorder of natural killer cells 1 1 STAT3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 167 Hyper-immunoglobulin e syndrome STAT3-related early-onset multisystem autoimmune disease 1 1 STAT3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 167 Hypercalcemic tumoral calcinosis Intracranial embolism 1 0 KL (1) 0.25000 1.00000 1.948e-4 5.325e-4 351 hypercholesterolemia, autosomal dominant, 3 Hypobetalipoproteinemia 1 1 PCSK9 (2) 0.25000 1.00000 1.948e-4 5.325e-4 201 hypercholesterolemia, autosomal dominant, type B Hypobetalipoproteinemia 1 1 APOB (4) 0.25000 1.00000 1.948e-4 5.325e-4 201 Dend syndrome hyperinsulinemic hypoglycemia, familial, 2 1 1 KCNJ11 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Hyperkalemic periodic paralysis Myotonia 1 1 SCN4A (5) 0.25000 1.00000 1.948e-4 5.325e-4 170 Hyperkalemic periodic paralysis Potassium-aggravated myotonia 1 1 SCN4A (5) 0.25000 1.00000 1.948e-4 5.325e-4 170 Hyperkalemic periodic paralysis SCN4A-related myopathy, autosomal recessive 1 1 SCN4A (6) 0.25000 1.00000 1.948e-4 5.325e-4 170 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase S-adenosylhomocysteine hydrolase deficiency 1 1 AHCY (3) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 112 Hyperoxia Patent ductus venosus 1 1 AHR (2) 0.25000 1.00000 1.948e-4 5.325e-4 203 Hyperoxia Ureteral neoplasms 1 0 AHR (1) 0.25000 1.00000 1.948e-4 5.325e-4 203 Hyperoxia Urinary bladder calculi 1 0 AHR (1) 0.25000 1.00000 1.948e-4 5.325e-4 203 Hyperoxia Urinary bladder stone 1 1 AHR (2) 0.25000 1.00000 1.948e-4 5.325e-4 203 Hyperoxia TNF receptor 1-associated periodic fever syndrome 1 1 TNFRSF1A (2) 0.25000 1.00000 1.948e-4 5.325e-4 Hyperphenylalaninemia Phenylketonuria 1 1 PAH (4) 0.25000 1.00000 1.948e-4 5.325e-4 Hyperphenylalaninemia Tetrahydrobiopterin-responsive phenylketonuria 1 1 PAH (3) 0.25000 1.00000 1.948e-4 5.325e-4 Hyperphosphatemic tumoral calcinosis Intracranial embolism 1 1 KL (2) 0.25000 1.00000 1.948e-4 5.325e-4 351 Dystransthyretinemic euthyroidal hyperthyroxinemia Hyperthyroxinemia 1 1 TTR (4) 0.25000 1.00000 1.948e-4 5.325e-4 185 Hyperthyroxinemia Senile systemic amyloidosis 1 1 TTR (3) 0.25000 1.00000 1.948e-4 5.325e-4 185 Hyperthyroxinemia Transthyretin amyloid cardiomyopathy 1 1 TTR (3) 0.25000 1.00000 1.948e-4 5.325e-4 185 Hyperthyroxinemia Wild-type transthyretin-related amyloidosis 1 1 TTR (3) 0.25000 1.00000 1.948e-4 5.325e-4 185 Hyperthyroxinemia obsolete hereditary ATTR amyloidosis 1 1 TTR (3) 0.25000 1.00000 1.948e-4 5.325e-4 185 Hypocalcemic vitamin d-dependent rickets Peptic esophagitis 1 1 VDR (2) 0.25000 1.00000 1.948e-4 5.325e-4 342 Hypocalciuric hypercalcemia neonatal severe primary hyperparathyroidism 1 1 CASR (7) 0.25000 1.00000 1.948e-4 5.325e-4 210 hypoplasminogenemia Leukocyte disorders 1 1 PLG (3) 0.25000 1.00000 1.948e-4 5.325e-4 246 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 5.325e-4 Coronal craniosynostosis TCF12-related craniosynostosis 1 1 TCF12 (2) 0.25000 1.00000 1.948e-4 5.325e-4 250 Temple-baraitser syndrome Zimmermann-laband syndrome 1 1 KCNH1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Thiamine-responsive megaloblastic anemia Venous hypertension 1 1 SLC19A2 (7) 0.25000 1.00000 1.948e-4 5.325e-4 84 Alpha thalassemia x-linked intellectual disability Thoracic disease 1 1 ATRX (3) 0.25000 1.00000 1.948e-4 5.325e-4 117 Atr-x syndrome Thoracic disease 1 1 ATRX (4) 0.25000 1.00000 1.948e-4 5.325e-4 117 Thoracic disease X-linked alpha-thalassemia-intellectual disability syndrome 1 1 ATRX (3) 0.25000 1.00000 1.948e-4 5.325e-4 117 Three-vessel coronary artery disease Upshaw-schulman syndrome 1 1 ADAMTS13 (2) 0.25000 1.00000 1.948e-4 5.325e-4 325 Cerebral sinovenous thrombosis thrombophilia due to activated protein c resistance 1 1 F5 (3) 0.25000 1.00000 1.948e-4 5.325e-4 thrombophilia due to activated protein c resistance Venous hypertension 1 1 F5 (2) 0.25000 1.00000 1.948e-4 5.325e-4 84 thrombophilia, X-linked, due to factor 9 defect Warfarin sensitivity 1 1 F9 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Tibial hemimelia White sutton syndrome 1 0 GLI3 (1) 0.25000 1.00000 1.948e-4 5.325e-4 192 Mandibuloacral dysostosis Tight skin contracture syndrome 1 1 ZMPSTE24 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Torg-winchester syndrome Winchester syndrome 1 1 MMP14 (5) 0.25000 1.00000 1.948e-4 5.325e-4 dilated cardiomyopathy 1E Torsades de pointes 1 1 SCN5A (3) 0.25000 1.00000 1.948e-4 5.325e-4 140 SCN5A-related cardiac rhythm disorder Torsades de pointes 1 1 SCN5A (3) 0.25000 1.00000 1.948e-4 5.325e-4 140 Osteoglophonic dwarfism Trigonocephaly 1 1 FGFR1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 139 Osteoglophonic dysplasia Trigonocephaly 1 1 FGFR1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 139 Hartsfield-Bixler-Demyer syndrome Trigonocephaly 1 1 FGFR1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 139 TUBB3-related tubulinopathy X-linked hydrocephalus syndrome 1 1 TUBB3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Coronal craniosynostosis TWIST1-related craniosynostosis 1 1 TWIST1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 250 Saethre-chotzen syndrome TWIST1-related craniosynostosis 1 1 TWIST1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Clapo syndrome Vascular malformation 1 1 PIK3CA (4) 0.25000 1.00000 1.948e-4 5.325e-4 53 Cloves syndrome Vascular malformation 1 1 PIK3CA (3) 0.25000 1.00000 1.948e-4 5.325e-4 53 Congenital intestinal duplication Vascular malformation 1 1 PIK3CA (2) 0.25000 1.00000 1.948e-4 5.325e-4 53 Congenital macrodactylia Vascular malformation 1 1 PIK3CA (3) 0.25000 1.00000 1.948e-4 5.325e-4 53 Congenital malformation syndromes involving early overgrowth Vascular malformation 1 1 PIK3CA (2) 0.25000 1.00000 1.948e-4 5.325e-4 53 Vitamin d deficiency Worth syndrome 1 1 LRP5 (3) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 123 LRP5-related exudative vitreoretinopathy Vitamin d deficiency 1 1 LRP5 (2) 0.25000 1.00000 1.948e-4 5.325e-4 123 Collagenopathy Vitreoretinopathy 1 1 COL2A1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 15 Coxa plana Vitreoretinopathy 1 1 COL2A1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 15 Czech dysplasia Vitreoretinopathy 1 1 COL2A1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 15 Dysspondyloenchondromatosis Vitreoretinopathy 1 1 COL2A1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 15 kniest dysplasia Vitreoretinopathy 1 1 COL2A1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 15 Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Weyers acrofacial dysostosis 1 1 CTNNB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Weyers acrofacial dysostosis 1 1 CTNNB1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Schimmelpenning-feuerstein-mims syndrome Woolly hair nevus 1 1 HRAS (2) 0.25000 1.00000 1.948e-4 5.325e-4 17 Seminoma Woolly hair nevus 1 1 HRAS (2) 0.25000 1.00000 1.948e-4 5.325e-4 17 Hemoglobin barts fetalis syndrome X-linked alpha-thalassemia-intellectual disability syndrome 1 1 ATRX (2) 0.25000 1.00000 1.948e-4 5.325e-4 Hemoglobin h disease X-linked alpha-thalassemia-intellectual disability syndrome 1 1 ATRX (2) 0.25000 1.00000 1.948e-4 5.325e-4 X-linked combined immunodeficiency diseases X-linked severe combined immunodeficiency 1 1 IL2RG (3) 0.25000 1.00000 1.948e-4 5.325e-4 Cerebral creatine deficiency syndrome X-linked creatine transporter deficiency 1 1 SLC6A8 (3) 0.25000 1.00000 1.948e-4 5.325e-4 380 Partial corpus callosum agenesis, x-linked X-linked hydrocephalus syndrome 1 1 L1CAM (4) 0.25000 1.00000 1.948e-4 5.325e-4 277 Masa syndrome X-linked hydrocephalus syndrome 1 1 L1CAM (6) 0.25000 1.00000 1.948e-4 5.325e-4 277 X-linked complicated corpus callosum dysgenesis X-linked hydrocephalus syndrome 1 1 L1CAM (4) 0.25000 1.00000 1.948e-4 5.325e-4 277 X-linked complicated spastic paraplegia X-linked hydrocephalus syndrome 1 1 L1CAM (4) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 277 Deafness, nonsyndromic sensorineural, mitochondrial Xq21 microdeletion syndrome 1 1 POU3F4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 244 Hearing loss with stapes fixation Xq21 microdeletion syndrome 1 1 POU3F4 (3) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 Palmoplantar keratoderma and congenital alopecia Perniola krajewska carnevale syndrome 1 1 LSS (3) 0.25000 1.00000 1.948e-4 5.325e-4 386 pancreatic agenesis 1 Partial pancreatic agenesis 1 1 PDX1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Pancreatic beta-cell agenesis with neonatal diabetes mellitus Partial pancreatic agenesis 1 0 PTF1A (1) 0.25000 1.00000 1.948e-4 5.325e-4 Papillorenal syndrome Renal cysts and diabetes syndrome 1 1 PAX2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Parkinsonism-dystonia SLC6A3-related dopamine transporter deficiency syndrome 1 1 SLC6A3 (5) 0.25000 1.00000 1.948e-4 5.325e-4 336 Partial agenesis of corpus callosum Preaxial polydactyly with upper back hypertrichosis 1 1 SHH (2) 0.25000 1.00000 1.948e-4 5.325e-4 230 Partial agenesis of corpus callosum Skeletal system disorder 1 0 SHH (1) 0.25000 1.00000 1.948e-4 5.325e-4 230 Peptic esophagitis Vitamin d deficiency 1 1 VDR (2) 0.25000 1.00000 1.948e-4 5.325e-4 Periportal fibrosis Ventricular hypertrophy 1 0 PKHD1 (1) 0.25000 1.00000 1.948e-4 5.325e-4 74 Ankylosis Pfeiffer syndrome 1 1 FGFR2 (8) 0.25000 1.00000 1.948e-4 5.325e-4 38 Beare-stevenson cutis gyrata syndrome Pfeiffer syndrome 1 1 FGFR2 (8) 0.25000 1.00000 1.948e-4 5.325e-4 38 Cutis gyrata syndrome Pfeiffer syndrome 1 1 FGFR2 (8) 0.25000 1.00000 1.948e-4 5.325e-4 38 Polycythemia, primary familial and congenital SH2B3-related immune system disorder 1 1 SH2B3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Microvascular angina Portal vein thrombosis 1 1 MTHFR (2) 0.25000 1.00000 1.948e-4 5.325e-4 60 homocystinuria due to methylene tetrahydrofolate reductase deficiency Portal vein thrombosis 1 1 MTHFR (2) 0.25000 1.00000 1.948e-4 5.325e-4 60 Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome White sutton syndrome 1 1 GLI2 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Potocki-shaffer syndrome Seizures, scoliosis, and macrocephaly/microcephaly syndrome 1 1 EXT2 (5) 0.25000 1.00000 1.948e-4 5.325e-4 108 Preaxial polydactyly with upper back hypertrichosis Skeletal system disease 1 1 SHH (3) 0.25000 1.00000 1.948e-4 5.325e-4 Erythromelalgia Primary erythromelalgia 1 1 SCN9A (6) 0.25000 1.00000 1.948e-4 5.325e-4 171 Arthropathy progressive pseudorheumatoid arthropathy of childhood 1 1 CCN6 (2) 0.25000 1.00000 1.948e-4 5.325e-4 27 Activated pi3k-delta syndrome PTEN hamartoma tumor syndrome 1 1 PTEN (2) 0.25000 1.00000 1.948e-4 5.325e-4 PTEN hamartoma tumor syndrome Retinal vasculopathy with cerebral leukodystrophy 1 1 PTEN (2) 0.25000 1.00000 1.948e-4 5.325e-4 long chain 3-hydroxyacyl-coa dehydrogenase deficiency Trifunctional protein deficiency 1 1 HADHA (3) 0.25000 1.00000 1.948e-4 5.325e-4 LZTR1-related schwannomatosis Schwannomatosis 1 1 LZTR1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Macronodular adrenal hyperplasia Primary bilateral macronodular adrenal hyperplasia 1 1 ARMC5 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Malignant hypertension Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Malignant hypertension renal tubular dysgenesis of genetic origin 1 1 REN (3) 0.25000 1.00000 1.948e-4 5.325e-4 70 Malnutrition Microvascular angina 1 1 MTHFR (2) 0.25000 1.00000 1.948e-4 5.325e-4 homocystinuria due to methylene tetrahydrofolate reductase deficiency Malnutrition 1 1 MTHFR (3) 0.25000 1.00000 1.948e-4 5.325e-4 Malnutrition methylcobalamin deficiency type cblG 1 1 MTR (3) 0.25000 1.00000 1.948e-4 5.325e-4 155 Emery dreifuss muscular dystrophy Mandibuloacral dysostosis 1 1 LMNA (3) 0.25000 1.00000 1.948e-4 5.325e-4 83 Mandibuloacral dysostosis Severe lipodystrophic laminopathy 1 1 LMNA (3) 0.25000 1.00000 1.948e-4 5.325e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Mandibuloacral dysostosis 1 1 LMNA (3) 0.25000 1.00000 1.948e-4 5.325e-4 83 maternal riboflavin deficiency Riboflavin transporter deficiency 1 1 SLC52A1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 melanoma, cutaneous malignant, susceptibility to, 3 Well-differentiated liposarcoma 1 1 CDK4 (2) 0.25000 1.00000 1.948e-4 5.325e-4 361 methionine adenosyltransferase deficiency S-adenosylhomocysteine hydrolase deficiency 1 1 MAT1A (2) 0.25000 1.00000 1.948e-4 5.325e-4 112 microcephaly with lissencephaly and/or hydranencephaly Microlissencephaly 1 1 NDE1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Microhydranencephaly Microlissencephaly 1 1 NDE1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Mitochondrial hepatopathy Schilder disease 1 1 POLG (2) 0.25000 1.00000 1.948e-4 5.325e-4 Mitochondrial hepatopathy perrault syndrome 5 1 1 TWNK (2) 0.25000 1.00000 1.948e-4 5.325e-4 181 mitochondrial trifunctional protein deficiency Trifunctional protein deficiency 1 1 HADHB (2) 0.25000 1.00000 1.948e-4 5.325e-4 mucopolysaccharidosis type 1 Pfaundler-hurler syndrome 1 1 IDUA (2) 0.25000 1.00000 1.948e-4 5.325e-4 300 Multicystic dysplastic kidney Renal cysts and diabetes syndrome 1 1 HNF1B (7) 0.25000 1.00000 1.948e-4 5.325e-4 145 Multiminicore myopathy Myosin storage myopathy 1 1 MYH7 (2) 0.25000 1.00000 1.948e-4 5.325e-4 104 Biventricular noncompaction cardiomyopathy Multiminicore myopathy 1 1 MYH7 (2) 0.25000 1.00000 1.948e-4 5.325e-4 104 Multiminicore myopathy MYH7-related skeletal myopathy 1 1 MYH7 (3) 0.25000 1.00000 1.948e-4 5.325e-4 104 dilated cardiomyopathy 1S Multiminicore myopathy 1 1 MYH7 (3) 0.25000 1.00000 1.948e-4 5.325e-4 104 Multiminicore myopathy Progressive contractures limb-girdle weakness muscle dystrophy syndrome 1 1 TTN (3) 0.25000 1.00000 1.948e-4 5.325e-4 multiple endocrine neoplasia type 1 Vipoma 1 1 MEN1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Refractory anemia Spinal cord compression 1 1 TNF (2) 0.25000 1.00000 1.948e-4 5.325e-4 Renal cysts and diabetes syndrome Renal dysplasia 1 1 HNF1B (6) 0.25000 1.00000 1.948e-4 5.325e-4 145 Chromosome 8p23.1 monosomy Renal cysts and diabetes syndrome 1 0 GATA4 (1) 0.25000 1.00000 1.948e-4 5.325e-4 Retinal vasculopathy with cerebral leukodystrophy Type i interferonopathy 1 1 TREX1 (5) 0.25000 1.00000 1.948e-4 5.325e-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 5.325e-4 159 Bone osteosarcoma Retinoblastoma 1 1 RB1 (5) 0.25000 1.00000 1.948e-4 5.325e-4 Rh deficiency syndrome Rh-null, regulator type 1 1 RHAG (5) 0.25000 1.00000 1.948e-4 5.325e-4 306 Rh deficiency syndrome Rh-null, amorph type 1 1 RHCE (4) 0.25000 1.00000 1.948e-4 5.325e-4 306 Riboflavin deficiency Riboflavin transporter deficiency 1 1 SLC52A1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Right atrial isomerism Right isomerism 1 1 GDF1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 56 Emery dreifuss muscular dystrophy Right ventricular cardiomyopathy 1 1 LMNA (3) 0.25000 1.00000 1.948e-4 5.325e-4 Rigid spine muscular dystrophy Zebra body myopathy 1 1 ACTA1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Rigid spine muscular dystrophy SELENON-related myopathy 1 1 SELENON (4) 0.25000 1.00000 1.948e-4 5.325e-4 Achondroplasia Saethre-chotzen syndrome 1 1 FGFR3 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Lacrimoauriculodentodigital syndrome Salivary gland agenesis 1 1 FGF10 (5) 0.25000 1.00000 1.948e-4 5.325e-4 321 Ladd syndrome Salivary gland agenesis 1 1 FGF10 (2) 0.25000 1.00000 1.948e-4 5.325e-4 321 Schimmelpenning-feuerstein-mims syndrome Splenic neoplasms 1 1 HRAS (2) 0.25000 1.00000 1.948e-4 5.325e-4 17 Schwartz-jampel syndrome Silverman-Handmaker type dyssegmental dysplasia 1 1 HSPG2 (6) 0.25000 1.00000 1.948e-4 5.325e-4 146 Multiminicore myopathy SELENON-related myopathy 1 1 SELENON (3) 0.25000 1.00000 1.948e-4 5.325e-4 Achondroplasia Seminoma 1 1 FGFR3 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Camptodactyly, tall stature, and hearing loss syndrome Seminoma 1 1 FGFR3 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Catshl syndrome Seminoma 1 1 FGFR3 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Crouzon syndrome with acanthosis nigricans Seminoma 1 1 FGFR3 (7) 0.25000 1.00000 1.948e-4 5.325e-4 Congenital pectus carinatum Shprintzen-goldberg syndrome 1 1 FBN1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 Coronary artery dissection Shprintzen-goldberg syndrome 1 1 FBN1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 silver-russell syndrome 5 Well-differentiated liposarcoma 1 1 HMGA2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 361 Skeletal system disease Skeletal system disorder 1 1 SHH (2) 0.25000 1.00000 1.948e-4 5.325e-4 Smith-magenis syndrome syndromic X-linked intellectual disability Snyder type 1 1 SMS (2) 0.25000 1.00000 1.948e-4 5.325e-4 285 Cardiac tamponade Spinal cord compression 1 1 PLAT (2) 0.25000 1.00000 1.948e-4 5.325e-4 29 Spinocerebellar ataxia, x-linked X-linked non progressive cerebellar ataxia 1 1 ATP2B3 (5) 0.25000 1.00000 1.948e-4 5.325e-4 422 Seminoma Splenic neoplasms 1 0 HRAS (1) 0.25000 1.00000 1.948e-4 5.325e-4 17 Coronal craniosynostosis Sweeney-cox syndrome 1 1 TWIST1 (4) 0.25000 1.00000 1.948e-4 5.325e-4 250 Saethre-chotzen syndrome Sweeney-cox syndrome 1 1 TWIST1 (6) 0.25000 1.00000 1.948e-4 5.325e-4 Synpolydactyly Zygodactyly 1 1 HOXD13 (5) 0.25000 1.00000 1.948e-4 5.325e-4 111 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 5.325e-4 222 Myoclonus-renal failure syndrome Unverricht-lundborg syndrome 1 1 SCARB2 (3) 0.25000 1.00000 1.948e-4 5.325e-4 339 Hyperkalemic periodic paralysis Myotonia congenita 1 1 CLCN1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 Neonatal convulsions Sensorineural hearing loss thrombocytopenia syndrome 1 1 DIAPH1 (3) 0.25000 1.00000 1.948e-4 5.325e-4 157 Neonatal convulsions progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 1 DIAPH1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 157 Neonatal convulsions Schilder disease 1 1 POLG (2) 0.25000 1.00000 1.948e-4 5.325e-4 Neovascular inflammatory vitreoretinopathy Vitreoretinopathy 1 1 CAPN5 (7) 0.25000 1.00000 1.948e-4 5.325e-4 Nephropathic cystinosis Ocular cystinosis 1 1 CTNS (5) 0.25000 1.00000 1.948e-4 5.325e-4 Neurofibrosarcoma Schimmelpenning-feuerstein-mims syndrome 1 1 NRAS (2) 0.25000 1.00000 1.948e-4 5.325e-4 17 neurometabolic disorder due to serine deficiency Phosphoserine phosphatase deficiency 1 1 PSPH (3) 0.25000 1.00000 1.948e-4 5.325e-4 Neuropathic spinal arthropathy Rupture, spontaneous 1 1 COL5A1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Neuropathic spinal arthropathy Simpson syndrome 1 1 KAT6B (2) 0.25000 1.00000 1.948e-4 5.325e-4 Mandibuloacral dysostosis obsolete lethal restrictive dermopathy 1 1 ZMPSTE24 (2) 0.25000 1.00000 1.948e-4 5.325e-4 obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis Xerocytosis 1 1 PIEZO1 (2) 0.25000 1.00000 1.948e-4 5.325e-4 431 Oropharyngeal dysphagia Spinocerebellar ataxia, x-linked 1 1 ATP2B3 (3) 0.25000 1.00000 1.948e-4 5.325e-4 422 Osteoglophonic dwarfism Pfeiffer syndrome 1 1 FGFR1 (7) 0.25000 1.00000 1.948e-4 5.325e-4 Osteoglophonic dysplasia Pfeiffer syndrome 1 1 FGFR1 (7) 0.25000 1.00000 1.948e-4 5.325e-4 Osteolysis, hereditary multicentric Torg-winchester syndrome 1 1 MMP2 (2) 0.25000 1.00000 1.948e-4 5.325e-4 Osteoma cutis Primary bilateral macronodular adrenal hyperplasia 1 1 GNAS (2) 0.25000 1.00000 1.948e-4 5.325e-4 Burkitt lymphoma Coffin-siris syndrome 2 2 ARID1A (5), SMARCA4 (5) 0.05714 0.11765 1.940e-4 5.325e-4 Emphysema Hepatic insufficiency 2 0 NFE2L2 (1), NOS2 (1) 0.04545 0.22222 1.894e-4 5.325e-4 Corneal ulcer Proliferative diabetic retinopathy 2 1 SERPINF1 (2), UTRN (1) 0.04545 0.22222 1.894e-4 5.325e-4 Retinal detachment Rhegmatogenous retinal detachment 2 1 COL2A1 (3), FAT3 (1) 0.03846 0.28571 1.816e-4 5.325e-4 Glycogen storage disease Ventricular dysfunction 3 3 TNNT2 (2), PIK3CA (2), GAA (7) 0.03704 0.08108 1.806e-4 5.325e-4 Dyslipidemias Osteopetrosis 2 2 TNFRSF11A (6), TCIRG1 (8) 0.05882 0.11765 1.737e-4 5.201e-4 Gastroparesis Internet addiction disorder 2 1 PRKG1 (1), NRG1 (2) 0.05263 0.18182 1.736e-4 5.198e-4 Brain infarction Ventricular dysfunction 3 3 ALDH2 (2), PLAT (2), SIRT1 (2) 0.03750 0.08333 1.663e-4 4.979e-4 Combined immunodeficiency disease Tubular aggregate myopathy 2 2 ORAI1 (5), STIM1 (5) 0.04000 0.28571 1.661e-4 4.974e-4 Amblyopia Eye neoplasms 2 0 NPLOC4 (1), OCA2 (1) 0.05556 0.16667 1.654e-4 4.954e-4 Esophageal disease Esotropia 2 2 SOD2 (3), TRPV1 (2) 0.05128 0.20000 1.635e-4 4.900e-4 Cerebellar ataxia Diencephalic mesencephalic junction dysplasia 2 1 PCDH12 (5), RNF14 (1) 0.01724 0.66667 1.622e-4 4.861e-4 B-cell chronic lymphocytic leukemia Diamond-blackfan anemia 2 2 TP53 (2), RPS15 (2) 0.04545 0.25000 1.559e-4 4.672e-4 Lymphoid leukemia Ocular sarcoidosis 3 0 ALDH1A2 (1), LIPC (1), HLA-DQB1 (1) 0.03571 0.10714 1.554e-4 4.658e-4 Hyperopia Vertebral, cardiac, renal, and limb defects syndrome 2 2 KYNU (6), NADSYN1 (5) 0.02439 0.50000 1.549e-4 4.644e-4 Loeys-dietz syndrome Thoracic aortic aneurysm 2 2 FBN1 (2), SMAD6 (2) 0.06061 0.12500 1.534e-4 4.599e-4 Gliosarcoma Hemangiosarcoma 2 1 TP53 (2), VEGFA (1) 0.06061 0.12500 1.534e-4 4.599e-4 Melas syndrome Mitochondrial encephalomyopathy 2 1 POLG (1), CYTB (2) 0.06061 0.12500 1.534e-4 4.599e-4 Body weight Diabetic nephropathy type 2 2 2 CDKAL1 (2), FTO (2) 0.06061 0.12500 1.534e-4 4.599e-4 Glycosylphosphatidylinositol biosynthesis defect Uranostaphyloschisis 2 1 MYO19 (1), PIGW (2) 0.05714 0.16667 1.522e-4 4.566e-4 Lipoma Uterine polyp 2 0 TERT (1), ACTRT3 (1) 0.05714 0.16667 1.522e-4 4.566e-4 138 Urinary system neoplasms Uterine polyp 2 0 TERT (1), ACTRT3 (1) 0.05714 0.16667 1.522e-4 4.566e-4 Hypospadias Porphyria cutanea tarda 2 0 GSTM1 (1), CYP1A1 (1) 0.04167 0.28571 1.512e-4 4.538e-4 Cerebral arteriovenous malformations Costello syndrome 2 2 BRAF (3), KRAS (4) 0.05882 0.15385 1.506e-4 4.519e-4 Congenital epicanthus Cryptorchidism 2 0 ANKRD11 (1), KAT6B (1) 0.06061 0.14286 1.445e-4 4.338e-4 Congenital hydrocephalus Fraser syndrome 2 1 WDR81 (3), PTCH1 (1) 0.06061 0.14286 1.445e-4 4.338e-4 Paraquat lung disease Pulmonary fibrosis 2 2 SMAD7 (2), SKIL (2) 0.01835 0.66667 1.429e-4 4.290e-4 Epithelial ovarian carcinoma Keratosis 2 2 TP53 (2), GSTM1 (2) 0.05405 0.20000 1.422e-4 4.271e-4 Hepatic insufficiency Pancreatic ductal carcinoma 2 0 NFE2L2 (1), RELA (1) 0.05128 0.22222 1.400e-4 4.205e-4 80 Biliary atresia Haddad syndrome 2 2 PAH (2), EDN3 (2) 0.05128 0.22222 1.400e-4 4.205e-4 331 Biliary atresia Congenital central hypoventilation syndrome 2 2 PAH (2), EDN3 (4) 0.05128 0.22222 1.400e-4 4.205e-4 331 Conduct disorder Spondylosis 3 0 LIG4 (1), NALF1 (1), PTPRD (1) 0.03750 0.10000 1.383e-4 4.156e-4 Cone rod dystrophy and hearing loss Optic atrophy 2 2 CEP78 (5), CEP250 (5) 0.01099 1.00000 1.374e-4 4.130e-4 Eye abnormalities Loeys-dietz syndrome 2 2 TGFB2 (6), TGFBR2 (7) 0.06250 0.12500 1.364e-4 4.101e-4 Eye abnormalities Walker-warburg syndrome 2 2 CRPPA (3), COL4A1 (3) 0.06250 0.12500 1.364e-4 4.101e-4 40 Cystitis Nuclear cataract 2 2 CRYBB2 (2), CRYBB3 (2) 0.06250 0.13333 1.343e-4 4.038e-4 Amnesia Cystitis 2 2 NGF (2), POMC (2) 0.06250 0.13333 1.343e-4 4.038e-4 Esophageal atresia Genetic predisposition to disease 3 3 TERT (2), GSTM1 (2), CACNA1C (2) 0.03846 0.09375 1.323e-4 3.980e-4 Auricle malformation Strabismus 2 0 KMT2D (1), PTPN11 (1) 0.04878 0.25000 1.314e-4 3.953e-4 Blepharoptosis Congenital epicanthus 2 0 ANKRD11 (1), PTPN11 (1) 0.06250 0.14286 1.301e-4 3.915e-4 Bilateral generalized polymicrogyria microcephalic primordial dwarfism due to RTTN deficiency 1 1 RTTN (3) 0.33333 1.00000 1.299e-4 3.908e-4 Bilateral parasagittal parieto-occipital polymicrogyria Yunis-varon syndrome 1 1 FIG4 (7) 0.33333 1.00000 1.299e-4 3.908e-4 311 Bilateral vestibulopathy Cerebellar ataxia, neuropathy, and vestibular areflexia 1 1 RFC1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 243 Birk-barel syndrome cataract 50 with or without glaucoma 1 1 TRPM3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 122 Biventricular noncompaction cardiomyopathy Ebstein anomaly 1 1 MYH7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 104 Biventricular noncompaction cardiomyopathy Parieto-occipital craniosynostosis 1 0 MYH7 (1) 0.33333 1.00000 1.299e-4 3.908e-4 104 Bladder neck obstruction Carcinoma in situ 1 1 PTGS2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 215 Bladder neck obstruction Urinary bladder neck obstruction 1 1 PTGS2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 215 Bleeding esophageal varices Sweat gland disease 1 1 SST (2) 0.33333 1.00000 1.299e-4 3.908e-4 340 Blepharocheilodontic syndrome Hereditary diffuse gastric and lobular breast cancer syndrome 1 1 CDH1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 165 Blepharophimosis intellectual disability syndrome Oculocerebrofacial syndrome 1 1 UBE3B (4) 0.33333 1.00000 1.299e-4 3.908e-4 Blepharophimosis-ptosis-epicanthus inversus syndrome Granulosa cell tumor of ovary 1 1 FOXL2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 216 Bloch sulzberger syndrome G6PD deficiency 1 1 G6PD (2) 0.33333 1.00000 1.299e-4 3.908e-4 12 Blue rubber bleb nevus syndrome Bockenheimer syndrome 1 1 TEK (2) 0.33333 1.00000 1.299e-4 3.908e-4 257 Blue rubber bleb nevus syndrome Mucocutaneous venous malformations 1 1 TEK (2) 0.33333 1.00000 1.299e-4 3.908e-4 257 Blue rubber bleb nevus syndrome TEK-related primary glaucoma 1 1 TEK (3) 0.33333 1.00000 1.299e-4 3.908e-4 257 Bmpr1a-related juvenile polyposis Myhre syndrome 1 1 SMAD4 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Bmpr1a-related juvenile polyposis juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 1 SMAD4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Bnar syndrome Craniofaciosynostosis 1 1 FREM1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 139 Bockenheimer syndrome Venous malformation 1 1 TEK (3) 0.33333 1.00000 1.299e-4 3.908e-4 257 Bohring syndrome Bohring-opitz syndrome 1 1 ASXL1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 343 Bohring syndrome Bohring-opitz-like syndrome 1 1 KLHL7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 343 Bohring syndrome Perching syndrome 1 1 KLHL7 (4) 0.33333 1.00000 1.299e-4 3.908e-4 343 Boichis syndrome Rhyns syndrome 1 1 TMEM67 (4) 0.33333 1.00000 1.299e-4 3.908e-4 315 Bombay phenotype Vitamin b12-unresponsive methylmalonic acidemia 1 1 FUT2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 100 Bone dysplasia with increased bone density Sclerosteosis 1 1 SOST (7) 0.33333 1.00000 1.299e-4 3.908e-4 Bone dysplasia with increased bone density Van buchem disease 1 0 SOST (1) 0.33333 1.00000 1.299e-4 3.908e-4 123 Atelosteogenesis Boomerang dysplasia 1 1 FLNB (6) 0.33333 1.00000 1.299e-4 3.908e-4 Bosma arhinia microphthalmia syndrome Chediak-higashi syndrome 1 1 SMCHD1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 324 Brachydactyly-syndactyly syndrome Hemimelia of limb 1 1 HOXD13 (5) 0.33333 1.00000 1.299e-4 3.908e-4 111 Brachymesophalangy Hemimelia of limb 1 0 HOXD13 (1) 0.33333 1.00000 1.299e-4 3.908e-4 111 Brachytelephalangic chondrodysplasia punctata X-linked chondrodysplasia punctata 1 1 ARSL (6) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 346 Brain compression Breast cyst 1 0 CACNA1D (1) 0.33333 1.00000 1.299e-4 3.908e-4 116 Brain compression Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 1 1 CACNA1D (3) 0.33333 1.00000 1.299e-4 3.908e-4 116 Brain compression sinoatrial node dysfunction and deafness 1 1 CACNA1D (2) 0.33333 1.00000 1.299e-4 3.908e-4 116 Brain tumor-polyposis syndrome Cenani-lenz syndrome 1 1 APC (3) 0.33333 1.00000 1.299e-4 3.908e-4 37 Brain-lung-thyroid syndrome Choreatic disease 1 1 NKX2-1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Branchiooculofacial syndrome Cayler cardiofacial syndrome 1 1 EYA1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 134 Branchiootic syndrome Cayler cardiofacial syndrome 1 1 EYA1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 134 Branchioskeletogenital syndrome Teebi syndrome 1 1 CDH11 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Branchioskeletogenital syndrome Elsahy-waters syndrome 1 1 CDH11 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Bresek syndrome Keratosis follicularis spinulosa decalvans, x-linked 1 1 MBTPS2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 346 Bresek syndrome Olmsted syndrome, x-linked 1 1 MBTPS2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 346 Bruton type agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency 1 1 BTK (5) 0.33333 1.00000 1.299e-4 3.908e-4 406 Bryant-li-bhoj neurodevelopmental syndrome Chondroblastoma 1 1 H3-3B (5) 0.33333 1.00000 1.299e-4 3.908e-4 Bryant-li-bhoj neurodevelopmental syndrome Hemiparkinsonism hemiatrophy syndrome 1 1 H3-3B (4) 0.33333 1.00000 1.299e-4 3.908e-4 Bryant-li-bhoj neurodevelopmental syndrome Giant cell tumor of bone 1 1 H3-3A (5) 0.33333 1.00000 1.299e-4 3.908e-4 Bullous pyoderma gangrenosum Sweet syndrome 1 1 PTPN6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Butyryl-coa dehydrogenase deficiency short chain acyl-coa dehydrogenase deficiency 1 1 ACADS (3) 0.33333 1.00000 1.299e-4 3.908e-4 Butyrylcholinesterase deficiency Paresis 1 1 BCHE (5) 0.33333 1.00000 1.299e-4 3.908e-4 397 CACNA1F-related retinopathy Cone-rod dystrophy, x-linked 1 1 CACNA1F (4) 0.33333 1.00000 1.299e-4 3.908e-4 CACNA1F-related retinopathy X-linked cone-rod dystrophy 1 1 CACNA1F (3) 0.33333 1.00000 1.299e-4 3.908e-4 Caffey disease Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 1 COL1A1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 93 Caffey disease Cortical congenital hyperostosis 1 1 COL1A1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 93 Camurati-engelmann syndrome Peritoneal fibrosis 1 1 TGFB1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Camurati-engelmann syndrome inflammatory bowel disease, immunodeficiency, and encephalopathy 1 1 TGFB1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Camurati-engelmann syndrome Worth syndrome 1 1 LRP5 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 123 Camurati-engelmann syndrome LRP5-related exudative vitreoretinopathy 1 1 LRP5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 123 Canavan disease Genetic infertility 1 1 SPATA22 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Cantu syndrome Intellectual disability and myopathy syndrome 1 1 ABCC9 (6) 0.33333 1.00000 1.299e-4 3.908e-4 234 Cantu syndrome hypertrichotic osteochondrodysplasia Cantu type 1 1 ABCC9 (5) 0.33333 1.00000 1.299e-4 3.908e-4 234 Cantu syndrome dilated cardiomyopathy 1O 1 1 ABCC9 (5) 0.33333 1.00000 1.299e-4 3.908e-4 234 Capillary-lymphatic-venous malformation Clapo syndrome 1 1 PIK3CA (3) 0.33333 1.00000 1.299e-4 3.908e-4 53 Capillary-lymphatic-venous malformation Cloves syndrome 1 1 PIK3CA (2) 0.33333 1.00000 1.299e-4 3.908e-4 53 Capillary-lymphatic-venous malformation Congenital intestinal duplication 1 1 PIK3CA (2) 0.33333 1.00000 1.299e-4 3.908e-4 53 Capillary-lymphatic-venous malformation Congenital macrodactylia 1 1 PIK3CA (3) 0.33333 1.00000 1.299e-4 3.908e-4 53 Capillary-lymphatic-venous malformation Congenital malformation syndromes involving early overgrowth 1 1 PIK3CA (2) 0.33333 1.00000 1.299e-4 3.908e-4 53 Carasil syndrome Malignant peripheral nerve sheath tumor 1 1 HTRA1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Carasil syndrome Malignant triton tumor 1 1 HTRA1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Carbamoyl phosphate synthetase deficiency Congenital hyperammonemia 1 1 CPS1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 Carbamoyl phosphate synthetase deficiency developmental and epileptic encephalopathy, 50 1 1 CAD (2) 0.33333 1.00000 1.299e-4 3.908e-4 347 Carbohydrate deficient glycoprotein syndrome MAN1B1-congenital disorder of glycosylation 1 1 MAN1B1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Carbohydrate deficient glycoprotein syndrome TMEM165-congenital disorder of glycosylation 1 1 TMEM165 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Cardiac anomalies - developmental delay - facial dysmorphism syndrome Congenital camptodactyly 1 1 MED13L (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Cardiac rhythm disease dilated cardiomyopathy 1E 1 1 SCN5A (2) 0.33333 1.00000 1.299e-4 3.908e-4 140 Cardiac rhythm disease SCN5A-related cardiac rhythm disorder 1 1 SCN5A (2) 0.33333 1.00000 1.299e-4 3.908e-4 140 Aphasia Cardiac tamponade 1 1 PLAT (2) 0.33333 1.00000 1.299e-4 3.908e-4 29 Cardiac tamponade Postictal aphasia 1 1 PLAT (2) 0.33333 1.00000 1.299e-4 3.908e-4 29 Cardiac tamponade Cholesterol embolism 1 1 PLAT (2) 0.33333 1.00000 1.299e-4 3.908e-4 29 Cardiac tamponade Commisural aphasia 1 1 PLAT (2) 0.33333 1.00000 1.299e-4 3.908e-4 29 Cardiac tamponade Dejerine-lichtheim phenomenon 1 1 PLAT (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 Carvajal syndrome Lethal acantholytic epidermolysis bullosa 1 1 DSP (3) 0.33333 1.00000 1.299e-4 3.908e-4 206 Carvajal syndrome Ventricular arrhythmia 1 1 DSP (2) 0.33333 1.00000 1.299e-4 3.908e-4 206 Cataplexy Ophthalmoplegia 1 0 NPC1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 231 cataract 50 with or without glaucoma Cataract-glaucoma syndrome 1 1 TRPM3 (3) 0.33333 1.00000 1.299e-4 3.908e-4 122 Cataract-corneal dystrophy syndrome Congenital aniridia 1 1 PAX6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Cataract-corneal dystrophy syndrome Optic nerve disorder 1 0 PAX6 (1) 0.33333 1.00000 1.299e-4 3.908e-4 25 Cataract-corneal dystrophy syndrome Gillespie syndrome 1 0 PAX6 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Cataract-glaucoma syndrome Congenital cataract anterior segment dysgenesis syndrome 1 1 PITX3 (3) 0.33333 1.00000 1.299e-4 3.908e-4 122 COL1A1-related Ehlers-Danlos syndrome Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 1 COL1A1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 93 COL1A1-related Ehlers-Danlos syndrome Cortical congenital hyperostosis 1 1 COL1A1 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 COL1A2-related osteogenesis imperfecta Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 1 COL1A2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 COL4A1-related disorder Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 1 1 COL4A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 33 Cerebral small vessel disease COL4A1-related disorder 1 1 COL4A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 33 Colchicine resistance Familial mediterranean fever 1 1 ABCB1 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-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 3.908e-4 419 Colonic disease Growth hormone insensitivity, partial 1 1 GHR (2) 0.33333 1.00000 1.299e-4 3.908e-4 Colonic disease Growth hormone insensitivity syndrome 1 0 GHR (1) 0.33333 1.00000 1.299e-4 3.908e-4 colorectal cancer, hereditary nonpolyposis, type 7 Intestinal polyposis 1 1 MLH3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Colpocephaly Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 1 1 COL4A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 33 Cerebral small vessel disease Colpocephaly 1 0 COL4A1 (1) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 176 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 3.908e-4 Combined immunodeficiency with facio-oculo-skeletal anomalies immunodeficiency 14b, autosomal recessive 1 1 PIK3CD (3) 0.33333 1.00000 1.299e-4 3.908e-4 375 Combined immunodeficiency with facio-oculo-skeletal anomalies immunodeficiency 14 1 1 PIK3CD (3) 0.33333 1.00000 1.299e-4 3.908e-4 375 Combined immunodeficiency with skin granulomas recombinase activating gene 1 deficiency 1 1 RAG1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 176 Combined immunodeficiency with skin granulomas recombinase activating gene 2 deficiency 1 1 RAG2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 176 Combined immunodeficiency-multiple intestinal atresia Multiple intestinal atresia 1 1 TTC7A (3) 0.33333 1.00000 1.299e-4 3.908e-4 269 Combined immunodeficiency, x-linked X-linked severe combined immunodeficiency 1 1 IL2RG (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Combined malonic and methylmalonic acidemia Malonic aciduria 1 1 ACSF3 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Combined malonic and methylmalonic aciduria Malonic aciduria 1 1 ACSF3 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Combined osteogenesis imperfecta and ehlers-danlos syndrome Maternal hypertension 1 1 COL1A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 93 Combined osteogenesis imperfecta and ehlers-danlos syndrome Rhizomelia 1 1 COL1A1 (4) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Combined psap deficiency Combined saposin deficiency 1 1 PSAP (6) 0.33333 1.00000 1.299e-4 3.908e-4 114 Combined saposin deficiency Gaucher disease due to saposin C deficiency 1 1 PSAP (4) 0.33333 1.00000 1.299e-4 3.908e-4 114 Combined saposin deficiency Krabbe disease due to saposin A deficiency 1 1 PSAP (4) 0.33333 1.00000 1.299e-4 3.908e-4 114 Common arterial trunk with aortic dominance Conotruncal anomaly face syndrome 1 1 TBX1 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-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 3.908e-4 290 Common atrium Ebstein anomaly 1 0 CDK8 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Complex spastic paraplegia De barsy syndrome 1 1 ALDH18A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Complex spastic paraplegia P5CS deficiency 1 1 ALDH18A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Cone dystrophy, x-linked red-green color blindness 1 1 OPN1MW (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Cone dystrophy, x-linked RPGR-related retinopathy 1 1 RPGR (2) 0.33333 1.00000 1.299e-4 3.908e-4 Cone monochromatism red color blindness 1 1 OPN1LW (3) 0.33333 1.00000 1.299e-4 3.908e-4 217 Cone monochromatism red-green color blindness 1 1 OPN1MW (3) 0.33333 1.00000 1.299e-4 3.908e-4 217 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 3.908e-4 385 Congenital amegakaryocytic thrombocytopenia Thrombocythemia with distal limb defects 1 1 THPO (5) 0.33333 1.00000 1.299e-4 3.908e-4 98 Congenital aniridia Denys drash syndrome 1 1 WT1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 86 Congenital aniridia Drash syndrome 1 0 WT1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 86 Congenital aniridia wilms tumor 1 1 1 WT1 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Congenital aortic valve atresia Intellectual developmental disorder seizures hypotonia skeletal 1 1 FOXP1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 267 Congenital asplenia Interrupted aortic arch 1 1 NKX2-5 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 166 Congenital aural atresia Congenital external auditory canal atresia 1 1 TSHZ1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital aural atresia Cutis gyrata syndrome 1 1 FGFR2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 38 Congenital camptodactyly Developmental delay with facial dysmorphism syndrome 1 1 MED13L (2) 0.33333 1.00000 1.299e-4 3.908e-4 56 Congenital central hypothyroidism Thyroid hormone resistance 1 1 TRHR (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital cleft hand Congenital malformation syndromes predominantly involving limbs 1 0 DLX5 (1) 0.33333 1.00000 1.299e-4 3.908e-4 195 Congenital digestive system anomaly Medullary carcinoma 1 1 RET (2) 0.33333 1.00000 1.299e-4 3.908e-4 161 Congenital ectodermal dysplasia of face Focal facial dermal dysplasia 1 1 TWIST2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital epithelial dysplasia of intestine Congenital tufting enteropathy 1 1 EPCAM (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige Diffuse palmoplantar keratoderma 1 1 DSG1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital erythropoietic porphyria Dyserythropoietic anemia with thrombocytopenia 1 1 GATA1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 132 Congenital erythropoietic porphyria Thrombocytopenia with dyserythropoietic anemia 1 1 GATA1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 132 Congenital erythropoietic porphyria Dyserythropoietic anemia with abnormal platelets and neutropenia 1 1 GATA1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 132 Congenital external auditory canal atresia Congenital vertical talus 1 1 TSHZ1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital factor ii deficiency Hemophilia b 1 1 F2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 408 Congenital factor v deficiency Factor v deficiency 1 1 F5 (7) 0.33333 1.00000 1.299e-4 3.908e-4 84 Congenital folate absorption defect Hereditary folate malabsorption 1 1 SLC46A1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 428 Congenital glucose-galactose malabsorption Renal glycosuria 1 1 SLC5A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 congenital heart defects, multiple types, 2 Stress urinary incontinence 1 1 TAB2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Perisylvian polymicrogyria 1 1 NSDHL (3) 0.33333 1.00000 1.299e-4 3.908e-4 398 Congenital hernia of foramen of bochdalek Visual system disorder 1 1 EFEMP1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 152 Congenital hypoplasia of aortic arch Cystathionine beta-synthase deficiency 1 0 PKHD1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 74 Congenital hypoplasia of femur joubert syndrome 1 1 1 INPP5E (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital hypoplasia of femur MORM syndrome 1 1 INPP5E (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital hypoplastic anemia developmental and epileptic encephalopathy, 50 1 1 CAD (2) 0.33333 1.00000 1.299e-4 3.908e-4 347 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Elsahy-waters syndrome 1 1 ELOVL4 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital idiopathic intestinal pseudoobstruction Congenital short bowel syndrome 1 1 FLNA (2) 0.33333 1.00000 1.299e-4 3.908e-4 42 Congenital isolated growth hormone deficiency Isolated somatotropin deficiency 1 1 GH1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital keratoglobus Microspherophakia 1 1 LTBP2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital keratoglobus glaucoma 3, primary congenital, d 1 1 LTBP2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital lipoid adrenal hyperplasia Toe syndactyly-telecanthus-anogenital and renal malformations syndrome 1 1 STAR (4) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital malformation syndromes predominantly involving limbs Waardenburg anophthalmia syndrome 1 0 SMOC1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 195 Congenital mesoblastic nephroma thrombocytopenia 5 1 1 ETV6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital methemoglobinemia Dihydrolipoamide dehydrogenase deficiency 1 0 CYB5R3 (1) 0.33333 1.00000 1.299e-4 3.908e-4 429 Caudate atrophy Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 1 TYROBP (5) 0.33333 1.00000 1.299e-4 3.908e-4 348 Cavitary optic disc anomalies Cavitary optic disk anomaly 1 1 MMP19 (5) 0.33333 1.00000 1.299e-4 3.908e-4 125 Cavitary optic disk anomaly Dysbetalipoproteinemia 1 1 APOE (2) 0.33333 1.00000 1.299e-4 3.908e-4 125 Cayler cardiofacial syndrome Otofaciocervical syndrome 1 1 EYA1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 134 Cenani-lenz syndrome Familial adenomatous polyposis 1 1 APC (3) 0.33333 1.00000 1.299e-4 3.908e-4 37 Cenani-lenz syndrome gastric adenocarcinoma and proximal polyposis of the stomach 1 1 APC (3) 0.33333 1.00000 1.299e-4 3.908e-4 37 Cenani-lenz syndrome congenital myasthenic syndrome 17 1 1 LRP4 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Central core disease Malignant hyperthermia 1 1 RYR1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 268 Central core myopathy Malignant hyperthermia 1 1 RYR1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 268 Central nervous system neoplasms Choroid plexus carcinoma 1 1 TP53 (3) 0.33333 1.00000 1.299e-4 3.908e-4 88 Central nervous system neoplasms Choroid plexus papilloma 1 1 TP53 (3) 0.33333 1.00000 1.299e-4 3.908e-4 88 Central nervous system neoplasms Mucoepidermoid carcinoma 1 0 BAP1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Central retinal vein occlusion Congenital thrombotic thrombocytopenic purpura 1 1 PROC (2) 0.33333 1.00000 1.299e-4 3.908e-4 325 Ataxia-hypogonadism-choroidal dystrophy syndrome Cerebellar ataxia and hypogonadotropic hypogonadism 1 1 PNPLA6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 121 Boucher-neuhauser syndrome Cerebellar ataxia and hypogonadotropic hypogonadism 1 1 PNPLA6 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 121 Cerebellar ataxia and hypogonadotropic hypogonadism Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 1 PNPLA6 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 243 Ataxia-hypogonadism-choroidal dystrophy syndrome Cerebellar ataxia-hypogonadism 1 1 PNPLA6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 121 Boucher-neuhauser syndrome Cerebellar ataxia-hypogonadism 1 1 PNPLA6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 121 Cerebellar ataxia-hypogonadism Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome 1 1 PNPLA6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 121 Cerebellar ataxia-hypogonadism Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 1 PNPLA6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 121 Cerebellar malformation Rhyns syndrome 1 1 TMEM67 (4) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Cerebelloparenchymal disorder Normal pressure hydrocephalus 1 1 PMPCA (2) 0.33333 1.00000 1.299e-4 3.908e-4 158 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 Myofibromatosis 1 1 NOTCH3 (4) 0.33333 1.00000 1.299e-4 3.908e-4 374 Cerebral folate deficiency neurodegenerative syndrome due to cerebral folate transport deficiency 1 1 FOLR1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Cerebral small vessel disease Familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 COL4A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 33 Cerebrofacioarticular syndrome FAT4-related neurodevelopmental disorder 1 1 FAT4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Cerebrotendinous xanthomatosis Xanthomatosis 1 1 CYP27A1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Cervical dysplasia Microvascular angina 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Cervical dysplasia homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Charcot-Marie-Tooth disease type 2A2 Nail dystrophy 1 1 MFN2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 CHEK2-related cancer predisposition Osteogenic sarcoma 1 1 CHEK2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Childhood hypophosphatasia Hypophosphatasia 1 1 ALPL (6) 0.33333 1.00000 1.299e-4 3.908e-4 388 Childhood hypophosphatasia Micromelia 1 1 ALPL (3) 0.33333 1.00000 1.299e-4 3.908e-4 388 Childhood kidney wilms tumor CTR9-related neurodevelopmental disorder 1 1 CTR9 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Childhood-onset basal ganglia degeneration syndrome Yunis-varon syndrome 1 1 VAC14 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Childhood-onset glut1 deficiency syndrome 2 Glucose transporter type 1 deficiency syndrome 1 1 SLC2A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Childhood-onset glut1 deficiency syndrome 2 Epilepsy with myoclonic absence 1 1 SLC2A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Childhood-onset spinal muscular atrophy Hereditary axonal motor and sensory neuropathy 1 1 BICD2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Cholestanol storage disease Xanthomatosis 1 1 CYP27A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Cholesterol embolism quebec platelet disorder 1 1 PLAU (2) 0.33333 1.00000 1.299e-4 3.908e-4 29 Chondromyxoid fibroma Congenital cerebellar ataxia 1 0 GRM1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Choreatic disease Dyskinesia with orofacial involvement 1 1 ADCY5 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Choreatic disease Dyskinesia, familial, with facial myokymia 1 1 ADCY5 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Choroid diseases Panuveitis 1 0 IL10 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Choroid plexus carcinoma Chromosome 17 deletion 1 1 TP53 (3) 0.33333 1.00000 1.299e-4 3.908e-4 88 Choroid plexus carcinoma Vulvar lichen sclerosus 1 1 TP53 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Choroid plexus papilloma Chromosome 17 deletion 1 1 TP53 (3) 0.33333 1.00000 1.299e-4 3.908e-4 88 Choroid plexus papilloma Vulvar lichen sclerosus 1 1 TP53 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Choroidal dystrophy PRPH2-related retinopathy 1 1 PRPH2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 69 Choroidal dystrophy GUCY2D-related dominant retinopathy 1 1 GUCY2D (4) 0.33333 1.00000 1.299e-4 3.908e-4 69 Choroidal dystrophy GUCY2D-related recessive retinopathy 1 1 GUCY2D (4) 0.33333 1.00000 1.299e-4 3.908e-4 69 Choroidal sclerosis PRPH2-related retinopathy 1 1 PRPH2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 69 Choroidal sclerosis GUCY2D-related dominant retinopathy 1 1 GUCY2D (3) 0.33333 1.00000 1.299e-4 3.908e-4 69 Choroidal sclerosis GUCY2D-related recessive retinopathy 1 1 GUCY2D (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 280 Chromophobe renal cell carcinoma Hepatic adenoma 1 1 HNF1A (5) 0.33333 1.00000 1.299e-4 3.908e-4 Chromophobe renal cell carcinoma Insulin resistant diabetes mellitus 1 1 HNF1A (2) 0.33333 1.00000 1.299e-4 3.908e-4 Chromosome 15q24 deletion syndrome Witteveen-kolk syndrome 1 1 SIN3A (4) 0.33333 1.00000 1.299e-4 3.908e-4 362 Chromosome 16p11.2 deletion syndrome interstitial lung disease 1 1 1 SFTPA1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Chromosome 16p11.2 deletion syndrome Chromosome 16p11.2 microdeletion syndrome 1 1 SH2B1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Chromosome 17 deletion koolen-de vries syndrome 1 1 KANSL1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Chromosome 17q23.1-q23.2 deletion syndrome Cryohydrocytosis 1 1 SLC2A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 99 Chromosome 17q23.1-q23.2 duplication syndrome Patellar aplasia 1 0 TBX4 (1) 0.33333 1.00000 1.299e-4 3.908e-4 27 Chromosome 1q21.1 deletion syndrome Congenital sclerocornea 1 1 GJA8 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Chromosome 22q11.2 microduplication syndrome Common arterial trunk with aortic dominance 1 1 TBX1 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 290 Chromosome 2q32-q33 deletion syndrome Glass syndrome 1 1 SATB2 (4) 0.33333 1.00000 1.299e-4 3.908e-4 197 Chromosome 2q32-q33 deletion syndrome Satb2 associated syndrome 1 1 SATB2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 197 Chromosome 6q24-q25 deletion syndrome Stress urinary incontinence 1 0 TAB2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Chromosome 8p23.1 monosomy Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 1 GATA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 106 Chromosome 8p23.1 monosomy Partial atrioventricular canal defect 1 1 GATA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 106 Chromosome xq27.3-q28 duplication syndrome Xq27.3 q28 duplication syndrome 1 1 FMR1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Congenital sodium diarrhea 1 1 GUCY2C (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Chuvash erythrocytosis Pancreatic cyst 1 1 VHL (4) 0.33333 1.00000 1.299e-4 3.908e-4 403 Ciliary dyskinesia with retinitis pigmentosa Cone dystrophy, x-linked 1 1 RPGR (3) 0.33333 1.00000 1.299e-4 3.908e-4 Ciliary dyskinesia with retinitis pigmentosa Cone-rod dystrophy, x-linked 1 1 RPGR (5) 0.33333 1.00000 1.299e-4 3.908e-4 385 Ciliary dyskinesia with retinitis pigmentosa X-linked cone-rod dystrophy 1 1 RPGR (4) 0.33333 1.00000 1.299e-4 3.908e-4 385 Ck syndrome Perisylvian polymicrogyria 1 1 NSDHL (7) 0.33333 1.00000 1.299e-4 3.908e-4 398 Cleft face Culler-jones syndrome 1 1 GLI2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 169 Cleft face Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome 1 1 GLI2 (4) 0.33333 1.00000 1.299e-4 3.908e-4 169 Cleft face familial meningioma 1 1 SMARCE1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 169 Clouston syndrome Senter syndrome 1 1 GJB6 (4) 0.33333 1.00000 1.299e-4 3.908e-4 68 Coagulation factor deficiency syndrome Congenital factor xi deficiency 1 1 F11 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Coagulation factor deficiency syndrome Factor xi deficiency 1 1 F11 (3) 0.33333 1.00000 1.299e-4 3.908e-4 11p partial monosomy syndrome Congenital aniridia 1 0 WT1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 86 11p partial monosomy syndrome Desmoplastic small round cell tumor 1 1 WT1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 86 12q14 microdeletion syndrome silver-russell syndrome 5 1 1 HMGA2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 12q14 microdeletion syndrome Buschke-ollendorff syndrome 1 1 LEMD3 (5) 0.33333 1.00000 1.299e-4 3.908e-4 143 12q14 microdeletion syndrome Dermatofibrosis lenticularis disseminata 1 1 LEMD3 (3) 0.33333 1.00000 1.299e-4 3.908e-4 143 12q14 microdeletion syndrome Osteopoikilosis 1 1 LEMD3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 143 15q11q13 microduplication syndrome Duplication 15q11-q13 syndrome 1 1 UBE3A (2) 0.33333 1.00000 1.299e-4 3.908e-4 15q24 microdeletion Cleft palate cardiac defects impaired intellectual development 1 1 MEIS2 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 15q24 microdeletion Chromosome 15q24 deletion syndrome 1 1 SIN3A (3) 0.33333 1.00000 1.299e-4 3.908e-4 362 15q24 microdeletion SIN3A-related intellectual disability syndrome 1 1 SIN3A (3) 0.33333 1.00000 1.299e-4 3.908e-4 362 17,20-lyase deficiency Hyperkalemia 1 1 CYP17A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 17p13.3 microduplication syndrome Chromosome 17p13.3 microdeletion syndrome 1 1 YWHAE (2) 0.33333 1.00000 1.299e-4 3.908e-4 225 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 1 1 NF1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 71 17q11 microdeletion syndrome Cervical lymphadenopathy 1 1 NF1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 71 17q11 microdeletion syndrome Watson syndrome 1 1 NF1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 71 17q12 microdeletion syndrome Bilateral multicystic dysplastic kidney 1 0 HNF1B (1) 0.33333 1.00000 1.299e-4 3.908e-4 145 17q12 microdeletion syndrome Renal dysplasia 1 1 HNF1B (2) 0.33333 1.00000 1.299e-4 3.908e-4 145 17q12 microdeletion syndrome Giant cell tumor of tendon sheath 1 1 HNF1B (2) 0.33333 1.00000 1.299e-4 3.908e-4 145 17q12 microdeletion syndrome Multicystic dysplastic kidney 1 1 HNF1B (3) 0.33333 1.00000 1.299e-4 3.908e-4 145 17q21.31 microdeletion syndrome Chromosome 17 deletion 1 1 KANSL1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 17q23.1q23.2 microdeletion syndrome Patellar aplasia 1 1 TBX4 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 17q24.2 microdeletion syndrome stankiewicz-isidor syndrome 1 1 PSMD12 (3) 0.33333 1.00000 1.299e-4 3.908e-4 1p21.3 microdeletion syndrome Dihydropyrimidine metabolism disorder 1 1 DPYD (2) 0.33333 1.00000 1.299e-4 3.908e-4 365 2-aminoadipic 2-oxoadipic aciduria Lysine metabolism disorder 1 1 DHTKD1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 2-aminoadipic 2-oxoadipic aciduria Distal amyotrophy 1 1 DHTKD1 (6) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 22q13 monosomy syndrome Ventricular outflow obstruction 1 1 INS (2) 0.33333 1.00000 1.299e-4 3.908e-4 224 22q13 monosomy syndrome phelan-mcdermid syndrome 1 1 SHANK3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 224 A4GALT-congenital disorder of glycosylation Cortical congenital hyperostosis 1 1 A4GALT (2) 0.33333 1.00000 1.299e-4 3.908e-4 93 Aapoai amyloidosis Amyloid polyneuropathy 1 1 APOA1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Aapoai amyloidosis Apolipoprotein a-i deficiency 1 1 APOA1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 293 ABCA4-related retinopathy Diastolic heart failure 1 1 ABCA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 150 ABCA4-related retinopathy Retinopathy background 1 1 ABCA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 150 Ablepharon macrostomia syndrome Focal facial dermal dysplasia 1 1 TWIST2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Aceruloplasminemia Apoceruloplasmin deficiency 1 1 CP (3) 0.33333 1.00000 1.299e-4 3.908e-4 188 Acetyl-coa acetyltransferase deficiency Cytosolic acetoacetyl-coa thiolase deficiency 1 1 ACAT2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Acetyl-coa acetyltransferase deficiency Beta-ketothiolase deficiency 1 1 ACAT1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Acheiropody Triphalangeal thumb-polysyndactyly syndrome 1 1 LMBR1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Acrocallosal syndrome Tibial hemimelia 1 0 GLI3 (1) 0.33333 1.00000 1.299e-4 3.908e-4 192 Acrocallosal syndrome Cronkhite-canada syndrome 1 0 GLI3 (1) 0.33333 1.00000 1.299e-4 3.908e-4 192 Acrocallosal syndrome greig cephalopolysyndactyly syndrome 1 1 GLI3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 192 Acrodysostosis Chromosome 5q12 deletion syndrome 1 1 PDE4D (2) 0.33333 1.00000 1.299e-4 3.908e-4 Acrodysostosis Atrial myxoma 1 1 PRKAR1A (4) 0.33333 1.00000 1.299e-4 3.908e-4 Acromegaloid facial appearance syndrome Cantu syndrome 1 1 ABCC9 (5) 0.33333 1.00000 1.299e-4 3.908e-4 234 Acromegaly Chromosome xq26.3 duplication syndrome 1 1 GPR101 (3) 0.33333 1.00000 1.299e-4 3.908e-4 235 Acromegaly X-linked acrogigantism due to xq26 microduplication 1 1 GPR101 (2) 0.33333 1.00000 1.299e-4 3.908e-4 235 Acroosteolysis Myeloproliferative disease, unclassifiable 1 1 PDGFRB (2) 0.33333 1.00000 1.299e-4 3.908e-4 ACTB-associated syndromic thrombocytopenia Baraitser-winter cerebrofrontofacial syndrome 1 1 ACTB (6) 0.33333 1.00000 1.299e-4 3.908e-4 115 Adrenocortical carcinoma Central nervous system neoplasms 1 1 TP53 (2) 0.33333 1.00000 1.299e-4 3.908e-4 88 Adrenocortical carcinoma Chromosome 17 deletion 1 1 TP53 (2) 0.33333 1.00000 1.299e-4 3.908e-4 88 Adrenocortical carcinoma Vulvar lichen sclerosus 1 1 TP53 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Adrenoleukodystrophy X-linked cerebral adrenoleukodystrophy 1 1 ABCD1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Alagille syndrome Deafness with congenital heart defects and posterior embryotoxon 1 1 JAG1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 373 Alagille syndrome Hepatic ductular hypoplasia 1 1 JAG1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 373 Aland island eye disease Cone-rod dystrophy, x-linked 1 1 CACNA1F (3) 0.33333 1.00000 1.299e-4 3.908e-4 Aland island eye disease X-linked cone-rod dystrophy 1 1 CACNA1F (2) 0.33333 1.00000 1.299e-4 3.908e-4 Aldosterone-producing adenoma Brain compression 1 1 CACNA1D (2) 0.33333 1.00000 1.299e-4 3.908e-4 116 Alopecia universalis Atrichia with papular lesions 1 1 HR (6) 0.33333 1.00000 1.299e-4 3.908e-4 Alopecia-intellectual disability syndrome Amr syndrome 1 1 AHSG (2) 0.33333 1.00000 1.299e-4 3.908e-4 386 Alopecia-intellectual disability syndrome Palmoplantar keratoderma and congenital alopecia 1 1 LSS (3) 0.33333 1.00000 1.299e-4 3.908e-4 386 Alopecia-intellectual disability syndrome Cataract-alopecia-sclerodactyly syndrome 1 1 LSS (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 117 Alternating hemiplegia of childhood fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 1 1 ATP1A2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Alternating hemiplegia of childhood hemiplegic migraine-developmental and epileptic encephalopathy spectrum 1 1 ATP1A2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Alternating hemiplegia of childhood Capos syndrome 1 1 ATP1A3 (4) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 196 Alternating hemiplegia of childhood ATP1A3-associated neurological disorder 1 1 ATP1A3 (3) 0.33333 1.00000 1.299e-4 3.908e-4 196 Amegakaryocytic thrombocytopenia Thrombocythemia with distal limb defects 1 1 THPO (4) 0.33333 1.00000 1.299e-4 3.908e-4 98 Amelia Patellar aplasia 1 1 TBX4 (3) 0.33333 1.00000 1.299e-4 3.908e-4 27 Ameloblastoma Hairy cell leukemia 1 1 BRAF (2) 0.33333 1.00000 1.299e-4 3.908e-4 Ameloblastoma Congenital hypothalamic hamartoma syndrome 1 1 SMO (2) 0.33333 1.00000 1.299e-4 3.908e-4 297 Ameloblastoma Curry-jones syndrome 1 1 SMO (5) 0.33333 1.00000 1.299e-4 3.908e-4 297 Ameloblastoma Winter shortland temple syndrome 1 1 SMO (2) 0.33333 1.00000 1.299e-4 3.908e-4 297 Ameloblastoma mosaic SMO syndrome 1 1 SMO (2) 0.33333 1.00000 1.299e-4 3.908e-4 297 Aminoglycoside-induced deafness Infantile liver failure 1 1 TRMU (2) 0.33333 1.00000 1.299e-4 3.908e-4 Amish infantile epilepsy syndrome spinocerebellar ataxia type 2 1 1 ATXN2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Amish infantile epilepsy syndrome Salt and pepper developmental regression syndrome 1 1 ST3GAL5 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Amish infantile epilepsy syndrome GM3 synthase deficiency 1 1 ST3GAL5 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Amish lethal microcephaly Thiamine metabolism dysfunction syndrome 1 1 SLC25A19 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Amyloid polyneuropathy Apolipoprotein a-i amyloidosis 1 0 APOA1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Amyloid polyneuropathy Dystransthyretinemic euthyroidal hyperthyroxinemia 1 1 TTR (2) 0.33333 1.00000 1.299e-4 3.908e-4 185 Amyloid polyneuropathy Senile systemic amyloidosis 1 0 TTR (1) 0.33333 1.00000 1.299e-4 3.908e-4 185 Amyloid polyneuropathy Transthyretin amyloid cardiomyopathy 1 0 TTR (1) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 amyotrophic lateral sclerosis type 10 Masp2 deficiency 1 1 TARDBP (2) 0.33333 1.00000 1.299e-4 3.908e-4 amyotrophic lateral sclerosis type 11 Yunis-varon syndrome 1 1 FIG4 (6) 0.33333 1.00000 1.299e-4 3.908e-4 311 amyotrophic lateral sclerosis type 19 Soft tissue neoplasms 1 1 ERBB4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 312 Anaplastic astrocytoma Hairy cell leukemia 1 1 BRAF (2) 0.33333 1.00000 1.299e-4 3.908e-4 200 Anaplastic astrocytoma Anaplastic oligoastrocytoma 1 0 IDH2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 200 Anaplastic astrocytoma Gemistocytic astrocytoma 1 0 IDH2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 200 Anaplastic oligoastrocytoma Anaplastic oligodendroglioma 1 0 IDH2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 200 Anaplastic oligodendroglioma Gemistocytic astrocytoma 1 0 IDH2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 200 Anaplastic oligodendroglioma Congenital chromosomal disease 1 1 POT1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Anaptoglobinemia Wilson disease 1 1 ATP7B (6) 0.33333 1.00000 1.299e-4 3.908e-4 Andersen-tawil syndrome familial hyperaldosteronism type III 1 1 KCNJ5 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Androgen insensitivity syndrome Bulbo-spinal atrophy, x-linked 1 1 AR (7) 0.33333 1.00000 1.299e-4 3.908e-4 204 Androgen insensitivity syndrome Partial androgen insensitivity syndrome 1 1 AR (7) 0.33333 1.00000 1.299e-4 3.908e-4 204 Androgen insensitivity syndrome Kennedy disease 1 1 AR (8) 0.33333 1.00000 1.299e-4 3.908e-4 204 Androgen insensitivity syndrome meier-gorlin syndrome 7 1 1 CDC45 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 12 anemia, nonspherocytic hemolytic, due to G6PD deficiency Bloch sulzberger syndrome 1 1 G6PD (2) 0.33333 1.00000 1.299e-4 3.908e-4 12 Anemia, x-linked Congenital erythropoietic porphyria 1 1 GATA1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 132 Anhidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia 1 1 EDA (2) 0.33333 1.00000 1.299e-4 3.908e-4 76 Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema G6PD deficiency 1 1 G6PD (2) 0.33333 1.00000 1.299e-4 3.908e-4 12 Aniridia-cerebellar ataxia-intellectual disability syndrome Bilateral congenital mydriasis 1 1 ITPR1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Aniridia-cerebellar ataxia-intellectual disability syndrome spinocerebellar ataxia type 29 1 1 ITPR1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Aniridia-cerebellar ataxia-intellectual disability syndrome Cataract-corneal dystrophy syndrome 1 1 PAX6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Aniridia-cerebellar ataxia-intellectual disability syndrome PAX6-related ocular dysgenesis 1 1 PAX6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Anisometropia PTEN hamartoma tumor syndrome 1 1 PTEN (3) 0.33333 1.00000 1.299e-4 3.908e-4 317 Anisometropia Trichiasis 1 0 MCM7 (1) 0.33333 1.00000 1.299e-4 3.908e-4 317 Ankylosis Congenital aural atresia 1 1 FGFR2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 38 Ankylosis Crouzon syndrome 1 1 FGFR2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 38 Annular epidermolytic ichthyosis Diffuse nonepidermolytic palmoplantar keratoderma 1 1 KRT1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 187 Annular epidermolytic ichthyosis Keratosis of greither 1 1 KRT1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 187 anterior segment dysgenesis 4 Ataxia with deafness and vision loss 1 1 PITX2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 anterior segment dysgenesis 4 Axenfeld anomaly 1 1 PITX2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 82 anterior segment dysgenesis 4 Iridogoniodysgenesis 1 1 PITX2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 82 anterior segment dysgenesis 7 Congenital cataract microcornea with corneal opacity 1 1 PXDN (3) 0.33333 1.00000 1.299e-4 3.908e-4 Aortic atherosclerosis idiopathic multidrug-resistant nephrotic syndrome 1 1 DAAM2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Apoceruloplasmin deficiency Hemosiderosis 1 1 CP (2) 0.33333 1.00000 1.299e-4 3.908e-4 188 Apoceruloplasmin deficiency hemochromatosis type 4 1 1 SLC40A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 188 Apolipoprotein a-i amyloidosis Apolipoprotein a-i deficiency 1 1 APOA1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 293 Arboleda-tham syndrome Intellectual disability with craniofacial anomalies and cardiac defects 1 1 KAT6A (4) 0.33333 1.00000 1.299e-4 3.908e-4 286 Congenital mitral valve atresia Intellectual developmental disorder seizures hypotonia skeletal 1 1 FOXP1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 267 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia 1 1 RYR1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 268 congenital myasthenic syndrome 17 Sclerosteosis 1 1 LRP4 (8) 0.33333 1.00000 1.299e-4 3.908e-4 344 Congenital neck anomaly Nebulin-related myopathy 1 1 NEB (3) 0.33333 1.00000 1.299e-4 3.908e-4 333 Congenital neck anomaly Distal nebulin myopathy 1 0 NEB (1) 0.33333 1.00000 1.299e-4 3.908e-4 333 Congenital neck anomaly nemaline myopathy 2 1 1 NEB (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Congenital nervous system disorder neurodevelopmental disorder with hypotonia, epilepsy, and absent speech 1 1 UNC13A (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital pectus carinatum Congenital scoliosis 1 0 FBN1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 28 Congenital pectus carinatum Crst syndrome 1 0 FBN1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 28 Congenital pectus carinatum Dilatation of pulmonary artery 1 0 FBN1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 28 Congenital porencephaly Familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 COL4A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 33 Congenital prothrombin deficiency Hemophilia b 1 1 F2 (4) 0.33333 1.00000 1.299e-4 3.908e-4 408 Congenital pulmonary valve atresia Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 1 GATA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 106 Congenital pulmonary valve atresia Partial atrioventricular canal defect 1 1 GATA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 106 Congenital radioulnar synostosis SMAD6-related disease 1 1 SMAD6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital reticular ichthyosiform erythroderma Diffuse nonepidermolytic palmoplantar keratoderma 1 1 KRT1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 187 Congenital reticular ichthyosiform erythroderma Keratosis of greither 1 1 KRT1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 187 Congenital scoliosis Coronary artery dissection 1 0 FBN1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 28 Congenital short bowel syndrome Otopalatodigital spectrum disorder 1 1 FLNA (2) 0.33333 1.00000 1.299e-4 3.908e-4 42 Congenital short bowel syndrome Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.33333 1.00000 1.299e-4 3.908e-4 42 Congenital short bowel syndrome X-linked ehlers-danlos syndrome 1 1 FLNA (3) 0.33333 1.00000 1.299e-4 3.908e-4 42 Congenital short bowel syndrome X-linked keloid scarring syndrome 1 1 FLNA (2) 0.33333 1.00000 1.299e-4 3.908e-4 42 Congenital sodium diarrhea Duodenal atresia 1 1 GUCY2C (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 325 Congenital thrombotic thrombocytopenic purpura Upshaw-schulman syndrome 1 1 ADAMTS13 (4) 0.33333 1.00000 1.299e-4 3.908e-4 325 Congenital vertical talus Vertical talus 1 1 HOXD10 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Conjunctivitis Developmental delay with autism spectrum disorder 1 1 HERC2 (4) 0.33333 1.00000 1.299e-4 3.908e-4 246 Conjunctivitis hypoplasminogenemia 1 1 PLG (2) 0.33333 1.00000 1.299e-4 3.908e-4 246 Contiguous abcd1-dxs1375e deletion syndrome Deafness, dystonia, and cerebral hypomyelination 1 1 BCAP31 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 389 Coq7-related distal hereditary motor neuropathy Primary coenzyme q10 deficiency 1 1 COQ7 (4) 0.33333 1.00000 1.299e-4 3.908e-4 399 Coronary artery dissection Crst syndrome 1 0 FBN1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 28 Coronary artery dissection Dilatation of pulmonary artery 1 0 FBN1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 28 Corpus callosum agenesis with abnormal genitalia Lissencephaly, x-linked 1 1 ARX (5) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Cortical congenital hyperostosis Maternal hypertension 1 0 COL1A1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 93 Cortical congenital hyperostosis Rhizomelia 1 0 COL1A1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 93 Corticosterone methyl oxidase type i Glucocorticoid-remediable aldosteronism 1 0 CYP11B2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 177 Corticosterone methyloxidase deficiency Glucocorticoid-remediable aldosteronism 1 1 CYP11B2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 177 Corticosterone monooxygenase deficiency Glucocorticoid-remediable aldosteronism 1 1 CYP11B2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 177 Cowchock syndrome X-linked hereditary sensory and autonomic neuropathy with deafness 1 1 AIFM1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 367 Coxopodopatellar syndrome Patellar aplasia 1 1 TBX4 (3) 0.33333 1.00000 1.299e-4 3.908e-4 27 Craniofaciocardiohepatic syndrome Tethered cord syndrome 1 1 AMOTL1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 200 Craniofaciosynostosis Osteoglophonic dwarfism 1 1 FGFR1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 139 Craniofaciosynostosis Osteoglophonic dysplasia 1 1 FGFR1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 139 Craniofaciosynostosis Hartsfield-Bixler-Demyer syndrome 1 1 FGFR1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 139 Cranioosteoarthropathy Medullary carcinoma 1 1 HPGD (4) 0.33333 1.00000 1.299e-4 3.908e-4 Cranioosteoarthropathy Primary hypertrophic osteoarthropathy 1 1 HPGD (5) 0.33333 1.00000 1.299e-4 3.908e-4 Craniopharyngioma Hairy cell leukemia 1 1 BRAF (2) 0.33333 1.00000 1.299e-4 3.908e-4 Craniopharyngioma Intellectual developmental disorder dysmorphic ocular microcephaly peripheral 1 1 CTNNB1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 81 Craniopharyngioma CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy 1 1 CTNNB1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 81 craniosynostosis 2 Parietal foramina 1 1 MSX2 (7) 0.33333 1.00000 1.299e-4 3.908e-4 108 craniosynostosis 4 Crouzon syndrome 1 1 ERF (3) 0.33333 1.00000 1.299e-4 3.908e-4 38 craniosynostosis 4 Parieto-occipital craniosynostosis 1 1 ERF (2) 0.33333 1.00000 1.299e-4 3.908e-4 Creatine deficiency Guanidinoacetate methyltransferase deficiency 1 1 GAMT (3) 0.33333 1.00000 1.299e-4 3.908e-4 380 Creatine deficiency Creatine transporter deficiency 1 1 SLC6A8 (4) 0.33333 1.00000 1.299e-4 3.908e-4 380 Creatine deficiency X-linked creatine transporter deficiency 1 1 SLC6A8 (3) 0.33333 1.00000 1.299e-4 3.908e-4 380 Cri-du-chat syndrome dyskeratosis congenita, autosomal dominant 2 1 1 TERT (3) 0.33333 1.00000 1.299e-4 3.908e-4 1 Cronkhite-canada syndrome Pilosebaceous disorder 1 1 GLI3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 192 Crouzon syndrome Cutis gyrata syndrome 1 1 FGFR2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 38 Cryohydrocytosis Glucose transporter type 1 deficiency syndrome 1 1 SLC2A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 99 Cryohydrocytosis Epilepsy with myoclonic absence 1 1 SLC2A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 99 Cryohydrocytosis GLUT1 deficiency syndrome 1 1 SLC2A1 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 81 CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Vascular calcification 1 1 CTNNB1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 81 Anemia, x-linked Cutaneous porphyria 1 1 GATA1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 132 Cutaneous porphyria Dyserythropoietic anemia with thrombocytopenia 1 1 GATA1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 132 Cutaneous porphyria Thrombocytopenia with dyserythropoietic anemia 1 1 GATA1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 132 Cutaneous porphyria Dyserythropoietic anemia with abnormal platelets and neutropenia 1 1 GATA1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 132 Cyclic hematopoiesis Cyclic neutropenia 1 1 ELANE (6) 0.33333 1.00000 1.299e-4 3.908e-4 Cystathionine beta-synthase deficiency Periportal fibrosis 1 0 PKHD1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 74 Cystathionine beta-synthase deficiency Homocystinuria 1 1 CBS (4) 0.33333 1.00000 1.299e-4 3.908e-4 Cystinosis Ocular cystinosis 1 1 CTNS (7) 0.33333 1.00000 1.299e-4 3.908e-4 Cytochrome-b5 reductase deficiency Dihydrolipoamide dehydrogenase deficiency 1 1 CYB5R3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 429 Dacryocystitis Recurrent multifocal osteomyelitis 1 1 IL1RN (3) 0.33333 1.00000 1.299e-4 3.908e-4 219 Dacryocystitis Interleukin 1 receptor antagonist deficiency 1 0 IL1RN (1) 0.33333 1.00000 1.299e-4 3.908e-4 219 Deafness enamel hypoplasia nail defects Spinocerebellar ataxia blindness deafness syndrome 1 1 PEX6 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 105 Deafness with congenital onychodystrophy Focal epilepsy-intellectual disability-cerebro-cerebellar malformation 1 1 TBC1D24 (2) 0.33333 1.00000 1.299e-4 3.908e-4 105 Deafness with congenital onychodystrophy Deafness-onychodystrophy syndrome 1 1 ATP6V1B2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 105 Deafness-enamel hypoplasia-nail defects syndrome Spinocerebellar ataxia blindness deafness syndrome 1 0 PEX6 (1) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 141 Deafness-onychodystrophy syndrome Doors syndrome 1 1 ATP6V1B2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 105 Deafness, digenic Keratitis ichthyosis hearing loss syndrome 1 1 GJB2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 68 Deafness, digenic Peripheral neuropathy with sensorineural hearing impairment syndrome 1 1 GJB3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 68 Deafness, dystonia, and cerebral hypomyelination X-linked cerebral adrenoleukodystrophy 1 1 ABCD1 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Doors syndrome 1 1 TBC1D24 (4) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 105 Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome Periodic paralysis 1 1 TBC1D24 (2) 0.33333 1.00000 1.299e-4 3.908e-4 105 Deletion 5q35 syndrome Interrupted aortic arch 1 1 NKX2-5 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 166 Delpire-mcneill syndrome Lymphatic system disease 1 1 SLC12A2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Delta zero thalassemia Lepore-beta-thalassemia syndrome 1 0 HBD (1) 0.33333 1.00000 1.299e-4 3.908e-4 Delta-thalassemia Lepore-beta-thalassemia syndrome 1 0 HBD (1) 0.33333 1.00000 1.299e-4 3.908e-4 Den hoed-de boer-voisin syndrome Intellectual developmental disorder seizures extrapyramidal 1 1 SATB1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Denys drash syndrome Desmoplastic small round cell tumor 1 1 WT1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 86 Caffey disease Dermatofibrosarcoma protuberans 1 1 COL1A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 93 Dermatofibrosarcoma protuberans Maternal hypertension 1 1 COL1A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 93 Dermatofibrosarcoma protuberans Rhizomelia 1 1 COL1A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 93 COL1A1-related Ehlers-Danlos syndrome Dermatofibrosarcoma protuberans 1 1 COL1A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 93 Dermatopathia pigmentosa reticularis Sjogren-larsson syndrome 1 1 KRT14 (6) 0.33333 1.00000 1.299e-4 3.908e-4 270 Desmoplastic small round cell tumor Drash syndrome 1 1 WT1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 86 Desmoplastic small round cell tumor wilms tumor 1 1 1 WT1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 86 Deuteranomaly red-green color blindness 1 1 OPN1MW (3) 0.33333 1.00000 1.299e-4 3.908e-4 217 developmental and epileptic encephalopathy, 50 Hypoplastic anemia 1 1 CAD (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 220 diamond-blackfan anemia 6 Ovarian agenesis 1 1 RPL5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 240 diamond-blackfan anemia 6 Erythroid hypoplasia 1 1 RPL5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 240 Diaphyseal bone disorder Peritoneal fibrosis 1 1 TGFB1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Diaphyseal bone disorder inflammatory bowel disease, immunodeficiency, and encephalopathy 1 1 TGFB1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Diastolic heart failure Growth retardation, developmental delay, and facial dysmorphism 1 1 FTO (2) 0.33333 1.00000 1.299e-4 3.908e-4 Diastolic heart failure Growth retardation, developmental delay, coarse facies, and early death 1 1 FTO (3) 0.33333 1.00000 1.299e-4 3.908e-4 Dicer1 syndrome Granulosa cell tumor of ovary 1 1 DICER1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 216 Dicer1 syndrome Vertebral anomalies with endocrine and t-cell dysfunction 1 0 DICER1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 216 Dicer1 tumor-predisposition syndrome Granulosa cell tumor of ovary 1 0 DICER1 (1) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 216 Dicer1-related tumor predisposition Granulosa cell tumor of ovary 1 1 DICER1 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 216 Diffuse nonepidermolytic palmoplantar keratoderma Epidermolytic ichthyosis 1 1 KRT1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 187 Diffuse nonepidermolytic palmoplantar keratoderma Epidermolytic hyperkeratosis 1 1 KRT1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 187 Diffuse palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses 1 1 DSG1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Digital clubbing, isolated congenital Medullary carcinoma 1 1 HPGD (2) 0.33333 1.00000 1.299e-4 3.908e-4 Digital clubbing, isolated congenital Primary hypertrophic osteoarthropathy 1 1 HPGD (5) 0.33333 1.00000 1.299e-4 3.908e-4 Dihydrolipoamide dehydrogenase deficiency pyruvate dehydrogenase E3 deficiency 1 1 DLD (3) 0.33333 1.00000 1.299e-4 3.908e-4 429 Dihydropyrimidinase deficiency Dihydropyrimidine metabolism disorder 1 1 DPYS (5) 0.33333 1.00000 1.299e-4 3.908e-4 365 Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine metabolism disorder 1 1 DPYD (6) 0.33333 1.00000 1.299e-4 3.908e-4 365 Dilatation of pulmonary artery Right bundle branch block 1 0 BMPR2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Dilatation of pulmonary artery Right cardiac ventricular dilatation 1 0 BMPR2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 dilated cardiomyopathy 1E Ectopic rhythm 1 1 SCN5A (2) 0.33333 1.00000 1.299e-4 3.908e-4 140 dilated cardiomyopathy 1E Paroxysmal ventricular fibrillation 1 1 SCN5A (2) 0.33333 1.00000 1.299e-4 3.908e-4 140 dilated cardiomyopathy 1EE Keppen-lubinsky syndrome 1 1 MYH6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 328 dilated cardiomyopathy 1S Ebstein anomaly 1 1 MYH7 (3) 0.33333 1.00000 1.299e-4 3.908e-4 104 dilated cardiomyopathy 1S Parieto-occipital craniosynostosis 1 1 MYH7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 104 Distal amyotrophy Distal myotilinopathy 1 1 MYOT (2) 0.33333 1.00000 1.299e-4 3.908e-4 Dkc1-related disorder X-linked dyskeratosis congenita 1 1 DKC1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 393 Dna ligase iv deficiency Dubowitz syndrome 1 1 LIG4 (4) 0.33333 1.00000 1.299e-4 3.908e-4 360 Dna ligase iv deficiency Lig4 syndrome 1 1 LIG4 (6) 0.33333 1.00000 1.299e-4 3.908e-4 360 Dna repair-deficiency disorders microcephaly, seizures, and developmental delay 1 1 PNKP (3) 0.33333 1.00000 1.299e-4 3.908e-4 Dominant dystrophic epidermolysis bullosa with absence of skin Dystrophic epidermolysis bullosa 1 1 COL7A1 (8) 0.33333 1.00000 1.299e-4 3.908e-4 252 Dominant dystrophic epidermolysis bullosa with absence of skin Nail dystrophy 1 1 COL7A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 252 Dominant dystrophic epidermolysis bullosa with absence of skin Hallopeau siemens disease 1 1 COL7A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 252 Dominant dystrophic epidermolysis bullosa, albopapular type Dystrophic epidermolysis bullosa 1 1 COL7A1 (8) 0.33333 1.00000 1.299e-4 3.908e-4 252 Dominant dystrophic epidermolysis bullosa, albopapular type Nail dystrophy 1 1 COL7A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 252 Dominant dystrophic epidermolysis bullosa, albopapular type Hallopeau siemens disease 1 0 COL7A1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 252 Donnai-barrow syndrome methylmalonic aciduria and homocystinuria type cblF 1 1 LMBRD1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Doors syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation 1 1 TBC1D24 (4) 0.33333 1.00000 1.299e-4 3.908e-4 105 Dorfman-chanarin disease Neutral lipid storage disease with ichthyosis 1 1 ABHD5 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Duplication of pituitary gland Tessier facial cleft 1 0 PTCH2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 25 Duplication of pituitary gland nevoid basal cell carcinoma syndrome 1 1 PTCH2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 25 Dyggve-melchior-clausen syndrome Smith-mccort dysplasia 1 1 DYM (6) 0.33333 1.00000 1.299e-4 3.908e-4 Dysautonomia Riley-day syndrome 1 1 ELP1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Dyschromatopsia EYS-related retinopathy 1 1 EYS (2) 0.33333 1.00000 1.299e-4 3.908e-4 dyskeratosis congenita, autosomal dominant 2 Tongue cancer 1 1 TERT (2) 0.33333 1.00000 1.299e-4 3.908e-4 1 dyskeratosis congenita, x-linked X-linked dyskeratosis congenita 1 1 DKC1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 393 Dysphonia Intermittent explosive disorder 1 0 COMT (1) 0.33333 1.00000 1.299e-4 3.908e-4 181 Dysphonia perrault syndrome 5 1 1 TWNK (2) 0.33333 1.00000 1.299e-4 3.908e-4 181 Dyssegmental dysplasia Silverman-Handmaker type dyssegmental dysplasia 1 1 HSPG2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 146 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 3.908e-4 432 East syndrome Seizures, tonic-clonic, photosensitive 1 1 KCNJ10 (5) 0.33333 1.00000 1.299e-4 3.908e-4 East texas bleeding disorder Factor v deficiency 1 1 F5 (5) 0.33333 1.00000 1.299e-4 3.908e-4 84 Ebstein anomaly Myosin storage myopathy 1 1 MYH7 (3) 0.33333 1.00000 1.299e-4 3.908e-4 104 Ebstein anomaly MYH7-related skeletal myopathy 1 1 MYH7 (3) 0.33333 1.00000 1.299e-4 3.908e-4 104 ectodermal dysplasia and immunodeficiency 2 Interleukin 1 receptor antagonist deficiency 1 1 NFKBIA (2) 0.33333 1.00000 1.299e-4 3.908e-4 219 Ectopic rhythm SCN5A-related cardiac rhythm disorder 1 1 SCN5A (2) 0.33333 1.00000 1.299e-4 3.908e-4 140 ehlers-danlos syndrome, classic type Rupture, spontaneous 1 1 COL5A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Elsahy-waters syndrome Erythrokeratodermia with ataxia 1 1 ELOVL4 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Embryonal carcinoma Gingivitis 1 1 TNFRSF8 (2) 0.33333 1.00000 1.299e-4 3.908e-4 334 Encephaloclastic proliferative vasculopathy Posterior column ataxia with retinitis pigmentosa 1 1 FLVCR2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Encephalocraniocutaneous lipomatosis Osteoglophonic dwarfism 1 1 FGFR1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 139 Encephalocraniocutaneous lipomatosis Osteoglophonic dysplasia 1 1 FGFR1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 139 Encephalocraniocutaneous lipomatosis Hartsfield-Bixler-Demyer syndrome 1 1 FGFR1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 139 Enteropathy Primary hypertrophic osteoarthropathy 1 1 SLCO2A1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Arhinia-choanal atresia-microphthalmia syndrome Chediak-higashi syndrome 1 1 SMCHD1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 324 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Lethal acantholytic epidermolysis bullosa 1 1 DSP (3) 0.33333 1.00000 1.299e-4 3.908e-4 206 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Ventricular arrhythmia 1 1 DSP (2) 0.33333 1.00000 1.299e-4 3.908e-4 206 Arthralgia Hyper-igd syndrome 1 1 MVK (2) 0.33333 1.00000 1.299e-4 3.908e-4 327 Arthralgia Bone marrow neoplasms 1 0 CSF3 (1) 0.33333 1.00000 1.299e-4 3.908e-4 327 Arts syndrome Ataxia with deafness and vision loss 1 1 PRPS1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 253 asphyxiating thoracic dystrophy 3 Bowed long bones 1 1 DYNC2H1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 56 Asplenia Congenital asplenia 1 1 RPSA (5) 0.33333 1.00000 1.299e-4 3.908e-4 166 Asplenia Splenic hypoplasia 1 1 RPSA (3) 0.33333 1.00000 1.299e-4 3.908e-4 166 Asymmetric crying face association Branchiooculofacial syndrome 1 0 EYA1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 134 Asymmetric crying face association Branchiootic syndrome 1 1 EYA1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 134 Asymmetric crying face association Otofaciocervical syndrome 1 1 EYA1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 134 Ataxia with deafness and vision loss Ring dermoid of cornea 1 1 PITX2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Ataxia with deafness and vision loss Prpp synthetase superactivity 1 1 PRPS1 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 253 Ataxia with intention tremor and hypotonia Cervical dysplasia 1 1 POU4F1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 60 Ataxia with intention tremor and hypotonia Uterine disease 1 1 POU4F1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 60 Ataxia with polyneuropathy Periodic paralysis 1 0 ATP6 (1) 0.33333 1.00000 1.299e-4 3.908e-4 105 Ataxia-pancytopenia syndrome Spectrum and myeloid neoplasm risk 1 1 SAMD9L (6) 0.33333 1.00000 1.299e-4 3.908e-4 Ataxia, spastic, autosomal recessive Spastic ataxia with leukoencephalopathy 1 1 MARS2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Ateleiotic dwarfism Congenital isolated growth hormone deficiency 1 1 GH1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Atelosteogenesis De la chapelle dysplasia 1 1 SLC26A2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 190 Atelosteogenesis Diastrophic dysplasia 1 1 SLC26A2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 190 Atelosteogenesis Diastrophic dysplasia, broad bone-platyspondylic variant 1 1 SLC26A2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 190 Atelosteogenesis Ear disease 1 1 SLC26A2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 190 Atelosteogenesis SLC26A2-related skeletal dysplasia 1 1 SLC26A2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 190 Atr-x syndrome Intellectual developmental disorder hypotonic x-linked 1 1 ATRX (7) 0.33333 1.00000 1.299e-4 3.908e-4 117 Atrioventricular excitation abnormality PRKAG2-related cardiomyopathy 1 1 PRKAG2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 328 Atrioventricular excitation abnormality MYH-6 related congenital heart defects 1 1 MYH6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 328 Atrioventricular excitation abnormality dilated cardiomyopathy 1EE 1 1 MYH6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 328 Atrophic retina Diastolic heart failure 1 1 ABCA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 150 Atrophic retina Retinopathy background 1 0 ABCA4 (1) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Atypical multiple mole melanoma syndrome Vulvar lichen sclerosus 1 1 CDKN2A (4) 0.33333 1.00000 1.299e-4 3.908e-4 45 Atypical teratoid rhabdoid tumor Rhabdoid tumor 1 1 SMARCB1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 299 Atypical teratoid rhabdoid tumor Rhabdoid tumor predisposition syndrome 1 1 SMARCB1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 Auditory neuropathy with optic atrophy FDXR-related optic atrophy mitochondrial dysfunction syndrome 1 1 FDXR (6) 0.33333 1.00000 1.299e-4 3.908e-4 Auditory perceptual disorder Craniofacial anomalies with anterior segment dysgenesis 1 1 VSX1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 87 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 3.908e-4 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Haploinsufficiency 1 1 CTLA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Autoimmune pancreatitis autosomal recessive osteopetrosis 3 1 1 CA2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 1 Autoimmune pulmonary alveolar proteinosis Thromboangiitis obliterans 1 1 HLA-DRB1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 254 Autoinflammation with infantile enterocolitis Cria syndrome 1 1 RIPK1 (4) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 264 Autoinflammation with infantile enterocolitis immunodeficiency 57 1 1 RIPK1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 264 Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome Pelger-huet anomaly 1 1 CEBPE (3) 0.33333 1.00000 1.299e-4 3.908e-4 Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome Specific granule deficiency 1 1 CEBPE (6) 0.33333 1.00000 1.299e-4 3.908e-4 Autoinflammation, panniculitis, and dermatosis syndrome Craniometadiaphyseal dysplasia 1 1 OTULIN (6) 0.33333 1.00000 1.299e-4 3.908e-4 208 Autoinflammatory disease, familial, behcet-like 3 Mucocutaneous ulceration 1 1 RELA (4) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 80 Autoinflammatory disease, systemic, x-linked G6PD deficiency 1 1 G6PD (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis immunodeficiency 115 with autoinflammation 1 1 RNF31 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 X-linked agammaglobulinemia with growth hormone deficiency 1 1 ELF4 (4) 0.33333 1.00000 1.299e-4 3.908e-4 autosomal dominant centronuclear myopathy X-linked centronuclear myopathy 1 1 DNM2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 61 autosomal recessive spinocerebellar ataxia 10 Neutral lipid storage disease with ichthyosis 1 1 ANO10 (2) 0.33333 1.00000 1.299e-4 3.908e-4 autosomal recessive spinocerebellar ataxia 20 Intellectual developmental disorder dysmorphic cerebellar 1 1 SNX14 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Avellino corneal dystrophy Thiel-behnke corneal dystrophy 1 1 TGFBI (4) 0.33333 1.00000 1.299e-4 3.908e-4 Avoidant restrictive food intake disorder Cavitary optic disk anomaly 1 1 APOE (2) 0.33333 1.00000 1.299e-4 3.908e-4 125 Axenfeld anomaly FOXC1-related anterior segment dysgenesis 1 1 FOXC1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 82 Axenfeld anomaly Ring dermoid of cornea 1 1 PITX2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 82 Axonal hereditary motor and sensory neuropathy Nail dystrophy 1 1 MFN2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 BAP1-related tumor predisposition syndrome Central nervous system neoplasms 1 1 BAP1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Baraitser-winter cerebrofrontofacial syndrome Becker nevus syndrome 1 1 ACTB (6) 0.33333 1.00000 1.299e-4 3.908e-4 115 Baraitser-winter cerebrofrontofacial syndrome Congenital smooth muscle hamartoma 1 1 ACTB (6) 0.33333 1.00000 1.299e-4 3.908e-4 115 Baraitser-winter cerebrofrontofacial syndrome Developmental malformations-deafness-dystonia syndrome 1 1 ACTB (7) 0.33333 1.00000 1.299e-4 3.908e-4 115 Baraitser-winter cerebrofrontofacial syndrome Dystonia-deafness syndrome 1 1 ACTB (6) 0.33333 1.00000 1.299e-4 3.908e-4 115 Baralle-macken syndrome Intellectual developmental disorder dysmorphic microcephaly 1 1 COPB1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Barber-say syndrome Focal facial dermal dysplasia 1 1 TWIST2 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Bart-pumphrey syndrome Deafness, digenic 1 1 GJB2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 68 Bart-pumphrey syndrome Senter syndrome 1 1 GJB2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 68 Bart-pumphrey syndrome Vohwinkel syndrome 1 1 GJB2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 68 Bartsocas-papas syndrome Cocoon syndrome 1 1 CHUK (6) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 409 Bartsocas-papas syndrome Curly hair ankyloblepharon nail dysplasia syndrome 1 1 RIPK4 (5) 0.33333 1.00000 1.299e-4 3.908e-4 409 Beare-stevenson cutis gyrata syndrome Congenital aural atresia 1 1 FGFR2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 38 Beare-stevenson cutis gyrata syndrome Crouzon syndrome 1 1 FGFR2 (7) 0.33333 1.00000 1.299e-4 3.908e-4 38 Becker generalized myotonia Congenital myotonia 1 1 CLCN1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Becker generalized myotonia Myotonia congenita 1 1 CLCN1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Benign epithelial tumor of salivary glands silver-russell syndrome 5 1 1 HMGA2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 361 Benign hypercalcemia neonatal severe primary hyperparathyroidism 1 1 CASR (2) 0.33333 1.00000 1.299e-4 3.908e-4 210 Benign neonatal-infantile seizures neonatal-onset developmental and epileptic encephalopathy 1 1 KCNQ2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 213 Benign neonatal-infantile seizures neonatal encephalopathy with non-epileptic myoclonus 1 1 KCNQ2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 213 Benign samaritan congenital myopathy Malignant hyperthermia 1 1 RYR1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 268 Beta-hexosaminidase a deficiency Gm2 gangliosidosis 1 0 HEXA (1) 0.33333 1.00000 1.299e-4 3.908e-4 Bifid nail Otopalatodigital syndrome 1 1 OFD1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Bifid nose Culler-jones syndrome 1 1 GLI2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 169 Bifid nose Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome 1 1 GLI2 (4) 0.33333 1.00000 1.299e-4 3.908e-4 169 Bifid nose Bnar syndrome 1 1 FREM1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Bifid uvula GRHL3-related orofacial clefting 1 1 GRHL3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Bifunctional enzyme deficiency D-bifunctional protein deficiency 1 1 HSD17B4 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Bilateral congenital mydriasis Gillespie syndrome 1 1 ITPR1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Bilateral congenital vertical talus Congenital vertical talus 1 1 HOXD10 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Pyruvate kinase deficiency pyruvate kinase deficiency of red cells 1 1 PKLR (2) 0.33333 1.00000 1.299e-4 3.908e-4 recombinase activating gene 2 deficiency Salla disease 1 1 RAG2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 176 Recurrent multifocal osteomyelitis Sclerosis 1 1 IL1RN (2) 0.33333 1.00000 1.299e-4 3.908e-4 219 red color blindness X-linked cone dysfunction syndrome with myopia 1 1 OPN1LW (2) 0.33333 1.00000 1.299e-4 3.908e-4 217 red-green color blindness X-linked cone dysfunction syndrome with myopia 1 1 OPN1MW (2) 0.33333 1.00000 1.299e-4 3.908e-4 217 Reducing body myopathy Scapuloperoneal myopathy 1 1 FHL1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Reducing body myopathy X-linked emery-dreifuss muscular dystrophy 1 1 FHL1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 433 Reducing body myopathy X-linked myopathy 1 1 FHL1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 433 renal tubular dysgenesis - ACE Rheumatic disease of mitral valve 1 1 ACE (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 renal tubular dysgenesis - ACE Rheumatic mitral regurgitation 1 1 ACE (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 renal tubular dysgenesis of genetic origin Tonne-kalscheuer syndrome 1 1 REN (2) 0.33333 1.00000 1.299e-4 3.908e-4 70 Emery dreifuss muscular dystrophy Restrictive dermopathy 1 1 LMNA (6) 0.33333 1.00000 1.299e-4 3.908e-4 83 Restrictive dermopathy Severe lipodystrophic laminopathy 1 1 LMNA (6) 0.33333 1.00000 1.299e-4 3.908e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Restrictive dermopathy 1 1 LMNA (5) 0.33333 1.00000 1.299e-4 3.908e-4 83 Cerebral small vessel disease Retinal arterial tortuosity 1 1 COL4A1 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 385 Retinopathy background Worth syndrome 1 1 LRP5 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Retractile testis Ventricular tachycardia 1 1 GNAI2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Rhabdoid tumor predisposition syndrome Small cell ovary carcinoma 1 1 SMARCA4 (6) 0.33333 1.00000 1.299e-4 3.908e-4 261 Rhyns syndrome Senior-boichis syndrome 1 1 TMEM67 (5) 0.33333 1.00000 1.299e-4 3.908e-4 315 Cone-rod dystrophy, x-linked RPGR-related retinopathy 1 1 RPGR (4) 0.33333 1.00000 1.299e-4 3.908e-4 385 RPGR-related retinopathy X-linked cone-rod dystrophy 1 1 RPGR (2) 0.33333 1.00000 1.299e-4 3.908e-4 385 Myosin storage myopathy Scapuloperoneal myopathy 1 1 MYH7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 104 Biventricular noncompaction cardiomyopathy Scapuloperoneal myopathy 1 0 MYH7 (1) 0.33333 1.00000 1.299e-4 3.908e-4 104 MYH7-related skeletal myopathy Scapuloperoneal myopathy 1 1 MYH7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 104 dilated cardiomyopathy 1S Scapuloperoneal myopathy 1 1 MYH7 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 216 SIN3A-related intellectual disability syndrome Witteveen-kolk syndrome 1 1 SIN3A (4) 0.33333 1.00000 1.299e-4 3.908e-4 362 Skeletal system disorder Triphalangeal thumb-polysyndactyly syndrome 1 1 SHH (2) 0.33333 1.00000 1.299e-4 3.908e-4 230 Small cell ovary carcinoma Thoracic neoplasms 1 1 SMARCA4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 261 Glucocorticoid-remediable aldosteronism Steroid 11-beta-monooxygenase deficiency 1 1 CYP11B1 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Epidermolysis bullosa simplex Sjogren-larsson syndrome 1 1 KRT14 (2) 0.33333 1.00000 1.299e-4 3.908e-4 270 Epidermolytic hyperkeratosis Keratosis of greither 1 1 KRT1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 187 Epidermolytic ichthyosis Keratosis of greither 1 1 KRT1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 187 Erythrocyte amp deaminase deficiency Myoadenylate deaminase deficiency 1 1 AMPD3 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Erythrocytosis due to tissue hypoxemia Pancreatic cyst 1 0 VHL (1) 0.33333 1.00000 1.299e-4 3.908e-4 403 Erythrokeratodermia-cardiomyopathy syndrome Lethal acantholytic epidermolysis bullosa 1 1 DSP (3) 0.33333 1.00000 1.299e-4 3.908e-4 206 Erythrokeratodermia-cardiomyopathy syndrome Ventricular arrhythmia 1 0 DSP (1) 0.33333 1.00000 1.299e-4 3.908e-4 206 Esophageal and gastric varices Sweat gland disease 1 1 SST (2) 0.33333 1.00000 1.299e-4 3.908e-4 340 Factor h deficiency Panuveitis 1 1 CFH (2) 0.33333 1.00000 1.299e-4 3.908e-4 32 Factor v deficiency thrombophilia due to activated protein c resistance 1 1 F5 (5) 0.33333 1.00000 1.299e-4 3.908e-4 84 Factor viii deficiency Hemophilia a carriers 1 1 F8 (3) 0.33333 1.00000 1.299e-4 3.908e-4 FADD-related immunodeficiency Oculoauricular syndrome 1 1 FADD (3) 0.33333 1.00000 1.299e-4 3.908e-4 familial acute necrotizing encephalopathy Paramyotonia congenita 1 1 RANBP2 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 33 Familial hypoaldosteronism Glucocorticoid-remediable aldosteronism 1 1 CYP11B2 (4) 0.33333 1.00000 1.299e-4 3.908e-4 177 Childhood-onset glut1 deficiency syndrome 2 Familial infantile convulsions with paroxysmal choreoathetosis 1 1 PRRT2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 85 Familial ventricular tachycardia Retractile testis 1 1 GNAI2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 FAT4-related neurodevelopmental disorder Van maldergem syndrome 1 1 FAT4 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Feingold syndrome Progressive contractures limb-girdle weakness muscle dystrophy syndrome 1 1 TTN (3) 0.33333 1.00000 1.299e-4 3.908e-4 221 Early-onset myopathy with fatal cardiomyopathy Feingold syndrome 1 1 TTN (4) 0.33333 1.00000 1.299e-4 3.908e-4 221 Feingold syndrome myopathy, myofibrillar, 9, with early respiratory failure 1 1 TTN (2) 0.33333 1.00000 1.299e-4 3.908e-4 221 Feingold syndrome tibial muscular dystrophy 1 1 TTN (2) 0.33333 1.00000 1.299e-4 3.908e-4 221 dilated cardiomyopathy 1G Feingold syndrome 1 1 TTN (2) 0.33333 1.00000 1.299e-4 3.908e-4 221 Atelosteogenesis FLNB-associated autosomal dominant filamin related bone disorder 1 1 FLNB (7) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Infantile myoclonic epilepsy 1 1 TBC1D24 (2) 0.33333 1.00000 1.299e-4 3.908e-4 105 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Periodic paralysis 1 1 TBC1D24 (2) 0.33333 1.00000 1.299e-4 3.908e-4 105 focal segmental glomerulosclerosis 7 Renal hypoplasia 1 1 PAX2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Fowler syndrome Posterior column ataxia with retinitis pigmentosa 1 1 FLVCR2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 FOXC1-related anterior segment dysgenesis Iridogoniodysgenesis 1 1 FOXC1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 82 fragile x syndrome Xq27.3 q28 duplication syndrome 1 1 FMR1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 free sialic acid storage disease Salla disease 1 1 SLC17A5 (7) 0.33333 1.00000 1.299e-4 3.908e-4 176 Congenital idiopathic intestinal pseudoobstruction Frontometaphyseal dysplasia 1 1 FLNA (5) 0.33333 1.00000 1.299e-4 3.908e-4 42 Frontometaphyseal dysplasia Otopalatodigital spectrum disorder 1 1 FLNA (5) 0.33333 1.00000 1.299e-4 3.908e-4 42 Frontometaphyseal dysplasia Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.33333 1.00000 1.299e-4 3.908e-4 42 Frontometaphyseal dysplasia X-linked ehlers-danlos syndrome 1 1 FLNA (6) 0.33333 1.00000 1.299e-4 3.908e-4 42 Frontometaphyseal dysplasia X-linked keloid scarring syndrome 1 1 FLNA (5) 0.33333 1.00000 1.299e-4 3.908e-4 42 Frontonasal dysplasia with alopecia and genital anomaly Parietal foramina 1 1 ALX4 (8) 0.33333 1.00000 1.299e-4 3.908e-4 108 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Welander distal myopathy 1 1 SQSTM1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Fructokinase deficiency Fructosuria 1 1 KHK (4) 0.33333 1.00000 1.299e-4 3.908e-4 Feingold syndrome Gallbladder agenesis 1 1 MYCN (6) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital erythropoietic porphyria GATA1-Related X-Linked Cytopenia 1 1 GATA1 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-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 3.908e-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 3.908e-4 430 Genetic hemolytic uremic syndrome Panuveitis 1 0 CFH (1) 0.33333 1.00000 1.299e-4 3.908e-4 32 Genetic hyperferritinemia without iron overload Hyperferritinemia 1 1 FTL (5) 0.33333 1.00000 1.299e-4 3.908e-4 Genetic panhypopituitarism X-linked congenital generalized hypertrichosis 1 1 SOX3 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Genetic recurrent myoglobinuria myoglobinuria, acute recurrent, autosomal recessive 1 1 LPIN1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Genitourinary disease Hengel maroofian schols syndrome 1 1 BCAS3 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Gillespie syndrome spinocerebellar ataxia type 29 1 1 ITPR1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Gillespie syndrome PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Glucocorticoid-remediable aldosteronism Hyperreninemic hypoaldosteronism 1 1 CYP11B2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 177 Childhood-onset glut1 deficiency syndrome 2 GLUT1 deficiency syndrome 1 1 SLC2A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 glutaric acidemia type 3 Post-operative myocardial infarction 1 1 SUGCT (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Gm1 gangliosidosis mucopolysaccharidosis type 4B 1 1 GLB1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 GPR143-related foveal hypoplasia X-linked ocular abinism 1 1 GPR143 (3) 0.33333 1.00000 1.299e-4 3.908e-4 432 Granulosa cell tumor of ovary Sertoli-leydig cell tumor of ovary 1 0 DICER1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 216 greenberg dysplasia Pelger-huet anomaly 1 1 LBR (6) 0.33333 1.00000 1.299e-4 3.908e-4 281 TEK-related primary glaucoma Venous malformation 1 1 TEK (4) 0.33333 1.00000 1.299e-4 3.908e-4 257 Testis atrophy Ziegler-huang syndrome 1 1 SLC30A7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Restrictive dermopathy Tight skin contracture syndrome 1 1 ZMPSTE24 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Anemia, x-linked Transient myeloproliferative disorder 1 1 GATA1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 132 Dyserythropoietic anemia with thrombocytopenia Transient myeloproliferative disorder 1 1 GATA1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 132 Thrombocytopenia with dyserythropoietic anemia Transient myeloproliferative disorder 1 1 GATA1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 132 Dyserythropoietic anemia with abnormal platelets and neutropenia Transient myeloproliferative disorder 1 1 GATA1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 132 Tremor-ataxia-central hypomyelination syndrome Wiedemann-rautenstrauch syndrome 1 1 POLR3A (3) 0.33333 1.00000 1.299e-4 3.908e-4 59 Trisomy Vulvar lichen sclerosus 1 1 CDKN2A (2) 0.33333 1.00000 1.299e-4 3.908e-4 45 Tyrosine hydroxylase deficiency Tyrosine hydroxylase–deficient dopa-responsive dystonia 1 1 TH (3) 0.33333 1.00000 1.299e-4 3.908e-4 Scapuloperoneal myopathy Uruguay faciocardio-musculoskeletal syndrome 1 1 FHL1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Uruguay faciocardio-musculoskeletal syndrome X-linked emery-dreifuss muscular dystrophy 1 1 FHL1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 433 Uruguay faciocardio-musculoskeletal syndrome X-linked myopathy 1 1 FHL1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 433 Microvascular angina Uterine disease 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 homocystinuria due to methylene tetrahydrofolate reductase deficiency Uterine disease 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Van buchem disease Worth syndrome 1 1 LRP5 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 123 LRP5-related exudative vitreoretinopathy Van buchem disease 1 1 LRP5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 123 Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Vascular leukoencephalopathy 1 1 COL4A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 33 Clapo syndrome Venous malformation 1 1 PIK3CA (3) 0.33333 1.00000 1.299e-4 3.908e-4 Cloves syndrome Venous malformation 1 1 PIK3CA (3) 0.33333 1.00000 1.299e-4 3.908e-4 Amyloid polyneuropathy Wild-type transthyretin-related amyloidosis 1 0 TTR (1) 0.33333 1.00000 1.299e-4 3.908e-4 185 Wiskott-aldrich syndrome X-linked severe congenital neutropenia 1 1 WAS (7) 0.33333 1.00000 1.299e-4 3.908e-4 Wiskott-aldrich syndrome X-linked thrombocytopenia 1 1 WAS (7) 0.33333 1.00000 1.299e-4 3.908e-4 X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency 1 1 BTK (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 X-linked agammaglobulinemia with growth hormone deficiency X-linked hypogammaglobulinemia 1 1 BTK (2) 0.33333 1.00000 1.299e-4 3.908e-4 406 X-linked chondrodysplasia punctata X-linked dominant chondrodysplasia punctata 1 1 EBP (2) 0.33333 1.00000 1.299e-4 3.908e-4 X-linked emery-dreifuss muscular dystrophy X-linked scapuloperoneal muscular dystrophy 1 1 FHL1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 433 X-linked myopathy X-linked scapuloperoneal muscular dystrophy 1 1 FHL1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 433 X-linked non progressive cerebellar ataxia X-linked progressive cerebellar ataxia 1 1 ATP2B3 (5) 0.33333 1.00000 1.299e-4 3.908e-4 422 Scapuloperoneal myopathy X-linked scapuloperoneal muscular dystrophy 1 1 FHL1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 xeroderma pigmentosum group F Xfe progeroid syndrome 1 1 ERCC4 (6) 0.33333 1.00000 1.299e-4 3.908e-4 greig cephalopolysyndactyly syndrome Pilosebaceous disorder 1 1 GLI3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 192 Groenouw corneal dystrophy Thiel-behnke corneal dystrophy 1 1 TGFBI (5) 0.33333 1.00000 1.299e-4 3.908e-4 Hairy cell leukemia Tethered cord syndrome 1 1 BRAF (2) 0.33333 1.00000 1.299e-4 3.908e-4 200 Hallermanns syndrome Palmoplantar keratoderma with congenital alopecia 1 1 GJA1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 107 HBA1-related alpha thalassemia spectrum methemoglobinemia, alpha type 1 0 HBA1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 24 erythrocytosis, familial, 7 HBA1-related alpha thalassemia spectrum 1 0 HBA1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 24 HBA2-related alpha thalassemia spectrum methemoglobinemia, alpha type 1 0 HBA2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 24 erythrocytosis, familial, 7 HBA2-related alpha thalassemia spectrum 1 0 HBA2 (1) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 91 Heerfordt syndrome Thromboangiitis obliterans 1 0 HLA-DRB1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 254 Hemimelia of limb Proximal symphalangism 1 1 NOG (2) 0.33333 1.00000 1.299e-4 3.908e-4 Hemimelia of limb NOG-related symphalangism spectrum disorder 1 1 NOG (2) 0.33333 1.00000 1.299e-4 3.908e-4 Hemimelia of limb Zygodactyly 1 1 HOXD13 (2) 0.33333 1.00000 1.299e-4 3.908e-4 111 hemochromatosis type 1 Polymyalgia rheumatica 1 1 HFE (2) 0.33333 1.00000 1.299e-4 3.908e-4 251 hemochromatosis type 1 Porphyruria 1 1 HFE (2) 0.33333 1.00000 1.299e-4 3.908e-4 251 hemochromatosis type 5 Vitreoretinochoroidopathy 1 1 FTH1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 415 Hemoglobin lepore beta thalassemia Lepore-beta-thalassemia syndrome 1 1 HBD (2) 0.33333 1.00000 1.299e-4 3.908e-4 Hemophilia b thrombophilia due to thrombin defect 1 1 F2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 408 Hemophilia b Hemophilia b carriers 1 1 F9 (7) 0.33333 1.00000 1.299e-4 3.908e-4 Hemophilia b thrombophilia, X-linked, due to factor 9 defect 1 1 F9 (7) 0.33333 1.00000 1.299e-4 3.908e-4 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Retinal arterial tortuosity 1 1 COL4A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 33 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps Simpson syndrome 1 1 KAT6B (2) 0.33333 1.00000 1.299e-4 3.908e-4 Hereditary folate malabsorption Malabsorption syndrome 1 1 SLC46A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 428 hereditary hyperferritinemia with congenital cataracts Hyperferritinemia 1 1 FTL (4) 0.33333 1.00000 1.299e-4 3.908e-4 hereditary spastic paraplegia 8 Stress urinary incontinence 1 1 WASHC5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 hereditary thrombocytopenia and hematologic cancer predisposition syndrome Transient myeloproliferative disorder 1 1 RUNX1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 132 hermansky-pudlak syndrome 10 X-linked ocular abinism 1 1 AP3D1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 432 holoprosencephaly 3 Triphalangeal thumb-polysyndactyly syndrome 1 1 SHH (3) 0.33333 1.00000 1.299e-4 3.908e-4 230 homocystinuria due to methylene tetrahydrofolate reductase deficiency Mitral valve disease 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 60 homocystinuria due to methylene tetrahydrofolate reductase deficiency Rheumatic mitral regurgitation 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Hyper-igd syndrome Mevalonate kinase deficiency 1 1 MVK (3) 0.33333 1.00000 1.299e-4 3.908e-4 327 hypercholesterolemia, autosomal dominant, type B Isolated systolic hypertension 1 1 APOB (2) 0.33333 1.00000 1.299e-4 3.908e-4 201 Hyperferritinemia neuroferritinopathy 1 1 FTL (4) 0.33333 1.00000 1.299e-4 3.908e-4 Hyperkalemia Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Hyperkalemia Ventricular outflow obstruction 1 1 INS (2) 0.33333 1.00000 1.299e-4 3.908e-4 224 Cooleys anemia Lepore-beta-thalassemia syndrome 1 0 HBB (1) 0.33333 1.00000 1.299e-4 3.908e-4 18 Dominant beta-thalassemia Lepore-beta-thalassemia syndrome 1 1 HBB (4) 0.33333 1.00000 1.299e-4 3.908e-4 18 Hemoglobin c disease Lepore-beta-thalassemia syndrome 1 1 HBB (3) 0.33333 1.00000 1.299e-4 3.908e-4 18 Hemoglobin c beta thalassemia Lepore-beta-thalassemia syndrome 1 1 HBB (2) 0.33333 1.00000 1.299e-4 3.908e-4 18 Lethal acantholytic epidermolysis bullosa Naxos disease 1 1 JUP (6) 0.33333 1.00000 1.299e-4 3.908e-4 206 Lipomatosis PTEN hamartoma tumor syndrome 1 1 PTEN (3) 0.33333 1.00000 1.299e-4 3.908e-4 317 Lipomatosis maturity-onset diabetes of the young type 8 1 1 CEL (2) 0.33333 1.00000 1.299e-4 3.908e-4 317 lissencephaly with cerebellar hypoplasia Sacroiliac arthritis 1 1 RELN (2) 0.33333 1.00000 1.299e-4 3.908e-4 209 lissencephaly with cerebellar hypoplasia Sacroiliac joint synovitis 1 1 RELN (2) 0.33333 1.00000 1.299e-4 3.908e-4 209 Lissencephaly, x-linked X-linked lissencephaly 1 1 ARX (6) 0.33333 1.00000 1.299e-4 3.908e-4 255 Lissencephaly, x-linked X-linked spasticity-intellectual disability-epilepsy syndrome 1 1 ARX (5) 0.33333 1.00000 1.299e-4 3.908e-4 255 Liver cyst Polycystic kidney disease with tuberous sclerosis 1 1 PKD1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 48 Liver cyst Renovascular hypertension 1 0 PKD1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 48 Liver cyst Pancreatic cyst 1 0 PKD1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 Liver cyst Polycystic kidneys, severe infantile with tuberous sclerosis 1 0 PKD1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 48 LRP5-related exudative vitreoretinopathy Osteopetrosis and infantile neuroaxonal dystrophy 1 1 LRP5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 123 LRP5-related exudative vitreoretinopathy Retinopathy background 1 1 LRP5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Malignant hyperthermia RYR1-related myopathy 1 1 RYR1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 268 Malonic aciduria Malonyl-coa decarboxylase deficiency 1 1 MLYCD (7) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 356 Medullary carcinoma Medullary thyroid cancer 1 0 RET (1) 0.33333 1.00000 1.299e-4 3.908e-4 161 Medullary carcinoma multiple endocrine neoplasia type 2B 1 1 RET (2) 0.33333 1.00000 1.299e-4 3.908e-4 161 Medullary carcinoma multiple endocrine neoplasia type 2A 1 1 RET (2) 0.33333 1.00000 1.299e-4 3.908e-4 161 Feingold syndrome megalencephaly-polydactyly syndrome 1 1 MYCN (6) 0.33333 1.00000 1.299e-4 3.908e-4 melanoma-pancreatic cancer syndrome Vulvar lichen sclerosus 1 1 CDKN2A (3) 0.33333 1.00000 1.299e-4 3.908e-4 45 mend syndrome X-linked chondrodysplasia punctata 1 1 EBP (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Microvascular angina Mitral valve disease 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Microvascular angina Rheumatic disease of mitral valve 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Microvascular angina Rheumatic mitral regurgitation 1 1 MTHFR (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Middle ear cholesteatoma Vaginal neoplasms 1 1 IL2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Middle lobe syndrome Townes-brocks syndrome 1 1 SALL1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 mitchell syndrome Peroxisomal acyl-coa oxidase deficiency 1 1 ACOX1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Mitral valve disease renal tubular dysgenesis - ACE 1 1 ACE (2) 0.33333 1.00000 1.299e-4 3.908e-4 60 Mucocutaneous venous malformations Venous malformation 1 1 TEK (4) 0.33333 1.00000 1.299e-4 3.908e-4 257 multiple endocrine neoplasia type 1 Pituitary gigantism 1 1 MEN1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 235 multiple symmetric lipomatosis with partial lipodystrophy Nail dystrophy 1 1 MFN2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Myeloproliferative disease, unclassifiable Myofibromatosis 1 1 PDGFRB (5) 0.33333 1.00000 1.299e-4 3.908e-4 MYH7-related skeletal myopathy Parieto-occipital craniosynostosis 1 1 MYH7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 104 Myosin storage myopathy Parieto-occipital craniosynostosis 1 1 MYH7 (2) 0.33333 1.00000 1.299e-4 3.908e-4 104 Myotonia Paramyotonia congenita 1 1 SCN4A (5) 0.33333 1.00000 1.299e-4 3.908e-4 170 Nasu-hakola disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 1 TYROBP (6) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 416 neurodegeneration with brain iron accumulation 9 Vitreoretinochoroidopathy 1 1 FTH1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 415 NKX2.5-related congenital, conduction and myopathic heart disease Splenic hypoplasia 1 1 NKX2-5 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 356 Normal pressure hydrocephalus spermatogenic failure 19 1 1 CFAP43 (4) 0.33333 1.00000 1.299e-4 3.908e-4 158 normophosphatemic familial tumoral calcinosis Spectrum and myeloid neoplasm risk 1 1 SAMD9 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Amyloid polyneuropathy obsolete hereditary ATTR amyloidosis 1 1 TTR (2) 0.33333 1.00000 1.299e-4 3.908e-4 185 obsolete lethal restrictive dermopathy Restrictive dermopathy 1 1 ZMPSTE24 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Ocular albinism with sensorineural deafness X-linked ocular abinism 1 0 AP3D1 (1) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 OFD1-related ciliopathy Otopalatodigital syndrome 1 1 OFD1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Opitz g/bbb syndrome Teebi syndrome 1 1 SPECC1L (4) 0.33333 1.00000 1.299e-4 3.908e-4 Opitz g/bbb syndrome Tessier facial cleft 1 1 SPECC1L (2) 0.33333 1.00000 1.299e-4 3.908e-4 25 Optic nerve disorder PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 25 Optic nerve disorder Urinary retention 1 1 EDN1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 25 Oropharyngeal dysphagia X-linked progressive cerebellar ataxia 1 1 ATP2B3 (3) 0.33333 1.00000 1.299e-4 3.908e-4 422 Osteogenic sarcoma Retinoblastoma 1 1 RB1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Osteopetrosis and infantile neuroaxonal dystrophy PLA2G6-associated neurodegeneration 1 1 PLA2G6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 123 Osteopetrosis and infantile neuroaxonal dystrophy Worth syndrome 1 1 LRP5 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 123 Congenital idiopathic intestinal pseudoobstruction Otopalatodigital syndrome 1 1 FLNA (5) 0.33333 1.00000 1.299e-4 3.908e-4 42 Otopalatodigital spectrum disorder Otopalatodigital syndrome 1 1 FLNA (5) 0.33333 1.00000 1.299e-4 3.908e-4 42 Otopalatodigital syndrome Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.33333 1.00000 1.299e-4 3.908e-4 42 Otopalatodigital syndrome X-linked ehlers-danlos syndrome 1 1 FLNA (6) 0.33333 1.00000 1.299e-4 3.908e-4 42 Otopalatodigital syndrome X-linked keloid scarring syndrome 1 1 FLNA (5) 0.33333 1.00000 1.299e-4 3.908e-4 42 Collagenopathy Otospondylomegaepiphyseal dysplasia 1 1 COL2A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 15 Coxa plana Otospondylomegaepiphyseal dysplasia 1 1 COL2A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 15 Czech dysplasia Otospondylomegaepiphyseal dysplasia 1 1 COL2A1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 15 Dysspondyloenchondromatosis Otospondylomegaepiphyseal dysplasia 1 1 COL2A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 15 kniest dysplasia Otospondylomegaepiphyseal dysplasia 1 1 COL2A1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 15 Palmoplantar keratoderma with congenital alopecia Schwartz-lelek syndrome 1 1 GJA1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Testicular anomaly with congenital heart disease 1 1 GATA4 (5) 0.33333 1.00000 1.299e-4 3.908e-4 106 Papa syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 1 PSTPIP1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Papillorenal syndrome Renal hypoplasia 1 1 PAX2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Paramyotonia congenita Potassium-aggravated myotonia 1 1 SCN4A (5) 0.33333 1.00000 1.299e-4 3.908e-4 170 Paramyotonia congenita SCN4A-related myopathy, autosomal recessive 1 1 SCN4A (6) 0.33333 1.00000 1.299e-4 3.908e-4 170 Paresis Trismus 1 1 BCHE (2) 0.33333 1.00000 1.299e-4 3.908e-4 397 Cardiac tamponade Paresis 1 1 PLAT (2) 0.33333 1.00000 1.299e-4 3.908e-4 Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dystonia 1 0 PRRT2 (1) 0.33333 1.00000 1.299e-4 3.908e-4 85 Paroxysmal ventricular fibrillation SCN5A-related cardiac rhythm disorder 1 1 SCN5A (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Partial atrioventricular canal defect Testicular anomaly with congenital heart disease 1 1 GATA4 (6) 0.33333 1.00000 1.299e-4 3.908e-4 106 Patterson stevenson fontaine syndrome Triphalangeal thumb-polysyndactyly syndrome 1 1 LMBR1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Congenital aniridia PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Pelger-huet anomaly Reynolds syndrome 1 1 LBR (6) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 281 Pelger-huet anomaly regressive spondylometaphyseal dysplasia 1 1 LBR (6) 0.33333 1.00000 1.299e-4 3.908e-4 281 Malignant hyperthermia Periodic paralysis with transient compartment-like syndrome 1 1 CACNA1S (5) 0.33333 1.00000 1.299e-4 3.908e-4 Peripheral pulmonary artery stenosis Tricho-dento-osseous syndrome 1 1 DLX3 (6) 0.33333 1.00000 1.299e-4 3.908e-4 perrault syndrome 3 Xq27.3 q28 duplication syndrome 1 1 CLPP (2) 0.33333 1.00000 1.299e-4 3.908e-4 Ataxia with deafness and vision loss phosphoribosylpyrophosphate synthetase superactivity 1 1 PRPS1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 253 phytanoyl-CoA hydroxylase deficiency Refsum disease 1 1 PHYH (2) 0.33333 1.00000 1.299e-4 3.908e-4 Pilosebaceous disorder Tibial hemimelia 1 1 GLI3 (2) 0.33333 1.00000 1.299e-4 3.908e-4 192 POLE-related polyposis and colorectal cancer syndrome Xfe progeroid syndrome 1 1 POLE (2) 0.33333 1.00000 1.299e-4 3.908e-4 POLR3A-related disorder Tremor-ataxia-central hypomyelination syndrome 1 1 POLR3A (3) 0.33333 1.00000 1.299e-4 3.908e-4 59 POLR3B-related disorder Tremor-ataxia-central hypomyelination syndrome 1 1 POLR3B (2) 0.33333 1.00000 1.299e-4 3.908e-4 59 polycystic liver disease 4 with or without kidney cysts Retinopathy background 1 1 LRP5 (2) 0.33333 1.00000 1.299e-4 3.908e-4 Posterior column ataxia with retinitis pigmentosa Retinopathy-sensory neuropathy syndrome 1 1 FLVCR1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Posttraumatic porencephalic cyst of brain 1 1 COL4A1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 33 Preaxial polydactyly with upper back hypertrichosis Triphalangeal thumb-polysyndactyly syndrome 1 1 SHH (3) 0.33333 1.00000 1.299e-4 3.908e-4 230 Primary cutaneous anaplastic large cell lymphoma Tyrosine kinase 2 deficiency 1 1 TYK2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Prostatic disease Water intoxication 1 1 OXT (2) 0.33333 1.00000 1.299e-4 3.908e-4 PRPH2-related retinopathy Retinitis pigmentosa, digenic 1 1 PRPH2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 69 Ataxia with deafness and vision loss PRPS1 deficiency disorder 1 1 PRPS1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 253 Pyoderma gangrenosum Sweet syndrome 1 1 PTPN6 (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 346 IFT140-related recessive ciliopathy Saldino-mainzer syndrome 1 1 IFT140 (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-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 3.908e-4 12 Bloch sulzberger syndrome IKBKG-related immunodeficiency with or without ectodermal dysplasia 1 1 IKBKG (2) 0.33333 1.00000 1.299e-4 3.908e-4 12 immunodeficiency due to CD25 deficiency Neonatal diabetes mellitus with congenital hypothyroidism 1 1 IL2RA (3) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema incontinentia pigmenti 1 1 IKBKG (3) 0.33333 1.00000 1.299e-4 3.908e-4 12 Autoinflammatory disease, systemic, x-linked incontinentia pigmenti 1 1 IKBKG (4) 0.33333 1.00000 1.299e-4 3.908e-4 12 Bloch sulzberger syndrome incontinentia pigmenti 1 1 IKBKG (2) 0.33333 1.00000 1.299e-4 3.908e-4 12 Childhood-onset glut1 deficiency syndrome 2 infantile convulsions and choreoathetosis 1 1 PRRT2 (2) 0.33333 1.00000 1.299e-4 3.908e-4 85 inherited thrombocytopenia Myofibromatosis 1 1 NOTCH3 (4) 0.33333 1.00000 1.299e-4 3.908e-4 374 Insulin resistant diabetes mellitus Insulin-resistant diabetes mellitus with acanthosis nigricans 1 1 INSR (3) 0.33333 1.00000 1.299e-4 3.908e-4 274 Donohue syndrome Insulin resistant diabetes mellitus 1 1 INSR (6) 0.33333 1.00000 1.299e-4 3.908e-4 274 Insulin resistant diabetes mellitus Type a insulin resistance syndrome 1 0 INSR (1) 0.33333 1.00000 1.299e-4 3.908e-4 274 Insulin resistant diabetes mellitus Insulin resistant diabetes mellitus with acanthosis nigricans 1 1 INSR (2) 0.33333 1.00000 1.299e-4 3.908e-4 274 Insulin resistant diabetes mellitus Leprechaunism syndrome 1 1 INSR (2) 0.33333 1.00000 1.299e-4 3.908e-4 274 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 3.908e-4 91 Intellectual developmental disorder dysmorphic microcephaly Intellectual developmental disorder growth microcephaly 1 1 CTCF (3) 0.33333 1.00000 1.299e-4 3.908e-4 Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Osteopathia striata with cranial sclerosis 1 1 CTNNB1 (2) 0.33333 1.00000 1.299e-4 3.908e-4 81 Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Vascular calcification 1 1 CTNNB1 (3) 0.33333 1.00000 1.299e-4 3.908e-4 81 Ebstein anomaly Intellectual developmental disorder hypotonia behavioral 1 1 CDK8 (4) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 117 Intellectual developmental disorder hypotonic x-linked Say meyer syndrome 1 0 HUWE1 (1) 0.33333 1.00000 1.299e-4 3.908e-4 117 Intellectual developmental disorder language autism Intellectual developmental disorder seizures hypotonia skeletal 1 1 FOXP1 (6) 0.33333 1.00000 1.299e-4 3.908e-4 267 Intellectual developmental disorder seizures dysmorphic gait Skraban-deardorff syndrome 1 1 WDR26 (6) 0.33333 1.00000 1.299e-4 3.908e-4 Intellectual developmental disorder seizures dysmorphic skeletal Intellectual developmental disorder seizures hypotonia skeletal 1 1 PIGT (2) 0.33333 1.00000 1.299e-4 3.908e-4 Intellectual developmental disorder seizures hypotonia skeletal multiple congenital anomalies-hypotonia-seizures syndrome 3 1 1 PIGT (2) 0.33333 1.00000 1.299e-4 3.908e-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 3.908e-4 286 Interleukin 1 receptor antagonist deficiency Sclerosis 1 1 IL1RN (2) 0.33333 1.00000 1.299e-4 3.908e-4 219 Interleukin 2 receptor deficiency Neonatal diabetes mellitus with congenital hypothyroidism 1 1 IL2RA (3) 0.33333 1.00000 1.299e-4 3.908e-4 416 Intermittent hydrarthrosis TNF receptor 1-associated periodic fever syndrome 1 1 TNFRSF1A (2) 0.33333 1.00000 1.299e-4 3.908e-4 Interrupted aortic arch Splenic hypoplasia 1 0 NKX2-5 (1) 0.33333 1.00000 1.299e-4 3.908e-4 166 Interstitial nephritis karyomegalic interstitial nephritis 1 1 FAN1 (4) 0.33333 1.00000 1.299e-4 3.908e-4 Intestinal polyposis peutz-jeghers syndrome 1 1 STK11 (3) 0.33333 1.00000 1.299e-4 3.908e-4 Intracranial embolism and thrombosis quebec platelet disorder 1 1 PLAU (3) 0.33333 1.00000 1.299e-4 3.908e-4 29 Cardiac tamponade Intracranial embolism and thrombosis 1 1 PLAT (2) 0.33333 1.00000 1.299e-4 3.908e-4 29 IRIDA syndrome Iron-refractory iron deficiency anemia 1 1 TMPRSS6 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Iridogoniodysgenesis Ring dermoid of cornea 1 1 PITX2 (5) 0.33333 1.00000 1.299e-4 3.908e-4 82 Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension Patellar aplasia 1 1 TBX4 (2) 0.33333 1.00000 1.299e-4 3.908e-4 27 Jervell and lange-nielsen syndrome long qt syndrome 5 1 1 KCNE1 (7) 0.33333 1.00000 1.299e-4 3.908e-4 Juvenile hyperuricemic nephropathy renal tubular dysgenesis of genetic origin 1 1 REN (3) 0.33333 1.00000 1.299e-4 3.908e-4 70 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 3.908e-4 Keppen-lubinsky syndrome MYH-6 related congenital heart defects 1 1 MYH6 (3) 0.33333 1.00000 1.299e-4 3.908e-4 328 Keratitis ichthyosis hearing loss syndrome Senter syndrome 1 1 GJB2 (3) 0.33333 1.00000 1.299e-4 3.908e-4 68 Keratitis ichthyosis hearing loss syndrome Vohwinkel syndrome 1 1 GJB2 (4) 0.33333 1.00000 1.299e-4 3.908e-4 68 keutel syndrome Vascular calcification 1 1 MGP (3) 0.33333 1.00000 1.299e-4 3.908e-4 81 kidney disorder Nephronophthisis-like nephropathy 1 1 SLC41A1 (5) 0.33333 1.00000 1.299e-4 3.908e-4 Lactic acidosis Normal pressure hydrocephalus 1 0 PMPCA (1) 0.33333 1.00000 1.299e-4 3.908e-4 158 Bicuspid aortic valve Hypoplastic left heart syndrome 2 2 NOTCH1 (3), NKX2-5 (5) 0.06452 0.14286 1.165e-4 3.908e-4 Congenital anomaly of limb Vacterl association 2 2 SALL1 (2), HOXD13 (3) 0.06452 0.12500 1.204e-4 3.908e-4 Substance-induced psychosis Tremor 2 0 HTR1A (1), ADORA2A (1) 0.06452 0.13333 1.195e-4 3.908e-4 Diabetic cardiomyopathy Potassium deficiency 2 2 INS (2), AGT (2) 0.06452 0.14286 1.165e-4 3.908e-4 Blepharoptosis Costello syndrome 2 2 PTPN11 (3), SOS1 (2) 0.06452 0.15385 1.116e-4 3.908e-4 49 Agammaglobulinemia Burkitt lymphoma 2 2 PIK3R1 (4), TCF3 (5) 0.06452 0.15385 1.116e-4 3.908e-4 184 Congenital brain malformation Congenital pontocerebellar hypoplasia 2 0 CHMP1A (1), TOE1 (1) 0.06452 0.13333 1.195e-4 3.908e-4 Congenital hypoplasia of part of brain Congenital pontocerebellar hypoplasia 2 0 CHMP1A (1), TOE1 (1) 0.06452 0.13333 1.195e-4 3.908e-4 Congenital pontocerebellar hypoplasia Microgyria 2 0 CHMP1A (1), TOE1 (1) 0.06452 0.13333 1.195e-4 3.908e-4 Hemorrhagic disease Thromboembolism 2 2 JAK2 (2), F7 (2) 0.06250 0.16667 1.160e-4 3.908e-4 36 Angina pectoris Keratitis 2 1 TLR4 (2), CXCL8 (1) 0.06061 0.16667 1.275e-4 3.908e-4 Hyperoxaluria Mucopolysaccharidosis 2 2 IDUA (5), SLC26A1 (2) 0.06061 0.16667 1.275e-4 3.908e-4 Central serous retinopathy Fuchs endothelial dystrophy 2 0 RORA (1), CFH (1) 0.06061 0.18182 1.164e-4 3.908e-4 Cardiofaciocutaneous syndrome Cerebral arteriovenous malformations 2 2 BRAF (7), KRAS (8) 0.06061 0.16667 1.275e-4 3.908e-4 Anti-neutrophil antibody associated vasculitis Gastroparesis 2 0 HLA-DQA1 (1), HLA-DPB1 (1) 0.06061 0.18182 1.164e-4 3.908e-4 1 Cutaneous lupus erythematosus Mixed connective tissue disease 2 1 HLA-DRB1 (2), KCNMB2 (1) 0.05882 0.18182 1.270e-4 3.908e-4 Hyperphosphatasia with intellectual disability syndrome Uranostaphyloschisis 2 1 SETD5 (1), PIGW (6) 0.05882 0.18182 1.270e-4 3.908e-4 Deafness, x-linked Leukodystrophy 2 1 AIFM1 (4), RAB33A (1) 0.05714 0.20000 1.224e-4 3.908e-4 Apraxia Language development disorders 2 2 BCL11A (2), FOXP2 (2) 0.05714 0.20000 1.224e-4 3.908e-4 Internet addiction disorder Peritoneal disease 2 0 DISC1 (1), ERBB4 (1) 0.05556 0.22222 1.139e-4 3.908e-4 Epithelial ovarian carcinoma Venous insufficiency 2 2 GSTT1 (2), ABO (2) 0.05556 0.22222 1.139e-4 3.908e-4 Spermatogenic failure, x-linked Testicular azoospermia 2 2 GCNA (3), TEX11 (4) 0.05000 0.25000 1.237e-4 3.908e-4 11 complex neurodevelopmental disorder with motor features Dystonia 2 2 KMT2B (7), CACNA1B (2) 0.04082 0.33333 1.188e-4 3.908e-4 Salivary gland neoplasms Transitional cell carcinoma 3 0 DAPK1 (1), CCND1 (1), ESPL1 (1) 0.04000 0.09091 1.119e-4 3.908e-4 Osteonecrosis Vesicoureteral reflux 3 0 CSGALNACT1 (1), PAG1 (1), ZNF704 (1) 0.04000 0.07895 1.192e-4 3.908e-4 Cerebral hemorrhage Otosclerosis 3 3 SPP1 (2), COL4A2 (2), KDR (2) 0.03846 0.10345 1.177e-4 3.908e-4 Glycine encephalopathy Hyperglycemia 2 2 GLDC (7), AMT (8) 0.03571 0.40000 1.111e-4 3.908e-4 Conotruncal cardiac defect Hereditary atrial fibrillation 3 3 NKX2-6 (6), NKX2-5 (6), GATA6 (6) 0.03529 0.12500 1.243e-4 3.908e-4 Ehlers-danlos syndrome Hemorrhoid 4 4 SMAD3 (2), THBS2 (5), MYH11 (2), COL5A2 (8) 0.03077 0.09091 1.186e-4 3.908e-4 Dupuytren contracture Primary angle closure glaucoma 3 0 GLIS3 (1), EPDR1 (1), SFRP4 (1) 0.02885 0.17647 1.197e-4 3.908e-4 Cystic fibrosis-related diabetes Lewy body disease 2 0 RAB7B (1), SLC26A9 (1) 0.02062 0.66667 1.125e-4 3.908e-4 Camos syndrome Sarcoidosis 2 2 ZNF592 (2), WDR73 (4) 0.01220 1.00000 1.114e-4 3.908e-4 Bone disease Dupuytren contracture 5 1 JAG1 (3), FMN2 (1), ZBTB40 (1), SFRP4 (1), STARD3NL (1) 0.02994 0.06098 1.107e-4 3.906e-4 303 Fatty liver Trifunctional protein deficiency 2 2 HADHA (2), HADHB (2) 0.02105 0.66667 1.078e-4 3.805e-4 Hypercalciuria Teratozoospermia 2 1 DCAF6 (1), ADCY10 (5) 0.05714 0.22222 1.058e-4 3.733e-4 Dental enamel hypoplasia Renal agenesis 2 2 DHX37 (2), ROBO1 (2) 0.06667 0.13333 1.055e-4 3.722e-4 Breast disease Triple negative breast cancer 2 0 CCDC91 (1), PTHLH (1) 0.05000 0.28571 9.870e-5 3.484e-4 Dysthymic disorder Panic disorder 2 0 CRH (1), MAOA (1) 0.05000 0.28571 9.870e-5 3.484e-4 Choroidal melanoma Uveal melanoma 2 0 TDP1 (1), LSM3 (1) 0.04444 0.33333 9.805e-5 3.462e-4 Hemorrhagic disease Macrothrombocytopenia 2 2 TPM4 (3), TUBB1 (3) 0.06452 0.18182 9.672e-5 3.416e-4 Myelomonocytic leukemia Systemic mastocytosis 2 0 ASXL1 (1), SRSF2 (1) 0.06250 0.20000 9.535e-5 3.368e-4 Epiphyseal dysplasia Skeletal dysplasia 2 1 SLC26A2 (4), COL1A1 (1) 0.06250 0.20000 9.535e-5 3.368e-4 Middle aortic syndrome Moyamoya disease 2 2 NF1 (2), RNF213 (6) 0.03077 0.50000 9.522e-5 3.364e-4 71 Cerebral amyloid angiopathy Conduct disorder 4 0 PTPRD (1), SLC7A2 (1), ADH1B (1), ADH1C (1) 0.03333 0.07692 9.506e-5 3.360e-4 Blepharoptosis Postsynaptic congenital myasthenic syndrome 2 2 CHRNE (3), CHRND (3) 0.06667 0.16667 9.451e-5 3.341e-4 Blepharoptosis Cardiofaciocutaneous syndrome 2 2 PTPN11 (3), SOS1 (2) 0.06667 0.16667 9.451e-5 3.341e-4 49 Down syndrome Tonic-clonic epilepsy 2 1 NTF3 (2), SNAP25 (1) 0.06667 0.16667 9.451e-5 3.341e-4 Cachexia Mouth disease 2 2 PTGS2 (2), GDF15 (2) 0.06667 0.16667 9.451e-5 3.341e-4 Developmental delay syndromic intellectual disability 3 3 TRIO (2), KAT6A (2), MED13L (2) 0.04167 0.08333 9.359e-5 3.310e-4 Combined immunodeficiency disease Pharyngeal disorder 3 3 IKZF1 (2), FOXN1 (3), CARMIL2 (2) 0.04110 0.09677 9.253e-5 3.274e-4 Fatty liver, alcoholic Trifunctional protein deficiency 2 1 HADHA (2), HADHB (1) 0.02273 0.66667 9.216e-5 3.261e-4 Angle closure glaucoma Pulmonary edema 2 2 CAT (2), NOS3 (2) 0.06897 0.14286 9.145e-5 3.236e-4 23 Avascular necrosis of bone Pulmonary edema 2 2 CAT (2), NOS3 (2) 0.06897 0.14286 9.145e-5 3.236e-4 23 Hyperemia Pulmonary edema 2 2 CAT (2), ADIPOQ (2) 0.06897 0.14286 9.145e-5 3.236e-4 Osteonecrosis of medial femoral condyle Pulmonary edema 2 2 CAT (2), NOS3 (2) 0.06897 0.14286 9.145e-5 3.236e-4 23 Congenital epicanthus Patent ductus arteriosus 2 0 ABCC9 (1), PTPN11 (1) 0.06897 0.14286 9.145e-5 3.236e-4 Cholangitis Dentinogenesis imperfecta 2 2 ITGB6 (2), COL1A1 (2) 0.06897 0.14286 9.145e-5 3.236e-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 3.177e-4 Hyperopia Retinal detachment 4 1 PTPRN2 (1), NOG (2), LAMA2 (1), RDH5 (1) 0.03279 0.08696 8.891e-5 3.150e-4 Byzanthine arch palate Eye abnormalities 2 2 TFAP2A (2), SHH (2) 0.06897 0.15385 8.885e-5 3.149e-4 Constitutional mismatch repair deficiency Eye abnormalities 2 2 APC (2), TGFBR2 (2) 0.06897 0.15385 8.885e-5 3.149e-4 Osteopetrosis Platelet disorder 2 1 FERMT3 (2), CD36 (1) 0.06897 0.15385 8.885e-5 3.149e-4 Bronchiectasis Congestive ophthalmopathy 2 2 ICAM1 (2), TNF (2) 0.06897 0.15385 8.885e-5 3.149e-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 3.093e-4 Delirium Keratitis 2 1 IL6 (1), CXCL8 (2) 0.06452 0.20000 8.709e-5 3.089e-4 Atrioventricular septal defect Hypoplastic left heart syndrome 2 0 FOXP1 (1), GJA1 (1) 0.06897 0.16667 8.460e-5 3.001e-4 Carcinogenesis Cardiofaciocutaneous syndrome 2 2 BRAF (7), KRAS (8) 0.06897 0.16667 8.460e-5 3.001e-4 Cervical intraepithelial neoplasia Toxic epidermal necrolysis 2 1 HLA-B (2), MICA (1) 0.04762 0.33333 8.376e-5 2.972e-4 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 2.965e-4 Granulomatous disease Williams syndrome 2 1 NCF1 (5), RNF157 (1) 0.06250 0.22222 8.326e-5 2.955e-4 12 Aneurysm Metaphyseal chondrodysplasia 2 2 FBN1 (2), MMP13 (5) 0.05882 0.25000 8.237e-5 2.924e-4 Congenital ear anomaly hearing loss, autosomal recessive 2 2 PTPRQ (2), PDZD7 (2) 0.05405 0.28571 8.186e-5 2.907e-4 Partial adenosine deaminase deficiency Pelvic organ prolapse 2 2 PKIG (2), ADA (2) 0.01429 1.00000 8.091e-5 2.873e-4 Lymphoblastic leukemia Post-operative stroke 2 0 TP63 (1), RYR2 (1) 0.03333 0.50000 8.040e-5 2.856e-4 Hyperemia Secondary parkinson disease 2 2 NOS2 (2), CNR2 (2) 0.07143 0.14286 8.006e-5 2.844e-4 Ataxia Childhood absence epilepsy 2 2 GABRA1 (2), SLC2A1 (3) 0.06667 0.20000 7.920e-5 2.814e-4 227 Down syndrome Transposition of the great arteries 2 2 MTHFR (2), SLC19A1 (2) 0.06897 0.18182 7.882e-5 2.801e-4 56 Hydrops fetalis Lymphatic malformation 2 2 CELSR1 (4), PIEZO1 (5) 0.07143 0.15385 7.843e-5 2.788e-4 Congenital vertebral-cardiac-renal anomalies syndrome Hyperopia 2 2 KYNU (3), NADSYN1 (3) 0.02469 0.66667 7.771e-5 2.763e-4 Anti-neutrophil antibody associated vasculitis Irritant dermatitis 2 2 HLA-DPB1 (3), HLA-DPA1 (3) 0.06452 0.22222 7.635e-5 2.715e-4 C1q deficiency Stevens-johnson syndrome 2 2 C1QA (5), C1QC (5) 0.02500 0.66667 7.575e-5 2.694e-4 Growth disorder Hemolysis 2 0 HMOX1 (1), ATP7A (1) 0.05000 0.33333 7.486e-5 2.663e-4 Charcot-marie-tooth disease Giant axonal neuropathy 2 2 GAN (7), DCAF8 (6) 0.01504 1.00000 7.294e-5 2.595e-4 Brain disease West syndrome 3 3 KCNQ2 (2), TSC2 (2), TSC1 (2) 0.04286 0.10000 7.278e-5 2.590e-4 Cushing's disease Potassium deficiency 2 0 POMC (1), NR3C1 (1) 0.07143 0.18182 7.055e-5 2.511e-4 Dry eye syndrome Polymyositis 3 2 THSD7A (1), IL1B (2), IL6 (2) 0.03896 0.13636 7.046e-5 2.508e-4 22 Penile hypospadia Polymicrogyria 2 1 FIG4 (3), PEX1 (1) 0.06250 0.25000 7.044e-5 2.508e-4 Aniridia Keratitis 2 2 ELP4 (5), PAX6 (6) 0.06667 0.22222 6.973e-5 2.483e-4 Severe congenital neutropenia Tubulointerstitial kidney disease 2 1 SEC61A1 (4), RUVBL1 (1) 0.06667 0.22222 6.973e-5 2.483e-4 Avascular necrosis of bone Spondylometaphyseal dysplasia 2 2 COL2A1 (5), TRPV4 (5) 0.07407 0.14286 6.942e-5 2.473e-4 23 Osteonecrosis of medial femoral condyle Spondylometaphyseal dysplasia 2 2 COL2A1 (5), TRPV4 (5) 0.07407 0.14286 6.942e-5 2.473e-4 23 Congenital epicanthus Pancytopenia 2 0 RPL17 (1), RPL17-C18orf32 (1) 0.07407 0.14286 6.942e-5 2.473e-4 Basal ganglia disease Tremor 2 2 CYP2D6 (2), DRD3 (3) 0.07407 0.15385 6.866e-5 2.447e-4 Bone fracture Glomerulonephritis 5 1 TPCN2 (1), ESR1 (3), CCDC102B (1), DOK6 (1), ACAP2 (1) 0.03106 0.07353 6.810e-5 2.427e-4 Antisocial personality disorder Conduct disorder 2 0 DRD4 (1), HTR1B (1) 0.03636 0.50000 6.683e-5 2.382e-4 Epithelial ovarian carcinoma Generalized lipodystrophy 2 2 FOS (2), CAV1 (2) 0.05882 0.28571 6.659e-5 2.374e-4 79 Oral cavity carcinoma Pemphigus vulgaris 2 1 HLA-DRA (1), HLA-DQB1 (2) 0.05882 0.28571 6.659e-5 2.374e-4 1 familial thoracic aortic aneurysm and aortic dissection Patent ductus arteriosus 2 2 FLNA (2), MYH11 (2) 0.07407 0.16667 6.641e-5 2.369e-4 Body weight Tonic-clonic epilepsy 2 2 BDNF (2), POMC (2) 0.07407 0.16667 6.641e-5 2.369e-4 Diffuse gastric adenocarcinoma Urinary system neoplasms 2 0 PSCA (1), LY6K (1) 0.07407 0.16667 6.641e-5 2.369e-4 Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex 1 1 KRT14 (6) 0.50000 1.00000 6.494e-5 2.317e-4 270 developmental and epileptic encephalopathy, 29 Leukoencephalopathy 1 1 AARS1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Developmental delay and seizures DHDDS-CDG 1 1 DHDDS (5) 0.50000 1.00000 6.494e-5 2.317e-4 Developmental delay due to metabolic enzyme deficiency methylmalonate semialdehyde dehydrogenase deficiency 1 1 ALDH6A1 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Developmental delay with hypotonia and behavioral abnormalities floating-harbor syndrome 1 1 SRCAP (5) 0.50000 1.00000 6.494e-5 2.317e-4 Developmental delay with immunodeficiency syndrome immunodeficiency, developmental delay, and hypohomocysteinemia 1 1 NFE2L2 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Developmental malformations-deafness-dystonia syndrome Dystonia-deafness syndrome 1 1 ACTB (5) 0.50000 1.00000 6.494e-5 2.317e-4 115 Diastrophic dysplasia Diastrophic dysplasia, broad bone-platyspondylic variant 1 1 SLC26A2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 190 Diastrophic dysplasia Ear disease 1 1 SLC26A2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 190 Diastrophic dysplasia SLC26A2-related skeletal dysplasia 1 1 SLC26A2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 190 Diastrophic dysplasia, broad bone-platyspondylic variant Ear disease 1 1 SLC26A2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 190 Diastrophic dysplasia, broad bone-platyspondylic variant SLC26A2-related skeletal dysplasia 1 1 SLC26A2 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-4 Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency hyperinsulinemic hypoglycemia, familial, 1 1 1 ABCC8 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Dicarboxylic aminoaciduria Dicarboxylicaminoaciduria 1 1 SLC1A1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 Dicer1 syndrome Dicer1 tumor-predisposition syndrome 1 1 DICER1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 216 Dicer1 syndrome Dicer1-related tumor predisposition 1 1 DICER1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 216 Dicer1 syndrome Sertoli-leydig cell tumor of ovary 1 1 DICER1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 216 Dicer1 tumor-predisposition syndrome Dicer1-related tumor predisposition 1 1 DICER1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 216 Dicer1 tumor-predisposition syndrome Sertoli-leydig cell tumor of ovary 1 0 DICER1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 216 Dicer1-related tumor predisposition Sertoli-leydig cell tumor of ovary 1 1 DICER1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 216 Diffuse nonepidermolytic palmoplantar keratoderma Keratosis of greither 1 1 KRT1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 187 Digital arthropathy-brachydactyly, familial Parastremmatic dwarfism 1 1 TRPV4 (5) 0.50000 1.00000 6.494e-5 2.317e-4 218 Digital arthropathy-brachydactyly, familial Scapuloperoneal spinal muscular atrophy 1 1 TRPV4 (6) 0.50000 1.00000 6.494e-5 2.317e-4 218 Digital arthropathy-brachydactyly, familial TRPV4-related bone disorder 1 1 TRPV4 (4) 0.50000 1.00000 6.494e-5 2.317e-4 218 Dilatation of left cardiac ventricle dilated cardiomyopathy 1R 1 1 ACTC1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 dilated cardiomyopathy 1A Emery dreifuss muscular dystrophy 1 1 LMNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 83 dilated cardiomyopathy 1A Severe lipodystrophic laminopathy 1 1 LMNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 83 dilated cardiomyopathy 1A Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1 1 LMNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 83 dilated cardiomyopathy 1A Lipoatrophic diabetes mellitus 1 1 LMNA (2) 0.50000 1.00000 6.494e-5 2.317e-4 83 dilated cardiomyopathy 1A Malouf syndrome 1 1 LMNA (2) 0.50000 1.00000 6.494e-5 2.317e-4 83 dilated cardiomyopathy 1E SCN5A-related cardiac rhythm disorder 1 0 SCN5A (1) 0.50000 1.00000 6.494e-5 2.317e-4 140 dilated cardiomyopathy 1EE MYH-6 related congenital heart defects 1 0 MYH6 (1) 0.50000 1.00000 6.494e-5 2.317e-4 328 dilated cardiomyopathy 1FF dilated cardiomyopathy 2A 1 0 TNNI3 (1) 0.50000 1.00000 6.494e-5 2.317e-4 dilated cardiomyopathy 1G Progressive contractures limb-girdle weakness muscle dystrophy syndrome 1 1 TTN (4) 0.50000 1.00000 6.494e-5 2.317e-4 221 dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy 1 1 TTN (4) 0.50000 1.00000 6.494e-5 2.317e-4 221 dilated cardiomyopathy 1G myopathy, myofibrillar, 9, with early respiratory failure 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 221 dilated cardiomyopathy 1G tibial muscular dystrophy 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 221 dilated cardiomyopathy 1G TTN-related myopathy, dominant-negative TTNsv 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 221 dilated cardiomyopathy 1J Sensorineural deafness with dilated cardiomyopathy 1 1 EYA4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 dilated cardiomyopathy 1KK MYPN-related myopathy 1 0 MYPN (1) 0.50000 1.00000 6.494e-5 2.317e-4 dilated cardiomyopathy 1O Intellectual disability and myopathy syndrome 1 1 ABCC9 (5) 0.50000 1.00000 6.494e-5 2.317e-4 234 dilated cardiomyopathy 1O hypertrichotic osteochondrodysplasia Cantu type 1 0 ABCC9 (1) 0.50000 1.00000 6.494e-5 2.317e-4 234 dilated cardiomyopathy 1S Myosin storage myopathy 1 1 MYH7 (3) 0.50000 1.00000 6.494e-5 2.317e-4 104 dilated cardiomyopathy 1S MYH7-related skeletal myopathy 1 0 MYH7 (1) 0.50000 1.00000 6.494e-5 2.317e-4 104 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Emery dreifuss muscular dystrophy 1 1 LMNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Severe lipodystrophic laminopathy 1 1 LMNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Lipoatrophic diabetes mellitus 1 1 LMNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 83 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Malouf syndrome 1 1 LMNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 83 Direct inguinal hernia loeys-dietz syndrome 2 1 1 TGFBR2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Distal anoctaminopathy gnathodiaphyseal dysplasia 1 1 ANO5 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Distal nebulin myopathy Nebulin-related myopathy 1 1 NEB (3) 0.50000 1.00000 6.494e-5 2.317e-4 333 Distal nebulin myopathy nemaline myopathy 2 1 1 NEB (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Distichiasis-lymphedema syndrome lymphedema-distichiasis syndrome 1 1 FOXC2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Ditra syndrome Von zumbuzschs disease 1 1 IL36RN (2) 0.50000 1.00000 6.494e-5 2.317e-4 Dkc1-related disorder dyskeratosis congenita, x-linked 1 1 DKC1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 393 Dominant beta-thalassemia Hemoglobin c disease 1 1 HBB (6) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobin c beta thalassemia 1 1 HBB (5) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobin d disease 1 1 HBB (5) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobin e beta thalassemia 1 1 HBB (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 Donohue syndrome Insulin-resistant diabetes mellitus with acanthosis nigricans 1 1 INSR (6) 0.50000 1.00000 6.494e-5 2.317e-4 274 Donohue syndrome Type a insulin resistance syndrome 1 1 INSR (6) 0.50000 1.00000 6.494e-5 2.317e-4 274 Donohue syndrome Insulin resistant diabetes mellitus with acanthosis nigricans 1 1 INSR (7) 0.50000 1.00000 6.494e-5 2.317e-4 274 Donohue syndrome Leprechaunism syndrome 1 1 INSR (7) 0.50000 1.00000 6.494e-5 2.317e-4 274 Donohue syndrome insulin-resistance syndrome type A 1 1 INSR (6) 0.50000 1.00000 6.494e-5 2.317e-4 274 Dopamine transporter deficiency syndrome SLC6A3-related dopamine transporter deficiency syndrome 1 1 SLC6A3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 336 Dosage-sensitive sex reversal X-linked adrenal hypoplasia congenita 1 1 NR0B1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Drash syndrome wilms tumor 1 1 1 WT1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 86 Dyserythropoietic anemia with abnormal platelets and neutropenia Dyserythropoietic anemia with thrombocytopenia 1 1 GATA1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 132 Dyserythropoietic anemia with abnormal platelets and neutropenia Thrombocytopenia with dyserythropoietic anemia 1 1 GATA1 (7) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 132 Dyserythropoietic anemia with thrombocytopenia Thrombocytopenia with dyserythropoietic anemia 1 1 GATA1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 132 Dyserythropoietic anemia with thrombocytopenia GATA1-Related X-Linked Cytopenia 1 1 GATA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 132 Dysgnathia complex Retrognathia 1 0 PRRX1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 381 dyskeratosis congenita, autosomal dominant 3 Revesz debuse syndrome 1 1 TINF2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 345 dyskeratosis congenita, autosomal dominant 3 Revesz syndrome 1 1 TINF2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 345 Dyskinesia with orofacial involvement Dyskinesia, familial, with facial myokymia 1 1 ADCY5 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Collagenopathy dysplasia of the proximal femoral epiphyses 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 15 Coxa plana dysplasia of the proximal femoral epiphyses 1 1 COL2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 15 Czech dysplasia dysplasia of the proximal femoral epiphyses 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 dysplasia of the proximal femoral epiphyses Dysspondyloenchondromatosis 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 dysplasia of the proximal femoral epiphyses kniest dysplasia 1 0 COL2A1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 15 Dysspondyloenchondromatosis kniest dysplasia 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 Dysspondyloenchondromatosis spondyloperipheral dysplasia 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 Dystransthyretinemic euthyroidal hyperthyroxinemia Senile systemic amyloidosis 1 1 TTR (2) 0.50000 1.00000 6.494e-5 2.317e-4 185 Dystransthyretinemic euthyroidal hyperthyroxinemia Transthyretin amyloid cardiomyopathy 1 1 TTR (2) 0.50000 1.00000 6.494e-5 2.317e-4 185 Dystransthyretinemic euthyroidal hyperthyroxinemia Wild-type transthyretin-related amyloidosis 1 1 TTR (2) 0.50000 1.00000 6.494e-5 2.317e-4 185 Dystransthyretinemic euthyroidal hyperthyroxinemia obsolete hereditary ATTR amyloidosis 1 1 TTR (3) 0.50000 1.00000 6.494e-5 2.317e-4 185 Dystrophinopathy progressive muscular dystrophy 1 1 DMD (2) 0.50000 1.00000 6.494e-5 2.317e-4 212 Ear disease SLC26A2-related skeletal dysplasia 1 1 SLC26A2 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Early-onset calcifying leukoencephalopathy-skeletal dysplasia leukoencephalopathy, diffuse hereditary, with spheroids 1 1 1 CSF1R (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Early-onset hypertension with severe exacerbation in pregnancy Pseudohypoaldosteronism 1 1 NR3C2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Early-onset hypertension with severe exacerbation in pregnancy pseudohyperaldosteronism type 2 1 1 NR3C2 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-4 221 Early-onset myopathy with fatal cardiomyopathy tibial muscular dystrophy 1 1 TTN (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 221 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome MEGF10-related myopathy 1 1 MEGF10 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Early-onset parkinsonism-intellectual disability syndrome Parkinsonism with cognitive impairment 1 1 RAB39B (5) 0.50000 1.00000 6.494e-5 2.317e-4 Early-onset parkinsonism-intellectual disability syndrome Waisman syndrome 1 1 RAB39B (6) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-4 432 East texas bleeding disorder thrombophilia due to activated protein c resistance 1 1 F5 (4) 0.50000 1.00000 6.494e-5 2.317e-4 84 ectodermal dysplasia WNT10A related Schopf-schulz-passarge syndrome 1 1 WNT10A (4) 0.50000 1.00000 6.494e-5 2.317e-4 EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition Hemoglobin high altitude adaptation 1 1 EGLN1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 ehlers-danlos syndrome, vascular type Vascular ehlers-danlos syndrome 1 1 COL3A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 350 Emery dreifuss muscular dystrophy Severe lipodystrophic laminopathy 1 1 LMNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 83 Emery dreifuss muscular dystrophy Lipoatrophic diabetes mellitus 1 1 LMNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 83 Emery dreifuss muscular dystrophy Malouf syndrome 1 1 LMNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 83 Encephaloclastic proliferative vasculopathy Fowler syndrome 1 1 FLVCR2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 encephalopathy, progressive, with amyotrophy and optic atrophy Kenny caffey syndrome 1 1 TBCE (4) 0.50000 1.00000 6.494e-5 2.317e-4 222 encephalopathy, progressive, with amyotrophy and optic atrophy Sanjad-sakati syndrome 1 1 TBCE (2) 0.50000 1.00000 6.494e-5 2.317e-4 222 enhanced s-cone syndrome Goldmann-favre syndrome 1 1 NR2E3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 11p partial monosomy syndrome Denys drash syndrome 1 1 WT1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 86 11p partial monosomy syndrome Drash syndrome 1 0 WT1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 86 11p partial monosomy syndrome wilms tumor 1 1 1 WT1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 86 12p12.1 microdeletion syndrome lamb-shaffer syndrome 1 1 SOX5 (3) 0.50000 1.00000 6.494e-5 2.317e-4 12q15q21 microdeletion syndrome Intellectual developmental disorder dysmorphic skeletal 1 1 CNOT2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 12q15q21 microdeletion syndrome Intellectual developmental disorder dysmorphic speech skeletal 1 1 CNOT2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 16p13.2 microdeletion syndrome hao-fountain syndrome 1 1 USP7 (2) 0.50000 1.00000 6.494e-5 2.317e-4 16q24.3 microdeletion syndrome kbg syndrome 1 1 ANKRD11 (2) 0.50000 1.00000 6.494e-5 2.317e-4 17,20-lyase deficiency Steroid 17-alpha-monooxygenase deficiency 1 1 CYP17A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 17q11.2 microduplication syndrome Cervical lymphadenopathy 1 1 NF1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 71 17q11.2 microduplication syndrome Watson syndrome 1 1 NF1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 71 17q21.31 microdeletion syndrome koolen-de vries syndrome 1 1 KANSL1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 17q23.1q23.2 microdeletion syndrome Amelia 1 1 TBX4 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 27 17q23.1q23.2 microdeletion syndrome Coxopodopatellar syndrome 1 1 TBX4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 27 17q23.1q23.2 microdeletion syndrome Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension 1 1 TBX4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 27 19p13.3 microduplication syndrome Malan syndrome 1 1 NFIX (6) 0.50000 1.00000 6.494e-5 2.317e-4 287 19p13.3 microduplication syndrome marshall-smith syndrome 1 1 NFIX (3) 0.50000 1.00000 6.494e-5 2.317e-4 287 1p21.3 microdeletion syndrome Dihydropyrimidine dehydrogenase deficiency 1 1 DPYD (6) 0.50000 1.00000 6.494e-5 2.317e-4 365 1p31p32 microdeletion syndrome Chromosome 1p32-p31 deletion syndrome 1 1 NFIA (3) 0.50000 1.00000 6.494e-5 2.317e-4 2,8-dihydroxyadenine urolithiasis Adenine phosphoribosyltransferase deficiency 1 1 APRT (2) 0.50000 1.00000 6.494e-5 2.317e-4 20p12.3 microdeletion syndrome Right ventricle hypoplasia 1 1 BMP2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 21q22.11q22.12 microdeletion syndrome Braddock-carey syndrome 1 1 KIF15 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 8q24.3 microdeletion syndrome Intellectual developmental disorder dysmorphic cardiac short stature 1 1 PUF60 (3) 0.50000 1.00000 6.494e-5 2.317e-4 370 8q24.3 microdeletion syndrome Verheij syndrome 1 1 PUF60 (3) 0.50000 1.00000 6.494e-5 2.317e-4 370 Aapoai amyloidosis Apolipoprotein a-i amyloidosis 1 1 APOA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 293 ABCA4-related retinopathy Atrophic retina 1 1 ABCA4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 150 Abcd syndrome Intestinal aganglionosis 1 1 EDNRB (2) 0.50000 1.00000 6.494e-5 2.317e-4 Abcd syndrome Waardenburg syndrome type 4A 1 1 EDNRB (2) 0.50000 1.00000 6.494e-5 2.317e-4 Abeta amyloidosis Amyloid angiopathy 1 1 APP (3) 0.50000 1.00000 6.494e-5 2.317e-4 151 Abeta amyloidosis Partial epilepsy with variable foci 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 Abeta amyloidosis Eye manifestations 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 Abeta amyloidosis cerebral amyloid angiopathy, app-related 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 Ablepharon macrostomia syndrome Barber-say syndrome 1 1 TWIST2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Ablepharon macrostomia syndrome Congenital ectodermal dysplasia of face 1 0 TWIST2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Abri amyloidosis Familial danish dementia 1 1 ITM2B (2) 0.50000 1.00000 6.494e-5 2.317e-4 Abruzzo-erickson syndrome Cleft palate with ankyloglossia 1 1 TBX22 (6) 0.50000 1.00000 6.494e-5 2.317e-4 226 Abruzzo-erickson syndrome Cleft palate x-linked 1 1 TBX22 (2) 0.50000 1.00000 6.494e-5 2.317e-4 226 Abruzzo-erickson syndrome X-linked cleft palate and ankloglossia 1 1 TBX22 (3) 0.50000 1.00000 6.494e-5 2.317e-4 226 Acces syndrome Chromosome 19q13.11 deletion syndrome 1 1 UBA2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Aceruloplasminemia Hemosiderosis 1 1 CP (3) 0.50000 1.00000 6.494e-5 2.317e-4 188 Acheiropody Patterson stevenson fontaine syndrome 1 1 LMBR1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Achondroplasia Camptodactyly, tall stature, and hearing loss syndrome 1 1 FGFR3 (5) 0.50000 1.00000 6.494e-5 2.317e-4 130 Achondroplasia Catshl syndrome 1 1 FGFR3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 130 Achondroplasia Crouzon syndrome with acanthosis nigricans 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 Achondroplasia Muenke syndrome 1 1 FGFR3 (6) 0.50000 1.00000 6.494e-5 2.317e-4 130 Achondroplasia Thanatophoric dysplasia 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 Acid sphingomyelinase deficiency Visceral acid sphingomyelinase deficiency 1 1 SMPD1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Acro-dermo-ungual-lacrimal-tooth syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate 1 1 TP63 (5) 0.50000 1.00000 6.494e-5 2.317e-4 30 Acro-dermo-ungual-lacrimal-tooth syndrome Limb-mammary syndrome 1 1 TP63 (5) 0.50000 1.00000 6.494e-5 2.317e-4 30 Acro-dermo-ungual-lacrimal-tooth syndrome Rudiger syndrome 1 1 TP63 (2) 0.50000 1.00000 6.494e-5 2.317e-4 30 Acro-dermo-ungual-lacrimal-tooth syndrome Sweat gland neoplasm 1 1 TP63 (2) 0.50000 1.00000 6.494e-5 2.317e-4 30 Acromegaloid facial appearance syndrome Intellectual disability and myopathy syndrome 1 1 ABCC9 (5) 0.50000 1.00000 6.494e-5 2.317e-4 234 Acromegaloid facial appearance syndrome hypertrichotic osteochondrodysplasia Cantu type 1 1 ABCC9 (2) 0.50000 1.00000 6.494e-5 2.317e-4 234 Acromegaloid facial appearance syndrome dilated cardiomyopathy 1O 1 1 ABCC9 (2) 0.50000 1.00000 6.494e-5 2.317e-4 234 ACTB-associated syndromic thrombocytopenia Becker nevus syndrome 1 1 ACTB (5) 0.50000 1.00000 6.494e-5 2.317e-4 115 ACTB-associated syndromic thrombocytopenia Congenital smooth muscle hamartoma 1 1 ACTB (4) 0.50000 1.00000 6.494e-5 2.317e-4 115 ACTB-associated syndromic thrombocytopenia Developmental malformations-deafness-dystonia syndrome 1 1 ACTB (5) 0.50000 1.00000 6.494e-5 2.317e-4 115 ACTB-associated syndromic thrombocytopenia Dystonia-deafness syndrome 1 1 ACTB (3) 0.50000 1.00000 6.494e-5 2.317e-4 115 Acys amyloidosis leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy 1 1 CST3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Adrenocortical carcinoma Choroid plexus carcinoma 1 1 TP53 (3) 0.50000 1.00000 6.494e-5 2.317e-4 88 Adrenocortical carcinoma Choroid plexus papilloma 1 1 TP53 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Adult-onset dystonia-parkinsonism Dystonia-parkinsonism-hypermanganesemia syndrome 1 1 SLC39A14 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Adult-onset proximal spinal muscular atrophy amyotrophic lateral sclerosis type 8 1 1 VAPB (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 agammaglobulinemia 7, autosomal recessive Short syndrome 1 1 PIK3R1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 376 agammaglobulinemia 7, autosomal recessive PIK3R1-related immunodeficiency and SHORT syndrome 1 0 PIK3R1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 376 Agat deficiency Arginine-glycine amidinotransferase deficiency 1 1 GATM (5) 0.50000 1.00000 6.494e-5 2.317e-4 Agnathia-otocephaly Dysgnathia complex 1 1 PRRX1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 381 Agnathia-otocephaly Retrognathia 1 1 PRRX1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 AKT2-related familial partial lipodystrophy hypoinsulinemic hypoglycemia and body hemihypertrophy 1 0 AKT2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Aland island eye disease CACNA1F-related retinopathy 1 1 CACNA1F (2) 0.50000 1.00000 6.494e-5 2.317e-4 384 Aldosterone-producing adenoma Breast cyst 1 1 CACNA1D (2) 0.50000 1.00000 6.494e-5 2.317e-4 116 Aldosterone-producing adenoma Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 1 1 CACNA1D (2) 0.50000 1.00000 6.494e-5 2.317e-4 116 Aldosterone-producing adenoma sinoatrial node dysfunction and deafness 1 1 CACNA1D (2) 0.50000 1.00000 6.494e-5 2.317e-4 116 Alkuraya-kucinskas syndrome Right aortic arch 1 1 BLTP1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Alpha thalassemia x-linked intellectual disability Atr-x syndrome 1 1 ATRX (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 117 Alpha-1 antitrypsin deficiency Beriberi 1 1 SERPINA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 236 Alpha-1 antitrypsin deficiency Panniculitis 1 1 SERPINA1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 236 Alpha-1 antitrypsin deficiency Thiamine deficiency 1 1 SERPINA1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 236 Alpha-2-plasmin inhibitor deficiency Congenital plasmin inhibitor deficiency 1 1 SERPINF2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Alpha-2-plasmin inhibitor deficiency Congenital alpha-2-antiplasmin deficiency 1 1 SERPINF2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Alpha-actinopathy Zebra body myopathy 1 1 ACTA1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 162 Alpha-n-acetylgalactosaminidase deficiency Schindler disease 1 1 NAGA (5) 0.50000 1.00000 6.494e-5 2.317e-4 Alveolar capillary dysplasia Congenital alveolar capillary dysplasia 1 1 FOXF1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Amaurosis hypertrichosis jalili syndrome 1 1 CNNM4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Amelia Chromosome 17q23.1-q23.2 duplication syndrome 1 1 TBX4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 27 Amelia Coxopodopatellar syndrome 1 1 TBX4 (4) 0.50000 1.00000 6.494e-5 2.317e-4 27 Amelia Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension 1 1 TBX4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 27 Amish nemaline myopathy nemaline myopathy 5 1 1 TNNT1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Amyloid angiopathy Partial epilepsy with variable foci 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 Amyloid angiopathy Eye manifestations 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 Amyloid angiopathy cerebral amyloid angiopathy, app-related 1 1 APP (3) 0.50000 1.00000 6.494e-5 2.317e-4 151 amyloidosis, hereditary systemic 6 Beta2-microglobulinic amyloidosis 1 1 B2M (2) 0.50000 1.00000 6.494e-5 2.317e-4 128 amyloidosis, hereditary systemic 6 Hypergammaglobulinemia 1 1 B2M (3) 0.50000 1.00000 6.494e-5 2.317e-4 128 amyloidosis, hereditary systemic 6 hypoproteinemia, hypercatabolic 1 0 B2M (1) 0.50000 1.00000 6.494e-5 2.317e-4 128 amyotrophic lateral sclerosis type 11 Bilateral parasagittal parieto-occipital polymicrogyria 1 1 FIG4 (5) 0.50000 1.00000 6.494e-5 2.317e-4 311 amyotrophic lateral sclerosis type 12 glaucoma, normal tension, susceptibility to 1 0 OPTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 amyotrophic lateral sclerosis type 22 autosomal dominant macrothrombocytopenia 1 0 TUBA4A (1) 0.50000 1.00000 6.494e-5 2.317e-4 amyotrophic lateral sclerosis, susceptibility to, 25 inherited neurodegenerative disorder 1 0 KIF5A (1) 0.50000 1.00000 6.494e-5 2.317e-4 Analbuminemia Blood protein disorder 1 1 ALB (3) 0.50000 1.00000 6.494e-5 2.317e-4 314 Analbuminemia Congenital analbuminemia 1 1 ALB (6) 0.50000 1.00000 6.494e-5 2.317e-4 314 Analbuminemia Dysalbuminemic hyperthyroxinemia 1 1 ALB (3) 0.50000 1.00000 6.494e-5 2.317e-4 314 Anaphylatoxin inactivator deficiency Carboxypeptidase n deficiency 1 1 CPN1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Anaplastic oligoastrocytoma Gemistocytic astrocytoma 1 0 IDH2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 200 anemia, nonspherocytic hemolytic, due to G6PD deficiency G6PD deficiency 1 0 G6PD (1) 0.50000 1.00000 6.494e-5 2.317e-4 12 Anemia, x-linked Dyserythropoietic anemia with thrombocytopenia 1 1 GATA1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 132 Anemia, x-linked Thrombocytopenia with dyserythropoietic anemia 1 1 GATA1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 132 Anemia, x-linked Dyserythropoietic anemia with abnormal platelets and neutropenia 1 1 GATA1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 132 Anemia, x-linked GATA1-Related X-Linked Cytopenia 1 1 GATA1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 132 Angiofollicular ganglionic hyperplasia Angiolymphoid hyperplasia 1 0 IL6 (1) 0.50000 1.00000 6.494e-5 2.317e-4 248 Angiofollicular ganglionic hyperplasia Castleman disease 1 1 IL6 (2) 0.50000 1.00000 6.494e-5 2.317e-4 248 Angiolymphoid hyperplasia Castleman disease 1 1 IL6 (2) 0.50000 1.00000 6.494e-5 2.317e-4 248 Ankyloblepharon-ectodermal defects-cleft lip/palate Limb-mammary syndrome 1 1 TP63 (6) 0.50000 1.00000 6.494e-5 2.317e-4 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Rudiger syndrome 1 1 TP63 (5) 0.50000 1.00000 6.494e-5 2.317e-4 30 Ankyloblepharon-ectodermal defects-cleft lip/palate Sweat gland neoplasm 1 1 TP63 (6) 0.50000 1.00000 6.494e-5 2.317e-4 30 Ankylosis Beare-stevenson cutis gyrata syndrome 1 1 FGFR2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 38 Ankylosis Cutis gyrata syndrome 1 1 FGFR2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 38 Anomalous pulmonary venous Deafness with cataract, intellectual disability, and polyneuropathy 1 1 PSMC3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Anterior compartment syndrome Heme oxygenase deficiency 1 1 HMOX1 (7) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Anterior pituitary function deficiency with variable immunodeficiency immunodeficiency, common variable, 10 1 1 NFKB2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 anterior segment dysgenesis 4 Ring dermoid of cornea 1 1 PITX2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 82 Antibody deficiency immunodeficiency, common variable, 3 1 1 CD19 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Aplasia of lacrimal and salivary glands Salivary gland agenesis 1 1 FGF10 (6) 0.50000 1.00000 6.494e-5 2.317e-4 321 Apolipoprotein a-ii amyloidosis Apolipoprotein a-ii deficiency 1 1 APOA2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital mitral valve atresia Intellectual developmental disorder language autism 1 1 FOXP1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 267 Congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy 1 1 RYR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 268 congenital myasthenic syndrome 2A congenital myasthenic syndrome 2C 1 0 CHRNB1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital myotonia Myotonia congenita 1 1 CLCN1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Congenital phimosis 1 0 ITGA3 (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Congenital pectus carinatum Coronary artery dissection 1 0 FBN1 (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Congenital prekallikrein deficiency inherited prekallikrein deficiency 1 1 KLKB1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital prothrombin deficiency thrombophilia due to thrombin defect 1 1 F2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 408 Congenital pulmonary valve atresia Testicular anomaly with congenital heart disease 1 1 GATA4 (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 106 Congenital retinal aneurysm Congenital retinal anomaly 1 0 RS1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital retinal aneurysm X-linked retinoschisis 1 1 RS1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital retinal anomaly X-linked retinoschisis 1 1 RS1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital sialidosis Sialidosis 1 1 NEU1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital small-platelet thrombocytopenia thrombocytopenia 3 1 1 FYB1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital smooth muscle hamartoma Developmental malformations-deafness-dystonia syndrome 1 1 ACTB (5) 0.50000 1.00000 6.494e-5 2.317e-4 115 Congenital smooth muscle hamartoma Dystonia-deafness syndrome 1 1 ACTB (3) 0.50000 1.00000 6.494e-5 2.317e-4 115 Connective and soft tissue disorder Vascular ehlers-danlos syndrome 1 1 COL3A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 350 Connective and soft tissue disorder ehlers-danlos syndrome, vascular type 1 1 COL3A1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-4 Cooks syndrome isolated Pierre-Robin syndrome 1 1 SOX9 (2) 0.50000 1.00000 6.494e-5 2.317e-4 164 Cooleys anemia Dominant beta-thalassemia 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin c disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin c beta thalassemia 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin d disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin e beta thalassemia 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Coproporphyria Hereditary coproporphyria 1 1 CPOX (5) 0.50000 1.00000 6.494e-5 2.317e-4 Coronary medial sclerosis of infancy hypopigmentation-punctate palmoplantar keratoderma syndrome 1 1 ENPP1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 207 Corpus callosum agenesis with abnormal genitalia X-linked lissencephaly 1 1 ARX (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 Cortical dysgenesis with pontocerebellar hypoplasia TUBB3-related tubulinopathy 1 1 TUBB3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Corticosterone methyl oxidase type i Corticosterone monooxygenase deficiency 1 1 CYP11B2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone methyl oxidase type i Corticosterone methyloxidase deficiency 1 1 CYP11B2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone methyl oxidase type i Familial hypoaldosteronism 1 1 CYP11B2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone methyl oxidase type i Hyperreninemic hypoaldosteronism 1 1 CYP11B2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone methyloxidase deficiency Corticosterone monooxygenase deficiency 1 1 CYP11B2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone methyloxidase deficiency Familial hypoaldosteronism 1 1 CYP11B2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone methyloxidase deficiency Hyperreninemic hypoaldosteronism 1 1 CYP11B2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone monooxygenase deficiency Familial hypoaldosteronism 1 1 CYP11B2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 177 Corticosterone monooxygenase deficiency Hyperreninemic hypoaldosteronism 1 1 CYP11B2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 177 Costeff optic atrophy syndrome optic atrophy 3 1 1 OPA3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Cousin syndrome Pelviscapular dysplasia 1 1 TBX15 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Coxa plana Czech dysplasia 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 15 Coxa plana Dysspondyloenchondromatosis 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 15 Coxa plana kniest dysplasia 1 1 COL2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 15 Coxa plana spondyloperipheral dysplasia 1 1 COL2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 15 Coxopodopatellar syndrome Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension 1 1 TBX4 (4) 0.50000 1.00000 6.494e-5 2.317e-4 27 Craniocerebral trauma Hereditary antithrombin deficiency 1 1 SERPINC1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Cranioosteoarthropathy Digital clubbing, isolated congenital 1 1 HPGD (4) 0.50000 1.00000 6.494e-5 2.317e-4 craniosynostosis 6 Turricephaly 1 1 ZIC1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Creatine transporter deficiency X-linked creatine transporter deficiency 1 1 SLC6A8 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 264 Cria syndrome immunodeficiency 57 1 1 RIPK1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 264 Cronkhite-canada syndrome Tibial hemimelia 1 0 GLI3 (1) 0.50000 1.00000 6.494e-5 2.317e-4 192 Cronkhite-canada syndrome greig cephalopolysyndactyly syndrome 1 1 GLI3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 192 Crouzon syndrome with acanthosis nigricans Muenke syndrome 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 Crouzon syndrome with acanthosis nigricans Thanatophoric dysplasia 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Cryptophthalmia Cryptotria 1 1 FREM2 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 81 Culler-jones syndrome Postaxial polydactyly–anterior pituitary anomalies–facial dysmorphism syndrome 1 1 GLI2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 169 Curry-jones syndrome Winter shortland temple syndrome 1 1 SMO (6) 0.50000 1.00000 6.494e-5 2.317e-4 297 Curry-jones syndrome mosaic SMO syndrome 1 1 SMO (5) 0.50000 1.00000 6.494e-5 2.317e-4 297 Cutis marmorata immunodeficiency 78 with autoimmunity and developmental delay 1 1 TPP2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Cystic kidney disease with ventriculomegaly Ventriculomegaly with cystic kidney disease 1 1 CRB2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Cystic kidney disease with ventriculomegaly focal segmental glomerulosclerosis 9 1 1 CRB2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Czech dysplasia Dysspondyloenchondromatosis 1 1 COL2A1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 15 Czech dysplasia kniest dysplasia 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 Czech dysplasia spondyloperipheral dysplasia 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 D-lactic aciduria D-lactic aciduria with gout 1 1 LDHD (2) 0.50000 1.00000 6.494e-5 2.317e-4 Dacryocystitis Sclerosis 1 1 IL1RN (2) 0.50000 1.00000 6.494e-5 2.317e-4 219 De barsy syndrome P5CS deficiency 1 1 ALDH18A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 De la chapelle dysplasia Diastrophic dysplasia 1 1 SLC26A2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 190 De la chapelle dysplasia Diastrophic dysplasia, broad bone-platyspondylic variant 1 0 SLC26A2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 190 De la chapelle dysplasia Ear disease 1 1 SLC26A2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 190 De la chapelle dysplasia SLC26A2-related skeletal dysplasia 1 1 SLC26A2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 190 Deaf blind hypopigmentation syndrome Yemenite deaf-blind hypopigmentation syndrome 1 1 SOX10 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Deaf blind hypopigmentation syndrome Waardenburg syndrome type 4C 1 1 SOX10 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Deafness and myopia high myopia-sensorineural deafness syndrome 1 1 SLITRK6 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 Deafness with congenital heart defects and posterior embryotoxon Hepatic ductular hypoplasia 1 1 JAG1 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 278 Deafness with congenital inner ear agenesis, microtia, and microdontia Otodental dysplasia 1 1 FGF3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 278 Deafness with congenital inner ear agenesis, microtia, and microdontia Otodental syndrome 1 1 FGF3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 278 Deafness with labyrinthine aplasia, microtia, and microdontia Otodental dysplasia 1 1 FGF3 (5) 0.50000 1.00000 6.494e-5 2.317e-4 278 Deafness with labyrinthine aplasia, microtia, and microdontia Otodental syndrome 1 1 FGF3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 278 Deafness-lymphedema-leukemia syndrome Gata2 deficiency 1 1 GATA2 (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 105 Delta zero thalassemia Delta-thalassemia 1 0 HBD (1) 0.50000 1.00000 6.494e-5 2.317e-4 Delta zero thalassemia Hemoglobin lepore beta thalassemia 1 1 HBD (2) 0.50000 1.00000 6.494e-5 2.317e-4 Delta-sarcoglycan-related limb-girdle muscular dystrophy r6 dilated cardiomyopathy 1L 1 1 SGCD (2) 0.50000 1.00000 6.494e-5 2.317e-4 Delta-thalassemia Hemoglobin lepore beta thalassemia 1 1 HBD (2) 0.50000 1.00000 6.494e-5 2.317e-4 Demyelinating leukodystrophy microcephaly 26, primary, autosomal dominant 1 1 LMNB1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Denys drash syndrome Drash syndrome 1 1 WT1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 86 Denys drash syndrome wilms tumor 1 1 1 WT1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 86 Dermatofibrosis lenticularis disseminata Osteopoikilosis 1 1 LEMD3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 143 Arginine vasopressin deficiency Hereditary arginine vasopressin deficiency 1 1 AVP (2) 0.50000 1.00000 6.494e-5 2.317e-4 Arhinia-choanal atresia-microphthalmia syndrome Bosma arhinia microphthalmia syndrome 1 1 SMCHD1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 324 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Carvajal syndrome 1 1 DSP (2) 0.50000 1.00000 6.494e-5 2.317e-4 206 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Erythrokeratodermia-cardiomyopathy syndrome 1 1 DSP (2) 0.50000 1.00000 6.494e-5 2.317e-4 206 arterial calcification, generalized, of infancy, 1 Cole disease 1 1 ENPP1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 207 arterial calcification, generalized, of infancy, 1 Coronary medial sclerosis of infancy 1 1 ENPP1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 207 arterial calcification, generalized, of infancy, 1 hypopigmentation-punctate palmoplantar keratoderma syndrome 1 0 ENPP1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 207 Arthrogryposis with anterior horn cell disease Congenital arthrogryposis with anterior horn cell disease 1 1 GLE1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Arts syndrome Prpp synthetase superactivity 1 1 PRPS1 (7) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 253 Arts syndrome phosphoribosylpyrophosphate synthetase superactivity 1 1 PRPS1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 253 Arts syndrome PRPS1 deficiency disorder 1 1 PRPS1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 253 ASAH1-related sphingolipidosis Farber disease 1 1 ASAH1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 asphyxiating thoracic dystrophy 2 Beemer-langer syndrome 1 1 IFT80 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Asymmetric crying face association Cayler cardiofacial syndrome 1 1 EYA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 134 Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome Distal anoctaminopathy 1 0 ANO5 (1) 0.50000 1.00000 6.494e-5 2.317e-4 191 Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome gnathodiaphyseal dysplasia 1 1 ANO5 (2) 0.50000 1.00000 6.494e-5 2.317e-4 191 Ataxia-hypogonadism-choroidal dystrophy syndrome Boucher-neuhauser syndrome 1 1 PNPLA6 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 121 Ataxia-hypogonadism-choroidal dystrophy syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 1 PNPLA6 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 121 Ataxia, sensory, autosomal dominant Sensory ataxia 1 1 RNF170 (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Ateleiotic dwarfism Isolated somatotropin deficiency 1 0 GH1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Athabaskan brainstem dysgenesis Bosley-salih-alorainy syndrome 1 1 HOXA1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 ATM-related cancer predisposition Conjunctival telangiectasis 1 1 ATM (2) 0.50000 1.00000 6.494e-5 2.317e-4 364 ATP1A3-associated neurological disorder Capos syndrome 1 1 ATP1A3 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 196 ATP6AP2-related disorder Parkinsonism with spasticity, x-linked 1 1 ATP6AP2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 ATP6AP2-related disorder X-linked parkinsonism-spasticity syndrome 1 1 ATP6AP2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Atr-x syndrome X-linked alpha-thalassemia-intellectual disability syndrome 1 1 ATRX (4) 0.50000 1.00000 6.494e-5 2.317e-4 117 atransferrinemia Congenital atransferrinemia 1 1 TF (4) 0.50000 1.00000 6.494e-5 2.317e-4 245 Atrophia bulborum heritaria Coats disease 1 1 NDP (2) 0.50000 1.00000 6.494e-5 2.317e-4 Atrophia bulborum heritaria norrie disease 1 1 NDP (2) 0.50000 1.00000 6.494e-5 2.317e-4 Atrophoderma vermiculata Burnett schwartz berberian syndrome 1 1 LRP1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 247 Atrophoderma vermiculata Tricuspid atresia 1 1 LRP1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 247 Atypical absence epilepsy Minor epilepsy 1 0 NPY (1) 0.50000 1.00000 6.494e-5 2.317e-4 Atypical absence epilepsy Nasal obstruction 1 1 NPY (2) 0.50000 1.00000 6.494e-5 2.317e-4 Atypical absence seizure Stress-induced neurodegenerative ataxia seizure syndrome 1 1 ADPRS (2) 0.50000 1.00000 6.494e-5 2.317e-4 atypical hemolytic-uremic syndrome with DGKE deficiency membranoproliferative glomerulonephritis 1 0 DGKE (1) 0.50000 1.00000 6.494e-5 2.317e-4 Atypical multiple mole melanoma syndrome Trisomy 1 1 CDKN2A (3) 0.50000 1.00000 6.494e-5 2.317e-4 45 Atypical multiple mole melanoma syndrome melanoma-pancreatic cancer syndrome 1 1 CDKN2A (3) 0.50000 1.00000 6.494e-5 2.317e-4 45 Autism-epilepsy syndrome Branched-chain keto acid dehydrogenase kinase deficiency 1 1 BCKDK (6) 0.50000 1.00000 6.494e-5 2.317e-4 Autoimmune enteropathy and endocrinopathy immunodeficiency 31b 1 1 STAT1 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 autoimmune lymphoproliferative syndrome type 2B Caspase 8 deficiency 1 1 CASP8 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Autoimmune pulmonary alveolar proteinosis Heerfordt syndrome 1 1 HLA-DRB1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 254 Autoimmunity-autoinflammation-immunodeficiency syndrome Autoinflammatory syndrome with immunodeficiency 1 1 SOCS1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 330 Autoimmunity-autoinflammation-immunodeficiency syndrome Autoinflammatory syndrome, familial, with or without immunodeficiency 1 1 SOCS1 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 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 2.317e-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 2.317e-4 Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia Papa syndrome 1 1 PSTPIP1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Autoinflammatory syndrome with immunodeficiency Autoinflammatory syndrome, familial, with or without immunodeficiency 1 1 SOCS1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 330 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 X-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency 1 1 ELF4 (5) 0.50000 1.00000 6.494e-5 2.317e-4 autosomal dominant osteopetrosis 2 hypopigmentation, organomegaly, and delayed myelination and development 1 0 CLCN7 (1) 0.50000 1.00000 6.494e-5 2.317e-4 265 autosomal dominant osteopetrosis 2 autosomal recessive osteopetrosis 4 1 0 CLCN7 (1) 0.50000 1.00000 6.494e-5 2.317e-4 265 autosomal recessive cutis laxa type 2A Wrinkly skin syndrome 1 1 ATP6V0A2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Autosomal recessive hypomyelinating leukodystrophy hypomyelinating leukodystrophy 13 1 1 HIKESHI (4) 0.50000 1.00000 6.494e-5 2.317e-4 autosomal recessive osteopetrosis 1 dysosteosclerosis 1 0 TCIRG1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 autosomal recessive osteopetrosis 4 hypopigmentation, organomegaly, and delayed myelination and development 1 0 CLCN7 (1) 0.50000 1.00000 6.494e-5 2.317e-4 265 autosomal recessive osteopetrosis 6 osteopetrosis, autosomal dominant 3 1 0 PLEKHM1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Dursun syndrome 1 1 G6PC3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 autosomal recessive spinocerebellar ataxia 14 spinocerebellar ataxia type 5 1 0 SPTBN2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Avellino corneal dystrophy Groenouw corneal dystrophy 1 1 TGFBI (3) 0.50000 1.00000 6.494e-5 2.317e-4 Avoidant restrictive food intake disorder Dysbetalipoproteinemia 1 1 APOE (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 168 Ayazi syndrome Choroideremia-deafness-obesity syndrome 1 1 POU3F4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 244 Ayazi syndrome Chromosome xq21 deletion syndrome 1 0 POU3F4 (1) 0.50000 1.00000 6.494e-5 2.317e-4 244 Ayazi syndrome Xq21 microdeletion syndrome 1 1 POU3F4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 244 B4GALT1-congenital disorder of glycosylation Combined low ldl and fibrinogen 1 1 B4GALT1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Bailey-Bloch congenital myopathy Native american myopathy 1 1 STAC3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 BAP1-related tumor predisposition syndrome Mucoepidermoid carcinoma 1 1 BAP1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 368 Barakat syndrome hypoparathyroidism-deafness-renal disease syndrome 1 1 GATA3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Barber-say syndrome Congenital ectodermal dysplasia of face 1 1 TWIST2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 bardet-biedl syndrome 11 Sarcotubular myopathy 1 1 TRIM32 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Bart-pumphrey syndrome Keratitis ichthyosis hearing loss syndrome 1 1 GJB2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 68 Beare-stevenson cutis gyrata syndrome Cutis gyrata syndrome 1 1 FGFR2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 38 Beck-fahrner syndrome Intellectual developmental disorder dysmorphic facial hearing joint 1 1 TET3 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Becker nevus syndrome Congenital smooth muscle hamartoma 1 1 ACTB (4) 0.50000 1.00000 6.494e-5 2.317e-4 115 Becker nevus syndrome Developmental malformations-deafness-dystonia syndrome 1 1 ACTB (5) 0.50000 1.00000 6.494e-5 2.317e-4 115 Becker nevus syndrome Dystonia-deafness syndrome 1 1 ACTB (4) 0.50000 1.00000 6.494e-5 2.317e-4 115 Benign concentric annular macular dystrophy IMPG1-related dominant retinopathy 1 1 IMPG1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 310 Benign concentric annular macular dystrophy IMPG1-related recessive retinopathy 1 1 IMPG1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 310 Benign congenital myopathy Dystrophinopathy 1 0 DMD (1) 0.50000 1.00000 6.494e-5 2.317e-4 212 Benign congenital myopathy progressive muscular dystrophy 1 1 DMD (2) 0.50000 1.00000 6.494e-5 2.317e-4 212 Benign essential blepharospasm Blepharospasm 1 1 DRD5 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Benign fasciculation-cramp syndrome Cramp-fasciculation syndrome 1 1 TRPA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Benign samaritan congenital myopathy Central core disease 1 1 RYR1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 268 Benign samaritan congenital myopathy Central core myopathy 1 1 RYR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 268 Benign samaritan congenital myopathy Congenital multicore myopathy with external ophthalmoplegia 1 1 RYR1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 268 Benign samaritan congenital myopathy RYR1-related myopathy 1 1 RYR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 268 Benta disease immunodeficiency 11b with atopic dermatitis 1 1 CARD11 (4) 0.50000 1.00000 6.494e-5 2.317e-4 335 Benta disease severe combined immunodeficiency due to CARD11 deficiency 1 1 CARD11 (4) 0.50000 1.00000 6.494e-5 2.317e-4 335 Beriberi Panniculitis 1 1 SERPINA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 236 Beriberi Thiamine deficiency 1 1 SERPINA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 236 Beta-aminoisobutyric aciduria Claudication 1 1 AGXT2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Beta-propeller protein-associated neurodegeneration X-linked optic atrophy 1 1 WDR45 (2) 0.50000 1.00000 6.494e-5 2.317e-4 412 Beta-propeller protein-associated neurodegeneration X-linked cerebral cerebellar coloboma syndrome 1 1 WDR45 (2) 0.50000 1.00000 6.494e-5 2.317e-4 412 beta-thalassemia HBB/LCRB Cooleys anemia 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 beta-thalassemia HBB/LCRB Dominant beta-thalassemia 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 beta-thalassemia HBB/LCRB Hemoglobin c disease 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 beta-thalassemia HBB/LCRB Hemoglobin c beta thalassemia 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 beta-thalassemia HBB/LCRB Hemoglobin d disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Beta2-microglobulinic amyloidosis Hypergammaglobulinemia 1 1 B2M (2) 0.50000 1.00000 6.494e-5 2.317e-4 128 Beta2-microglobulinic amyloidosis hypoproteinemia, hypercatabolic 1 1 B2M (2) 0.50000 1.00000 6.494e-5 2.317e-4 128 Bifid nail OFD1-related ciliopathy 1 1 OFD1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Bilateral congenital mydriasis spinocerebellar ataxia type 29 1 1 ITPR1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Bilateral congenital vertical talus Vertical talus 1 1 HOXD10 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Bilateral microtia with deafness and cleft palate syndrome Microtia 1 1 HOXA2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Bilateral multicystic dysplastic kidney Renal dysplasia 1 1 HNF1B (2) 0.50000 1.00000 6.494e-5 2.317e-4 145 Bilateral multicystic dysplastic kidney Giant cell tumor of tendon sheath 1 1 HNF1B (2) 0.50000 1.00000 6.494e-5 2.317e-4 145 Bilateral multicystic dysplastic kidney Multicystic dysplastic kidney 1 1 HNF1B (3) 0.50000 1.00000 6.494e-5 2.317e-4 145 Bilateral vestibulopathy Cerebellar ataxia with neuropathy and bilateral vestibular areflexia 1 1 RFC1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 243 Biotin-thiamine-responsive basal ganglia disease Thiamine-responsive encephalopathy 1 1 SLC19A3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Birk-landau-perez syndrome psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 1 1 SLC30A9 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Biventricular noncompaction cardiomyopathy Myosin storage myopathy 1 1 MYH7 (2) 0.50000 1.00000 6.494e-5 2.317e-4 104 Biventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy 1 1 MYH7 (2) 0.50000 1.00000 6.494e-5 2.317e-4 104 Biventricular noncompaction cardiomyopathy dilated cardiomyopathy 1S 1 1 MYH7 (2) 0.50000 1.00000 6.494e-5 2.317e-4 104 Bladder dysfunction Urinary bladder dysfunction 1 1 CHRNA3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Blau syndrome Granulomatous inflammatory arthritis-dermatitis-uveitis, familial 1 1 NOD2 (7) 0.50000 1.00000 6.494e-5 2.317e-4 401 Blau syndrome Yao syndrome 1 1 NOD2 (7) 0.50000 1.00000 6.494e-5 2.317e-4 401 bleeding disorder, platelet-type, 21 Paris-trousseau thrombocytopenia 1 1 FLI1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 bleeding disorder, platelet-type, 21 Peripheral primitive neuroectodermal tumor 1 1 FLI1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Bleeding esophageal varices Esophageal and gastric varices 1 1 SST (2) 0.50000 1.00000 6.494e-5 2.317e-4 340 Blomstrand lethal chondrodysplasia Eiken skeletal dysplasia 1 1 PTH1R (6) 0.50000 1.00000 6.494e-5 2.317e-4 Blood protein disorder Congenital analbuminemia 1 1 ALB (4) 0.50000 1.00000 6.494e-5 2.317e-4 314 Blood protein disorder Dysalbuminemic hyperthyroxinemia 1 0 ALB (1) 0.50000 1.00000 6.494e-5 2.317e-4 314 Bockenheimer syndrome Mucocutaneous venous malformations 1 1 TEK (2) 0.50000 1.00000 6.494e-5 2.317e-4 257 Bockenheimer syndrome TEK-related primary glaucoma 1 1 TEK (2) 0.50000 1.00000 6.494e-5 2.317e-4 257 Bohring-opitz-like syndrome Perching syndrome 1 1 KLHL7 (5) 0.50000 1.00000 6.494e-5 2.317e-4 343 Boomerang dysplasia FLNB-associated autosomal dominant filamin related bone disorder 1 1 FLNB (6) 0.50000 1.00000 6.494e-5 2.317e-4 Borjeson-forssman-lehmann syndrome Congenital hypoplasia of penis 1 1 PHF6 (7) 0.50000 1.00000 6.494e-5 2.317e-4 418 Bothnia retinal dystrophy RLBP1-related retinopathy 1 1 RLBP1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 Boucher-neuhauser syndrome Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome 1 1 PNPLA6 (3) 0.50000 1.00000 6.494e-5 2.317e-4 121 Boucher-neuhauser syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 1 PNPLA6 (4) 0.50000 1.00000 6.494e-5 2.317e-4 121 Boucher-neuhauser syndrome retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 1 PNPLA6 (2) 0.50000 1.00000 6.494e-5 2.317e-4 121 Boucher-neuhauser syndrome PNPLA6-related spastic paraplegia with or without ataxia 1 1 PNPLA6 (2) 0.50000 1.00000 6.494e-5 2.317e-4 121 Brachial plexus neuritis Neuralgic amyotrophy 1 1 SEPTIN9 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Brachydactyly with hypertension Hypertension and brachydactyly syndrome 1 1 PDE3A (4) 0.50000 1.00000 6.494e-5 2.317e-4 Brachydactyly-short stature-retinits pigmentosa syndrome Metaphyseal chondrodysplasia with retinitis pigmentosa 1 1 CWC27 (6) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 316 Brachydactyly-syndactyly syndrome Brachymesophalangy 1 1 HOXD13 (5) 0.50000 1.00000 6.494e-5 2.317e-4 111 Brachydactyly-syndactyly syndrome Zygodactyly 1 1 HOXD13 (5) 0.50000 1.00000 6.494e-5 2.317e-4 111 Brachymesophalangy Zygodactyly 1 1 HOXD13 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Brachyrachia Congenital benign spinal muscular atrophy 1 1 TRPV4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 218 Brachyrachia Digital arthropathy-brachydactyly, familial 1 1 TRPV4 (4) 0.50000 1.00000 6.494e-5 2.317e-4 218 Brachyrachia Parastremmatic dwarfism 1 1 TRPV4 (5) 0.50000 1.00000 6.494e-5 2.317e-4 218 Brachyrachia Scapuloperoneal spinal muscular atrophy 1 1 TRPV4 (5) 0.50000 1.00000 6.494e-5 2.317e-4 218 Brachyrachia TRPV4-related bone disorder 1 1 TRPV4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 218 Brain abnormalities neurodegeneration dysosteosclerosis Early-onset calcifying leukoencephalopathy-skeletal dysplasia 1 1 CSF1R (6) 0.50000 1.00000 6.494e-5 2.317e-4 Brain abnormalities neurodegeneration dysosteosclerosis leukoencephalopathy, diffuse hereditary, with spheroids 1 1 1 CSF1R (5) 0.50000 1.00000 6.494e-5 2.317e-4 Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome Bresek syndrome 1 1 MBTPS2 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 346 Brain tumor-polyposis syndrome Familial adenomatous polyposis 1 1 APC (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 Branchial arch abnormalities syndrome Branchial cleft anomalies 1 1 KMT2D (3) 0.50000 1.00000 6.494e-5 2.317e-4 95 BRCA1-related cancer predisposition fanconi anemia, complementation group s 1 0 BRCA1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 BRCA2-related cancer predisposition fanconi anemia complementation group d1 1 0 BRCA2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Breast cyst Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 1 1 CACNA1D (3) 0.50000 1.00000 6.494e-5 2.317e-4 116 Breast cyst sinoatrial node dysfunction and deafness 1 1 CACNA1D (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Bresek syndrome ifap syndrome 1, with or without bresheck syndrome 1 1 MBTPS2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 346 Brooke-spiegler syndrome Familial cylindromatosis 1 1 CYLD (5) 0.50000 1.00000 6.494e-5 2.317e-4 Brooke-spiegler syndrome Multiple familial trichoepithelioma 1 1 CYLD (5) 0.50000 1.00000 6.494e-5 2.317e-4 Brooke-spiegler syndrome frontotemporal dementia and/or amyotrophic lateral sclerosis 8 1 1 CYLD (5) 0.50000 1.00000 6.494e-5 2.317e-4 Brown oculocutaneous albinism oculocutaneous albinism type 2 1 1 OCA2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Bruton type agammaglobulinemia X-linked agammaglobulinemia 1 1 BTK (6) 0.50000 1.00000 6.494e-5 2.317e-4 406 Bruton type agammaglobulinemia X-linked hypogammaglobulinemia 1 1 BTK (4) 0.50000 1.00000 6.494e-5 2.317e-4 406 Bulbo-spinal atrophy, x-linked Partial androgen insensitivity syndrome 1 1 AR (5) 0.50000 1.00000 6.494e-5 2.317e-4 204 Bulbo-spinal atrophy, x-linked Kennedy disease 1 1 AR (3) 0.50000 1.00000 6.494e-5 2.317e-4 204 Bullous diffuse cutaneous mastocytosis Mast cell leukemia 1 0 KIT (1) 0.50000 1.00000 6.494e-5 2.317e-4 420 Bullous diffuse cutaneous mastocytosis Telangiectasia macularis eruptiva perstans 1 1 KIT (2) 0.50000 1.00000 6.494e-5 2.317e-4 420 Bullous diffuse cutaneous mastocytosis Testicular seminoma 1 0 KIT (1) 0.50000 1.00000 6.494e-5 2.317e-4 420 Bullous diffuse cutaneous mastocytosis Urticaria pigmentosa 1 0 KIT (1) 0.50000 1.00000 6.494e-5 2.317e-4 420 Bullous pyoderma gangrenosum Pyoderma gangrenosum 1 1 PTPN6 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Burnett schwartz berberian syndrome Tricuspid atresia 1 0 LRP1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 247 Buschke-ollendorff syndrome Dermatofibrosis lenticularis disseminata 1 1 LEMD3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 143 Buschke-ollendorff syndrome Osteopoikilosis 1 1 LEMD3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 143 Butyrylcholinesterase deficiency Trismus 1 1 BCHE (5) 0.50000 1.00000 6.494e-5 2.317e-4 397 Café-au-lait macules LZTR1-related schwannomatosis 1 1 LZTR1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Caffey disease Maternal hypertension 1 1 COL1A1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 93 Caffey disease Rhizomelia 1 1 COL1A1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 93 Caffey disease COL1A1-related Ehlers-Danlos syndrome 1 1 COL1A1 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Campomelic dysplasia Camptomelic dysplasia 1 1 SOX9 (7) 0.50000 1.00000 6.494e-5 2.317e-4 164 Campomelic dysplasia Cooks syndrome 1 1 SOX9 (6) 0.50000 1.00000 6.494e-5 2.317e-4 164 Campomelic dysplasia isolated Pierre-Robin syndrome 1 1 SOX9 (6) 0.50000 1.00000 6.494e-5 2.317e-4 164 Camptodactyly, tall stature, and hearing loss syndrome Catshl syndrome 1 1 FGFR3 (6) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 130 Camptodactyly, tall stature, and hearing loss syndrome Muenke syndrome 1 1 FGFR3 (6) 0.50000 1.00000 6.494e-5 2.317e-4 130 Camptodactyly, tall stature, and hearing loss syndrome Thanatophoric dysplasia 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 Camptomelic dysplasia Cooks syndrome 1 1 SOX9 (3) 0.50000 1.00000 6.494e-5 2.317e-4 164 Camptomelic dysplasia isolated Pierre-Robin syndrome 1 1 SOX9 (2) 0.50000 1.00000 6.494e-5 2.317e-4 164 Camptosynpolydactyly Gollop-wolfgang complex 1 1 BHLHA9 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma Dyschromatosis 1 1 SASH1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 378 Capos syndrome Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 1 1 ATP1A3 (6) 0.50000 1.00000 6.494e-5 2.317e-4 196 Carbamazepine hypersensitivity Thrombophlebitis 1 1 HLA-B (2) 0.50000 1.00000 6.494e-5 2.317e-4 179 Carbonic anhydrase deficiency Hyperammonemic encephalopathy 1 1 CA5A (6) 0.50000 1.00000 6.494e-5 2.317e-4 Carcinoid syndrome Intestinal cancer 1 1 SDHD (2) 0.50000 1.00000 6.494e-5 2.317e-4 78 Carcinoma in situ Urinary bladder neck obstruction 1 0 PTGS2 (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-4 Cardiogenetic disease Repolarization syndrome 1 1 CACNB2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 cardiomyopathy, dilated, 2l dilated cardiomyopathy 1C 1 0 LDB3 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Carnitine deficiency Systemic primary carnitine deficiency 1 1 SLC22A5 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Carvajal syndrome Erythrokeratodermia-cardiomyopathy syndrome 1 1 DSP (2) 0.50000 1.00000 6.494e-5 2.317e-4 206 Casgid syndrome Glutaminase deficiency 1 1 GLS (4) 0.50000 1.00000 6.494e-5 2.317e-4 Casgid syndrome infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 1 1 GLS (2) 0.50000 1.00000 6.494e-5 2.317e-4 Cataract-alopecia-sclerodactyly syndrome Palmoplantar keratoderma and congenital alopecia 1 1 LSS (3) 0.50000 1.00000 6.494e-5 2.317e-4 386 Cataract-corneal dystrophy syndrome PAX6-related ocular dysgenesis 1 1 PAX6 (2) 0.50000 1.00000 6.494e-5 2.317e-4 25 Cataract-neurodevelopmental syndrome Peroxisomal fatty acyl-coa reductase 1 disorder 1 1 FAR1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Cataract-neurodevelopmental syndrome fatty acyl-CoA reductase 1 upregulation 1 1 FAR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Cataract-neurodevelopmental syndrome fatty acyl-CoA reductase 1 deficiency 1 1 FAR1 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Catshl syndrome Crouzon syndrome with acanthosis nigricans 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 Catshl syndrome Muenke syndrome 1 1 FGFR3 (6) 0.50000 1.00000 6.494e-5 2.317e-4 130 Catshl syndrome Thanatophoric dysplasia 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 Caudal duplication anomaly Craniometadiaphyseal osteosclerosis with hip dysplasia 1 1 AXIN1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Caudate atrophy Nasu-hakola disease 1 1 TYROBP (2) 0.50000 1.00000 6.494e-5 2.317e-4 348 Caveolinopathy Creatine phosphokinase elevation 1 1 CAV3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 349 Cednik syndrome Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome 1 1 SNAP29 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Central apnea Neonatal encephalopathy 1 1 MECP2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 55 Central core disease Central core myopathy 1 1 RYR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 268 Central core disease Congenital multicore myopathy with external ophthalmoplegia 1 1 RYR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 268 Central core disease RYR1-related myopathy 1 1 RYR1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 268 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia 1 1 RYR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 268 Central core myopathy RYR1-related myopathy 1 1 RYR1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 268 Central hypothyroidism Neurooculorenal syndrome 1 1 ROBO1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Central retinal vein occlusion hereditary thrombophilia due to congenital protein C deficiency 1 1 PROC (2) 0.50000 1.00000 6.494e-5 2.317e-4 325 Cerebellar ataxia with deafness and narcolepsy Cerebellar ataxia, deafness, and narcolepsy 1 1 DNMT1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 332 Cerebellar ataxia with hearing loss lichtenstein-knorr syndrome 1 1 SLC9A1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Cerebelloparenchymal disorder Lactic acidosis 1 1 PMPCA (2) 0.50000 1.00000 6.494e-5 2.317e-4 158 cerebral amyloid angiopathy, app-related Partial epilepsy with variable foci 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 cerebral amyloid angiopathy, app-related Eye manifestations 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 inherited thrombocytopenia 1 0 NOTCH3 (1) 0.50000 1.00000 6.494e-5 2.317e-4 374 Cerebral embolism Intracranial embolism 1 0 KL (1) 0.50000 1.00000 6.494e-5 2.317e-4 351 Cerebrotendinous xanthomatosis Cholestanol storage disease 1 1 CYP27A1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Cervical lymphadenopathy Watson syndrome 1 1 NF1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 71 Charcot-Marie-Tooth disease axonal type 2N Leukoencephalopathy 1 1 AARS1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Charcot-Marie-Tooth disease axonal type 2N developmental and epileptic encephalopathy, 29 1 0 AARS1 (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 168 Charcot-Marie-Tooth disease type 2T Congenital membranous nephropathy 1 1 MME (4) 0.50000 1.00000 6.494e-5 2.317e-4 Childhood myocerebrohepatopathy spectrum Schilder disease 1 1 POLG (2) 0.50000 1.00000 6.494e-5 2.317e-4 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia myopathy, proximal, and ophthalmoplegia 1 1 MYH2 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 413 Childhood-onset common variable immunodeficiency due to arhgef1 deficiency immunodeficiency 62 1 1 ARHGEF1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Cholestasis-pigmentary retinopathy-cleft palate syndrome MED12-related intellectual disability syndrome 1 1 MED12 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Cholesterol ester storage disease Wolman disease 1 1 LIPA (6) 0.50000 1.00000 6.494e-5 2.317e-4 Cholesterol ester storage disease lysosomal acid lipase deficiency 1 1 LIPA (6) 0.50000 1.00000 6.494e-5 2.317e-4 Chondroblastoma Hemiparkinsonism hemiatrophy syndrome 1 1 H3-3B (2) 0.50000 1.00000 6.494e-5 2.317e-4 Chondrodysplasia-difference of sex development syndrome Chondrodysplasia-pseudohypohermaphroditism syndrome 1 1 HHAT (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-4 121 Choroid plexus carcinoma Choroid plexus papilloma 1 1 TP53 (4) 0.50000 1.00000 6.494e-5 2.317e-4 88 Choroideremia-deafness-obesity syndrome Chromosome xq21 deletion syndrome 1 1 POU3F4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 244 Choroideremia-deafness-obesity syndrome Xq21 microdeletion syndrome 1 1 POU3F4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 244 Christianson syndrome Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment 1 1 SLC9A6 (5) 0.50000 1.00000 6.494e-5 2.317e-4 282 Chromosome 10q deletion syndrome Developmental delay with ataxia, hypotonia, and facial dysmorphism 1 1 EBF3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Chromosome 10q deletion syndrome hypotonia, ataxia, and delayed development syndrome 1 1 EBF3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Chromosome 15q24 deletion syndrome SIN3A-related intellectual disability syndrome 1 1 SIN3A (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 99 Chromosome 17q23.1-q23.2 deletion syndrome Epilepsy with myoclonic absence 1 1 SLC2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 99 Chromosome 17q23.1-q23.2 deletion syndrome GLUT1 deficiency syndrome 1 1 SLC2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 99 Chromosome 17q23.1-q23.2 duplication syndrome Coxopodopatellar syndrome 1 1 TBX4 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 27 Chromosome 1q deletion syndrome Chromosome 1q43-q44 deletion syndrome 1 1 ZBTB18 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Chromosome 22q11.2 deletion syndrome interstitial lung disease due to ABCA3 deficiency 1 1 ABCA3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Chromosome 22q11.2 microduplication syndrome Conotruncal anomaly face syndrome 1 0 TBX1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 290 Chromosome 6q24-q25 deletion syndrome congenital heart defects, multiple types, 2 1 1 TAB2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Chromosome 8p23.1 monosomy Congenital pulmonary valve atresia 1 0 GATA4 (1) 0.50000 1.00000 6.494e-5 2.317e-4 106 Chromosome 8p23.1 monosomy Testicular anomaly with congenital heart disease 1 1 GATA4 (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 106 Chromosome xq21 deletion syndrome Xq21 microdeletion syndrome 1 1 POU3F4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 244 Chromosome xq25 duplication syndrome Xq25 microduplication syndrome 1 1 STAG2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Chromosome xq26.3 duplication syndrome X-linked acrogigantism due to xq26 microduplication 1 1 GPR101 (3) 0.50000 1.00000 6.494e-5 2.317e-4 235 Chromosome xq27.3-q28 duplication syndrome fragile x syndrome 1 1 FMR1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Chronic infantile diarrhea due to guanylate cyclase 2c overactivity Duodenal atresia 1 1 GUCY2C (2) 0.50000 1.00000 6.494e-5 2.317e-4 275 Chronic pain Primary erythromelalgia 1 1 SCN9A (2) 0.50000 1.00000 6.494e-5 2.317e-4 171 Chung-jansen syndrome Developmental delay with intellectual disability and obesity 1 1 PHIP (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Chuvash erythrocytosis Erythrocytosis due to tissue hypoxemia 1 1 VHL (4) 0.50000 1.00000 6.494e-5 2.317e-4 403 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 2.317e-4 385 Ciliary dyskinesia with retinitis pigmentosa RPGR-related retinopathy 1 1 RPGR (4) 0.50000 1.00000 6.494e-5 2.317e-4 385 Cinca syndrome Infantile neurological cutaneous and articular syndrome 1 1 NLRP3 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Cirrhosis dystonia polycythemia hypermanganesemia syndrome Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 1 1 SLC30A10 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Ck syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 1 1 NSDHL (7) 0.50000 1.00000 6.494e-5 2.317e-4 398 Clapo syndrome Cloves syndrome 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Clapo syndrome Congenital intestinal duplication 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Clapo syndrome Congenital macrodactylia 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Clapo syndrome Congenital malformation syndromes involving early overgrowth 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Clapo syndrome Hemifacial myohyperplasia 1 1 PIK3CA (4) 0.50000 1.00000 6.494e-5 2.317e-4 53 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 2.317e-4 Cleft lip/palate with abnormal thumbs and microcephaly Roberts syndrome 1 1 ESCO2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Cleft lip/palate with abnormal thumbs and microcephaly Roberts-sc phocomelia syndrome 1 1 ESCO2 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 Cleft palate with ankyloglossia Cleft palate x-linked 1 1 TBX22 (6) 0.50000 1.00000 6.494e-5 2.317e-4 226 Cleft palate with ankyloglossia X-linked cleft palate and ankloglossia 1 1 TBX22 (6) 0.50000 1.00000 6.494e-5 2.317e-4 226 Cleft palate x-linked X-linked cleft palate and ankloglossia 1 1 TBX22 (3) 0.50000 1.00000 6.494e-5 2.317e-4 226 Cloves syndrome Congenital intestinal duplication 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Cloves syndrome Congenital macrodactylia 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Cloves syndrome Congenital malformation syndromes involving early overgrowth 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Cloves syndrome Hemifacial myohyperplasia 1 1 PIK3CA (4) 0.50000 1.00000 6.494e-5 2.317e-4 53 Coasy protein-associated neurodegeneration Coenzyme a synthase protein associated neurodegeneration 1 1 COASY (2) 0.50000 1.00000 6.494e-5 2.317e-4 Coats disease norrie disease 1 1 NDP (2) 0.50000 1.00000 6.494e-5 2.317e-4 Cobalamin metabolism disorder inborn disorder of cobalamin metabolism and transport 1 1 MMADHC (2) 0.50000 1.00000 6.494e-5 2.317e-4 Cocoon syndrome Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency 1 1 CHUK (3) 0.50000 1.00000 6.494e-5 2.317e-4 409 COG4-congenital disorder of glycosylation Saul-wilson syndrome 1 1 COG4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 COG4-congenital disorder of glycosylation microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 0 COG4 (1) 0.50000 1.00000 6.494e-5 2.317e-4 COL1A1-related Ehlers-Danlos syndrome Maternal hypertension 1 1 COL1A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 93 COL1A1-related Ehlers-Danlos syndrome Rhizomelia 1 1 COL1A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 93 COL1A2-related Ehlers-Danlos syndrome ehlers-danlos syndrome, cardiac valvular type 1 0 COL1A2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 COL1A2-related Ehlers-Danlos syndrome COL1A2-related osteogenesis imperfecta 1 0 COL1A2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 COL1A2-related osteogenesis imperfecta ehlers-danlos syndrome, cardiac valvular type 1 0 COL1A2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 COL2A1-related spondyloepiphyseal dysplasia Collagenopathy 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 15 COL2A1-related spondyloepiphyseal dysplasia Coxa plana 1 1 COL2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 15 COL2A1-related spondyloepiphyseal dysplasia Czech dysplasia 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 COL2A1-related spondyloepiphyseal dysplasia Dysspondyloenchondromatosis 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 COL2A1-related spondyloepiphyseal dysplasia kniest dysplasia 1 0 COL2A1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 15 COL4A1-related disorder Familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 COL4A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 33 COL4A1-related disorder Colpocephaly 1 1 COL4A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 33 COL4A1-related disorder Retinal arterial tortuosity 1 1 COL4A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 33 Cole disease Coronary medial sclerosis of infancy 1 1 ENPP1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 207 Cole disease hypopigmentation-punctate palmoplantar keratoderma syndrome 1 1 ENPP1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 207 Collagenopathy Coxa plana 1 1 COL2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 15 Collagenopathy Czech dysplasia 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 Collagenopathy Dysspondyloenchondromatosis 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 Collagenopathy kniest dysplasia 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 15 Collagenopathy spondyloperipheral dysplasia 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 419 Colpocephaly Familial hematuria-retinal arteriolar tortuosity-contractures syndrome 1 1 COL4A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 33 Colpocephaly Retinal arterial tortuosity 1 1 COL4A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 33 combined immunodeficiency due to RELA haploinsufficiency Mucocutaneous ulceration 1 1 RELA (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Combined malonic and methylmalonic acidemia Combined malonic and methylmalonic aciduria 1 1 ACSF3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 Combined psap deficiency Gaucher disease due to saposin C deficiency 1 1 PSAP (3) 0.50000 1.00000 6.494e-5 2.317e-4 114 Combined psap deficiency Krabbe disease due to saposin A deficiency 1 1 PSAP (3) 0.50000 1.00000 6.494e-5 2.317e-4 114 Common atrium Intellectual developmental disorder hypotonia behavioral 1 1 CDK8 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Compton-north congenital myopathy Congenital lethal myopathy 1 1 CNTN1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital alpha-2-antiplasmin deficiency Congenital plasmin inhibitor deficiency 1 1 SERPINF2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital analbuminemia Dysalbuminemic hyperthyroxinemia 1 1 ALB (4) 0.50000 1.00000 6.494e-5 2.317e-4 314 Congenital aortic valve atresia Congenital mitral valve atresia 1 0 FOXP1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 267 Congenital aortic valve atresia Intellectual developmental disorder language autism 1 1 FOXP1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 267 Congenital aphakia Congenital primary aphakia 1 1 FOXE3 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital benign spinal muscular atrophy Digital arthropathy-brachydactyly, familial 1 1 TRPV4 (4) 0.50000 1.00000 6.494e-5 2.317e-4 218 Congenital benign spinal muscular atrophy Parastremmatic dwarfism 1 1 TRPV4 (6) 0.50000 1.00000 6.494e-5 2.317e-4 218 Congenital benign spinal muscular atrophy Scapuloperoneal spinal muscular atrophy 1 1 TRPV4 (5) 0.50000 1.00000 6.494e-5 2.317e-4 218 Congenital benign spinal muscular atrophy TRPV4-related bone disorder 1 1 TRPV4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 218 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 2.317e-4 Congenital cornea plana Congenital malformation of cornea 1 1 KERA (2) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital cornea plana Cornea plana 1 1 KERA (5) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital digestive system anomaly Medullary thyroid cancer 1 1 RET (2) 0.50000 1.00000 6.494e-5 2.317e-4 161 Congenital digestive system anomaly multiple endocrine neoplasia type 2B 1 1 RET (2) 0.50000 1.00000 6.494e-5 2.317e-4 161 Congenital digestive system anomaly multiple endocrine neoplasia type 2A 1 1 RET (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 Congenital factor ii deficiency Congenital prothrombin deficiency 1 1 F2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 408 Congenital factor ii deficiency thrombophilia due to thrombin defect 1 1 F2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 408 Congenital factor v deficiency East texas bleeding disorder 1 1 F5 (5) 0.50000 1.00000 6.494e-5 2.317e-4 84 Congenital factor v deficiency thrombophilia due to activated protein c resistance 1 1 F5 (4) 0.50000 1.00000 6.494e-5 2.317e-4 84 Congenital factor vii deficiency Factor vii deficiency 1 1 F7 (8) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital factor x deficiency Factor x deficiency 1 1 F10 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital factor xi deficiency Factor xi deficiency 1 1 F11 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital factor xii deficiency Factor xii deficiency 1 1 F12 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital folate absorption defect Malabsorption syndrome 1 1 SLC46A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 428 Congenital generalized hypercontractile muscle stiffness syndrome TPM3-related myopathy 1 1 TPM3 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital glucokinase-related hyperinsulinism hyperinsulinism due to glucokinase deficiency 1 1 GCK (2) 0.50000 1.00000 6.494e-5 2.317e-4 congenital heart defects, multiple types, 7 lymphatic malformation 1 1 0 FLT4 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital high-molecular-weight kininogen deficiency Hyperesthesia 1 1 KNG1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital hypoplasia of aortic arch Periportal fibrosis 1 0 PKHD1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 74 Congenital hypoplasia of clavicle Microstomia 1 0 LEMD2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital hypoplasia of clavicle Wormian bones-micrognathia-abnormal dentition-progeroid syndrome 1 1 LEMD2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital hypoplasia of pancreas pancreatic agenesis 1 1 1 PDX1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital hypothalamic hamartoma syndrome Curry-jones syndrome 1 1 SMO (6) 0.50000 1.00000 6.494e-5 2.317e-4 297 Congenital hypothalamic hamartoma syndrome Winter shortland temple syndrome 1 1 SMO (3) 0.50000 1.00000 6.494e-5 2.317e-4 297 Congenital hypothalamic hamartoma syndrome mosaic SMO syndrome 1 1 SMO (2) 0.50000 1.00000 6.494e-5 2.317e-4 297 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies Dentatorubral pallidoluysian atrophy 1 1 ATN1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital hypotrichosis with juvenile macular dystrophy EEM syndrome 1 1 CDH3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Erythrokeratodermia with ataxia 1 1 ELOVL4 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital idiopathic intestinal pseudoobstruction Otopalatodigital spectrum disorder 1 1 FLNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 42 Congenital idiopathic intestinal pseudoobstruction Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.50000 1.00000 6.494e-5 2.317e-4 42 Congenital idiopathic intestinal pseudoobstruction X-linked ehlers-danlos syndrome 1 1 FLNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 42 Congenital idiopathic intestinal pseudoobstruction X-linked keloid scarring syndrome 1 1 FLNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 42 Congenital intestinal duplication Congenital macrodactylia 1 1 PIK3CA (2) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital intestinal duplication Congenital malformation syndromes involving early overgrowth 1 0 PIK3CA (1) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital intestinal duplication Hemifacial myohyperplasia 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital macrodactylia Congenital malformation syndromes involving early overgrowth 1 1 PIK3CA (2) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital macrodactylia Hemifacial myohyperplasia 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Congenital malformation of cornea Cornea plana 1 1 KERA (5) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital malformation syndromes involving early overgrowth Hemifacial myohyperplasia 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital merosin-deficient muscular dystrophy LAMA2-related muscular dystrophy 1 1 LAMA2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Congenital methemoglobinemia Cytochrome-b5 reductase deficiency 1 1 CYB5R3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 429 Other specified diabetes mellitus with unspecified complications Wolfram-like syndrome 1 1 WFS1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 Otodental dysplasia Otodental syndrome 1 1 FGF3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 278 Otopalatodigital spectrum disorder Terminal osseous dysplasia with pigmentary defects 1 1 FLNA (6) 0.50000 1.00000 6.494e-5 2.317e-4 42 Otopalatodigital spectrum disorder X-linked ehlers-danlos syndrome 1 1 FLNA (4) 0.50000 1.00000 6.494e-5 2.317e-4 42 Otopalatodigital spectrum disorder X-linked keloid scarring syndrome 1 1 FLNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 42 Panniculitis Thiamine deficiency 1 1 SERPINA1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 236 Parastremmatic dwarfism Scapuloperoneal spinal muscular atrophy 1 1 TRPV4 (7) 0.50000 1.00000 6.494e-5 2.317e-4 218 Parastremmatic dwarfism TRPV4-related bone disorder 1 1 TRPV4 (6) 0.50000 1.00000 6.494e-5 2.317e-4 218 Parathyroid carcinoma Parathyroid neoplasm 1 1 CDC73 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Paris-trousseau thrombocytopenia Peripheral primitive neuroectodermal tumor 1 1 FLI1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Parkinsonism with cognitive impairment Waisman syndrome 1 1 RAB39B (3) 0.50000 1.00000 6.494e-5 2.317e-4 Parkinsonism with spasticity, x-linked X-linked parkinsonism-spasticity syndrome 1 1 ATP6AP2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Partial corpus callosum agenesis, x-linked X-linked complicated corpus callosum dysgenesis 1 1 L1CAM (6) 0.50000 1.00000 6.494e-5 2.317e-4 277 Partial corpus callosum agenesis, x-linked X-linked complicated spastic paraplegia 1 1 L1CAM (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 277 Patent ductus venosus Ureteral neoplasms 1 1 AHR (2) 0.50000 1.00000 6.494e-5 2.317e-4 203 Patent ductus venosus Urinary bladder calculi 1 1 AHR (2) 0.50000 1.00000 6.494e-5 2.317e-4 203 Patent ductus venosus Urinary bladder stone 1 1 AHR (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Periventricular heterotopia with microcephaly, autosomal recessive Periventricular laminar heterotopia 1 1 ARFGEF2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Phenylketonuria Tetrahydrobiopterin-responsive phenylketonuria 1 1 PAH (5) 0.50000 1.00000 6.494e-5 2.317e-4 phosphoribosylpyrophosphate synthetase superactivity Prpp synthetase superactivity 1 1 PRPS1 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 253 phosphoribosylpyrophosphate synthetase superactivity PRPS1 deficiency disorder 1 0 PRPS1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 253 PIK3R1-related immunodeficiency and SHORT syndrome Short syndrome 1 1 PIK3R1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 376 platelet-type bleeding disorder 12 Sleep deprivation 1 1 PTGS1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 platelet-type bleeding disorder 17 Thrombasthenia-thrombocytopenia 1 1 GFI1B (3) 0.50000 1.00000 6.494e-5 2.317e-4 platelet-type bleeding disorder 20 Thrombocytopenia with platelet secretion defect 1 1 SLFN14 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Collagenopathy platyspondylic dysplasia, Torrance type 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 15 Coxa plana platyspondylic dysplasia, Torrance type 1 1 COL2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 15 Czech dysplasia platyspondylic dysplasia, Torrance type 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 Dysspondyloenchondromatosis platyspondylic dysplasia, Torrance type 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 kniest dysplasia platyspondylic dysplasia, Torrance type 1 0 COL2A1 (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 121 POLR3A-related disorder Wiedemann-rautenstrauch syndrome 1 1 POLR3A (4) 0.50000 1.00000 6.494e-5 2.317e-4 59 polycystic liver disease 4 with or without kidney cysts Worth syndrome 1 1 LRP5 (4) 0.50000 1.00000 6.494e-5 2.317e-4 123 Potassium-aggravated myotonia SCN4A-related myopathy, autosomal recessive 1 1 SCN4A (3) 0.50000 1.00000 6.494e-5 2.317e-4 170 Preaxial polydactyly with upper back hypertrichosis Skeletal system disorder 1 1 SHH (2) 0.50000 1.00000 6.494e-5 2.317e-4 230 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome sinoatrial node dysfunction and deafness 1 1 CACNA1D (3) 0.50000 1.00000 6.494e-5 2.317e-4 116 Primary hypomagnesemia with hypocalciuria renal hypomagnesemia 2 1 1 FXYD2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Progressive contractures limb-girdle weakness muscle dystrophy syndrome tibial muscular dystrophy 1 1 TTN (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 157 PROM1-related dominant retinopathy PROM1-related recessive retinopathy 1 0 PROM1 (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 253 Prpp synthetase superactivity PRPS1 deficiency disorder 1 1 PRPS1 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 253 pseudohyperaldosteronism type 2 Pseudohypoaldosteronism 1 1 NR3C2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 pyridoxal phosphate-responsive seizures Pyridoxamine 5'-phosphate oxidase deficiency 1 1 PNPO (2) 0.50000 1.00000 6.494e-5 2.317e-4 Multisystem disorder TOR1AIP1-related myopathy 1 1 TOR1AIP1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 MYH7-related skeletal myopathy Myosin storage myopathy 1 1 MYH7 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 221 myopathy, myofibrillar, 9, with early respiratory failure tibial muscular dystrophy 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 221 Myotonia Potassium-aggravated myotonia 1 1 SCN4A (2) 0.50000 1.00000 6.494e-5 2.317e-4 170 Myotonia SCN4A-related myopathy, autosomal recessive 1 1 SCN4A (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Nebulin-related myopathy nemaline myopathy 2 1 1 NEB (2) 0.50000 1.00000 6.494e-5 2.317e-4 333 Neonatal anemia Perinatal hemolytic anemia 1 1 SPTB (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 213 Neonatal hyperbilirubinemia Serum bilirubin level 1 1 UGT1A1 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-4 neurodegenerative disease Regressive neurodevelopmental disorder dystonia seizures 1 1 IRF2BPL (2) 0.50000 1.00000 6.494e-5 2.317e-4 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 2.317e-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 2.317e-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 2.317e-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 2.317e-4 NOG-related symphalangism spectrum disorder Proximal symphalangism 1 1 NOG (2) 0.50000 1.00000 6.494e-5 2.317e-4 obsolete hereditary ATTR amyloidosis Senile systemic amyloidosis 1 1 TTR (2) 0.50000 1.00000 6.494e-5 2.317e-4 185 obsolete hereditary ATTR amyloidosis Transthyretin amyloid cardiomyopathy 1 1 TTR (2) 0.50000 1.00000 6.494e-5 2.317e-4 185 obsolete hereditary ATTR amyloidosis Wild-type transthyretin-related amyloidosis 1 1 TTR (2) 0.50000 1.00000 6.494e-5 2.317e-4 185 obsolete lethal restrictive dermopathy Tight skin contracture syndrome 1 1 ZMPSTE24 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Cooleys anemia obsolete sickle cell disease and related diseases 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia obsolete sickle cell disease and related diseases 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease obsolete sickle cell disease and related diseases 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia obsolete sickle cell disease and related diseases 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin d disease obsolete sickle cell disease and related diseases 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 occult macular dystrophy Ulnar-fibular ray defect and brachydactyly 1 1 RP1L1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 oculocutaneous albinism type 1 Temperature-sensitive oculocutaneous albinism 1 1 TYR (3) 0.50000 1.00000 6.494e-5 2.317e-4 Oropharyngeal dysphagia X-linked non progressive cerebellar ataxia 1 1 ATP2B3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 422 Osteofibrous dysplasia papillary renal cell carcinoma 1 1 MET (6) 0.50000 1.00000 6.494e-5 2.317e-4 Osteoglophonic dwarfism Osteoglophonic dysplasia 1 1 FGFR1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 139 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 2.317e-4 Telangiectasia macularis eruptiva perstans Testicular seminoma 1 1 KIT (2) 0.50000 1.00000 6.494e-5 2.317e-4 420 Telangiectasia macularis eruptiva perstans Urticaria pigmentosa 1 1 KIT (2) 0.50000 1.00000 6.494e-5 2.317e-4 420 TELO2-related intellectual disability-neurodevelopmental disorder You-hoover-fong syndrome 1 1 TELO2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Terminal osseous dysplasia with pigmentary defects X-linked ehlers-danlos syndrome 1 1 FLNA (6) 0.50000 1.00000 6.494e-5 2.317e-4 42 Terminal osseous dysplasia with pigmentary defects X-linked keloid scarring syndrome 1 1 FLNA (6) 0.50000 1.00000 6.494e-5 2.317e-4 42 Testicular seminoma Urticaria pigmentosa 1 0 KIT (1) 0.50000 1.00000 6.494e-5 2.317e-4 420 Cooleys anemia Thalassemia intermedia 1 0 HBB (1) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Thalassemia intermedia 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Thalassemia intermedia 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Thalassemia intermedia 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin d disease Thalassemia intermedia 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 tibial muscular dystrophy TTN-related myopathy, dominant-negative TTNsv 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 221 tooth agenesis, selective, 1 Tooth and nail syndrome 1 1 MSX1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 205 tooth agenesis, selective, 1 Witkop syndrome 1 1 MSX1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 205 Tooth and nail syndrome Witkop syndrome 1 1 MSX1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 205 Transthyretin amyloid cardiomyopathy Wild-type transthyretin-related amyloidosis 1 0 TTR (1) 0.50000 1.00000 6.494e-5 2.317e-4 185 Progressive contractures limb-girdle weakness muscle dystrophy syndrome TTN-related myopathy 1 1 TTN (4) 0.50000 1.00000 6.494e-5 2.317e-4 221 Early-onset myopathy with fatal cardiomyopathy TTN-related myopathy 1 1 TTN (4) 0.50000 1.00000 6.494e-5 2.317e-4 221 myopathy, myofibrillar, 9, with early respiratory failure TTN-related myopathy 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 221 tibial muscular dystrophy TTN-related myopathy 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 221 dilated cardiomyopathy 1G TTN-related myopathy 1 0 TTN (1) 0.50000 1.00000 6.494e-5 2.317e-4 221 TUBB4A-related neurologic disorder Whispering dysphonia 1 1 TUBB4A (3) 0.50000 1.00000 6.494e-5 2.317e-4 Ureteral neoplasms Urinary bladder calculi 1 0 AHR (1) 0.50000 1.00000 6.494e-5 2.317e-4 203 Ureteral neoplasms Urinary bladder stone 1 1 AHR (2) 0.50000 1.00000 6.494e-5 2.317e-4 203 Urinary bladder calculi Urinary bladder stone 1 1 AHR (2) 0.50000 1.00000 6.494e-5 2.317e-4 203 Urocanase deficiency Urocanate hydratase deficiency 1 1 UROC1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 Uruguay faciocardio-musculoskeletal syndrome X-linked scapuloperoneal muscular dystrophy 1 1 FHL1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 433 Van esch-o’driscoll syndrome X-linked reticulate pigmentary disorder 1 1 POLA1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Waardenburg syndrome type 4C Yemenite deaf-blind hypopigmentation syndrome 1 1 SOX10 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Wieacker syndrome Wieacker-wolff syndrome 1 1 ZC4H2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 X-linked agammaglobulinemia X-linked hypogammaglobulinemia 1 1 BTK (3) 0.50000 1.00000 6.494e-5 2.317e-4 406 X-linked cerebral cerebellar coloboma syndrome X-linked optic atrophy 1 0 WDR45 (1) 0.50000 1.00000 6.494e-5 2.317e-4 412 X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia 1 1 L1CAM (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 277 X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia 1 1 PHEX (3) 0.50000 1.00000 6.494e-5 2.317e-4 X-linked ehlers-danlos syndrome X-linked keloid scarring syndrome 1 1 FLNA (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-4 X-linked lissencephaly X-linked spasticity-intellectual disability-epilepsy syndrome 1 1 ARX (5) 0.50000 1.00000 6.494e-5 2.317e-4 255 X-linked severe congenital neutropenia X-linked thrombocytopenia 1 1 WAS (4) 0.50000 1.00000 6.494e-5 2.317e-4 X-linked spondyloepimetaphyseal dysplasia X-linked thoracic aortic aneurysm 1 1 BGN (3) 0.50000 1.00000 6.494e-5 2.317e-4 Xerosis with immune and pulmonary dysfunction syndrome Xgip syndrome 1 1 DBR1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 greig cephalopolysyndactyly syndrome Tibial hemimelia 1 1 GLI3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 192 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 2.317e-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 2.317e-4 GUCY2D-related dominant retinopathy GUCY2D-related recessive retinopathy 1 0 GUCY2D (1) 0.50000 1.00000 6.494e-5 2.317e-4 69 hand-foot-genital syndrome Uterine bilocularis 1 1 HOXA13 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Hartsfield-Bixler-Demyer syndrome Osteoglophonic dwarfism 1 1 FGFR1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 139 Hartsfield-Bixler-Demyer syndrome Osteoglophonic dysplasia 1 1 FGFR1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 139 hearing loss, autosomal recessive 119 Sensorineural hearing loss-spastic quadriplegia–intellectual disability 1 1 AFG2B (3) 0.50000 1.00000 6.494e-5 2.317e-4 Hecht syndrome Trismus-pseudocamptodactyly syndrome 1 1 MYH8 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Hemihyperplasia silver-russell syndrome 3 1 1 IGF2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Clapo syndrome Hemihyperplasia multiple lipomatosis syndrome 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Cloves syndrome Hemihyperplasia multiple lipomatosis syndrome 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital intestinal duplication Hemihyperplasia multiple lipomatosis syndrome 1 1 PIK3CA (2) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital macrodactylia Hemihyperplasia multiple lipomatosis syndrome 1 1 PIK3CA (3) 0.50000 1.00000 6.494e-5 2.317e-4 53 Congenital malformation syndromes involving early overgrowth Hemihyperplasia multiple lipomatosis syndrome 1 1 PIK3CA (2) 0.50000 1.00000 6.494e-5 2.317e-4 53 hemochromatosis type 5 neurodegeneration with brain iron accumulation 9 1 0 FTH1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 415 Hemoglobin c beta thalassemia Hemoglobin c disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Hemoglobin d disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Hemoglobin e beta thalassemia 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Hemoglobin d disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Hemoglobin e beta thalassemia 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin c-thalassemia disease 1 0 HBB (1) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobin c-thalassemia disease 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Hemoglobin c-thalassemia disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Hemoglobin c-thalassemia disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c-thalassemia disease Hemoglobin d disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin d disease Hemoglobin e beta thalassemia 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin sc disease 1 0 HBB (1) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobin sc disease 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Hemoglobin sc disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Hemoglobin sc disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin d disease Hemoglobin sc disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin sd disease 1 0 HBB (1) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobin sd disease 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Hemoglobin sd disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Hemoglobin sd disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin d disease Hemoglobin sd disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobin se disease 1 0 HBB (1) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobin se disease 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Hemoglobin se disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Hemoglobin se disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin d disease Hemoglobin se disease 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Cooleys anemia Hemoglobinopathy 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia Hemoglobinopathy 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c disease Hemoglobinopathy 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin c beta thalassemia Hemoglobinopathy 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemoglobin d disease Hemoglobinopathy 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 Hemophilia b carriers thrombophilia, X-linked, due to factor 9 defect 1 1 F9 (3) 0.50000 1.00000 6.494e-5 2.317e-4 hereditary hyperferritinemia with congenital cataracts neuroferritinopathy 1 0 FTL (1) 0.50000 1.00000 6.494e-5 2.317e-4 hermansky-pudlak syndrome 10 Ocular albinism with sensorineural deafness 1 1 AP3D1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 432 heyn-sproul-jackson syndrome Microcephalic dwarfism 1 1 DNMT3A (2) 0.50000 1.00000 6.494e-5 2.317e-4 338 heyn-sproul-jackson syndrome Tatton-Brown-Rahman overgrowth syndrome 1 0 DNMT3A (1) 0.50000 1.00000 6.494e-5 2.317e-4 338 Hmg-coa lyase deficiency Hydroxymethylglutaryl-coa lyase deficiency 1 1 HMGCL (4) 0.50000 1.00000 6.494e-5 2.317e-4 holoprosencephaly 3 Preaxial polydactyly with upper back hypertrichosis 1 1 SHH (3) 0.50000 1.00000 6.494e-5 2.317e-4 230 holoprosencephaly 3 Skeletal system disorder 1 1 SHH (2) 0.50000 1.00000 6.494e-5 2.317e-4 230 homocystinuria due to methylene tetrahydrofolate reductase deficiency Microvascular angina 1 1 MTHFR (3) 0.50000 1.00000 6.494e-5 2.317e-4 60 Hyaluronoglucosaminidase deficiency mucopolysaccharidosis type 9 1 1 HYAL1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 hyper-IgE recurrent infection syndrome 1, autosomal dominant Hyper-ige syndrome 1 1 STAT3 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-4 Hyper-ige syndrome Lymphoproliferative disorder of natural killer cells 1 0 STAT3 (1) 0.50000 1.00000 6.494e-5 2.317e-4 167 Hyper-ige syndrome STAT3-related early-onset multisystem autoimmune disease 1 1 STAT3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 167 Hypergammaglobulinemia hypoproteinemia, hypercatabolic 1 1 B2M (3) 0.50000 1.00000 6.494e-5 2.317e-4 128 Hyperinflammatory lymphoproliferative immunodeficiency immunodeficiency 72 with autoinflammation 1 1 NCKAP1L (2) 0.50000 1.00000 6.494e-5 2.317e-4 hyperinsulinemic hypoglycemia with polycystic kidney disease PMM2-congenital disorder of glycosylation 1 0 PMM2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 hyperlysinemia Saccharopinuria 1 1 AASS (3) 0.50000 1.00000 6.494e-5 2.317e-4 hyperparathyroidism 2 with jaw tumors Parathyroid carcinoma 1 1 CDC73 (4) 0.50000 1.00000 6.494e-5 2.317e-4 hyperparathyroidism 2 with jaw tumors Parathyroid neoplasm 1 1 CDC73 (3) 0.50000 1.00000 6.494e-5 2.317e-4 hypertrichotic osteochondrodysplasia Cantu type Intellectual disability and myopathy syndrome 1 1 ABCC9 (5) 0.50000 1.00000 6.494e-5 2.317e-4 234 Achondroplasia hypochondroplasia 1 1 FGFR3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 130 Camptodactyly, tall stature, and hearing loss syndrome hypochondroplasia 1 1 FGFR3 (5) 0.50000 1.00000 6.494e-5 2.317e-4 130 Catshl syndrome hypochondroplasia 1 1 FGFR3 (3) 0.50000 1.00000 6.494e-5 2.317e-4 130 Crouzon syndrome with acanthosis nigricans hypochondroplasia 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 hypochondroplasia Muenke syndrome 1 1 FGFR3 (6) 0.50000 1.00000 6.494e-5 2.317e-4 130 hypomagnesemia, seizures, and intellectual disability 1 Tetany 1 1 CNNM2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 359 Hypophosphatasia Micromelia 1 1 ALPL (4) 0.50000 1.00000 6.494e-5 2.317e-4 388 RDH12-related dominant retinopathy RDH12-related recessive retinopathy 1 0 RDH12 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Reducing body myopathy Uruguay faciocardio-musculoskeletal syndrome 1 1 FHL1 (5) 0.50000 1.00000 6.494e-5 2.317e-4 433 Reducing body myopathy X-linked scapuloperoneal muscular dystrophy 1 1 FHL1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 433 regressive spondylometaphyseal dysplasia Reynolds syndrome 1 1 LBR (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 281 Respiratory distress with surfactant metabolism deficiency SFTPC-related interstitial lung disease 1 1 SFTPC (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 121 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Type i interferonopathy 1 1 TREX1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 159 Retinitis pigmentosa and erythrocytic microcytosis Sideroblastic anemia with b-cell immunodeficiency 1 1 TRNT1 (7) 0.50000 1.00000 6.494e-5 2.317e-4 Retinitis pigmentosa with choroidal involvement RPE65-related recessive retinopathy 1 1 RPE65 (5) 0.50000 1.00000 6.494e-5 2.317e-4 400 Retinitis pigmentosa with choroidal involvement RPE65-related dominant retinopathy 1 1 RPE65 (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 385 Revesz debuse syndrome Revesz syndrome 1 1 TINF2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 345 Reynolds syndrome Rhizomelic skeletal dysplasia with or without pelger-huet anomaly 1 1 LBR (4) 0.50000 1.00000 6.494e-5 2.317e-4 281 Rhabdomyoma Sacroiliitis 1 1 POMC (2) 0.50000 1.00000 6.494e-5 2.317e-4 101 Ribose 5-phosphate isomerase deficiency Ribose-5-phosphate isomerase deficiency 1 1 RPIA (6) 0.50000 1.00000 6.494e-5 2.317e-4 Richieri costa pereira syndrome Robin sequence with cleft mandible and limb anomalies 1 1 EIF4A3 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Rickets, x-linked hypophosphatemic X-linked dominant hypophosphatemic rickets 1 1 PHEX (3) 0.50000 1.00000 6.494e-5 2.317e-4 Rickets, x-linked hypophosphatemic X-linked hypophosphatemia 1 1 PHEX (2) 0.50000 1.00000 6.494e-5 2.317e-4 Right bundle branch block Right cardiac ventricular dilatation 1 0 BMPR2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Roberts syndrome Roberts-sc phocomelia syndrome 1 1 ESCO2 (7) 0.50000 1.00000 6.494e-5 2.317e-4 RP1-related dominant retinopathy RP1-related recessive retinopathy 1 0 RP1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 RP2-related retinopathy X-linked retinitis pigmentosa 1 1 RP2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 RPE65-related dominant retinopathy RPE65-related recessive retinopathy 1 0 RPE65 (1) 0.50000 1.00000 6.494e-5 2.317e-4 400 Rudiger syndrome Sweat gland neoplasm 1 1 TP63 (2) 0.50000 1.00000 6.494e-5 2.317e-4 30 Sacroiliac arthritis Sacroiliac joint synovitis 1 0 RELN (1) 0.50000 1.00000 6.494e-5 2.317e-4 209 Sarcosine dehydrogenase deficiency Sarcosinemia 1 1 SARDH (6) 0.50000 1.00000 6.494e-5 2.317e-4 Scapuloperoneal spinal muscular atrophy TRPV4-related bone disorder 1 1 TRPV4 (6) 0.50000 1.00000 6.494e-5 2.317e-4 218 Senile systemic amyloidosis Transthyretin amyloid cardiomyopathy 1 0 TTR (1) 0.50000 1.00000 6.494e-5 2.317e-4 185 Senile systemic amyloidosis Wild-type transthyretin-related amyloidosis 1 0 TTR (1) 0.50000 1.00000 6.494e-5 2.317e-4 185 Serrated polyposis sessile serrated polyposis cancer syndrome 1 1 RNF43 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Achondroplasia severe achondroplasia-developmental delay-acanthosis nigricans syndrome 1 1 FGFR3 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 130 Catshl syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome 1 1 FGFR3 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 130 Muenke syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome 1 1 FGFR3 (6) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 spastic paraplegia, intellectual disability, nystagmus, and obesity Ventriculomegaly with arthrogryposis 1 1 KIDINS220 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Splenic neoplasms Woolly hair nevus 1 1 HRAS (2) 0.50000 1.00000 6.494e-5 2.317e-4 17 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Warburg-cinotti syndrome 1 1 DDR2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Collagenopathy Stickler syndrome type 1 1 1 COL2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 15 Coxa plana Stickler syndrome type 1 1 1 COL2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 15 Czech dysplasia Stickler syndrome type 1 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 Dysspondyloenchondromatosis Stickler syndrome type 1 1 1 COL2A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 15 kniest dysplasia Stickler syndrome type 1 1 0 COL2A1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 15 Sweeney-cox syndrome TWIST1-related craniosynostosis 1 1 TWIST1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 250 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 2.317e-4 229 Epilepsy with myoclonic absence Glucose transporter type 1 deficiency syndrome 1 1 SLC2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 99 Epilepsy with myoclonic absence GLUT1 deficiency syndrome 1 1 SLC2A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 99 Erythrocyte galactose epimerase deficiency Erythrocyte udp-galactose-4-epimerase deficiency 1 1 GALE (2) 0.50000 1.00000 6.494e-5 2.317e-4 358 Erythrocyte galactose epimerase deficiency Udp-glucose 4-epimerase deficiency 1 1 GALE (3) 0.50000 1.00000 6.494e-5 2.317e-4 358 Erythrocyte galactose epimerase deficiency galactose epimerase deficiency 1 1 GALE (2) 0.50000 1.00000 6.494e-5 2.317e-4 358 Erythrocyte lactate transporter defect Fatty acid and ketone body metabolism disorder 1 1 SLC16A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Erythrocyte lactate transporter defect Fatty acid oxidation and ketone body metabolism disorder 1 1 SLC16A1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 Erythrocyte udp-galactose-4-epimerase deficiency Udp-glucose 4-epimerase deficiency 1 1 GALE (2) 0.50000 1.00000 6.494e-5 2.317e-4 358 Erythrocyte udp-galactose-4-epimerase deficiency galactose epimerase deficiency 1 1 GALE (2) 0.50000 1.00000 6.494e-5 2.317e-4 358 Cooleys anemia erythrocytosis, familial, 6 1 1 HBB (2) 0.50000 1.00000 6.494e-5 2.317e-4 18 Dominant beta-thalassemia erythrocytosis, familial, 6 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 erythrocytosis, familial, 6 Hemoglobin c disease 1 1 HBB (4) 0.50000 1.00000 6.494e-5 2.317e-4 18 erythrocytosis, familial, 6 Hemoglobin c beta thalassemia 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 erythrocytosis, familial, 6 Hemoglobin d disease 1 1 HBB (3) 0.50000 1.00000 6.494e-5 2.317e-4 18 exostoses, multiple, type 2 Seizures, scoliosis, and macrocephaly/microcephaly syndrome 1 1 EXT2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 108 Eye manifestations Partial epilepsy with variable foci 1 1 APP (2) 0.50000 1.00000 6.494e-5 2.317e-4 151 Eye pain Rhabdomyoma 1 0 POMC (1) 0.50000 1.00000 6.494e-5 2.317e-4 101 Eye pain Sacroiliitis 1 1 POMC (2) 0.50000 1.00000 6.494e-5 2.317e-4 101 Factor h deficiency Genetic hemolytic uremic syndrome 1 1 CFH (2) 0.50000 1.00000 6.494e-5 2.317e-4 32 FAM111A-related skeletal dysplasia Osteocraniostenosis 1 1 FAM111A (4) 0.50000 1.00000 6.494e-5 2.317e-4 Familial adenomatous polyposis gastric adenocarcinoma and proximal polyposis of the stomach 1 1 APC (2) 0.50000 1.00000 6.494e-5 2.317e-4 37 Familial cylindromatosis Multiple familial trichoepithelioma 1 1 CYLD (4) 0.50000 1.00000 6.494e-5 2.317e-4 Familial cylindromatosis frontotemporal dementia and/or amyotrophic lateral sclerosis 8 1 1 CYLD (2) 0.50000 1.00000 6.494e-5 2.317e-4 Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Retinal arterial tortuosity 1 1 COL4A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 33 Familial hypoaldosteronism Hyperreninemic hypoaldosteronism 1 1 CYP11B2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 177 Familial infantile convulsions with paroxysmal choreoathetosis Paroxysmal dystonia 1 1 PRRT2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 85 Familial infantile convulsions with paroxysmal choreoathetosis infantile convulsions and choreoathetosis 1 1 PRRT2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 85 familial ovarian cancer fanconi anemia complementation group j 1 0 BRIP1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 fanconi anemia complementation group b Vacterl-hydrocephalus syndrome 1 1 FANCB (2) 0.50000 1.00000 6.494e-5 2.317e-4 fanconi anemia complementation group n PALB2-related cancer predisposition 1 0 PALB2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 fanconi anemia complementation group o RAD51C-related cancer predisposition 1 0 RAD51C (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 fatty acyl-CoA reductase 1 deficiency fatty acyl-CoA reductase 1 upregulation 1 0 FAR1 (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 FLVCR1-related retinopathy with or without ataxia Retinopathy-sensory neuropathy syndrome 1 1 FLVCR1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 focal segmental glomerulosclerosis 3, susceptibility to inherited focal segmental glomerulosclerosis 1 0 CD2AP (1) 0.50000 1.00000 6.494e-5 2.317e-4 focal segmental glomerulosclerosis 7 Papillorenal syndrome 1 1 PAX2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 focal segmental glomerulosclerosis 9 Ventriculomegaly with cystic kidney disease 1 1 CRB2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Multiple familial trichoepithelioma 1 1 CYLD (5) 0.50000 1.00000 6.494e-5 2.317e-4 galactose epimerase deficiency Udp-glucose 4-epimerase deficiency 1 1 GALE (3) 0.50000 1.00000 6.494e-5 2.317e-4 358 Gallbladder agenesis megalencephaly-polydactyly syndrome 1 1 MYCN (2) 0.50000 1.00000 6.494e-5 2.317e-4 gapo syndrome Growth retardation, alopecia, pseudoanodontia and optic atrophy 1 1 ANTXR1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 GATA1-Related X-Linked Cytopenia Thrombocytopenia with dyserythropoietic anemia 1 1 GATA1 (8) 0.50000 1.00000 6.494e-5 2.317e-4 132 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 2.317e-4 106 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 2.317e-4 114 Genetic hyperferritinemia without iron overload hereditary hyperferritinemia with congenital cataracts 1 1 FTL (3) 0.50000 1.00000 6.494e-5 2.317e-4 Genetic hyperferritinemia without iron overload neuroferritinopathy 1 1 FTL (3) 0.50000 1.00000 6.494e-5 2.317e-4 Genetic renal tubular disease Hypokalemia-hypomagnesemia 1 1 SLC12A3 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Giant cell tumor of tendon sheath Renal dysplasia 1 1 HNF1B (2) 0.50000 1.00000 6.494e-5 2.317e-4 145 Giant cell tumor of tendon sheath Multicystic dysplastic kidney 1 1 HNF1B (4) 0.50000 1.00000 6.494e-5 2.317e-4 145 Glass syndrome Satb2 associated syndrome 1 1 SATB2 (4) 0.50000 1.00000 6.494e-5 2.317e-4 197 glaucoma 3, primary congenital, d Microspherophakia 1 1 LTBP2 (6) 0.50000 1.00000 6.494e-5 2.317e-4 glomerulopathy with fibronectin deposits 2 spondylometaphyseal dysplasia, 'corner fracture' type 1 0 FN1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 Glucose transporter type 1 deficiency syndrome GLUT1 deficiency syndrome 1 1 SLC2A1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Glycerol kinase deficiency inborn glycerol kinase deficiency 1 1 GK (2) 0.50000 1.00000 6.494e-5 2.317e-4 glycogen storage disease II Glycoprotein storage disease 1 1 GAA (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Glycoprotein vi deficiency platelet-type bleeding disorder 11 1 1 GP6 (2) 0.50000 1.00000 6.494e-5 2.317e-4 414 GM3 synthase deficiency Salt and pepper developmental regression syndrome 1 1 ST3GAL5 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Granulomatous inflammatory arthritis-dermatitis-uveitis, familial Yao syndrome 1 1 NOD2 (3) 0.50000 1.00000 6.494e-5 2.317e-4 401 greenberg dysplasia Reynolds syndrome 1 1 LBR (5) 0.50000 1.00000 6.494e-5 2.317e-4 281 greenberg dysplasia Rhizomelic skeletal dysplasia with or without pelger-huet anomaly 1 1 LBR (2) 0.50000 1.00000 6.494e-5 2.317e-4 281 greenberg dysplasia regressive spondylometaphyseal dysplasia 1 0 LBR (1) 0.50000 1.00000 6.494e-5 2.317e-4 281 IKBKG-related immunodeficiency with or without ectodermal dysplasia incontinentia pigmenti 1 0 IKBKG (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 335 immunodeficiency 14 immunodeficiency 14b, autosomal recessive 1 0 PIK3CD (1) 0.50000 1.00000 6.494e-5 2.317e-4 375 immunodeficiency 15a severe combined immunodeficiency due to IKK2 deficiency 1 0 IKBKB (1) 0.50000 1.00000 6.494e-5 2.317e-4 immunodeficiency 31b Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 1 0 STAT1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 immunodeficiency 37 Mucosa-associated lymphoma 1 1 BCL10 (2) 0.50000 1.00000 6.494e-5 2.317e-4 immunodeficiency 61 X-linked common variable immunodeficiency phenotype due to sh3kbp1 deficiency 1 1 SH3KBP1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia neutrophil immunodeficiency syndrome 1 0 RAC2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia neutrophil immunodeficiency syndrome 1 0 RAC2 (1) 0.50000 1.00000 6.494e-5 2.317e-4 immunodeficiency due to CD25 deficiency Interleukin 2 receptor deficiency 1 1 IL2RA (3) 0.50000 1.00000 6.494e-5 2.317e-4 416 IMPG1-related dominant retinopathy IMPG1-related recessive retinopathy 1 0 IMPG1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 310 infantile convulsions and choreoathetosis Paroxysmal dystonia 1 1 PRRT2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 85 inflammatory bowel disease, immunodeficiency, and encephalopathy Peritoneal fibrosis 1 1 TGFB1 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 274 Insulin resistant diabetes mellitus with acanthosis nigricans Leprechaunism syndrome 1 0 INSR (1) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 274 insulin-resistance syndrome type A Type a insulin resistance syndrome 1 1 INSR (2) 0.50000 1.00000 6.494e-5 2.317e-4 274 insulin-resistance syndrome type A Leprechaunism syndrome 1 1 INSR (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 274 Insulin-resistant diabetes mellitus with acanthosis nigricans Leprechaunism syndrome 1 1 INSR (3) 0.50000 1.00000 6.494e-5 2.317e-4 274 Intellectual developmental disorder cataracts myopathy primrose syndrome 1 1 ZBTB20 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Intellectual developmental disorder dysmorphic cardiac short stature Verheij syndrome 1 1 PUF60 (4) 0.50000 1.00000 6.494e-5 2.317e-4 370 Intellectual developmental disorder dysmorphic skeletal Intellectual developmental disorder dysmorphic speech skeletal 1 1 CNOT2 (5) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 Intellectual developmental disorder expressive speech dysmorphic Schinzel-Giedion syndrome 1 1 SETBP1 (3) 0.50000 1.00000 6.494e-5 2.317e-4 341 Intellectual developmental disorder growth behavioral Intellectual developmental disorder macrocephaly hypotonia behavioral 1 1 PPP2R5D (2) 0.50000 1.00000 6.494e-5 2.317e-4 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 2.317e-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 2.317e-4 Intellectual developmental disorder short stature facial Intellectual developmental disorder short stature facial speech 1 1 FBXL3 (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 166 Intestinal aganglionosis Waardenburg syndrome type 4A 1 1 EDNRB (2) 0.50000 1.00000 6.494e-5 2.317e-4 IRF6-related condition Popliteal pterygium syndrome 1 1 IRF6 (5) 0.50000 1.00000 6.494e-5 2.317e-4 joubert syndrome 1 MORM syndrome 1 0 INPP5E (1) 0.50000 1.00000 6.494e-5 2.317e-4 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome 1 1 SMAD4 (2) 0.50000 1.00000 6.494e-5 2.317e-4 KAT6B-related multiple congenital anomalies syndrome Simpson syndrome 1 1 KAT6B (3) 0.50000 1.00000 6.494e-5 2.317e-4 KCNH1 associated disorder Temple-baraitser syndrome 1 1 KCNH1 (6) 0.50000 1.00000 6.494e-5 2.317e-4 Kennedy disease Partial androgen insensitivity syndrome 1 1 AR (4) 0.50000 1.00000 6.494e-5 2.317e-4 204 Kenny caffey syndrome Sanjad-sakati syndrome 1 1 TBCE (3) 0.50000 1.00000 6.494e-5 2.317e-4 222 Kindler epidermolysis bullosa kindler syndrome 1 1 FERMT1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 kniest dysplasia spondyloperipheral dysplasia 1 0 COL2A1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 15 L1 syndrome Partial corpus callosum agenesis, x-linked 1 1 L1CAM (4) 0.50000 1.00000 6.494e-5 2.317e-4 277 L1 syndrome Masa syndrome 1 1 L1CAM (7) 0.50000 1.00000 6.494e-5 2.317e-4 277 L1 syndrome X-linked complicated corpus callosum dysgenesis 1 1 L1CAM (4) 0.50000 1.00000 6.494e-5 2.317e-4 277 L1 syndrome X-linked complicated spastic paraplegia 1 1 L1CAM (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 277 Lafora body disease Progressive myoclonic epilepsy with intracellular inclusions 1 1 PRDM8 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Leprechaunism syndrome Type a insulin resistance syndrome 1 1 INSR (2) 0.50000 1.00000 6.494e-5 2.317e-4 274 lesch-nyhan syndrome Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 1 1 HPRT1 (2) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-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 2.317e-4 Limb-mammary syndrome Rudiger syndrome 1 1 TP63 (5) 0.50000 1.00000 6.494e-5 2.317e-4 30 Limb-mammary syndrome Sweat gland neoplasm 1 1 TP63 (5) 0.50000 1.00000 6.494e-5 2.317e-4 30 Lipoatrophic diabetes mellitus Severe lipodystrophic laminopathy 1 1 LMNA (3) 0.50000 1.00000 6.494e-5 2.317e-4 83 Lipoatrophic diabetes mellitus Malouf syndrome 1 0 LMNA (1) 0.50000 1.00000 6.494e-5 2.317e-4 83 LRP5-related exudative vitreoretinopathy Worth syndrome 1 1 LRP5 (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-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 2.317e-4 167 lysosomal acid lipase deficiency Wolman disease 1 1 LIPA (6) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 407 Malan syndrome marshall-smith syndrome 1 1 NFIX (6) 0.50000 1.00000 6.494e-5 2.317e-4 287 Malouf syndrome Severe lipodystrophic laminopathy 1 1 LMNA (3) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 356 Masa syndrome Partial corpus callosum agenesis, x-linked 1 1 L1CAM (6) 0.50000 1.00000 6.494e-5 2.317e-4 277 Masa syndrome X-linked complicated corpus callosum dysgenesis 1 1 L1CAM (6) 0.50000 1.00000 6.494e-5 2.317e-4 277 Masa syndrome X-linked complicated spastic paraplegia 1 1 L1CAM (7) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 277 Mast cell leukemia Telangiectasia macularis eruptiva perstans 1 1 KIT (2) 0.50000 1.00000 6.494e-5 2.317e-4 420 Mast cell leukemia Testicular seminoma 1 0 KIT (1) 0.50000 1.00000 6.494e-5 2.317e-4 420 Mast cell leukemia Urticaria pigmentosa 1 0 KIT (1) 0.50000 1.00000 6.494e-5 2.317e-4 420 Maternal hypertension Rhizomelia 1 0 COL1A1 (1) 0.50000 1.00000 6.494e-5 2.317e-4 93 maternal riboflavin deficiency Riboflavin deficiency 1 1 SLC52A1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 Medullary thyroid cancer multiple endocrine neoplasia type 2B 1 1 RET (2) 0.50000 1.00000 6.494e-5 2.317e-4 161 Medullary thyroid cancer multiple endocrine neoplasia type 2A 1 1 RET (2) 0.50000 1.00000 6.494e-5 2.317e-4 161 meester-loeys syndrome X-linked thoracic aortic aneurysm 1 1 BGN (2) 0.50000 1.00000 6.494e-5 2.317e-4 meester-loeys syndrome X-linked spondyloepimetaphyseal dysplasia 1 1 BGN (4) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-4 melanoma-pancreatic cancer syndrome Trisomy 1 1 CDKN2A (2) 0.50000 1.00000 6.494e-5 2.317e-4 45 mend syndrome X-linked dominant chondrodysplasia punctata 1 1 EBP (2) 0.50000 1.00000 6.494e-5 2.317e-4 menkes disease X-linked distal spinal muscular atrophy 1 1 ATP7A (4) 0.50000 1.00000 6.494e-5 2.317e-4 402 Metaphyseal chondrodysplasia with retinitis pigmentosa Retinitis pigmentosa with or without skeletal anomalies 1 1 CWC27 (6) 0.50000 1.00000 6.494e-5 2.317e-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 2.317e-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 2.317e-4 Methylmalonyl-coa mutase deficiency Partial deficiency of methylmalonyl-coenzyme a mutase 1 0 MMUT (1) 0.50000 1.00000 6.494e-5 2.317e-4 Microcephalic dwarfism Tatton-Brown-Rahman overgrowth syndrome 1 1 DNMT3A (2) 0.50000 1.00000 6.494e-5 2.317e-4 338 microcephalic osteodysplastic dysplasia, Saul-Wilson type Saul-wilson syndrome 1 1 COG4 (3) 0.50000 1.00000 6.494e-5 2.317e-4 microcephaly with lissencephaly and/or hydranencephaly Microhydranencephaly 1 1 NDE1 (4) 0.50000 1.00000 6.494e-5 2.317e-4 microphthalmia, syndromic 12 Orbital disease 1 1 RARB (2) 0.50000 1.00000 6.494e-5 2.317e-4 Microstomia Wormian bones-micrognathia-abnormal dentition-progeroid syndrome 1 1 LEMD2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Miles-carpenter syndrome Wieacker syndrome 1 1 ZC4H2 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Miles-carpenter syndrome Wieacker-wolff syndrome 1 1 ZC4H2 (5) 0.50000 1.00000 6.494e-5 2.317e-4 Minor epilepsy Nasal obstruction 1 1 NPY (2) 0.50000 1.00000 6.494e-5 2.317e-4 mosaic SMO syndrome Winter shortland temple syndrome 1 1 SMO (3) 0.50000 1.00000 6.494e-5 2.317e-4 297 Mucocutaneous venous malformations TEK-related primary glaucoma 1 1 TEK (2) 0.50000 1.00000 6.494e-5 2.317e-4 257 Mucoepithelial dysplasia Urban-schosser-spohr syndrome 1 1 SREBF1 (2) 0.50000 1.00000 6.494e-5 2.317e-4 Muenke syndrome Thanatophoric dysplasia 1 1 FGFR3 (7) 0.50000 1.00000 6.494e-5 2.317e-4 130 Multicystic dysplastic kidney Renal dysplasia 1 1 HNF1B (3) 0.50000 1.00000 6.494e-5 2.317e-4 145 multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2B 1 0 RET (1) 0.50000 1.00000 6.494e-5 2.317e-4 161 Multiple epiphyseal dysplasia with early-onset diabetes mellitus Wolcott-rallison syndrome 1 1 EIF2AK3 (5) 0.50000 1.00000 6.494e-5 2.317e-4 357 Paralysis Tremor 2 1 SCN4A (2), ATP7A (1) 0.07692 0.16667 5.813e-5 2.317e-4 Arrhythmogenic right ventricular dysplasia Myofibrillar myopathy 2 2 LDB3 (3), BAG3 (6) 0.07692 0.16667 5.813e-5 2.317e-4 3 Essential thrombocythemia Nephrosclerosis 2 2 TGFB1 (2), FGF2 (2) 0.07692 0.15385 5.954e-5 2.317e-4 Headache Hodgkin disease 2 0 CSF3 (1), IFNA2 (1) 0.07692 0.20000 5.136e-5 2.317e-4 inherited retinal dystrophy Nanophthalmos 2 2 CRB1 (2), C1QTNF5 (2) 0.07692 0.16667 5.813e-5 2.317e-4 Berylliosis Gaucher disease 2 2 ACE (2), TNF (2) 0.07692 0.20000 5.136e-5 2.317e-4 Gaucher disease Vascular system injury 2 2 ACE (2), TNF (2) 0.07692 0.20000 5.136e-5 2.317e-4 Cushing's disease Gliosarcoma 2 2 TP53 (2), PPARG (2) 0.07692 0.18182 5.537e-5 2.317e-4 Cystitis Tonic-clonic epilepsy 2 2 NGF (2), POMC (2) 0.07692 0.16667 5.813e-5 2.317e-4 Bicuspid aortic valve Neuropathy, ataxia, and retinitis pigmentosa 2 1 ATP6 (2), ATP8 (1) 0.07692 0.15385 5.954e-5 2.317e-4 26 Blindness Optic neuritis 2 1 EFEMP1 (2), AQP4 (1) 0.07692 0.15385 5.954e-5 2.317e-4 Bronchial hyperreactivity Congestive ophthalmopathy 2 2 ICAM1 (2), IL1RN (2) 0.07692 0.15385 5.954e-5 2.317e-4 Byzanthine arch palate Congenital epicanthus 2 0 TFAP2A (1), PTK2 (1) 0.07692 0.15385 5.954e-5 2.317e-4 Angle closure glaucoma Carotid artery stenosis 2 1 APOE (2), MTHFR (1) 0.07692 0.15385 5.954e-5 2.317e-4 Carcinogenesis Endometrial hyperplasia 2 2 KRAS (2), CDKN2A (2) 0.07407 0.20000 5.776e-5 2.317e-4 45 Clinodactyly Esotropia 2 0 ANKRD11 (1), FASN (1) 0.07407 0.20000 5.776e-5 2.317e-4 Gaucher disease Retinitis pigmentosa-deafness syndrome 2 1 PSAP (7), CDH23 (1) 0.07407 0.18182 6.273e-5 2.317e-4 Hypertensive heart disease Potassium deficiency 2 0 FGF5 (1), PRDM8 (1) 0.07407 0.20000 5.776e-5 2.317e-4 Dwarfism Seckel syndrome 2 2 TRAIP (5), PLK4 (4) 0.07407 0.20000 5.776e-5 2.317e-4 Prostatic intraepithelial neoplasia Substance-induced psychosis 2 0 ESR1 (1), GSTP1 (1) 0.07407 0.18182 6.273e-5 2.317e-4 Intervertebral disc disease Uremia 2 2 TGFB1 (2), SPARC (2) 0.07407 0.20000 5.776e-5 2.317e-4 289 Brain edema Down syndrome 2 2 S100B (2), MMP9 (2) 0.07143 0.20000 6.453e-5 2.317e-4 Anencephaly Dandy-walker syndrome 2 0 HYLS1 (1), PUS3 (1) 0.07143 0.22222 5.739e-5 2.317e-4 Bladder exstrophy progressive myoclonus epilepsy 2 2 GOSR2 (2), NUS1 (2) 0.06897 0.22222 6.341e-5 2.317e-4 Congenital impairment of spermatozoa motility Spermatogenic failure, x-linked 2 2 SSX1 (4), USP26 (3) 0.06667 0.25000 5.943e-5 2.317e-4 11 Anhedonia Dysthymic disorder 2 0 CRH (1), SLC6A4 (1) 0.06250 0.28571 5.728e-5 2.317e-4 Congenital muscular dystrophy due to dystroglycanopathy Hydrocephalus 2 1 CRPPA (2), POMGNT1 (1) 0.06250 0.28571 5.728e-5 2.317e-4 Exanthema Spondylosis 2 2 HLA-B (2), IL1RN (2) 0.05714 0.33333 5.478e-5 2.317e-4 Appendicitis Autoimmune hepatitis 3 2 F2 (1), IL10 (2), IFNG (2) 0.04545 0.10000 5.377e-5 2.317e-4 Night blindness, congenital stationary Retinal detachment 3 2 ABCA4 (1), RDH5 (2), RHO (3) 0.04348 0.12000 5.481e-5 2.317e-4 Cerebral palsy Interferonopathy 2 2 RNASEH2B (3), SAMHD1 (2) 0.04082 0.50000 5.219e-5 2.317e-4 Congenital cystic kidney disease Gastrointestinal stromal tumor 2 2 TMEM231 (2), B9D1 (2) 0.04000 0.50000 5.450e-5 2.317e-4 Antiphospholipid syndrome Ocular sarcoidosis 3 2 HLA-DQA1 (2), HLA-DQB1 (2), FRMD4A (1) 0.03947 0.15000 5.525e-5 2.317e-4 1 Galactokinase deficiency Ocular hypertension 2 2 NR3C1 (2), ITGB4 (2) 0.03846 0.50000 5.928e-5 2.317e-4 MHC class II deficiency Severe combined immunodeficiency 2 2 RFX5 (2), RFXANK (2) 0.03704 0.50000 6.426e-5 2.317e-4 Anodontia Otosclerosis 2 2 LTBP3 (2), IRX5 (2) 0.03704 0.50000 6.426e-5 2.317e-4 Ischemic stroke Moyamoya disease 4 2 MTHFR (2), MYRF (2), HLA-A (1), PHACTR1 (1) 0.03636 0.07843 5.168e-5 2.317e-4 Essential tremor Triple negative breast cancer 4 0 CCDC91 (1), ABHD8 (1), IL20RB (1), ANKLE1 (1) 0.03125 0.11765 5.936e-5 2.317e-4 Congenital disorder of glycosylation Glycosylphosphatidylinositol biosynthesis defect 3 3 PIGC (4), PIGW (3), PIGM (4) 0.02752 0.25000 5.438e-5 2.317e-4 Deafness-infertility syndrome Spermatogenic failure 2 2 STRC (5), CATSPER2 (5) 0.01739 1.00000 5.434e-5 2.317e-4 Deafness, sensorineural, and male infertility Spermatogenic failure 2 2 STRC (4), CATSPER2 (4) 0.01739 1.00000 5.434e-5 2.317e-4 Male infertility acephalic spermatozoa Spermatogenic failure 2 2 PMFBP1 (5), SUN5 (6) 0.01739 1.00000 5.434e-5 2.317e-4 Male infertility teratozoospermia Spermatogenic failure 2 2 CFAP251 (4), CFAP91 (3) 0.01739 1.00000 5.434e-5 2.317e-4 11 Hepatic veno occlusive disease with immunodeficiency Lymphocytic leukemia 2 2 SP140 (2), SP110 (7) 0.01724 1.00000 5.530e-5 2.317e-4 Hemorrhagic stroke Nephrolithiasis 2 0 PDGFA (1), FOXL3 (1) 0.01653 1.00000 6.023e-5 2.317e-4 Ataxia, spastic, autosomal dominant Spastic paraplegia 2 1 TAPBPL (1), VAMP1 (2) 0.01653 1.00000 6.023e-5 2.317e-4 Vascular remodeling Vasculitis 2 2 GATA2 (2), SENP1 (2) 0.05882 0.33333 5.113e-5 2.316e-4 126 Oculocutaneous albinism Waardenburg syndrome 2 2 TYR (6), MITF (7) 0.08000 0.15385 5.106e-5 2.313e-4 Occupational disease Senile cataract 2 2 ERCC2 (2), XRCC1 (2) 0.08000 0.15385 5.106e-5 2.313e-4 Distal myopathy Frontotemporal dementia with or without amyotrophic lateral sclerosis 2 2 VCP (6), SQSTM1 (7) 0.08000 0.16667 5.040e-5 2.285e-4 Megaloblastic anemia Pancytopenia 2 2 TCN2 (3), DHFR (6) 0.08000 0.16667 5.040e-5 2.285e-4 Hydronephrosis Hyperemia 2 2 AGT (2), PTGS2 (2) 0.08000 0.16667 5.040e-5 2.285e-4 Benign prostatic hyperplasia Hemoglobin e disease 2 0 BCL11A (1), HBS1L (1) 0.05128 0.40000 4.998e-5 2.267e-4 3m syndrome Desbuquois syndrome 3 3 CCDC8 (4), CUL7 (5), OBSL1 (3) 0.00528 1.00000 4.968e-5 2.254e-4 Ataxia Episodic ataxia 2 2 CACNA1A (5), CACNB4 (5) 0.07143 0.25000 4.936e-5 2.240e-4 Bone neoplasms Ruptured abdominal aortic aneurysm 2 2 MMP9 (2), TGFBR2 (2) 0.07143 0.25000 4.936e-5 2.240e-4 Bone neoplasms Ruptured aortic aneurysm 2 2 MMP9 (2), TGFBR2 (2) 0.07143 0.25000 4.936e-5 2.240e-4 Hemimegalencephaly Meningioma 2 2 PTEN (3), PIK3CA (2) 0.06667 0.28571 4.866e-5 2.209e-4 Melanocytic nevus Uterine prolapse 2 0 MAFF (1), PLA2G6 (1) 0.08000 0.18182 4.847e-5 2.201e-4 Anhydramnios Renal agenesis 2 1 EYA1 (1), GREB1L (2) 0.08000 0.18182 4.847e-5 2.201e-4 Leigh syndrome Thiamine metabolism dysfunction syndrome 2 2 SLC25A19 (4), TPK1 (4) 0.01852 1.00000 4.784e-5 2.174e-4 Encephalopathy due to mitochondrial and peroxisomal fission defect Leigh syndrome 2 2 DNM1L (3), MFF (2) 0.01852 1.00000 4.784e-5 2.174e-4 Salivary gland neoplasms Weber-cockayne syndrome 2 2 KRT5 (2), ITGB4 (2) 0.04255 0.50000 4.771e-5 2.169e-4 Berardinelli-seip congenital lipodystrophy Epithelial ovarian carcinoma 2 2 FOS (2), CAV1 (2) 0.06061 0.33333 4.762e-5 2.165e-4 79 Male breast carcinoma Triple negative breast cancer 2 0 MLLT10 (1), CCDC170 (1) 0.05263 0.40000 4.713e-5 2.143e-4 38 Microcephaly Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 2 2 TRMT10A (7), PPP1R15B (6) 0.01869 1.00000 4.695e-5 2.135e-4 137 Spondyloepiphyseal dysplasia Synovitis 2 2 COL2A1 (8), WWP2 (2) 0.07692 0.22222 4.624e-5 2.104e-4 Hepatic insufficiency Uremia 2 2 NOS3 (2), TGFB1 (2) 0.07692 0.22222 4.624e-5 2.104e-4 Bronchial disease Cardiac conduction disease 2 2 FPGT-TNNI3K (2), TNNI3K (4) 0.07692 0.22222 4.624e-5 2.104e-4 3 Congenital heart septal defect Imperforate anus 2 2 PCSK5 (2), ROBO1 (2) 0.07692 0.22222 4.624e-5 2.104e-4 Patent ductus arteriosus Tricuspid valve disease 2 0 MYH11 (1), PTPN11 (1) 0.08000 0.20000 4.533e-5 2.064e-4 Male infertility spermatogenesis disorder Swyer syndrome 2 0 DHX37 (1), CHD7 (1) 0.08000 0.20000 4.533e-5 2.064e-4 Angelman syndrome Rett syndrome 2 2 CDKL5 (5), MECP2 (7) 0.08000 0.20000 4.533e-5 2.064e-4 55 Congenital cerebellar ataxia Spinocerebellar ataxia 2 2 GRID2 (6), GRM1 (6) 0.01905 1.00000 4.518e-5 2.059e-4 Renal cysts and diabetes syndrome Testicular carcinoma 2 2 HNF1B (6), GATA4 (2) 0.03226 0.66667 4.468e-5 2.036e-4 Renal cysts and diabetes syndrome Testicular germ cell tumor 2 2 HNF1B (6), GATA4 (2) 0.03226 0.66667 4.468e-5 2.036e-4 autosomal dominant polycystic kidney disease Polycystic liver disease 2 2 ALG8 (5), PKD2 (2) 0.06897 0.28571 4.462e-5 2.034e-4 Anti-neutrophil antibody associated vasculitis Pemphigus vulgaris 2 0 HLA-DQA1 (1), HLA-DQB3 (1) 0.06897 0.28571 4.462e-5 2.034e-4 1 Cervical polyp Female infertility 2 0 IRAK1BP1 (1), MEI4 (1) 0.01923 1.00000 4.431e-5 2.021e-4 Combined oxidative phosphorylation deficiency Mitochondrial encephalomyopathy 3 3 MTRFR (6), FARS2 (6), MRPS25 (4) 0.03659 0.18750 4.427e-5 2.020e-4 62 Coronary thrombosis Platelet disorder 2 1 ITGB3 (2), GP6 (1) 0.08333 0.16667 4.322e-5 1.972e-4 Coronary thrombosis Intracranial hemorrhage 2 1 SCAPER (1), PLAT (2) 0.08333 0.16667 4.322e-5 1.972e-4 Costello syndrome Hypophosphatemic rickets 2 1 HRAS (6), LRRC56 (1) 0.08333 0.16667 4.322e-5 1.972e-4 Occupational disease Papilloma 2 2 TGFB1 (2), NQO1 (2) 0.08333 0.16667 4.322e-5 1.972e-4 Hypotrichosis simplex Rheumatic disease 2 2 PSORS1C1 (2), CDSN (3) 0.08333 0.16667 4.322e-5 1.972e-4 Raynaud disease Thyrotoxic periodic paralysis 2 0 C6orf15 (1), ZFHX3 (1) 0.08333 0.16667 4.322e-5 1.972e-4 Carpal tunnel syndrome Prion disease 3 0 ZBTB38 (1), SEMA3A (1), ADAMTS14 (1) 0.03846 0.17647 4.261e-5 1.947e-4 Cerebral palsy Restrictive cardiomyopathy 3 0 CACNA1C (1), SYNE2 (1), TTN (1) 0.04478 0.13043 4.238e-5 1.937e-4 Cardiovascular abnormalities Cartilage disease 2 2 GATA2 (2), EDN1 (2) 0.08333 0.18182 4.202e-5 1.921e-4 Auditory system disease Vascular brain injury 2 0 BMAL1 (1), RASSF10 (1) 0.08333 0.18182 4.202e-5 1.921e-4 109 Copper overload cirrhosis Nephrosclerosis 2 2 TGFB1 (2), ACTA2 (2) 0.08333 0.18182 4.202e-5 1.921e-4 Testicular disease Testicular hydrocele 2 0 INHBB (1), PAX8 (1) 0.08333 0.18182 4.202e-5 1.921e-4 Autoimmune lymphoproliferative disorder Lymphoproliferative syndrome 2 2 FAS (6), ITK (5) 0.08333 0.18182 4.202e-5 1.921e-4 Hodgkin disease Optic neuropathy 2 1 CSF3 (2), IFNA2 (1) 0.08000 0.22222 4.111e-5 1.882e-4 Atrioventricular block Cardiac conduction disease 2 2 TRPM4 (2), LMNA (3) 0.08000 0.22222 4.111e-5 1.882e-4 3 Intracerebral hemorrhage Small vessel stroke 3 1 COL4A2 (2), PMF1 (1), PMF1-BGLAP (1) 0.04348 0.14286 4.112e-5 1.882e-4 Creutzfeldt-jakob disease Erythropoietic protoporphyria 2 2 AREG (3), EREG (3) 0.06452 0.33333 4.095e-5 1.875e-4 318 Carbohydrate deficient glycoprotein syndrome Congenital disorder of glycosylation 2 2 MAN1B1 (3), TMEM165 (4) 0.02000 1.00000 4.092e-5 1.874e-4 Dextrocardia Heterotaxy syndrome 2 2 ZIC3 (5), CFAP53 (4) 0.07143 0.28571 4.075e-5 1.867e-4 54 Severe congenital neutropenia Shwachman-diamond syndrome 2 2 SRP19 (2), SRP54 (5) 0.07143 0.28571 4.075e-5 1.867e-4 Iron metabolism disorder Iron overload 2 2 CP (3), FTH1 (2) 0.07143 0.28571 4.075e-5 1.867e-4 Neuropathy Visual impairment 2 0 EFEMP1 (1), PNPT1 (1) 0.07692 0.25000 4.021e-5 1.843e-4 152 Brain edema Secondary parkinson disease 2 2 NOS2 (2), SLC18A2 (6) 0.08333 0.20000 3.968e-5 1.819e-4 Eye disorder Gouty arthritis 2 1 IL1B (1), POMC (2) 0.08333 0.20000 3.968e-5 1.819e-4 Gouty arthritis Intervertebral disc disease 2 2 IL1B (2), TGFB1 (2) 0.08333 0.20000 3.968e-5 1.819e-4 289 Diffuse cutaneous systemic sclerosis Pulmonary arterial hypertension 3 1 CAV1 (4), HLA-DPB1 (1), HLA-DPA1 (1) 0.04545 0.13043 3.965e-5 1.819e-4 Cystinuria Myasthenic syndrome 2 2 PREPL (5), SLC3A1 (7) 0.04651 0.50000 3.935e-5 1.806e-4 Bile acid malabsorption Delirium, dementia, and cognitive disorders 2 2 SLC10A2 (5), SLC51B (3) 0.03448 0.66667 3.888e-5 1.785e-4 366 Diffuse idiopathic skeletal hyperostosis Essential tremor 3 0 PIK3R1 (1), CDC5L (1), SUPT3H (1) 0.02830 0.27273 3.855e-5 1.770e-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 1.768e-4 272 Hypercholesterolemia Vascular dementia 5 3 DOCK6 (2), APOE (3), SREBF2 (1), LPL (3), PON2 (1) 0.02941 0.10870 3.828e-5 1.758e-4 Absence epilepsy Ataxia 2 0 CACNA1A (1), CACNA2D2 (1) 0.07407 0.28571 3.705e-5 1.702e-4 227 Brain infarction Obstructive sleep apnea syndrome 4 0 APOE (1), SLC35F3 (1), HS3ST4 (1), ATP10A (1) 0.03509 0.11111 3.682e-5 1.692e-4 Paralysis Postsynaptic congenital myasthenic syndrome 2 2 SCN4A (4), CHRND (4) 0.08696 0.16667 3.659e-5 1.682e-4 Lipoma Urinary system neoplasms 2 0 TERT (1), ACTRT3 (1) 0.08696 0.16667 3.659e-5 1.682e-4 Ductal carcinoma of breast Hydronephrosis 2 2 PTGS2 (2), PTGER1 (2) 0.08696 0.16667 3.659e-5 1.682e-4 Appendicitis Glucose-6-phosphate dehydrogenase deficiency 2 2 IL10 (2), IFNG (2) 0.05882 0.40000 3.656e-5 1.682e-4 Congenital cartilage disorder Intervertebral disc displacement 2 2 COL11A1 (2), CHST3 (2) 0.05882 0.40000 3.656e-5 1.682e-4 Male infertility large polyploid spermatozoa Male infertility spermatogenesis disorder 2 2 DNHD1 (2), AURKC (3) 0.08333 0.22222 3.629e-5 1.670e-4 11 Charge syndrome Male infertility spermatogenesis disorder 2 1 KMT2D (1), CHD7 (7) 0.08333 0.22222 3.629e-5 1.670e-4 Cowden disease Vacterl association 2 2 PTEN (6), KLLN (6) 0.08333 0.22222 3.629e-5 1.670e-4 Hepatic insufficiency Pulmonary edema 2 0 NOS3 (1), MAPK14 (1) 0.08333 0.22222 3.629e-5 1.670e-4 Congenital joint contractures Distal arthrogryposis 2 1 PIEZO2 (4), RYR1 (1) 0.08333 0.22222 3.629e-5 1.670e-4 Body weight Diabetic polyneuropathy 2 2 CDKAL1 (2), FTO (2) 0.08333 0.22222 3.629e-5 1.670e-4 Body weight Synovitis 2 2 POMC (2), FTO (2) 0.08333 0.22222 3.629e-5 1.670e-4 Congenital anomaly of limb Urogenital abnormalities 2 2 TGFB2 (2), HOXA11 (2) 0.08333 0.22222 3.629e-5 1.670e-4 Bile acid malabsorption Cognition disorder 2 2 SLC10A2 (5), SLC51B (4) 0.03571 0.66667 3.613e-5 1.666e-4 366 Digestive system disease Intestinal vascular insufficiency 2 0 C2orf80 (1), NEDD9 (1) 0.02128 1.00000 3.609e-5 1.664e-4 Macrothrombocytopenia Platelet disorder 2 2 ITGB3 (2), TPM4 (2) 0.08696 0.18182 3.604e-5 1.662e-4 67 Erythrocytosis Hereditary hemolytic anemia 2 2 HBB (6), BPGM (3) 0.08696 0.18182 3.604e-5 1.662e-4 Essential thrombocythemia Stomatitis 2 1 IFNA2 (1), VWF (2) 0.08696 0.18182 3.604e-5 1.662e-4 Cushing's disease Giant cell glioblastoma 2 2 TP53 (2), PPARG (2) 0.08696 0.18182 3.604e-5 1.662e-4 Congenital heart septal defect Double outlet right ventricle 2 2 NKX2-5 (2), YES1 (2) 0.08000 0.25000 3.599e-5 1.661e-4 Dyslipidemias Osteosclerosis 2 2 TNFRSF11A (3), TCIRG1 (4) 0.08000 0.25000 3.599e-5 1.661e-4 Ruptured abdominal aortic aneurysm Thoracic aortic aneurysm 2 2 FBN1 (2), EFEMP2 (2) 0.08000 0.25000 3.599e-5 1.661e-4 64 Ruptured aortic aneurysm Thoracic aortic aneurysm 2 2 FBN1 (2), EFEMP2 (2) 0.08000 0.25000 3.599e-5 1.661e-4 64 Ruptured thoracic aortic aneurysm Thoracic aortic aneurysm 2 2 FBN1 (2), EFEMP2 (2) 0.08000 0.25000 3.599e-5 1.661e-4 64 Thoracic aortic aneurysm Thoracoabdominal aortic aneurysm 2 2 FBN1 (2), EFEMP2 (2) 0.08000 0.25000 3.599e-5 1.661e-4 64 Benign infantile epilepsy Myoclonic epilepsy 2 2 CHRNA2 (2), KCNQ3 (3) 0.06897 0.33333 3.479e-5 1.608e-4 Brain edema Hepatic encephalopathy 2 2 S100B (2), TNF (2) 0.08696 0.20000 3.440e-5 1.590e-4 Childhood absence epilepsy Hepatic encephalopathy 2 2 GABRG2 (3), GABRA1 (3) 0.08696 0.20000 3.440e-5 1.590e-4 Congenital epicanthus Esotropia 2 0 ANKRD11 (1), TFAP2A (1) 0.08696 0.20000 3.440e-5 1.590e-4 Bronchial hyperreactivity Common migraine 2 2 TAC1 (2), CALCA (2) 0.08696 0.20000 3.440e-5 1.590e-4 Brain aneurysm Peripheral vascular disease 4 0 CARD11 (1), HDAC9 (1), LINGO2 (1), EDNRA (1) 0.03419 0.12121 3.433e-5 1.588e-4 Corneal edema Duodenal ulcer 2 0 PRTFDC1 (1), ARHGAP21 (1) 0.05000 0.50000 3.361e-5 1.555e-4 Dextrocardia Situs inversus 2 1 ZIC3 (2), CFAP53 (1) 0.07692 0.28571 3.353e-5 1.552e-4 54 Congenital diaphragmatic hernia Cryptophthalmos syndrome 2 1 FRAS1 (1), FREM2 (2) 0.07692 0.28571 3.353e-5 1.552e-4 Gallbladder disease Intrahepatic cholestasis of pregnancy 2 2 ABCG8 (4), ABCB4 (5) 0.07692 0.28571 3.353e-5 1.552e-4 Cirrhosis Liver failure 2 2 KRT8 (3), KRT18 (4) 0.03704 0.66667 3.349e-5 1.551e-4 63 Interstitial lung disease Systemic scleroderma 3 1 RTEL1 (2), HLA-DPB1 (1), HLA-DPA1 (1) 0.03797 0.20000 3.299e-5 1.528e-4 Gaucher disease Metachromatic leukodystrophy 2 1 PSAP (7), CDH23 (1) 0.08333 0.25000 3.200e-5 1.483e-4 114 Chondrodysplasia Duodenitis 2 2 PAM16 (2), CORO7-PAM16 (2) 0.08333 0.25000 3.200e-5 1.483e-4 Huntington disease Pheochromocytoma 3 3 MAOA (2), MAOB (2), GDNF (2) 0.04000 0.18750 3.193e-5 1.480e-4 Middle aortic syndrome Moyamoya angiopathy 2 0 NF1 (1), RNF213 (1) 0.05128 0.50000 3.179e-5 1.474e-4 71 Oral cavity carcinoma Respiratory system neoplasm 2 0 HLA-DQB1 (1), ADH1B (1) 0.06250 0.40000 3.178e-5 1.474e-4 1 Irritant dermatitis Systemic scleroderma 2 2 HLA-DPB1 (3), HLA-DPA1 (3) 0.08696 0.22222 3.176e-5 1.473e-4 22 Myofibrillar myopathy Posterior subcapsular cataract 2 2 CRYAB (3), UNC45B (4) 0.09091 0.18182 3.050e-5 1.415e-4 Trichothiodystrophy Xeroderma pigmentosum 2 2 ERCC2 (7), ERCC3 (8) 0.09091 0.18182 3.050e-5 1.415e-4 113 Postsynaptic congenital myasthenic syndrome Presynaptic congenital myasthenic syndrome 2 2 AGRN (3), COL13A1 (3) 0.09091 0.18182 3.050e-5 1.415e-4 5 Demyelinating diseases Paralysis 2 2 MOG (2), SIRT1 (2) 0.09091 0.18182 3.050e-5 1.415e-4 Congenital foot deformity Growth disorder 2 2 FGD1 (2), PTHLH (2) 0.05263 0.50000 3.003e-5 1.395e-4 Glucose-6-phosphate dehydrogenase deficiency Hepatolenticular degeneration 2 2 IL10 (2), IL6 (2) 0.06452 0.40000 2.951e-5 1.371e-4 Esotropia Hyperbilirubinemia 2 2 SOD2 (2), TNF (2) 0.09091 0.20000 2.950e-5 1.371e-4 Gilbert syndrome Hyperbilirubinemia 2 2 UGT1A1 (4), SLCO1B1 (3) 0.09091 0.20000 2.950e-5 1.371e-4 256 Keratosis Senile cataract 2 1 CAT (2), GSTM1 (1) 0.09091 0.20000 2.950e-5 1.371e-4 Carotid artery stenosis Eye disorder 2 0 F2 (1), MTHFR (1) 0.09091 0.20000 2.950e-5 1.371e-4 Combined oxidative phosphorylation deficiency Perrault syndrome 3 3 PRORP (5), RMND1 (5), MRPL49 (2) 0.03750 0.21429 2.896e-5 1.347e-4 Carpal tunnel syndrome Uterine prolapse 3 1 FBN2 (3), EFEMP1 (1), WNT4 (1) 0.03947 0.20000 2.868e-5 1.334e-4 Neurofibromatosis-noonan syndrome Strabismus 2 1 NF1 (6), PTPN11 (1) 0.05405 0.50000 2.832e-5 1.317e-4 Paraganglioma Pheochromocytoma 2 2 SDHB (3), SDHD (3) 0.08696 0.25000 2.824e-5 1.314e-4 78 Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 2 2 SDHB (4), SDHD (4) 0.08696 0.25000 2.824e-5 1.314e-4 78 Rubinstein-taybi syndrome Vacterl association 2 0 DLX5 (1), SMOC1 (1) 0.08696 0.25000 2.824e-5 1.314e-4 195 Gliosarcoma Urologic neoplasms 2 1 TP53 (2), VEGFA (1) 0.08696 0.25000 2.824e-5 1.314e-4 Hepatic insufficiency Intestinal disease 2 2 NOS2 (2), MAPK14 (2) 0.09091 0.22222 2.754e-5 1.283e-4 Granulomatosis with polyangiitis Irritant dermatitis 2 2 HLA-DPB1 (4), HLA-DPA1 (3) 0.09091 0.22222 2.754e-5 1.283e-4 Metabolic bone disorder Vitamin deficiency disorder 2 2 GC (2), CYP2R1 (2) 0.09091 0.22222 2.754e-5 1.283e-4 Asperger syndrome Fatigue syndrome 2 2 DISC1 (2), SLC6A4 (2) 0.09091 0.22222 2.754e-5 1.283e-4 392 Bicuspid aortic valve Optic neuropathy 2 0 ATP6 (1), ATP8 (1) 0.09091 0.22222 2.754e-5 1.283e-4 26 Cholangitis Intrahepatic cholestasis 2 2 EGR1 (2), ABCB4 (2) 0.09091 0.22222 2.754e-5 1.283e-4 Endocrine system disease Hepatic insufficiency 2 2 NFE2L2 (2), RELA (2) 0.09091 0.22222 2.754e-5 1.283e-4 80 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 1.261e-4 Osteolysis Uremia 2 2 SPP1 (2), TNFRSF11B (2) 0.08333 0.28571 2.701e-5 1.260e-4 Otosclerosis Uremia 3 3 SPP1 (3), TGFB1 (3), KDR (3) 0.04478 0.16667 2.697e-5 1.259e-4 Autoimmune polyendocrine syndrome Bronchitis 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.05556 0.50000 2.665e-5 1.244e-4 1 Bronchitis Esophageal achalasia 2 2 HLA-DQA1 (3), HLA-DQB1 (3) 0.05556 0.50000 2.665e-5 1.244e-4 1 Bronchitis Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.05556 0.50000 2.665e-5 1.244e-4 1 Cushing syndrome Penile disease 2 2 ATRX (2), POMC (2) 0.07692 0.33333 2.649e-5 1.237e-4 Ataxia Choreoathetosis 2 2 SCN8A (2), SLC2A1 (2) 0.07692 0.33333 2.649e-5 1.237e-4 Hemorrhagic disease Thrombocytosis 2 2 THPO (5), JAK2 (4) 0.07692 0.33333 2.649e-5 1.237e-4 Hemorrhagic disease Thrombocythemia 2 2 THPO (5), JAK2 (5) 0.07692 0.33333 2.649e-5 1.237e-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 1.214e-4 Periodic limb movement disorder Sleep disorder 2 0 BTBD9 (1), MEIS1 (1) 0.09524 0.18182 2.543e-5 1.189e-4 Hematuria Infantile spasms 2 2 POMC (2), LMX1B (2) 0.09524 0.18182 2.543e-5 1.189e-4 Autoimmune lymphoproliferative disorder Melanocytic nevus 2 2 NRAS (4), CASP8 (5) 0.09524 0.18182 2.543e-5 1.189e-4 17 Ductal carcinoma Prostatic intraepithelial neoplasia 2 0 PTEN (1), CDH1 (1) 0.09524 0.18182 2.543e-5 1.189e-4 Demyelinating diseases Ductal carcinoma 2 2 TP53 (2), MYC (2) 0.09524 0.18182 2.543e-5 1.189e-4 Dyslipidemias Promyelocytic leukemia 3 3 PPARG (2), RARA (2), PML (2) 0.04545 0.16667 2.540e-5 1.189e-4 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 1.187e-4 41 Cleft lip and cleft of alveolar process of maxilla Ectodermal dysplasia 2 0 TP63 (1), NECTIN1 (1) 0.05714 0.50000 2.504e-5 1.173e-4 Ectodermal dysplasia Pachyonychia congenita 2 2 KRT17 (6), KRT16 (6) 0.05714 0.50000 2.504e-5 1.173e-4 Wagr syndrome Wilms tumor 2 2 WT1 (7), PAX6 (4) 0.05714 0.50000 2.504e-5 1.173e-4 Hepatoblastoma Wilms tumor 2 1 IGF2 (3), CTNNB1 (1) 0.05714 0.50000 2.504e-5 1.173e-4 81 Congenital aneurysm of ascending aorta Tricuspid valve disease 2 0 MYH11 (1), NDE1 (1) 0.09524 0.20000 2.497e-5 1.171e-4 Intervertebral disc disease Trigeminal neuralgia 2 2 IL1B (2), TNF (2) 0.09524 0.20000 2.497e-5 1.171e-4 289 Esotropia Papilloma 2 2 SOD2 (2), PTGS2 (2) 0.09524 0.20000 2.497e-5 1.171e-4 monogenic diabetes Paralysis 2 2 INS (2), SIRT1 (2) 0.09524 0.20000 2.497e-5 1.171e-4 Hydronephrosis Hypertensive heart disease 2 0 PDILT (1), UMOD (1) 0.09524 0.20000 2.497e-5 1.171e-4 313 Hyperoxaluria Pleural diseases 2 2 IL6 (2), CCL2 (2) 0.09524 0.20000 2.497e-5 1.171e-4 Majewski syndrome Saldino-noonan syndrome 2 0 NEK1 (1), DYNC2H1 (1) 0.09524 0.20000 2.497e-5 1.171e-4 19 Nanophthalmos Septo-optic dysplasia 2 2 SOX2 (3), OTX2 (2) 0.09524 0.20000 2.497e-5 1.171e-4 Endometrial hyperplasia Intestinal neoplasms 2 2 CTNNB1 (2), APC (2) 0.09524 0.20000 2.497e-5 1.171e-4 Ductal carcinoma of breast Esotropia 2 2 SOD2 (2), PTGS2 (2) 0.09524 0.20000 2.497e-5 1.171e-4 Ductal carcinoma of breast Tongue neoplasms 2 0 SOD2 (1), PTGS2 (1) 0.09524 0.20000 2.497e-5 1.171e-4 270 Dwarfism Ear, patella, short stature syndrome 2 2 ORC1 (3), DONSON (2) 0.09524 0.20000 2.497e-5 1.171e-4 175 Common migraine Trigeminal neuralgia 2 2 TNF (2), CALCA (2) 0.09524 0.20000 2.497e-5 1.171e-4 Angina pectoris Esotropia 2 1 TNF (2), CXCL8 (1) 0.09524 0.20000 2.497e-5 1.171e-4 43 Childhood absence epilepsy Lennox-gastaut syndrome 2 2 GABRG2 (2), GABRB3 (4) 0.09524 0.20000 2.497e-5 1.171e-4 Childhood absence epilepsy Idiopathic generalized epilepsy 2 2 GABRA1 (3), SLC2A1 (4) 0.09524 0.20000 2.497e-5 1.171e-4 227 Bone resorption Cachexia 2 0 PTHLH (1), GHRL (1) 0.09524 0.20000 2.497e-5 1.171e-4 Uterine prolapse Visual impairment 2 0 EFEMP1 (1), PNPT1 (1) 0.09091 0.25000 2.472e-5 1.163e-4 152 Gouty arthritis Mucositis 2 2 IL1B (2), IL1RN (2) 0.09091 0.25000 2.472e-5 1.163e-4 Anhedonia Panic disorder 3 0 COMT (1), HTR1A (1), CRH (1) 0.05172 0.11538 2.470e-5 1.163e-4 Keratinocyte carcinoma Primary adrenal insufficiency 2 0 CUX1 (1), MYL10 (1) 0.02564 1.00000 2.468e-5 1.162e-4 Developmental delay with variable intellectual disability Intellectual disability 2 2 TCF20 (5), JARID2 (5) 0.02597 1.00000 2.404e-5 1.132e-4 Asbestosis Osteolysis 2 2 SPP1 (2), TNF (2) 0.08696 0.28571 2.401e-5 1.131e-4 Atrioventricular block Hereditary bundle branch system defect 2 1 TRPM4 (2), NKX2-5 (1) 0.08696 0.28571 2.401e-5 1.131e-4 3 Atrioventricular block Emery-dreifuss muscular dystrophy 2 2 LMNA (6), SYNE1 (6) 0.08696 0.28571 2.401e-5 1.131e-4 Acromesomelic dysplasia Chondrodysplasia 2 2 BMPR1B (3), GDF5 (5) 0.08696 0.28571 2.401e-5 1.131e-4 Hodgkin disease Hyper-igm immunodeficiency syndrome 2 2 CD40LG (5), CD40 (6) 0.08696 0.28571 2.401e-5 1.131e-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 1.131e-4 Aortic arch syndrome Retinopathy of prematurity 2 0 HLA-DRB1 (1), HLA-B (1) 0.08000 0.33333 2.397e-5 1.131e-4 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 1.118e-4 73 Optic neuropathy Raynaud disease 2 1 NOS3 (2), IFNA2 (1) 0.09524 0.22222 2.361e-5 1.114e-4 Arterial occlusive disease Intracranial hemorrhage 2 2 PLAU (2), PLAT (2) 0.09524 0.22222 2.361e-5 1.114e-4 29 Hepatic insufficiency Occupational disease 2 2 ALB (2), TGFB1 (2) 0.09524 0.22222 2.361e-5 1.114e-4 Anencephaly Hyperhomocysteinemia 2 2 MTHFR (2), MTRR (2) 0.09524 0.22222 2.361e-5 1.114e-4 155 Hyperhomocysteinemia Intracellular cobalamin metabolism disorder 2 2 MTRR (3), MTR (2) 0.09524 0.22222 2.361e-5 1.114e-4 Neural tube defects, folate-sensitive Neural tube defects, x-linked 2 2 MTHFR (2), MTHFD1 (2) 0.05882 0.50000 2.348e-5 1.109e-4 Bowen’s disease Neuronal ceroid lipofuscinosis 2 2 TFAM (2), PPARGC1A (2) 0.05882 0.50000 2.348e-5 1.109e-4 Carpal tunnel syndrome Stickler syndrome 3 3 COL11A1 (6), VCAN (2), COL11A2 (2) 0.04000 0.21429 2.301e-5 1.088e-4 Emphysema Hemorrhage 3 2 SERPINA1 (2), PLAU (2), TNFRSF8 (1) 0.05172 0.12500 2.297e-5 1.086e-4 Aortic stenosis Brain aneurysm 5 0 FERD3L (1), POLR1F (1), MYEOV (1), BET1L (1), RNF144A (1) 0.03497 0.08333 2.193e-5 1.037e-4 Amblyopia Strabismus 3 0 GALC (1), KMT2D (1), SLC9A6 (1) 0.05263 0.12000 2.188e-5 1.035e-4 Hemorrhoid Leiomyoma 3 3 EGFR (2), ESR1 (2), SMAD3 (2) 0.03093 0.30000 2.175e-5 1.029e-4 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 1.023e-4 Hyperparathyroidism Hypocalcemia 2 2 PTH (2), CASR (7) 0.08333 0.33333 2.157e-5 1.021e-4 Eyelid disease Neuropathy 2 0 EFEMP1 (1), PNPT1 (1) 0.08333 0.33333 2.157e-5 1.021e-4 152 Dravet syndrome Hepatic encephalopathy 2 2 GABRG2 (4), GABRA1 (3) 0.09524 0.25000 2.143e-5 1.015e-4 Hyperemia Turner syndrome 2 2 CAT (2), NOS2 (2) 0.09524 0.25000 2.143e-5 1.015e-4 Hyperemia Occupational dermatitis 2 2 KNG1 (2), BDKRB2 (2) 0.09524 0.25000 2.143e-5 1.015e-4 Hyperuricemic nephropathy Polycystic liver disease 2 1 HNF1B (1), SEC61A1 (3) 0.07407 0.40000 2.128e-5 1.009e-4 97 Fuchs endothelial dystrophy Polymorphous corneal dystrophy 2 2 COL8A2 (3), ZEB1 (3) 0.07407 0.40000 2.128e-5 1.009e-4 87 Fuchs endothelial dystrophy Posterior polymorphous corneal dystrophy 2 2 COL8A2 (4), ZEB1 (5) 0.07407 0.40000 2.128e-5 1.009e-4 87 Hereditary hemorrhagic telangiectasia Hydrops fetalis 2 0 RASA1 (1), CCNH (1) 0.09091 0.28571 2.119e-5 1.005e-4 65 Hydrops fetalis Klippel-trenaunay syndrome 2 0 RASA1 (1), CCNH (1) 0.09091 0.28571 2.119e-5 1.005e-4 65 Klippel-trenaunay syndrome Vacterl association 2 0 DLX5 (1), SMOC1 (1) 0.09091 0.28571 2.119e-5 1.005e-4 Congenital fibrosis of extraocular muscles Epidermal nevus 2 1 HRAS (3), LRRC56 (1) 0.09091 0.28571 2.119e-5 1.005e-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 1.005e-4 Cervical polyp Sjogren syndrome 2 1 IRAK1BP1 (3), MEI4 (1) 0.02778 1.00000 2.096e-5 9.952e-5 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 9.921e-5 Hepatic encephalopathy Huntington disease 3 3 GLUL (2), MAOA (2), MAOB (2) 0.04110 0.21429 2.087e-5 9.915e-5 Cryptorchidism Hypospadias 3 2 AR (4), KAT6B (1), HSD3B2 (2) 0.05000 0.15000 2.083e-5 9.895e-5 Ductal carcinoma Endometrial hyperplasia 2 2 PTEN (2), TP53 (2) 0.10000 0.20000 2.081e-5 9.891e-5 Dwarfism Meier-gorlin syndrome 2 2 ORC1 (5), DONSON (2) 0.10000 0.20000 2.081e-5 9.891e-5 175 Autoimmune lymphoproliferative disorder Myelomonocytic leukemia 2 2 KRAS (2), NRAS (4) 0.10000 0.20000 2.081e-5 9.891e-5 Headache Stomatitis 2 1 CSF3 (2), IFNA2 (1) 0.10000 0.20000 2.081e-5 9.891e-5 Primary graft dysfunction Vasculitis 2 2 GATA2 (2), SENP1 (2) 0.06250 0.50000 2.050e-5 9.751e-5 126 Ataxia, spastic, autosomal recessive Spastic ataxia 2 2 KIF1C (5), MARS2 (5) 0.02817 1.00000 2.037e-5 9.692e-5 Coronary thrombosis Von willebrand disorder 2 1 PLAT (2), GP6 (1) 0.10000 0.22222 1.998e-5 9.509e-5 414 Hyperproinsulinemia Latent autoimmune diabetes in adults 2 2 INS (6), INS-IGF2 (2) 0.10000 0.22222 1.998e-5 9.509e-5 Congenital arteriovenous malformation Hypophosphatemic rickets 2 0 HRAS (1), LRRC56 (1) 0.10000 0.22222 1.998e-5 9.509e-5 17 Lipoma Venous insufficiency 2 0 SLC19A2 (1), F5 (1) 0.10000 0.22222 1.998e-5 9.509e-5 Cystine urolithiasis Myasthenic syndrome 2 1 PREPL (5), SLC3A1 (1) 0.04762 0.66667 1.971e-5 9.386e-5 Dysarthria Xeroderma pigmentosum-cockayne syndrome 2 1 BIVM-ERCC5 (1), ERCC5 (3) 0.07692 0.40000 1.944e-5 9.259e-5 Neurodegenerative disorder Splenomegaly 3 3 APP (2), PSEN1 (2), MAPT (2) 0.05085 0.15000 1.936e-5 9.223e-5 Cyclin-dependent kinase-like 5 deficiency Gross motor development delay 2 0 CACNA1A (1), MECP2 (1) 0.08696 0.33333 1.931e-5 9.202e-5 55 Rickets Uremia 2 2 VDR (2), PTH (2) 0.08696 0.33333 1.931e-5 9.202e-5 Cervical disc degenerative disorder Uremia 2 2 TGFB1 (2), SPARC (2) 0.08696 0.33333 1.931e-5 9.202e-5 289 Developmental regression Focal onset epileptic seizure 2 0 SCN8A (1), GNB1 (1) 0.08696 0.33333 1.931e-5 9.202e-5 424 Amnesia Gastrointestinal hemorrhage 2 2 AVP (2), CSF2 (2) 0.08696 0.33333 1.931e-5 9.202e-5 Corneal neovascularization Diabetes microvascular complications 2 2 VEGFA (3), IL1RN (3) 0.08696 0.33333 1.931e-5 9.202e-5 Ankle fracture Bone fracture 2 0 CPED1 (1), WNT16 (1) 0.02899 1.00000 1.922e-5 9.171e-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 9.122e-5 Lymphoid leukemia Waldenstrom macroglobulinemia 2 0 EXOC2 (1), IRF4 (1) 0.06452 0.50000 1.909e-5 9.115e-5 autosomal dominant polycystic kidney disease Intracranial aneurysm 2 2 PKD1 (2), PKD2 (2) 0.09524 0.28571 1.855e-5 8.859e-5 Colobomatous microphthalmia Klippel-feil syndrome 2 2 GDF6 (6), GDF3 (6) 0.09524 0.28571 1.855e-5 8.859e-5 52 Chiari-frommel syndrome Dyskinesia, drug-induced 2 2 DRD2 (2), GAD1 (2) 0.09524 0.28571 1.855e-5 8.859e-5 118 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 8.826e-5 35 Auricle malformation Byzanthine arch palate 2 0 FGFR2 (1), EARS2 (1) 0.10000 0.25000 1.837e-5 8.782e-5 Congenital nystagmus Oculocutaneous albinism 2 2 OCA2 (6), TYR (5) 0.10000 0.25000 1.837e-5 8.782e-5 Rheumatic disease Urologic neoplasms 2 2 WWOX (2), FHIT (2) 0.10000 0.25000 1.837e-5 8.782e-5 Optic neuritis Visual impairment 2 0 EFEMP1 (1), PNPT1 (1) 0.10000 0.25000 1.837e-5 8.782e-5 Glycogen storage disease Left ventricular disease 4 4 ACE (2), PRKAG2 (3), TNNT2 (4), GAA (7) 0.04000 0.10811 1.828e-5 8.745e-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 8.660e-5 13 Degenerative disorder Splenomegaly 3 3 APP (2), PSEN1 (2), MAPT (2) 0.05172 0.15000 1.796e-5 8.595e-5 Developmental delay Mitochondrial encephalopathy 2 0 COX3 (1), FOXRED1 (1) 0.05000 0.66667 1.776e-5 8.505e-5 Bladder exstrophy and epispadias complex Tetra-amelia syndrome 2 1 WNT3 (7), LRRC37A2 (1) 0.06667 0.50000 1.773e-5 8.490e-5 Aneurysm Coronary syndrome 2 0 CELSR2 (1), LPA (1) 0.06667 0.50000 1.773e-5 8.490e-5 Aortic rupture Bone neoplasms 2 2 MMP9 (2), MMP2 (2) 0.08000 0.40000 1.767e-5 8.467e-5 Brain small vessel disease Intracerebral hemorrhage 2 2 COL4A2 (3), COL4A1 (4) 0.08000 0.40000 1.767e-5 8.467e-5 33 Aplasia cutis congenita Epidermolysis bullosa 2 2 PLEC (8), ITGB4 (5) 0.08000 0.40000 1.767e-5 8.467e-5 229 Diabetes microvascular complications Substance-induced psychosis 2 2 ACE (2), SOD2 (3) 0.09091 0.33333 1.716e-5 8.229e-5 Asbestosis Cervical disc degenerative disorder 2 2 IL1B (2), TNF (2) 0.09091 0.33333 1.716e-5 8.229e-5 Degenerative disorder Frontotemporal dementia 4 2 PSEN1 (4), MAPT (4), FUS (1), TARDBP (1) 0.04124 0.10000 1.714e-5 8.221e-5 Frontotemporal dementia Generalized anxiety disorder 4 1 MAPT (5), ST18 (1), TMEM106B (1), VWDE (1) 0.04124 0.10000 1.714e-5 8.221e-5 Mastocytosis Sickle cell anemia 3 2 HBE1 (2), HBG2 (2), OR51B5 (1) 0.05556 0.10714 1.711e-5 8.212e-5 237 Esotropia Tongue neoplasms 2 2 SOD2 (2), PTGS2 (2) 0.10526 0.20000 1.704e-5 8.177e-5 Head and neck cancer Tongue neoplasms 2 0 TERT (1), HLA-DQB1 (1) 0.10526 0.20000 1.704e-5 8.177e-5 Berylliosis Vascular system injury 2 0 ACE (1), TNF (1) 0.10526 0.20000 1.704e-5 8.177e-5 Berylliosis Intervertebral disc disease 2 0 TNF (1), TGFB1 (1) 0.10526 0.20000 1.704e-5 8.177e-5 289 Congenital skin anomaly Ectrodactyly 2 1 TP63 (6), FGFR2 (1) 0.10526 0.20000 1.704e-5 8.177e-5 Ectrodactyly Skin abnormalities 2 2 TP63 (6), FGFR2 (2) 0.10526 0.20000 1.704e-5 8.177e-5 Arterial occlusive disease Hematuria 2 2 PLAU (2), CYP1A1 (2) 0.10526 0.22222 1.666e-5 8.006e-5 Anhydramnios Fabry disease 2 0 ACE (1), AGT (1) 0.10526 0.22222 1.666e-5 8.006e-5 Optic neuropathy Stomatitis 2 1 CSF3 (2), IFNA2 (1) 0.10526 0.22222 1.666e-5 8.006e-5 26 Beta thalassemia Diamond-blackfan anemia 3 2 EPO (4), GATA1 (5), GH1 (1) 0.05357 0.14286 1.649e-5 7.930e-5 Arthritis Autoimmune polyendocrine syndrome 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.06897 0.50000 1.642e-5 7.898e-5 1 Arthritis Esophageal achalasia 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.06897 0.50000 1.642e-5 7.898e-5 1 Arthritis Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.06897 0.50000 1.642e-5 7.898e-5 1 Bicuspid aortic valve Hereditary bundle branch system defect 2 1 DSP (1), NKX2-5 (2) 0.10000 0.28571 1.608e-5 7.741e-5 Angle closure glaucoma Hepatic veno occlusive disease 2 0 MTHFR (1), GSTM1 (1) 0.10000 0.28571 1.608e-5 7.741e-5 Bronchial hyperreactivity Extravasation of diagnostic and therapeutic materials 2 2 TAC1 (2), IL1RN (2) 0.10000 0.28571 1.608e-5 7.741e-5 Testicular disease Thyroid agenesis 2 2 PAX8 (2), IGSF1 (2) 0.10000 0.28571 1.608e-5 7.741e-5 102 Hepatic encephalopathy Nausea 2 2 TNF (2), OPRM1 (2) 0.10000 0.28571 1.608e-5 7.741e-5 Bonnevie-ullrich syndrome Hyperemia 2 2 CAT (2), NOS2 (2) 0.10000 0.28571 1.608e-5 7.741e-5 Ambiguous genitalia Fraser syndrome 2 2 WT1 (6), FREM2 (6) 0.08333 0.40000 1.599e-5 7.709e-5 Congenital diaphragmatic hernia Diaphragmatic malformations 2 2 ZFPM2 (5), PLS3 (2) 0.08333 0.40000 1.599e-5 7.709e-5 Esophageal adenocarcinoma Hyperlipidemia 5 1 ALDH1A2 (1), APOB (3), BCL3 (1), SLC22A2 (1), SLC22A3 (1) 0.02907 0.14286 1.560e-5 7.526e-5 Episodic ataxia Lennox-gastaut syndrome 2 2 CACNA1A (6), SCN2A (4) 0.10526 0.25000 1.555e-5 7.501e-5 Eye neoplasms Prader-willi syndrome 2 2 HERC2 (5), OCA2 (3) 0.10526 0.25000 1.555e-5 7.501e-5 302 Congenital nystagmus Eye neoplasms 2 2 OCA2 (2), TYR (2) 0.10526 0.25000 1.555e-5 7.501e-5 Rothmund-thomson syndrome Ruptured abdominal aortic aneurysm 2 0 ELN (1), EFEMP2 (1) 0.10526 0.25000 1.555e-5 7.501e-5 Non-organic psychosis Schizoaffective disorder 4 0 C9orf72 (1), PRKCA (1), SAT1 (1), CALR (1) 0.04000 0.11765 1.547e-5 7.471e-5 Huntington disease Interstitial nephritis 2 2 FAN1 (4), MTMR10 (2) 0.03226 1.00000 1.544e-5 7.456e-5 Dementia in huntington’s disease Huntington disease 2 2 PRNP (6), JPH3 (6) 0.03226 1.00000 1.544e-5 7.456e-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 7.383e-5 Curling ulcer Diffuse gastric adenocarcinoma 2 2 ABO (2), PSCA (2) 0.09524 0.33333 1.515e-5 7.324e-5 215 Contracture of multiple joints Hydrops fetalis 2 0 MYO18A (1), FLVCR2 (1) 0.09524 0.33333 1.515e-5 7.324e-5 Gallbladder neoplasms Penile neoplasms 2 0 TP53 (1), KRAS (1) 0.07143 0.50000 1.515e-5 7.324e-5 Urination disorders Ventricular remodeling 2 2 NOS1 (2), NPPA (2) 0.07143 0.50000 1.515e-5 7.324e-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 7.318e-5 Geleophysic dysplasia Growth disorder 2 2 LTBP3 (6), ADAMTSL2 (5) 0.05405 0.66667 1.504e-5 7.276e-5 Bouillaud’s disease Diabetic ketoacidosis 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.05405 0.66667 1.504e-5 7.276e-5 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 7.246e-5 1 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 7.109e-5 16 B-lymphoblastic leukemia/lymphoma Li-fraumeni syndrome 2 2 TP53 (7), CDKN2A (2) 0.08696 0.40000 1.439e-5 6.971e-5 45 B-lymphoblastic leukemia/lymphoma Urogenital neoplasms 2 2 TP53 (2), CDKN2A (2) 0.08696 0.40000 1.439e-5 6.971e-5 B-lymphoblastic leukemia/lymphoma Malt lymphoma 2 0 FOXP1 (1), IGH (1) 0.08696 0.40000 1.439e-5 6.971e-5 Pfeiffer syndrome Triple negative breast cancer 2 2 MDM4 (2), FGFR2 (8) 0.05556 0.66667 1.418e-5 6.871e-5 38 Central nervous system disease Transient ischemic attack 2 2 EPO (2), SOD2 (2) 0.07407 0.50000 1.394e-5 6.759e-5 Anti-glomerular basement membrane disease Polyneuropathy 2 0 HLA-DRB1 (1), FCGR3A (1) 0.07407 0.50000 1.394e-5 6.759e-5 Amnesia Neurodegenerative disorder 3 3 APP (2), IL6 (2), NGF (2) 0.05263 0.16667 1.391e-5 6.745e-5 Myopathic ophthalmopathy Vogt-koyanagi-harada disease 2 2 IL23R (2), PTPN22 (2) 0.10526 0.28571 1.379e-5 6.687e-5 Peeling skin syndrome Rheumatic disease 2 2 PSORS1C1 (2), CDSN (7) 0.10526 0.28571 1.379e-5 6.687e-5 Basal ganglia disease Prostatic hyperplasia 2 2 PRL (2), PDGFB (2) 0.10526 0.28571 1.379e-5 6.687e-5 Extravasation of diagnostic and therapeutic materials Pruritus 2 0 TAC1 (1), HRH1 (1) 0.10526 0.28571 1.379e-5 6.687e-5 Congestive ophthalmopathy Vogt-koyanagi-harada disease 2 2 IL23R (2), PTPN22 (2) 0.10526 0.28571 1.379e-5 6.687e-5 Branchiootorenal syndrome Congenital abnormalities 2 2 EYA1 (5), SIX1 (6) 0.10526 0.28571 1.379e-5 6.687e-5 134 Carotid artery stenosis Osteolysis 2 2 SPP1 (2), TNFRSF11B (2) 0.10526 0.28571 1.379e-5 6.687e-5 Keratoconus Marfan syndrome 5 4 COL5A1 (3), SMAD3 (2), COL1A1 (3), LOX (2), COL5A2 (1) 0.03333 0.11628 1.376e-5 6.685e-5 50 Pituitary hormone deficiency Septo-optic dysplasia 2 2 HESX1 (5), OTX2 (4) 0.11111 0.22222 1.363e-5 6.626e-5 273 Aniridia Tooth abnormalities 2 2 PAX6 (4), PITX2 (3) 0.11111 0.22222 1.363e-5 6.626e-5 Osteomyelitis Tongue neoplasms 2 2 TERT (2), HLA-DQB1 (2) 0.11111 0.22222 1.363e-5 6.626e-5 Head and neck cancer Osteomyelitis 2 2 TERT (2), HLA-DQB1 (2) 0.11111 0.22222 1.363e-5 6.626e-5 1 Headache Optic neuropathy 2 1 CSF3 (2), IFNA2 (1) 0.11111 0.22222 1.363e-5 6.626e-5 Hepatic insufficiency Keratosis 2 2 NFE2L2 (2), KEAP1 (2) 0.11111 0.22222 1.363e-5 6.626e-5 Hypertensive heart disease Osteomyelitis 2 0 TCF7L2 (1), FTO (1) 0.11111 0.22222 1.363e-5 6.626e-5 Eye disorder Synovitis 2 2 COL2A1 (2), POMC (2) 0.11111 0.22222 1.363e-5 6.626e-5 15 Anencephaly Eye disorder 2 0 MTHFR (1), RPGRIP1L (1) 0.11111 0.22222 1.363e-5 6.626e-5 Arterial occlusive disease Brain edema 2 2 PLAU (2), PLAT (2) 0.11111 0.22222 1.363e-5 6.626e-5 29 Atrophy Splenic disease 2 2 CYP1A2 (2), AHR (2) 0.11111 0.22222 1.363e-5 6.626e-5 Combined pituitary hormone deficiency Septo-optic dysplasia 2 2 HESX1 (6), OTX2 (3) 0.11111 0.22222 1.363e-5 6.626e-5 273 Diabetic polyneuropathy Hypertensive heart disease 2 0 TCF7L2 (1), FTO (1) 0.11111 0.22222 1.363e-5 6.626e-5 Deep vein thrombosis Disseminated intravascular coagulation 2 2 SERPINC1 (2), PROC (2) 0.11111 0.22222 1.363e-5 6.626e-5 Internet addiction disorder Language development disorders 3 2 ERBB4 (1), FOXP2 (3), NRXN1 (3) 0.05769 0.11538 1.361e-5 6.626e-5 Pancreatitis Tropical calcific pancreatitis 2 2 CTRC (4), SPINK1 (6) 0.03448 1.00000 1.346e-5 6.566e-5 210 Angioedema Primary adrenal insufficiency 2 0 CUX1 (1), MYL10 (1) 0.03448 1.00000 1.346e-5 6.566e-5 Focal glomerulosclerosis Nephrotic syndrome, steroid-resistant, autosomal recessive 2 0 AXDND1 (1), NPHS2 (1) 0.03448 1.00000 1.346e-5 6.566e-5 20 Hypoxia Sulfur amino acid metabolism disorder 2 2 ADK (2), AHCY (2) 0.05714 0.66667 1.334e-5 6.513e-5 Hypoxia Intestinal perforation 2 2 NOS3 (2), NOS1 (2) 0.05714 0.66667 1.334e-5 6.513e-5 Bouillaud’s disease Bronchitis 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.05714 0.66667 1.334e-5 6.513e-5 1 Cleft lip and palate Cleft lip with or without cleft palate 2 1 CDH1 (1), ARHGAP29 (2) 0.10000 0.33333 1.326e-5 6.474e-5 Cervical disc degenerative disorder Gouty arthritis 2 0 IL1B (1), TGFB1 (1) 0.10000 0.33333 1.326e-5 6.474e-5 289 Cervical disc degenerative disorder Mitochondrial myopathy 2 2 IL1B (2), TNF (2) 0.10000 0.33333 1.326e-5 6.474e-5 Eyelid disease Uterine prolapse 2 0 EFEMP1 (1), PNPT1 (1) 0.10000 0.33333 1.326e-5 6.474e-5 152 Diverticulitis Obstructive sleep apnea syndrome 4 0 JCAD (1), NBEA (1), SLC35F3 (1), LHX8 (1) 0.03774 0.14286 1.322e-5 6.461e-5 Diffuse idiopathic skeletal hyperostosis Facial nerve disorder 2 0 CDC5L (1), SUPT3H (1) 0.11111 0.25000 1.296e-5 6.337e-5 Auricle malformation Testicular hydrocele 2 0 DIPK1A (1), RPL5 (1) 0.11111 0.25000 1.296e-5 6.337e-5 240 B-cell chronic lymphocytic leukemia Melanocytic nevus 2 2 TP53 (2), ATM (2) 0.11111 0.25000 1.296e-5 6.337e-5 Metachromatic leukodystrophy Retinitis pigmentosa-deafness syndrome 2 1 PSAP (5), CDH23 (1) 0.11111 0.25000 1.296e-5 6.337e-5 Retinitis pigmentosa-deafness syndrome Vitreoretinal degeneration 2 0 CDH23 (1), C10orf105 (1) 0.11111 0.25000 1.296e-5 6.337e-5 Hereditary hemolytic anemia Secondary polycythemia 2 2 HBB (3), BPGM (2) 0.11111 0.25000 1.296e-5 6.337e-5 Hypertrichosis Rubinstein-taybi syndrome 2 1 CREBBP (7), ASXL1 (1) 0.11111 0.25000 1.296e-5 6.337e-5 Amnesia Degenerative disorder 3 3 APP (2), IL6 (2), NGF (2) 0.05357 0.16667 1.290e-5 6.317e-5 Gross motor development delay Sotos syndrome 2 1 SCN4A (1), NSD1 (8) 0.09091 0.40000 1.288e-5 6.310e-5 Gross motor development delay Hemiplegic migraine 2 1 CACNA1A (2), WDR45 (1) 0.09091 0.40000 1.288e-5 6.310e-5 Gastrointestinal disease Polycythemia, primary familial and congenital 2 2 SH2B3 (2), JAK2 (2) 0.05882 0.66667 1.254e-5 6.144e-5 Familial polycythemia Gastrointestinal disease 2 2 SH2B3 (2), JAK2 (2) 0.05882 0.66667 1.254e-5 6.144e-5 Gastrointestinal disease Hepatic vein thrombosis 2 2 MTHFR (2), JAK2 (2) 0.05882 0.66667 1.254e-5 6.144e-5 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 5.775e-5 1p36.33 duplication syndrome Pontocerebellar hypoplasia 2 2 ATAD3A (5), ATAD3C (3) 0.06061 0.66667 1.175e-5 5.766e-5 Hepatitis c induced liver cirrhosis Membranous glomerulonephritis 2 0 BTNL2 (1), TSBP1 (1) 0.06061 0.66667 1.175e-5 5.766e-5 1 Malnutrition Neural tube defects, x-linked 2 2 MTHFR (2), CBS (2) 0.06061 0.66667 1.175e-5 5.766e-5 Caudal regression syndrome Neural tube defects, x-linked 2 2 FUZ (2), VANGL1 (2) 0.06061 0.66667 1.175e-5 5.766e-5 Auditory neuropathy Riboflavin transporter deficiency 2 2 SLC52A3 (2), SLC52A2 (2) 0.06061 0.66667 1.175e-5 5.766e-5 Auditory neuropathy Spastic paraplegia, x-linked 2 1 PLP1 (3), RAB9B (1) 0.06061 0.66667 1.175e-5 5.766e-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 5.742e-5 Keratitis Wagr syndrome 2 1 ELP4 (1), PAX6 (6) 0.08000 0.50000 1.167e-5 5.735e-5 Hypotrichosis simplex Peeling skin syndrome 2 1 PSORS1C1 (1), CDSN (7) 0.11111 0.28571 1.167e-5 5.734e-5 Prediabetes Stomach disease 2 2 PTPRN2 (2), GCG (2) 0.11111 0.28571 1.167e-5 5.734e-5 Epidermal nevus Hypophosphatemic rickets 2 1 HRAS (3), LRRC56 (1) 0.11111 0.28571 1.167e-5 5.734e-5 17 Testicular neoplasms Xeroderma pigmentosum 2 2 ERCC1 (2), ERCC4 (7) 0.11111 0.28571 1.167e-5 5.734e-5 Epilepsy with myoclonic atonic seizures Lennox-gastaut syndrome 2 2 CHD2 (3), SCN1A (3) 0.11111 0.28571 1.167e-5 5.734e-5 Absence epilepsy Lennox-gastaut syndrome 2 2 CACNA1A (3), GABRB3 (3) 0.11111 0.28571 1.167e-5 5.734e-5 Angina pectoris Varicose veins 2 1 MMP1 (1), MMP9 (2) 0.11111 0.28571 1.167e-5 5.734e-5 Congenital structural myopathy Tubular aggregate myopathy 2 2 ORAI1 (4), STIM1 (4) 0.11111 0.28571 1.167e-5 5.734e-5 Thyroid disease Thyroid hormone metabolism disorder 2 2 SECISBP2 (5), DIO1 (4) 0.03704 1.00000 1.162e-5 5.724e-5 Congenital cartilage disorder Skeletal dysplasia 3 2 SLC26A2 (2), TRPV4 (1), CHST3 (2) 0.05882 0.13043 1.151e-5 5.670e-5 Ovarian mucinous adenocarcinoma Testicular disease 2 0 INHBB (1), PAX8 (1) 0.10526 0.33333 1.149e-5 5.661e-5 Congenital thyroid atrophy Testicular disease 2 2 PAX8 (2), IGSF1 (2) 0.10526 0.33333 1.149e-5 5.661e-5 102 Congenital hypothyroidism without goiter Testicular disease 2 2 PAX8 (2), IGSF1 (2) 0.10526 0.33333 1.149e-5 5.661e-5 102 Curling ulcer Hyperemia 2 2 PTGS2 (2), NOS2 (2) 0.10526 0.33333 1.149e-5 5.661e-5 Cervical disc degenerative disorder Nephrosclerosis 2 2 TGFB1 (2), COL1A1 (2) 0.10526 0.33333 1.149e-5 5.661e-5 Diabetic cardiomyopathy Pancreatic diseases 2 2 SPP1 (2), LEPR (2) 0.10526 0.33333 1.149e-5 5.661e-5 194 Coffin-siris syndrome Intellectual developmental disorder speech dysmorphic 2 2 SMARCA2 (4), SOX4 (6) 0.09524 0.40000 1.145e-5 5.649e-5 Congenital hemivertebra Micrognathism 2 0 BLTP1 (1), INPP5E (1) 0.09524 0.40000 1.145e-5 5.649e-5 Larsen syndrome Pseudoxanthoma elasticum 2 2 XYLT1 (2), XYLT2 (2) 0.09524 0.40000 1.145e-5 5.649e-5 Eye abnormalities Schizencephaly 2 2 SHH (2), COL4A1 (2) 0.09524 0.40000 1.145e-5 5.649e-5 Amyloidosis Learning disorders 3 3 APP (2), PSEN1 (2), ACHE (2) 0.05660 0.15789 1.108e-5 5.473e-5 Cerebellar atrophy Hydrolethalus syndrome 2 1 HYLS1 (7), PUS3 (1) 0.06250 0.66667 1.100e-5 5.431e-5 Charge syndrome Kabuki syndrome 2 2 KMT2D (8), KDM6A (7) 0.11765 0.22222 1.091e-5 5.390e-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 5.383e-5 1 Anhedonia Dyskinesia 3 1 COMT (1), ATP1A3 (1), DRD2 (2) 0.06000 0.11538 1.083e-5 5.353e-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 5.341e-5 immunodeficiency 104 Severe combined immunodeficiency 2 2 IL7R (3), PTPRC (2) 0.03846 1.00000 1.076e-5 5.319e-5 Muscular dystrophy Sarcoglycanopathies 2 1 SGCA (2), SGCG (1) 0.03846 1.00000 1.076e-5 5.319e-5 131 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 5.319e-5 Partial adenosine deaminase deficiency Severe combined immunodeficiency 2 1 PKIG (1), ADA (7) 0.03846 1.00000 1.076e-5 5.319e-5 Crest syndrome Waldenstrom macroglobulinemia 2 0 EXOC2 (1), IRF4 (1) 0.08333 0.50000 1.061e-5 5.253e-5 Eye disorder Mucositis 2 2 IL1B (2), MTHFR (2) 0.11765 0.25000 1.061e-5 5.252e-5 Charcot-marie-tooth disease, x-linked Deafness, x-linked 2 2 PRPS1 (6), AIFM1 (6) 0.11765 0.25000 1.061e-5 5.252e-5 Angelman syndrome Prader-willi syndrome 2 2 OCA2 (2), SNRPN (6) 0.11765 0.25000 1.061e-5 5.252e-5 Brain atrophy Niemann-pick disease 2 1 ACYP1 (1), NPC2 (8) 0.11765 0.25000 1.061e-5 5.252e-5 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 5.177e-5 Angioedema Thromboembolism 3 2 PLAT (1), F5 (2), F12 (3) 0.04478 0.25000 1.033e-5 5.122e-5 Angioedema Lipoma 3 0 DCLK1 (1), SLC19A2 (1), F5 (1) 0.04478 0.25000 1.033e-5 5.122e-5 Hereditary hearing loss Usher syndrome type 1 2 2 MYO7A (2), USH1C (2) 0.03922 1.00000 1.033e-5 5.122e-5 31 Malignant peripheral nerve sheath tumor Small vessel stroke 2 2 SH3PXD2A (2), HTRA1 (2) 0.03922 1.00000 1.033e-5 5.122e-5 Malignant triton tumor Small vessel stroke 2 2 SH3PXD2A (2), HTRA1 (2) 0.03922 1.00000 1.033e-5 5.122e-5 Retinoschisis Rett syndrome 2 2 CDKL5 (4), RS1 (4) 0.10000 0.40000 1.010e-5 5.015e-5 Congenital hemivertebra Patent ductus arteriosus 2 0 INPP5E (1), LSM1 (1) 0.10000 0.40000 1.010e-5 5.015e-5 Choanal atresia syndrome Male infertility spermatogenesis disorder 2 1 KMT2D (4), CHD7 (1) 0.10000 0.40000 1.010e-5 5.015e-5 Generalized epilepsy with febrile seizures plus Hemiplegic migraine 2 2 SCN1A (8), PRRT2 (2) 0.10000 0.40000 1.010e-5 5.015e-5 Catalepsy Constipation 2 2 GCG (2), POMC (2) 0.10000 0.40000 1.010e-5 5.015e-5 Congenital fibrosis of extraocular muscles Congenital ptosis 2 1 COL25A1 (2), MYH10 (1) 0.10000 0.40000 1.010e-5 5.015e-5 Basal ganglia disease Pituitary neoplasms 2 2 PRL (2), DRD2 (2) 0.11111 0.33333 9.851e-6 4.896e-5 Carotid artery thrombosis Platelet disorder 2 2 ITGB3 (2), STXBP2 (2) 0.11111 0.33333 9.851e-6 4.896e-5 67 Focal cortical dysplasia Infantile spasms 2 2 TSC2 (3), TSC1 (3) 0.11765 0.28571 9.724e-6 4.835e-5 Epidermal nevus Melanocytic nevus 2 2 NRAS (4), HRAS (4) 0.11765 0.28571 9.724e-6 4.835e-5 17 Testicular hydrocele Thyroid dyshormonogenesis 2 2 TG (5), SLA (2) 0.11765 0.28571 9.724e-6 4.835e-5 Autoimmune lymphoproliferative disorder Epidermal nevus 2 2 KRAS (2), NRAS (3) 0.11765 0.28571 9.724e-6 4.835e-5 17 Central precocious puberty Vogt-koyanagi-harada disease 2 0 C1orf141 (1), IL23R (1) 0.11765 0.28571 9.724e-6 4.835e-5 Congenital lactic acidosis Cytochrome c oxidase deficiency 2 2 LRPPRC (4), PET100 (2) 0.08696 0.50000 9.602e-6 4.780e-5 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 4.738e-5 Sickle cell anemia Systemic mastocytosis 3 2 HBE1 (2), HBG2 (2), OR51B5 (1) 0.06122 0.13043 9.307e-6 4.635e-5 237 Clear cell renal cell carcinoma Lipoma 3 0 TERT (1), STN1 (1), ACTRT3 (1) 0.04615 0.25000 9.273e-6 4.620e-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 4.556e-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 4.423e-5 Hematologic neoplasms Secondary parkinson disease 2 2 PON1 (2), ABCB1 (2) 0.10526 0.40000 8.843e-6 4.408e-5 Aortic rupture Intracranial aneurysm 2 2 MMP9 (2), MMP2 (2) 0.10526 0.40000 8.843e-6 4.408e-5 Cerebral palsy Cerebral small vessel disease 2 1 COL4A2 (2), COL4A1 (1) 0.04255 1.00000 8.731e-6 4.355e-5 33 Cerebral palsy Vascular leukoencephalopathy 2 2 COL4A2 (2), COL4A1 (2) 0.04255 1.00000 8.731e-6 4.355e-5 33 Cerebral palsy Congenital porencephaly 2 0 COL4A2 (1), COL4A1 (1) 0.04255 1.00000 8.731e-6 4.355e-5 33 Cerebral palsy Posttraumatic porencephalic cyst of brain 2 0 COL4A2 (1), COL4A1 (1) 0.04255 1.00000 8.731e-6 4.355e-5 33 Aortic disease Ureteral calculi 2 2 CAT (2), SOD1 (2) 0.09091 0.50000 8.642e-6 4.315e-5 294 Discordant ventriculoarterial connection Down syndrome 2 2 MTHFR (2), SLC19A1 (2) 0.09091 0.50000 8.642e-6 4.315e-5 56 Down syndrome Neural tube defects, folate-sensitive 2 2 MTHFR (3), MTHFD1 (2) 0.09091 0.50000 8.642e-6 4.315e-5 Dravet syndrome Epilepsy of infancy with migrating focal seizures 2 2 SCN1A (4), SCN2A (2) 0.12500 0.25000 8.488e-6 4.241e-5 Charge syndrome Rubinstein-taybi syndrome 2 1 KMT2D (1), EP300 (6) 0.12500 0.25000 8.488e-6 4.241e-5 Benign pemphigus Ruptured abdominal aortic aneurysm 2 0 ELN (1), EFEMP2 (1) 0.12500 0.25000 8.488e-6 4.241e-5 Darier disease Ruptured abdominal aortic aneurysm 2 0 ELN (1), EFEMP2 (1) 0.12500 0.25000 8.488e-6 4.241e-5 Imperforate anus Penile hypospadia 2 0 GABRG3 (1), TBXAS1 (1) 0.12500 0.25000 8.488e-6 4.241e-5 111 Kabuki syndrome Rubinstein-taybi syndrome 2 1 KMT2D (8), KMT2A (1) 0.12500 0.25000 8.488e-6 4.241e-5 Hoyeraal hreidarsson syndrome Thyroid carcinoma 2 2 POT1 (2), TINF2 (3) 0.12500 0.25000 8.488e-6 4.241e-5 Exudative vitreoretinopathy Osteosclerosis 2 2 CTNNB1 (4), LRP5 (6) 0.12500 0.25000 8.488e-6 4.241e-5 Exudative vitreoretinopathy Vitreoretinal degeneration 2 2 LRP5 (5), TSPAN12 (5) 0.12500 0.25000 8.488e-6 4.241e-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 4.204e-5 Dilatation of pulmonary artery Pulmonary arterial hypertension 2 2 FBN1 (2), BMPR2 (5) 0.04348 1.00000 8.352e-6 4.182e-5 Ovarian agenesis Pulmonary arterial hypertension 2 0 DIPK1A (1), RPL5 (1) 0.04348 1.00000 8.352e-6 4.182e-5 Curling ulcer Papilloma 2 2 PTGS2 (2), TGFB1 (2) 0.11765 0.33333 8.337e-6 4.177e-5 Intestinal polyps Papilloma 2 0 PTGS2 (1), CCND1 (1) 0.11765 0.33333 8.337e-6 4.177e-5 Hemolysis Paralysis 2 0 SOD1 (1), ATP7A (1) 0.11765 0.33333 8.337e-6 4.177e-5 Contracture of multiple joints Fetal akinesia deformation sequence 2 2 MAGEL2 (2), GLDN (2) 0.11765 0.33333 8.337e-6 4.177e-5 Skin ulcer Tonic-clonic epilepsy 2 2 NGF (2), FGF2 (2) 0.11765 0.33333 8.337e-6 4.177e-5 142 Cervical disc degenerative disorder Trigeminal neuralgia 2 2 IL1B (2), TNF (2) 0.11765 0.33333 8.337e-6 4.177e-5 289 Cockayne syndrome Xeroderma pigmentosum 2 2 ERCC1 (3), ERCC4 (7) 0.11765 0.33333 8.337e-6 4.177e-5 Diabetes complications Diabetes microvascular complications 2 2 VEGFA (3), PON1 (3) 0.11765 0.33333 8.337e-6 4.177e-5 Chagas cardiomyopathy Obstructive sleep apnea syndrome 4 0 NRG1 (1), TBX15 (1), IZUMO1R (1), GPR83 (1) 0.03883 0.16000 8.264e-6 4.148e-5 Pancreatic ductal carcinoma Splenomegaly 3 0 NOTCH1 (1), NFE2L2 (1), KRAS (1) 0.06122 0.15000 8.230e-6 4.132e-5 Hyperplasia Oral submucous fibrosis 3 3 PTGS2 (2), TGFB1 (2), MMP9 (2) 0.06122 0.15000 8.230e-6 4.132e-5 Beta-hydroxyisobutyryl-coa deacylase deficiency Leukodystrophy 2 0 AIFM1 (1), RAB33A (1) 0.07143 0.66667 8.216e-6 4.128e-5 Arthritis Bouillaud’s disease 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.07143 0.66667 8.216e-6 4.128e-5 1 Amino acid metabolism disorder S-adenosylhomocysteine hydrolase deficiency 2 2 AHCY (3), MAT1A (2) 0.07143 0.66667 8.216e-6 4.128e-5 112 Amino acid metabolism disorder Hepatic methionine adenosyltransferase deficiency 2 2 AHCY (2), MAT1A (3) 0.07143 0.66667 8.216e-6 4.128e-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 4.128e-5 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 4.123e-5 Polymyositis Scleroderma 3 3 TNF (2), HLA-DQB1 (2), STAT4 (2) 0.06250 0.13636 8.103e-6 4.077e-5 22 Ehlers-danlos syndrome Periodontal ehlers-danlos syndrome 2 2 C1S (7), C1R (6) 0.04444 1.00000 7.980e-6 4.016e-5 Usher syndrome Usher syndrome type 1 2 2 MYO7A (7), USH1C (7) 0.04444 1.00000 7.980e-6 4.016e-5 31 Dermatosparaxis ehlers-danlos syndrome Ehlers-danlos syndrome 2 2 ADAMTS2 (6), ADAMTSL2 (3) 0.04444 1.00000 7.980e-6 4.016e-5 Cone rod dystrophy and hearing loss Usher syndrome 2 2 CEP78 (7), CEP250 (5) 0.04444 1.00000 7.980e-6 4.016e-5 Diabetes mellitus ketosis prone monogenic diabetes 2 2 INS (2), HNF1A (2) 0.12500 0.28571 7.958e-6 4.008e-5 Beckwith-wiedemann syndrome Russell-silver syndrome 2 2 IGF2 (5), CDKN1C (8) 0.12500 0.28571 7.958e-6 4.008e-5 323 Carbohydrate metabolism disease Prediabetes 2 0 HK1 (1), GCK (1) 0.12500 0.28571 7.958e-6 4.008e-5 Porphyria Porphyria cutanea tarda 2 2 ALAD (6), UROD (5) 0.12500 0.28571 7.958e-6 4.008e-5 Generalized lipodystrophy Partial lipodystrophy 2 1 PPARG (1), CAV1 (3) 0.12500 0.28571 7.958e-6 4.008e-5 79 Brain edema Intracranial vasospasm 2 2 S100B (2), PLAT (2) 0.12500 0.28571 7.958e-6 4.008e-5 Osteolysis Vascular system injury 2 0 SPP1 (1), TNF (1) 0.12500 0.28571 7.958e-6 4.008e-5 Megacystis microcolon intestinal hypoperistalsis syndrome Tricuspid valve disease 2 1 MYH11 (5), NDE1 (1) 0.12500 0.28571 7.958e-6 4.008e-5 426 Hepatic veno occlusive disease Keratosis 2 0 ASIP (1), GSTM1 (1) 0.12500 0.28571 7.958e-6 4.008e-5 Hereditary hemochromatosis Iron deficiency anemia 2 1 HFE (1), TF (2) 0.12500 0.28571 7.958e-6 4.008e-5 Osteonecrosis of the femoral head Thromboembolism 3 3 F2 (2), PLAT (2), F5 (2) 0.04839 0.25000 7.822e-6 3.949e-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 3.941e-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 3.941e-5 124 Demyelinating diseases Osteosarcoma 3 3 TP53 (3), SIRT1 (2), MYC (2) 0.04545 0.27273 7.771e-6 3.926e-5 Combined immunodeficiency disease Lymphoproliferative syndrome 3 3 CD70 (2), ITK (6), CD27 (5) 0.05357 0.21429 7.752e-6 3.918e-5 Amnesia Diabetes insipidus 2 2 AVP (2), POMC (2) 0.09524 0.50000 7.733e-6 3.909e-5 autosomal recessive primary microcephaly Seckel syndrome 2 2 CENPE (4), CDK5RAP2 (2) 0.09524 0.50000 7.733e-6 3.909e-5 Anti-glomerular basement membrane disease Giant cell arteritis 2 1 HLA-DRB1 (2), FCGR3A (1) 0.09524 0.50000 7.733e-6 3.909e-5 Hematologic disease Neural tube defects, folate-sensitive 2 2 MTHFR (3), MTR (3) 0.09524 0.50000 7.733e-6 3.909e-5 Avascular necrosis of femoral head Spondyloepimetaphyseal dysplasia 2 2 COL2A1 (5), TRPV4 (5) 0.07407 0.66667 7.585e-6 3.838e-5 Brachyolmia Spondyloepimetaphyseal dysplasia 2 2 TRPV4 (7), PAPSS2 (6) 0.07407 0.66667 7.585e-6 3.838e-5 Congenital nasopharyngeal atresia Situs inversus 3 0 DNAH5 (1), DNAH11 (1), DNAAF19 (1) 0.06250 0.15000 7.440e-6 3.766e-5 Esophageal adenocarcinoma Peptic ulcer disease 5 0 BCL3 (1), FOXP1 (1), BARX1 (1), SLC22A3 (1), TPPP (1) 0.03289 0.14286 7.413e-6 3.754e-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 3.732e-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 3.732e-5 73 Hemangiosarcoma Temporal lobe epilepsy 3 3 VEGFA (2), TEK (2), KDR (2) 0.06122 0.16667 7.159e-6 3.628e-5 Benign prostatic hyperplasia Toxic nodular goiter 3 0 TERT (1), SLK (1), STN1 (1) 0.06000 0.17647 7.158e-6 3.628e-5 Diabetic ketoacidosis Neonatal diabetes mellitus 3 3 INS (3), INS-IGF2 (2), SLC2A2 (3) 0.06000 0.17647 7.158e-6 3.628e-5 35 Clear cell renal cell carcinoma Thyroid cancer 4 0 TERT (1), SLK (1), STN1 (1), CNEP1R1 (1) 0.04598 0.11429 7.025e-6 3.562e-5 Essential thrombocythemia Myelodysplastic syndrome 3 3 TP53 (3), TET2 (5), JAK2 (4) 0.05263 0.23077 6.988e-6 3.545e-5 98 Hemorrhage Warfarin sensitivity 2 0 NQO1 (1), CYP2C9 (1) 0.07692 0.66667 6.978e-6 3.540e-5 Mitochondrial hepatopathy Polyneuropathy 2 0 POLG (1), POLGARF (1) 0.07692 0.66667 6.978e-6 3.540e-5 Meningioma Schwannomatosis 2 2 SMARCB1 (4), NF2 (5) 0.07692 0.66667 6.978e-6 3.540e-5 Blood coagulation disorder Combined deficiency of vitamin k-dependent clotting factors 2 2 VKORC1 (5), GGCX (6) 0.07692 0.66667 6.978e-6 3.540e-5 Becker muscular dystrophy Conduction disorder of the heart 2 1 DMD (4), PKP2 (1) 0.07692 0.66667 6.978e-6 3.540e-5 Arthrogryposis Digitotalar dysmorphism 2 1 MYH3 (1), TPM2 (2) 0.12500 0.33333 6.949e-6 3.530e-5 258 Cushing's disease Penile disease 2 2 ATRX (2), POMC (2) 0.12500 0.33333 6.949e-6 3.530e-5 Ductal carcinoma Lobular carcinoma 2 0 CDH1 (1), STAT5A (1) 0.12500 0.33333 6.949e-6 3.530e-5 Cardiovascular abnormalities Vascular remodeling 2 2 GATA2 (2), AGT (2) 0.12500 0.33333 6.949e-6 3.530e-5 126 Ovarian mucinous adenocarcinoma Testicular hydrocele 2 0 INHBB (1), PAX8 (1) 0.12500 0.33333 6.949e-6 3.530e-5 Infantile spasms Tuberous sclerosis complex 2 2 TSC2 (7), TSC1 (7) 0.12500 0.33333 6.949e-6 3.530e-5 Cervical intraepithelial neoplasia Gastroparesis 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.12500 0.33333 6.949e-6 3.530e-5 1 Congenital fusion of ribs Micrognathism 2 0 RAB5IF (1), TGIF2-RAB5IF (1) 0.10000 0.50000 6.875e-6 3.498e-5 Hodgkin disease Hyper-immunoglobulin m syndrome 2 2 CD40LG (2), CD40 (2) 0.10000 0.50000 6.875e-6 3.498e-5 Bronchiectasis Extrinsic allergic alveolitis 2 1 TNF (2), TAP1 (1) 0.10000 0.50000 6.875e-6 3.498e-5 Heart valve prolapse Oral submucous fibrosis 3 3 COL1A1 (2), TIMP1 (2), COL1A2 (2) 0.06383 0.15000 6.701e-6 3.412e-5 B-cell chronic lymphocytic leukemia Urologic neoplasms 2 2 TP53 (2), CCND1 (2) 0.13333 0.25000 6.603e-6 3.363e-5 88 Accessory skin tag Ruptured abdominal aortic aneurysm 2 0 ELN (1), EFEMP2 (1) 0.13333 0.25000 6.603e-6 3.363e-5 Huntington disease Hypotension 5 5 GRIN2B (2), MAOA (2), MAOB (2), IL6 (2), CNR1 (2) 0.04032 0.08197 6.604e-6 3.363e-5 Nephronophthisis Nephronophthisis-like nephropathy 2 2 XPNPEP3 (6), SLC41A1 (4) 0.04878 1.00000 6.580e-6 3.354e-5 Congenital hemangioma Uveal melanoma 2 2 GNA11 (2), GNAQ (3) 0.04878 1.00000 6.580e-6 3.354e-5 Cutis marmorata telangiectatica congenita Uveal melanoma 2 2 GNA11 (3), ARL6IP6 (2) 0.04878 1.00000 6.580e-6 3.354e-5 Ataxia, spastic, autosomal dominant Myasthenic syndrome 2 1 TAPBPL (1), VAMP1 (5) 0.04878 1.00000 6.580e-6 3.354e-5 5 Arachnodactyly Byzanthine arch palate 2 1 FBN1 (2), NSDHL (1) 0.11765 0.40000 6.571e-6 3.352e-5 398 Bronchopulmonary dysplasia Senile cataract 3 0 GSTP1 (1), GSTT1 (1), GSTM1 (1) 0.05357 0.23077 6.536e-6 3.335e-5 Gastrointestinal disease Hematologic disease 3 2 MTHFR (2), JAK2 (1), MTR (2) 0.06250 0.16667 6.513e-6 3.325e-5 Diffuse cutaneous systemic sclerosis MHC class I deficiency 2 2 TAP2 (2), TAP1 (2) 0.08000 0.66667 6.397e-6 3.266e-5 Congenital clubfoot Neuropathic spinal arthropathy 2 0 COL5A1 (1), KAT6B (1) 0.08000 0.66667 6.397e-6 3.266e-5 Osteosarcoma Sarcoma 4 1 TP53 (3), GSTP1 (1), SOX2 (1), BCOR (1) 0.04598 0.12121 6.373e-6 3.256e-5 4 Central nervous system non-hodgkin lymphoma Pulmonary alveolar proteinosis 2 1 HLA-DRB1 (2), HLA-DRB5 (1) 0.13333 0.28571 6.368e-6 3.254e-5 Congenital arteriovenous malformation Congenital venous anomaly 2 0 EPHB4 (1), TEK (1) 0.13333 0.28571 6.368e-6 3.254e-5 Congenital deformity of clavicle Congenital joint contractures 2 0 GLDN (1), NEK9 (1) 0.13333 0.28571 6.368e-6 3.254e-5 61 Congenital deformity of elbow Congenital joint contractures 2 0 GLDN (1), NEK9 (1) 0.13333 0.28571 6.368e-6 3.254e-5 61 Congenital deformity of forearm Congenital joint contractures 2 0 GLDN (1), NEK9 (1) 0.13333 0.28571 6.368e-6 3.254e-5 61 Cowden disease Hemimegalencephaly 2 2 PTEN (5), PIK3CA (7) 0.13333 0.28571 6.368e-6 3.254e-5 Carney complex Cowden disease 2 2 SDHB (3), SDHC (3) 0.13333 0.28571 6.368e-6 3.254e-5 78 Coronary restenosis Heart valve disease 3 3 ACE (2), SPP1 (2), ITGB2 (2) 0.05660 0.21429 6.250e-6 3.199e-5 Neurodegeneration with brain iron accumulation Neurodegenerative disorder 3 3 FTL (3), PANK2 (3), FTH1 (6) 0.05660 0.21429 6.250e-6 3.199e-5 Necrosis Vascular dementia 6 6 APP (2), MGMT (2), LPL (2), MTHFR (2), PRNP (2), TNF (2) 0.03371 0.10909 6.092e-6 3.119e-5 Autoimmune polyendocrine syndrome Thyroiditis 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.10526 0.50000 6.066e-6 3.107e-5 1 Oropharyngeal neoplasms Thyroiditis 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.10526 0.50000 6.066e-6 3.107e-5 1 Developmental venous anomaly Hydrops fetalis 2 0 RASA1 (1), CCNH (1) 0.10526 0.50000 6.066e-6 3.107e-5 Intestinal pseudo-obstruction Patent ductus arteriosus 2 1 TFAP2B (4), MYH11 (1) 0.10526 0.50000 6.066e-6 3.107e-5 Carney-stratakis syndrome Pheochromocytoma 2 2 SDHB (5), SDHD (5) 0.10526 0.50000 6.066e-6 3.107e-5 78 Pheochromocytoma Von hippel-lindau syndrome 2 2 SDHB (2), VHL (7) 0.10526 0.50000 6.066e-6 3.107e-5 Autoimmune polyendocrine syndrome Lymphedema 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.10526 0.50000 6.066e-6 3.107e-5 1 Brain stem neoplasms Breast neoplasms 2 0 CDK6 (1), CDK4 (1) 0.10526 0.50000 6.066e-6 3.107e-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 3.107e-5 Anterior polar cataract Congenital total cataract 2 2 CRYAA (3), CRYGB (3) 0.10526 0.50000 6.066e-6 3.107e-5 51 Cardiofacial dysplasia Cholangiocarcinoma 2 2 PRKACB (5), PRKACA (5) 0.05128 1.00000 5.930e-6 3.045e-5 Colobomatous optic disc macular atrophy chorioretinopathy syndrome Microphthalmia 2 1 SIX6 (6), C14orf39 (1) 0.05128 1.00000 5.930e-6 3.045e-5 52 Microphthalmia Microphthalmia with retinitis pigmentosa and ocular anomalies 2 1 MFRP (4), C1QTNF5 (1) 0.05128 1.00000 5.930e-6 3.045e-5 52 Cholangiocarcinoma Hepatic veno occlusive disease with immunodeficiency 2 2 SP140 (2), SP110 (7) 0.05128 1.00000 5.930e-6 3.045e-5 Limb girdle muscular dystrophy Sarcoglycanopathies 2 2 SGCA (5), SGCG (6) 0.05128 1.00000 5.930e-6 3.045e-5 131 Carcinogenesis Pancreatic ductal carcinoma 3 0 NFE2L2 (1), KRAS (1), CDKN2A (1) 0.06383 0.16667 5.907e-6 3.037e-5 Mucopolysaccharidosis Pfaundler-hurler syndrome 2 1 IDUA (5), SLC26A1 (1) 0.08333 0.66667 5.841e-6 3.003e-5 Benign mucous membrane pemphigoid with ocular involvement Gastritis 2 1 HLA-DRB1 (1), HLA-DQB1 (2) 0.08333 0.66667 5.841e-6 3.003e-5 1 Bouillaud’s disease Gastritis 2 1 HLA-DRB1 (1), HLA-DQB1 (2) 0.08333 0.66667 5.841e-6 3.003e-5 1 Acute disseminated encephalomyelitis Gastritis 2 1 HLA-DRB1 (1), HLA-DQB1 (2) 0.08333 0.66667 5.841e-6 3.003e-5 1 Benign mucous membrane pemphigoid Gastritis 2 1 HLA-DRB1 (1), HLA-DQB1 (2) 0.08333 0.66667 5.841e-6 3.003e-5 1 Bouillaud’s disease Sinusitis 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.08333 0.66667 5.841e-6 3.003e-5 1 Sinusitis Skeletal system disease 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.08333 0.66667 5.841e-6 3.003e-5 1 Sinusitis Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.08333 0.66667 5.841e-6 3.003e-5 1 Sebaceous gland disease Uveal melanoma 3 0 HERC2 (1), IRF4 (1), CLPTM1L (1) 0.05769 0.21429 5.795e-6 2.986e-5 263 Degenerative disorder Neurodegeneration with brain iron accumulation 3 3 FTL (3), PANK2 (3), FTH1 (5) 0.05769 0.21429 5.795e-6 2.986e-5 Delirium Pituitary neoplasms 2 2 IGF1 (2), DRD2 (2) 0.13333 0.33333 5.686e-6 2.931e-5 118 Angelman syndrome Cyclin-dependent kinase-like 5 deficiency 2 1 CDKL5 (3), MECP2 (1) 0.13333 0.33333 5.686e-6 2.931e-5 55 Berardinelli-seip congenital lipodystrophy Partial lipodystrophy 2 1 PPARG (1), CAV1 (3) 0.13333 0.33333 5.686e-6 2.931e-5 79 Berylliosis Cervical disc degenerative disorder 2 2 TNF (2), TGFB1 (2) 0.13333 0.33333 5.686e-6 2.931e-5 289 Axenfeld-rieger syndrome Tooth abnormalities 2 1 PAX6 (1), PITX2 (6) 0.13333 0.33333 5.686e-6 2.931e-5 Pancreatic diseases Vascular system injury 2 0 SPP1 (1), HMOX1 (1) 0.13333 0.33333 5.686e-6 2.931e-5 194 Hemolysis Vascular system injury 2 0 HMOX1 (1), ATP7A (1) 0.13333 0.33333 5.686e-6 2.931e-5 194 Erythropoietic protoporphyria Porphyria 2 2 ALAS2 (3), FECH (8) 0.13333 0.33333 5.686e-6 2.931e-5 Cervical intraepithelial neoplasia Head and neck cancer 2 0 HLA-DQB1 (1), CLPTM1L (1) 0.13333 0.33333 5.686e-6 2.931e-5 1 Noonan syndrome Noonan syndrome-like disorder with loose anagen hair 2 2 SHOC2 (7), PPP1CB (6) 0.05263 1.00000 5.618e-6 2.903e-5 49 Fanconi-bickel syndrome Glycogen storage disease 2 2 LDHA (5), SLC2A2 (5) 0.05263 1.00000 5.618e-6 2.903e-5 Autoinflammatory syndrome X-linked lymphoproliferative syndrome 2 2 XIAP (5), SH2D1A (5) 0.05263 1.00000 5.618e-6 2.903e-5 Diamond-blackfan anemia Ovarian agenesis 2 1 DIPK1A (1), RPL5 (7) 0.05263 1.00000 5.618e-6 2.903e-5 240 Diamond-blackfan anemia Erythroid hypoplasia 2 1 DIPK1A (1), RPL5 (7) 0.05263 1.00000 5.618e-6 2.903e-5 240 Angioedema Thrombophilia 4 3 PLAT (4), SLC19A2 (1), F5 (6), PLG (4) 0.04651 0.12500 5.616e-6 2.903e-5 Alcoholic hepatitis Angina pectoris 2 0 TNF (1), CXCL8 (1) 0.12500 0.40000 5.560e-6 2.877e-5 43 Congenital stationary night blindness Ocular albinism 2 1 CACNA1F (2), CABP4 (1) 0.12500 0.40000 5.560e-6 2.877e-5 Alcoholic hepatitis Cachexia 2 0 TNF (1), CXCL8 (1) 0.12500 0.40000 5.560e-6 2.877e-5 43 Congenital aneurysm of ascending aorta Visceral myopathy 2 1 MYH11 (4), MYLK (1) 0.12500 0.40000 5.560e-6 2.877e-5 familial thoracic aortic aneurysm and aortic dissection Visceral myopathy 2 2 MYH11 (5), MYLK (2) 0.12500 0.40000 5.560e-6 2.877e-5 Hemiplegic migraine Lennox-gastaut syndrome 2 2 CACNA1A (3), SCN1A (3) 0.12500 0.40000 5.560e-6 2.877e-5 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 2.818e-5 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 2.754e-5 286 Esophageal varices Portal hypertension 2 0 PNPLA3 (1), HAPLN4 (1) 0.11111 0.50000 5.309e-6 2.753e-5 Craniofacial microsomia Hemifacial microsomia 2 2 FOXI3 (4), SF3B2 (3) 0.11111 0.50000 5.309e-6 2.753e-5 Brachydactyly Synpolydactyly 2 1 HOXD13 (7), CHST11 (1) 0.08696 0.66667 5.310e-6 2.753e-5 111 Right atrial isomerism Situs ambiguus 2 1 CERS1 (1), GDF1 (3) 0.08696 0.66667 5.310e-6 2.753e-5 Hypospadias Raynaud disease 3 2 GSTT1 (2), GSTM1 (2), ZFHX3 (1) 0.05660 0.23077 5.295e-6 2.748e-5 23 Brain disease Occupational disease 3 3 MPO (2), ALB (2), TGFB1 (2) 0.05660 0.23077 5.295e-6 2.748e-5 Mastocytosis Secondary malignant neoplasm 3 0 HBE1 (1), HBG2 (1), OR51B5 (1) 0.06667 0.15789 5.117e-6 2.657e-5 237 Secondary malignant neoplasm Sickle cell anemia 3 2 HBE1 (2), HBG2 (2), OR51B5 (1) 0.06667 0.15789 5.117e-6 2.657e-5 237 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 2.648e-5 Congenital clubfoot Skeletal dysplasia 3 0 COL5A1 (1), TRPV4 (1), INPP5E (1) 0.06818 0.13043 5.056e-6 2.627e-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 2.627e-5 Meningioma Nasopharyngeal carcinoma 3 3 PTEN (2), PIK3CA (2), BAP1 (2) 0.06818 0.13636 5.025e-6 2.612e-5 Benign prostatic hyperplasia Cervical polyp 2 0 IRAK1BP1 (1), MEI4 (1) 0.05556 1.00000 5.019e-6 2.610e-5 138 Breast disease Congenital hand deformities 2 2 TP63 (2), PTHLH (2) 0.14286 0.28571 4.954e-6 2.576e-5 30 Capillary malformation-arteriovenous malformation Congenital venous anomaly 2 1 EPHB4 (5), KRAS (1) 0.14286 0.28571 4.954e-6 2.576e-5 Cryptogenic west syndrome Focal cortical dysplasia 2 2 TSC2 (3), TSC1 (3) 0.14286 0.28571 4.954e-6 2.576e-5 Klippel-feil syndrome Spondylocostal dysostosis 2 1 RIPPLY2 (7), RIPPLY2-CYB5R4 (1) 0.14286 0.28571 4.954e-6 2.576e-5 Extravasation of diagnostic and therapeutic materials Occupational dermatitis 2 2 KNG1 (2), BDKRB2 (2) 0.14286 0.28571 4.954e-6 2.576e-5 Ruptured abdominal aortic aneurysm Varicose veins 2 0 ELN (1), MMP9 (1) 0.14286 0.28571 4.954e-6 2.576e-5 64 Ruptured aortic aneurysm Varicose veins 2 0 ELN (1), MMP9 (1) 0.14286 0.28571 4.954e-6 2.576e-5 64 Ruptured thoracic aortic aneurysm Varicose veins 2 0 ELN (1), MMP9 (1) 0.14286 0.28571 4.954e-6 2.576e-5 64 Thoracoabdominal aortic aneurysm Varicose veins 2 0 ELN (1), MMP9 (1) 0.14286 0.28571 4.954e-6 2.576e-5 64 Prader-willi syndrome Skin hair eye pigmentation variation 2 2 HERC2 (4), OCA2 (3) 0.14286 0.28571 4.954e-6 2.576e-5 302 Hepatic veno occlusive disease Mucositis 2 2 MTHFR (2), CSF3 (2) 0.14286 0.28571 4.954e-6 2.576e-5 Capillary malformation-arteriovenous malformation Hereditary hemorrhagic telangiectasia 2 1 RASA1 (6), CCNH (1) 0.14286 0.28571 4.954e-6 2.576e-5 65 Klippel-trenaunay syndrome Rubinstein-taybi syndrome 2 0 DLX5 (1), SMOC1 (1) 0.14286 0.28571 4.954e-6 2.576e-5 Coffin-siris syndrome Pituitary stalk interruption syndrome 3 3 ARID1B (7), SMARCA2 (2), SOX11 (4) 0.06522 0.17647 4.929e-6 2.572e-5 Hyperkinesia Seasonal affective disorder 3 3 NPY (2), HTR2A (2), HTR2C (2) 0.06383 0.18750 4.928e-6 2.572e-5 Gliosarcoma Transitional cell carcinoma 3 3 FGFR3 (2), TP53 (2), TACC3 (2) 0.06383 0.18750 4.928e-6 2.572e-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 2.572e-5 Amyloid neuropathy Splenomegaly 2 2 APP (2), PSEN1 (2) 0.09091 0.66667 4.805e-6 2.509e-5 Schimmelpenning-feuerstein-mims syndrome Splenomegaly 2 2 KRAS (2), NRAS (2) 0.09091 0.66667 4.805e-6 2.509e-5 17 Hoarding disorder Pericardium disorder 2 0 LRRC3B (1), NEK10 (1) 0.09091 0.66667 4.805e-6 2.509e-5 279 Dandy-walker syndrome Hydrolethalus syndrome 2 1 HYLS1 (7), PUS3 (1) 0.09091 0.66667 4.805e-6 2.509e-5 Dandy-walker syndrome Hydrocephalus 3 0 PDGFRB (1), BLTP1 (1), DPH1 (1) 0.06818 0.15000 4.780e-6 2.499e-5 Retinopathy of prematurity Urethral obstruction 3 3 AGT (2), SERPINE1 (2), NOS3 (2) 0.06818 0.15000 4.780e-6 2.499e-5 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 2.428e-5 304 Arthrogryposis Sheldon-hall syndrome 2 2 MYH3 (2), TPM2 (3) 0.13333 0.40000 4.634e-6 2.425e-5 258 Bernard-soulier syndrome Macrothrombocytopenia 2 2 GP1BB (7), GP1BA (8) 0.13333 0.40000 4.634e-6 2.425e-5 Trichothiodystrophy Xeroderma pigmentosum-cockayne syndrome 2 2 ERCC2 (5), ERCC3 (7) 0.13333 0.40000 4.634e-6 2.425e-5 113 Macrocytic anemia Pancytopenia 2 0 RPL17 (1), RPL17-C18orf32 (1) 0.11765 0.50000 4.601e-6 2.409e-5 Anti-glomerular basement membrane disease Granulomatosis with polyangiitis 2 2 HLA-DPB1 (3), CTLA4 (2) 0.11765 0.50000 4.601e-6 2.409e-5 Bestrophinopathy Neurodegeneration with brain iron accumulation 2 2 BEST1 (7), FTH1 (5) 0.11765 0.50000 4.601e-6 2.409e-5 Bicuspid aortic valve Keratosis palmoplantaris striata 2 2 DSP (5), DSG1 (2) 0.11765 0.50000 4.601e-6 2.409e-5 Bronchial hyperreactivity Overactive bladder 2 2 NGF (2), TRPA1 (2) 0.11765 0.50000 4.601e-6 2.409e-5 Autoimmune polyendocrine syndrome Cartilage disease 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.11765 0.50000 4.601e-6 2.409e-5 1 Congenital epicanthus Macrocytic anemia 2 0 RPL17 (1), RPL17-C18orf32 (1) 0.11765 0.50000 4.601e-6 2.409e-5 Cleft palate and bilateral cleft lip Congenital fusion of ribs 2 0 RAB5IF (1), TGIF2-RAB5IF (1) 0.11765 0.50000 4.601e-6 2.409e-5 Bestrophinopathy Distal myopathy 2 2 BEST1 (7), PRPH2 (2) 0.11765 0.50000 4.601e-6 2.409e-5 Diamond-blackfan anemia Pancytopenia 3 3 IKZF1 (4), EPO (4), RPL17 (2) 0.06122 0.21429 4.565e-6 2.396e-5 Kidney neoplasms Optic neuritis 3 3 ATP7B (2), GSTT1 (2), SOD2 (2) 0.05882 0.23077 4.562e-6 2.395e-5 Curling ulcer Hepatic insufficiency 2 2 TGFB1 (2), NOS2 (2) 0.14286 0.33333 4.550e-6 2.389e-5 Hypercalciuria Hypocalcemia 2 2 POMC (2), PTH (2) 0.14286 0.33333 4.550e-6 2.389e-5 Hyperproinsulinemia Pituitary neoplasms 2 2 PRL (2), DRD2 (2) 0.14286 0.33333 4.550e-6 2.389e-5 118 Benign infantile epilepsy Epilepsy of infancy with migrating focal seizures 2 2 KCNQ2 (3), SCN2A (3) 0.14286 0.33333 4.550e-6 2.389e-5 Benign infantile epilepsy Malignant migrating partial seizures of infancy 2 2 KCNQ2 (3), SCN2A (2) 0.14286 0.33333 4.550e-6 2.389e-5 Congenital joint contractures Contracture of multiple joints 2 0 COL6A3 (1), GLDN (1) 0.14286 0.33333 4.550e-6 2.389e-5 Cataract-microcornea syndrome Sutural cataract 2 2 CRYBB2 (3), GJA8 (4) 0.14286 0.33333 4.550e-6 2.389e-5 51 Peeling skin syndrome with leukonychia and acral punctate keratoses Uveitis 2 2 CAST (7), ERAP1 (2) 0.05882 1.00000 4.454e-6 2.343e-5 Hypercapnia Hypoxia 2 0 PDYN (1), NPPA (1) 0.05882 1.00000 4.454e-6 2.343e-5 Leukemia Lipoma 3 0 PTEN (1), BAP1 (1), ACTRT3 (1) 0.05660 0.25000 4.385e-6 2.308e-5 Erythromelalgia Hereditary sensory and autonomic neuropathy 2 2 SCN11A (6), SCN9A (6) 0.09524 0.66667 4.324e-6 2.276e-5 Hyperparathyroidism Hypoparathyroidism 2 2 PTH (3), GCM2 (6) 0.09524 0.66667 4.324e-6 2.276e-5 Burkitt lymphoma Clonal cytopenia of undetermined significance 2 2 RUNX1 (2), ARID1A (2) 0.09524 0.66667 4.324e-6 2.276e-5 Diencephalic mesencephalic junction dysplasia Marshall syndrome 2 1 PCDH12 (5), RNF14 (1) 0.09524 0.66667 4.324e-6 2.276e-5 B-lymphoblastic leukemia/lymphoma Myelogenous leukemia 2 2 BCR (2), ABL1 (2) 0.09524 0.66667 4.324e-6 2.276e-5 Corneal neovascularization Diabetic angiopathies 3 2 SERPINF1 (2), VEGFA (2), IL1RN (1) 0.06818 0.16667 4.315e-6 2.274e-5 Corneal neovascularization Diabetic peripheral angiopathy 3 1 SERPINF1 (1), VEGFA (2), IL1RN (1) 0.06818 0.16667 4.315e-6 2.274e-5 Dyslipidemias Hypertriglyceridemia 3 3 LPL (3), PPARA (2), PLTP (2) 0.06818 0.16667 4.315e-6 2.274e-5 57 Congenital stromal corneal dystrophy Corneal dystrophy 2 2 DCN (6), SPARCL1 (3) 0.06061 1.00000 4.184e-6 2.207e-5 87 Corneal dystrophy Corneal endothelial dystrophy 2 2 SLC4A11 (6), KRT3 (4) 0.06061 1.00000 4.184e-6 2.207e-5 87 Congenital hereditary endothelial dystrophy Corneal dystrophy 2 2 OVOL2 (4), SLC4A11 (6) 0.06061 1.00000 4.184e-6 2.207e-5 87 Congenital aniridia Wilms tumor 2 2 WT1 (5), PAX6 (2) 0.06061 1.00000 4.184e-6 2.207e-5 Osteopathia striata with cranial sclerosis Wilms tumor 2 2 CTNNB1 (3), AMER1 (6) 0.06061 1.00000 4.184e-6 2.207e-5 81 Aplastic anemia Ovarian agenesis 2 0 DIPK1A (1), RPL5 (1) 0.06061 1.00000 4.184e-6 2.207e-5 Aplastic anemia Erythroid hypoplasia 2 0 DIPK1A (1), RPL5 (1) 0.06061 1.00000 4.184e-6 2.207e-5 Hyperplasia Primary aldosteronism 3 0 B3GLCT (1), RXFP2 (1), NDP (1) 0.06667 0.18750 4.065e-6 2.148e-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 2.148e-5 72 Hereditary breast and ovarian cancer syndrome Sarcoma 3 3 TP53 (3), ATM (2), BRCA2 (4) 0.06522 0.20000 4.010e-6 2.120e-5 Diffuse large b-cell lymphoma Follicular lymphoma 3 1 BCL2 (2), NCOA5 (1), EXOC6 (1) 0.04688 0.33333 3.977e-6 2.103e-5 Senile cataract Ureteral calculi 2 2 CAT (2), GSTP1 (2) 0.12500 0.50000 3.944e-6 2.086e-5 Congenital pain insensitivity Sensory neuropathy 2 0 NGF (1), SCN11A (1) 0.12500 0.50000 3.944e-6 2.086e-5 Arteritis Occupational disease 2 2 PON1 (2), CYP1A1 (2) 0.12500 0.50000 3.944e-6 2.086e-5 Extrinsic allergic alveolitis Hyperbilirubinemia 2 1 SOD2 (1), TNF (2) 0.12500 0.50000 3.944e-6 2.086e-5 Homocystinuria with megaloblastic anemia Hyperhomocysteinemia 2 2 MTRR (3), MTR (2) 0.12500 0.50000 3.944e-6 2.086e-5 155 Auditory neuropathy Brown-vialetto-van laere syndrome 2 2 SLC52A3 (6), SLC52A2 (6) 0.06250 1.00000 3.923e-6 2.077e-5 adult neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2 2 CTSF (8), DNAJC5 (6) 0.06250 1.00000 3.923e-6 2.077e-5 191 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 2.060e-5 Osteonecrosis of the femoral head Thrombophilia 4 3 F2 (6), PLAT (3), F5 (6), TFPI (1) 0.04938 0.12500 3.877e-6 2.055e-5 Non-syndromic cataract Nuclear cataract 2 2 EPHA2 (3), CRYBB3 (3) 0.10000 0.66667 3.869e-6 2.051e-5 51 Avascular necrosis of femoral head Spondyloepiphyseal dysplasia 2 2 COL2A1 (8), TRPV4 (6) 0.10000 0.66667 3.869e-6 2.051e-5 Bulbar palsy Gross motor development delay 2 0 CACNA1A (1), MECP2 (1) 0.10000 0.66667 3.869e-6 2.051e-5 55 Gross motor development delay Multiminicore myopathy 2 2 MYH7 (2), TTN (2) 0.10000 0.66667 3.869e-6 2.051e-5 Hematologic disease Hepatic vein thrombosis 2 2 MTHFR (2), JAK2 (2) 0.10000 0.66667 3.869e-6 2.051e-5 Hematologic disease Malnutrition 2 2 MTHFR (2), MTR (2) 0.10000 0.66667 3.869e-6 2.051e-5 Diabetic ketoacidosis Permanent neonatal diabetes mellitus 3 3 INS (7), INS-IGF2 (2), SLC2A2 (3) 0.06383 0.21429 3.849e-6 2.044e-5 35 Myelomonocytic leukemia Promyelocytic leukemia 3 3 NRAS (2), PTPN11 (4), ASXL1 (2) 0.05172 0.30000 3.805e-6 2.020e-5 Glucose-6-phosphate dehydrogenase deficiency Pleural diseases 2 2 IL6 (2), IFNG (2) 0.14286 0.40000 3.792e-6 2.014e-5 12 Myelomonocytic leukemia noonan syndrome with multiple lentigines 2 2 NRAS (2), PTPN11 (4) 0.14286 0.40000 3.792e-6 2.014e-5 49 Intervertebral disc disease Intervertebral disc displacement 2 2 COL11A1 (3), THBS2 (3) 0.14286 0.40000 3.792e-6 2.014e-5 Apert syndrome Martsolf syndrome 2 2 RAB3GAP1 (3), RAB3GAP2 (5) 0.14286 0.40000 3.792e-6 2.014e-5 90 Brain edema Visceral myopathy 2 2 MYLK (2), MYL9 (2) 0.14286 0.40000 3.792e-6 2.014e-5 Endometrial hyperplasia Li-fraumeni syndrome 2 2 TP53 (7), CDKN2A (2) 0.14286 0.40000 3.792e-6 2.014e-5 45 Alcoholic hepatitis Esotropia 2 1 TNF (2), CXCL8 (1) 0.14286 0.40000 3.792e-6 2.014e-5 43 Bilateral microphthalmos Martsolf syndrome 2 1 ARHGAP35 (1), RAB3GAP1 (3) 0.14286 0.40000 3.792e-6 2.014e-5 Beckwith-wiedemann syndrome Sotos syndrome 2 1 NSD1 (8), PIK3CA (1) 0.14286 0.40000 3.792e-6 2.014e-5 Beckwith-wiedemann syndrome Weaver syndrome 2 1 NSD1 (4), PIK3CA (1) 0.14286 0.40000 3.792e-6 2.014e-5 Delirium Disruptive impulse-control and conduct disorder 2 2 DRD2 (2), DRD3 (2) 0.14286 0.40000 3.792e-6 2.014e-5 118 Epidermal nevus Follicular thyroid cancer 2 2 NRAS (3), HRAS (3) 0.15385 0.28571 3.716e-6 1.980e-5 17 Gingival diseases Prostatic hyperplasia 2 2 PDGFB (2), FGF7 (2) 0.15385 0.28571 3.716e-6 1.980e-5 334 Focal cortical dysplasia Hemimegalencephaly 2 1 MTOR (4), RHEB (1) 0.15385 0.28571 3.716e-6 1.980e-5 Hepatic veno occlusive disease Porphyria cutanea tarda 2 1 HFE (2), GSTM1 (1) 0.15385 0.28571 3.716e-6 1.980e-5 251 Hereditary hemorrhagic telangiectasia Klippel-trenaunay syndrome 2 0 RASA1 (1), CCNH (1) 0.15385 0.28571 3.716e-6 1.980e-5 65 Epidermal nevus Nonmedullary thyroid cancer 2 2 NRAS (4), HRAS (4) 0.15385 0.28571 3.716e-6 1.980e-5 17 Appendicitis Hemophilia a 3 2 F2 (1), IL10 (2), IFNG (2) 0.06818 0.18750 3.674e-6 1.960e-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 1.960e-5 72 Hypomyelinating leukodystrophy Tremor-ataxia-central hypomyelination syndrome 2 2 POLR3B (5), POLR3A (4) 0.06452 1.00000 3.670e-6 1.959e-5 59 Cerebellar atrophy Periodic paralysis 2 0 ATP6 (1), TBC1D24 (1) 0.06452 1.00000 3.670e-6 1.959e-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 1.952e-5 Conotruncal cardiac defect Double outlet right ventricle 3 3 ZFPM2 (2), NKX2-5 (5), GDF1 (2) 0.04348 0.37500 3.602e-6 1.924e-5 Cutaneous mastocytosis Sickle cell anemia 3 2 HBE1 (2), HBG2 (2), OR51B5 (1) 0.06977 0.17647 3.600e-6 1.923e-5 237 Gaucher disease Hereditary parkinson disease 3 3 SNCA (4), PSAP (7), GBA1 (7) 0.06977 0.17647 3.600e-6 1.923e-5 114 Calcium metabolism disorders Hypocalcemia 2 2 GNA11 (6), CASR (7) 0.15385 0.33333 3.539e-6 1.892e-5 Posterior polar cataract Sutural cataract 2 2 MIP (3), CRYBA1 (2) 0.15385 0.33333 3.539e-6 1.892e-5 51 Cervical intraepithelial neoplasia Obstructive asthma 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.15385 0.33333 3.539e-6 1.892e-5 1 Eyelid disease Visual impairment 2 0 EFEMP1 (1), PNPT1 (1) 0.15385 0.33333 3.539e-6 1.892e-5 152 Cryptogenic west syndrome Tuberous sclerosis complex 2 2 TSC2 (7), TSC1 (7) 0.15385 0.33333 3.539e-6 1.892e-5 Aortic arch syndrome Pemphigus 2 1 HLA-DRB1 (2), IL2 (1) 0.15385 0.33333 3.539e-6 1.892e-5 C1 esterase inhibitor deficiency Complement pathway abnormality 2 0 C2 (1), C4B (1) 0.15385 0.33333 3.539e-6 1.892e-5 Eye neoplasms Uveal melanoma 3 0 HERC2 (1), OCA2 (1), IRF4 (1) 0.06000 0.25000 3.515e-6 1.883e-5 Kidney neoplasms Papilloma 3 0 SOD2 (1), PTGS2 (1), CCND1 (1) 0.06000 0.25000 3.515e-6 1.883e-5 Medulloblastoma Sarcoma 4 2 APC (2), FLI1 (1), BRCA2 (4), PRAME (1) 0.05063 0.12121 3.460e-6 1.854e-5 Brain aneurysm Carotid atherosclerosis 3 0 LINGO2 (1), CFDP1 (1), EDNRA (1) 0.03297 0.50000 3.442e-6 1.845e-5 Cortical dysplasia with other brain malformations lissencephaly spectrum disorders 2 2 TUBG1 (4), APC2 (5) 0.10526 0.66667 3.440e-6 1.844e-5 144 Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome Micrognathism 2 1 RAB5IF (4), TGIF2-RAB5IF (1) 0.10526 0.66667 3.440e-6 1.844e-5 Desbuquois dysplasia Larsen syndrome 2 2 XYLT1 (5), CANT1 (5) 0.10526 0.66667 3.440e-6 1.844e-5 Atrioventricular block Right ventricular cardiomyopathy 2 1 LMNA (3), TTN (1) 0.10526 0.66667 3.440e-6 1.844e-5 Anhedonia Anorexia 3 3 CRH (2), CRHR1 (2), CRHR2 (2) 0.07143 0.16667 3.429e-6 1.840e-5 Cobblestone lissencephaly Macrogyria 2 2 LAMB1 (5), TMTC3 (2) 0.06667 1.00000 3.425e-6 1.838e-5 Combined osteogenesis imperfecta and ehlers-danlos syndrome Heart valve prolapse 2 2 COL1A1 (4), COL1A2 (4) 0.06667 1.00000 3.425e-6 1.838e-5 Autoimmune polyendocrine syndrome Latent autoimmune diabetes in adults 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.13333 0.50000 3.338e-6 1.793e-5 1 Congenital secretory diarrhea Intestinal obstruction 2 2 SLC9A3 (4), SLC26A3 (3) 0.13333 0.50000 3.338e-6 1.793e-5 Atrioventricular septal defect Yorifuji okuno syndrome 2 2 GATA4 (5), GATA6 (6) 0.13333 0.50000 3.338e-6 1.793e-5 106 Dermatomyositis Mitochondrial myopathy 3 3 IL1A (2), IL1B (2), TNF (2) 0.06818 0.20000 3.307e-6 1.778e-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 1.778e-5 Congestive ophthalmopathy T-cell leukemia-lymphoma 3 3 IL10 (2), IL2 (2), CTLA4 (2) 0.06383 0.23077 3.303e-6 1.777e-5 153 Myopathic ophthalmopathy T-cell leukemia-lymphoma 3 3 IL10 (2), IL2 (2), CTLA4 (2) 0.06383 0.23077 3.303e-6 1.777e-5 153 Neoplasms Triple negative breast cancer 4 0 TERT (1), TP53 (1), MDM4 (1), SLC6A18 (1) 0.05128 0.11765 3.304e-6 1.777e-5 Leopard syndrome Leukemia 3 3 PTEN (2), PPP1R13L (2), PTPN11 (5) 0.05769 0.27273 3.295e-6 1.773e-5 Leukemia Prostatic intraepithelial neoplasia 3 0 PTEN (1), ESR1 (1), AR (1) 0.05769 0.27273 3.295e-6 1.773e-5 Avascular necrosis of bone Hypoxia 3 3 NOS3 (2), PLAT (2), TFPI (2) 0.06667 0.21429 3.212e-6 1.730e-5 23 Hypoxia Osteonecrosis of medial femoral condyle 3 3 NOS3 (2), PLAT (2), TFPI (2) 0.06667 0.21429 3.212e-6 1.730e-5 23 Esophageal disease Thyroid disease 4 0 SAMD5 (1), SASH1 (1), ATXN2 (1), CLNK (1) 0.05000 0.13333 3.208e-6 1.728e-5 Hypertriglyceridemia Infantile hypertriglyceridemia with hepatosteatosis 2 2 CREB3L3 (5), GPD1 (6) 0.06897 1.00000 3.189e-6 1.718e-5 57 Gonadal dysgenesis Xq27.3 q28 duplication syndrome 2 1 CLPP (1), FMR1 (3) 0.06897 1.00000 3.189e-6 1.718e-5 Intracranial thrombosis Von willebrand disorder 2 2 PLAT (2), VWF (8) 0.15385 0.40000 3.034e-6 1.636e-5 Glucose-6-phosphate dehydrogenase deficiency Granulomatous disease 2 1 G6PD (4), IFNG (1) 0.15385 0.40000 3.034e-6 1.636e-5 12 Immunodeficiency-centromeric instability-facial anomalies syndrome Kabuki syndrome 2 2 DNMT3B (2), ZBTB24 (2) 0.15385 0.40000 3.034e-6 1.636e-5 Polycythemia vera Thalassemia 2 2 HBA1 (2), HBB (2) 0.15385 0.40000 3.034e-6 1.636e-5 24 Chordoma Maffucci syndrome 2 2 IDH2 (3), IDH1 (4) 0.15385 0.40000 3.034e-6 1.636e-5 Disruptive impulse-control and conduct disorder Hyperproinsulinemia 2 2 PRL (2), DRD2 (2) 0.15385 0.40000 3.034e-6 1.636e-5 118 Charge syndrome Choanal atresia syndrome 2 2 KMT2D (4), CHD7 (7) 0.15385 0.40000 3.034e-6 1.636e-5 Chondrosarcoma Extraskeletal myxoid chondrosarcoma 2 2 TAF15 (4), NR4A3 (4) 0.15385 0.40000 3.034e-6 1.636e-5 Cardiac conduction disease Paroxysmal familial ventricular fibrillation 2 1 LMNA (1), SCN5A (2) 0.15385 0.40000 3.034e-6 1.636e-5 3 Anencephaly Coach syndrome 2 2 CC2D2A (3), RPGRIP1L (3) 0.15385 0.40000 3.034e-6 1.636e-5 Bernard-soulier syndrome Von willebrand disorder 2 2 VWF (8), GP1BA (8) 0.15385 0.40000 3.034e-6 1.636e-5 Bouillaud’s disease Lymphedema 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.11111 0.66667 3.035e-6 1.636e-5 1 Lymphedema Skeletal system disease 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.11111 0.66667 3.035e-6 1.636e-5 1 Lymphedema Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.11111 0.66667 3.035e-6 1.636e-5 1 Bouillaud’s disease Thyroiditis 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.11111 0.66667 3.035e-6 1.636e-5 1 Skeletal system disease Thyroiditis 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.11111 0.66667 3.035e-6 1.636e-5 1 Thyroiditis Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.11111 0.66667 3.035e-6 1.636e-5 1 Cerebral thrombosis Hemophilia a 2 0 PLAT (1), VWF (1) 0.11111 0.66667 3.035e-6 1.636e-5 Hydrops fetalis Parkes weber syndrome 2 1 RASA1 (4), CCNH (1) 0.11111 0.66667 3.035e-6 1.636e-5 65 Bruxism Rett syndrome 2 2 CDKL5 (4), MECP2 (7) 0.11111 0.66667 3.035e-6 1.636e-5 55 Arachnoid cysts Rett syndrome 2 0 GPHN (1), PALS1 (1) 0.11111 0.66667 3.035e-6 1.636e-5 Ataxia with oculomotor apraxia Spinocerebellar ataxia 3 3 SETX (6), APTX (5), PIK3R5 (6) 0.02804 0.60000 2.964e-6 1.607e-5 Methylmalonic acidemia methylmalonic aciduria and homocystinuria 2 2 ZNF143 (2), THAP11 (5) 0.07143 1.00000 2.961e-6 1.605e-5 198 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 1.594e-5 Congenital epicanthus Esophageal atresia 3 0 ATP1A3 (1), TCF4 (1), KCNA6 (1) 0.06818 0.21429 2.922e-6 1.585e-5 196 Generalized epilepsy Myoclonic epilepsy 4 3 GABRA2 (1), JRK (3), SCN1A (3), CACNB4 (3) 0.04651 0.16667 2.884e-6 1.565e-5 Retinopathy of prematurity Syndactyly 3 2 GLI3 (2), IHH (1), FZD4 (3) 0.07500 0.15000 2.841e-6 1.542e-5 189 Autoimmune polyendocrine syndrome Gastroparesis 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.14286 0.50000 2.782e-6 1.510e-5 1 Esophageal achalasia Gastroparesis 2 2 HLA-DQA1 (3), HLA-DQB1 (3) 0.14286 0.50000 2.782e-6 1.510e-5 1 Gastroparesis Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.14286 0.50000 2.782e-6 1.510e-5 1 Leopard syndrome Neurofibromatosis-noonan syndrome 2 2 PTPN11 (5), MAP2K2 (2) 0.14286 0.50000 2.782e-6 1.510e-5 Macrothrombocytopenia Thrombasthenia 2 2 ITGB3 (3), ITGA2B (3) 0.14286 0.50000 2.782e-6 1.510e-5 67 Melanocytic nevus Penile neoplasms 2 2 TP53 (2), HRAS (2) 0.14286 0.50000 2.782e-6 1.510e-5 17 Paroxysmal atrial fibrillation Short qt syndrome 2 2 KCNQ1 (6), CACNA2D1 (2) 0.14286 0.50000 2.782e-6 1.510e-5 Cardiovascular abnormalities Paroxysmal atrial fibrillation 2 0 KCNQ1 (1), MYBPC3 (1) 0.14286 0.50000 2.782e-6 1.510e-5 Anhydramnios Caroli disease 2 2 PKD1 (2), PKHD1 (3) 0.14286 0.50000 2.782e-6 1.510e-5 74 Anterior polar cataract Lamellar cataract 2 2 CRYAA (2), CRYGB (2) 0.14286 0.50000 2.782e-6 1.510e-5 51 Autoimmune polyendocrine syndrome Cutaneous lupus erythematosus 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.14286 0.50000 2.782e-6 1.510e-5 1 Secondary malignant neoplasm Systemic mastocytosis 3 0 HBE1 (1), HBG2 (1), OR51B5 (1) 0.07500 0.15789 2.777e-6 1.510e-5 237 Congenital stationary night blindness Retinal degeneration 3 3 PDE6B (4), RHO (4), GNAT1 (4) 0.06383 0.25000 2.768e-6 1.508e-5 Leukodystrophy Tremor-ataxia-central hypomyelination syndrome 2 1 POLR3B (1), POLR3A (2) 0.07407 1.00000 2.742e-6 1.493e-5 59 Cowchock syndrome Leukodystrophy 2 1 AIFM1 (2), RAB33A (1) 0.07407 1.00000 2.742e-6 1.493e-5 Amino acid metabolism disorder propionic acidemia 2 2 PCCA (2), PCCB (2) 0.07407 1.00000 2.742e-6 1.493e-5 112 Mitochondrial dna depletion syndrome Mitochondrial myopathy 3 3 RRM2B (6), SLC25A4 (6), TK2 (6) 0.07143 0.20000 2.692e-6 1.467e-5 Maffucci syndrome Promyelocytic leukemia 3 3 IDH2 (3), IDH1 (4), PTPN11 (2) 0.05263 0.33333 2.669e-6 1.456e-5 Megacystis microcolon intestinal hypoperistalsis syndrome Visceral neuropathy 2 1 NDE1 (1), ACTG2 (6) 0.16667 0.33333 2.655e-6 1.449e-5 426 Rickets Vitamin d dependent rickets 2 2 VDR (5), CYP27B1 (6) 0.16667 0.33333 2.655e-6 1.449e-5 342 46,xx ovotesticular disorder of sex development 46,xy sex reversal 2 0 NR5A1 (1), SRY (1) 0.16667 0.33333 2.655e-6 1.449e-5 46,xy disorder of sex developmen Disorders of sex development 2 2 AKR1C2 (3), HSD17B3 (3) 0.16667 0.33333 2.655e-6 1.449e-5 363 Adenomatous polyposis Focal cortical dysplasia 2 2 TSC2 (3), NTHL1 (4) 0.16667 0.33333 2.655e-6 1.449e-5 48 Chiari-frommel syndrome Pituitary neoplasms 2 2 PRL (2), DRD2 (2) 0.16667 0.33333 2.655e-6 1.449e-5 118 Cockayne syndrome Testicular neoplasms 2 2 ERCC1 (3), ERCC4 (3) 0.16667 0.33333 2.655e-6 1.449e-5 Congenital cystic eyeball Klippel-feil syndrome 2 2 GDF6 (5), GDF3 (5) 0.16667 0.33333 2.655e-6 1.449e-5 52 Concentric hypertrophic cardiomyopathy Polymorphic catecholaminergic ventricular tachycardia 2 0 CACNA1C (1), MYBPC3 (1) 0.11765 0.66667 2.656e-6 1.449e-5 Congenital afibrinogenemia Cor pulmonale 2 2 FGA (3), FGG (2) 0.11765 0.66667 2.656e-6 1.449e-5 156 Intracranial aneurysm Intracranial arteriovenous malformation 2 1 IL6 (2), ENG (1) 0.11765 0.66667 2.656e-6 1.449e-5 Macular telangiectasia neurometabolic disorder due to serine deficiency 2 2 PHGDH (2), PSPH (2) 0.11765 0.66667 2.656e-6 1.449e-5 Mitochondrial myopathy Myoclonic epilepsy with ragged red fibers 2 2 IL1A (2), IL1B (2) 0.11765 0.66667 2.656e-6 1.449e-5 26 Bone osteosarcoma Hereditary breast and ovarian cancer syndrome 2 2 CHEK2 (2), TP53 (2) 0.11765 0.66667 2.656e-6 1.449e-5 Congenital fibrosis of extraocular muscles Cortical development malformation 3 3 HRAS (2), TUBB2B (4), TUBA1A (2) 0.07317 0.18750 2.652e-6 1.449e-5 144 Brain infarction Proteinuria 4 4 APOE (2), HLA-DQA1 (2), CYBB (2), ALOX5AP (2) 0.05333 0.11111 2.643e-6 1.448e-5 Epidermal nevus Urinary bladder cancer 3 3 FGFR3 (4), KRAS (2), HRAS (3) 0.04225 0.42857 2.601e-6 1.424e-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 1.414e-5 303 Cortical dysplasia with other brain malformations Polymicrogyria 3 3 DYNC1H1 (3), ADGRG1 (4), TUBB2B (4) 0.07500 0.17647 2.533e-6 1.388e-5 Gallbladder neoplasms Soft tissue neoplasms 2 1 ERBB4 (2), EPHB1 (1) 0.07692 1.00000 2.531e-6 1.387e-5 312 Cowchock syndrome Spondyloepimetaphyseal dysplasia 2 1 AIFM1 (4), RAB33A (1) 0.07692 1.00000 2.531e-6 1.387e-5 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 1.387e-5 52 Sarcoma Senile cataract 3 3 ERCC2 (2), GSTP1 (2), ATM (2) 0.06818 0.23077 2.528e-6 1.387e-5 Bone neoplasms Oral submucous fibrosis 3 3 PTGS2 (2), MMP9 (2), MMP2 (2) 0.07692 0.15000 2.455e-6 1.347e-5 Seborrheic dermatitis Uveal melanoma 4 0 HERC2 (1), IRF4 (1), SGPL1 (1), UNC5B (1) 0.05405 0.10811 2.423e-6 1.330e-5 263 Iron metabolism disorder Polycythemia 3 2 HFE (2), JAK2 (3), TMPRSS6 (1) 0.07692 0.15789 2.417e-6 1.327e-5 Blepharoptosis Centronuclear myopathy 3 1 RYR1 (3), CHRND (1), OPA1 (1) 0.07692 0.15789 2.417e-6 1.327e-5 Dyskinesia Movement disorder 4 4 PDYN (2), DRD2 (2), OPRM1 (2), GNAO1 (3) 0.05000 0.15385 2.374e-6 1.304e-5 Aicardi goutieres syndrome Chilblain lupus erythematosus 2 2 SAMHD1 (5), TREX1 (6) 0.16667 0.40000 2.360e-6 1.297e-5 Aortic rupture Ruptured abdominal aortic aneurysm 2 2 FBN1 (2), MMP9 (2) 0.16667 0.40000 2.360e-6 1.297e-5 64 Aortic rupture Ruptured aortic aneurysm 2 2 FBN1 (2), MMP9 (2) 0.16667 0.40000 2.360e-6 1.297e-5 64 Aortic rupture Ruptured thoracic aortic aneurysm 2 2 FBN1 (2), MMP9 (2) 0.16667 0.40000 2.360e-6 1.297e-5 64 Benign prostatic hyperplasia Lipoma 3 0 TERT (1), BET1L (1), STN1 (1) 0.06667 0.25000 2.334e-6 1.284e-5 138 Andersen-tawil syndrome Hereditary atrial fibrillation 2 2 KCNJ2 (5), KCNJ5 (2) 0.08000 1.00000 2.328e-6 1.281e-5 Deficiency anemia Transcobalamin deficiency 2 2 TCN2 (7), TCN1 (2) 0.08000 1.00000 2.328e-6 1.281e-5 100 Deafness enamel hypoplasia nail defects Peroxisome biogenesis disorder 2 2 PEX6 (7), PEX1 (6) 0.08000 1.00000 2.328e-6 1.281e-5 141 Deafness-enamel hypoplasia-nail defects syndrome Peroxisome biogenesis disorder 2 2 PEX6 (8), PEX1 (7) 0.08000 1.00000 2.328e-6 1.281e-5 141 Glucocorticoid-remediable aldosteronism Hyperaldosteronism 2 2 CYP11B2 (3), CYP11B1 (6) 0.08000 1.00000 2.328e-6 1.281e-5 Dermatitis herpetiformis Hepatic encephalopathy 2 2 TNF (2), LTA (2) 0.12500 0.66667 2.302e-6 1.268e-5 Avascular necrosis of femoral head Osteonecrosis of medial femoral condyle 2 2 COL2A1 (5), TRPV4 (5) 0.12500 0.66667 2.302e-6 1.268e-5 Cerebral sinovenous thrombosis Osteonecrosis of medial femoral condyle 2 2 F2 (2), F5 (2) 0.12500 0.66667 2.302e-6 1.268e-5 Bouillaud’s disease Rosacea 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.12500 0.66667 2.302e-6 1.268e-5 1 Rosacea Skeletal system disease 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.12500 0.66667 2.302e-6 1.268e-5 1 Rosacea Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.12500 0.66667 2.302e-6 1.268e-5 1 Achondrogenesis Spondylometaphyseal dysplasia 2 2 TRIP11 (2), COL2A1 (6) 0.12500 0.66667 2.302e-6 1.268e-5 Avascular necrosis of femoral head Spondylometaphyseal dysplasia 2 2 COL2A1 (5), TRPV4 (6) 0.12500 0.66667 2.302e-6 1.268e-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 1.268e-5 Avascular necrosis of bone Avascular necrosis of femoral head 2 2 COL2A1 (5), TRPV4 (5) 0.12500 0.66667 2.302e-6 1.268e-5 Avascular necrosis of bone Cerebral sinovenous thrombosis 2 2 F2 (2), F5 (2) 0.12500 0.66667 2.302e-6 1.268e-5 Distal myopathy Multiminicore myopathy 2 2 MYH7 (3), TTN (3) 0.12500 0.66667 2.302e-6 1.268e-5 Bouillaud’s disease Cartilage disease 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.12500 0.66667 2.302e-6 1.268e-5 1 Cartilage disease Skeletal system disease 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.12500 0.66667 2.302e-6 1.268e-5 1 Cartilage disease Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.12500 0.66667 2.302e-6 1.268e-5 1 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 1.263e-5 Endometrial hyperplasia Penile neoplasms 2 2 TP53 (2), KRAS (2) 0.15385 0.50000 2.276e-6 1.259e-5 Cecal neoplasms Endometrial hyperplasia 2 2 CTNNB1 (2), KRAS (2) 0.15385 0.50000 2.276e-6 1.259e-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 1.259e-5 Craniodiaphyseal dysplasia Mainzer-saldino disease 2 2 IFT140 (2), WDR19 (6) 0.15385 0.50000 2.276e-6 1.259e-5 Anti-glomerular basement membrane disease Berylliosis 2 2 HLA-DRB1 (2), HLA-DPB1 (3) 0.15385 0.50000 2.276e-6 1.259e-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 1.259e-5 Myelomonocytic leukemia Neurofibromatosis-noonan syndrome 2 2 NF1 (6), PTPN11 (4) 0.15385 0.50000 2.276e-6 1.259e-5 Goldenhar syndrome Hemifacial microsomia 2 1 FOXI3 (1), SF3B2 (2) 0.15385 0.50000 2.276e-6 1.259e-5 Iron deficiency anemia Microcytic anemia 2 2 SLC11A2 (6), TMPRSS6 (2) 0.15385 0.50000 2.276e-6 1.259e-5 Perisylvian syndrome Tubulinopathy 2 2 TUBB2B (3), TUBA1A (3) 0.15385 0.50000 2.276e-6 1.259e-5 Esotropia Extrinsic allergic alveolitis 2 1 SOD2 (2), TNF (1) 0.15385 0.50000 2.276e-6 1.259e-5 Intestinal pseudo-obstruction Tricuspid valve disease 2 0 MYH11 (1), NDE1 (1) 0.15385 0.50000 2.276e-6 1.259e-5 426 Kidney and ureter calculus Ureterolithiasis 2 2 RGS14 (2), CYP24A1 (2) 0.15385 0.50000 2.276e-6 1.259e-5 Alport syndrome, x-linked Leiomyoma 2 2 COL4A5 (4), COL4A6 (2) 0.15385 0.50000 2.276e-6 1.259e-5 91 Congenital malformation syndromes predominantly affecting facial appearance Martsolf syndrome 2 2 RAB3GAP1 (3), RAB3GAP2 (5) 0.15385 0.50000 2.276e-6 1.259e-5 90 Martsolf syndrome Warburg micro syndrome 2 2 RAB3GAP1 (5), RAB3GAP2 (6) 0.15385 0.50000 2.276e-6 1.259e-5 90 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 1.216e-5 75 Coronary restenosis Heart valve prolapse 3 1 ACE (2), SPP1 (1), ITGB2 (1) 0.07317 0.21429 2.156e-6 1.198e-5 Combined osteogenesis imperfecta and ehlers-danlos syndrome Skeletal dysplasia 2 2 COL1A1 (4), COL1A2 (4) 0.08333 1.00000 2.134e-6 1.186e-5 93 Anterior segment dysgenesis Congenital cataract microcornea with corneal opacity 2 2 ATOH7 (3), PXDN (5) 0.08333 1.00000 2.134e-6 1.186e-5 Congenital clubfoot Congenital hypoplasia of femur 2 0 PLOD2 (1), INPP5E (1) 0.08333 1.00000 2.134e-6 1.186e-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 1.185e-5 Gallbladder neoplasms Primary aldosteronism 3 1 B3GLCT (1), RXFP2 (1), CCKAR (2) 0.07692 0.18750 2.088e-6 1.162e-5 Carcinogenesis Nasopharyngeal carcinoma 3 0 KRAS (1), ERBB2 (1), CDKN2A (1) 0.07895 0.16667 2.037e-6 1.134e-5 45 Chorea Dysarthria 3 0 CACNA1A (1), DNMT1 (1), ADCY5 (1) 0.07895 0.16667 2.037e-6 1.134e-5 Bor syndrome Congenital abnormalities 2 2 EYA1 (3), SIX1 (3) 0.13333 0.66667 1.973e-6 1.099e-5 134 Deafness, aminoglycoside-induced Neuropathy, ataxia, and retinitis pigmentosa 2 0 ND1 (1), COX1 (1) 0.13333 0.66667 1.973e-6 1.099e-5 Activated pi3k-delta syndrome Agammaglobulinemia 2 2 PIK3CD (2), PIK3R1 (4) 0.13333 0.66667 1.973e-6 1.099e-5 Essential thrombocythemia Polycythemia, primary familial and congenital 2 2 SH2B3 (3), JAK2 (3) 0.13333 0.66667 1.973e-6 1.099e-5 Hyperbilirubinemia Rotor syndrome 2 2 SLCO1B1 (6), SLCO1B3 (6) 0.13333 0.66667 1.973e-6 1.099e-5 256 Mitochondrial hepatopathy Progressive external ophthalmoplegia 2 2 POLG (3), TWNK (3) 0.13333 0.66667 1.973e-6 1.099e-5 Myoclonic epilepsy with ragged red fibers Progressive external ophthalmoplegia 2 2 IL1A (2), IL1B (2) 0.13333 0.66667 1.973e-6 1.099e-5 26 Benign mucous membrane pemphigoid with ocular involvement Optic neuritis 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.13333 0.66667 1.973e-6 1.099e-5 1 Bouillaud’s disease Optic neuritis 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.13333 0.66667 1.973e-6 1.099e-5 1 Acute disseminated encephalomyelitis Optic neuritis 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.13333 0.66667 1.973e-6 1.099e-5 1 Benign mucous membrane pemphigoid Optic neuritis 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.13333 0.66667 1.973e-6 1.099e-5 1 Hematoma Intracranial hemorrhage 2 0 PLAT (1), F7 (1) 0.13333 0.66667 1.973e-6 1.099e-5 29 Intestinal perforation Raynaud disease 2 1 NOS3 (3), IFNA2 (1) 0.13333 0.66667 1.973e-6 1.099e-5 Dominantly inherited sensory neuropathy Sensory neuropathy 2 0 DNMT1 (1), SCN11A (1) 0.13333 0.66667 1.973e-6 1.099e-5 Lipoprotein lipase deficiency Neoplasms 4 0 FADS1 (1), FADS2 (1), MYRF (1), TMEM258 (1) 0.05405 0.13333 1.970e-6 1.099e-5 Larsen syndrome Skeletal dysplasia 3 2 FGFR3 (1), CSGALNACT1 (5), CHST3 (4) 0.07895 0.17647 1.953e-6 1.092e-5 Congenital clubfoot Micrognathism 3 0 BLTP1 (1), PITX1 (1), INPP5E (1) 0.07895 0.17647 1.953e-6 1.092e-5 Congenital factor xiii deficiency Venous thrombosis 2 2 F13A1 (3), F13B (2) 0.08696 1.00000 1.949e-6 1.090e-5 congenital heart disease with heterotaxy syndrome Heterotaxy syndrome 2 2 ZIC3 (6), NODAL (5) 0.08696 1.00000 1.949e-6 1.090e-5 54 Cyclic neutropenia Severe congenital neutropenia 2 1 CFD (1), ELANE (6) 0.08696 1.00000 1.949e-6 1.090e-5 Centronuclear myopathy X-linked centronuclear myopathy 2 2 MTM1 (2), DNM2 (4) 0.08696 1.00000 1.949e-6 1.090e-5 Centronuclear myopathy Malignant hyperthermia 2 2 RYR1 (6), CACNA1S (5) 0.08696 1.00000 1.949e-6 1.090e-5 Syndactyly Triphalangeal thumb-polysyndactyly syndrome 2 2 LMBR1 (4), SHH (3) 0.08696 1.00000 1.949e-6 1.090e-5 Cenani-lenz syndrome Syndactyly 2 2 APC (3), LRP4 (6) 0.08696 1.00000 1.949e-6 1.090e-5 Factor xiii deficiency Venous thrombosis 2 2 F13A1 (6), F13B (6) 0.08696 1.00000 1.949e-6 1.090e-5 Gm1 gangliosidosis Mucopolysaccharidosis 2 1 GLB1 (7), TMPPE (1) 0.08696 1.00000 1.949e-6 1.090e-5 Testicular carcinoma Testicular neoplasms 3 3 DMRT1 (2), ATF7IP (2), KITLG (2) 0.04615 0.42857 1.947e-6 1.090e-5 Testicular germ cell tumor Testicular neoplasms 3 3 DMRT1 (2), ATF7IP (2), KITLG (2) 0.04615 0.42857 1.947e-6 1.090e-5 Bradycardia Tremor 3 0 HTR1A (1), TRH (1), CYP2D6 (1) 0.07692 0.20000 1.919e-6 1.077e-5 66 Cystic kidney disease Urinary system disease 3 0 BCAS3 (1), MAF (1), INVS (1) 0.07692 0.20000 1.919e-6 1.077e-5 Cervical intraepithelial neoplasia Cold paroxysmal hemoglobinuria 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.18182 0.33333 1.897e-6 1.065e-5 Adenomatous polyposis Tuberous sclerosis complex 2 2 TSC2 (7), NTHL1 (4) 0.18182 0.33333 1.897e-6 1.065e-5 48 Bare lymphocyte syndrome Severe combined immunodeficiency 3 0 RFX5 (1), RFXANK (1), TAPBP (1) 0.05263 0.37500 1.895e-6 1.064e-5 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 1.064e-5 Kawasaki disease Polymyositis 4 2 TNF (2), HLA-DQB1 (1), BLK (3), FAM167A (1) 0.04819 0.18182 1.877e-6 1.055e-5 22 Hyperaldosteronism Primary aldosteronism 3 1 CACNA1D (3), B3GLCT (1), RXFP2 (1) 0.07895 0.18750 1.838e-6 1.034e-5 Hypercalciuria Kidney and ureter calculus 2 2 SLC34A1 (2), CYP24A1 (2) 0.16667 0.50000 1.821e-6 1.024e-5 259 Intracellular cobalamin metabolism disorder Neural tube defects, folate-sensitive 2 0 MTRR (1), MTR (1) 0.16667 0.50000 1.821e-6 1.024e-5 Thrombasthenia Von willebrand disorder 2 1 ITGA2 (1), ITGA2B (2) 0.16667 0.50000 1.821e-6 1.024e-5 Benign neonatal epilepsy Malignant migrating partial seizures of infancy 2 2 KCNQ2 (3), SCN2A (2) 0.16667 0.50000 1.821e-6 1.024e-5 Benign neonatal epilepsy Epilepsy of infancy with migrating focal seizures 2 2 KCNQ2 (4), SCN2A (3) 0.16667 0.50000 1.821e-6 1.024e-5 Acrofacial dysostosis Ellis-van creveld syndrome 2 2 EVC (7), EVC2 (8) 0.16667 0.50000 1.821e-6 1.024e-5 233 Anencephaly Neural tube defects, folate-sensitive 2 2 MTHFR (2), MTRR (2) 0.16667 0.50000 1.821e-6 1.024e-5 155 Congenital arteriovenous malformation Penile neoplasms 2 2 HRAS (2), PIK3CA (2) 0.16667 0.50000 1.821e-6 1.024e-5 17 Congenital hemihypertrophy Congenital joint contractures 2 0 KIF1B (1), SH3TC2 (1) 0.16667 0.50000 1.821e-6 1.024e-5 Amyloidosis Splenomegaly 3 3 APP (2), PSEN1 (2), APOE (2) 0.08108 0.15789 1.792e-6 1.010e-5 46,xx sex reversal 46,xy sex reversal 2 2 NR5A1 (2), SRY (2) 0.18182 0.40000 1.770e-6 9.988e-6 Chiari-frommel syndrome Disruptive impulse-control and conduct disorder 2 1 PRL (1), DRD2 (2) 0.18182 0.40000 1.770e-6 9.988e-6 118 Christ-siemens-touraine syndrome Hypohidrotic ectodermal dysplasia 2 2 EDAR (3), EDARADD (3) 0.18182 0.40000 1.770e-6 9.988e-6 76 Congenital stenosis of aortic valve Varicose veins 2 0 ELN (1), MMP1 (1) 0.18182 0.40000 1.770e-6 9.988e-6 Constipation Nausea 2 0 POMC (1), OPRM1 (1) 0.18182 0.40000 1.770e-6 9.988e-6 101 Glucose-6-phosphate dehydrogenase deficiency Hyper-igm immunodeficiency syndrome 2 1 G6PD (3), IKBKG (1) 0.18182 0.40000 1.770e-6 9.988e-6 12 Tubular aggregate myopathy Vacuolar myopathy 2 2 STIM1 (4), CASQ1 (3) 0.18182 0.40000 1.770e-6 9.988e-6 Hereditary bundle branch system defect Paroxysmal familial ventricular fibrillation 2 1 DSP (1), SCN5A (2) 0.18182 0.40000 1.770e-6 9.988e-6 3 Cerebral small vessel disease Intracerebral hemorrhage 2 2 COL4A2 (3), COL4A1 (2) 0.09091 1.00000 1.772e-6 9.988e-6 33 Intracerebral hemorrhage Vascular leukoencephalopathy 2 2 COL4A2 (3), COL4A1 (3) 0.09091 1.00000 1.772e-6 9.988e-6 33 Congenital porencephaly Intracerebral hemorrhage 2 2 COL4A2 (2), COL4A1 (2) 0.09091 1.00000 1.772e-6 9.988e-6 33 Intracerebral hemorrhage Posttraumatic porencephalic cyst of brain 2 2 COL4A2 (2), COL4A1 (2) 0.09091 1.00000 1.772e-6 9.988e-6 33 Cushing syndrome Glucocorticoid-remediable aldosteronism 2 2 CYP11B2 (2), CYP11B1 (4) 0.09091 1.00000 1.772e-6 9.988e-6 Embryonal carcinoma Graft-versus-host disease 2 2 TNFRSF8 (2), TNFSF8 (2) 0.09091 1.00000 1.772e-6 9.988e-6 Congenital cardiomyopathy Postaxial polydactyly 2 0 ND5 (1), ND4 (1) 0.09091 1.00000 1.772e-6 9.988e-6 26 Brachydactyly Hemimelia of limb 2 2 NOG (5), HOXD13 (6) 0.09091 1.00000 1.772e-6 9.988e-6 111 Cushing syndrome Sick sinus syndrome 3 3 CACNA1D (2), POMC (2), KCNJ5 (2) 0.08108 0.16667 1.761e-6 9.970e-6 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 9.941e-6 Hemochromatosis Hepatolenticular degeneration 3 3 CP (2), TNF (2), HAMP (6) 0.07692 0.21429 1.728e-6 9.789e-6 inherited retinal dystrophy Night blindness, congenital stationary 3 3 PDE6B (4), GNAT1 (4), SLC24A1 (4) 0.07895 0.20000 1.698e-6 9.624e-6 160 Imerslund-grasbeck syndrome Vitamin b deficiency 2 2 CUBN (6), AMN (5) 0.14286 0.66667 1.670e-6 9.465e-6 100 Desmoid tumor Intestinal neoplasms 2 2 CTNNB1 (3), APC (6) 0.14286 0.66667 1.670e-6 9.465e-6 Bietti crystalline corneoretinal dystrophy Hereditary corneal dystrophy 2 1 CYP4V2 (6), KLKB1 (1) 0.14286 0.66667 1.670e-6 9.465e-6 Hyperoxaluria Pfaundler-hurler syndrome 2 1 IDUA (1), SLC26A1 (2) 0.14286 0.66667 1.670e-6 9.465e-6 300 Bouillaud’s disease Latent autoimmune diabetes in adults 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.14286 0.66667 1.670e-6 9.465e-6 1 Lipoma Venous hypertension 2 0 SLC19A2 (1), F5 (1) 0.14286 0.66667 1.670e-6 9.465e-6 Bile acid malabsorption Diabetes complications 2 2 SLC10A2 (5), SLC51B (4) 0.14286 0.66667 1.670e-6 9.465e-6 366 Autoimmune musculoskeletal system disorder Bouillaud’s disease 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.14286 0.66667 1.670e-6 9.465e-6 1 Autoimmune musculoskeletal system disorder Skeletal system disease 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.14286 0.66667 1.670e-6 9.465e-6 1 Autoimmune musculoskeletal system disorder Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.14286 0.66667 1.670e-6 9.465e-6 1 Congenital respiratory system anomaly familial thoracic aortic aneurysm and aortic dissection 2 2 TGFB2 (2), TGFB3 (2) 0.14286 0.66667 1.670e-6 9.465e-6 Hyperkinesia Lewy body disease 5 5 NTRK2 (2), NGF (2), NTS (3), TH (2), SNCG (2) 0.04032 0.15152 1.664e-6 9.461e-6 Brain neoplasms Tongue neoplasms 3 0 TERT (1), SOD2 (1), HRAS (1) 0.06522 0.30000 1.644e-6 9.352e-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 9.345e-6 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 9.175e-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 9.162e-6 11 Neuronal ceroid lipofuscinosis Trigeminal neuralgia 3 3 GFAP (2), MAPK1 (2), MAPK3 (2) 0.07317 0.25000 1.606e-6 9.142e-6 Hyperplasia Papilloma 3 0 PTGS2 (1), TGFB1 (1), CCND1 (1) 0.07317 0.25000 1.606e-6 9.142e-6 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 9.142e-6 Glanzmann thrombasthenia Platelet-type bleeding disorder 2 2 ITGB3 (8), ITGA2B (8) 0.09524 1.00000 1.603e-6 9.133e-6 67 congenital heart disease with heterotaxy syndrome Situs inversus 2 2 ZIC3 (2), NODAL (3) 0.09524 1.00000 1.603e-6 9.133e-6 54 Canavan disease Fraser syndrome 2 1 ASPA (7), SPATA22 (1) 0.09524 1.00000 1.603e-6 9.133e-6 Benign recurrent intrahepatic cholestasis Intrahepatic cholestasis of pregnancy 2 2 ATP8B1 (3), ABCB11 (3) 0.09524 1.00000 1.603e-6 9.133e-6 135 Chorioretinopathy with microcephaly Optic atrophy 3 3 TUBGCP6 (2), PLK4 (2), TUBGCP4 (2) 0.01648 1.00000 1.598e-6 9.114e-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 9.072e-6 Diabetic eye disease Hyperuricemia 5 2 RREB1 (1), APOE (2), TGFB1 (3), GCKR (1), KCNQ1 (1) 0.04630 0.10417 1.578e-6 9.009e-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 8.829e-6 Aortic dissection Upper respiratory tract disorder 3 3 SMAD3 (3), IL18R1 (2), IL1RL1 (2) 0.08333 0.16667 1.510e-6 8.624e-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 8.550e-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 8.550e-6 Hemorrhage Portal hypertension 3 3 REN (2), VEGFA (2), EPHA7 (2) 0.08108 0.20000 1.495e-6 8.546e-6 Interstitial lung disease Pulmonary surfactant metabolism dysfunction 3 2 BMP1 (1), SFTPC (6), ABCA3 (7) 0.04286 0.50000 1.491e-6 8.521e-6 Head and neck neoplasms Mucositis 3 1 IL1B (2), CSF3 (1), TGFA (1) 0.05660 0.37500 1.477e-6 8.444e-6 Ectodermal dysplasia Tooth agenesis 4 4 EDA (6), TSPEAR (4), WNT10A (8), EDARADD (6) 0.05714 0.12500 1.474e-6 8.430e-6 76 Ductal carcinoma of breast Lymphatic metastasis 3 0 SOD2 (1), ERBB2 (1), CD274 (1) 0.07500 0.25000 1.451e-6 8.302e-6 Neuropathy Visual system disorder 2 0 EFEMP1 (1), PNPT1 (1) 0.10000 1.00000 1.443e-6 8.256e-6 152 Amyloid polyneuropathy Amyloidosis 2 2 APOA1 (2), TTR (6) 0.10000 1.00000 1.443e-6 8.256e-6 Aortic disease Brittle cornea syndrome 2 2 PRDM5 (7), ZNF469 (7) 0.10000 1.00000 1.443e-6 8.256e-6 B-lymphoblastic leukemia/lymphoma Vulvar lichen sclerosus 2 2 TP53 (3), CDKN2A (3) 0.10000 1.00000 1.443e-6 8.256e-6 45 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 8.207e-6 46 Cavernous malformations of cns Developmental venous anomaly 2 0 PDCD10 (1), CCM2 (1) 0.18182 0.50000 1.416e-6 8.118e-6 249 Autoimmune polyendocrine syndrome Obstructive asthma 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.18182 0.50000 1.416e-6 8.118e-6 1 Esophageal achalasia Obstructive asthma 2 2 HLA-DQA1 (3), HLA-DQB1 (3) 0.18182 0.50000 1.416e-6 8.118e-6 1 Obstructive asthma Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.18182 0.50000 1.416e-6 8.118e-6 1 Turner syndrome Ureteral calculi 2 2 CAT (2), SOD1 (2) 0.18182 0.50000 1.416e-6 8.118e-6 294 Lymphedema Sinusitis 3 1 HLA-DQA1 (1), HLA-DRB1 (1), MET (2) 0.08333 0.18750 1.401e-6 8.038e-6 1 Delirium Learning disorders 3 3 IGF1 (2), IL1RN (2), TH (2) 0.06818 0.30000 1.393e-6 7.994e-6 Melanocytic nevus Schimmelpenning-feuerstein-mims syndrome 2 2 NRAS (2), HRAS (2) 0.15385 0.66667 1.391e-6 7.989e-6 17 Dend syndrome Hyperinsulinemic hypoglycemia 2 2 ABCC8 (5), KCNJ11 (6) 0.15385 0.66667 1.391e-6 7.989e-6 Bouillaud’s disease Gastroparesis 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.15385 0.66667 1.391e-6 7.989e-6 1 Bouillaud’s disease Cutaneous lupus erythematosus 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.15385 0.66667 1.391e-6 7.989e-6 1 Cutaneous lupus erythematosus Skeletal system disease 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.15385 0.66667 1.391e-6 7.989e-6 1 Cutaneous lupus erythematosus Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.15385 0.66667 1.391e-6 7.989e-6 1 Ataxia telangiectasia Chromosome 17q21.31 deletion syndrome 2 1 ATM (7), C11orf65 (1) 0.15385 0.66667 1.391e-6 7.989e-6 364 Autoimmune lymphoproliferative disorder Schimmelpenning-feuerstein-mims syndrome 2 2 KRAS (2), NRAS (4) 0.15385 0.66667 1.391e-6 7.989e-6 17 Anhydramnios autosomal recessive polycystic kidney disease 2 2 PKD1 (2), PKHD1 (2) 0.15385 0.66667 1.391e-6 7.989e-6 74 Congenital fiber type disproportion myopathy Eichsfeld type congenital muscular dystrophy 2 2 ACTA1 (3), SELENON (4) 0.15385 0.66667 1.391e-6 7.989e-6 Congenital fiber type disproportion myopathy Rigid spine muscular dystrophy 2 2 ACTA1 (4), SELENON (4) 0.15385 0.66667 1.391e-6 7.989e-6 Congenital fiber type disproportion myopathy Multiminicore myopathy 2 2 MYH7 (2), SELENON (3) 0.15385 0.66667 1.391e-6 7.989e-6 Erectile dysfunction Sleep apnea 5 4 SLC39A8 (1), NOS3 (2), BCL2 (3), EDN1 (2), EDNRA (2) 0.04717 0.10204 1.377e-6 7.933e-6 Spondyloepimetaphyseal dysplasia Spondylometaphyseal dysplasia 3 3 COL2A1 (5), TRPV4 (6), TONSL (3) 0.08108 0.21429 1.360e-6 7.837e-6 Blindness Night blindness, congenital stationary 3 1 ABCA4 (1), USH2A (1), RHO (3) 0.08108 0.21429 1.360e-6 7.837e-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 7.748e-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 7.697e-6 Mouth neoplasms Neoplasms 5 1 TP53 (2), RMDN2 (1), KCNA5 (1), ANGPTL2 (1), RALGPS1 (1) 0.04717 0.10638 1.311e-6 7.561e-6 Congenital neck anomaly Nemaline myopathy 2 1 RIF1 (1), NEB (7) 0.10526 1.00000 1.291e-6 7.448e-6 Lipodystrophy Restrictive dermopathy 2 2 LMNA (7), ZMPSTE24 (5) 0.10526 1.00000 1.291e-6 7.448e-6 Junctional epidermolysis bullosa Lethal acantholytic epidermolysis bullosa 2 2 JUP (3), DSP (5) 0.10526 1.00000 1.291e-6 7.448e-6 Congenital cardiomyopathy Melas syndrome 2 1 ND5 (2), ND4 (1) 0.10526 1.00000 1.291e-6 7.448e-6 26 B-lymphoblastic leukemia/lymphoma Carcinogenesis 3 3 GATA3 (2), CDKN2A (2), ABL1 (2) 0.08571 0.16667 1.285e-6 7.421e-6 45 Hematologic disease Polycythemia 3 1 H2BC4 (1), HFE (1), JAK2 (3) 0.08571 0.16667 1.285e-6 7.421e-6 24 Thyroid cancer Tongue neoplasms 3 1 TERT (1), SOD2 (1), TYMS (2) 0.06977 0.30000 1.277e-6 7.381e-6 Arteriosclerosis Barrett esophagus 5 3 APOB (2), MMP12 (1), PTGS2 (2), MMP1 (1), MSR1 (5) 0.04587 0.12195 1.276e-6 7.379e-6 Cyanosis Methemoglobinemia 2 2 HBB (4), CYB5R3 (5) 0.20000 0.40000 1.265e-6 7.314e-6 Cyclin-dependent kinase-like 5 deficiency Retinoschisis 2 1 CDKL5 (1), RS1 (4) 0.20000 0.40000 1.265e-6 7.314e-6 De lange syndrome Wiedemann-steiner syndrome 2 2 SMC1A (3), SMC3 (3) 0.20000 0.40000 1.265e-6 7.314e-6 301 Disruptive impulse-control and conduct disorder Pituitary neoplasms 2 2 PRL (2), DRD2 (2) 0.20000 0.40000 1.265e-6 7.314e-6 118 Central areolar choroidal dystrophy Retinitis punctata albescens 2 1 PRPH2 (3), EYS (1) 0.20000 0.40000 1.265e-6 7.314e-6 Cerebrooculofacioskeletal syndrome Uv-sensitive syndrome 2 1 ERCC6 (6), PGBD3 (1) 0.20000 0.40000 1.265e-6 7.314e-6 352 Clear cell sarcoma of kidney Endometrial stromal sarcoma 2 0 YWHAE (1), NUTM2B (1) 0.20000 0.40000 1.265e-6 7.314e-6 225 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 7.314e-6 Cadasil Chilblain lupus erythematosus 2 1 TREX1 (5), ATRIP (1) 0.20000 0.40000 1.265e-6 7.314e-6 159 Aortic arch syndrome Birdshot chorioretinopathy 2 1 HLA-B (1), HLA-A (2) 0.20000 0.40000 1.265e-6 7.314e-6 179 Aplasia cutis congenita Other epidermolysis bullosa 2 2 PLEC (3), ITGB4 (3) 0.20000 0.40000 1.265e-6 7.314e-6 229 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 7.314e-6 49 Growth hormone-secreting pituitary adenoma Pituitary neoplasms 2 0 PRL (1), GH1 (1) 0.20000 0.40000 1.265e-6 7.314e-6 Hereditary sensory and motor neuropathy Neuropathy, congenital hypomyelinating 2 2 EGR2 (3), MPZ (5) 0.20000 0.40000 1.265e-6 7.314e-6 243 Asbestosis Oral submucous fibrosis 3 2 GSTT1 (2), TNF (2), GSTM1 (1) 0.08571 0.17647 1.260e-6 7.313e-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 7.258e-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 7.141e-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 7.081e-6 Corneal disease Keratoconus 4 1 COL5A1 (1), LRP1B (1), RXRA (1), ZNF469 (2) 0.03333 0.33333 1.211e-6 7.038e-6 Cystic kidney disease Senior-loken syndrome 3 3 CEP290 (6), SDCCAG8 (5), INVS (2) 0.08108 0.23077 1.209e-6 7.027e-6 8 Cutaneous lupus erythematosus Membranous glomerulonephritis 3 2 HLA-DQA1 (2), HLA-DRB1 (2), PSORS1C1 (1) 0.07500 0.27273 1.206e-6 7.013e-6 1 Aplastic anemia Fanconi anemia 4 2 GSTT1 (1), TNF (2), GSTM1 (1), FANCM (6) 0.05882 0.12500 1.200e-6 6.983e-6 Diabetes complications Diabetic angiopathies 3 3 VEGFA (2), PON1 (2), HP (2) 0.07895 0.25000 1.172e-6 6.818e-6 Diabetes complications Diabetic peripheral angiopathy 3 3 VEGFA (2), PON1 (2), HP (2) 0.07895 0.25000 1.172e-6 6.818e-6 Hemorrhage Liver failure 4 4 VEGFA (2), F2 (2), POMC (2), F7 (2) 0.05479 0.16667 1.169e-6 6.805e-6 Combined saposin deficiency Gaucher disease 2 1 PSAP (7), CDH23 (1) 0.11111 1.00000 1.147e-6 6.681e-6 114 Embryonal carcinoma Hodgkin disease 2 0 TNFRSF8 (1), TNFSF8 (1) 0.11111 1.00000 1.147e-6 6.681e-6 334 Atrichia with papular lesions Hypotrichosis 2 2 HR (6), HRURF (4) 0.11111 1.00000 1.147e-6 6.681e-6 Chondrodysplasia X-linked chondrodysplasia punctata 2 2 ARSL (6), EBP (5) 0.11111 1.00000 1.147e-6 6.681e-6 Coffin-siris syndrome Rhabdoid tumor predisposition syndrome 2 2 SMARCA4 (7), SMARCB1 (7) 0.11111 1.00000 1.147e-6 6.681e-6 Desmoid tumor Endometrial hyperplasia 2 2 CTNNB1 (2), APC (6) 0.16667 0.66667 1.138e-6 6.639e-6 Congenital afibrinogenemia Deep vein thrombosis 2 2 FGA (3), FGB (2) 0.16667 0.66667 1.138e-6 6.639e-6 156 Congenital fibrinogen deficiency Deep vein thrombosis 2 2 FGA (3), FGB (3) 0.16667 0.66667 1.138e-6 6.639e-6 156 Congenital hypofibrinogenemia Deep vein thrombosis 2 0 FGA (1), FGB (1) 0.16667 0.66667 1.138e-6 6.639e-6 156 Afibrinogenemia Deep vein thrombosis 2 2 FGA (2), FGB (2) 0.16667 0.66667 1.138e-6 6.639e-6 156 Beta-hydroxyisobutyryl-coa deacylase deficiency Deafness, x-linked 2 1 AIFM1 (4), RAB33A (1) 0.16667 0.66667 1.138e-6 6.639e-6 Angelman syndrome Bruxism 2 1 CDKL5 (3), MECP2 (1) 0.16667 0.66667 1.138e-6 6.639e-6 55 Brachycephaly Saethre-chotzen syndrome 2 2 FGFR3 (2), TWIST1 (6) 0.16667 0.66667 1.138e-6 6.639e-6 Brain edema Hematoma 2 0 S100B (1), PLAT (1) 0.16667 0.66667 1.138e-6 6.639e-6 29 Brain edema Spinal cord compression 2 2 TNF (2), PLAT (2) 0.16667 0.66667 1.138e-6 6.639e-6 29 Achondrogenesis Epiphyseal dysplasia 2 2 SLC26A2 (3), COL2A1 (5) 0.16667 0.66667 1.138e-6 6.639e-6 Deep vein thrombosis Heparin cofactor 2 deficiency 2 1 PI4KA (1), SERPIND1 (5) 0.16667 0.66667 1.138e-6 6.639e-6 Myelomonocytic leukemia Schimmelpenning-feuerstein-mims syndrome 2 2 KRAS (2), NRAS (2) 0.16667 0.66667 1.138e-6 6.639e-6 Combined immunodeficiency with granulomatosis Omenn syndrome 2 2 RAG1 (4), RAG2 (4) 0.16667 0.66667 1.138e-6 6.639e-6 176 Eating disorder Generalized anxiety disorder 5 0 ASB3 (1), MGMT (1), TMEM106B (1), ADGRL4 (1), IFI44 (1) 0.04630 0.12500 1.125e-6 6.585e-6 75 Anorexia Graves ophthalmopathy 3 3 IL2 (2), TNF (2), IL1RN (2) 0.08824 0.16667 1.083e-6 6.340e-6 153 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 6.293e-6 Larsen syndrome Marshall syndrome 3 1 XYLT2 (1), PLOD3 (1), GZF1 (3) 0.08824 0.17647 1.071e-6 6.277e-6 Cutaneous mastocytosis Secondary malignant neoplasm 3 0 HBE1 (1), HBG2 (1), OR51B5 (1) 0.08824 0.17647 1.071e-6 6.277e-6 237 Cortical dysplasia Focal cortical dysplasia 2 1 TBR1 (1), TSC1 (3) 0.20000 0.50000 1.062e-6 6.229e-6 Bonnevie-ullrich syndrome Ureteral calculi 2 2 CAT (2), SOD1 (2) 0.20000 0.50000 1.062e-6 6.229e-6 294 Breast disease Congenital foot deformity 2 2 TP63 (2), PTHLH (2) 0.20000 0.50000 1.062e-6 6.229e-6 30 Autoimmune polyendocrine syndrome Central nervous system non-hodgkin lymphoma 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.20000 0.50000 1.062e-6 6.229e-6 1 46,xy disorder of sex developmen Male pseudohypopituitarism 2 2 AKR1C2 (3), AKR1C4 (3) 0.20000 0.50000 1.062e-6 6.229e-6 363 Developmental venous anomaly Hereditary hemorrhagic telangiectasia 2 0 RASA1 (1), CCNH (1) 0.20000 0.50000 1.062e-6 6.229e-6 Arima syndrome Encephalocele 2 0 CC2D2A (1), CEP290 (1) 0.20000 0.50000 1.062e-6 6.229e-6 Arteriovenous hemangioma Hereditary hemorrhagic telangiectasia 2 1 ENG (7), RASA1 (1) 0.20000 0.50000 1.062e-6 6.229e-6 Arteriovenous hemangioma Congenital venous anomaly 2 0 GLMN (1), TEK (1) 0.20000 0.50000 1.062e-6 6.229e-6 257 Bestrophinopathy Iron overload 2 2 BEST1 (7), FTH1 (2) 0.20000 0.50000 1.062e-6 6.229e-6 Intestinal disaccharide malabsorption Prediabetes 2 0 HK1 (1), GCK (1) 0.20000 0.50000 1.062e-6 6.229e-6 Autoimmune polyendocrine syndrome Vogt-koyanagi-harada disease 2 2 HLA-DQA1 (2), HLA-DRB1 (3) 0.20000 0.50000 1.062e-6 6.229e-6 1 Central nervous system non-hodgkin lymphoma Waldenstrom macroglobulinemia 2 0 EXOC2 (1), IRF4 (1) 0.20000 0.50000 1.062e-6 6.229e-6 1 Fanconi anemia Pituitary stalk interruption syndrome 4 4 FANCD2 (7), FANCA (7), FANCG (6), SLX4 (8) 0.05970 0.12903 1.052e-6 6.192e-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 6.192e-6 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 6.172e-6 Cachexia Hepatolenticular degeneration 3 2 TNF (2), IL6 (2), CXCL8 (1) 0.08108 0.25000 1.047e-6 6.164e-6 43 Aortic stenosis Neoplasms 5 0 ARHGAP24 (1), FADS1 (1), FADS2 (1), MYRF (1), TMEM258 (1) 0.04854 0.10638 1.025e-6 6.041e-6 Congenital malformation syndromes predominantly involving limbs Vacterl association 2 0 DLX5 (1), SMOC1 (1) 0.11765 1.00000 1.012e-6 5.965e-6 195 Combined osteogenesis imperfecta and ehlers-danlos syndrome Dentinogenesis imperfecta 2 2 COL1A1 (4), COL1A2 (4) 0.11765 1.00000 1.012e-6 5.965e-6 ehlers-danlos syndrome, classic type Loeys-dietz syndrome 2 2 COL5A1 (2), COL5A2 (2) 0.11765 1.00000 1.012e-6 5.965e-6 Encephalopathy due to mitochondrial and peroxisomal fission defect Mitochondrial encephalomyopathy 2 2 DNM1L (4), MFF (2) 0.11765 1.00000 1.012e-6 5.965e-6 Hemophilia a Hemophilia b 2 1 F2 (1), F9 (7) 0.11765 1.00000 1.012e-6 5.965e-6 Genetic predisposition to disease Testicular neoplasms 3 0 ERCC1 (1), ERCC4 (1), BAP1 (1) 0.05660 0.42857 9.864e-7 5.820e-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 5.731e-6 Pancreatic ductal carcinoma Uterine neoplasms 4 0 NOTCH1 (1), VEGFA (1), KRAS (1), HES1 (1) 0.06061 0.12903 9.457e-7 5.584e-6 Autoimmune hepatitis Hyperplasia 4 4 LEP (2), TGFB1 (2), IL13 (2), IL9 (2) 0.06061 0.12903 9.457e-7 5.584e-6 Hemorrhage Platelet disorder 3 3 ITGB3 (2), FERMT3 (2), STXBP2 (2) 0.08571 0.23077 9.418e-7 5.564e-6 Iron metabolism disorder Neurodegeneration with brain iron accumulation 3 3 CP (4), FTL (4), FTH1 (5) 0.08824 0.21429 9.121e-7 5.390e-6 Intestinal perforation Optic neuropathy 2 1 NOS3 (2), IFNA2 (1) 0.18182 0.66667 9.108e-7 5.383e-6 Hemoglobin m disease Polycythemia vera 2 2 HBA1 (4), HBB (5) 0.18182 0.66667 9.108e-7 5.383e-6 24 Polycythemia vera Unstable hemoglobin disease 2 2 HBA1 (3), HBB (5) 0.18182 0.66667 9.108e-7 5.383e-6 24 progressive myoclonus epilepsy Unverricht-lundborg syndrome 2 2 SCARB2 (3), PRICKLE1 (3) 0.18182 0.66667 9.108e-7 5.383e-6 339 Acute disseminated encephalomyelitis Pulmonary alveolar proteinosis 2 1 HLA-DRB1 (1), HLA-DRB5 (2) 0.18182 0.66667 9.108e-7 5.383e-6 Bone osteosarcoma Small cell carcinoma 2 2 TP53 (2), RB1 (2) 0.18182 0.66667 9.108e-7 5.383e-6 Leukocyte disorders Splenic disease 2 2 FAS (2), PLG (3) 0.18182 0.66667 9.108e-7 5.383e-6 246 Congenital afibrinogenemia Thromboembolic pulmonary hypertension 2 2 FGA (3), FGG (2) 0.18182 0.66667 9.108e-7 5.383e-6 156 Congenital fibrinogen deficiency Thromboembolic pulmonary hypertension 2 2 FGA (4), FGG (3) 0.18182 0.66667 9.108e-7 5.383e-6 156 Congenital hypofibrinogenemia Thromboembolic pulmonary hypertension 2 2 FGA (2), FGG (2) 0.18182 0.66667 9.108e-7 5.383e-6 156 Afibrinogenemia Thromboembolic pulmonary hypertension 2 2 FGA (2), FGG (2) 0.18182 0.66667 9.108e-7 5.383e-6 156 Venous hypertension Venous insufficiency 2 0 SLC19A2 (1), F5 (1) 0.18182 0.66667 9.108e-7 5.383e-6 84 Cerebral thrombosis Von willebrand disorder 2 1 PLAT (1), VWF (8) 0.18182 0.66667 9.108e-7 5.383e-6 Ellis-van creveld syndrome Weyers acrofacial dysostosis 2 2 EVC (7), EVC2 (7) 0.18182 0.66667 9.108e-7 5.383e-6 233 Anencephaly Hydrolethalus syndrome 2 1 HYLS1 (7), PUS3 (1) 0.18182 0.66667 9.108e-7 5.383e-6 Clinodactyly Micrognathism 3 0 DYNC2H1 (1), SATB2 (1), RPS6KA3 (1) 0.09091 0.17647 9.028e-7 5.359e-6 197 Thyroid cancer Thyroid carcinoma 3 0 TRMO (1), NRG1 (1), PCNX2 (1) 0.07143 0.33333 8.953e-7 5.316e-6 Uterine prolapse Visual system disorder 2 0 EFEMP1 (1), PNPT1 (1) 0.12500 1.00000 8.858e-7 5.261e-6 152 Baraitser-winter cerebrofrontofacial syndrome Coloboma 2 2 ACTB (6), ACTG1 (7) 0.12500 1.00000 8.858e-7 5.261e-6 Atrophy Neuronal ceroid lipofuscinosis 3 3 MAPK3 (2), RPS6KB1 (2), CLN6 (7) 0.07692 0.30000 8.782e-7 5.219e-6 Membranous glomerulonephritis Toxic epidermal necrolysis 4 1 POU5F1 (1), HLA-B (2), PSORS1C1 (1), TCF19 (1) 0.06154 0.12903 8.474e-7 5.037e-6 Sotos syndrome Weaver syndrome 2 1 NSD1 (8), PIK3CA (1) 0.22222 0.40000 8.433e-7 5.014e-6 Li-fraumeni syndrome Sapho syndrome 2 2 TP53 (7), MDM2 (3) 0.22222 0.40000 8.433e-7 5.014e-6 Li-fraumeni syndrome Urogenital neoplasms 2 2 TP53 (7), CDKN2A (3) 0.22222 0.40000 8.433e-7 5.014e-6 Hemoglobin e disease Thalassemia 2 2 HBB (3), HBD (2) 0.22222 0.40000 8.433e-7 5.014e-6 Commissural facial cleft Congenital iris coloboma 2 2 PAX6 (2), SALL2 (4) 0.22222 0.40000 8.433e-7 5.014e-6 25 Chordoma Hereditary breast-ovarian cancer syndrome 2 2 PALB2 (2), BRCA2 (4) 0.22222 0.40000 8.433e-7 5.014e-6 Butterfly-shaped pigmentary macular dystrophy Vitelliform macular dystrophy 2 1 PRPH2 (4), HTRA1 (1) 0.22222 0.40000 8.433e-7 5.014e-6 Congenital short qt syndrome Long qt syndrome, digenic 2 2 KCNH2 (2), KCNQ1 (2) 0.22222 0.40000 8.433e-7 5.014e-6 Non-organic psychosis Substance-induced psychosis 4 4 GSTP1 (2), NPY1R (2), OPRM1 (2), PICK1 (2) 0.04819 0.23529 8.410e-7 5.012e-6 Bone neoplasms Carotid artery disease 4 4 PLAU (2), MMP9 (2), MMP2 (2), LTA (2) 0.05479 0.19048 8.333e-7 4.968e-6 Promyelocytic leukemia Systemic mastocytosis 4 4 ABCA1 (2), TET2 (2), KIT (2), ASXL1 (2) 0.05714 0.17391 8.323e-7 4.963e-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 4.823e-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 4.769e-6 Angle closure glaucoma Graft-versus-host disease 3 1 MTHFR (2), GSTM1 (1), HGF (1) 0.09091 0.21429 7.881e-7 4.704e-6 Methylmalonic acidemia Vitamin b12 deficiency 3 3 CD320 (7), MMAA (8), MMUT (8) 0.08333 0.27273 7.859e-7 4.692e-6 Movement disorder Visual disorder 4 4 TSEN2 (2), TSEN54 (2), ATXN7 (2), TSEN34 (2) 0.05405 0.20000 7.821e-7 4.670e-6 Lymphocytic b-cell leukemia Sarcoma 4 2 TP53 (2), BCL2 (1), IL6 (1), ATM (2) 0.06250 0.12121 7.746e-7 4.627e-6 Lymphoproliferative syndrome X-linked lymphoproliferative syndrome 2 2 XIAP (7), SH2D1A (7) 0.13333 1.00000 7.677e-7 4.587e-6 405 Apoceruloplasmin deficiency Hemochromatosis 2 2 CP (2), SLC40A1 (5) 0.13333 1.00000 7.677e-7 4.587e-6 Neurodegeneration with brain iron accumulation Vitreoretinochoroidopathy 2 2 BEST1 (5), FTH1 (5) 0.13333 1.00000 7.677e-7 4.587e-6 Aniridia-cerebellar ataxia-intellectual disability syndrome Anterior segment mesenchymal dysgenesis 2 2 ITPR1 (4), PAX6 (3) 0.13333 1.00000 7.677e-7 4.587e-6 Cleft palate and bilateral cleft lip Congenital cardiomyopathy 2 0 ND5 (1), ND4 (1) 0.13333 1.00000 7.677e-7 4.587e-6 26 Distal myopathy Welander distal myopathy 2 2 SQSTM1 (3), TIA1 (6) 0.13333 1.00000 7.677e-7 4.587e-6 Cartilage disease Otospondylomegaepiphyseal dysplasia 2 2 COL2A1 (3), COL11A2 (4) 0.13333 1.00000 7.677e-7 4.587e-6 Coronary restenosis Mitral valve disease 2 2 ACE (2), MTHFR (2) 0.13333 1.00000 7.677e-7 4.587e-6 60 Coronary restenosis Rheumatic disease of mitral valve 2 2 ACE (2), MTHFR (2) 0.13333 1.00000 7.677e-7 4.587e-6 60 Coronary restenosis Rheumatic mitral regurgitation 2 2 ACE (2), MTHFR (2) 0.13333 1.00000 7.677e-7 4.587e-6 60 Cleft palate and bilateral cleft lip Deafness, sensorineural, autosomal-mitochondrial type 2 1 ND1 (1), COX1 (2) 0.13333 1.00000 7.677e-7 4.587e-6 autosomal recessive limb-girdle muscular dystrophy Sarcoglycanopathies 2 2 SGCA (3), SGCG (2) 0.13333 1.00000 7.677e-7 4.587e-6 131 Autoimmune polyendocrine syndrome Cold paroxysmal hemoglobinuria 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.22222 0.50000 7.590e-7 4.550e-6 Central nervous system disease Diabetes microvascular complications 2 2 EPO (2), SOD2 (3) 0.22222 0.50000 7.590e-7 4.550e-6 163 Cerebral cavernous malformation Developmental venous anomaly 2 2 PDCD10 (7), CCM2 (7) 0.22222 0.50000 7.590e-7 4.550e-6 249 Autoimmune polyendocrine syndrome Cervical intraepithelial neoplasia 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 1 Cervical intraepithelial neoplasia Esophageal achalasia 2 2 HLA-DQA1 (3), HLA-DQB1 (3) 0.22222 0.50000 7.590e-7 4.550e-6 1 Cervical intraepithelial neoplasia Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 1 Autoimmune polyendocrine syndrome Cryoglobulinemia 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 1 Cryoglobulinemia Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 1 Autoimmune polyendocrine syndrome Diabetic nephropathy type 1 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 1 Diabetic nephropathy type 1 Esophageal achalasia 2 2 HLA-DQA1 (3), HLA-DQB1 (3) 0.22222 0.50000 7.590e-7 4.550e-6 1 Diabetic nephropathy type 1 Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 1 Budd-chiari syndrome Thrombocytosis 2 2 JAK2 (4), CALR (3) 0.22222 0.50000 7.590e-7 4.550e-6 Cafe-au-lait spots Neurofibromatosis 2 2 NF1 (6), SPRED1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 71 Cafe-au-lait spots Neurofibromatosis-noonan syndrome 2 2 NF1 (6), SPRED1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 71 Carotid artery thrombosis Thrombasthenia 2 2 ITGB3 (2), ITGA2B (2) 0.22222 0.50000 7.590e-7 4.550e-6 67 Autoimmune polyendocrine syndrome Hemoglobinuria paroxysmal 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.22222 0.50000 7.590e-7 4.550e-6 Autoimmune polyendocrine syndrome Paroxysmal nocturnal hemoglobinuria 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.22222 0.50000 7.590e-7 4.550e-6 Primary graft dysfunction Vascular remodeling 2 0 GATA2 (1), SENP1 (1) 0.22222 0.50000 7.590e-7 4.550e-6 126 Intestinal pseudo-obstruction Visceral neuropathy 2 1 NDE1 (1), ACTG2 (2) 0.22222 0.50000 7.590e-7 4.550e-6 426 Cold paroxysmal hemoglobinuria Esophageal achalasia 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.22222 0.50000 7.590e-7 4.550e-6 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 4.550e-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 4.526e-6 Peripheral vascular disease Venous insufficiency 3 0 ABO (1), SLC19A2 (1), F5 (1) 0.07500 0.33333 7.468e-7 4.506e-6 Lipoma Meningioma 3 3 PTEN (2), TERT (2), BAP1 (2) 0.08824 0.25000 7.252e-7 4.377e-6 Blood coagulation disorder Lipoma 3 1 SLC19A2 (1), F5 (3), NME7 (1) 0.08824 0.25000 7.252e-7 4.377e-6 Immunodeficiency Interferon gamma receptor deficiency 3 2 IFNGR2 (5), IFNGR1 (5), TMEM50B (1) 0.02143 1.00000 7.200e-7 4.348e-6 10 Erythematosquamous dermatosis Oculocutaneous albinism 3 3 TYR (6), MC1R (5), SLC45A2 (6) 0.09091 0.23077 7.173e-7 4.333e-6 Gastritis Optic neuritis 3 1 HLA-DRB1 (1), GSTM1 (1), HLA-DQB1 (2) 0.09091 0.23077 7.173e-7 4.333e-6 1 Bouillaud’s disease Obstructive asthma 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.20000 0.66667 7.084e-7 4.282e-6 1 Shprintzen-goldberg syndrome Thoracoabdominal aortic aneurysm 2 2 SKI (6), FBN1 (4) 0.20000 0.66667 7.084e-7 4.282e-6 64 Mesangiocapillary glomerulonephritis Thrombotic microangiopathy 2 2 CFI (2), CFH (2) 0.20000 0.66667 7.084e-7 4.282e-6 32 Ruptured abdominal aortic aneurysm Shprintzen-goldberg syndrome 2 2 SKI (6), FBN1 (4) 0.20000 0.66667 7.084e-7 4.282e-6 64 Ruptured aortic aneurysm Shprintzen-goldberg syndrome 2 2 SKI (6), FBN1 (4) 0.20000 0.66667 7.084e-7 4.282e-6 64 Ruptured thoracic aortic aneurysm Shprintzen-goldberg syndrome 2 2 SKI (6), FBN1 (4) 0.20000 0.66667 7.084e-7 4.282e-6 64 Chromosome y microdeletion syndrome Male infertility y chromosome microdeletion 2 2 TSPY1 (2), USP9Y (2) 0.20000 0.66667 7.084e-7 4.282e-6 Adult myoclonic epilepsy Benign adult familial myoclonic epilepsy 2 2 ADRA2B (2), SAMD12 (2) 0.20000 0.66667 7.084e-7 4.282e-6 284 Aicardi goutieres syndrome Chilblain lupus 2 2 SAMHD1 (4), TREX1 (3) 0.20000 0.66667 7.084e-7 4.282e-6 Angiokeratoma Cavernous malformations of cns 2 0 ANKIB1 (1), KRIT1 (1) 0.20000 0.66667 7.084e-7 4.282e-6 249 Bile duct cancer Liver cancer 2 0 MAPK1 (1), YPEL1 (1) 0.20000 0.66667 7.084e-7 4.282e-6 C3 glomerulonephritis Thrombotic microangiopathy 2 2 CFI (3), CFH (3) 0.20000 0.66667 7.084e-7 4.282e-6 32 Atypical hemolytic uremic syndrome C3 glomerulonephritis 2 2 CFI (3), CFH (3) 0.20000 0.66667 7.084e-7 4.282e-6 32 Calcium metabolism disorders Chondrocalcinosis 2 1 ANKH (5), OTULIN (1) 0.20000 0.66667 7.084e-7 4.282e-6 208 Calcium metabolism disorders Craniometaphyseal dysplasia 2 1 ANKH (6), OTULIN (1) 0.20000 0.66667 7.084e-7 4.282e-6 208 Capillary malformation Capillary malformation-arteriovenous malformation 2 2 GNAQ (3), PIK3CA (2) 0.20000 0.66667 7.084e-7 4.282e-6 65 Capillary malformation-arteriovenous malformation Parkes weber syndrome 2 1 RASA1 (7), CCNH (1) 0.20000 0.66667 7.084e-7 4.282e-6 65 Double outlet right ventricle Right atrial isomerism 2 1 CERS1 (1), GDF1 (4) 0.20000 0.66667 7.084e-7 4.282e-6 56 Early onset vitamin b6 dependent epilepsy Pyridoxine dependent epilepsy 2 2 ALDH7A1 (4), PLPBP (4) 0.20000 0.66667 7.084e-7 4.282e-6 Cardiovascular abnormalities Urethral obstruction 3 3 AGT (2), NOS2 (2), EDN1 (2) 0.08571 0.27273 6.989e-7 4.247e-6 Gastric ulcer Sleep apnea 5 0 NOS3 (1), TNF (1), NRG1 (1), ABO (1), MMP9 (1) 0.05102 0.10204 6.770e-7 4.116e-6 Nephrosclerosis Oral submucous fibrosis 3 3 TGFB1 (2), COL1A1 (2), FGF2 (2) 0.09375 0.21429 6.759e-7 4.110e-6 Nephrotic syndrome, steroid-resistant, autosomal recessive Steroid-resistant nephrotic syndrome 2 0 AXDND1 (1), NPHS2 (1) 0.14286 1.00000 6.580e-7 4.002e-6 20 Optic neuritis Visual system disorder 2 0 EFEMP1 (1), PNPT1 (1) 0.14286 1.00000 6.580e-7 4.002e-6 Cholesterol embolism Intracranial hemorrhage 2 2 PLAU (2), PLAT (2) 0.14286 1.00000 6.580e-7 4.002e-6 29 Intracranial embolism and thrombosis Intracranial hemorrhage 2 2 PLAU (2), PLAT (2) 0.14286 1.00000 6.580e-7 4.002e-6 29 Deafness-enamel hypoplasia-nail defects syndrome Zellweger spectrum disorder 2 2 PEX6 (2), PEX1 (2) 0.14286 1.00000 6.580e-7 4.002e-6 141 Deafness enamel hypoplasia nail defects Zellweger spectrum disorder 2 2 PEX6 (3), PEX1 (3) 0.14286 1.00000 6.580e-7 4.002e-6 141 Benign recurrent intrahepatic cholestasis Progressive intrahepatic cholestasis 2 2 ATP8B1 (4), ABCB11 (4) 0.14286 1.00000 6.580e-7 4.002e-6 135 Branchiootic syndrome Congenital abnormalities 2 2 EYA1 (6), SIX1 (6) 0.14286 1.00000 6.580e-7 4.002e-6 134 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia 2 2 MPL (6), THPO (5) 0.14286 1.00000 6.580e-7 4.002e-6 98 Congenital cardiomyopathy Neuropathy, ataxia, and retinitis pigmentosa 2 0 ND5 (1), ND4 (1) 0.14286 1.00000 6.580e-7 4.002e-6 26 Amegakaryocytic thrombocytopenia Essential thrombocythemia 2 2 MPL (3), THPO (3) 0.14286 1.00000 6.580e-7 4.002e-6 98 Deafness, sensorineural, autosomal-mitochondrial type Neuropathy, ataxia, and retinitis pigmentosa 2 1 ND1 (1), COX1 (2) 0.14286 1.00000 6.580e-7 4.002e-6 Kidney neoplasms Sezary syndrome 4 0 BRAF (1), MAPK1 (1), CDKN1B (1), IL32 (1) 0.06250 0.14815 6.561e-7 4.002e-6 214 Clonal hematopoiesis Myelodysplastic syndrome 5 3 GATA2 (4), RUNX1 (2), TERT (1), JAK2 (1), DLK1 (2) 0.05102 0.10870 6.485e-7 3.960e-6 98 Sickle cell anemia Spherocytosis 3 3 CAD (2), UMPS (2), DHODH (2) 0.08333 0.30000 6.407e-7 3.913e-6 Fuchs endothelial dystrophy Hereditary corneal dystrophy 3 3 COL8A2 (3), ZEB1 (3), SLC4A11 (3) 0.09091 0.25000 6.349e-7 3.878e-6 87 Aplasia of the vermis Dandy-walker syndrome 4 0 HYLS1 (1), PIBF1 (1), CSPP1 (1), ARMC9 (1) 0.05634 0.20000 6.277e-7 3.836e-6 8 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 3.793e-6 144 Brain neoplasms Diabetic angiopathies 4 4 VEGFA (2), PON1 (2), SOD2 (2), RELA (2) 0.06349 0.14286 6.187e-7 3.783e-6 Charcot-marie-tooth disease Navajo neurohepatopathy 3 1 UCN (1), MPV17 (6), TRIM54 (1) 0.02256 1.00000 6.159e-7 3.767e-6 Dermatomyositis Irritant dermatitis 3 3 C2 (2), HLA-DPB1 (3), HLA-DPA1 (3) 0.07895 0.33333 6.156e-7 3.766e-6 22 Hypohidrotic ectodermal dysplasia Tooth agenesis 3 3 LRP6 (6), WNT10A (7), EDARADD (3) 0.06522 0.42857 6.088e-7 3.726e-6 76 Melas syndrome Mitochondrial myopathy 3 3 IL1A (2), IL1B (2), CYTB (2) 0.09677 0.20000 6.050e-7 3.703e-6 26 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 3.572e-6 Kidney neoplasms Mouth neoplasms 5 0 ATP7B (1), SOD2 (1), PTGS2 (1), NDRG1 (1), TSC2 (1) 0.05051 0.12500 5.748e-7 3.521e-6 Cerebral hemorrhage Learning disorders 4 4 APP (2), VEGFA (2), BCL2 (2), HMOX1 (2) 0.06452 0.13793 5.732e-7 3.512e-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 3.512e-6 124 Endometrial hyperplasia Sezary syndrome 3 3 PTEN (2), TP53 (2), CDKN2A (2) 0.08571 0.30000 5.723e-7 3.508e-6 Delirium Hepatolenticular degeneration 3 3 APOE (3), IL6 (2), CXCL8 (2) 0.08571 0.30000 5.723e-7 3.508e-6 Distal muscular dystrophy Neuromuscular disease 3 0 LDB3 (1), MYH7 (1), TTN (1) 0.06667 0.42857 5.643e-7 3.462e-6 Microphthalmia with retinitis pigmentosa and ocular anomalies Nanophthalmos 2 1 MFRP (6), C1QTNF5 (1) 0.15385 1.00000 5.568e-7 3.416e-6 52 Periventricular nodular heterotopia Van maldergem syndrome 2 2 FAT4 (5), DCHS1 (6) 0.15385 1.00000 5.568e-7 3.416e-6 Congenital short bowel syndrome Intestinal obstruction 2 2 FLNA (4), CLMP (5) 0.15385 1.00000 5.568e-7 3.416e-6 42 Cholesterol embolism Thromboembolism 2 2 PLAU (2), PLAT (2) 0.15385 1.00000 5.568e-7 3.416e-6 Megaloblastic anemia Transcobalamin deficiency 2 2 TCN2 (7), TCN1 (3) 0.15385 1.00000 5.568e-7 3.416e-6 100 Transcobalamin deficiency Vitamin b deficiency 2 2 TCN2 (7), TCN1 (2) 0.15385 1.00000 5.568e-7 3.416e-6 100 Cerebrofacioarticular syndrome Periventricular nodular heterotopia 2 2 FAT4 (3), DCHS1 (3) 0.15385 1.00000 5.568e-7 3.416e-6 Coenzyme q10 deficiency Primary coenzyme q10 deficiency 2 2 COQ6 (5), COQ7 (5) 0.15385 1.00000 5.568e-7 3.416e-6 399 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 3.416e-6 12 Autoinflammatory disease, systemic, x-linked Congenital nonspherocytic hemolytic anemia 2 2 G6PD (6), IKBKG (3) 0.15385 1.00000 5.568e-7 3.416e-6 12 Bloch sulzberger syndrome Congenital nonspherocytic hemolytic anemia 2 1 G6PD (6), IKBKG (1) 0.15385 1.00000 5.568e-7 3.416e-6 12 Congenital structural myopathy X-linked centronuclear myopathy 2 1 MTM1 (2), DNM2 (1) 0.15385 1.00000 5.568e-7 3.416e-6 Curry-hall syndrome Majewski syndrome 2 2 EVC (2), EVC2 (2) 0.15385 1.00000 5.568e-7 3.416e-6 Atrioventricular septal defect Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 2 2 GATA4 (6), GATA6 (6) 0.15385 1.00000 5.568e-7 3.416e-6 106 Atrioventricular septal defect Partial atrioventricular canal defect 2 2 GATA4 (5), CRELD1 (6) 0.15385 1.00000 5.568e-7 3.416e-6 106 Congenital hereditary endothelial dystrophy Hereditary corneal dystrophy 2 2 OVOL2 (2), SLC4A11 (4) 0.15385 1.00000 5.568e-7 3.416e-6 87 Camos syndrome Galloway-mowat syndrome 2 2 ZNF592 (2), WDR73 (8) 0.15385 1.00000 5.568e-7 3.416e-6 20 Retinal degeneration Stargardt disease 4 4 CRX (2), RPE65 (2), RHO (2), RDH12 (2) 0.06452 0.14286 5.542e-7 3.416e-6 7 Nasopharyngeal carcinoma Papilloma 3 0 SOD2 (1), ERBB2 (1), CCND1 (1) 0.09375 0.25000 5.523e-7 3.407e-6 Febrile convulsion Lennox-gastaut syndrome 3 2 GABRG2 (5), SCN1A (3), SCN2A (1) 0.09375 0.25000 5.523e-7 3.407e-6 228 B-cell chronic lymphocytic leukemia Lymphocytic b-cell leukemia 3 3 TP53 (2), ATM (2), P2RX7 (2) 0.07500 0.37500 5.467e-7 3.374e-6 Hematuria Hemorrhage 3 3 PLAU (2), POMC (2), F7 (2) 0.09091 0.27273 5.445e-7 3.362e-6 Hematoma Intracranial vasospasm 2 2 S100B (2), PLAT (2) 0.22222 0.66667 5.313e-7 3.282e-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 3.282e-6 Hereditary hemorrhagic telangiectasia Parkes weber syndrome 2 1 RASA1 (4), CCNH (1) 0.22222 0.66667 5.313e-7 3.282e-6 65 Epidermal nevus Seminoma 2 2 FGFR3 (3), HRAS (3) 0.22222 0.66667 5.313e-7 3.282e-6 17 Follicular thyroid cancer Schimmelpenning-feuerstein-mims syndrome 2 2 NRAS (2), HRAS (2) 0.22222 0.66667 5.313e-7 3.282e-6 17 Gallbladder disease Sitosterolemia 2 2 ABCG8 (7), ABCG5 (7) 0.22222 0.66667 5.313e-7 3.282e-6 Rippling muscle disease Tubular aggregate myopathy 2 1 OXTR (1), CAV3 (6) 0.22222 0.66667 5.313e-7 3.282e-6 349 Klippel-trenaunay syndrome Parkes weber syndrome 2 1 RASA1 (4), CCNH (1) 0.22222 0.66667 5.313e-7 3.282e-6 65 Nausea Orthostatic hypotension 2 2 OPRM1 (2), ABCB1 (2) 0.22222 0.66667 5.313e-7 3.282e-6 Nonmedullary thyroid cancer Schimmelpenning-feuerstein-mims syndrome 2 2 NRAS (2), HRAS (2) 0.22222 0.66667 5.313e-7 3.282e-6 17 Ferroxidase deficiency Iron overload 2 2 CP (3), SLC40A1 (2) 0.22222 0.66667 5.313e-7 3.282e-6 188 Capillary malformation Klippel-trenaunay syndrome 2 1 GNAQ (1), PIK3CA (2) 0.22222 0.66667 5.313e-7 3.282e-6 65 Bouillaud’s disease Vogt-koyanagi-harada disease 2 2 HLA-DQA1 (2), HLA-DRB1 (3) 0.22222 0.66667 5.313e-7 3.282e-6 1 Skeletal system disease Vogt-koyanagi-harada disease 2 1 HLA-DQA1 (1), HLA-DRB1 (2) 0.22222 0.66667 5.313e-7 3.282e-6 1 Vogt-koyanagi-harada disease Wheat allergic reaction 2 1 HLA-DQA1 (1), HLA-DRB1 (2) 0.22222 0.66667 5.313e-7 3.282e-6 1 Ataxia with vitamin e deficiency Hypoalphalipoproteinemia 2 2 APOA1 (5), APOB (3) 0.22222 0.66667 5.313e-7 3.282e-6 293 Bouillaud’s disease Central nervous system non-hodgkin lymphoma 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.22222 0.66667 5.313e-7 3.282e-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 3.282e-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 3.282e-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 3.282e-6 1 Chromosome 3p25 monosomy Tubular aggregate myopathy 2 2 OXTR (2), CAV3 (2) 0.22222 0.66667 5.313e-7 3.282e-6 349 Diencephalic mesencephalic junction dysplasia Exudative retinopathy 2 1 PCDH12 (5), RNF14 (1) 0.22222 0.66667 5.313e-7 3.282e-6 Distal muscular dystrophy Multiminicore myopathy 2 2 MYH7 (2), TTN (2) 0.22222 0.66667 5.313e-7 3.282e-6 Acromesomelic dysplasia Geleophysic dysplasia 2 2 FBN1 (6), LTBP3 (6) 0.22222 0.66667 5.313e-7 3.282e-6 28 Brain neoplasms Rhabdomyosarcoma 4 1 VEGFA (1), YAP1 (1), PTCH1 (1), HRAS (2) 0.06452 0.14815 5.312e-7 3.282e-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 3.173e-6 Bestrophinopathy Vitelliform macular dystrophy 2 2 BEST1 (7), PRPH2 (3) 0.25000 0.50000 5.060e-7 3.149e-6 Congenital short qt syndrome Paroxysmal atrial fibrillation 2 2 KCNQ1 (2), CACNA2D1 (2) 0.25000 0.50000 5.060e-7 3.149e-6 Craniofacial ulnar renal syndrome Oculopalatosekeletal syndrome 2 2 COLEC11 (2), MASP1 (2) 0.25000 0.50000 5.060e-7 3.149e-6 292 Cyanosis Delta-beta thalassemia 2 2 HBB (4), HBG2 (4) 0.25000 0.50000 5.060e-7 3.149e-6 18 Delta-beta thalassemia Hemoglobin e disease 2 2 HBB (3), HBD (4) 0.25000 0.50000 5.060e-7 3.149e-6 18 Delta-beta thalassemia Thalassemia 2 2 HBB (3), HBD (3) 0.25000 0.50000 5.060e-7 3.149e-6 Cleft eyelid Commissural facial cleft 2 2 PAX6 (2), SALL2 (4) 0.25000 0.50000 5.060e-7 3.149e-6 25 Paroxysmal dyskinesia Paroxysmal nonkinesigenic dyskinesia 2 2 PRRT2 (3), KCNA1 (2) 0.25000 0.50000 5.060e-7 3.149e-6 85 Dysfibrinogenemia Hyper-immunoglobulin m syndrome 2 0 CD40LG (1), UNG (1) 0.25000 0.50000 5.060e-7 3.149e-6 Intestinal pseudo-obstruction Visceral myopathy 2 2 MYH11 (4), ACTG2 (6) 0.25000 0.50000 5.060e-7 3.149e-6 426 Hemangiosarcoma Osteosarcoma 4 1 TP53 (2), VEGFA (1), JUN (1), MYC (1) 0.05556 0.22222 4.967e-7 3.101e-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 3.101e-6 Retinal detachment Retinitis punctata albescens 3 2 EYS (1), RDH5 (3), RHO (2) 0.06000 0.50000 4.959e-7 3.098e-6 Lymphoma Myelodysplastic syndrome 5 0 CDKN2B (1), IRF4 (1), KRAS (1), CFLAR (1), EZH2 (1) 0.05263 0.10870 4.905e-7 3.064e-6 Granulomatosis with polyangiitis Graves ophthalmopathy 3 2 IL10 (1), CTLA4 (2), PTPN22 (2) 0.10000 0.21429 4.843e-7 3.027e-6 153 Ataxia Idiopathic generalized epilepsy 3 3 GABRA1 (3), CACNB4 (2), SLC2A1 (2) 0.09677 0.25000 4.772e-7 2.983e-6 227 Autoimmune musculoskeletal system disorder Crest syndrome 3 1 HLA-DRB1 (2), STAT4 (1), TNPO3 (1) 0.09677 0.25000 4.772e-7 2.983e-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 2.940e-6 214 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 2.907e-6 Combined saposin deficiency Retinitis pigmentosa-deafness syndrome 2 1 PSAP (3), CDH23 (1) 0.16667 1.00000 4.640e-7 2.904e-6 Ovarian agenesis Testicular hydrocele 2 0 DIPK1A (1), RPL5 (1) 0.16667 1.00000 4.640e-7 2.904e-6 240 Transcobalamin deficiency Vitamin b12 deficiency 2 2 TCN2 (7), TCN1 (2) 0.16667 1.00000 4.640e-7 2.904e-6 100 Erythroid hypoplasia Testicular hydrocele 2 0 DIPK1A (1), RPL5 (1) 0.16667 1.00000 4.640e-7 2.904e-6 240 Glanzmann thrombasthenia Macrothrombocytopenia 2 2 ITGB3 (8), ITGA2B (8) 0.16667 1.00000 4.640e-7 2.904e-6 67 Macrothrombocytopenia platelet-type bleeding disorder 16 2 2 ITGB3 (3), ITGA2B (3) 0.16667 1.00000 4.640e-7 2.904e-6 67 Congenital neck anomaly Deglutition disorder 2 0 RIF1 (1), NEB (1) 0.16667 1.00000 4.640e-7 2.904e-6 333 Cushing's disease Pituitary adenoma 2 2 AIP (3), CDH23 (2) 0.16667 1.00000 4.640e-7 2.904e-6 Cantu syndrome Hypertrichosis 2 2 ABCC9 (7), KCNJ8 (3) 0.16667 1.00000 4.640e-7 2.904e-6 234 Anaplasia Ductal carcinoma 2 0 CA9 (1), HIF1A (1) 0.16667 1.00000 4.640e-7 2.904e-6 99 Atelis syndrome Mosaic variegated aneuploidy 2 2 SLF2 (4), SMC5 (4) 0.16667 1.00000 4.640e-7 2.904e-6 Benign epithelial tumor of salivary glands Silver-russell syndrome 2 2 HMGA2 (6), PLAG1 (5) 0.16667 1.00000 4.640e-7 2.904e-6 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 2.904e-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 2.904e-6 Neuropathy Optic neuritis 3 0 ATP7B (1), EFEMP1 (1), PNPT1 (1) 0.10000 0.23077 4.520e-7 2.841e-6 Hypercalcemia Hyperparathyroidism 3 3 IL6 (2), PTH (2), CASR (3) 0.10000 0.23077 4.520e-7 2.841e-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 2.831e-6 Lymphoid leukemia Osteomyelitis 3 3 TERT (2), HLA-DQB1 (2), MYNN (2) 0.08571 0.33333 4.490e-7 2.825e-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 2.822e-6 50 Ciliary dyskinesia Teratozoospermia 5 5 HYDIN (7), DNAH10 (3), CFAP43 (2), DNAH1 (6), TTC12 (6) 0.04425 0.18519 4.447e-7 2.800e-6 Carotid artery disease Giant cell arteritis 4 1 TLR4 (1), MMP9 (1), CCL2 (2), MMP2 (1) 0.05714 0.22222 4.295e-7 2.704e-6 Heterotaxy syndrome Transposition of the great arteries 3 2 CFC1 (5), CERS1 (1), GDF1 (2) 0.09677 0.27273 4.146e-7 2.611e-6 Membranous glomerulonephritis Pemphigus 3 3 HLA-DQA1 (2), HLA-DRB1 (2), C3 (2) 0.08108 0.37500 4.110e-7 2.589e-6 1 Auditory neuropathy Congenital ear anomaly 4 0 OTOF (1), AIFM1 (1), MYO7A (1), RAB33A (1) 0.06780 0.12903 4.071e-7 2.566e-6 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 2.566e-6 366 primary ciliary dyskinesia Teratozoospermia 3 3 DNAH10 (2), CFAP43 (2), DNAH1 (2) 0.08824 0.33333 4.011e-7 2.529e-6 11 Sezary syndrome Small cell carcinoma 3 0 TP53 (1), SMARCA4 (1), RB1 (1) 0.08824 0.33333 4.011e-7 2.529e-6 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 2.511e-6 41 Hyperuricemia Urolithiasis 6 1 VEGFA (1), WDR72 (1), GCKR (1), ABCG2 (5), BCAS1 (1), HCRTR2 (1) 0.04688 0.09375 3.964e-7 2.502e-6 180 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 2.468e-6 262 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 2.427e-6 Amnesia Pruritus 3 3 GRP (2), PDYN (2), TAC1 (2) 0.10345 0.23077 3.808e-7 2.406e-6 Anorexia Congestive ophthalmopathy 3 3 IL2 (2), TNF (2), IL1RN (2) 0.10345 0.23077 3.808e-7 2.406e-6 153 Anorexia Myopathic ophthalmopathy 3 3 IL2 (2), TNF (2), IL1RN (2) 0.10345 0.23077 3.808e-7 2.406e-6 153 Bruxism Cyclin-dependent kinase-like 5 deficiency 2 0 CDKL5 (1), MECP2 (1) 0.25000 0.66667 3.795e-7 2.400e-6 55 Bulbar palsy Cyclin-dependent kinase-like 5 deficiency 2 0 CACNA1A (1), MECP2 (1) 0.25000 0.66667 3.795e-7 2.400e-6 55 Cadasil Retinal vasculopathy with cerebral leukodystrophy 2 1 TREX1 (3), ATRIP (1) 0.25000 0.66667 3.795e-7 2.400e-6 159 Cadasil Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 2 NOTCH3 (7), HTRA1 (6) 0.25000 0.66667 3.795e-7 2.400e-6 Bouillaud’s disease Cervical intraepithelial neoplasia 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.25000 0.66667 3.795e-7 2.400e-6 1 Benign adult familial myoclonic epilepsy Benign myoclonic epilepsy 2 2 ADRA2B (2), SAMD12 (3) 0.25000 0.66667 3.795e-7 2.400e-6 284 Bouillaud’s disease Cryoglobulinemia 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.25000 0.66667 3.795e-7 2.400e-6 1 Cryoglobulinemia Skeletal system disease 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.25000 0.66667 3.795e-7 2.400e-6 1 Cryoglobulinemia Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.25000 0.66667 3.795e-7 2.400e-6 1 Bouillaud’s disease Cold paroxysmal hemoglobinuria 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.25000 0.66667 3.795e-7 2.400e-6 Congenital hyperinsulinism Dend syndrome 2 2 ABCC8 (3), KCNJ11 (5) 0.25000 0.66667 3.795e-7 2.400e-6 Congenital insensitivity to pain Episodic pain syndrome 2 2 SCN10A (5), SCN11A (4) 0.25000 0.66667 3.795e-7 2.400e-6 171 Bouillaud’s disease Diabetic nephropathy type 1 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.25000 0.66667 3.795e-7 2.400e-6 1 Bouillaud’s disease Hemoglobinuria paroxysmal 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.25000 0.66667 3.795e-7 2.400e-6 Hypocalcemia Hypocalciuric hypercalcemia 2 2 GNA11 (7), CASR (7) 0.25000 0.66667 3.795e-7 2.400e-6 Hypocalcemic vitamin d-dependent rickets Rickets 2 2 VDR (3), CYP27B1 (3) 0.25000 0.66667 3.795e-7 2.400e-6 342 Bouillaud’s disease Paroxysmal nocturnal hemoglobinuria 2 0 HLA-DQA1 (1), HLA-DQB1 (1) 0.25000 0.66667 3.795e-7 2.400e-6 Pelizaeus-merzbacher disease Spastic paraplegia, x-linked 2 1 PLP1 (8), RAB9B (1) 0.25000 0.66667 3.795e-7 2.400e-6 434 Polycythemia, primary familial and congenital Thrombocythemia 2 2 SH2B3 (4), JAK2 (5) 0.25000 0.66667 3.795e-7 2.400e-6 Polycythemia, primary familial and congenital Thrombocytosis 2 2 SH2B3 (2), JAK2 (3) 0.25000 0.66667 3.795e-7 2.400e-6 Familial polycythemia Thrombocythemia 2 2 SH2B3 (3), JAK2 (4) 0.25000 0.66667 3.795e-7 2.400e-6 Familial polycythemia Thrombocytosis 2 2 SH2B3 (3), JAK2 (4) 0.25000 0.66667 3.795e-7 2.400e-6 Head and neck cancer Tongue cancer 2 0 TERT (1), HLA-DQB1 (1) 0.18182 1.00000 3.796e-7 2.400e-6 1 Leiomyoma X-linked diffuse leiomyomatosis with alport syndrome 2 2 COL4A5 (2), COL4A6 (2) 0.18182 1.00000 3.796e-7 2.400e-6 91 Cataract-intellectual disability-hypogonadism syndrome Martsolf syndrome 2 2 RAB3GAP1 (5), RAB3GAP2 (7) 0.18182 1.00000 3.796e-7 2.400e-6 90 Tongue cancer Tongue neoplasms 2 0 TERT (1), HLA-DQB1 (1) 0.18182 1.00000 3.796e-7 2.400e-6 Congenital erythropoietic porphyria Porphyria 2 2 GATA1 (2), UROS (4) 0.18182 1.00000 3.796e-7 2.400e-6 132 Cutaneous porphyria Porphyria 2 2 GATA1 (2), UROS (6) 0.18182 1.00000 3.796e-7 2.400e-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 2.400e-6 176 Combined immunodeficiency with skin granulomas Omenn syndrome 2 2 RAG1 (5), RAG2 (5) 0.18182 1.00000 3.796e-7 2.400e-6 176 Hypoplastic anemia Spherocytosis 2 0 CAD (1), UMPS (1) 0.18182 1.00000 3.796e-7 2.400e-6 Annular epidermolytic ichthyosis Keratosis 2 2 KRT1 (4), KRT10 (4) 0.18182 1.00000 3.796e-7 2.400e-6 187 Epidermolytic ichthyosis Keratosis 2 2 KRT1 (4), KRT10 (5) 0.18182 1.00000 3.796e-7 2.400e-6 187 Congenital reticular ichthyosiform erythroderma Keratosis 2 2 KRT1 (4), KRT10 (5) 0.18182 1.00000 3.796e-7 2.400e-6 187 Epidermolytic hyperkeratosis Keratosis 2 2 KRT1 (4), KRT10 (5) 0.18182 1.00000 3.796e-7 2.400e-6 187 Endometrial hyperplasia Vulvar lichen sclerosus 2 2 TP53 (2), CDKN2A (2) 0.18182 1.00000 3.796e-7 2.400e-6 45 Brain edema Cholesterol embolism 2 2 PLAU (2), PLAT (2) 0.18182 1.00000 3.796e-7 2.400e-6 29 Brain edema Intracranial embolism and thrombosis 2 2 PLAU (2), PLAT (2) 0.18182 1.00000 3.796e-7 2.400e-6 29 Congenital hypoplastic anemia Spherocytosis 2 2 CAD (2), UMPS (2) 0.18182 1.00000 3.796e-7 2.400e-6 Cowchock syndrome Deafness, x-linked 2 1 AIFM1 (4), RAB33A (1) 0.18182 1.00000 3.796e-7 2.400e-6 Deafness, x-linked Senter syndrome 2 2 GJB6 (2), GJB2 (2) 0.18182 1.00000 3.796e-7 2.400e-6 68 Brain disease Tuberous sclerosis complex 3 3 IFNG (4), TSC2 (7), TSC1 (7) 0.06522 0.50000 3.753e-7 2.400e-6 Ciliopathy Congenital cystic kidney disease 3 3 TMEM231 (3), B9D1 (3), TXNDC15 (3) 0.04110 0.75000 3.746e-7 2.399e-6 8 Nonmedullary thyroid cancer Thyroid cancer 3 3 FOXE1 (4), HABP2 (3), MINPP1 (2) 0.07500 0.42857 3.742e-7 2.397e-6 Gastrointestinal stromal tumor Medulloblastoma 5 4 SMO (2), PTCH1 (1), PDGFRA (4), SUFU (5), PTCH2 (3) 0.05435 0.10638 3.671e-7 2.353e-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 2.226e-6 103 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 2.210e-6 Night blindness, congenital stationary Retinal degeneration 4 4 PDE6B (3), RHO (3), GNAT1 (4), RPGR (2) 0.06780 0.16000 3.442e-7 2.208e-6 Craniosynostosis Loeys-dietz syndrome 4 2 FBN1 (1), FBN2 (1), TGFBR1 (6), SMAD6 (4) 0.05556 0.25000 3.418e-7 2.193e-6 Kidney cancer Lipoma 4 0 TERT (1), EXO1 (1), STN1 (1), ACTRT3 (1) 0.04444 0.33333 3.406e-7 2.186e-6 Brain disease Cognition disorder 5 5 APP (2), CDK5R1 (2), SLC1A1 (2), TSC1 (2), OTC (2) 0.05435 0.11905 3.383e-7 2.172e-6 366 Hypotension Panic disorder 5 5 INS (2), CRH (2), MAOA (2), ADORA2A (2), ADRA2A (2) 0.05155 0.14706 3.382e-7 2.172e-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 2.171e-6 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 2.152e-6 Avascular necrosis of bone Hemophilia a 3 0 F2 (1), PLAT (1), TFPI (1) 0.10714 0.21429 3.327e-7 2.139e-6 Cartilage disease Lymphedema 3 1 GATA2 (3), HLA-DQA1 (1), HLA-DRB1 (1) 0.10714 0.21429 3.327e-7 2.139e-6 1 Chorioretinopathy with microcephaly Microcephaly 3 3 TUBGCP6 (6), PLK4 (6), TUBGCP4 (6) 0.02804 1.00000 3.171e-7 2.040e-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 2.031e-6 1 Hirschsprung disease Waardenburg-shah syndrome 3 3 EDNRB (6), EDN3 (6), SOX10 (3) 0.04348 0.75000 3.140e-7 2.021e-6 Familial temporal lobe epilepsy Temporal lobe epilepsy 3 3 CPA6 (5), RELN (4), GAL (4) 0.07895 0.42857 3.121e-7 2.009e-6 209 Ciliary dyskinesia, with or without situs inversus Situs inversus 3 0 DNAH5 (1), DNAH11 (1), DNAAF19 (1) 0.10345 0.27273 3.072e-7 1.978e-6 Deglutition disorder Visual disorder 3 3 TSEN2 (2), TSEN54 (2), TSEN34 (2) 0.10345 0.27273 3.072e-7 1.978e-6 Autoimmune lymphoproliferative disorder Splenomegaly 3 3 FAS (6), KRAS (2), NRAS (3) 0.10345 0.27273 3.072e-7 1.978e-6 17 Basal cell nevus syndrome Gorlin syndrome 2 2 PTCH1 (4), SUFU (4) 0.28571 0.50000 3.036e-7 1.958e-6 Bladder cancer Penile neoplasms 2 2 KRAS (2), HRAS (2) 0.28571 0.50000 3.036e-7 1.958e-6 17 Congenital pain insensitivity Paroxysmal extreme pain disorder 2 2 SCN11A (2), SCN9A (5) 0.28571 0.50000 3.036e-7 1.958e-6 171 Diabetes insipidus Neurogenic diabetes insipidus 2 2 AVP (3), AQP2 (5) 0.28571 0.50000 3.036e-7 1.958e-6 Diabetes insipidus Nephrogenic diabetes insipidus 2 2 AVP (4), AQP2 (2) 0.28571 0.50000 3.036e-7 1.958e-6 Dopa-responsive dystonia Dystonia, dopa-responsive, with or without hyperphenylalaninemia 2 2 GCH1 (4), SPR (6) 0.28571 0.50000 3.036e-7 1.958e-6 Very long chain acyl-coa dehydrogenase deficiency Yorifuji okuno syndrome 2 1 DLG4 (1), ACADVL (6) 0.28571 0.50000 3.036e-7 1.958e-6 106 Homocystinuria with megaloblastic anemia Neural tube defects, folate-sensitive 2 2 MTRR (4), MTR (2) 0.28571 0.50000 3.036e-7 1.958e-6 155 Autoimmune polyendocrine syndrome Esophageal achalasia 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.28571 0.50000 3.036e-7 1.958e-6 1 Esophageal achalasia Oropharyngeal neoplasms 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.28571 0.50000 3.036e-7 1.958e-6 1 Galactokinase deficiency Weber-cockayne syndrome 2 1 ITGB4 (1), GALK1 (3) 0.28571 0.50000 3.036e-7 1.958e-6 Paroxysmal dystonic choreoathetosis Paroxysmal nonkinesigenic dyskinesia 2 1 PRRT2 (3), KCNA1 (1) 0.28571 0.50000 3.036e-7 1.958e-6 85 Neurofibromatosis Neurofibromatosis-noonan syndrome 2 2 NF1 (7), SPRED1 (2) 0.28571 0.50000 3.036e-7 1.958e-6 71 Idiopathic infantile hypercalcemia Kidney and ureter calculus 2 2 SLC34A1 (6), CYP24A1 (5) 0.28571 0.50000 3.036e-7 1.958e-6 259 Intracellular cobalamin metabolism disorder methylmalonic aciduria and homocystinuria 2 2 ZNF143 (2), THAP11 (2) 0.20000 1.00000 3.037e-7 1.958e-6 198 Juvenile hyperuricemic nephropathy Tubulointerstitial kidney disease 2 2 REN (5), UMOD (4) 0.20000 1.00000 3.037e-7 1.958e-6 Large cell carcinoma Small cell carcinoma 2 0 CYP2A6 (1), PYCARD (1) 0.20000 1.00000 3.037e-7 1.958e-6 Glucocorticoid deficiency Primary adrenal insufficiency 2 0 CUX1 (1), MYL10 (1) 0.20000 1.00000 3.037e-7 1.958e-6 Transcobalamin deficiency Vitamin deficiency disorder 2 2 TCN2 (7), TCN1 (2) 0.20000 1.00000 3.037e-7 1.958e-6 100 Benign neonatal-infantile seizures Malignant migrating partial seizures of infancy 2 2 KCNQ2 (2), SCN2A (2) 0.20000 1.00000 3.037e-7 1.958e-6 Osteomyelitis Tongue cancer 2 2 TERT (2), HLA-DQB1 (2) 0.20000 1.00000 3.037e-7 1.958e-6 1 Arterial occlusive disease Cholesterol embolism 2 2 PLAU (2), PLAT (2) 0.20000 1.00000 3.037e-7 1.958e-6 29 Arterial occlusive disease Intracranial embolism and thrombosis 2 2 PLAU (2), PLAT (2) 0.20000 1.00000 3.037e-7 1.958e-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 1.958e-6 97 Benign neonatal-infantile seizures Epilepsy of infancy with migrating focal seizures 2 2 KCNQ2 (3), SCN2A (3) 0.20000 1.00000 3.037e-7 1.958e-6 Benign recurrent intrahepatic cholestasis Intrahepatic cholestasis 2 2 ATP8B1 (3), ABCB11 (4) 0.20000 1.00000 3.037e-7 1.958e-6 135 Aniridia Congenital aniridia 2 2 WT1 (4), PAX6 (4) 0.20000 1.00000 3.037e-7 1.958e-6 Aniridia Axenfeld anomaly 2 2 FOXC1 (2), PITX2 (2) 0.20000 1.00000 3.037e-7 1.958e-6 82 Congenital arteriovenous malformation Venous malformation 2 1 TEK (3), PIK3CA (1) 0.20000 1.00000 3.037e-7 1.958e-6 Curry-hall syndrome Ellis-van creveld syndrome 2 2 EVC (7), EVC2 (7) 0.20000 1.00000 3.037e-7 1.958e-6 233 Cardiofacial dysplasia Ellis-van creveld syndrome 2 2 PRKACB (5), PRKACA (5) 0.20000 1.00000 3.037e-7 1.958e-6 Iron deficiency anemia Iron metabolism disorder 3 2 HFE (1), TMPRSS6 (3), TFRC (2) 0.10000 0.30000 3.018e-7 1.958e-6 Polyarticular juvenile idiopathic arthritis Scleroderma 4 4 IL2 (2), HLA-DQB1 (2), STAT4 (4), CD247 (3) 0.07018 0.14286 3.037e-7 1.958e-6 Aneurysm Peripheral vascular disease 4 1 CELSR2 (1), DAB2IP (2), LPA (1), PSRC1 (1) 0.07018 0.14815 2.963e-7 1.929e-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 1.925e-6 Congenital structural myopathy Nemaline myopathy 3 2 ANKRD1 (1), NEB (7), TPM3 (4) 0.10714 0.25000 2.932e-7 1.910e-6 Azoospermia Pemphigus vulgaris 3 0 HLA-DQA1 (1), HLA-DRA (1), HLA-DRB1 (1) 0.08108 0.42857 2.838e-7 1.850e-6 Liver failure Proteinuria 5 5 VEGFA (2), FAS (2), POMC (2), ALB (2), IL1RN (2) 0.05556 0.11905 2.791e-7 1.820e-6 Cowden disease Meningioma 3 3 PTEN (6), AKT1 (7), PIK3CA (7) 0.09677 0.33333 2.778e-7 1.812e-6 Blood coagulation disorder Disseminated intravascular coagulation 3 3 F2 (3), SERPINC1 (2), PROC (3) 0.09677 0.33333 2.778e-7 1.812e-6 36 Brain neoplasms Diabetes microvascular complications 3 3 VEGFA (2), PON1 (2), SOD2 (3) 0.07143 0.50000 2.759e-7 1.801e-6 Aortic arch syndrome Dermatitis 3 3 HLA-DRB1 (2), HLA-B (2), HLA-A (2) 0.07143 0.50000 2.759e-7 1.801e-6 Hereditary spastic paraplegia Spastic paraplegia, x-linked 3 1 SPAST (1), PLP1 (3), RAB9B (1) 0.02941 1.00000 2.739e-7 1.789e-6 Granulomatosis with polyangiitis Systemic scleroderma 3 3 HLA-DPB1 (3), FCGR3B (2), HLA-DPA1 (3) 0.11111 0.21429 2.705e-7 1.767e-6 inherited retinal dystrophy Oguchi disease 3 3 PDE6B (2), GNAT1 (2), SLC24A1 (2) 0.11111 0.21429 2.705e-7 1.767e-6 160 Anophthalmia Coloboma 3 2 ELP4 (1), PAX6 (4), RAX (3) 0.11111 0.21429 2.705e-7 1.767e-6 Beta thalassemia Iron deficiency anemia 3 1 HFE (1), TNF (1), TFRC (2) 0.10345 0.30000 2.607e-7 1.705e-6 Beta thalassemia Spherocytosis 3 3 CAD (2), UMPS (2), DHODH (2) 0.10345 0.30000 2.607e-7 1.705e-6 Rhabdomyosarcoma Wilms tumor 4 2 ARID1A (1), IGF2 (3), BCOR (1), DICER1 (3) 0.07143 0.14815 2.607e-7 1.705e-6 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 1.683e-6 1 Auditory neuropathy Pendred syndrome 3 0 OTOF (1), DIAPH1 (1), MYO7A (1) 0.08333 0.42857 2.572e-7 1.683e-6 157 Autoinflammatory syndrome Cold autoinflammatory syndrome 3 3 NLRP3 (5), NLRP12 (4), NLRC4 (3) 0.07317 0.50000 2.542e-7 1.665e-6 Bone osteosarcoma Li-fraumeni syndrome 2 2 CHEK2 (5), TP53 (7) 0.28571 0.66667 2.530e-7 1.658e-6 Carnevale syndrome Oculopalatosekeletal syndrome 2 2 COLEC11 (2), MASP1 (2) 0.28571 0.66667 2.530e-7 1.658e-6 292 3mc syndrome Oculopalatosekeletal syndrome 2 2 COLEC11 (3), MASP1 (4) 0.28571 0.66667 2.530e-7 1.658e-6 292 Cyanosis Hemoglobin f disease 2 2 HBB (2), HBG2 (4) 0.28571 0.66667 2.530e-7 1.658e-6 18 Caudal regression syndrome Neural tube defects, susceptibility to 2 2 FUZ (4), VANGL1 (4) 0.28571 0.66667 2.530e-7 1.658e-6 109 Chilblain lupus erythematosus Retinal vasculopathy with cerebral leukodystrophy 2 1 TREX1 (5), ATRIP (1) 0.28571 0.66667 2.530e-7 1.658e-6 159 Long qt syndrome, digenic Torsades de pointes 2 2 KCNH2 (2), SCN5A (2) 0.28571 0.66667 2.530e-7 1.658e-6 Malpuech facial clefting syndrome Oculopalatosekeletal syndrome 2 1 COLEC11 (1), MASP1 (2) 0.28571 0.66667 2.530e-7 1.658e-6 292 Paroxysmal familial ventricular fibrillation Right ventricular cardiomyopathy 2 0 DSP (1), LMNA (1) 0.28571 0.66667 2.530e-7 1.658e-6 Episodic kinesigenic dyskinesia Paroxysmal dyskinesia 2 2 PRRT2 (6), KCNA1 (2) 0.28571 0.66667 2.530e-7 1.658e-6 85 Estrogen resistance Male breast carcinoma 2 2 ESR1 (6), CCDC170 (2) 0.28571 0.66667 2.530e-7 1.658e-6 38 familial sleep-related hypermotor epilepsy Frontal lobe epilepsy 2 2 CHRNB2 (3), CHRNA4 (3) 0.28571 0.66667 2.530e-7 1.658e-6 423 Anhedonia Hyperkinesia 4 4 DISC1 (2), DRD2 (2), SLC6A3 (2), CRHR1 (2) 0.07143 0.15385 2.528e-7 1.658e-6 Congenital nonspherocytic hemolytic anemia Contact dermatitis 4 4 GSS (3), GCLC (3), GSR (3), G6PD (6) 0.04762 0.33333 2.495e-7 1.641e-6 Congenital impairment of spermatozoa motility primary ciliary dyskinesia 3 3 SPEF2 (2), CFAP43 (2), DNAH1 (2) 0.10000 0.33333 2.431e-7 1.600e-6 11 Exudative vitreoretinopathy Polycystic liver disease 3 3 CTNNB1 (4), LRP6 (2), LRP5 (7) 0.10000 0.33333 2.431e-7 1.600e-6 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 1.573e-6 Arthritis Pemphigus 3 2 HLA-DQA1 (2), HLA-DQB1 (2), CD40 (1) 0.09375 0.37500 2.380e-7 1.568e-6 1 Arteriovenous malformations Capillary malformation-arteriovenous malformation 2 2 KRAS (2), RASA1 (6) 0.22222 1.00000 2.362e-7 1.556e-6 65 Auricle malformation Ovarian agenesis 2 0 DIPK1A (1), RPL5 (1) 0.22222 1.00000 2.362e-7 1.556e-6 240 Auricle malformation Erythroid hypoplasia 2 0 DIPK1A (1), RPL5 (1) 0.22222 1.00000 2.362e-7 1.556e-6 240 Benign hypercalcemia Calcium metabolism disorders 2 1 AP2S1 (2), CASR (1) 0.22222 1.00000 2.362e-7 1.556e-6 Calcium metabolism disorders Craniometadiaphyseal dysplasia 2 0 ANKH (1), OTULIN (1) 0.22222 1.00000 2.362e-7 1.556e-6 208 Capillary malformation-arteriovenous malformation Port-wine stain 2 2 GNAQ (3), RASA1 (6) 0.22222 1.00000 2.362e-7 1.556e-6 65 Combined saposin deficiency Metachromatic leukodystrophy 2 1 PSAP (5), CDH23 (1) 0.22222 1.00000 2.362e-7 1.556e-6 114 Complement pathway abnormality Periodontal ehlers-danlos syndrome 2 2 C1S (2), C1R (2) 0.22222 1.00000 2.362e-7 1.556e-6 Congenital malformation syndromes predominantly involving limbs Rubinstein-taybi syndrome 2 0 DLX5 (1), SMOC1 (1) 0.22222 1.00000 2.362e-7 1.556e-6 195 Cavernous malformations of cns Congenital cerebral aneurysm 2 0 PDCD10 (1), CCM2 (1) 0.22222 1.00000 2.362e-7 1.556e-6 249 Cavernous malformations of cns Congenital malformation of cerebral vessels 2 0 PDCD10 (1), CCM2 (1) 0.22222 1.00000 2.362e-7 1.556e-6 249 Visual impairment Visual system disorder 2 0 EFEMP1 (1), PNPT1 (1) 0.22222 1.00000 2.362e-7 1.556e-6 152 Retinopathy background Vitreoretinal degeneration 2 0 ABCA4 (1), LRP5 (1) 0.22222 1.00000 2.362e-7 1.556e-6 150 Hereditary chronic pancreatitis Tropical calcific pancreatitis 2 2 CTRC (2), SPINK1 (5) 0.22222 1.00000 2.362e-7 1.556e-6 210 Hoyeraal hreidarsson syndrome X-linked dyskeratosis congenita 2 2 RTEL1 (2), DKC1 (4) 0.22222 1.00000 2.362e-7 1.556e-6 Bowen’s disease Huntington disease 3 3 NRF1 (2), TFAM (2), PPARGC1A (2) 0.04762 0.75000 2.360e-7 1.556e-6 Hypoalphalipoproteinemia Lipoprotein lipase deficiency 3 3 APOB (4), DOCK7 (2), PCSK9 (2) 0.08571 0.42857 2.324e-7 1.539e-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 1.537e-6 Hirschsprung disease Waardenburg syndrome 4 3 EDNRB (7), EDN3 (8), POLR2F (1), SOX10 (8) 0.05195 0.30769 2.273e-7 1.506e-6 Aortic stenosis Coronary syndrome 3 0 LPL (1), CELSR2 (1), LPA (1) 0.04839 0.75000 2.244e-7 1.487e-6 Berylliosis Oral submucous fibrosis 3 3 TNF (2), IL6 (2), TGFB1 (2) 0.10714 0.30000 2.236e-7 1.482e-6 Oral submucous fibrosis Pleural diseases 3 3 IL6 (2), TGFB1 (2), IFNG (2) 0.10714 0.30000 2.236e-7 1.482e-6 Esotropia Oral submucous fibrosis 3 2 TNF (2), PTGS2 (2), CXCL8 (1) 0.10714 0.30000 2.236e-7 1.482e-6 43 Dermatitis Sinusitis 4 3 HLA-DQA1 (3), HLA-DRB1 (1), HLA-B (3), IL13 (2) 0.07018 0.18182 2.234e-7 1.482e-6 Congenital fiber type disproportion myopathy Nemaline myopathy 3 3 ACTA1 (4), TPM2 (5), TPM3 (5) 0.11111 0.27273 2.200e-7 1.461e-6 Epidermodysplasia verruciformis Immunodeficiency 4 4 RHOH (5), CORO1A (3), MST1 (2), IL7 (3) 0.02797 0.57143 2.180e-7 1.447e-6 Angle closure glaucoma Avascular necrosis of bone 3 0 CAT (1), NOS3 (1), GSTM1 (1) 0.11538 0.21429 2.165e-7 1.438e-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 1.438e-6 23 Autism, x-linked X-linked complex neurodevelopmental disorder 3 3 NLGN4X (6), PTCHD1 (3), NLGN3 (4) 0.07692 0.50000 2.142e-7 1.424e-6 Carpal tunnel syndrome Osteochondrodysplasias 5 5 COL11A1 (3), COL11A2 (2), COMP (3), ADAMTSL2 (3), COL10A1 (2) 0.05435 0.15152 2.119e-7 1.409e-6 44 Cerebral arteriovenous malformations Congenital arteriovenous malformation 3 0 CACNA1H (1), GLI2 (1), ADGRV1 (1) 0.10345 0.33333 2.115e-7 1.406e-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 1.406e-6 50 Cyclocephaly Holoprosencephaly 3 3 FGF8 (3), GAS1 (5), ZIC2 (6) 0.08824 0.42857 2.092e-7 1.392e-6 Potassium deficiency Ventricular dysfunction 4 4 INS (2), AGT (2), NPPB (2), ADRB2 (2) 0.06557 0.22222 2.068e-7 1.377e-6 Congenital cystic kidney disease Joubert syndrome 3 2 TMEM231 (5), KIF14 (1), B9D1 (5) 0.05000 0.75000 2.023e-7 1.348e-6 8 Generalized epilepsy with febrile seizures plus Lennox-gastaut syndrome 3 3 GABRG2 (3), SCN1A (8), SCN2A (2) 0.11538 0.25000 2.014e-7 1.341e-6 228 Pancreatic ductal carcinoma Urethral obstruction 4 0 RELA (1), HEY1 (1), HEY2 (1), HES1 (1) 0.07407 0.15385 1.948e-7 1.298e-6 80 Genetic predisposition to disease Substance-induced psychosis 4 0 ACE (1), ESR1 (1), ADORA2A (1), SLC6A3 (1) 0.06452 0.23529 1.920e-7 1.280e-6 Diffuse large b-cell lymphoma Waldenstrom macroglobulinemia 3 1 EXOC2 (1), IRF4 (1), MYD88 (2) 0.05085 0.75000 1.919e-7 1.279e-6 1 Intervertebral disc disease Marshall syndrome 3 3 COL11A1 (6), COL9A2 (2), COL9A3 (3) 0.11111 0.30000 1.901e-7 1.268e-6 Marfan syndrome Mitral valve prolapse 5 4 FBN1 (7), LTBP3 (2), COL5A1 (2), FLNA (1), LTBP2 (2) 0.05814 0.11628 1.879e-7 1.253e-6 50 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 1.246e-6 129 Familial adult myoclonic epilepsy Myoclonic epilepsy 3 3 RAPGEF2 (5), TNRC6A (5), SAMD12 (5) 0.10000 0.37500 1.854e-7 1.238e-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 1.238e-6 Dravet syndrome Myoclonic epilepsy 3 3 GABRA1 (2), SCN1A (6), STXBP1 (3) 0.10000 0.37500 1.854e-7 1.238e-6 Adult myoclonic epilepsy Myoclonic epilepsy 3 3 RAPGEF2 (3), TNRC6A (3), SAMD12 (3) 0.10000 0.37500 1.854e-7 1.238e-6 284 Developmental delay Postaxial polydactyly 4 0 ND2 (1), COX3 (1), ND5 (1), ND4 (1) 0.07143 0.19048 1.831e-7 1.224e-6 26 Chloracne Methemoglobinemia 3 3 HBA1 (5), HBA2 (3), HBB (4) 0.08108 0.50000 1.786e-7 1.194e-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 1.194e-6 Iron overload Vitreoretinochoroidopathy 2 2 BEST1 (5), FTH1 (2) 0.25000 1.00000 1.772e-7 1.185e-6 Klippel-trenaunay syndrome Port-wine stain 2 2 GNAQ (2), RASA1 (2) 0.25000 1.00000 1.772e-7 1.185e-6 65 Capillary-lymphatic-venous malformation Klippel-trenaunay syndrome 2 2 PIK3CA (2), AGGF1 (2) 0.25000 1.00000 1.772e-7 1.185e-6 Pancreatic trypsinogen deficiency Vitamin d dependent rickets 2 0 PRSS1 (1), TRB (1) 0.25000 1.00000 1.772e-7 1.185e-6 342 Focal cortical dysplasia Polycystic kidney disease with tuberous sclerosis 2 2 PKD1 (2), TSC2 (4) 0.25000 1.00000 1.772e-7 1.185e-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 1.185e-6 48 Hallermanns syndrome Hallervorden spatz syndrome 2 2 GJA1 (2), CHD6 (2) 0.25000 1.00000 1.772e-7 1.185e-6 107 Hyper-igm immunodeficiency syndrome Hyper-immunoglobulin syndrome 2 2 AICDA (6), CD40 (6) 0.25000 1.00000 1.772e-7 1.185e-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 1.185e-6 12 Autoinflammatory disease, systemic, x-linked Hyper-igm immunodeficiency syndrome 2 1 G6PD (1), IKBKG (3) 0.25000 1.00000 1.772e-7 1.185e-6 12 Bloch sulzberger syndrome Hyper-igm immunodeficiency syndrome 2 0 G6PD (1), IKBKG (1) 0.25000 1.00000 1.772e-7 1.185e-6 12 Benign hereditary chorea Choreatic disease 2 2 ADCY5 (3), NKX2-1 (3) 0.25000 1.00000 1.772e-7 1.185e-6 Congenital exomphalos Congenital omphalocele 2 0 CHRNA7 (1), PCSK5 (1) 0.25000 1.00000 1.772e-7 1.185e-6 109 Congenital malformation syndromes predominantly involving limbs Klippel-trenaunay syndrome 2 0 DLX5 (1), SMOC1 (1) 0.25000 1.00000 1.772e-7 1.185e-6 Astigmatism Dyschromatopsia 2 0 PHF3 (1), EYS (1) 0.25000 1.00000 1.772e-7 1.185e-6 Benign epithelial tumor of salivary glands Russell-silver syndrome 2 2 HMGA2 (2), PLAG1 (2) 0.25000 1.00000 1.772e-7 1.185e-6 Emery-dreifuss muscular dystrophy X-linked emery-dreifuss muscular dystrophy 2 2 FHL1 (4), EMD (5) 0.25000 1.00000 1.772e-7 1.185e-6 Blue rubber bleb nevus syndrome Congenital venous anomaly 2 1 GLMN (1), TEK (2) 0.25000 1.00000 1.772e-7 1.185e-6 257 Branchiooculofacial syndrome Branchiootorenal syndrome 2 2 TFAP2A (5), EYA1 (5) 0.25000 1.00000 1.772e-7 1.185e-6 134 Branchiootic syndrome Branchiootorenal syndrome 2 2 EYA1 (6), SIX1 (8) 0.25000 1.00000 1.772e-7 1.185e-6 134 Branchiootorenal syndrome Otofaciocervical syndrome 2 2 EYA1 (6), PAX1 (7) 0.25000 1.00000 1.772e-7 1.185e-6 134 Candle syndrome Proteasome associated autoinflammatory syndrome 2 2 PSMB8 (6), PSMB4 (4) 0.25000 1.00000 1.772e-7 1.185e-6 Cataract-intellectual disability-hypogonadism syndrome Cryptophthalmos syndrome 2 2 RAB3GAP1 (3), RAB3GAP2 (3) 0.25000 1.00000 1.772e-7 1.185e-6 90 Cataract-intellectual disability-hypogonadism syndrome Cyclocephaly 2 2 RAB3GAP1 (3), RAB3GAP2 (3) 0.25000 1.00000 1.772e-7 1.185e-6 90 17 alpha-hydroxyprogesterone aldolase deficiency 46,xy disorder of sex developmen 2 2 AKR1C2 (2), AKR1C4 (2) 0.25000 1.00000 1.772e-7 1.185e-6 363 Acral peeling skin syndrome Peeling skin syndrome 2 2 CSTA (4), TGM5 (4) 0.25000 1.00000 1.772e-7 1.185e-6 Acromesomelic dysplasia Congenital scoliosis 2 1 FBN1 (2), LTBP3 (1) 0.25000 1.00000 1.772e-7 1.185e-6 28 Apoceruloplasmin deficiency Iron overload 2 2 CP (2), SLC40A1 (2) 0.25000 1.00000 1.772e-7 1.185e-6 188 Apolipoprotein a-i deficiency Hypoalphalipoproteinemia 2 2 APOA1 (5), ABCA1 (7) 0.25000 1.00000 1.772e-7 1.185e-6 293 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 1.183e-6 Oculocutaneous albinism Sebaceous gland disease 3 3 TYR (6), MC1R (5), SLC45A2 (6) 0.12000 0.23077 1.702e-7 1.150e-6 Avascular necrosis of bone Raynaud disease 3 3 NOS3 (2), GSTT1 (2), GSTM1 (2) 0.12000 0.23077 1.702e-7 1.150e-6 23 Osteonecrosis of medial femoral condyle Raynaud disease 3 3 NOS3 (2), GSTT1 (2), GSTM1 (2) 0.12000 0.23077 1.702e-7 1.150e-6 23 Avascular necrosis of bone Senile cataract 3 0 CAT (1), GSTT1 (1), GSTM1 (1) 0.12000 0.23077 1.702e-7 1.150e-6 23 Osteonecrosis of medial femoral condyle Senile cataract 3 0 CAT (1), GSTT1 (1), GSTM1 (1) 0.12000 0.23077 1.702e-7 1.150e-6 23 Granulomatosis with polyangiitis Myopathic ophthalmopathy 3 2 IL10 (1), CTLA4 (2), PTPN22 (2) 0.12000 0.23077 1.702e-7 1.150e-6 153 Congestive ophthalmopathy Granulomatosis with polyangiitis 3 2 IL10 (1), CTLA4 (2), PTPN22 (2) 0.12000 0.23077 1.702e-7 1.150e-6 153 Carotid artery stenosis Coronary restenosis 3 3 MMP3 (2), SPP1 (2), MTHFR (2) 0.12000 0.23077 1.702e-7 1.150e-6 60 Cortical development malformation Hemimegalencephaly 3 3 AKT3 (3), PIK3CA (3), MTOR (3) 0.09375 0.42857 1.675e-7 1.135e-6 Congenital stationary night blindness inherited retinal dystrophy 3 3 PDE6B (4), GNAT1 (4), SLC24A1 (4) 0.12000 0.25000 1.637e-7 1.109e-6 160 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 1.093e-6 Giant cell arteritis Pleural diseases 3 3 IL4 (2), IFNG (2), CCL2 (2) 0.11538 0.30000 1.601e-7 1.086e-6 Endometrial hyperplasia Hemangiosarcoma 3 3 TP53 (2), CTNNB1 (2), KRAS (2) 0.11538 0.30000 1.601e-7 1.086e-6 Diabetic nephropathy type 2 Hypertensive heart disease 3 0 TCF7L2 (1), FTO (1), PDILT (1) 0.11538 0.30000 1.601e-7 1.086e-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 1.086e-6 Dentinogenesis imperfecta Osteoporosis-pseudoglioma syndrome 4 4 AMBN (2), COL1A1 (2), COL1A2 (2), DSPP (8) 0.06452 0.25000 1.601e-7 1.086e-6 Developmental regression Nystagmus 4 0 NMNAT1 (1), GALC (1), GNB1 (1), SGSH (1) 0.06897 0.22222 1.568e-7 1.065e-6 Diabetic polyneuropathy Hypertensive nephropathy 3 0 NYAP2 (1), TCF7L2 (1), FTO (1) 0.11111 0.33333 1.566e-7 1.064e-6 Polynesian bronchiectasis Situs inversus 3 0 DNAH5 (1), DNAH11 (1), DNAAF19 (1) 0.11111 0.33333 1.566e-7 1.064e-6 Intrahepatic cholestasis Intrahepatic cholestasis of pregnancy 3 3 ATP8B1 (3), ABCB11 (3), ABCB4 (4) 0.11111 0.33333 1.566e-7 1.064e-6 135 Penile neoplasms Schimmelpenning-feuerstein-mims syndrome 2 2 KRAS (2), HRAS (2) 0.33333 0.66667 1.518e-7 1.033e-6 17 Malnutrition Neural tube defects, folate-sensitive 2 2 MTHFR (3), MTR (3) 0.33333 0.66667 1.518e-7 1.033e-6 155 mismatch repair cancer syndrome 1 Turcot syndrome 2 2 PMS2 (2), MLH1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 39 Muir-torre syndrome Turcot syndrome 2 2 PMS2 (2), MLH1 (4) 0.33333 0.66667 1.518e-7 1.033e-6 39 Autoimmune polyendocrine syndrome Wheat allergic reaction 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 1 Oropharyngeal neoplasms Wheat allergic reaction 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 1 Episodic kinesigenic dyskinesia Paroxysmal dystonic choreoathetosis 2 2 PRRT2 (5), KCNA1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 85 Episodic kinesigenic dyskinesia Paroxysmal nonkinesigenic dyskinesia 2 2 PRRT2 (6), KCNA1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 85 Episodic pain syndrome Paroxysmal extreme pain disorder 2 2 SCN10A (5), SCN11A (4) 0.33333 0.66667 1.518e-7 1.033e-6 171 Bouillaud’s disease Esophageal achalasia 2 2 HLA-DQA1 (2), HLA-DQB1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 1 Oropharyngeal neoplasms Skeletal system disease 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 1 Developmental venous anomaly Parkes weber syndrome 2 1 RASA1 (4), CCNH (1) 0.33333 0.66667 1.518e-7 1.033e-6 Doyne honeycomb retinal dystrophy Thrombotic microangiopathy 2 1 CFI (1), CFH (2) 0.33333 0.66667 1.518e-7 1.033e-6 32 Acrofacial dysostosis Weyers acrofacial dysostosis 2 2 EVC (3), EVC2 (5) 0.33333 0.66667 1.518e-7 1.033e-6 233 Acute disseminated encephalomyelitis Autoimmune polyendocrine syndrome 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.33333 0.66667 1.518e-7 1.033e-6 1 Acute disseminated encephalomyelitis Oropharyngeal neoplasms 2 2 HLA-DRB1 (2), HLA-DQB1 (2) 0.33333 0.66667 1.518e-7 1.033e-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 1.033e-6 418 Bladder cancer Seminoma 2 2 FGFR3 (2), HRAS (2) 0.33333 0.66667 1.518e-7 1.033e-6 17 Bladder cancer Schimmelpenning-feuerstein-mims syndrome 2 0 KRAS (1), HRAS (1) 0.33333 0.66667 1.518e-7 1.033e-6 17 Budd-chiari syndrome Hepatic vein thrombosis 2 2 JAK2 (4), F5 (4) 0.33333 0.66667 1.518e-7 1.033e-6 84 Carnevale syndrome Craniofacial ulnar renal syndrome 2 2 COLEC11 (2), MASP1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 292 Atypical hemolytic uremic syndrome Doyne honeycomb retinal dystrophy 2 2 CFI (2), CFH (3) 0.33333 0.66667 1.518e-7 1.033e-6 32 Autoimmune polyendocrine syndrome Skeletal system disease 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.33333 0.66667 1.518e-7 1.033e-6 1 autosomal recessive polycystic kidney disease Caroli disease 2 2 PKD1 (3), PKHD1 (4) 0.33333 0.66667 1.518e-7 1.033e-6 74 Autoimmune polyendocrine syndrome Benign mucous membrane pemphigoid 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.33333 0.66667 1.518e-7 1.033e-6 1 Benign mucous membrane pemphigoid Oropharyngeal neoplasms 2 2 HLA-DRB1 (2), HLA-DQB1 (2) 0.33333 0.66667 1.518e-7 1.033e-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 1.033e-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 1.033e-6 1 Congenital pain insensitivity Erythromelalgia 2 2 SCN11A (2), SCN9A (5) 0.33333 0.66667 1.518e-7 1.033e-6 171 Cystinuria Hypotonia-cystinuria syndrome 2 2 PREPL (2), SLC3A1 (7) 0.33333 0.66667 1.518e-7 1.033e-6 Arthrogryposis Distal arthrogryposis 3 3 ECEL1 (5), MYH3 (5), TPM2 (5) 0.12000 0.27273 1.511e-7 1.033e-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 1.033e-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 1.033e-6 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 1.029e-6 Arima syndrome Cystic kidney disease 3 0 CC2D2A (1), CEP290 (1), TMEM216 (1) 0.09677 0.42857 1.489e-7 1.024e-6 8 Asbestosis Bronchopulmonary dysplasia 4 3 GSTT1 (2), IL1B (2), TNF (2), GSTM1 (1) 0.06780 0.23529 1.473e-7 1.013e-6 Henoch schoenlein purpura Proteinuria 4 4 AGT (2), HLA-DQA1 (3), HLA-DRB1 (2), IL1RN (2) 0.07018 0.22222 1.423e-7 9.791e-7 Double outlet right ventricle Heterotaxy syndrome 3 2 CFC1 (5), CERS1 (1), GDF1 (2) 0.10714 0.37500 1.411e-7 9.712e-7 Generalized epilepsy Lennox-gastaut syndrome 4 3 CACNA1A (2), CUX2 (3), SCN1A (4), POLG (1) 0.05405 0.33333 1.395e-7 9.608e-7 Autoimmune polyendocrine syndrome Narcolepsy 3 3 HLA-DQA1 (2), HLA-DRB1 (4), HLA-DQB1 (4) 0.05660 0.75000 1.366e-7 9.409e-7 1 Cataplexy and narcolepsy Narcolepsy 3 3 P2RY11 (3), PPAN (2), PPAN-P2RY11 (2) 0.05660 0.75000 1.366e-7 9.409e-7 1 Optic neuritis Senile cataract 3 0 CAT (1), GSTT1 (1), GSTM1 (1) 0.12500 0.23077 1.338e-7 9.222e-7 Eye neoplasms Sebaceous gland disease 3 0 HERC2 (1), IRF4 (1), TYR (1) 0.12500 0.25000 1.310e-7 9.032e-7 Osteonecrosis of medial femoral condyle Thromboembolism 3 3 F2 (2), PLAT (2), F5 (2) 0.12500 0.25000 1.310e-7 9.032e-7 Avascular necrosis of bone Thromboembolism 3 3 F2 (2), PLAT (2), F5 (2) 0.12500 0.25000 1.310e-7 9.032e-7 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 8.865e-7 44 Blepharocheilodontic syndrome Cleft lip with or without cleft palate 2 2 CTNND1 (7), CDH1 (5) 0.28571 1.00000 1.265e-7 8.736e-7 165 Carotid artery thrombosis Glanzmann thrombasthenia 2 2 ITGB3 (8), ITGA2B (8) 0.28571 1.00000 1.265e-7 8.736e-7 67 Carotid artery thrombosis platelet-type bleeding disorder 16 2 2 ITGB3 (3), ITGA2B (3) 0.28571 1.00000 1.265e-7 8.736e-7 67 Axenfeld anomaly Axenfeld-rieger syndrome 2 2 FOXC1 (6), PITX2 (6) 0.28571 1.00000 1.265e-7 8.736e-7 82 Axenfeld-rieger syndrome Iridogoniodysgenesis 2 2 FOXC1 (6), PITX2 (6) 0.28571 1.00000 1.265e-7 8.736e-7 82 Benign infantile epilepsy Benign neonatal-infantile seizures 2 2 KCNQ2 (3), SCN2A (2) 0.28571 1.00000 1.265e-7 8.736e-7 213 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 8.736e-7 260 Cerebellar ataxia, mental retardation, and dysequilibrium Dysequilibrium syndrome 2 2 WDR81 (3), CA8 (3) 0.28571 1.00000 1.265e-7 8.736e-7 260 Cerebral cavernous malformation Congenital cerebral aneurysm 2 2 PDCD10 (7), CCM2 (7) 0.28571 1.00000 1.265e-7 8.736e-7 249 Cerebral cavernous malformation Congenital malformation of cerebral vessels 2 2 PDCD10 (7), CCM2 (7) 0.28571 1.00000 1.265e-7 8.736e-7 249 Cerebrooculofacioskeletal syndrome De sanctis-cacchione syndrome 2 1 ERCC6 (5), PGBD3 (1) 0.28571 1.00000 1.265e-7 8.736e-7 352 Cockayne syndrome De sanctis-cacchione syndrome 2 1 ERCC6 (7), PGBD3 (1) 0.28571 1.00000 1.265e-7 8.736e-7 352 Congenital amegakaryocytic thrombocytopenia Thrombocytosis 2 2 MPL (6), THPO (7) 0.28571 1.00000 1.265e-7 8.736e-7 98 Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 2 MPL (7), THPO (6) 0.28571 1.00000 1.265e-7 8.736e-7 98 Amegakaryocytic thrombocytopenia Thrombocytosis 2 2 MPL (5), THPO (6) 0.28571 1.00000 1.265e-7 8.736e-7 98 Amegakaryocytic thrombocytopenia Thrombocythemia 2 2 MPL (5), THPO (4) 0.28571 1.00000 1.265e-7 8.736e-7 98 Aortic arch syndrome Thromboangiitis obliterans 2 0 HLA-DRB1 (1), HLA-A (1) 0.28571 1.00000 1.265e-7 8.736e-7 Polycystic kidney disease with tuberous sclerosis Tuberous sclerosis complex 2 2 PKD1 (2), TSC2 (7) 0.28571 1.00000 1.265e-7 8.736e-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 8.736e-7 48 Methemoglobinemia methemoglobinemia, alpha type 2 2 HBA1 (5), HBA2 (2) 0.28571 1.00000 1.265e-7 8.736e-7 24 erythrocytosis, familial, 7 Methemoglobinemia 2 2 HBA1 (5), HBA2 (2) 0.28571 1.00000 1.265e-7 8.736e-7 24 Eosinophilic leukemia Hypereosinophilic syndrome 2 2 PDGFRA (5), FIP1L1 (3) 0.28571 1.00000 1.265e-7 8.736e-7 139 Eyelid disease Visual system disorder 2 0 EFEMP1 (1), PNPT1 (1) 0.28571 1.00000 1.265e-7 8.736e-7 152 Turnpenny-fry syndrome Wolfram syndrome 2 1 PCGF2 (5), CISD3 (1) 0.28571 1.00000 1.265e-7 8.736e-7 Hydatidiform mole Partial hydatidiform mole 2 2 NLRP7 (6), KHDC3L (6) 0.28571 1.00000 1.265e-7 8.736e-7 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 8.716e-7 73 Amenorrhea Congenital adrenal hyperplasia 3 3 CYP17A1 (3), CYP19A1 (2), POR (5) 0.12500 0.27273 1.228e-7 8.553e-7 193 Graft-versus-host disease Mucositis 3 3 IL10 (3), MTHFR (2), IL1RN (2) 0.11111 0.37500 1.219e-7 8.491e-7 Gastrointestinal neoplasms Medulloblastoma 3 0 APC (1), ERBB2 (1), HIC1 (1) 0.05882 0.75000 1.209e-7 8.422e-7 37 Gorlin syndrome Medulloblastoma 3 3 PTCH1 (3), SUFU (5), PTCH2 (4) 0.05882 0.75000 1.209e-7 8.422e-7 Gross motor development delay Neuromuscular disease 4 0 SCN4A (1), RYR1 (1), MYH7 (1), TTN (1) 0.07273 0.22222 1.163e-7 8.113e-7 Hereditary atrial fibrillation Hereditary bundle branch system defect 3 3 NKX2-5 (2), SCN5A (2), SCN1B (2) 0.10345 0.42857 1.160e-7 8.089e-7 3 Nasal disorder Pharyngeal disorder 4 0 NEK6 (1), IL7R (1), FBXO33 (1), GAS2L2 (1) 0.07843 0.17391 1.159e-7 8.084e-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 8.084e-7 22 Kidney neoplasms Thyroid neoplasms 5 0 BRAF (1), MAPK1 (1), PTGS2 (1), CCND1 (1), SLC5A5 (1) 0.06098 0.12500 1.158e-7 8.082e-7 Cardiac conduction disease Sick sinus syndrome 3 2 MYH6 (3), LMNA (1), SCN5A (6) 0.12000 0.33333 1.122e-7 7.835e-7 3 Hematologic disease Polycythemia vera 3 1 H2BC4 (1), H1-2 (1), JAK2 (4) 0.12000 0.33333 1.122e-7 7.835e-7 24 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 7.610e-7 Cervical intraepithelial neoplasia Oral cavity carcinoma 3 0 HLA-DQB1 (1), HLA-B (1), CLPTM1L (1) 0.09375 0.50000 1.073e-7 7.502e-7 1 Diabetic angiopathies Pancreatic diseases 3 3 AGER (2), HMOX1 (2), ALB (2) 0.09375 0.50000 1.073e-7 7.502e-7 Diabetic peripheral angiopathy Pancreatic diseases 3 3 AGER (2), HMOX1 (2), ALB (2) 0.09375 0.50000 1.073e-7 7.502e-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 7.502e-7 133 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 7.444e-7 Cryptorchidism Penile hypospadia 3 0 HOXD13 (1), LSM1 (1), NIPBL (1) 0.11538 0.37500 1.045e-7 7.318e-7 111 Cachexia Hypercalcemia 3 3 TNF (2), IL6 (2), PTHLH (2) 0.13043 0.25000 1.030e-7 7.214e-7 Congenital pes cavus Sensory neuropathy 3 0 MPZ (1), GDAP1 (1), GJB1 (1) 0.13043 0.25000 1.030e-7 7.214e-7 Intracranial hemorrhage Thromboembolism 3 0 PLAU (1), PLAT (1), F7 (1) 0.13043 0.25000 1.030e-7 7.214e-7 Eye neoplasms Oculocutaneous albinism 3 3 OCA2 (7), TYR (6), SLC24A5 (4) 0.13043 0.25000 1.030e-7 7.214e-7 302 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 7.207e-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 7.207e-7 Diffuse cutaneous systemic sclerosis Uveomeningoencephalitic syndrome 3 1 HLA-DQA1 (1), HLA-DRB1 (2), STAT4 (1) 0.10714 0.42857 1.015e-7 7.124e-7 Gastrointestinal stromal tumor Syntelencephaly 4 4 CDON (3), GLI2 (3), PTCH1 (3), DISP1 (3) 0.06780 0.26667 1.015e-7 7.124e-7 110 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 7.074e-7 119 Cystic fibrosis Vasculitis 5 2 SERPINA1 (3), MPO (1), NOS3 (1), SERPINA3 (1), PLG (2) 0.05747 0.17241 9.898e-8 6.955e-7 Azoospermia Male infertility 6 3 BCL2 (2), TDRD9 (1), CFTR (2), HENMT1 (1), MOV10L1 (1), SYCP3 (2) 0.04348 0.18750 9.527e-8 6.696e-7 11 Diabetic angiopathies Transient ischemic attack 4 1 SERPINF1 (2), EPO (1), SOD2 (1), IL1RN (1) 0.08163 0.16667 9.063e-8 6.372e-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 6.372e-7 63 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 6.323e-7 Colobomatous microphthalmia Septo-optic dysplasia 3 3 SHH (2), SOX2 (3), OTX2 (2) 0.13043 0.30000 8.938e-8 6.291e-7 Delirium Dyskinesia, drug-induced 3 3 DRD2 (2), DRD3 (2), TH (2) 0.13043 0.30000 8.938e-8 6.291e-7 118 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 6.289e-7 Aortic disease Turner syndrome 3 3 CAT (2), SOD2 (2), SOD1 (2) 0.12000 0.37500 8.885e-8 6.260e-7 294 Differentiated thyroid carcinoma Papillary thyroid cancer 4 4 BRAF (2), RET (2), CCDC6 (2), NKX2-1 (2) 0.06667 0.28571 8.849e-8 6.236e-7 Diabetic cardiomyopathy Hypertrophy 4 4 AGT (2), IGF2R (2), LEPR (2), AGTR2 (2) 0.06667 0.28571 8.849e-8 6.236e-7 Polymyositis Uveomeningoencephalitic syndrome 3 2 HLA-DQB1 (2), PTPN22 (2), STAT4 (1) 0.11111 0.42857 8.827e-8 6.225e-7 Dystonia Dystonia, dopa-responsive, with or without hyperphenylalaninemia 3 3 GCH1 (4), TSPOAP1 (3), SPR (3) 0.06522 0.75000 8.691e-8 6.131e-7 17p13.3 microduplication syndrome Miller-dieker syndrome 2 2 PAFAH1B1 (2), YWHAE (2) 0.33333 1.00000 8.436e-8 5.953e-7 225 Acromegaly Growth hormone-secreting pituitary adenoma 2 1 AIP (1), GPR101 (2) 0.33333 1.00000 8.436e-8 5.953e-7 235 Anaplasia Intraductal noninfiltrating carcinoma 2 0 CA9 (1), HIF1A (1) 0.33333 1.00000 8.436e-8 5.953e-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 5.953e-7 12 Ankle fracture Upper extremity fracture 2 0 CPED1 (1), WNT16 (1) 0.33333 1.00000 8.436e-8 5.953e-7 Autoinflammatory disease, systemic, x-linked Glucose-6-phosphate dehydrogenase deficiency 2 2 G6PD (3), IKBKG (3) 0.33333 1.00000 8.436e-8 5.953e-7 12 Cortisone reductase deficiency Hyperandrogenism 2 2 HSD11B1 (6), H6PD (6) 0.33333 1.00000 8.436e-8 5.953e-7 De sanctis-cacchione syndrome Uv-sensitive syndrome 2 1 ERCC6 (6), PGBD3 (1) 0.33333 1.00000 8.436e-8 5.953e-7 352 Central areolar choroidal dystrophy Choroidal dystrophy 2 2 PRPH2 (6), GUCY2D (4) 0.33333 1.00000 8.436e-8 5.953e-7 69 Central areolar choroidal dystrophy Choroidal sclerosis 2 2 PRPH2 (3), GUCY2D (3) 0.33333 1.00000 8.436e-8 5.953e-7 69 Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dyskinesia 2 2 SLC2A1 (3), PRRT2 (2) 0.33333 1.00000 8.436e-8 5.953e-7 85 Christ-siemens-touraine syndrome X-linked hypohidrotic ectodermal dysplasia 2 2 EDA (2), EDA2R (2) 0.33333 1.00000 8.436e-8 5.953e-7 76 Commissural facial cleft Tessier facial cleft 2 2 SPECC1L (3), PTCH2 (2) 0.33333 1.00000 8.436e-8 5.953e-7 25 Congenital chronic diarrhea with protein-losing enteropathy Congenital diarrhea 2 2 PLVAP (3), DGAT1 (4) 0.33333 1.00000 8.436e-8 5.953e-7 275 Bloch sulzberger syndrome Glucose-6-phosphate dehydrogenase deficiency 2 1 G6PD (3), IKBKG (1) 0.33333 1.00000 8.436e-8 5.953e-7 12 Brain small vessel disease Cerebral small vessel disease 2 2 COL4A2 (3), COL4A1 (5) 0.33333 1.00000 8.436e-8 5.953e-7 33 Brain small vessel disease Vascular leukoencephalopathy 2 2 COL4A2 (3), COL4A1 (6) 0.33333 1.00000 8.436e-8 5.953e-7 33 Brain small vessel disease Congenital porencephaly 2 2 COL4A2 (2), COL4A1 (5) 0.33333 1.00000 8.436e-8 5.953e-7 33 Brain small vessel disease Posttraumatic porencephalic cyst of brain 2 2 COL4A2 (2), COL4A1 (5) 0.33333 1.00000 8.436e-8 5.953e-7 33 Burn-mckeown syndrome Choanal atresia syndrome 2 2 POLR1A (3), TXNL4A (6) 0.33333 1.00000 8.436e-8 5.953e-7 95 Apert syndrome Cataract-intellectual disability-hypogonadism syndrome 2 2 RAB3GAP1 (3), RAB3GAP2 (3) 0.33333 1.00000 8.436e-8 5.953e-7 90 Paroxysmal familial ventricular fibrillation Ventricular arrhythmia 2 1 DSP (1), RYR2 (3) 0.33333 1.00000 8.436e-8 5.953e-7 Paroxysmal familial ventricular fibrillation Paroxysmal ventricular fibrillation 2 2 DPP6 (2), SCN5A (3) 0.33333 1.00000 8.436e-8 5.953e-7 methemoglobinemia, alpha type Thalassemia 2 2 HBA1 (2), HBA2 (2) 0.33333 1.00000 8.436e-8 5.953e-7 24 erythrocytosis, familial, 7 Thalassemia 2 2 HBA1 (2), HBA2 (2) 0.33333 1.00000 8.436e-8 5.953e-7 24 Uinary system neoplasms Urogenital neoplasms 2 0 SLC2A13 (1), WDR11 (1) 0.33333 1.00000 8.436e-8 5.953e-7 88 Urogenital neoplasms Vulvar lichen sclerosus 2 2 TP53 (2), CDKN2A (2) 0.33333 1.00000 8.436e-8 5.953e-7 Li-fraumeni syndrome Vulvar lichen sclerosus 2 2 TP53 (7), CDKN2A (3) 0.33333 1.00000 8.436e-8 5.953e-7 45 Hemoglobin e disease Lepore-beta-thalassemia syndrome 2 2 HBB (3), HBD (2) 0.33333 1.00000 8.436e-8 5.953e-7 18 Hyperuricemic nephropathy Juvenile hyperuricemic nephropathy 2 2 REN (5), UMOD (3) 0.33333 1.00000 8.436e-8 5.953e-7 Jervell and lange-nielsen syndrome Long qt syndrome, digenic 2 2 KCNQ1 (7), KCNE1 (6) 0.33333 1.00000 8.436e-8 5.953e-7 Autoimmune polyendocrine syndrome Nasopharyngeal neoplasms 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.06667 0.75000 8.099e-8 5.776e-7 1 Nasopharyngeal neoplasms Oropharyngeal neoplasms 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.06667 0.75000 8.099e-8 5.776e-7 1 Fetal akinesia deformation sequence Postsynaptic congenital myasthenic syndrome 3 3 RAPSN (5), MUSK (5), DOK7 (5) 0.13636 0.25000 7.925e-8 5.656e-7 5 Ductal carcinoma of breast Papilloma 3 0 SOD2 (1), PTGS2 (1), ERBB2 (1) 0.13636 0.25000 7.925e-8 5.656e-7 270 Hematuria Steroid-resistant nephrotic syndrome 3 2 COL4A5 (1), COL4A3 (4), COL4A4 (5) 0.13636 0.27273 7.727e-8 5.518e-7 Cataract-microcornea syndrome Congenital total cataract 3 3 CRYBB2 (3), CRYAA (3), GJA8 (4) 0.13043 0.33333 7.703e-8 5.503e-7 51 Beta thalassemia Hereditary hemochromatosis 3 2 TFR2 (2), HFE (1), HAMP (2) 0.11538 0.42857 7.625e-8 5.449e-7 148 Atypical hemolytic uremic syndrome Thrombotic microangiopathy 2 2 CFI (2), CFH (2) 0.40000 0.66667 7.592e-8 5.427e-7 32 Benign mucous membrane pemphigoid Bouillaud’s disease 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.40000 0.66667 7.592e-8 5.427e-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 5.427e-7 1 Blepharophimosis syndrome Blepharophimosis-intellectual disability syndrome 2 2 KAT6B (3), MED12 (5) 0.40000 0.66667 7.592e-8 5.427e-7 Bouillaud’s disease Skeletal system disease 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.40000 0.66667 7.592e-8 5.427e-7 1 Bouillaud’s disease Wheat allergic reaction 2 2 HLA-DQA1 (2), HLA-DRB1 (2) 0.40000 0.66667 7.592e-8 5.427e-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 5.427e-7 65 Carnevale syndrome Malpuech facial clefting syndrome 2 2 COLEC11 (2), MASP1 (2) 0.40000 0.66667 7.592e-8 5.427e-7 292 3mc syndrome Carnevale syndrome 2 2 COLEC11 (3), MASP1 (4) 0.40000 0.66667 7.592e-8 5.427e-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 5.427e-7 1 Acute disseminated encephalomyelitis Bouillaud’s disease 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.40000 0.66667 7.592e-8 5.427e-7 1 Acute disseminated encephalomyelitis Benign mucous membrane pemphigoid 2 0 HLA-DRB1 (1), HLA-DQB1 (1) 0.40000 0.66667 7.592e-8 5.427e-7 1 Alpha thalassemia Hemoglobin m disease 2 2 HBA1 (3), HBA2 (3) 0.40000 0.66667 7.592e-8 5.427e-7 24 Anastomosing haemangioma Capillary malformation 2 2 GNA11 (2), GNAQ (2) 0.40000 0.66667 7.592e-8 5.427e-7 65 Congenital palmoplantar and perioral keratoderma of olmsted Olmsted syndrome 2 2 PERP (4), TRPV3 (5) 0.40000 0.66667 7.592e-8 5.427e-7 Coronal craniosynostosis Saethre-chotzen syndrome 2 2 FGFR3 (2), TWIST1 (6) 0.40000 0.66667 7.592e-8 5.427e-7 Craniofacial dysostosis Lacrimoauriculodentodigital syndrome 2 2 FGFR3 (5), FGFR2 (4) 0.40000 0.66667 7.592e-8 5.427e-7 321 Craniofacial dysostosis Ladd syndrome 2 2 FGFR3 (3), FGFR2 (5) 0.40000 0.66667 7.592e-8 5.427e-7 321 Craniofacial dysostosis Saethre-chotzen syndrome 2 2 FGFR3 (2), FGFR2 (6) 0.40000 0.66667 7.592e-8 5.427e-7 321 Cystine urolithiasis Hypotonia-cystinuria syndrome 2 2 PREPL (2), SLC3A1 (2) 0.40000 0.66667 7.592e-8 5.427e-7 Deafness, aminoglycoside-induced Deafness, nonsyndromic sensorineural, mitochondrial 2 0 ND1 (1), COX1 (1) 0.40000 0.66667 7.592e-8 5.427e-7 244 Chondrocalcinosis Craniometaphyseal dysplasia 2 1 ANKH (6), OTULIN (1) 0.40000 0.66667 7.592e-8 5.427e-7 208 Chromosome 3p25 monosomy Rippling muscle disease 2 2 OXTR (2), CAV3 (6) 0.40000 0.66667 7.592e-8 5.427e-7 349 Hearing loss with stapes fixation Keratitis-ichthyosis-deafness syndrome 2 2 GJB6 (2), GJB2 (3) 0.40000 0.66667 7.592e-8 5.427e-7 68 Hemoglobin barts fetalis syndrome Hemoglobin m disease 2 2 HBA1 (3), HBA2 (2) 0.40000 0.66667 7.592e-8 5.427e-7 24 Hemoglobin h disease Hemoglobin m disease 2 2 HBA1 (5), HBA2 (5) 0.40000 0.66667 7.592e-8 5.427e-7 24 Hepatic methionine adenosyltransferase deficiency Sulfur amino acid metabolism disorder 2 0 AHCY (1), GNMT (1) 0.40000 0.66667 7.592e-8 5.427e-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 5.427e-7 68 Lacrimoauriculodentodigital syndrome Saethre-chotzen syndrome 2 2 FGFR3 (5), FGFR2 (6) 0.40000 0.66667 7.592e-8 5.427e-7 321 Ladd syndrome Saethre-chotzen syndrome 2 2 FGFR3 (4), FGFR2 (6) 0.40000 0.66667 7.592e-8 5.427e-7 321 S-adenosylhomocysteine hydrolase deficiency Sulfur amino acid metabolism disorder 2 1 AHCY (2), GNMT (1) 0.40000 0.66667 7.592e-8 5.427e-7 112 Skeletal system disease Wheat allergic reaction 2 0 HLA-DQA1 (1), HLA-DRB1 (1) 0.40000 0.66667 7.592e-8 5.427e-7 1 Episodic pain syndrome Erythromelalgia 2 2 SCN10A (5), SCN11A (4) 0.40000 0.66667 7.592e-8 5.427e-7 171 Amelogenesis imperfecta Other epidermolysis bullosa 3 2 COL17A1 (2), LAMB3 (5), LAMC2 (1) 0.10345 0.50000 7.537e-8 5.427e-7 Hemangiosarcoma Urologic neoplasms 3 0 TP53 (1), VEGFA (1), CCND1 (1) 0.12500 0.37500 7.484e-8 5.413e-7 Hemochromatosis Iron deficiency anemia 3 3 HFE (6), TNF (2), SLC11A2 (2) 0.13636 0.30000 7.153e-8 5.176e-7 Intervertebral disc disease Stickler syndrome 3 3 COL11A1 (6), COL9A2 (7), COL9A3 (8) 0.13636 0.30000 7.153e-8 5.176e-7 Diabetic cardiomyopathy Vascular system injury 3 3 SPP1 (2), TNF (2), AGTR2 (2) 0.13636 0.30000 7.153e-8 5.176e-7 194 Angina pectoris Carotid artery disease 4 3 PLAU (2), TLR4 (2), MMP1 (1), MMP9 (2) 0.06250 0.33333 7.059e-8 5.113e-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 5.112e-7 Arteriosclerosis Primary graft dysfunction 3 3 GATA2 (2), VCAM1 (2), SENP1 (2) 0.06977 0.75000 6.996e-8 5.071e-7 Anodontia Tooth agenesis 3 3 LTBP3 (2), IRX5 (2), MSX1 (6) 0.06977 0.75000 6.996e-8 5.071e-7 Brachydactyly Congenital cartilage disorder 4 1 SLC26A2 (1), BMPR1B (7), TRPS1 (1), PTH1R (1) 0.08333 0.19048 6.846e-8 4.965e-7 Cadasil Vascular dementia 4 2 TREX1 (1), NOTCH3 (2), ATRIP (1), HTRA1 (2) 0.03053 0.66667 6.747e-8 4.895e-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 4.856e-7 41 Diabetes microvascular complications Transient ischemic attack 3 3 EPO (3), SOD2 (3), IL1RN (3) 0.10714 0.50000 6.634e-8 4.816e-7 Cryptophthalmos syndrome Fraser syndrome 3 3 FRAS1 (7), GRIP1 (6), FREM2 (6) 0.12000 0.42857 6.537e-8 4.748e-7 90 Exudative retinopathy Retinopathy of prematurity 3 2 PRSS23 (1), FZD4 (2), NDP (2) 0.12000 0.42857 6.537e-8 4.748e-7 189 Oral submucous fibrosis Varicose veins 3 3 MMP1 (2), MMP9 (2), TIMP1 (2) 0.12000 0.42857 6.537e-8 4.748e-7 Antiphospholipid syndrome Benign hereditary chorea 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.12000 0.42857 6.537e-8 4.748e-7 1 Neuronal ceroid lipofuscinosis Visual disorder 4 4 CLN3 (7), CLN6 (7), PPT1 (7), CLN5 (7) 0.08333 0.20000 6.366e-8 4.630e-7 191 Pontocerebellar hypoplasia Visual disorder 4 4 TSEN2 (7), TSEN54 (7), CLN5 (2), TSEN34 (6) 0.08333 0.20000 6.366e-8 4.630e-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 4.629e-7 73 Edema Hypercalcemia 4 4 TNF (2), IL6 (2), PTHLH (2), CALCA (2) 0.06780 0.30769 6.335e-8 4.613e-7 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 4.600e-7 Cor pulmonale Venous insufficiency 3 0 ABO (1), SLC19A2 (1), F5 (1) 0.13636 0.33333 6.261e-8 4.563e-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 4.563e-7 1 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 4.547e-7 Cystic fibrosis Cystic fibrosis-related diabetes 3 1 CEBPB (1), RAB7B (1), SLC26A9 (4) 0.04762 1.00000 6.217e-8 4.534e-7 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 4.433e-7 Congenital fiber type disproportion myopathy Congenital structural myopathy 3 1 MTM1 (1), RYR1 (1), TPM3 (3) 0.14286 0.27273 5.946e-8 4.340e-7 377 Autoimmune musculoskeletal system disorder Cutaneous lupus erythematosus 3 0 HLA-DQA1 (1), HLA-DRB1 (1), ITGAM (1) 0.14286 0.27273 5.946e-8 4.340e-7 1 Hyperhomocysteinemia Neural tube defect 4 4 MTHFR (2), MTRR (2), CBS (2), MTR (2) 0.06897 0.30769 5.821e-8 4.251e-7 Costello syndrome Myelomonocytic leukemia 3 3 KRAS (4), NRAS (4), PTPN11 (6) 0.14286 0.30000 5.622e-8 4.108e-7 49 Occupational disease Pleural diseases 3 2 TIMP2 (2), TGFB1 (2), CARD8 (1) 0.14286 0.30000 5.622e-8 4.108e-7 12 Aortic disease Bonnevie-ullrich syndrome 3 3 CAT (2), SOD2 (2), SOD1 (2) 0.12500 0.42857 5.558e-8 4.063e-7 294 Cerebellar atrophy Dandy-walker syndrome 4 0 HYLS1 (1), PUS3 (1), MAGED2 (1), TMEM47 (1) 0.08511 0.20000 5.549e-8 4.059e-7 Cecal neoplasms Uterine neoplasms 3 0 CTNNB1 (1), KRAS (1), CCND1 (1) 0.07500 0.75000 5.537e-8 4.051e-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 3.954e-7 Nasopharyngeal carcinoma Sezary syndrome 4 1 PTEN (1), TP53 (3), ARID1A (1), CDKN2A (1) 0.08696 0.18182 5.366e-8 3.929e-7 Byzanthine arch palate Mitral valve prolapse 4 0 FBN1 (1), PLOD1 (1), NSDHL (1), MAP2K2 (1) 0.07018 0.30769 5.338e-8 3.910e-7 Hemangiosarcoma Transitional cell carcinoma 4 0 TP53 (1), CSF3 (1), HRAS (1), CCND1 (1) 0.08333 0.22222 5.236e-8 3.836e-7 4 Bronchial disease Bronchitis 4 0 CASP14 (1), HOMEZ (1), PPP2R5E (1), TEKTL1 (1) 0.08333 0.22222 5.236e-8 3.836e-7 Cystitis Interstitial cystitis 4 4 NGF (2), CXCL10 (2), CXCL9 (2), CXCL11 (2) 0.07692 0.26667 5.219e-8 3.827e-7 Body mass index Body weight 3 3 FTO (2), MC4R (3), PCSK1 (2) 0.13636 0.37500 5.139e-8 3.769e-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 3.769e-7 144 Crest syndrome Scleroderma 4 4 CAV1 (2), IRF5 (3), STAT4 (3), CCN2 (2) 0.08696 0.19048 5.124e-8 3.761e-7 22 Autoinflammatory syndrome Hyper-immunoglobulin d syndrome 3 1 MVK (3), HMGCR (1), MMAB (1) 0.07692 0.75000 5.100e-8 3.745e-7 Arginine vasopressin resistance Neurogenic diabetes insipidus 2 2 AQP2 (6), AVPR2 (5) 0.40000 1.00000 5.062e-8 3.718e-7 Arginine vasopressin resistance Nephrogenic diabetes insipidus 2 2 AQP2 (3), AVPR2 (3) 0.40000 1.00000 5.062e-8 3.718e-7 Arteriovenous hemangioma Blue rubber bleb nevus syndrome 2 1 GLMN (1), TEK (2) 0.40000 1.00000 5.062e-8 3.718e-7 257 Asymmetric septal hypertrophy Scapuloperoneal myopathy 2 1 MYH7 (1), FHL1 (3) 0.40000 1.00000 5.062e-8 3.718e-7 104 Axenfeld anomaly Rieger syndrome 2 2 FOXC1 (2), PITX2 (2) 0.40000 1.00000 5.062e-8 3.718e-7 82 Benign neonatal epilepsy Benign neonatal-infantile seizures 2 2 KCNQ2 (3), SCN2A (3) 0.40000 1.00000 5.062e-8 3.718e-7 213 Bestrophinopathy Vitreoretinochoroidopathy 2 1 BEST1 (7), FTH1 (1) 0.40000 1.00000 5.062e-8 3.718e-7 415 Combined molybdoflavoprotein enzyme deficiency Glycoprotein ia deficiency 2 0 ITGA2 (1), MOCS2 (1) 0.40000 1.00000 5.062e-8 3.718e-7 Commisural aphasia Dysphasia 2 0 PLAT (1), L1CAM (1) 0.40000 1.00000 5.062e-8 3.718e-7 29 Congenital aniridia Wagr syndrome 2 2 WT1 (4), PAX6 (4) 0.40000 1.00000 5.062e-8 3.718e-7 86 Congenital bilateral absence of vas deferens Obstructive azoospermia 2 2 CFTR (5), ADGRG2 (4) 0.40000 1.00000 5.062e-8 3.718e-7 Congenital cerebral aneurysm Developmental venous anomaly 2 0 PDCD10 (1), CCM2 (1) 0.40000 1.00000 5.062e-8 3.718e-7 249 Congenital malformation of cerebral vessels Developmental venous anomaly 2 0 PDCD10 (1), CCM2 (1) 0.40000 1.00000 5.062e-8 3.718e-7 249 Congenital secretory diarrhea Congenital sodium diarrhea 2 2 SLC9A3 (4), GUCY2C (2) 0.40000 1.00000 5.062e-8 3.718e-7 275 Deafness enamel hypoplasia nail defects Heimler syndrome 2 2 PEX6 (5), PEX1 (4) 0.40000 1.00000 5.062e-8 3.718e-7 141 Deafness-enamel hypoplasia-nail defects syndrome Heimler syndrome 2 2 PEX6 (4), PEX1 (4) 0.40000 1.00000 5.062e-8 3.718e-7 141 Dejerine-lichtheim phenomenon Dysphasia 2 0 PLAT (1), L1CAM (1) 0.40000 1.00000 5.062e-8 3.718e-7 29 Delta-beta thalassemia Lepore-beta-thalassemia syndrome 2 2 HBB (3), HBD (3) 0.40000 1.00000 5.062e-8 3.718e-7 18 Cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome 2 2 STN1 (7), CTC1 (7) 0.40000 1.00000 5.062e-8 3.718e-7 138 Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dystonic choreoathetosis 2 2 SLC2A1 (3), PRRT2 (2) 0.40000 1.00000 5.062e-8 3.718e-7 85 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 3.718e-7 90 Cataract-intellectual disability-hypogonadism syndrome Warburg micro syndrome 2 2 RAB3GAP1 (7), RAB3GAP2 (7) 0.40000 1.00000 5.062e-8 3.718e-7 90 17 alpha-hydroxyprogesterone aldolase deficiency Male pseudohypopituitarism 2 2 AKR1C2 (2), AKR1C4 (2) 0.40000 1.00000 5.062e-8 3.718e-7 363 22q13 monosomy syndrome 22q13.3 deletion syndrome 2 2 INS (2), SHANK3 (2) 0.40000 1.00000 5.062e-8 3.718e-7 224 Acrofacial dysostosis Curry-hall syndrome 2 2 EVC (2), EVC2 (3) 0.40000 1.00000 5.062e-8 3.718e-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 3.718e-7 91 Aphasia Dysphasia 2 2 PLAT (2), L1CAM (2) 0.40000 1.00000 5.062e-8 3.718e-7 29 Dysphasia Postictal aphasia 2 0 PLAT (1), L1CAM (1) 0.40000 1.00000 5.062e-8 3.718e-7 29 Dysphasia Syntactic aphasia 2 0 PLAT (1), L1CAM (1) 0.40000 1.00000 5.062e-8 3.718e-7 29 Hyper-immunoglobulin d syndrome Mevalonate kinase deficiency 2 1 MVK (4), HMGCR (1) 0.40000 1.00000 5.062e-8 3.718e-7 327 Hyper-immunoglobulin m syndrome Hyper-immunoglobulin syndrome 2 0 AICDA (1), CD40 (1) 0.40000 1.00000 5.062e-8 3.718e-7 266 Iridogoniodysgenesis Rieger syndrome 2 2 FOXC1 (2), PITX2 (3) 0.40000 1.00000 5.062e-8 3.718e-7 82 Mainzer-saldino disease Saldino-mainzer syndrome 2 2 IFT140 (3), IFT172 (2) 0.40000 1.00000 5.062e-8 3.718e-7 Mandibuloacral dysplasia Restrictive dermopathy 2 2 LMNA (6), ZMPSTE24 (7) 0.40000 1.00000 5.062e-8 3.718e-7 83 Multifocal osteomyelitis Recurrent multifocal osteomyelitis 2 2 IL1R1 (4), IL1RN (3) 0.40000 1.00000 5.062e-8 3.718e-7 219 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Yorifuji okuno syndrome 2 2 GATA4 (2), GATA6 (3) 0.40000 1.00000 5.062e-8 3.718e-7 106 platelet-type bleeding disorder 16 Thrombasthenia 2 2 ITGB3 (3), ITGA2B (3) 0.40000 1.00000 5.062e-8 3.718e-7 67 Porphyruria Variegate porphyria 2 1 HFE (1), PPOX (6) 0.40000 1.00000 5.062e-8 3.718e-7 251 Glanzmann thrombasthenia Thrombasthenia 2 2 ITGB3 (8), ITGA2B (8) 0.40000 1.00000 5.062e-8 3.718e-7 67 Gorlin syndrome nevoid basal cell carcinoma syndrome 2 2 PTCH1 (3), PTCH2 (2) 0.40000 1.00000 5.062e-8 3.718e-7 25 Aniridia Anophthalmia 3 3 ELP4 (5), PAX6 (4), SOX2 (2) 0.14286 0.33333 5.010e-8 3.718e-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 3.635e-7 Bone osteosarcoma Osteosarcoma 3 3 CHEK2 (3), TP53 (3), RB1 (3) 0.05172 1.00000 4.810e-8 3.586e-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 3.495e-7 Anorexia Nausea 3 2 TNF (2), IFNA2 (1), TNFRSF10A (2) 0.13043 0.42857 4.681e-8 3.492e-7 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 3.492e-7 Chorea Pemphigus vulgaris 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.13043 0.42857 4.681e-8 3.492e-7 1 Cyclocephaly Semilobar holoprosencephaly 3 3 FGF8 (2), GAS1 (2), ZIC2 (2) 0.13043 0.42857 4.681e-8 3.492e-7 Asbestosis Sepsis 4 4 IL1B (2), TNF (2), NLRP3 (2), NOS2 (2) 0.08333 0.23529 4.619e-8 3.451e-7 Angina pectoris Brain edema 3 1 PLAU (2), TNF (1), MMP9 (1) 0.15000 0.30000 4.326e-8 3.233e-7 Cachexia Delirium 3 3 IGF1 (2), IL6 (2), CXCL8 (2) 0.15000 0.30000 4.326e-8 3.233e-7 Cachexia Esotropia 3 2 TNF (2), PTGS2 (2), CXCL8 (1) 0.15000 0.30000 4.326e-8 3.233e-7 43 Papilloma Tongue neoplasms 3 0 SOD2 (1), PTGS2 (1), HRAS (1) 0.15000 0.30000 4.326e-8 3.233e-7 270 Cardiofaciocutaneous syndrome Myelomonocytic leukemia 3 3 KRAS (8), NRAS (3), PTPN11 (6) 0.15000 0.30000 4.326e-8 3.233e-7 49 Hemolytic anemia Rh deficiency syndrome 3 3 RHAG (3), RHCE (4), RHD (4) 0.05357 1.00000 4.312e-8 3.229e-7 Coach syndrome Cystic kidney disease 3 3 CC2D2A (3), RPGRIP1L (3), TMEM67 (5) 0.10345 0.60000 4.264e-8 3.194e-7 Sarcoma Thyroid neoplasms 5 1 HNF1B (1), TP53 (2), TNF (1), CSF2 (1), IL6 (1) 0.06667 0.15152 4.241e-8 3.177e-7 4 Cholangiocarcinoma Hereditary breast and ovarian cancer syndrome 4 4 PTEN (2), TP53 (2), BRCA2 (4), BRCA1 (4) 0.08000 0.26667 4.220e-8 3.163e-7 Chronic obstructive pulmonary disease Emphysema 5 1 TP53 (1), SERPINA1 (2), NOS2 (1), TNFRSF8 (1), HDAC2 (1) 0.06757 0.13889 4.181e-8 3.134e-7 133 Congenital hypoplasia of kidney Renal agenesis 3 1 RET (2), EYA1 (1), WNT9B (1) 0.14286 0.37500 4.176e-8 3.132e-7 161 Haddad syndrome Hirschsprung disease 4 4 RET (5), GDNF (4), EDN3 (5), PHOX2B (4) 0.05479 0.44444 4.058e-8 3.044e-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 3.044e-7 331 Congenital microcephaly Seckel syndrome 4 2 CDK5RAP2 (1), CEP152 (6), CPAP (6), RNF17 (1) 0.08696 0.22222 4.032e-8 3.027e-7 137 Brachycephaly Craniosynostosis 4 3 FGFR3 (1), TCF12 (3), TWIST1 (3), ZIC1 (6) 0.06061 0.40000 4.013e-8 3.014e-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 2.962e-7 Erythrocytosis Polycythemia vera 3 3 HBA1 (6), HBB (5), JAK2 (5) 0.15000 0.33333 3.937e-8 2.960e-7 24 Congenital arteriovenous malformation Costello syndrome 3 2 MAP2K1 (3), HRAS (6), LRRC56 (1) 0.15000 0.33333 3.937e-8 2.960e-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 2.955e-7 Congenital neutropenia Shwachman-diamond syndrome 3 2 SRP19 (1), SRP54 (5), SRPRA (2) 0.13636 0.42857 3.902e-8 2.936e-7 Gallbladder neoplasms Nasopharyngeal carcinoma 4 1 TP53 (3), ERBB3 (1), KRAS (1), ERBB2 (1) 0.09091 0.18182 3.875e-8 2.917e-7 Cervical disc degenerative disorder Oral submucous fibrosis 3 3 TNF (2), TGFB1 (2), COL1A1 (2) 0.12500 0.50000 3.739e-8 2.815e-7 Learning disorders Neurodegenerative disorder 5 5 APP (2), PSEN1 (2), MAPT (2), HMOX1 (2), APOD (2) 0.06849 0.13889 3.689e-8 2.779e-7 Multinodular goiter Thyroid disease 5 0 NFIA (1), INSR (1), TG (1), FAM227B (1), MICOS10 (1) 0.06494 0.17857 3.685e-8 2.777e-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 2.774e-7 Aplastic anemia Asbestosis 4 2 GSTT1 (2), TNF (2), EPHX1 (1), GSTM1 (1) 0.08696 0.23529 3.587e-8 2.705e-7 Chloracne Delta-beta thalassemia 3 3 HBB (4), HBD (3), HBG1 (3) 0.08571 0.75000 3.582e-8 2.702e-7 Carcinogenesis Lymphatic metastasis 4 0 BRAF (1), MET (1), ERBB2 (1), CDKN2A (1) 0.08889 0.22222 3.514e-8 2.652e-7 Nystagmus Strabismus 5 0 KIF7 (1), BFSP2 (1), GALC (1), GNB1 (1), TYR (1) 0.06849 0.14706 3.500e-8 2.642e-7 Bouillaud’s disease Narcolepsy 3 3 HLA-DQA1 (2), HLA-DRB1 (4), HLA-DQB1 (4) 0.05769 1.00000 3.423e-8 2.585e-7 1 Diabetic cardiomyopathy Rhabdomyolysis 3 3 INS (2), ATP2A2 (3), RYR2 (3) 0.15000 0.37500 3.342e-8 2.524e-7 Autosomal recessive ataxia Peroxisome biogenesis disorder 3 3 PEX10 (8), PEX16 (8), PEX2 (7) 0.11111 0.60000 3.320e-8 2.509e-7 Hemorrhage Venous thrombosis 4 0 PLAU (1), F2 (1), PLAT (1), F7 (1) 0.09302 0.18182 3.258e-8 2.463e-7 36 Hyperinsulinemic hypoglycemia monogenic diabetes 3 3 ABCC8 (4), KCNJ11 (5), GCK (4) 0.15789 0.30000 3.246e-8 2.455e-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 2.455e-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 2.405e-7 Hyperparathyroidism Rickets 3 3 VDR (2), PTH (2), PTH1R (2) 0.13043 0.50000 3.178e-8 2.405e-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 2.397e-7 Congenital brain malformation Pontocerebellar hypoplasia 4 4 SEPSECS (5), CHMP1A (5), AMPD2 (6), TOE1 (5) 0.08889 0.23529 3.141e-8 2.379e-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 2.379e-7 Microgyria Pontocerebellar hypoplasia 4 4 SEPSECS (5), CHMP1A (5), AMPD2 (6), TOE1 (5) 0.08889 0.23529 3.141e-8 2.379e-7 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 2.357e-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 2.352e-7 26 Cleft palate Uranostaphyloschisis 5 2 MEIS2 (1), TBX22 (1), IRF6 (2), SATB2 (2), ARHGAP29 (1) 0.06250 0.20833 3.043e-8 2.310e-7 Disseminated intravascular coagulation Thromboembolism 3 3 F2 (2), PROC (2), F7 (2) 0.15789 0.33333 3.030e-8 2.300e-7 36 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 2.300e-7 127 Cole-carpenter syndrome Osteoporosis-pseudoglioma syndrome 3 3 CRTAP (3), P4HB (6), SEC24D (6) 0.06000 1.00000 3.028e-8 2.300e-7 127 autosomal recessive primary microcephaly Congenital microcephaly 3 3 ASPM (2), CDK5RAP2 (2), STIL (2) 0.09091 0.75000 2.951e-8 2.243e-7 Sleep apnea Sleep disorder 4 0 BTBD9 (1), SLC39A8 (1), MEIS1 (1), BFSP1 (1) 0.07018 0.36364 2.938e-8 2.234e-7 125 Congenital clubfoot Congenital hemivertebra 3 0 BLTP1 (1), PKD1 (1), INPP5E (1) 0.11538 0.60000 2.905e-8 2.210e-7 Malnutrition Neural tube defect 3 3 MTHFR (2), CBS (2), MTR (2) 0.06122 1.00000 2.843e-8 2.163e-7 Autoinflammatory syndrome Lymphoproliferative syndrome 4 4 XIAP (3), ITK (5), CD27 (4), SH2D1A (3) 0.08333 0.28571 2.776e-8 2.113e-7 Anhedonia Cognition disorder 5 5 COMT (2), CRH (2), DRD2 (2), SLC6A4 (2), CACNA1C (2) 0.06579 0.19231 2.729e-8 2.078e-7 Rolandic epilepsy Unverricht-lundborg syndrome 3 3 SCARB2 (2), PRICKLE1 (2), CSTB (5) 0.06250 1.00000 2.665e-8 2.030e-7 C3 glomerulonephritis Macular and posterior pole degeneration 3 3 CFI (3), C3 (3), CFH (4) 0.15789 0.37500 2.626e-8 2.001e-7 32 Cyclocephaly Septopreoptic holoprosencephaly 3 3 FGF8 (2), GAS1 (2), ZIC2 (2) 0.15000 0.42857 2.612e-8 1.991e-7 Cyclocephaly Syntelencephaly 3 3 FGF8 (2), GAS1 (2), ZIC2 (2) 0.15000 0.42857 2.612e-8 1.991e-7 Arrhythmogenic right ventricular dysplasia Distal muscular dystrophy 3 0 LDB3 (1), MYH7 (1), TTN (1) 0.15000 0.42857 2.612e-8 1.991e-7 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 1.967e-7 4 methemoglobinemia, alpha type Unstable hemoglobin disease 2 2 HBA1 (3), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 erythrocytosis, familial, 7 Unstable hemoglobin disease 2 2 HBA1 (3), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 Hearing loss with stapes fixation Senter syndrome 2 2 GJB6 (2), GJB2 (2) 0.50000 1.00000 2.531e-8 1.932e-7 68 Hemoglobin barts fetalis syndrome methemoglobinemia, alpha type 2 2 HBA1 (3), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 Hemoglobin h disease methemoglobinemia, alpha type 2 2 HBA1 (6), HBA2 (6) 0.50000 1.00000 2.531e-8 1.932e-7 24 Hemoglobin m disease methemoglobinemia, alpha type 2 2 HBA1 (4), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 Hyperkalemic periodic paralysis Paramyotonia congenita 2 1 SCN4A (5), RANBP2 (1) 0.50000 1.00000 2.531e-8 1.932e-7 170 erythrocytosis, familial, 7 Hemoglobin barts fetalis syndrome 2 2 HBA1 (3), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 erythrocytosis, familial, 7 Hemoglobin h disease 2 2 HBA1 (6), HBA2 (6) 0.50000 1.00000 2.531e-8 1.932e-7 24 erythrocytosis, familial, 7 Hemoglobin m disease 2 2 HBA1 (4), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 Gm2 gangliosidosis Tay-sachs disease 2 2 HEXA (7), GM2A (6) 0.50000 1.00000 2.531e-8 1.932e-7 Senter syndrome X-linked hearing loss with perilymphatic gusher 2 2 GJB6 (2), GJB2 (2) 0.50000 1.00000 2.531e-8 1.932e-7 68 Spinocerebellar ataxia, x-linked X-linked progressive cerebellar ataxia 2 2 ATP2B3 (5), GJB1 (3) 0.50000 1.00000 2.531e-8 1.932e-7 422 Keratitis-ichthyosis-deafness syndrome Senter syndrome 2 1 GJB6 (1), GJB2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 68 Mandibuloacral dysostosis Restrictive dermopathy 2 2 LMNA (5), ZMPSTE24 (4) 0.50000 1.00000 2.531e-8 1.932e-7 83 Digitrenocerebral syndrome Doors syndrome 2 2 TBC1D24 (4), ATP6V1B2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 105 Dyssegmental dysplasia Schwartz-jampel syndrome 2 1 HSPG2 (7), LDLRAD2 (1) 0.50000 1.00000 2.531e-8 1.932e-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 1.932e-7 222 ehlers-danlos syndrome, classic type Neuropathic spinal arthropathy 2 2 COL5A1 (2), COL5A2 (2) 0.50000 1.00000 2.531e-8 1.932e-7 Alopecia-intellectual disability syndrome Perniola krajewska carnevale syndrome 2 2 AHSG (2), LSS (2) 0.50000 1.00000 2.531e-8 1.932e-7 386 Alpha thalassemia methemoglobinemia, alpha type 2 2 HBA1 (3), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 Alpha thalassemia erythrocytosis, familial, 7 2 2 HBA1 (3), HBA2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 24 Anastomosing haemangioma Congenital hemangioma 2 2 GNA11 (2), GNAQ (2) 0.50000 1.00000 2.531e-8 1.932e-7 65 Apoceruloplasmin deficiency Ferroxidase deficiency 2 2 CP (3), SLC40A1 (2) 0.50000 1.00000 2.531e-8 1.932e-7 188 Congenital scoliosis Geleophysic dysplasia 2 2 FBN1 (5), LTBP3 (6) 0.50000 1.00000 2.531e-8 1.932e-7 28 Craniofacial dysostosis Crouzon syndrome 2 2 FGFR2 (7), ERF (2) 0.50000 1.00000 2.531e-8 1.932e-7 Craniofaciosynostosis Trigonocephaly 2 2 FGFR1 (3), FREM1 (4) 0.50000 1.00000 2.531e-8 1.932e-7 139 Craniometadiaphyseal dysplasia Craniometaphyseal dysplasia 2 1 ANKH (6), OTULIN (1) 0.50000 1.00000 2.531e-8 1.932e-7 208 Craniometaphyseal dysplasia Schwartz-lelek syndrome 2 2 ANKH (6), GJA1 (6) 0.50000 1.00000 2.531e-8 1.932e-7 208 Curry-hall syndrome Weyers acrofacial dysostosis 2 2 EVC (4), EVC2 (4) 0.50000 1.00000 2.531e-8 1.932e-7 233 Cystinosis Nephropathic cystinosis 2 1 CTNS (8), TAX1BP3 (1) 0.50000 1.00000 2.531e-8 1.932e-7 Deafness with congenital onychodystrophy Digitrenocerebral syndrome 2 1 TBC1D24 (1), ATP6V1B2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 105 Deafness, aminoglycoside-induced Deafness, sensorineural, autosomal-mitochondrial type 2 1 ND1 (1), COX1 (2) 0.50000 1.00000 2.531e-8 1.932e-7 244 Deafness, nonsyndromic sensorineural, mitochondrial Deafness, sensorineural, autosomal-mitochondrial type 2 1 ND1 (1), COX1 (2) 0.50000 1.00000 2.531e-8 1.932e-7 244 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 1.932e-7 176 Combined immunodeficiency with facio-oculo-skeletal anomalies Roifman syndrome 2 2 PIK3CD (5), KNSTRN (5) 0.50000 1.00000 2.531e-8 1.932e-7 375 Combined immunodeficiency with granulomatosis Combined immunodeficiency with skin granulomas 2 2 RAG1 (3), RAG2 (3) 0.50000 1.00000 2.531e-8 1.932e-7 176 Combined immunodeficiency-multiple intestinal atresia Combined immunodeficiency, enteropathy spectrum 2 2 PI4KA (2), TTC7A (2) 0.50000 1.00000 2.531e-8 1.932e-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 1.932e-7 269 Combined immunodeficiency, x-linked X-linked combined immunodeficiency diseases 2 2 IL2RG (4), SASH3 (3) 0.50000 1.00000 2.531e-8 1.932e-7 Congenital leukocyte adherence deficiency Leukocyte adhesion deficiency 2 2 FERMT3 (7), ITGB2 (6) 0.50000 1.00000 2.531e-8 1.932e-7 142 Benign hypercalcemia Hypocalciuric hypercalcemia 2 2 AP2S1 (6), CASR (7) 0.50000 1.00000 2.531e-8 1.932e-7 210 Beta-hydroxyisobutyryl-coa deacylase deficiency Cowchock syndrome 2 1 AIFM1 (2), RAB33A (1) 0.50000 1.00000 2.531e-8 1.932e-7 367 Caudal regression syndrome Sacral defect 2 2 PCSK5 (2), VANGL1 (5) 0.50000 1.00000 2.531e-8 1.932e-7 109 Cerebral creatine deficiency syndrome Creatine deficiency 2 2 GAMT (3), SLC6A8 (4) 0.50000 1.00000 2.531e-8 1.932e-7 380 Chondrocalcinosis Craniometadiaphyseal dysplasia 2 1 ANKH (5), OTULIN (1) 0.50000 1.00000 2.531e-8 1.932e-7 208 Blue cone monochromatism Cone monochromatism 2 2 OPN1LW (6), OPN1MW (6) 0.50000 1.00000 2.531e-8 1.932e-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 1.932e-7 217 Bone osteosarcoma Osteogenic sarcoma 2 2 CHEK2 (2), RB1 (2) 0.50000 1.00000 2.531e-8 1.932e-7 Bor syndrome Branchiootic syndrome 2 2 EYA1 (6), SIX1 (6) 0.50000 1.00000 2.531e-8 1.932e-7 134 Brown-vialetto-van laere syndrome Riboflavin transporter deficiency 2 2 SLC52A3 (7), SLC52A2 (6) 0.50000 1.00000 2.531e-8 1.932e-7 Capillary malformation Congenital hemangioma 2 2 GNA11 (2), GNAQ (2) 0.50000 1.00000 2.531e-8 1.932e-7 65 Gastrointestinal stromal tumor Holoprosencephaly 5 5 CDON (6), GLI2 (6), PTCH1 (7), BOC (2), DISP1 (5) 0.06944 0.17241 2.393e-8 1.862e-7 110 Hemolytic uremic syndrome Mitochondrial myopathy 4 4 IL1A (2), IL1B (2), TNF (2), IL6 (2) 0.08889 0.26667 2.346e-8 1.827e-7 Atrioventricular septal defect Ventricular septal defect 4 3 GATA4 (5), TBX5 (1), GATA6 (6), CRELD1 (6) 0.07843 0.33333 2.329e-8 1.814e-7 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 1.775e-7 Hyperinsulinemic hypoglycemia Transient neonatal diabetes mellitus 3 3 ABCC8 (6), KCNJ11 (6), GCK (4) 0.16667 0.33333 2.273e-8 1.771e-7 35 Cardiac conduction disease Short qt syndrome 3 0 CACNB2 (1), TRPM4 (1), SCN5A (1) 0.16667 0.33333 2.273e-8 1.771e-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 1.759e-7 46 Astigmatism Hyperopia 4 1 ANKRD11 (2), SLC9A6 (1), MCM7 (1), SCLT1 (1) 0.04819 0.57143 2.220e-8 1.732e-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 1.732e-7 26 Cholangiocarcinoma Giant cell glioblastoma 4 3 TP53 (2), EGFR (2), IDH1 (2), ROS1 (1) 0.08333 0.30769 2.219e-8 1.732e-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 1.721e-7 Beta thalassemia Hemoglobin e disease 3 3 BCL11A (2), HBS1L (2), HBB (8) 0.12500 0.60000 2.182e-8 1.705e-7 Dystonia Early-onset generalized limb-onset dystonia 3 3 EIF2AK2 (6), TOR1A (6), SHQ1 (4) 0.06667 1.00000 2.177e-8 1.702e-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 1.702e-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 1.693e-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 1.684e-7 Angina pectoris Arteriosclerosis 4 2 TLR4 (2), MMP1 (1), MMP9 (2), ITGA2 (1) 0.08000 0.33333 2.108e-8 1.650e-7 Distal muscular dystrophy Distal myopathy 3 3 MATR3 (2), MYH7 (2), TTN (2) 0.15789 0.42857 2.090e-8 1.637e-7 Iron overload Neurodegeneration with brain iron accumulation 3 2 CP (3), BEST1 (1), FTH1 (6) 0.15789 0.42857 2.090e-8 1.637e-7 Extravasation of diagnostic and therapeutic materials Hyperemia 3 3 TAC1 (2), KNG1 (2), BDKRB2 (2) 0.15789 0.42857 2.090e-8 1.637e-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 1.637e-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 1.597e-7 Bouillaud’s disease Nasopharyngeal neoplasms 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.06818 1.00000 2.029e-8 1.592e-7 1 Dravet syndrome Lennox-gastaut syndrome 3 3 GABRG2 (3), SCN1A (5), SCN2A (2) 0.16667 0.37500 2.021e-8 1.586e-7 228 Amnesia Bradycardia 4 4 TRH (2), PDYN (2), POMC (2), TAC1 (2) 0.09756 0.22222 1.923e-8 1.510e-7 66 Fetal akinesia deformation sequence Myasthenic syndrome 4 4 RAPSN (6), MUSK (6), SLC18A3 (4), DOK7 (5) 0.08163 0.33333 1.903e-8 1.495e-7 5 Brachydactyly Syndactyly 4 2 IHH (6), TULP1 (1), HOXD13 (7), IQCE (1) 0.10000 0.19048 1.840e-8 1.446e-7 Congenital total cataract Sutural cataract 3 3 CRYBB2 (3), GJA8 (2), MIP (3) 0.15000 0.50000 1.838e-8 1.444e-7 51 Cyclin-dependent kinase-like 5 deficiency Rett syndrome 3 2 CDKL5 (4), MECP2 (7), RS1 (1) 0.15000 0.50000 1.838e-8 1.444e-7 55 Mitochondrial dna depletion syndrome Mitochondrial encephalomyopathy 4 4 POLG (5), SCO2 (2), TYMP (4), FBXL4 (6) 0.09524 0.25000 1.818e-8 1.430e-7 Dermatomyositis Systemic scleroderma 4 1 HLA-DRB5 (1), HLA-DPB1 (1), STAT4 (2), HLA-DPA1 (1) 0.09302 0.26667 1.806e-8 1.421e-7 22 Retinal detachment Stargardt disease 5 3 ABCA4 (4), COL2A1 (3), CRB1 (2), EYS (1), RHO (1) 0.07143 0.17857 1.776e-8 1.398e-7 Blindness Rod-cone dystrophy 4 1 USH2A (1), RPE65 (2), CEP290 (1), RHO (1) 0.09091 0.28571 1.723e-8 1.357e-7 Cleft eyelid Congenital ocular coloboma 3 0 PAX6 (1), FZD5 (1), SALL2 (1) 0.10714 0.75000 1.708e-8 1.345e-7 25 Cerebroretinal microangiopathy with calcifications and cysts Dyskeratosis congenita 3 2 POT1 (4), PFAS (1), CTC1 (7) 0.10714 0.75000 1.708e-8 1.345e-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 1.323e-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 1.317e-7 Hypertrophy Urethral obstruction 5 0 AGT (1), COL3A1 (1), FN1 (1), NPPA (1), EDN1 (1) 0.07042 0.19231 1.655e-8 1.306e-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 1.303e-7 22 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 1.297e-7 Amelogenesis imperfecta Junctional epidermolysis bullosa 4 4 COL7A1 (4), COL17A1 (7), LAMB3 (6), LAMC2 (6) 0.10000 0.22222 1.628e-8 1.286e-7 Diabetic foot Neuropathy 3 0 LNX1 (1), TRDN (1), UNC5D (1) 0.13636 0.60000 1.590e-8 1.257e-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 1.243e-7 46 Cone dystrophy Congenital stationary night blindness 4 3 CACNA1F (2), PDE6B (4), CABP4 (1), RHO (4) 0.08511 0.33333 1.539e-8 1.217e-7 Double outlet right ventricle Transposition of the great arteries 3 1 CFC1 (1), CERS1 (1), GDF1 (2) 0.17647 0.37500 1.516e-8 1.199e-7 56 Lamellar cataract Posterior polar cataract 3 3 CRYAB (2), MIP (3), CRYBA1 (2) 0.17647 0.37500 1.516e-8 1.199e-7 51 Bruck syndrome Osteogenesis imperfecta 3 3 PLOD2 (6), FKBP10 (6), COL1A2 (7) 0.07500 1.00000 1.502e-8 1.189e-7 Cole-carpenter syndrome Osteogenesis imperfecta 3 3 CRTAP (7), P4HB (6), SEC24D (6) 0.07500 1.00000 1.502e-8 1.189e-7 127 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 1.183e-7 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 1.183e-7 Penile disease Urinary system disease 3 0 SLC9A9 (1), LRRC75A (1), ZNF287 (1) 0.15789 0.50000 1.493e-8 1.183e-7 117 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 1.180e-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 1.159e-7 Berylliosis Urticaria 4 1 HLA-DRB1 (1), TNF (1), TGFB1 (1), HLA-DPB1 (3) 0.07547 0.40000 1.445e-8 1.147e-7 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 1.144e-7 119 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 1.132e-7 58 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 1.109e-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 1.092e-7 41 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 1.091e-7 Hereditary atrial fibrillation Sick sinus syndrome 4 4 KCNJ5 (3), PITX2 (2), SCN5A (7), TTN (2) 0.10256 0.22222 1.369e-8 1.089e-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 1.089e-7 3 Focal epilepsy Progressive myoclonic epilepsy 3 3 DEPDC5 (3), NPRL2 (4), NPRL3 (4) 0.11538 0.75000 1.329e-8 1.059e-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 1.018e-7 1 Cleft lip Lacrimoauriculodentodigital syndrome 3 3 FGFR3 (6), FGF10 (6), FGFR2 (4) 0.07895 1.00000 1.277e-8 1.018e-7 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 1.013e-7 1 Latent autoimmune diabetes in adults Uveomeningoencephalitic syndrome 3 3 HLA-DQA1 (2), HLA-DQB1 (2), PTPN22 (2) 0.17647 0.42857 1.263e-8 1.008e-7 1 Eye neoplasms Skin hair eye pigmentation variation 3 3 HERC2 (2), OCA2 (2), SLC24A5 (2) 0.17647 0.42857 1.263e-8 1.008e-7 302 Autoimmune musculoskeletal system disorder Uveomeningoencephalitic syndrome 3 3 HLA-DQA1 (2), HLA-DRB1 (2), STAT4 (2) 0.17647 0.42857 1.263e-8 1.008e-7 1 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 1.008e-7 Leukemia Lymphoid leukemia 5 0 GRAMD1B (1), IRF4 (1), SP140 (1), MYNN (1), ACTRT3 (1) 0.07463 0.17857 1.252e-8 9.997e-8 89 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 9.850e-8 32 Arteriosclerosis Vasculitis 5 5 GATA2 (2), SERPINA1 (2), NOS3 (2), NFKBIA (2), SENP1 (2) 0.07576 0.17241 1.178e-8 9.416e-8 inherited retinal dystrophy Stargardt disease 4 4 LRAT (2), CRB1 (2), SPATA7 (2), KCNV2 (2) 0.10000 0.26667 1.177e-8 9.415e-8 Complete unilateral cleft lip Lacrimoauriculodentodigital syndrome 3 3 FGFR3 (5), FGF10 (5), FGFR2 (4) 0.08108 1.00000 1.174e-8 9.388e-8 Mucositis Neutropenia 4 4 IL1B (2), MTHFR (2), CSF2 (2), CSF3 (2) 0.06452 0.50000 1.168e-8 9.347e-8 Mainzer-saldino disease Short-rib thoracic dysplasia 3 3 IFT140 (3), IFT172 (4), WDR19 (2) 0.12000 0.75000 1.163e-8 9.313e-8 Diabetic polyneuropathy Osteomyelitis 3 1 TCF7L2 (1), HLA-DQB1 (2), FTO (1) 0.18750 0.33333 1.158e-8 9.272e-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 9.048e-8 1 Edema Venous insufficiency 4 0 ABO (1), FTO (1), SLC19A2 (1), F5 (1) 0.07273 0.44444 1.127e-8 9.032e-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 8.969e-8 Childhood absence epilepsy Dravet syndrome 3 3 GABRG2 (2), GABRA1 (2), SCN1B (3) 0.18750 0.37500 1.103e-8 8.845e-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 8.768e-8 Aplastic anemia Essential thrombocythemia 4 4 MPL (2), THPO (3), TGFB1 (2), JAK2 (4) 0.09524 0.30769 1.084e-8 8.700e-8 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 8.639e-8 129 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 8.411e-8 98 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 8.338e-8 41 Nasopharyngeal carcinoma Penile neoplasms 3 1 TP53 (3), KRAS (1), PIK3CA (1) 0.12500 0.75000 1.012e-8 8.133e-8 Gastric ulcer Gastritis 5 1 KCNF1 (1), ZNF385B (1), IL1B (2), SORCS2 (1), CDH18 (1) 0.07042 0.22727 1.003e-8 8.066e-8 Cerebral hemorrhage Coronary restenosis 4 4 ACE (2), MMP3 (2), SPP1 (2), HMOX1 (2) 0.10000 0.28571 1.002e-8 8.064e-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 7.950e-8 Beta thalassemia Polycythemia 4 4 HFE (2), EPO (3), GH1 (2), HBB (8) 0.10811 0.21053 9.777e-9 7.872e-8 Sepsis Trigeminal neuralgia 4 4 IL1B (2), TNF (2), MAPK1 (2), MAPK3 (2) 0.09302 0.33333 9.683e-9 7.799e-8 Anhydramnios autosomal dominant polycystic kidney disease 3 3 DNAJB11 (2), PKD1 (2), PKD2 (2) 0.18750 0.42857 9.478e-9 7.637e-8 74 Collagen vi-related myopathy Steroid-resistant nephrotic syndrome 3 3 COL4A5 (2), COL4A3 (2), COL4A4 (2) 0.17647 0.50000 9.389e-9 7.568e-8 Exanthema Stevens-johnson syndrome 4 4 HLA-B (3), VWF (2), C1QA (2), LBP (2) 0.04938 0.66667 9.068e-9 7.313e-8 Sarcoma Synovial sarcoma 3 3 SS18 (2), SSX1 (2), SSX2 (3) 0.08824 1.00000 8.968e-9 7.235e-8 Atypical hemolytic uremic syndrome Hemolytic uremic syndrome 3 3 CFI (6), CD46 (6), CFH (6) 0.08824 1.00000 8.968e-9 7.235e-8 32 Chloracne Hemoglobin m disease 3 3 HBA1 (4), HBA2 (3), HBB (5) 0.08824 1.00000 8.968e-9 7.235e-8 24 Chloracne Unstable hemoglobin disease 3 3 HBA1 (3), HBA2 (3), HBB (5) 0.08824 1.00000 8.968e-9 7.235e-8 24 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 7.142e-8 21 Epidermolysis bullosa Weber-cockayne syndrome 3 3 KRT5 (7), ITGB4 (5), KRT14 (7) 0.13043 0.75000 8.737e-9 7.062e-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 7.062e-8 Beta thalassemia Digenic hemochromatosis 3 3 TFR2 (3), HFE (2), HAMP (3) 0.13043 0.75000 8.737e-9 7.062e-8 148 Blindness Stargardt disease 4 3 ABCA4 (4), LCA5 (2), RPE65 (2), RHO (1) 0.10256 0.28571 8.645e-9 6.996e-8 Hyperlipoproteinemia Hypertriglyceridemia 5 5 APOB (2), LPL (5), PPARA (2), CETP (2), APOA5 (6) 0.07813 0.17857 8.588e-9 6.952e-8 57 Papilloma Transitional cell carcinoma 4 0 PTGS2 (1), CDKN1A (1), HRAS (1), CCND1 (1) 0.09524 0.33333 8.547e-9 6.922e-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 6.845e-8 45 Autoinflammatory disease, systemic, x-linked Bloch sulzberger syndrome 2 1 G6PD (1), IKBKG (3) 0.66667 1.00000 8.436e-9 6.837e-8 12 Axenfeld anomaly Iridogoniodysgenesis 2 2 FOXC1 (3), PITX2 (3) 0.66667 1.00000 8.436e-9 6.837e-8 82 Cerebellar ataxia and hypogonadotropic hypogonadism Cerebellar ataxia-hypogonadism 2 2 PNPLA6 (2), RNF216 (5) 0.66667 1.00000 8.436e-9 6.837e-8 121 Cerebral small vessel disease Vascular leukoencephalopathy 2 2 COL4A2 (3), COL4A1 (2) 0.66667 1.00000 8.436e-9 6.837e-8 33 Cerebral small vessel disease Congenital porencephaly 2 1 COL4A2 (2), COL4A1 (1) 0.66667 1.00000 8.436e-9 6.837e-8 33 Cerebral small vessel disease Posttraumatic porencephalic cyst of brain 2 1 COL4A2 (2), COL4A1 (1) 0.66667 1.00000 8.436e-9 6.837e-8 33 Cerebrofacioarticular syndrome Van maldergem syndrome 2 2 FAT4 (6), DCHS1 (7) 0.66667 1.00000 8.436e-9 6.837e-8 Cervical dysplasia Uterine disease 2 2 MTHFR (2), POU4F1 (2) 0.66667 1.00000 8.436e-9 6.837e-8 60 Cholesterol embolism Intracranial embolism and thrombosis 2 2 PLAU (2), PLAT (2) 0.66667 1.00000 8.436e-9 6.837e-8 29 Choroidal dystrophy Choroidal sclerosis 2 2 PRPH2 (5), GUCY2D (4) 0.66667 1.00000 8.436e-9 6.837e-8 69 Congenital porencephaly Vascular leukoencephalopathy 2 2 COL4A2 (2), COL4A1 (2) 0.66667 1.00000 8.436e-9 6.837e-8 33 Congenital porencephaly Posttraumatic porencephalic cyst of brain 2 0 COL4A2 (1), COL4A1 (1) 0.66667 1.00000 8.436e-9 6.837e-8 33 Congenital reticular ichthyosiform erythroderma Epidermolytic ichthyosis 2 2 KRT1 (4), KRT10 (5) 0.66667 1.00000 8.436e-9 6.837e-8 187 Congenital reticular ichthyosiform erythroderma Epidermolytic hyperkeratosis 2 2 KRT1 (5), KRT10 (5) 0.66667 1.00000 8.436e-9 6.837e-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 6.837e-8 Deafness enamel hypoplasia nail defects Deafness-enamel hypoplasia-nail defects syndrome 2 2 PEX6 (3), PEX1 (3) 0.66667 1.00000 8.436e-9 6.837e-8 141 Deafness with congenital onychodystrophy Doors syndrome 2 2 TBC1D24 (4), ATP6V1B2 (5) 0.66667 1.00000 8.436e-9 6.837e-8 105 Deafness-infertility syndrome Deafness, sensorineural, and male infertility 2 2 STRC (5), CATSPER2 (5) 0.66667 1.00000 8.436e-9 6.837e-8 Dejerine-lichtheim phenomenon Postictal aphasia 2 0 PLAT (1), L1CAM (1) 0.66667 1.00000 8.436e-9 6.837e-8 29 Dejerine-lichtheim phenomenon Syntactic aphasia 2 0 PLAT (1), L1CAM (1) 0.66667 1.00000 8.436e-9 6.837e-8 29 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 6.837e-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 6.837e-8 Commisural aphasia Postictal aphasia 2 0 PLAT (1), L1CAM (1) 0.66667 1.00000 8.436e-9 6.837e-8 29 Commisural aphasia Dejerine-lichtheim phenomenon 2 0 PLAT (1), L1CAM (1) 0.66667 1.00000 8.436e-9 6.837e-8 29 Commisural aphasia Syntactic aphasia 2 0 PLAT (1), L1CAM (1) 0.66667 1.00000 8.436e-9 6.837e-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 6.837e-8 290 Cone monochromatism X-linked cone dysfunction syndrome with myopia 2 2 OPN1LW (3), OPN1MW (3) 0.66667 1.00000 8.436e-9 6.837e-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 6.837e-8 385 Congenital asplenia Splenic hypoplasia 2 2 NKX2-5 (2), RPSA (3) 0.66667 1.00000 8.436e-9 6.837e-8 166 Congenital cerebral aneurysm Congenital malformation of cerebral vessels 2 0 PDCD10 (1), CCM2 (1) 0.66667 1.00000 8.436e-9 6.837e-8 249 Congenital erythropoietic porphyria Cutaneous porphyria 2 2 GATA1 (2), UROS (4) 0.66667 1.00000 8.436e-9 6.837e-8 132 Congenital factor xiii deficiency Factor xiii deficiency 2 2 F13A1 (8), F13B (7) 0.66667 1.00000 8.436e-9 6.837e-8 354 Congenital hypoplastic anemia Hypoplastic anemia 2 2 CAD (2), UMPS (2) 0.66667 1.00000 8.436e-9 6.837e-8 347 Boichis syndrome Senior-boichis syndrome 2 2 TMEM67 (3), DCDC2 (3) 0.66667 1.00000 8.436e-9 6.837e-8 315 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 6.837e-8 17p11.2 microduplication syndrome Potocki-lupski syndrome 2 2 FLCN (4), RAI1 (5) 0.66667 1.00000 8.436e-9 6.837e-8 285 Amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 2 2 MPL (7), THPO (6) 0.66667 1.00000 8.436e-9 6.837e-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 6.837e-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 6.837e-8 12 Aniridia-cerebellar ataxia-intellectual disability syndrome Gillespie syndrome 2 2 ITPR1 (6), PAX6 (3) 0.66667 1.00000 8.436e-9 6.837e-8 Annular epidermolytic ichthyosis Epidermolytic ichthyosis 2 2 KRT1 (3), KRT10 (4) 0.66667 1.00000 8.436e-9 6.837e-8 187 Annular epidermolytic ichthyosis Congenital reticular ichthyosiform erythroderma 2 2 KRT1 (3), KRT10 (5) 0.66667 1.00000 8.436e-9 6.837e-8 187 Annular epidermolytic ichthyosis Epidermolytic hyperkeratosis 2 2 KRT1 (5), KRT10 (6) 0.66667 1.00000 8.436e-9 6.837e-8 187 Anosmia Congenital anosmia 2 2 CNGA2 (2), TENM1 (2) 0.66667 1.00000 8.436e-9 6.837e-8 Aphasia Postictal aphasia 2 2 PLAT (2), L1CAM (2) 0.66667 1.00000 8.436e-9 6.837e-8 29 Aphasia Commisural aphasia 2 2 PLAT (2), L1CAM (2) 0.66667 1.00000 8.436e-9 6.837e-8 29 Aphasia Dejerine-lichtheim phenomenon 2 2 PLAT (2), L1CAM (2) 0.66667 1.00000 8.436e-9 6.837e-8 29 Aphasia Syntactic aphasia 2 2 PLAT (2), L1CAM (2) 0.66667 1.00000 8.436e-9 6.837e-8 29 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 6.837e-8 48 Postictal aphasia Syntactic aphasia 2 0 PLAT (1), L1CAM (1) 0.66667 1.00000 8.436e-9 6.837e-8 29 Posttraumatic porencephalic cyst of brain Vascular leukoencephalopathy 2 2 COL4A2 (2), COL4A1 (2) 0.66667 1.00000 8.436e-9 6.837e-8 33 Ochoa syndrome Urofacial syndrome 2 2 HPSE2 (6), LRIG2 (6) 0.66667 1.00000 8.436e-9 6.837e-8 Keratosis follicularis spinulosa decalvans, x-linked Olmsted syndrome, x-linked 2 1 MBTPS2 (6), YY2 (1) 0.66667 1.00000 8.436e-9 6.837e-8 346 Malignant peripheral nerve sheath tumor Malignant triton tumor 2 0 SH3PXD2A (1), HTRA1 (1) 0.66667 1.00000 8.436e-9 6.837e-8 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 6.837e-8 Mitral valve disease Rheumatic disease of mitral valve 2 0 ACE (1), MTHFR (1) 0.66667 1.00000 8.436e-9 6.837e-8 60 Mitral valve disease Rheumatic mitral regurgitation 2 0 ACE (1), MTHFR (1) 0.66667 1.00000 8.436e-9 6.837e-8 60 Hemolytic disease of fetus and newborn Rh isoimmunization 2 1 RHD (2), RSRP1 (1) 0.66667 1.00000 8.436e-9 6.837e-8 306 Epidermolytic hyperkeratosis Epidermolytic ichthyosis 2 2 KRT1 (5), KRT10 (6) 0.66667 1.00000 8.436e-9 6.837e-8 187 erythrocytosis, familial, 7 methemoglobinemia, alpha type 2 0 HBA1 (1), HBA2 (1) 0.66667 1.00000 8.436e-9 6.837e-8 24 Erythroid hypoplasia Ovarian agenesis 2 0 DIPK1A (1), RPL5 (1) 0.66667 1.00000 8.436e-9 6.837e-8 240 Familial ventricular tachycardia Ventricular tachycardia 2 1 GNAI2 (4), ABCA5 (1) 0.66667 1.00000 8.436e-9 6.837e-8 Glanzmann thrombasthenia platelet-type bleeding disorder 16 2 2 ITGB3 (8), ITGA2B (8) 0.66667 1.00000 8.436e-9 6.837e-8 67 Rheumatic disease of mitral valve Rheumatic mitral regurgitation 2 0 ACE (1), MTHFR (1) 0.66667 1.00000 8.436e-9 6.837e-8 60 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 6.675e-8 262 Hereditary hemorrhagic telangiectasia Pulmonary hypertension 4 4 SMAD4 (3), ENG (7), GDF2 (7), ACVRL1 (7) 0.06154 0.57143 7.732e-9 6.428e-8 Giant cell arteritis Graft-versus-host disease 4 3 IFNG (2), IL17A (2), PTPN22 (2), FCGR3A (1) 0.11111 0.22222 7.726e-9 6.426e-8 Cowden disease Paraganglioma 3 3 SDHB (5), SDHD (4), SDHC (5) 0.20000 0.37500 7.721e-9 6.424e-8 78 Cowden disease Pheochromocytoma/paraganglioma syndrome 3 3 SDHB (6), SDHD (5), SDHC (5) 0.20000 0.37500 7.721e-9 6.424e-8 78 Antiphospholipid syndrome Autoimmune polyendocrine syndrome 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.13636 0.75000 7.489e-9 6.237e-8 1 Antiphospholipid syndrome Oropharyngeal neoplasms 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.13636 0.75000 7.489e-9 6.237e-8 1 46,xx sex reversal 46,xy gonadal dysgenesis 3 3 NR5A1 (2), SOX9 (2), SRY (2) 0.16667 0.60000 7.470e-9 6.226e-8 Arrhythmogenic right ventricular dysplasia Paroxysmal familial ventricular fibrillation 3 1 DSP (1), RYR2 (1), SCN5A (2) 0.16667 0.60000 7.470e-9 6.226e-8 3 Cerebral saccular aneurysm Intracranial aneurysm 3 3 THSD1 (2), ENG (2), ANGPTL6 (3) 0.16667 0.60000 7.470e-9 6.226e-8 350 Disruptive impulse-control and conduct disorder Dyskinesia, drug-induced 3 3 DRD2 (2), DRD3 (2), FOSB (2) 0.16667 0.60000 7.470e-9 6.226e-8 118 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 6.221e-8 35 Diabetic cardiomyopathy Hypoglycemia 4 3 INS (2), TNF (2), INS-IGF2 (1), AGTR2 (2) 0.10526 0.28571 7.414e-9 6.191e-8 Selective iga deficiency disease Selective immunoglobulin a deficiency 3 3 IFIH1 (2), CLEC16A (2), AHI1 (2) 0.09375 1.00000 7.389e-9 6.172e-8 369 Hypotrichosis simplex Woolly hair 3 3 KRT74 (6), LIPH (3), LPAR6 (4) 0.18750 0.50000 7.223e-9 6.039e-8 Intestinal obstruction Visceral neuropathy 3 3 ERBB3 (4), ACTG2 (2), TYMP (2) 0.18750 0.50000 7.223e-9 6.039e-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 6.039e-8 1 Congenital cystic eyeball Nanophthalmos 3 3 PRSS56 (2), RAX (2), ALDH1A3 (2) 0.18750 0.50000 7.223e-9 6.039e-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 6.039e-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 6.039e-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 6.039e-8 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 5.976e-8 Absence epilepsy Childhood absence epilepsy 3 3 CACNA1H (5), GABRB3 (5), JRK (2) 0.20000 0.42857 6.894e-9 5.780e-8 227 Bone resorption Osteolysis 3 0 PTHLH (1), TNFRSF11B (1), TNFSF11 (1) 0.20000 0.42857 6.894e-9 5.780e-8 259 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 5.511e-8 26 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 5.450e-8 45 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 5.367e-8 Hyperparathyroidism Parathyroid disease 3 0 TMEM14B (1), C1orf185 (1), MAFB (1) 0.14286 0.75000 6.366e-9 5.348e-8 Nephrosclerosis Urethral obstruction 4 4 TGFB1 (2), ACTA2 (2), COL3A1 (2), HIPK2 (2) 0.10811 0.28571 6.319e-9 5.310e-8 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 5.293e-8 58 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 5.176e-8 125 Brachydactyly Chondrodysplasia 4 3 BMPR1B (7), GDF5 (7), CHST11 (1), PTH1R (5) 0.11429 0.23529 6.014e-9 5.060e-8 Arterial tortuosity syndrome Congenital contractural arachnodactyly 3 3 SLC2A10 (6), EFEMP2 (2), EMILIN1 (6) 0.10000 1.00000 6.006e-9 5.056e-8 Cerebral hemorrhage Hematoma 3 0 S100B (1), PLAT (1), F7 (1) 0.10000 1.00000 6.006e-9 5.056e-8 Mitochondrial dna depletion syndrome Mitochondrial hepatopathy 3 2 POLG (5), TWNK (5), POLGARF (1) 0.10000 1.00000 6.006e-9 5.056e-8 181 Nausea Neutropenia 4 3 TNF (2), IFNA2 (1), TNFRSF10A (2), ABCB1 (2) 0.06557 0.57143 5.856e-9 4.935e-8 Corneal disease Eye disease 5 0 COL5A1 (1), TCF4 (1), RXRA (1), COL24A1 (1), LAMB1 (1) 0.04902 0.41667 5.830e-9 4.916e-8 Posterior subcapsular cataract Sutural cataract 3 3 CRYBB2 (2), MIP (3), CRYBA1 (3) 0.20000 0.50000 5.418e-9 4.570e-8 51 Collagen vi-related myopathy Hematuria 3 3 COL4A5 (2), COL4A3 (4), COL4A4 (5) 0.20000 0.50000 5.418e-9 4.570e-8 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 4.570e-8 21 Hemangiosarcoma Penile neoplasms 3 0 TP53 (1), KRAS (1), HRAS (1) 0.15000 0.75000 5.361e-9 4.528e-8 Cecal neoplasms Hemangiosarcoma 3 0 CTNNB1 (1), KRAS (1), CCND1 (1) 0.15000 0.75000 5.361e-9 4.528e-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 4.528e-8 1 Autoimmune polyendocrine syndrome Chorea 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.15000 0.75000 5.361e-9 4.528e-8 1 Chorea Oropharyngeal neoplasms 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.15000 0.75000 5.361e-9 4.528e-8 1 Anterior polar cataract Nuclear cataract 3 3 CRYAA (2), CRYBB3 (2), CRYBA2 (2) 0.15000 0.75000 5.361e-9 4.528e-8 51 Constitutional mismatch repair deficiency Rhabdomyosarcoma 4 4 MSH2 (7), MSH6 (7), PMS2 (7), MLH1 (6) 0.10811 0.30769 5.302e-9 4.488e-8 39 Dyslipidemias Hepatomegaly 5 5 LDLR (2), PPARA (2), NR5A2 (2), SLC29A3 (4), LEPR (2) 0.06944 0.27778 5.246e-9 4.443e-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 4.443e-8 Hyperammonemia Urea cycle disorder 3 3 CPS1 (3), NAGS (6), OTC (3) 0.21429 0.37500 5.149e-9 4.364e-8 202 Congenital myasthenic syndrome Fetal akinesia deformation sequence 4 4 RAPSN (6), MUSK (5), SLC18A3 (4), DOK7 (8) 0.10526 0.33333 4.969e-9 4.214e-8 5 Cowden disease hereditary pheochromocytoma-paraganglioma 3 3 SDHB (3), SDHD (3), SDHC (3) 0.21429 0.42857 4.827e-9 4.095e-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 4.095e-8 3 Congenital arteriovenous malformation Epidermal nevus 3 2 HRAS (3), PIK3CA (3), LRRC56 (1) 0.21429 0.42857 4.827e-9 4.095e-8 17 Mycosis fungoides Sezary syndrome 3 1 CD28 (1), CTLA4 (1), TNFRSF1B (2) 0.10714 1.00000 4.808e-9 4.083e-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 4.070e-8 Autosomal recessive ataxia Zellweger spectrum disorder 3 3 PEX10 (4), PEX16 (3), PEX2 (3) 0.18750 0.60000 4.697e-9 3.992e-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 3.992e-8 Bronchiectasis Liddle syndrome 3 3 SCNN1A (6), SCNN1B (6), SCNN1G (8) 0.15789 0.75000 4.468e-9 3.801e-8 70 Cortical dysplasia with other brain malformations Tubulinopathy 3 3 TUBB2A (5), TUBB3 (4), TUBB2B (5) 0.15789 0.75000 4.468e-9 3.801e-8 144 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 3.755e-8 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 3.700e-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 3.700e-8 1 Congenital communicating hydrocephalus Hydrocephalus 3 3 MPDZ (2), WDR81 (2), TRIM71 (2) 0.11111 1.00000 4.274e-9 3.643e-8 298 Mitochondrial myopathy Polymyositis 4 4 IL1A (2), IL1B (2), TNF (2), IL6 (2) 0.11765 0.26667 4.221e-9 3.599e-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 3.558e-8 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 3.472e-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 3.306e-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 3.291e-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 3.268e-8 Bilateral perisylvian polymicrogyria Polymicrogyria 3 3 PI4KA (3), ADGRG1 (4), SRPX2 (2) 0.11538 1.00000 3.781e-9 3.232e-8 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 3.213e-8 Narcolepsy Pemphigus vulgaris 4 3 HLA-DQA1 (2), HLA-DQB3 (1), HLA-DRB1 (4), HLA-DQB1 (4) 0.07273 0.57143 3.708e-9 3.173e-8 1 Basal cell nevus syndrome Microform holoprosencephaly 3 3 GLI2 (3), PTCH1 (5), SUFU (5) 0.16667 0.75000 3.680e-9 3.149e-8 Congenital fibrosis of extraocular muscles Tubulinopathy 3 3 TUBB3 (4), TUBB2B (4), TUBA1A (3) 0.16667 0.75000 3.680e-9 3.149e-8 144 Methylmalonic acidemia Vitamin b deficiency 4 4 CD320 (7), MMAA (8), ABCD4 (7), MMUT (8) 0.11111 0.33333 3.675e-9 3.148e-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 3.136e-8 89 Berylliosis Uveitis 4 4 HLA-DRB1 (2), TNF (2), IL6 (2), TGFB1 (2) 0.10000 0.40000 3.637e-9 3.118e-8 Delirium Hyperkinesia 4 4 DRD2 (2), DRD3 (2), SLC6A3 (2), TH (2) 0.10000 0.40000 3.637e-9 3.118e-8 Central vertigo Vestibular disease 3 0 OTOGL (1), LYAR (1), TMEM128 (1) 0.20000 0.60000 3.613e-9 3.100e-8 Peripheral vertigo Vestibular disease 3 0 OTOGL (1), LYAR (1), TMEM128 (1) 0.20000 0.60000 3.613e-9 3.100e-8 Ap-4 deficiency syndrome Spastic paraplegia 4 4 AP4M1 (4), AP4B1 (5), AP4E1 (5), AP4S1 (5) 0.03306 1.00000 3.508e-9 3.013e-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 3.013e-8 Progressive myoclonic epilepsy Unverricht-lundborg syndrome 3 3 SCARB2 (6), PRICKLE1 (7), CSTB (6) 0.12000 1.00000 3.327e-9 2.859e-8 339 Atrial standstill Hereditary atrial fibrillation 3 3 NPPA (5), SCN5A (3), GJA5 (5) 0.12000 1.00000 3.327e-9 2.859e-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 2.856e-8 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 2.821e-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 2.821e-8 complex neurodevelopmental disorder Houge janssens syndrome 4 4 PPP2CA (5), PPP2R5C (2), PPP2R1A (5), PPP2R5D (3) 0.03361 1.00000 3.277e-9 2.821e-8 Carney complex Paraganglioma 3 3 SDHB (4), SDHA (2), SDHC (4) 0.23077 0.42857 3.219e-9 2.773e-8 78 Carney complex Pheochromocytoma/paraganglioma syndrome 3 3 SDHB (6), SDHA (6), SDHC (4) 0.23077 0.42857 3.219e-9 2.773e-8 78 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 2.769e-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 2.713e-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 2.713e-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 2.713e-8 Diabetic angiopathies Uveitis 5 3 HLA-DRB1 (1), SERPINF1 (2), SOD2 (2), TNF (1), ALB (2) 0.08772 0.17857 3.125e-9 2.699e-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 2.699e-8 Erythematosquamous dermatosis Rosacea 4 0 HERC2 (1), IRF4 (1), MC1R (1), SLC45A2 (1) 0.12121 0.28571 3.098e-9 2.678e-8 Hemochromatosis Iron metabolism disorder 4 4 BMP2 (3), CP (3), HFE (6), FTH1 (6) 0.12121 0.28571 3.098e-9 2.678e-8 148 Atrioventricular block Sick sinus syndrome 4 2 LMNA (3), TTN (2), SCN10A (1), CCDC141 (1) 0.12500 0.23529 3.081e-9 2.665e-8 3 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 2.531e-8 Bouillaud’s disease Bullous pemphigoid 3 3 HLA-DQA1 (2), HLA-DRB1 (3), HLA-DQB1 (3) 0.12500 1.00000 2.911e-9 2.520e-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 2.520e-8 1 Leukemia Myelodysplastic syndrome 6 2 IRF4 (1), JAK2 (2), DNMT3A (2), CFLAR (1), SPHK1 (1), SMPD3 (1) 0.07143 0.13953 2.843e-9 2.464e-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 2.443e-8 21 Intracranial aneurysm Oral submucous fibrosis 4 4 IL6 (2), MMP9 (2), MMP2 (2), COL1A2 (2) 0.12500 0.26667 2.799e-9 2.427e-8 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 2.396e-8 103 Congenital hyperinsulinism Transient neonatal diabetes mellitus 3 3 ABCC8 (6), KCNJ11 (5), GCK (3) 0.23077 0.50000 2.759e-9 2.395e-8 35 Aniridia Axenfeld-rieger syndrome 3 3 FOXC1 (6), PAX6 (4), PITX2 (6) 0.23077 0.50000 2.759e-9 2.395e-8 82 Long qt syndrome, digenic Short qt syndrome 3 2 KCNH2 (5), KCNQ1 (6), SCN5A (1) 0.21429 0.60000 2.710e-9 2.354e-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 2.307e-8 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 2.261e-8 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 2.252e-8 2 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 2.207e-8 153 Beta thalassemia Hemochromatosis 4 4 TFR2 (6), HFE (6), TNF (2), HAMP (6) 0.12500 0.28571 2.536e-9 2.207e-8 148 Cerebral arteriovenous malformations Intracranial arteriovenous malformation 3 2 IL6 (3), KRAS (3), ENG (1) 0.13043 1.00000 2.531e-9 2.205e-8 Congenital cartilage disorder Intervertebral disc disease 4 3 COL11A1 (3), TGFB1 (2), COL9A2 (1), COL9A3 (3) 0.10811 0.40000 2.438e-9 2.124e-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 2.112e-8 1 Urticaria Uveomeningoencephalitic syndrome 4 4 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2), PTPN22 (2) 0.08000 0.57143 2.423e-9 2.112e-8 Hypercholesterolemia Hypoalphalipoproteinemia 4 4 APOA1 (4), ABCA1 (5), APOB (6), PCSK9 (6) 0.08000 0.57143 2.423e-9 2.112e-8 Calcinosis Fahr's disease 4 4 PDGFRB (2), XPR1 (2), PDGFB (2), SLC20A2 (2) 0.08000 0.57143 2.423e-9 2.112e-8 Anterior segment mesenchymal dysgenesis Rieger syndrome 3 1 COL4A1 (1), FOXC1 (1), PITX2 (2) 0.18750 0.75000 2.392e-9 2.088e-8 82 Hodgkin disease Lymphoma 5 0 CSF3 (1), IFNA2 (1), PTPN1 (1), CFLAR (1), TNFSF8 (1) 0.07576 0.29412 2.388e-9 2.085e-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 2.085e-8 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 2.069e-8 Potassium deficiency Primary aldosteronism 4 0 CASZ1 (1), B3GLCT (1), LSP1 (1), RXFP2 (1) 0.12903 0.25000 2.358e-9 2.062e-8 116 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 2.020e-8 Hemorrhage Thromboembolism 4 0 PLAU (1), F2 (1), PLAT (1), F7 (1) 0.12121 0.33333 2.228e-9 1.950e-8 36 Idiopathic generalized epilepsy Myoclonic epilepsy 4 4 GABRD (5), GABRA1 (4), CACNB4 (4), CLCN2 (5) 0.12121 0.33333 2.228e-9 1.950e-8 Hereditary hemorrhagic telangiectasia Pulmonary arterial hypertension 4 4 SMAD4 (4), ENG (7), GDF2 (8), ACVRL1 (7) 0.08163 0.57143 2.213e-9 1.939e-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 1.892e-8 45 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 1.891e-8 Brain edema Cerebral hemorrhage 4 0 PLAU (1), S100B (1), PLAT (1), MMP9 (1) 0.11111 0.40000 2.114e-9 1.854e-8 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 1.789e-8 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 1.774e-8 4 Pemphigus vulgaris Uveomeningoencephalitic syndrome 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.25000 0.42857 2.012e-9 1.767e-8 1 Hereditary hemochromatosis Iron overload 3 3 TF (3), HAMP (2), SLC40A1 (2) 0.25000 0.42857 2.012e-9 1.767e-8 Carney complex hereditary pheochromocytoma-paraganglioma 3 3 SDHB (3), SDHA (3), SDHC (3) 0.25000 0.42857 2.012e-9 1.767e-8 78 Benign hereditary chorea Pemphigus vulgaris 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.25000 0.42857 2.012e-9 1.767e-8 1 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 1.761e-8 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 1.754e-8 Hypochromic microcytic anemia Iron deficiency anemia 3 2 TF (2), TNF (1), SLC11A2 (3) 0.23077 0.60000 1.971e-9 1.735e-8 245 Cornelia de lange syndrome Wiedemann-steiner syndrome 3 3 KMT2A (6), SMC1A (4), SMC3 (6) 0.23077 0.60000 1.971e-9 1.735e-8 301 46,xx sex reversal Swyer syndrome 3 3 NR5A1 (2), SOX9 (2), SRY (3) 0.23077 0.60000 1.971e-9 1.735e-8 Autoinflammatory syndrome Hemophagocytic lymphohistiocytosis 4 4 PRF1 (7), UNC13D (7), STX11 (6), STXBP2 (7) 0.09524 0.50000 1.961e-9 1.729e-8 96 Alport syndrome Steroid-resistant nephrotic syndrome 3 3 COL4A5 (3), COL4A3 (6), COL4A4 (6) 0.20000 0.75000 1.880e-9 1.658e-8 Heimler syndrome Zellweger spectrum disorder 3 2 PEX6 (5), PEX1 (4), PEX26 (1) 0.20000 0.75000 1.880e-9 1.658e-8 141 Hypercalcemia Idiopathic infantile hypercalcemia 3 3 KL (2), SLC34A1 (6), CYP24A1 (5) 0.20000 0.75000 1.880e-9 1.658e-8 259 Hypercalcemia Kidney and ureter calculus 3 3 CASR (2), SLC34A1 (2), CYP24A1 (2) 0.20000 0.75000 1.880e-9 1.658e-8 259 Hyperhomocysteinemia Neural tube defects, folate-sensitive 3 3 MTHFR (3), MTRR (3), MTR (2) 0.20000 0.75000 1.880e-9 1.658e-8 155 Liddle syndrome Pseudohypoparathyroidism 3 3 SCNN1A (7), SCNN1B (7), SCNN1G (8) 0.20000 0.75000 1.880e-9 1.658e-8 70 Alport syndrome, x-linked Steroid-resistant nephrotic syndrome 3 3 COL4A5 (4), COL4A3 (2), COL4A4 (2) 0.20000 0.75000 1.880e-9 1.658e-8 Antiphospholipid syndrome Bouillaud’s disease 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.14286 1.00000 1.874e-9 1.657e-8 1 Curling ulcer Gastric ulcer 4 2 PTGS2 (1), ABO (2), NOS2 (1), PSCA (2) 0.07143 0.66667 1.866e-9 1.652e-8 Myeloproliferative disorder Thrombocythemia 4 4 SH2B3 (4), MPL (6), JAK2 (6), CALR (4) 0.07143 0.66667 1.866e-9 1.652e-8 98 Myeloproliferative disorder Thrombocytosis 4 4 SH2B3 (3), MPL (4), JAK2 (4), CALR (2) 0.07143 0.66667 1.866e-9 1.652e-8 98 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 1.646e-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 1.631e-8 Cold paroxysmal hemoglobinuria Pemphigus 3 3 HLA-DQA1 (2), C3 (2), HLA-DQB1 (2) 0.25000 0.50000 1.840e-9 1.631e-8 Hemoglobinuria paroxysmal Pemphigus 3 3 HLA-DQA1 (2), C3 (2), HLA-DQB1 (2) 0.25000 0.50000 1.840e-9 1.631e-8 Paroxysmal nocturnal hemoglobinuria Pemphigus 3 3 HLA-DQA1 (2), C3 (2), HLA-DQB1 (2) 0.25000 0.50000 1.840e-9 1.631e-8 Gonadal dysgenesis Swyer syndrome 4 2 NR5A1 (2), SRY (2), DHH (1), DHX37 (1) 0.11429 0.40000 1.823e-9 1.618e-8 149 Congestive ophthalmopathy Dermatologic disorder 5 0 SCD (1), IL10 (1), TNF (1), PTGS2 (1), IL1RN (1) 0.06494 0.38462 1.811e-9 1.608e-8 Dermatologic disorder Myopathic ophthalmopathy 5 0 SCD (1), IL10 (1), TNF (1), PTGS2 (1), IL1RN (1) 0.06494 0.38462 1.811e-9 1.608e-8 Aplastic anemia Dyskeratosis congenita 5 3 ACD (6), TERT (8), ZCCHC8 (1), POT1 (1), DKC1 (7) 0.09259 0.19231 1.782e-9 1.584e-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 1.584e-8 58 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 1.580e-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 1.580e-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 1.580e-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 1.565e-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 1.554e-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 1.554e-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 1.553e-8 Dyskinesia, drug-induced Movement disorder 5 5 PDYN (2), DRD1 (2), DRD2 (2), DRD3 (2), FOSB (2) 0.07353 0.33333 1.696e-9 1.513e-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 1.485e-8 1 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 1.485e-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 1.478e-8 Dominantly inherited sensory neuropathy Hereditary sensory and autonomic neuropathy 3 3 DST (7), DNMT1 (3), SCN11A (6) 0.15000 1.00000 1.593e-9 1.424e-8 Pericarditis Pericardium disorder 3 0 LRRC3B (1), NEK10 (1), PTPRQ (1) 0.15000 1.00000 1.593e-9 1.424e-8 279 Amyloid neuropathy Amyloidosis 3 3 APP (2), PSEN1 (2), TTR (6) 0.15000 1.00000 1.593e-9 1.424e-8 Hemangiosarcoma Thyroid neoplasms 5 0 TP53 (1), CTNNB1 (1), KRAS (1), HRAS (1), CCND1 (1) 0.08333 0.27778 1.583e-9 1.417e-8 4 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 1.402e-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 1.390e-8 Congenital pes cavus Dysarthria 4 0 HARS1 (1), SMC1A (1), BIVM-ERCC5 (1), ERCC5 (1) 0.12903 0.33333 1.535e-9 1.376e-8 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 1.349e-8 180 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 1.349e-8 58 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 1.337e-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 1.318e-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 1.318e-8 Bladder calculus Hypertensive nephropathy 5 0 PRKAG2 (1), HBB (1), PDILT (1), OVOL1 (1), SLC22A2 (1) 0.08929 0.25000 1.376e-9 1.236e-8 Bouillaud’s disease Chorea 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.15789 1.00000 1.341e-9 1.206e-8 1 Bouillaud’s disease Henoch schoenlein purpura 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.15789 1.00000 1.341e-9 1.206e-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 1.206e-8 1 Melas syndrome Myoclonic epilepsy with ragged red fibers 3 3 IL1A (2), IL1B (2), ND5 (2) 0.15789 1.00000 1.341e-9 1.206e-8 26 Cap myopathy Nemaline myopathy 3 3 MYPN (3), TPM2 (4), TPM3 (4) 0.15789 1.00000 1.341e-9 1.206e-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 1.181e-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 1.173e-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 1.173e-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 1.173e-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 1.173e-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 1.173e-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 1.166e-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 1.135e-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 1.105e-8 Hyperplasia Ventricular remodeling 5 0 TCF7L2 (1), LEP (1), NFE2L2 (1), AKT1 (1), TGFB1 (1) 0.09615 0.20000 1.217e-9 1.101e-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 1.074e-8 4 C1 esterase inhibitor deficiency Terminal complement component deficiency 3 0 C8B (1), C9 (1), C8A (1) 0.27273 0.50000 1.150e-9 1.041e-8 Diabetic nephropathy type 1 Uveomeningoencephalitic syndrome 3 3 HLA-DQA1 (2), HLA-DQB1 (2), PTPN22 (2) 0.27273 0.50000 1.150e-9 1.041e-8 1 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 1.019e-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 1.001e-8 Sideroblastic anemia X-linked sideroblastic anemia 3 3 ABCB7 (5), ALAS2 (6), SLC25A38 (5) 0.23077 0.75000 1.084e-9 9.833e-9 Alport syndrome Hematuria 3 3 COL4A5 (3), COL4A3 (7), COL4A4 (8) 0.23077 0.75000 1.084e-9 9.833e-9 91 Alport syndrome, x-linked Hematuria 3 3 COL4A5 (4), COL4A3 (4), COL4A4 (5) 0.23077 0.75000 1.084e-9 9.833e-9 91 Aplastic anemia Hoyeraal hreidarsson syndrome 4 3 ACD (3), TERT (6), POT1 (1), DKC1 (4) 0.10811 0.50000 1.069e-9 9.704e-9 77 Catalepsy Dyskinesia, drug-induced 4 4 DRD1 (2), DRD2 (2), CCK (2), TH (2) 0.14286 0.26667 1.054e-9 9.571e-9 Calcinosis Cervical disc degenerative disorder 4 4 IL1B (2), TNF (2), TGFB1 (2), COL1A1 (2) 0.08163 0.66667 1.041e-9 9.458e-9 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 9.418e-9 153 Cachexia Oral submucous fibrosis 4 3 TNF (2), IL6 (2), PTGS2 (2), CXCL8 (1) 0.13793 0.33333 1.017e-9 9.254e-9 43 Angina pectoris Oral submucous fibrosis 4 3 TNF (2), MMP1 (2), MMP9 (2), CXCL8 (1) 0.13793 0.33333 1.017e-9 9.254e-9 43 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 8.967e-9 1 Secondary polycythemia Thalassemia 3 3 HBA1 (2), HBA2 (2), HBB (2) 0.27273 0.60000 9.201e-10 8.379e-9 24 Hoyeraal hreidarsson syndrome Telomere syndrome 3 3 RTEL1 (2), TERT (4), PARN (2) 0.27273 0.60000 9.201e-10 8.379e-9 77 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 8.379e-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 8.379e-9 Aneuploidy Chromosomal instability 3 0 CKAP5 (1), AURKA (1), KIF11 (1) 0.27273 0.60000 9.201e-10 8.379e-9 Gastrointestinal stromal tumor Microform holoprosencephaly 5 5 CDON (3), GLI2 (3), PTCH1 (3), SUFU (3), DISP1 (3) 0.08475 0.31250 9.065e-10 8.273e-9 110 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 8.170e-9 63 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 8.030e-9 1 Arteriosclerosis Hyperlipoproteinemia 6 5 ABCG8 (1), APOB (2), APOE (5), LDLR (2), NOS3 (2), PON1 (2) 0.07895 0.15000 8.733e-10 7.981e-9 57 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 7.932e-9 Cone dystrophy Nystagmus 6 3 CNGB3 (3), GUCY2D (1), RPGRIP1 (2), NMNAT1 (1), KCNV2 (3), RHO (1) 0.07895 0.15789 8.519e-10 7.792e-9 7 Cerebellar atrophy Polyneuropathy 5 1 DYNC1H1 (1), PNPLA6 (2), SMC1A (1), BIVM-ERCC5 (1), ERCC5 (1) 0.10000 0.20833 8.189e-10 7.493e-9 241 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 7.421e-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 7.390e-9 50 Hepatic insufficiency Urethral obstruction 4 0 NOS3 (1), RELA (1), TGFB1 (1), NOS2 (1) 0.12500 0.44444 7.999e-10 7.329e-9 80 Bradycardia Hyperproinsulinemia 4 4 PRL (2), DRD2 (2), GNRH1 (2), LHB (2) 0.12500 0.44444 7.999e-10 7.329e-9 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 7.294e-9 11 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 7.255e-9 3 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 7.227e-9 1 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 7.183e-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 7.126e-9 39 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 7.100e-9 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 7.033e-9 Dyslipidemias Hyperlipoproteinemia 5 5 LDLR (2), LPL (4), PPARA (2), LEPR (2), NEIL1 (2) 0.09259 0.27778 7.630e-10 7.019e-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 7.019e-9 1 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 6.970e-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 6.946e-9 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 6.839e-9 Bronchiectasis Pseudohypoparathyroidism 4 3 LTBR (1), SCNN1A (7), SCNN1B (7), SCNN1G (6) 0.14815 0.30769 7.224e-10 6.660e-9 70 Pancreatic diseases Proteinuria 4 0 SPP1 (1), POMC (1), ALB (1), LEPR (1) 0.08889 0.66667 7.142e-10 6.588e-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 6.343e-9 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 6.218e-9 Cerebrooculofacioskeletal syndrome Cockayne syndrome 3 2 ERCC1 (5), ERCC6 (7), PGBD3 (1) 0.30000 0.50000 6.572e-10 6.070e-9 352 Bethlem myopathy Collagen vi-related myopathy 3 3 COL6A3 (7), COL6A1 (7), COL6A2 (7) 0.30000 0.50000 6.572e-10 6.070e-9 307 Endometrial hyperplasia Nasopharyngeal carcinoma 4 4 PTEN (2), TP53 (4), KRAS (2), CDKN2A (2) 0.13793 0.40000 6.524e-10 6.031e-9 45 Deep vein thrombosis Venous thrombosis 4 4 PLAT (2), SERPINC1 (2), PLG (2), PROC (2) 0.13793 0.40000 6.524e-10 6.031e-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 5.994e-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 5.966e-9 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 5.936e-9 Dermatomyositis Polymyositis 5 3 IL1A (2), IL1B (2), TNF (2), STAT4 (1), PMS1 (1) 0.10204 0.22727 6.060e-10 5.614e-9 22 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 5.608e-9 Congenital communicating hydrocephalus Congenital hydrocephalus 3 3 MPDZ (6), WDR81 (4), TRIM71 (5) 0.20000 1.00000 5.983e-10 5.548e-9 298 Congenital microcephaly Lissencephaly 6 0 FOXG1 (1), CASK (1), ASPM (1), CPAP (1), TUBA3E (1), MZT2B (1) 0.07895 0.19355 5.950e-10 5.519e-9 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 5.479e-9 63 Oral submucous fibrosis Sepsis 5 5 TNF (2), IL6 (2), TGFB1 (2), IFNG (2), MMP9 (2) 0.10000 0.25000 5.845e-10 5.427e-9 43 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 5.414e-9 46 Developmental delay Melas syndrome 5 3 ND2 (1), COX3 (2), ND5 (2), ND4 (1), CYTB (2) 0.09615 0.27778 5.829e-10 5.414e-9 26 Cortical development malformation Polymicrogyria 5 4 DHX37 (1), DYNC1H1 (2), AKT3 (2), WDR62 (2), TUBB2B (3) 0.10417 0.20000 5.810e-10 5.401e-9 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 5.355e-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 5.293e-9 3 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 5.193e-9 Aplastic anemia Beta thalassemia 5 2 GSTT1 (1), TNF (1), HLA-DQB1 (1), CAD (2), UMPS (2) 0.10204 0.23810 5.553e-10 5.172e-9 Aniridia Wagr syndrome 3 3 WT1 (5), ELP4 (5), PAX6 (5) 0.27273 0.75000 5.521e-10 5.145e-9 Carney-stratakis syndrome Cowden disease 3 3 SDHB (4), SDHD (5), SDHC (5) 0.27273 0.75000 5.521e-10 5.145e-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 5.145e-9 Hypercalciuria Idiopathic infantile hypercalcemia 3 3 KL (2), SLC34A1 (5), CYP24A1 (5) 0.27273 0.75000 5.521e-10 5.145e-9 259 Ap-4 deficiency syndrome Intellectual disability 4 4 AP4M1 (4), AP4B1 (4), AP4E1 (4), AP4S1 (4) 0.05195 1.00000 5.480e-10 5.115e-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 5.115e-9 Polyarticular juvenile idiopathic arthritis Uveomeningoencephalitic syndrome 4 4 FAS (2), HLA-DQB1 (2), PTPN22 (2), STAT4 (3) 0.11111 0.57143 5.352e-10 5.000e-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 4.937e-9 4 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 4.914e-9 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 4.885e-9 144 Essential thrombocythemia Myeloproliferative disorder 5 5 SH2B3 (3), TP53 (3), MPL (3), JAK2 (4), CALR (3) 0.08065 0.38462 5.018e-10 4.696e-9 98 Dysarthria Spastic ataxia 6 0 CACNA1A (1), PNPLA6 (1), HARS1 (1), DNMT1 (1), SEPSECS (1), SPG7 (1) 0.06897 0.27273 4.996e-10 4.678e-9 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 4.618e-9 Polycystic liver disease Tubulointerstitial kidney disease 4 2 HNF1B (1), SEC61A1 (3), SEC63 (6), RUVBL1 (1) 0.13793 0.44444 4.742e-10 4.444e-9 97 Urethral obstruction Ventricular remodeling 5 0 AGT (1), SMAD3 (1), TGFB1 (1), NPPB (1), NPPA (1) 0.10638 0.20000 4.739e-10 4.443e-9 Atypical hemolytic uremic syndrome Macular and posterior pole degeneration 3 3 CFI (2), CD46 (3), CFH (3) 0.21429 1.00000 4.701e-10 4.410e-9 32 Erythrocytosis Polycythemia, primary familial and congenital 3 3 SH2B3 (3), EPOR (3), JAK2 (3) 0.21429 1.00000 4.701e-10 4.410e-9 Erythrocytosis Familial polycythemia 3 3 SH2B3 (3), EPOR (5), JAK2 (3) 0.21429 1.00000 4.701e-10 4.410e-9 Erythrocytosis Hemoglobin m disease 3 3 HBA1 (6), HBA2 (6), HBB (7) 0.21429 1.00000 4.701e-10 4.410e-9 24 Hyperhomocysteinemia Malnutrition 3 3 MTHFR (2), CBS (2), MTR (2) 0.21429 1.00000 4.701e-10 4.410e-9 155 Constitutional mismatch repair deficiency Turcot syndrome 3 3 APC (3), PMS2 (7), MLH1 (7) 0.21429 1.00000 4.701e-10 4.410e-9 39 Digenic alport syndrome Steroid-resistant nephrotic syndrome 3 3 COL4A5 (2), COL4A3 (2), COL4A4 (2) 0.21429 1.00000 4.701e-10 4.410e-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 4.293e-9 133 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 4.224e-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 4.190e-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 4.188e-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 4.162e-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 4.141e-9 Rosacea Sebaceous gland disease 4 0 HERC2 (1), IRF4 (1), MC1R (1), SLC45A2 (1) 0.16000 0.28571 4.257e-10 4.017e-9 Cerebral hemorrhage Venous thrombosis 5 0 PLAU (1), PLAT (1), SERPINC1 (1), KDR (1), F7 (1) 0.10638 0.22727 4.243e-10 4.006e-9 36 Aplastic anemia Oral submucous fibrosis 5 3 GSTT1 (1), TNF (2), GSTM1 (1), TGFB1 (2), IFNG (4) 0.10417 0.25000 4.237e-10 4.001e-9 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 3.917e-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 3.891e-9 366 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 3.875e-9 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 3.820e-9 58 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 3.710e-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 3.710e-9 63 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 3.678e-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 3.632e-9 11 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 3.621e-9 Primary microcephaly Seckel syndrome 5 5 CENPE (4), CDK5RAP2 (4), CEP152 (7), CEP63 (5), CPAP (7) 0.10204 0.27778 3.778e-10 3.584e-9 137 Kidney and ureter calculus Urolithiasis 4 4 CASR (2), RGS14 (2), SLC34A1 (2), CYP24A1 (2) 0.05714 1.00000 3.692e-10 3.504e-9 Autoimmune polyendocrine syndrome Pemphigus 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.30000 0.75000 3.681e-10 3.495e-9 1 Oropharyngeal neoplasms Pemphigus 3 3 HLA-DQA1 (3), HLA-DRB1 (3), HLA-DQB1 (3) 0.30000 0.75000 3.681e-10 3.495e-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 3.495e-9 Complex cortical dysplasia with other brain malformations Tubulinopathy 3 3 TUBB2A (3), TUBB3 (3), TUBB2B (5) 0.30000 0.75000 3.681e-10 3.495e-9 144 Congenital foot deformity Congenital hand deformities 3 0 TP63 (1), PTHLH (1), LMNA (1) 0.30000 0.75000 3.681e-10 3.495e-9 30 Cardiofaciocutaneous syndrome Schimmelpenning-feuerstein-mims syndrome 3 3 KRAS (8), NRAS (3), HRAS (3) 0.23077 1.00000 3.616e-10 3.442e-9 Imerslund-grasbeck syndrome Megaloblastic anemia 3 2 CUBN (7), AMN (5), CDC42BPB (1) 0.23077 1.00000 3.616e-10 3.442e-9 100 Cerebral venous sinus thrombosis Thromboembolism 3 3 PLAU (2), F5 (2), PROS1 (2) 0.23077 1.00000 3.616e-10 3.442e-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 3.429e-9 34 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 3.411e-9 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 3.364e-9 58 Cognition disorder Diabetes complications 5 5 ABCC4 (2), SLC10A2 (2), SLC51B (2), SLC51A (2), NR0B2 (2) 0.08065 0.41667 3.411e-10 3.255e-9 366 Cerebrooculofacioskeletal syndrome Xeroderma pigmentosum-cockayne syndrome 3 2 ERCC2 (6), BIVM-ERCC5 (1), ERCC5 (6) 0.33333 0.60000 3.287e-10 3.138e-9 Methemoglobinemia Thalassemia 3 3 HBA1 (5), HBA2 (2), HBB (4) 0.33333 0.60000 3.287e-10 3.138e-9 24 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 3.138e-9 Optic neuropathy Postaxial polydactyly 4 0 ND1 (1), ATP6 (1), ATP8 (1), ND4 (1) 0.14815 0.44444 3.207e-10 3.066e-9 26 Bladder cancer Urinary bladder cancer 4 4 FGFR3 (3), KRAS (2), RB1 (2), HRAS (2) 0.05970 1.00000 3.078e-10 2.944e-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 2.698e-9 4 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 2.685e-9 Anorexia Hyperkinesia 5 5 GCG (2), IL2 (2), NPY (2), CRHR1 (2), CCK (2) 0.10638 0.27778 2.766e-10 2.649e-9 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 2.641e-9 Right atrial isomerism Transposition of the great arteries 3 1 UPF1 (1), CERS1 (1), GDF1 (4) 0.25000 1.00000 2.712e-10 2.600e-9 56 Digenic alport syndrome Hematuria 3 3 COL4A5 (2), COL4A3 (5), COL4A4 (6) 0.25000 1.00000 2.712e-10 2.600e-9 91 Bullous pemphigoid Pemphigus 4 3 HLA-DQA1 (2), HLA-DRB1 (3), IL2 (1), HLA-DQB1 (3) 0.14286 0.50000 2.637e-10 2.530e-9 1 Splenic disease Splenomegaly 4 4 CYP1A2 (2), FAS (2), APC (2), AHR (2) 0.15385 0.44444 2.596e-10 2.493e-9 Exudative vitreoretinopathy Retinopathy of prematurity 4 3 PRSS23 (1), FZD4 (6), NDP (5), LRP5 (5) 0.15385 0.44444 2.596e-10 2.493e-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 2.493e-9 Congenital total cataract Posterior subcapsular cataract 4 3 CRYBB2 (3), EPHA2 (3), MIP (1), LEMD2 (3) 0.16667 0.36364 2.554e-10 2.455e-9 51 Congenital total cataract Lamellar cataract 4 4 CRYAA (3), HSF4 (3), MIP (3), CRYGB (3) 0.16667 0.36364 2.554e-10 2.455e-9 51 Mouth neoplasms Penile neoplasms 4 0 TP53 (1), KRAS (1), HRAS (1), PIK3CA (1) 0.06250 1.00000 2.544e-10 2.448e-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 2.369e-9 Mouth neoplasms Tongue neoplasms 5 0 SOD2 (1), PTGS2 (1), HSPB1 (1), HRAS (1), CRYAB (1) 0.07246 0.50000 2.419e-10 2.329e-9 Autoimmune polyendocrine syndrome Uveomeningoencephalitic syndrome 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.33333 0.75000 2.301e-10 2.217e-9 1 Oropharyngeal neoplasms Uveomeningoencephalitic syndrome 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.33333 0.75000 2.301e-10 2.217e-9 1 Oropharyngeal neoplasms Pemphigus vulgaris 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (3) 0.33333 0.75000 2.301e-10 2.217e-9 1 Epidermal nevus Penile neoplasms 3 3 KRAS (2), HRAS (3), PIK3CA (3) 0.33333 0.75000 2.301e-10 2.217e-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 2.217e-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 2.217e-9 209 Intestinal pseudo-obstruction Megacystis microcolon intestinal hypoperistalsis syndrome 3 2 MYH11 (5), NDE1 (1), ACTG2 (6) 0.33333 0.75000 2.301e-10 2.217e-9 426 Congenital glaucoma Primary congenital glaucoma 3 3 CYP1B1 (2), TEK (4), LTBP2 (3) 0.33333 0.75000 2.301e-10 2.217e-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 2.217e-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 2.217e-9 1 Benign hereditary chorea Oropharyngeal neoplasms 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.33333 0.75000 2.301e-10 2.217e-9 1 Bladder cancer Epidermal nevus 3 3 FGFR3 (4), KRAS (2), HRAS (4) 0.33333 0.75000 2.301e-10 2.217e-9 17 Carney complex Carney-stratakis syndrome 3 3 SDHB (5), SDHA (2), SDHC (5) 0.33333 0.75000 2.301e-10 2.217e-9 78 Digenic hemochromatosis Hereditary hemochromatosis 3 3 TFR2 (2), HFE (2), HAMP (2) 0.33333 0.75000 2.301e-10 2.217e-9 148 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 2.209e-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 2.203e-9 4 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 2.199e-9 Bradycardia Chiari-frommel syndrome 4 4 PRL (2), DRD2 (2), GNRH1 (2), LHB (2) 0.13333 0.57143 2.227e-10 2.163e-9 Hemolytic anemia Hereditary hemolytic anemia 5 5 GCLC (2), HBB (2), HK1 (4), GPI (5), BPGM (3) 0.08065 0.45455 2.194e-10 2.131e-9 12 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 2.122e-9 3 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 2.092e-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 2.086e-9 49 Anhedonia Memory disorders 6 6 COMT (2), HTR1A (2), DRD2 (2), SLC6A3 (2), SLC6A4 (2), SLC17A7 (2) 0.08333 0.23077 2.132e-10 2.075e-9 Polycythemia Polycythemia vera 4 3 HBA1 (2), H2BC4 (1), HBB (2), JAK2 (5) 0.16000 0.44444 2.078e-10 2.023e-9 24 Cachexia Edema 5 0 TNF (1), IL6 (1), PTGS2 (1), PTHLH (1), CXCL8 (1) 0.08772 0.41667 2.060e-10 2.007e-9 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 1.993e-9 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 1.971e-9 21 Deafness, x-linked Hearing loss with stapes fixation 3 3 GJB6 (3), GJB2 (3), POU3F4 (3) 0.27273 1.00000 1.973e-10 1.925e-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 1.925e-9 68 Bilateral perisylvian polymicrogyria Perisylvian syndrome 3 3 PI4KA (2), ADGRG1 (2), SRPX2 (2) 0.27273 1.00000 1.973e-10 1.925e-9 Brachycephaly Coronal craniosynostosis 3 0 FGFR3 (1), TCF12 (1), TWIST1 (1) 0.27273 1.00000 1.973e-10 1.925e-9 250 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 1.851e-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 1.715e-9 Hypomyelinating leukodystrophy Pelizaeus-merzbacher disease 4 4 AIMP1 (6), HSPD1 (5), GJC2 (6), MAL (4) 0.12121 0.66667 1.751e-10 1.713e-9 Hepatolenticular degeneration Oral submucous fibrosis 5 4 TNF (2), IL6 (2), CXCL8 (1), TIMP1 (2), LOX (2) 0.11628 0.25000 1.706e-10 1.669e-9 43 Congenital cartilage disorder Spondyloepiphyseal dysplasia 5 3 HSPG2 (1), COL2A1 (8), TRPV4 (3), GLB1 (1), CHST3 (6) 0.11364 0.27778 1.664e-10 1.630e-9 44 Melas syndrome Optic neuropathy 4 1 ND1 (2), ATP6 (1), ATP8 (1), ND4 (1) 0.16667 0.44444 1.641e-10 1.608e-9 26 Congenital anomaly of limb Congenital skin anomaly 4 4 TP63 (2), IRF6 (2), FGFR2 (2), CHUK (2) 0.17391 0.40000 1.626e-10 1.594e-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 1.594e-9 396 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 1.558e-9 20 Brain cancer Brain neoplasms 4 0 APOBEC3C (1), CCT6B (1), FCHO2 (1), FOXN3 (1) 0.10000 0.80000 1.574e-10 1.545e-9 Blood coagulation disorder Venous thrombosis 5 4 F2 (3), MTHFR (1), SERPINC1 (2), F5 (3), PROC (2) 0.11905 0.22727 1.526e-10 1.498e-9 36 Dysarthria Polyneuropathy 5 1 PNPLA6 (2), SPG7 (1), SMC1A (1), BIVM-ERCC5 (1), ERCC5 (1) 0.11905 0.22727 1.526e-10 1.498e-9 241 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 1.433e-9 1 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 1.391e-9 Melanocytic nevus Sebaceous gland disease 4 0 TP53 (1), TYR (1), DEF8 (1), SLC45A2 (1) 0.18182 0.36364 1.406e-10 1.383e-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 1.359e-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 1.359e-9 319 Central hypoventilation syndrome Haddad syndrome 3 3 LBX1 (3), MYO1H (3), PHOX2B (5) 0.30000 1.00000 1.381e-10 1.359e-9 331 Central hypoventilation syndrome Congenital central hypoventilation syndrome 3 3 LBX1 (4), MYO1H (5), PHOX2B (7) 0.30000 1.00000 1.381e-10 1.359e-9 331 Cone dystrophy Oguchi disease 5 1 CACNA1F (1), PDE6B (1), GUCY2D (1), RHO (1), SAG (6) 0.10417 0.35714 1.372e-10 1.353e-9 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 1.305e-9 49 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 1.303e-9 1 Budd-chiari syndrome Thrombocythemia 3 2 JAK2 (6), CALR (4), INSL6 (1) 0.37500 0.75000 1.315e-10 1.299e-9 Cold autoinflammatory syndrome Cryopyrin-associated periodic syndrome 3 3 PLCG2 (4), NLRP3 (6), NLRC4 (4) 0.37500 0.75000 1.315e-10 1.299e-9 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 1.299e-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 1.299e-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 1.299e-9 171 Congenital insensitivity to pain Congenital pain insensitivity 3 3 SCN11A (2), SCN9A (2), PRDM12 (2) 0.37500 0.75000 1.315e-10 1.299e-9 171 Alport syndrome Collagen vi-related myopathy 3 3 COL4A5 (3), COL4A3 (5), COL4A4 (5) 0.37500 0.75000 1.315e-10 1.299e-9 Alport syndrome, x-linked Collagen vi-related myopathy 3 1 COL4A5 (3), COL4A3 (1), COL4A4 (1) 0.37500 0.75000 1.315e-10 1.299e-9 Axenfeld-rieger syndrome Rieger syndrome 3 3 COL4A1 (2), FOXC1 (6), PITX2 (6) 0.37500 0.75000 1.315e-10 1.299e-9 82 Benign infantile epilepsy Benign neonatal epilepsy 3 3 KCNQ2 (4), SCN2A (3), KCNQ3 (3) 0.37500 0.75000 1.315e-10 1.299e-9 213 Collagen vi-related myopathy Ullrich congenital muscular dystrophy 3 3 COL6A3 (7), COL6A1 (7), COL6A2 (7) 0.37500 0.75000 1.315e-10 1.299e-9 307 Hydrophthalmos Primary congenital glaucoma 3 1 CYP1B1 (1), TEK (2), LTBP2 (1) 0.37500 0.75000 1.315e-10 1.299e-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 1.217e-9 Craniofacial microsomia Goldenhar syndrome 4 3 MYT1 (1), FOXI3 (4), AMIGO2 (2), SF3B2 (4) 0.18182 0.40000 1.220e-10 1.212e-9 Hemolytic anemia Spherocytosis 5 4 ANK1 (3), SPTA1 (3), SPTB (3), SLC4A1 (3), PLEKHG3 (1) 0.08197 0.50000 1.200e-10 1.193e-9 Rosacea Seborrheic dermatitis 5 0 HERC2 (1), IRF1 (1), IRF4 (1), MC1R (1), SLC45A2 (1) 0.10638 0.35714 1.192e-10 1.185e-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 1.104e-9 Anhydramnios Polycystic kidney disease 5 5 DNAJB11 (7), NPHP3 (2), PKD1 (8), PKD2 (8), PKHD1 (8) 0.09091 0.45455 1.082e-10 1.077e-9 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 1.063e-9 131 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 1.048e-9 58 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 1.034e-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 1.034e-9 8 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 1.003e-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 1.003e-9 411 Dyskinesia, drug-induced Hyperkinesia 5 5 DRD1 (2), DRD2 (2), DRD3 (2), CCK (2), TH (2) 0.11364 0.33333 9.738e-11 9.728e-10 C1q deficiency Complement pathway abnormality 3 3 C1QA (5), C1QB (5), C1QC (4) 0.33333 1.00000 9.205e-11 9.200e-10 Calcium metabolism disorders Hypocalciuric hypercalcemia 3 3 AP2S1 (5), GNA11 (6), CASR (7) 0.33333 1.00000 9.205e-11 9.200e-10 Atypical hemolytic uremic syndrome Mesangiocapillary glomerulonephritis 3 3 CFI (2), CD46 (3), CFH (3) 0.33333 1.00000 9.205e-11 9.200e-10 32 Bare lymphocyte syndrome MHC class I deficiency 3 3 TAP2 (2), TAP1 (3), TAPBP (2) 0.33333 1.00000 9.205e-11 9.200e-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 9.200e-10 284 Citrullinemia Urea cycle disorder 3 3 ASS1 (7), SLC25A15 (2), SLC25A13 (3) 0.33333 1.00000 9.205e-11 9.200e-10 Bouillaud’s disease Pemphigus 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.33333 1.00000 9.205e-11 9.200e-10 1 Hemoglobin m disease Secondary polycythemia 3 3 HBA1 (3), HBA2 (2), HBB (4) 0.33333 1.00000 9.205e-11 9.200e-10 24 Secondary polycythemia Unstable hemoglobin disease 3 3 HBA1 (4), HBA2 (4), HBB (4) 0.33333 1.00000 9.205e-11 9.200e-10 24 Liposarcoma Well-differentiated liposarcoma 3 1 HMGA2 (1), CDK4 (2), MDM2 (1) 0.33333 1.00000 9.205e-11 9.200e-10 361 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 9.172e-10 Aortic dissection Ruptured abdominal aortic aneurysm 4 3 FBN1 (1), AGT (2), SMAD3 (2), TGFBR2 (2) 0.17391 0.50000 9.122e-11 9.165e-10 64 Aortic dissection Ruptured aortic aneurysm 4 3 FBN1 (1), AGT (2), SMAD3 (2), TGFBR2 (2) 0.17391 0.50000 9.122e-11 9.165e-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 9.165e-10 64 Aortic dissection Thoracoabdominal aortic aneurysm 4 3 FBN1 (1), AGT (2), SMAD3 (2), TGFBR2 (2) 0.17391 0.50000 9.122e-11 9.165e-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 9.165e-10 1 Lynch syndrome Muir-torre syndrome 4 4 MSH2 (8), MSH6 (8), PMS2 (7), MLH1 (8) 0.08000 1.00000 9.049e-11 9.114e-10 39 Hyperglycemia monogenic diabetes 5 5 INS (3), GCK (3), HNF1A (3), PDX1 (2), NEUROD1 (2) 0.08621 0.50000 8.970e-11 9.039e-10 35 Coronary restenosis Vascular system injury 4 4 ACE (2), SPP1 (2), HMOX1 (2), TNF (2) 0.19048 0.40000 8.950e-11 9.022e-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 8.999e-10 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 8.764e-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 8.439e-10 66 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 8.394e-10 Night blindness, congenital stationary Retinitis punctata albescens 4 3 RDH5 (2), RHO (4), RLBP1 (3), CD63 (1) 0.14286 0.66667 8.086e-11 8.172e-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 8.129e-10 14 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 8.050e-10 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 7.998e-10 136 Christ-siemens-touraine syndrome Ectodermal dysplasia 4 3 EDAR (4), EDA (3), RANBP2 (1), EDARADD (5) 0.11765 0.80000 7.668e-11 7.764e-10 76 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 7.597e-10 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 7.381e-10 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 7.325e-10 3 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 7.325e-10 1 Complement component deficiency Mesangiocapillary glomerulonephritis 4 4 CFI (5), C3 (6), CFB (5), CFH (5) 0.18182 0.50000 7.096e-11 7.202e-10 Complement component deficiency Complement pathway abnormality 4 4 C1S (5), C2 (5), C4B (5), C4A (5) 0.18182 0.50000 7.096e-11 7.202e-10 C3 glomerulonephritis Complement component deficiency 4 4 CFI (5), C3 (8), CFB (7), CFH (5) 0.18182 0.50000 7.096e-11 7.202e-10 Hypercholanemia Hypercholesterolemia 4 4 EPHX1 (3), TJP2 (6), BAAT (5), SLC10A1 (5) 0.08511 1.00000 6.970e-11 7.084e-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 7.074e-10 12 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 6.827e-10 Extraskeletal ewing sarcoma Skeletal ewing sarcoma 3 0 ERG (1), EWSR1 (1), FLI1 (1) 0.42857 0.75000 6.574e-11 6.692e-10 Kleins syndrome Waardenburg-shah syndrome 3 3 EDNRB (3), MITF (3), EDN3 (3) 0.42857 0.75000 6.574e-11 6.692e-10 186 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 6.623e-10 58 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 6.551e-10 136 Bone resorption Hypercalcemia 4 4 PTHLH (2), PTH (2), TNFRSF11B (2), TNFSF11 (2) 0.20000 0.40000 6.395e-11 6.522e-10 259 Spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia 5 5 ACAN (6), COL2A1 (8), TRPV4 (6), B3GALT6 (6), RPL13 (6) 0.12821 0.27778 6.226e-11 6.353e-10 44 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 6.321e-10 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 6.237e-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 6.237e-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 6.061e-10 13 Focal epilepsy Partial epilepsy 4 4 DEPDC5 (2), CLASP1 (2), NPRL2 (3), NPRL3 (3) 0.08889 1.00000 5.798e-11 5.931e-10 Bouillaud’s disease Pemphigus vulgaris 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.37500 1.00000 5.753e-11 5.888e-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 5.888e-10 404 Hypoalphalipoproteinemia Hypobetalipoproteinemia 3 2 APOB (6), PCSK9 (1), ANGPTL3 (6) 0.37500 1.00000 5.753e-11 5.888e-10 Hypocalcemic vitamin d-dependent rickets Vitamin d dependent rickets 3 3 VDR (6), CYP27B1 (7), CYP2R1 (7) 0.37500 1.00000 5.753e-11 5.888e-10 342 Epidermal nevus Schimmelpenning-feuerstein-mims syndrome 3 3 KRAS (2), NRAS (4), HRAS (4) 0.37500 1.00000 5.753e-11 5.888e-10 17 Bouillaud’s disease Uveomeningoencephalitic syndrome 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.37500 1.00000 5.753e-11 5.888e-10 1 Bor syndrome Branchiootorenal syndrome 3 3 EYA1 (6), SIX5 (7), SIX1 (7) 0.37500 1.00000 5.753e-11 5.888e-10 134 Early-onset generalized limb-onset dystonia Torsion dystonia 3 3 EIF2AK2 (3), TOR1A (4), SHQ1 (2) 0.37500 1.00000 5.753e-11 5.888e-10 172 Benign hereditary chorea Bouillaud’s disease 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.37500 1.00000 5.753e-11 5.888e-10 1 Clubfoot Congenital clubfoot 4 4 CHST14 (2), MTHFR (2), PITX1 (6), LMX1B (2) 0.15385 0.66667 5.662e-11 5.820e-10 27 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 5.773e-10 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 5.604e-10 1 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 5.531e-10 26 Aniridia Anterior segment mesenchymal dysgenesis 4 4 FOXC1 (2), FOXD3 (2), PAX6 (4), PITX2 (2) 0.20000 0.44444 5.373e-11 5.531e-10 82 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 5.483e-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 5.283e-10 34 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 5.257e-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 5.227e-10 181 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 5.029e-10 Sebaceous gland disease Seborrheic keratosis 5 0 RALY (1), IRF4 (1), TYR (1), DEF8 (1), SLC45A2 (1) 0.12195 0.35714 4.659e-11 4.813e-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 4.638e-10 262 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 4.524e-10 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 4.403e-10 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 4.323e-10 228 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 4.312e-10 4 Asbestosis Cystic fibrosis 6 4 SERPINA1 (3), GSTT1 (2), IL1B (2), TNF (2), EPHX1 (1), GSTM1 (1) 0.08108 0.35294 3.975e-11 4.118e-10 Bronchiectasis Cystic fibrosis 6 6 SERPINA1 (3), TNF (2), SCNN1A (6), CFTR (7), SCNN1B (6), SCNN1G (5) 0.08108 0.35294 3.975e-11 4.118e-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 4.095e-10 1 Bladder calculus Kidney and ureter calculus 4 4 CASR (2), RGS14 (2), SLC34A1 (2), CYP24A1 (2) 0.09756 1.00000 3.903e-11 4.050e-10 Hypercalcemia Hypercalciuria 4 4 PTH (2), KL (2), SLC34A1 (2), CYP24A1 (2) 0.21053 0.44444 3.839e-11 3.985e-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 3.985e-10 35 Intrahepatic cholestasis Progressive intrahepatic cholestasis 4 4 ATP8B1 (4), TJP2 (2), ABCB11 (3), ABCB4 (5) 0.21053 0.44444 3.839e-11 3.985e-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 3.985e-10 26 Epidermolysis bullosa Other epidermolysis bullosa 4 3 PLEC (8), LAMB3 (1), ITGB4 (5), ITGA6 (2) 0.16667 0.66667 3.827e-11 3.981e-10 229 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 3.835e-10 4 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 3.740e-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 3.721e-10 2 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 3.675e-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 3.563e-10 Panhypopituitarism Septo-optic dysplasia 5 5 SOX3 (6), HESX1 (5), PROKR2 (3), OTX2 (2), FGFR1 (3) 0.10204 0.50000 3.331e-11 3.475e-10 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 3.462e-10 Bethlem myopathy Collagen vi muscular dystrophy 3 3 COL6A3 (6), COL6A1 (6), COL6A2 (6) 0.42857 1.00000 3.288e-11 3.433e-10 307 Bethlem myopathy collagen 6-related myopathy 3 3 COL6A3 (7), COL6A1 (7), COL6A2 (7) 0.42857 1.00000 3.288e-11 3.433e-10 307 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 3.433e-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 3.433e-10 260 collagen 6-related myopathy Collagen vi-related myopathy 3 3 COL6A3 (2), COL6A1 (3), COL6A2 (2) 0.42857 1.00000 3.288e-11 3.433e-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 3.433e-10 307 Collagen vi-related myopathy Digenic alport syndrome 3 3 COL4A5 (3), COL4A3 (3), COL4A4 (3) 0.42857 1.00000 3.288e-11 3.433e-10 Congenital insensitivity to pain Erythromelalgia 3 1 SCN10A (1), SCN11A (1), SCN9A (5) 0.42857 1.00000 3.288e-11 3.433e-10 171 Methemoglobinemia Unstable hemoglobin disease 3 3 HBA1 (5), HBA2 (3), HBB (7) 0.42857 1.00000 3.288e-11 3.433e-10 24 Hemoglobin m disease Methemoglobinemia 3 3 HBA1 (7), HBA2 (3), HBB (7) 0.42857 1.00000 3.288e-11 3.433e-10 24 Cardiac arrest Paroxysmal familial ventricular fibrillation 4 2 DSP (1), DPP6 (2), RYR2 (1), SCN5A (2) 0.14286 0.80000 3.189e-11 3.347e-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 3.347e-10 25 Dyskeratosis congenita Telomere syndrome 4 4 RTEL1 (6), TERT (8), PARN (6), WRAP53 (8) 0.14286 0.80000 3.189e-11 3.347e-10 77 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 3.314e-10 131 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 3.287e-10 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 3.146e-10 21 Beckwith-wiedemann syndrome Silver-russell syndrome 4 2 IGF2 (7), INS-IGF2 (1), CDKN1C (8), - (1) 0.22222 0.40000 2.953e-11 3.109e-10 323 Jeune syndrome Saldino-noonan syndrome 5 3 NEK1 (1), DYNC2H1 (5), DYNC2I1 (3), DYNC2I2 (3), DYNLT2B (1) 0.10417 0.50000 2.944e-11 3.101e-10 19 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 3.008e-10 Autoinflammatory syndrome Hereditary hemophagocytic lymphohistiocytosis 4 4 PRF1 (2), UNC13D (2), STX11 (2), STXBP2 (2) 0.10526 1.00000 2.821e-11 2.974e-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 2.974e-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 2.974e-10 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 2.897e-10 57 hereditary pheochromocytoma-paraganglioma Pheochromocytoma 4 4 SDHB (2), SDHD (2), TMEM127 (4), MAX (4) 0.20000 0.57143 2.716e-11 2.869e-10 78 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 2.835e-10 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 2.810e-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 2.810e-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 2.797e-10 75 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 2.797e-10 Autoimmune polyendocrine syndrome Oropharyngeal neoplasms 3 3 HLA-DQA1 (2), HLA-DRB1 (2), HLA-DQB1 (2) 0.50000 0.75000 2.630e-11 2.787e-10 1 Alport syndrome Alport syndrome, x-linked 3 3 COL4A5 (5), COL4A3 (5), COL4A4 (5) 0.50000 0.75000 2.630e-11 2.787e-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 2.787e-10 209 Hypertyrosinemia Tyrosinemia 3 3 FAH (7), HPD (6), TAT (7) 0.50000 0.75000 2.630e-11 2.787e-10 199 Cachexia Colitis 5 5 IGF1 (2), TNF (2), IL6 (2), PTGS2 (2), GHRL (2) 0.12195 0.41667 2.580e-11 2.740e-10 43 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 2.692e-10 62 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 2.691e-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 2.675e-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 2.636e-10 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 2.622e-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 2.547e-10 153 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 2.515e-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 2.417e-10 autosomal recessive primary microcephaly Primary microcephaly 4 4 CENPE (4), ASPM (4), CDK5RAP2 (4), STIL (4) 0.11111 1.00000 2.236e-11 2.385e-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 2.367e-10 35 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 2.331e-10 Macular and posterior pole degeneration Mesangiocapillary glomerulonephritis 4 4 CFI (2), C3 (2), CD46 (2), CFH (2) 0.22222 0.50000 2.134e-11 2.279e-10 32 Basal ganglia disease Primary familial brain calcification 4 4 PDGFRB (4), XPR1 (4), PDGFB (4), SLC20A2 (3) 0.22222 0.50000 2.134e-11 2.279e-10 411 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 2.250e-10 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 2.216e-10 2 Cryptophthalmos syndrome Mobius syndrome 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.21053 0.57143 2.037e-11 2.181e-10 90 Cyclocephaly Mobius syndrome 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.21053 0.57143 2.037e-11 2.181e-10 90 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 2.174e-10 1 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 2.129e-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 2.129e-10 Gouty arthritis Hyperuricemia 6 6 SLC2A9 (3), TGFB1 (2), XDH (2), ABCG2 (5), ALDH16A1 (2), SLC17A3 (4) 0.08108 0.40000 1.971e-11 2.115e-10 Nuclear cataract Sutural cataract 4 4 CRYBB2 (2), GJA8 (3), MIP (2), CRYBA1 (2) 0.19048 0.66667 1.958e-11 2.102e-10 51 Congenital generalized lipodystrophy Lipodystrophy 4 4 CAV1 (7), BSCL2 (7), CAVIN1 (7), AGPAT2 (7) 0.19048 0.66667 1.958e-11 2.102e-10 79 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 2.095e-10 7 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 2.086e-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 2.084e-10 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 2.048e-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 2.025e-10 46 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 1.965e-10 Anophthalmia Congenital ocular coloboma 5 1 RARB (1), ELP4 (1), PAX6 (1), RAX (2), RBP4 (1) 0.13889 0.35714 1.808e-11 1.950e-10 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 1.946e-10 Cataract-microcornea syndrome Lamellar cataract 4 4 CRYAA (3), CRYBA4 (3), CRYGC (3), CRYGD (3) 0.23529 0.44444 1.773e-11 1.913e-10 51 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 1.907e-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 1.894e-10 Cryptospermia Testicular azoospermia 4 0 TRIM71 (1), DMC1 (1), M1AP (1), SYCP2 (1) 0.11765 1.00000 1.748e-11 1.889e-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 1.889e-10 8 Autoimmune hepatitis Pleural diseases 5 5 IL4 (2), IL6 (2), TGFB1 (2), IFNG (2), CCL2 (2) 0.11364 0.50000 1.739e-11 1.882e-10 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 1.826e-10 Thalassemia Unstable hemoglobin disease 3 3 HBA1 (3), HBA2 (3), HBB (4) 0.50000 1.00000 1.644e-11 1.781e-10 24 Hemoglobin m disease Thalassemia 3 3 HBA1 (3), HBA2 (2), HBB (4) 0.50000 1.00000 1.644e-11 1.781e-10 24 Hyperglycinuria Iminoglycinuria 3 3 SLC36A2 (6), SLC6A19 (3), SLC6A20 (4) 0.50000 1.00000 1.644e-11 1.781e-10 Mitochondrial hepatopathy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 3 2 POLG (6), TWNK (5), POLGARF (1) 0.50000 1.00000 1.644e-11 1.781e-10 181 Dysfibrinogenemia Hypofibrinogenemia 3 3 FGA (5), FGG (5), FGB (4) 0.50000 1.00000 1.644e-11 1.781e-10 156 Afibrinogenemia Dysfibrinogenemia 3 3 FGA (4), FGG (4), FGB (4) 0.50000 1.00000 1.644e-11 1.781e-10 156 Congenital afibrinogenemia Dysfibrinogenemia 3 3 FGA (5), FGG (5), FGB (4) 0.50000 1.00000 1.644e-11 1.781e-10 156 Congenital fibrinogen deficiency Dysfibrinogenemia 3 3 FGA (5), FGG (5), FGB (4) 0.50000 1.00000 1.644e-11 1.781e-10 156 Congenital hypofibrinogenemia Dysfibrinogenemia 3 3 FGA (3), FGG (3), FGB (3) 0.50000 1.00000 1.644e-11 1.781e-10 156 Cerebral thrombosis Intracranial thrombosis 3 3 PLAT (2), SERPINC1 (2), VWF (2) 0.50000 1.00000 1.644e-11 1.781e-10 Chilblain lupus Chilblain lupus erythematosus 3 3 SAMHD1 (7), TREX1 (7), STING1 (3) 0.50000 1.00000 1.644e-11 1.781e-10 159 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 1.762e-10 34 Hemophilia a Venous thrombosis 5 5 F2 (2), MTHFR (2), PLAT (2), F8 (6), TFPI (2) 0.14706 0.31250 1.580e-11 1.722e-10 36 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 1.691e-10 Hereditary breast cancer Muir-torre syndrome 4 4 MSH2 (5), MSH6 (2), PMS2 (2), MLH1 (5) 0.12121 1.00000 1.536e-11 1.676e-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 1.676e-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 1.676e-10 Orofaciodigital syndrome Warburg micro syndrome 4 4 RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5) 0.12121 1.00000 1.536e-11 1.676e-10 Hemochromatosis Hereditary hemochromatosis 4 4 TFR2 (6), HFE (6), HAMP (6), SLC40A1 (5) 0.22222 0.57143 1.494e-11 1.634e-10 148 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 1.539e-10 39 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 1.519e-10 22 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 1.506e-10 3 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 1.420e-10 8 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 1.352e-10 21 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 1.342e-10 4 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 1.327e-10 238 Appendiceal disorder Appendicitis 4 0 MND1 (1), TMEM131L (1), FFAR2 (1), KRTDAP (1) 0.12903 1.00000 1.170e-11 1.285e-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 1.275e-10 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 1.262e-10 monogenic diabetes Transient neonatal diabetes mellitus 4 4 INS (3), ABCC8 (7), KCNJ11 (6), GCK (3) 0.25000 0.44444 1.128e-11 1.241e-10 35 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 1.191e-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 1.191e-10 Melanocytic nevus Seborrheic keratosis 5 0 TYR (1), DEF8 (1), CASP8 (1), FLACC1 (1), SLC45A2 (1) 0.13158 0.45455 1.080e-11 1.189e-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 1.189e-10 31 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 1.187e-10 49 Oculocutaneous albinism Skin hair eye pigmentation variation 4 4 OCA2 (7), SLC45A2 (6), SLC24A5 (4), TYRP1 (4) 0.23529 0.57143 1.067e-11 1.178e-10 302 Hypercalcemia Osteolysis 4 4 TNF (2), PTHLH (2), TNFRSF11B (2), TNFSF11 (2) 0.23529 0.57143 1.067e-11 1.178e-10 259 Basal ganglia disease Fahr's disease 4 4 PDGFRB (2), XPR1 (2), PDGFB (2), SLC20A2 (2) 0.23529 0.57143 1.067e-11 1.178e-10 411 Costello syndrome Epidermal nevus 4 3 KRAS (3), NRAS (5), HRAS (6), LRRC56 (1) 0.23529 0.57143 1.067e-11 1.178e-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 1.143e-10 3 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 1.112e-10 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 1.045e-10 6 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 1.031e-10 131 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 1.010e-10 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 9.978e-11 36 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 9.634e-11 4 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 9.190e-11 89 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 9.144e-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 9.144e-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 9.144e-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 8.998e-11 66 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 8.758e-11 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 8.350e-11 238 mismatch repair cancer syndrome 1 Rhabdomyosarcoma 4 4 MSH2 (2), MSH6 (2), PMS2 (3), MLH1 (2) 0.14286 1.00000 7.495e-12 8.349e-11 39 Muir-torre syndrome Rhabdomyosarcoma 4 3 MSH2 (5), MSH6 (1), PMS2 (3), MLH1 (5) 0.14286 1.00000 7.495e-12 8.349e-11 39 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 8.003e-11 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 7.996e-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 7.439e-11 103 Mandibuloacral dysostosis Mandibuloacral dysplasia 3 3 MTX2 (6), LMNA (6), ZMPSTE24 (7) 0.60000 1.00000 6.575e-12 7.343e-11 83 Erythromelalgia Paroxysmal extreme pain disorder 3 1 SCN10A (1), SCN11A (1), SCN9A (6) 0.60000 1.00000 6.575e-12 7.343e-11 171 Glycinuria with/without oxalate urolithiasis Hyperglycinuria 3 3 SLC36A2 (5), SLC6A19 (2), SLC6A20 (2) 0.60000 1.00000 6.575e-12 7.343e-11 Hypercalcemic tumoral calcinosis Tumoral calcinosis 3 3 KL (4), GALNT3 (6), FGF23 (4) 0.60000 1.00000 6.575e-12 7.343e-11 351 Hyperphosphatemic tumoral calcinosis Tumoral calcinosis 3 3 KL (4), GALNT3 (7), FGF23 (5) 0.60000 1.00000 6.575e-12 7.343e-11 351 3mc syndrome Craniofacial ulnar renal syndrome 3 3 COLEC10 (2), COLEC11 (2), MASP1 (3) 0.60000 1.00000 6.575e-12 7.343e-11 292 Alport syndrome Digenic alport syndrome 3 3 COL4A5 (4), COL4A3 (6), COL4A4 (6) 0.60000 1.00000 6.575e-12 7.343e-11 91 Alport syndrome, x-linked Digenic alport syndrome 3 3 COL4A5 (4), COL4A3 (3), COL4A4 (3) 0.60000 1.00000 6.575e-12 7.343e-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 7.343e-11 1 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 7.343e-11 421 Coronary artery vasospasm Coronary vasospasm 3 3 NOS3 (2), PON1 (2), ARHGAP9 (2) 0.60000 1.00000 6.575e-12 7.343e-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 7.343e-11 292 Cystine urolithiasis Cystinuria 3 2 SLC7A9 (8), PREPL (1), SLC3A1 (7) 0.60000 1.00000 6.575e-12 7.343e-11 Delta-beta thalassemia Hemoglobin f disease 3 2 HBB (3), HBG2 (1), HBG1 (3) 0.60000 1.00000 6.575e-12 7.343e-11 18 Autoimmune polyendocrine syndrome Bouillaud’s disease 3 0 HLA-DQA1 (1), HLA-DRB1 (1), HLA-DQB1 (1) 0.60000 1.00000 6.575e-12 7.343e-11 1 collagen 6-related myopathy Ullrich congenital muscular dystrophy 3 3 COL6A3 (7), COL6A1 (7), COL6A2 (7) 0.60000 1.00000 6.575e-12 7.343e-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 7.343e-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 7.343e-11 276 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 7.343e-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 7.228e-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 7.228e-11 3 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 6.854e-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 6.737e-11 13 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 6.321e-11 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 6.002e-11 7 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 5.998e-11 46 Chondrodysplasia Rhizomelic chondrodysplasia punctata 4 4 PEX7 (6), AGPS (6), GNPAT (6), PEX5 (6) 0.21053 0.80000 5.079e-12 5.752e-11 305 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 5.724e-11 Congenital pes cavus Polyneuropathy 5 0 DYNC1H1 (1), SMC1A (1), GDAP1 (1), BIVM-ERCC5 (1), ERCC5 (1) 0.15625 0.41667 4.636e-12 5.256e-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 5.256e-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 5.256e-11 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 5.197e-11 35 Heimler syndrome Peroxisome biogenesis disorder 4 3 PEX6 (8), GATAD1 (1), PEX1 (6), PEX26 (7) 0.16000 1.00000 4.538e-12 5.157e-11 141 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 5.057e-11 13 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 4.608e-11 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 4.572e-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 4.488e-11 4 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 4.445e-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 4.421e-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 4.421e-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 4.421e-11 13 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 4.375e-11 Anterior segment dysgenesis Rieger syndrome 4 2 COL4A1 (1), FOXC1 (5), PITX2 (5), PTCH1 (1) 0.16667 1.00000 3.782e-12 4.321e-11 82 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 4.298e-11 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 4.126e-11 153 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 4.126e-11 153 Disseminated intravascular coagulation Thrombophilia 5 4 F13A1 (3), F2 (6), PROC (5), TFPI (1), THBD (3) 0.13514 0.55556 3.499e-12 4.006e-11 36 Cerebral hemorrhage Hemorrhage 6 0 ITGB3 (1), VEGFA (1), PLAU (1), POMC (1), PLAT (1), F7 (1) 0.12500 0.25000 3.378e-12 3.870e-11 36 Cerebrooculofacioskeletal syndrome Xeroderma pigmentosum 4 3 ERCC1 (5), ERCC2 (8), BIVM-ERCC5 (1), ERCC5 (7) 0.26667 0.66667 3.169e-12 3.632e-11 Cryptophthalmos syndrome Goldenhar syndrome 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.28571 0.57143 3.136e-12 3.597e-11 90 Cyclocephaly Goldenhar syndrome 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.28571 0.57143 3.136e-12 3.597e-11 90 Hereditary elliptocytosis Spherocytosis 4 3 SPTA1 (5), SPTB (4), SLC4A1 (3), OR10Z1 (1) 0.28571 0.57143 3.136e-12 3.597e-11 271 Heterotaxy syndrome Visceral heterotaxy 4 4 CIROZ (4), LEFTY2 (2), DAW1 (3), CFAP52 (4) 0.17391 1.00000 3.124e-12 3.589e-11 54 Mucopolysaccharidosis Sanfilippo syndrome 4 4 NAGLU (7), SGSH (7), GNS (6), HGSNAT (7) 0.17391 1.00000 3.124e-12 3.589e-11 147 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 3.534e-11 21 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 3.522e-11 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 3.489e-11 13 Apert syndrome Mobius syndrome 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.23529 0.80000 2.913e-12 3.356e-11 90 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 3.294e-11 46 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 3.204e-11 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 3.141e-11 8 Hemangiosarcoma Uterine neoplasms 6 0 VEGFA (1), CTNNB1 (1), CSF3 (1), KRAS (1), MYC (1), CCND1 (1) 0.11765 0.33333 2.712e-12 3.131e-11 4 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 3.127e-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 3.094e-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 2.865e-11 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 2.865e-11 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 2.731e-11 303 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 2.729e-11 31 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 2.506e-11 127 Distal myopathy Vitelliform macular dystrophy 4 4 BEST1 (4), IMPG1 (4), IMPG2 (4), PRPH2 (4) 0.25000 0.80000 2.136e-12 2.477e-11 310 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 2.474e-11 21 Lamellar cataract Sutural cataract 4 4 BFSP2 (2), CRYGS (2), MIP (2), CRYBA1 (2) 0.28571 0.66667 2.113e-12 2.452e-11 51 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 2.429e-11 77 Platelet-type bleeding disorder Thrombasthenia 4 4 ITGB3 (6), ITGA2 (2), ITGA2B (6), RASGRP2 (7) 0.19048 1.00000 2.069e-12 2.406e-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 2.406e-11 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 2.391e-11 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 2.379e-11 2 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 2.346e-11 22 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 2.312e-11 58 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 2.290e-11 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 2.264e-11 Dystonia musculorum deformans Torsion dystonia 4 4 THAP1 (3), TOR1A (2), TUBB4A (3), HPCA (4) 0.30769 0.57143 1.882e-12 2.197e-11 172 Exudative retinopathy Exudative vitreoretinopathy 4 3 PRSS23 (1), FZD4 (5), RCBTB1 (2), NDP (4) 0.30769 0.57143 1.882e-12 2.197e-11 189 Genetic torsion dystonia Torsion dystonia 4 3 THAP1 (3), TOR1A (1), TUBB4A (3), HPCA (3) 0.30769 0.57143 1.882e-12 2.197e-11 172 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 2.089e-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 2.033e-11 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 2.000e-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 2.000e-11 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 1.976e-11 41 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 1.968e-11 377 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 1.967e-11 304 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 1.966e-11 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 1.944e-11 Amyloidosis Visceral amyloidosis 4 4 APOA1 (3), FGA (5), LYZ (4), B2M (5) 0.20000 1.00000 1.655e-12 1.944e-11 128 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 1.944e-11 Eichsfeld type congenital muscular dystrophy Rigid spine muscular dystrophy 3 3 ACTA1 (3), HMGCS1 (2), SELENON (4) 0.75000 1.00000 1.644e-12 1.934e-11 Cholesterol ester transfer protein deficiency Hyperalphalipoproteinemia 3 3 SCARB1 (2), APOC3 (3), CETP (6) 0.75000 1.00000 1.644e-12 1.934e-11 Cold-induced sweating syndrome Crisponi syndrome 3 3 KLHL7 (4), CLCF1 (6), CRLF1 (7) 0.75000 1.00000 1.644e-12 1.934e-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 1.934e-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 1.934e-11 269 Congenital afibrinogenemia Congenital fibrinogen deficiency 3 3 FGA (4), FGG (4), FGB (4) 0.75000 1.00000 1.644e-12 1.934e-11 156 Congenital afibrinogenemia Congenital hypofibrinogenemia 3 3 FGA (3), FGG (3), FGB (2) 0.75000 1.00000 1.644e-12 1.934e-11 156 Congenital afibrinogenemia Hypofibrinogenemia 3 3 FGA (5), FGG (4), FGB (4) 0.75000 1.00000 1.644e-12 1.934e-11 156 Congenital fibrinogen deficiency Congenital hypofibrinogenemia 3 3 FGA (3), FGG (3), FGB (3) 0.75000 1.00000 1.644e-12 1.934e-11 156 Congenital fibrinogen deficiency Hypofibrinogenemia 3 3 FGA (5), FGG (4), FGB (4) 0.75000 1.00000 1.644e-12 1.934e-11 156 Congenital hypofibrinogenemia Hypofibrinogenemia 3 3 FGA (3), FGG (3), FGB (3) 0.75000 1.00000 1.644e-12 1.934e-11 156 11p11.2 deletion syndrome Potocki-shaffer syndrome 3 3 ALX4 (2), EXT2 (2), PHF21A (3) 0.75000 1.00000 1.644e-12 1.934e-11 108 3mc syndrome Malpuech facial clefting syndrome 3 3 COLEC10 (3), COLEC11 (3), MASP1 (4) 0.75000 1.00000 1.644e-12 1.934e-11 292 Afibrinogenemia Congenital afibrinogenemia 3 3 FGA (3), FGG (3), FGB (3) 0.75000 1.00000 1.644e-12 1.934e-11 156 Afibrinogenemia Congenital fibrinogen deficiency 3 3 FGA (4), FGG (4), FGB (4) 0.75000 1.00000 1.644e-12 1.934e-11 156 Afibrinogenemia Congenital hypofibrinogenemia 3 3 FGA (2), FGG (2), FGB (2) 0.75000 1.00000 1.644e-12 1.934e-11 156 Afibrinogenemia Hypofibrinogenemia 3 3 FGA (3), FGG (3), FGB (3) 0.75000 1.00000 1.644e-12 1.934e-11 156 Alpha thalassemia Hemoglobin barts fetalis syndrome 3 2 HBA1 (3), HBA2 (3), ATRX (1) 0.75000 1.00000 1.644e-12 1.934e-11 24 Alpha thalassemia Hemoglobin h disease 3 2 HBA1 (5), HBA2 (6), ATRX (1) 0.75000 1.00000 1.644e-12 1.934e-11 24 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 1.934e-11 1 Familial polycythemia Polycythemia, primary familial and congenital 3 3 SH2B3 (2), EPOR (4), JAK2 (2) 0.75000 1.00000 1.644e-12 1.934e-11 Glucocorticoid deficiency with achalasia Triple a syndrome 3 3 TRAPPC11 (2), AAAS (4), GMPPA (2) 0.75000 1.00000 1.644e-12 1.934e-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 1.934e-11 68 Hemoglobin barts fetalis syndrome Hemoglobin h disease 3 2 HBA1 (5), HBA2 (5), ATRX (1) 0.75000 1.00000 1.644e-12 1.934e-11 24 Hemoglobin m disease Unstable hemoglobin disease 3 3 HBA1 (5), HBA2 (4), HBB (5) 0.75000 1.00000 1.644e-12 1.934e-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 1.934e-11 112 Hereditary xerocytosis Xerocytosis 3 3 PIEZO1 (7), SLC4A1 (2), KCNN4 (6) 0.75000 1.00000 1.644e-12 1.934e-11 431 Hypercalcemic tumoral calcinosis Hyperphosphatemic tumoral calcinosis 3 3 KL (2), GALNT3 (2), FGF23 (2) 0.75000 1.00000 1.644e-12 1.934e-11 351 Lacrimoauriculodentodigital syndrome Ladd syndrome 3 3 FGFR3 (5), FGF10 (6), FGFR2 (7) 0.75000 1.00000 1.644e-12 1.934e-11 321 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 1.914e-11 36 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 1.895e-11 11 Melas syndrome Progressive external ophthalmoplegia 5 5 IL1A (2), IL1B (2), SOD2 (2), SOD1 (2), POLG (3) 0.18519 0.38462 1.521e-12 1.821e-11 26 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 1.796e-11 46 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 1.791e-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 1.773e-11 19 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 1.749e-11 1 Achromatopsia Cone dystrophy 5 5 CNGA3 (3), CNGB3 (4), GNAT2 (4), PDE6C (7), PDE6H (2) 0.12195 0.71429 1.457e-12 1.749e-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 1.684e-11 304 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 1.652e-11 Congenital hyperinsulinism monogenic diabetes 4 4 ABCC8 (3), HNF4A (3), KCNJ11 (3), GCK (3) 0.30769 0.66667 1.345e-12 1.617e-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 1.617e-11 Laryngeal carcinoma Laryngeal neoplasms 4 0 ATXN10 (1), PRKG1 (1), WNT7B (1), SH3BP4 (1) 0.30769 0.66667 1.345e-12 1.617e-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 1.584e-11 Junctional epidermolysis bullosa Weber-cockayne syndrome 4 1 KRT5 (1), ITGB4 (6), GALK1 (1), KRT14 (1) 0.21053 1.00000 1.307e-12 1.576e-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 1.441e-11 22 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 1.413e-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 1.413e-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 1.413e-11 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 1.352e-11 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 1.348e-11 31 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 1.340e-11 2 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 1.331e-11 35 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 1.327e-11 3 Osteochondrodysplasias Spondyloepiphyseal dysplasia 6 6 HSPG2 (2), COL2A1 (8), TRPV4 (3), GLB1 (2), CHST3 (6), TRAPPC2 (6) 0.13043 0.33333 1.092e-12 1.324e-11 44 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 1.295e-11 Hereditary corneal dystrophy Polymorphous corneal dystrophy 4 0 COL8A2 (1), OVOL2 (1), VSX1 (1), ZEB1 (1) 0.28571 0.80000 1.057e-12 1.283e-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 1.283e-11 87 Capillary malformation-arteriovenous malformation Klippel-trenaunay syndrome 4 2 GNAQ (3), RASA1 (6), PIK3CA (1), CCNH (1) 0.33333 0.57143 1.046e-12 1.271e-11 65 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 1.232e-11 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 1.221e-11 Macrothrombocytopenia Platelet-type bleeding disorder 5 5 ITGB3 (6), ITGA2B (6), TPM4 (5), ACTN1 (6), GFI1B (6) 0.18519 0.45455 9.888e-13 1.204e-11 67 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 1.166e-11 46 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 1.157e-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 1.090e-11 57 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 1.061e-11 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 1.061e-11 39 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 9.950e-12 127 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 9.950e-12 127 Bartter syndrome Gitelman syndrome 4 3 CLCNKB (6), SLC12A1 (7), CASR (1), SLC12A3 (5) 0.33333 0.66667 8.068e-13 9.869e-12 410 Ichthyosis Xeroderma 4 0 GJB2 (1), PNPLA1 (1), KRT2 (1), SUPV3L1 (1) 0.23529 1.00000 7.773e-13 9.514e-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 9.315e-12 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 9.121e-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 9.072e-12 100 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 8.870e-12 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 8.858e-12 21 Ductal carcinoma Intraductal noninfiltrating carcinoma 4 0 CA9 (1), HIF1A (1), STAT5A (1), SLC2A1 (1) 0.30769 0.80000 7.044e-13 8.653e-12 99 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 8.415e-12 46 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 8.385e-12 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 8.065e-12 66 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 7.627e-12 136 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 7.608e-12 63 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 7.540e-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 7.499e-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 7.499e-12 31 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 7.371e-12 Aniridia Anterior segment dysgenesis 5 5 ELP4 (5), FOXC1 (5), FOXD3 (2), PAX6 (4), PITX2 (5) 0.17857 0.55556 5.859e-13 7.239e-12 82 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 7.239e-12 35 Ectodermal dysplasia Hypohidrotic ectodermal dysplasia 5 5 EDAR (6), WNT10A (4), EDARADD (7), KDF1 (7), CSTB (3) 0.14286 0.71429 5.849e-13 7.236e-12 76 Cleft eyelid Coloboma 4 2 PAX6 (4), FZD5 (1), ABCB6 (1), SALL2 (2) 0.25000 1.00000 5.830e-13 7.216e-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 7.216e-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 7.216e-12 90 Mobius syndrome Warburg micro syndrome 4 4 RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5) 0.25000 1.00000 5.830e-13 7.216e-12 90 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 7.135e-12 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 6.851e-12 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 6.765e-12 21 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 6.749e-12 43 Mitochondrial myopathy Progressive external ophthalmoplegia 5 5 RRM2B (4), IL1A (2), IL1B (2), SLC25A4 (3), TK2 (3) 0.20833 0.38462 5.338e-13 6.639e-12 26 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 6.588e-12 Cryptophthalmos syndrome Cyclocephaly 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.36364 0.57143 5.229e-13 6.511e-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 6.511e-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 6.511e-12 1 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 6.477e-12 136 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 6.395e-12 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 6.064e-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 5.972e-12 50 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 5.943e-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 5.943e-12 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 5.874e-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 5.857e-12 36 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 5.714e-12 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 5.714e-12 Cavernous malformations of cns Cerebral cavernous malformation 4 4 KRIT1 (6), PDCD10 (7), PIK3CA (4), CCM2 (7) 0.36364 0.66667 4.483e-13 5.626e-12 249 Apert syndrome Goldenhar syndrome 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.33333 0.80000 4.483e-13 5.626e-12 90 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 5.371e-12 102 Digenic hemochromatosis Hemochromatosis 4 4 TFR2 (7), HFE (7), HAMP (7), HJV (7) 0.26667 1.00000 4.275e-13 5.371e-12 148 Epiphyseal dysplasia Marshall syndrome 5 5 SLC26A2 (3), COL2A1 (3), COL9A1 (5), COL9A2 (5), COL9A3 (5) 0.20000 0.50000 4.049e-13 5.094e-12 308 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 5.059e-12 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 4.885e-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 4.692e-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 4.692e-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 4.692e-12 36 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 4.643e-12 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 4.575e-12 49 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 4.475e-12 7 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 4.418e-12 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 4.417e-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 4.417e-12 63 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 4.317e-12 11 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 4.181e-12 14 Colobomatous microphthalmia Nanophthalmos 5 0 SOX2 (1), SIX6 (1), OTX2 (1), RAX (1), ALDH1A3 (1) 0.21739 0.41667 3.287e-13 4.169e-12 52 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 3.998e-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 3.951e-12 4 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 3.915e-12 Waardenburg syndrome Waardenburg-shah syndrome 4 4 EDNRB (8), MITF (7), EDN3 (8), SOX10 (8) 0.28571 1.00000 3.054e-13 3.883e-12 186 Constitutional mismatch repair deficiency Muir-torre syndrome 4 4 MSH2 (7), MSH6 (7), PMS2 (7), MLH1 (8) 0.28571 1.00000 3.054e-13 3.883e-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 3.883e-12 39 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 3.707e-12 8 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 3.616e-12 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 3.585e-12 103 Hyperuricemic nephropathy Tubulointerstitial kidney disease 4 3 HNF1B (1), REN (3), UMOD (3), SEC61A1 (5) 0.36364 0.80000 2.690e-13 3.433e-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 3.433e-12 423 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 3.367e-12 2 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 2.977e-12 89 Focal cortical dysplasia Tuberous sclerosis complex 4 2 PKD1 (1), TSC2 (7), TSC1 (7), NTHL1 (1) 0.40000 0.66667 2.242e-13 2.868e-12 48 Congenital generalized lipodystrophy Generalized lipodystrophy 4 4 CAV1 (5), BSCL2 (4), CAVIN1 (3), AGPAT2 (4) 0.40000 0.66667 2.242e-13 2.868e-12 79 monogenic diabetes Neonatal diabetes mellitus 5 5 INS (2), ABCC8 (2), KCNJ11 (2), GCK (2), PDX1 (2) 0.21739 0.50000 2.156e-13 2.762e-12 35 Dravet syndrome Febrile convulsion 5 5 GABRG2 (7), SCN1A (5), SCN1B (3), SCN2A (2), SCN9A (2) 0.19231 0.62500 2.040e-13 2.615e-12 228 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 2.594e-12 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 2.552e-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 2.511e-12 144 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 2.443e-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 2.369e-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 2.369e-12 377 Osteochondrodysplasias Stickler syndrome 6 5 COL2A1 (7), COL11A1 (6), COL11A2 (1), COL9A1 (8), COL9A2 (7), COL9A3 (7) 0.14286 0.42857 1.777e-13 2.287e-12 Bone neoplasms Connective tissue neoplasm 5 0 LRP1B (1), KIF13A (1), THSD7B (1), C10orf143 (1), USP20 (1) 0.20000 0.62500 1.577e-13 2.031e-12 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 1.817e-12 56 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 1.678e-12 4 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 1.595e-12 3 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 1.587e-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 1.587e-12 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 1.476e-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 1.431e-12 11 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 1.401e-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 1.395e-12 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 1.346e-12 Microphthalmos Nanophthalmos 6 6 PRSS56 (3), SOX2 (2), OTX2 (2), RAX (2), ALDH1A3 (2), MFRP (6) 0.13953 0.50000 9.634e-14 1.249e-12 52 Berardinelli-seip congenital lipodystrophy Congenital generalized lipodystrophy 4 4 CAV1 (4), BSCL2 (4), CAVIN1 (4), AGPAT2 (5) 0.44444 0.66667 9.608e-14 1.247e-12 79 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 1.243e-12 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 1.239e-12 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 1.201e-12 7 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 1.180e-12 4 Erythrokeratodermia variabilis Greither disease 4 4 GJA1 (5), GJB3 (7), PERP (4), GJB4 (6) 0.36364 1.00000 8.969e-14 1.167e-12 107 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 1.167e-12 90 Goldenhar syndrome Warburg micro syndrome 4 4 RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5) 0.36364 1.00000 8.969e-14 1.167e-12 90 Carbohydrate metabolism disease Intestinal disaccharide malabsorption 4 0 HK1 (1), GCK (1), G6PC2 (1), SPC25 (1) 0.36364 1.00000 8.969e-14 1.167e-12 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 1.167e-12 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 1.151e-12 3 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 1.134e-12 50 Diabetes microvascular complications Diabetic angiopathies 5 5 VEGFA (3), EPO (3), PON1 (2), SOD2 (3), IL1RN (3) 0.16667 0.83333 8.170e-14 1.068e-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 1.068e-12 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 1.064e-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 1.003e-12 40 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 9.828e-13 Apert syndrome Cryptophthalmos syndrome 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.44444 0.80000 7.473e-14 9.801e-13 90 Apert syndrome Cyclocephaly 4 0 RAB18 (1), RAB3GAP1 (1), RAB3GAP2 (1), TBC1D20 (1) 0.44444 0.80000 7.473e-14 9.801e-13 90 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 9.430e-13 Epiphyseal dysplasia Stickler syndrome 5 4 COL2A1 (7), COL1A1 (1), COL9A1 (8), COL9A2 (7), COL9A3 (8) 0.25000 0.50000 6.981e-14 9.173e-13 308 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 8.834e-13 8 Congenital hyperinsulinism Hypoglycemia 5 4 ABCC8 (4), HNF4A (2), KCNJ11 (2), GCK (2), GLUD1 (1) 0.17241 0.83333 6.711e-14 8.829e-13 35 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 8.801e-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 8.801e-13 237 Nuclear cataract Posterior polar cataract 5 5 EPHA2 (3), CRYAB (2), MIP (3), CRYBA1 (2), GJA3 (3) 0.22727 0.62500 6.642e-14 8.755e-13 51 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 8.702e-13 14 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 8.284e-13 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 8.151e-13 63 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 8.064e-13 133 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 8.039e-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 8.000e-13 49 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 7.893e-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 7.828e-13 35 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 7.747e-13 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 7.649e-13 57 Anencephaly Aprosencephaly 4 2 TRIM36 (4), MTRR (1), NUAK2 (3), RPGRIP1L (1) 0.40000 1.00000 5.381e-14 7.143e-13 155 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 6.594e-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 6.557e-13 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 6.501e-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 6.501e-13 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 6.395e-13 63 Osteopetrosis Osteosclerosis 5 5 TNFRSF11A (6), LRP5 (6), CLCN7 (7), TCIRG1 (8), TNFSF11 (5) 0.23810 0.62500 4.798e-14 6.392e-13 265 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 6.334e-13 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 5.988e-13 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 5.831e-13 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 5.809e-13 34 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 5.523e-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 5.523e-13 89 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 5.472e-13 89 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 5.330e-13 14 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 5.221e-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 5.179e-13 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 5.137e-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 4.975e-13 298 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 4.974e-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 4.855e-13 92 Male infertility globozoospermia Spermatogenic failure 7 7 PPP2R3C (4), SPATA16 (4), SEPTIN4 (2), DPY19L2 (7), ZPBP (4), CATSPERT (3), GGN (4) 0.05983 0.77778 3.598e-14 4.841e-13 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 4.776e-13 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 4.562e-13 228 Chloracne Thalassemia 5 5 HBA1 (2), HBA2 (2), GSTM1 (2), HBB (2), HBD (2) 0.14706 1.00000 3.292e-14 4.437e-13 24 Cockayne syndrome Uv-sensitive syndrome 4 2 ERCC8 (8), NDUFAF2 (1), ERCC6 (7), PGBD3 (1) 0.50000 0.80000 3.203e-14 4.320e-13 352 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 4.320e-13 183 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 4.148e-13 11 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 4.115e-13 Hemophagocytic lymphohistiocytosis Hereditary hemophagocytic lymphohistiocytosis 4 4 PRF1 (7), UNC13D (8), STX11 (6), STXBP2 (7) 0.44444 1.00000 2.990e-14 4.043e-13 96 Aicardi goutieres syndrome Interferonopathy 4 4 RNASEH2A (3), RNASEH2B (3), RNASEH2C (2), SAMHD1 (3) 0.44444 1.00000 2.990e-14 4.043e-13 379 Carney-stratakis syndrome Paraganglioma 4 4 SDHB (6), SDHD (6), SDHA (2), SDHC (6) 0.44444 1.00000 2.990e-14 4.043e-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 4.043e-13 78 Bare lymphocyte syndrome MHC class II deficiency 4 4 CIITA (3), RFX5 (2), RFXANK (2), RFXAP (2) 0.44444 1.00000 2.990e-14 4.043e-13 128 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 3.975e-13 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 3.798e-13 82 Corneal dystrophy Polymorphous corneal dystrophy 5 5 COL8A2 (5), OVOL2 (3), VSX1 (2), GRHL2 (3), ZEB1 (5) 0.15152 1.00000 2.794e-14 3.794e-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 3.794e-13 87 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 3.754e-13 238 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 3.747e-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 3.747e-13 36 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 3.712e-13 35 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 3.549e-13 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 3.451e-13 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 3.403e-13 1 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 3.218e-13 50 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 3.213e-13 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 3.192e-13 24 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 3.188e-13 149 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 3.111e-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 3.057e-13 31 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 3.033e-13 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 3.008e-13 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 2.837e-13 41 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 2.775e-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 2.728e-13 87 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 2.563e-13 11 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 2.540e-13 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 2.389e-13 228 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 2.378e-13 3 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 2.374e-13 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 2.275e-13 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 2.268e-13 58 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 2.237e-13 228 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 2.146e-13 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 2.098e-13 Carney-stratakis syndrome hereditary pheochromocytoma-paraganglioma 4 4 SDHB (5), SDHD (5), SDHA (2), SDHC (5) 0.50000 1.00000 1.495e-14 2.071e-13 78 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 2.071e-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 2.071e-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 2.071e-13 90 Cryptophthalmos syndrome Warburg micro syndrome 4 4 RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5) 0.50000 1.00000 1.495e-14 2.071e-13 90 Cyclocephaly Warburg micro syndrome 4 4 RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5) 0.50000 1.00000 1.495e-14 2.071e-13 90 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 2.071e-13 Mandibulofacial dysostosis Treacher collins syndrome 4 4 POLR1C (7), TCOF1 (6), POLR1D (7), POLR1B (6) 0.50000 1.00000 1.495e-14 2.071e-13 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 2.045e-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 2.031e-13 22 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 2.030e-13 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 1.929e-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 1.929e-13 100 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 1.929e-13 100 Angioedema Hereditary angioedema 6 6 KNG1 (6), SERPING1 (7), F12 (7), ANGPT1 (5), MYOF (5), HS3ST6 (4) 0.10169 0.85714 1.370e-14 1.915e-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 1.915e-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 1.909e-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 1.876e-13 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 1.849e-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 1.688e-13 263 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 1.670e-13 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 1.620e-13 22 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 1.522e-13 46 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 1.521e-13 31 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 1.472e-13 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 1.459e-13 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 1.407e-13 73 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 1.405e-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 1.384e-13 21 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 1.382e-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 1.299e-13 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 1.269e-13 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 1.237e-13 149 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 1.229e-13 66 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 1.207e-13 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 1.144e-13 100 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 1.133e-13 51 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 1.125e-13 39 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 1.044e-13 4 Berardinelli-seip congenital lipodystrophy Lipodystrophy 5 5 PPARG (4), CAV1 (5), BSCL2 (5), CAVIN1 (5), AGPAT2 (6) 0.25000 0.83333 7.126e-15 1.013e-13 79 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 9.796e-14 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 9.518e-14 100 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 9.249e-14 211 Fanconi renotubular syndrome Fanconi syndrome 4 4 GATM (8), EHHADH (7), NDUFAF6 (6), SLC34A1 (7) 0.57143 1.00000 6.406e-15 9.135e-14 De toni-debre-fanconi syndrome Fanconi syndrome 4 4 GATM (4), EHHADH (4), NDUFAF6 (3), SLC34A1 (3) 0.57143 1.00000 6.406e-15 9.135e-14 Bethlem myopathy Ullrich congenital muscular dystrophy 4 4 COL12A1 (7), COL6A3 (6), COL6A1 (7), COL6A2 (6) 0.57143 1.00000 6.406e-15 9.135e-14 307 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 8.865e-14 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 8.441e-14 7 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 8.336e-14 107 Hemochromatosis Iron overload 5 5 CP (2), HAMP (6), SLC40A1 (5), BMP6 (5), FTH1 (6) 0.29412 0.71429 5.826e-15 8.336e-14 Congenital hypothyroidism Thyroid dyshormonogenesis 5 5 IYD (5), TPO (5), SLC5A5 (6), DUOX2 (6), DUOXA2 (5) 0.29412 0.71429 5.826e-15 8.336e-14 102 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 7.971e-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 7.886e-14 3 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 7.547e-14 35 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 7.509e-14 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 7.476e-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 6.531e-14 35 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 6.147e-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 6.002e-14 133 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 5.907e-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 5.601e-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 5.155e-14 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 4.967e-14 Hypoglycemia monogenic diabetes 6 6 INS (3), ABCC8 (5), HNF4A (2), KCNJ11 (2), GCK (2), HNF1A (3) 0.18750 0.60000 3.346e-15 4.836e-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 4.754e-14 272 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 4.671e-14 35 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 4.559e-14 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 4.458e-14 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 4.432e-14 4 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 4.067e-14 4 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 4.035e-14 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 4.010e-14 21 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 3.987e-14 182 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 3.837e-14 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 3.837e-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 3.837e-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 3.644e-14 52 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 3.625e-14 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 3.577e-14 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 3.258e-14 41 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 3.257e-14 36 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 3.232e-14 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 3.200e-14 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 3.153e-14 62 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 3.133e-14 Cleft eyelid Congenital iris coloboma 4 0 PAX6 (1), FZD5 (1), ABCB6 (1), SALL2 (1) 0.66667 1.00000 2.135e-15 3.133e-14 25 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 3.133e-14 90 Apert syndrome Warburg micro syndrome 4 4 RAB18 (6), RAB3GAP1 (5), RAB3GAP2 (5), TBC1D20 (5) 0.66667 1.00000 2.135e-15 3.133e-14 90 Glycinuria with/without oxalate urolithiasis Iminoglycinuria 4 3 SLC36A1 (1), SLC36A2 (6), SLC6A19 (2), SLC6A20 (3) 0.66667 1.00000 2.135e-15 3.133e-14 Hereditary hyperekplexia Hyperexplexia hereditary 4 4 GPHN (4), SLC6A5 (4), GLRA1 (4), GLRB (3) 0.66667 1.00000 2.135e-15 3.133e-14 322 Hyperekplexia Hyperexplexia hereditary 4 4 GPHN (4), SLC6A5 (6), GLRA1 (4), GLRB (5) 0.66667 1.00000 2.135e-15 3.133e-14 322 Paroxysmal dyskinesia Paroxysmal dystonic choreoathetosis 4 3 SLC2A1 (1), KCNJ10 (2), PRRT2 (2), KCNA1 (2) 0.66667 1.00000 2.135e-15 3.133e-14 85 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 3.031e-14 3 Perisylvian syndrome Polymicrogyria 6 5 CCND2 (2), PI4KA (2), ADGRG1 (3), SRPX2 (2), TUBB2B (2), SCN3A (1) 0.20000 0.60000 2.002e-15 2.956e-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 2.920e-14 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 2.903e-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 2.894e-14 149 Digeorge syndrome Velocardiofacial syndrome 5 5 TBX1 (6), DGCR8 (4), DGCR2 (4), DGCR6 (4), ESS2 (4) 0.25000 1.00000 1.613e-15 2.388e-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 2.361e-14 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 2.354e-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 2.264e-14 36 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 2.251e-14 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 2.173e-14 242 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 2.156e-14 1 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 2.151e-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 2.114e-14 182 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 2.010e-14 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 2.007e-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 2.007e-14 323 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 1.991e-14 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 1.817e-14 4 Congenital nemaline myopathy Nemaline myopathy 5 5 ACTA1 (3), LMOD3 (7), NEB (7), KLHL41 (7), KLHL40 (6) 0.26316 1.00000 1.189e-15 1.777e-14 162 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 1.774e-14 66 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 1.698e-14 137 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 1.682e-14 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 1.654e-14 Essential thrombocythemia Thrombocythemia 5 5 SH2B3 (4), MPL (6), THPO (4), JAK2 (6), CALR (4) 0.33333 0.83333 1.071e-15 1.607e-14 98 Essential thrombocythemia Thrombocytosis 5 5 SH2B3 (3), MPL (4), THPO (4), JAK2 (3), CALR (3) 0.33333 0.83333 1.071e-15 1.607e-14 98 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 1.604e-14 31 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 1.570e-14 66 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 1.535e-14 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 1.443e-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 1.409e-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 1.373e-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 1.290e-14 36 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 1.228e-14 Anophthalmia Colobomatous microphthalmia 6 6 SOX2 (3), STRA6 (3), OTX2 (2), RAX (3), VSX2 (2), RBP4 (2) 0.25000 0.42857 8.094e-16 1.223e-14 52 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 1.187e-14 4 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 1.167e-14 136 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 1.162e-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 1.159e-14 4 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 1.081e-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 1.051e-14 22 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 9.530e-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 9.211e-15 258 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 8.048e-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 8.017e-15 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 8.016e-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 7.931e-15 19 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 7.721e-15 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 7.505e-15 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 7.340e-15 57 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 7.067e-15 51 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 7.067e-15 103 Paraganglioma Pheochromocytoma/paraganglioma syndrome 5 5 SDHB (5), SDHD (5), SDHA (5), SDHC (4), SDHAF2 (4) 0.41667 0.62500 4.348e-16 6.658e-15 78 Nephrogenic diabetes insipidus Neurogenic diabetes insipidus 4 4 AVP (5), PRKCA (2), AQP2 (5), AVPR2 (6) 0.80000 1.00000 4.271e-16 6.545e-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 6.545e-15 39 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 6.545e-15 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 6.545e-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 6.545e-15 90 Congenital mirror movements Mirror movements 4 4 DCC (7), RAD51 (6), NTN1 (5), DNAL4 (6) 0.80000 1.00000 4.271e-16 6.545e-15 430 De toni-debre-fanconi syndrome Fanconi renotubular syndrome 4 4 GATM (5), EHHADH (5), NDUFAF6 (4), SLC34A1 (5) 0.80000 1.00000 4.271e-16 6.545e-15 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 6.515e-15 242 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 6.452e-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 6.452e-15 8 Coloboma Congenital iris coloboma 5 3 PAX6 (4), ACTG1 (2), FZD5 (1), ABCB6 (1), SALL2 (2) 0.31250 1.00000 4.166e-16 6.431e-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 6.431e-15 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 6.165e-15 50 Congenital hyperinsulinism Hyperinsulinemic hypoglycemia 5 5 HADH (5), ABCC8 (4), KCNJ11 (5), GCK (3), GLUD1 (3) 0.38462 0.83333 3.844e-16 5.948e-15 35 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 5.812e-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 5.812e-15 46 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 5.689e-15 198 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 5.397e-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 5.397e-15 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 5.195e-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 5.076e-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 4.822e-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 4.623e-15 13 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 4.553e-15 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 4.524e-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 4.428e-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 4.406e-15 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 4.343e-15 35 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 3.901e-15 149 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 3.815e-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 3.815e-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 3.815e-15 13 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 3.752e-15 34 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 3.677e-15 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 3.646e-15 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 3.538e-15 20 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 3.495e-15 2 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 3.475e-15 3 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 3.458e-15 54 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 3.430e-15 41 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 3.310e-15 289 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 3.256e-15 136 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 3.038e-15 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 2.951e-15 Kleins syndrome Waardenburg syndrome 5 5 EDNRB (7), PAX3 (6), KITLG (5), MITF (7), EDN3 (7) 0.35714 1.00000 1.785e-16 2.827e-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 2.827e-15 49 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 2.769e-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 2.689e-15 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 2.592e-15 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 2.592e-15 149 hereditary pheochromocytoma-paraganglioma Paraganglioma 5 5 SDHB (4), SDHD (4), SDHA (2), SDHC (4), SDHAF2 (3) 0.45455 0.71429 1.631e-16 2.592e-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 2.592e-15 78 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 2.491e-15 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 2.380e-15 52 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 2.248e-15 13 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 2.231e-15 2 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 2.116e-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 2.020e-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 2.012e-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 1.993e-15 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 1.945e-15 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 1.890e-15 3 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 1.834e-15 59 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 1.798e-15 198 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 1.766e-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 1.766e-15 113 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 1.764e-15 13 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 1.697e-15 52 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 1.691e-15 425 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 1.647e-15 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 1.601e-15 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 1.571e-15 4 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 1.452e-15 103 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 1.433e-15 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 1.431e-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 1.228e-15 51 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 1.228e-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 1.225e-15 52 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 1.182e-15 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 1.053e-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 1.043e-15 49 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 1.043e-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 1.019e-15 133 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 9.567e-16 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 9.275e-16 4 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 9.169e-16 35 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 8.888e-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 8.489e-16 210 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 8.431e-16 3 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 8.123e-16 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 7.727e-16 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 7.652e-16 284 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 7.475e-16 2 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 7.277e-16 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 7.041e-16 49 Polycythemia Secondary polycythemia 6 6 HBA1 (3), EPO (4), HBB (3), EPAS1 (3), VHL (2), EGLN1 (3) 0.27273 0.75000 4.102e-17 6.756e-16 24 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 6.348e-16 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 6.187e-16 75 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 6.158e-16 2 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 6.000e-16 232 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 5.781e-16 371 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 5.633e-16 35 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 5.227e-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 5.227e-16 6 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 4.771e-16 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 4.717e-16 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 4.066e-16 136 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 3.908e-16 241 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 3.840e-16 75 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 3.838e-16 100 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 3.838e-16 49 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 3.838e-16 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 3.837e-16 62 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 3.830e-16 149 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 3.795e-16 156 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 3.607e-16 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 3.500e-16 22 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 3.454e-16 136 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 3.451e-16 2 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 3.115e-16 34 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 3.090e-16 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 3.062e-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 3.021e-16 3 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 2.981e-16 4 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 2.808e-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 2.588e-16 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 2.465e-16 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 2.278e-16 136 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 2.192e-16 41 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 2.185e-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 2.126e-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 1.676e-16 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 1.506e-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 1.506e-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 1.477e-16 4 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 1.446e-16 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 1.443e-16 46 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 1.425e-16 73 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 1.391e-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 1.359e-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 1.326e-16 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 1.304e-16 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 1.265e-16 8 Generalized lipodystrophy Lipodystrophy 6 6 PPARG (4), CAV1 (5), BSCL2 (5), CAVIN1 (5), AGPAT2 (5), PCYT1A (3) 0.30000 0.85714 7.022e-18 1.202e-16 79 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 1.190e-16 6 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 1.182e-16 89 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 1.166e-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 1.148e-16 20 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 1.092e-16 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 1.029e-16 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 1.009e-16 46 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 9.834e-17 6 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 9.552e-17 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 9.362e-17 Thrombocythemia Thrombocytosis 5 5 SH2B3 (4), MPL (7), THPO (7), JAK2 (6), CALR (4) 0.62500 0.83333 4.994e-18 8.626e-17 98 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 8.507e-17 4 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 8.345e-17 75 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 8.230e-17 19 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 8.122e-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 8.120e-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 8.120e-17 390 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 7.892e-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 7.701e-17 2 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 7.539e-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 7.375e-17 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 6.378e-17 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 5.682e-17 67 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 5.289e-17 40 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 5.289e-17 390 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 5.135e-17 238 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 5.099e-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 5.099e-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 5.099e-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 5.099e-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 5.099e-17 174 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 5.024e-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 4.844e-17 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 4.266e-17 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 4.183e-17 8 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 3.334e-17 296 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 3.196e-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 3.050e-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 2.956e-17 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 2.908e-17 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 2.847e-17 36 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 2.478e-17 119 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 2.437e-17 2 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 2.401e-17 36 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 2.392e-17 46 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 2.124e-17 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 1.813e-17 19 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 1.789e-17 229 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 1.716e-17 232 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 1.682e-17 172 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 1.658e-17 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 1.500e-17 32 Digitotalar dysmorphism Sheldon-hall syndrome 5 5 MYH3 (2), TPM2 (3), NALCN (2), TNNI2 (3), TNNT3 (3) 0.71429 1.00000 8.323e-19 1.489e-17 258 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 1.474e-17 54 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 1.469e-17 2 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 1.466e-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 1.408e-17 198 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 1.397e-17 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 1.397e-17 180 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 1.284e-17 8 Hypotrichosis Woolly hair 6 5 KRT25 (6), KRT71 (6), KRT74 (5), RB1 (1), LIPH (5), LPAR6 (6) 0.33333 1.00000 6.692e-19 1.206e-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 1.206e-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 1.170e-17 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 1.116e-17 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 9.193e-18 2 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 8.174e-18 377 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 7.842e-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 7.842e-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 6.918e-18 273 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 6.801e-18 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 6.784e-18 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 6.664e-18 127 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 6.664e-18 127 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 6.641e-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 6.600e-18 98 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 6.382e-18 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 5.614e-18 52 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 5.420e-18 20 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 4.917e-18 36 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 4.846e-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 4.723e-18 51 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 4.692e-18 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 4.681e-18 66 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 4.549e-18 35 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 4.199e-18 313 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 4.092e-18 232 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 3.963e-18 41 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 3.554e-18 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 3.469e-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 3.300e-18 4 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 3.283e-18 4 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 3.177e-18 62 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 3.009e-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 3.009e-18 102 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 2.797e-18 36 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 2.784e-18 11 Hereditary hyperekplexia Hyperekplexia 5 5 GPHN (5), SLC6A5 (7), GLRA1 (5), ATAD1 (6), GLRB (5) 0.83333 1.00000 1.387e-19 2.579e-18 322 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 2.579e-18 87 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 2.579e-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 2.579e-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 2.579e-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 2.579e-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 2.579e-18 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 2.505e-18 4 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 2.505e-18 4 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 2.419e-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 2.402e-18 41 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 2.351e-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 2.314e-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 2.166e-18 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 2.161e-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 2.129e-18 229 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 2.121e-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 2.117e-18 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 2.004e-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 1.928e-18 4 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 1.908e-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 1.834e-18 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 1.746e-18 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 1.508e-18 149 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 1.489e-18 4 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 1.431e-18 2 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 1.376e-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 1.357e-18 46 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 1.274e-18 31 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 1.212e-18 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 1.189e-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 1.149e-18 3 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 1.062e-18 2 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 9.345e-19 41 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 9.319e-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 8.872e-19 31 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 8.298e-19 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 8.149e-19 32 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 7.993e-19 237 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 7.949e-19 52 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 7.739e-19 31 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 7.690e-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 7.405e-19 137 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 7.058e-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 6.419e-19 46 Male infertility globozoospermia Male infertility round headed spermatozoa 6 6 PICK1 (3), SPATA16 (2), SEPTIN4 (2), DPY19L2 (3), ZPBP (2), GGN (2) 0.54545 0.85714 3.179e-20 6.157e-19 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 5.944e-19 11 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 5.460e-19 51 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 4.692e-19 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 4.658e-19 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 4.120e-19 66 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 4.109e-19 20 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 4.021e-19 46 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 3.981e-19 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 3.802e-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 3.707e-19 149 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 3.507e-19 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 3.465e-19 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 3.300e-19 2 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 3.282e-19 2 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 3.097e-19 3 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 3.028e-19 100 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 2.711e-19 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 2.568e-19 16 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 2.547e-19 11 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 2.456e-19 39 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 2.429e-19 337 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 2.337e-19 390 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 2.247e-19 301 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 2.055e-19 12 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 1.901e-19 22 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 1.817e-19 8 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 1.788e-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 1.778e-19 2 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 1.557e-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 1.453e-19 8 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 1.390e-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 1.184e-19 41 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 1.152e-19 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 1.052e-19 2 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 9.704e-20 3 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 9.282e-20 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 9.158e-20 62 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 8.415e-20 131 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 8.358e-20 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 8.053e-20 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 7.940e-20 52 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 7.238e-20 182 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 6.687e-20 309 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 6.130e-20 35 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 5.196e-20 3 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 4.893e-20 52 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 4.084e-20 377 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 4.084e-20 36 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 3.969e-20 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 3.753e-20 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 3.305e-20 3 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 3.082e-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 3.082e-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 3.082e-20 14 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 3.069e-20 372 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 2.972e-20 8 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 2.913e-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 2.913e-20 51 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 2.864e-20 52 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 2.836e-20 372 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 2.728e-20 41 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 2.666e-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 2.613e-20 34 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 2.589e-20 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 2.579e-20 20 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 2.566e-20 237 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 2.559e-20 173 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 2.008e-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 1.873e-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 1.829e-20 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 1.655e-20 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 1.649e-20 94 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 1.626e-20 1 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 1.398e-20 9 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 1.074e-20 8 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 9.561e-21 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 9.509e-21 73 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 8.939e-21 296 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 7.910e-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 7.910e-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 7.910e-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 7.910e-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 7.910e-21 102 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 7.826e-21 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 7.665e-21 4 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 7.461e-21 41 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 6.408e-21 9 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 5.764e-21 16 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 5.144e-21 13 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 4.862e-21 47 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 4.745e-21 22 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 4.714e-21 4 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 4.543e-21 4 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 4.232e-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 4.232e-21 8 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 4.005e-21 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 3.776e-21 32 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 3.771e-21 16 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 3.374e-21 40 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 3.309e-21 31 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 2.786e-21 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 2.465e-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 2.366e-21 51 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 2.346e-21 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 2.216e-21 97 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 2.048e-21 50 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 2.012e-21 2 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 1.862e-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 1.818e-21 102 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 1.741e-21 8 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 1.718e-21 80 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 1.617e-21 337 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 1.537e-21 8 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 1.328e-21 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 1.290e-21 20 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 1.260e-21 73 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 1.196e-21 46 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 1.176e-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 1.176e-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 1.176e-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 1.176e-21 260 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 1.176e-21 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 1.167e-21 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 1.126e-21 4 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 1.117e-21 49 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 1.059e-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 1.025e-21 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 9.923e-22 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 9.306e-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 9.306e-22 40 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 9.301e-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 9.301e-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 9.301e-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 9.301e-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 9.301e-22 61 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 9.240e-22 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 8.594e-22 14 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 7.607e-22 50 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 7.454e-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 7.454e-22 20 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 6.972e-22 34 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 6.395e-22 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 6.090e-22 89 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 6.075e-22 3 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 5.847e-22 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 5.286e-22 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 4.989e-22 14 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 4.579e-22 180 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 4.487e-22 77 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 4.377e-22 26 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 4.241e-22 3 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 4.176e-22 40 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 4.109e-22 52 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 3.379e-22 24 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 3.301e-22 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 3.278e-22 94 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 3.278e-22 94 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 2.844e-22 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 2.766e-22 35 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 2.640e-22 4 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 2.598e-22 103 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 2.583e-22 39 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 2.330e-22 3 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 2.197e-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 2.197e-22 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 2.087e-22 133 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 1.859e-22 411 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 1.591e-22 4 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 1.570e-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 1.451e-22 2 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 1.436e-22 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 1.374e-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 1.328e-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 1.288e-22 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 1.278e-22 7 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 1.251e-22 4 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 1.228e-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 1.228e-22 172 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 1.212e-22 3 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 1.173e-22 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 1.171e-22 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 9.966e-23 2 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 9.579e-23 5 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 9.456e-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 9.456e-23 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 9.398e-23 51 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 9.143e-23 41 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 8.646e-23 13 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 6.734e-23 50 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 5.621e-23 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 5.477e-23 135 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 5.052e-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 5.052e-23 19 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 4.615e-23 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 4.335e-23 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 4.304e-23 16 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 3.991e-23 7 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 3.917e-23 180 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 3.823e-23 94 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 3.741e-23 284 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 3.741e-23 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 3.333e-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 3.013e-23 2 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 2.959e-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 2.942e-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 2.942e-23 50 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 2.942e-23 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 2.841e-23 2 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 2.813e-23 8 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 2.784e-23 46 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 2.682e-23 2 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 2.653e-23 2 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 2.436e-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 2.426e-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 2.426e-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 2.426e-23 13 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 2.422e-23 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 2.173e-23 34 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 2.151e-23 118 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 1.882e-23 50 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 1.802e-23 35 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 1.794e-23 3 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 1.593e-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 1.462e-23 8 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 1.424e-23 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 1.411e-23 54 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 1.208e-23 24 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 1.173e-23 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 1.170e-23 6 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 1.099e-23 14 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 8.942e-24 35 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 8.927e-24 137 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 8.843e-24 50 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 8.578e-24 309 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 8.033e-24 2 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 7.956e-24 92 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 7.710e-24 144 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 7.597e-24 2 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 7.357e-24 4 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 7.087e-24 256 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 5.875e-24 239 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 4.911e-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 4.911e-24 411 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 4.835e-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 4.668e-24 21 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 4.252e-24 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 3.868e-24 152 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 3.862e-24 4 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 3.726e-24 232 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 3.400e-24 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 3.386e-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 3.342e-24 31 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 3.339e-24 2 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 3.273e-24 4 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 2.539e-24 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 2.530e-24 133 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 2.216e-24 238 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 1.898e-24 26 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 1.555e-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 1.555e-24 35 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 1.484e-24 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 1.482e-24 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 1.458e-24 94 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 1.458e-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 1.458e-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 1.458e-24 256 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 1.381e-24 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 1.223e-24 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 1.191e-24 4 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 1.168e-24 5 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 1.153e-24 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 9.937e-25 329 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 9.937e-25 353 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 8.860e-25 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 8.224e-25 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 7.785e-25 4 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 7.617e-25 2 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 7.530e-25 6 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 6.799e-25 26 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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-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 6.430e-25 61 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 6.262e-25 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 4.555e-25 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 4.423e-25 24 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 4.156e-25 73 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 3.564e-25 2 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 3.142e-25 3 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 2.641e-25 339 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 2.237e-25 2 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 1.955e-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 1.936e-25 16 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 1.936e-25 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 1.721e-25 94 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 1.543e-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 1.543e-25 44 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 1.514e-25 82 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 1.300e-25 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 1.278e-25 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 9.958e-26 79 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 9.030e-26 232 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 7.975e-26 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 7.382e-26 34 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 6.105e-26 7 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 5.820e-26 337 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 5.820e-26 51 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 5.820e-26 411 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 5.760e-26 4 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 5.252e-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 5.252e-26 133 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 4.460e-26 9 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 4.023e-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 3.896e-26 22 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 3.719e-26 3 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 3.595e-26 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 3.349e-26 7 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 3.337e-26 51 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 3.299e-26 232 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 3.003e-26 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 2.935e-26 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 2.919e-26 94 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 2.422e-26 2 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 1.952e-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 1.819e-26 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 1.816e-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 1.727e-26 39 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 1.637e-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 1.443e-26 6 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 1.277e-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 1.277e-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 1.248e-26 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 1.068e-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 1.066e-26 46 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 9.838e-27 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 8.478e-27 44 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 8.034e-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 7.364e-27 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 7.030e-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 6.911e-27 50 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 6.144e-27 26 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 4.886e-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 4.710e-27 4 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 3.950e-27 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 3.373e-27 3 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 3.351e-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 3.351e-27 94 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 2.809e-27 5 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 2.785e-27 3 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 2.649e-27 100 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 2.649e-27 175 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 2.622e-27 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 2.384e-27 46 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 1.983e-27 50 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 1.791e-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 1.596e-27 3 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 1.547e-27 26 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 1.429e-27 26 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 1.260e-27 6 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 1.084e-27 25 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 9.616e-28 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 8.063e-28 26 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 6.163e-28 4 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 5.923e-28 7 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 5.388e-28 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 4.927e-28 256 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 4.604e-28 2 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 4.498e-28 232 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 3.912e-28 3 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 3.853e-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 3.853e-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 3.853e-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 3.853e-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 3.853e-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 3.853e-28 64 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 2.449e-28 19 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 2.149e-28 3 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 2.019e-28 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 1.902e-28 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 1.818e-28 10 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 1.778e-28 26 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 1.597e-28 16 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 1.310e-28 4 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 1.174e-28 4 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 6.341e-29 47 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 6.015e-29 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 5.744e-29 131 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 5.715e-29 3 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 5.096e-29 232 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 4.744e-29 288 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 4.476e-29 5 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 4.325e-29 232 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 2.892e-29 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 2.886e-29 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 2.337e-29 256 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 2.077e-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 2.038e-29 2 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 1.886e-29 309 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 1.715e-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 1.541e-29 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 1.348e-29 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 1.308e-29 7 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 1.301e-29 9 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 1.230e-29 51 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 1.221e-29 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 1.106e-29 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 1.031e-29 309 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 1.023e-29 160 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 8.719e-30 73 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 7.863e-30 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 7.077e-30 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 6.882e-30 309 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 4.879e-30 3 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 3.413e-30 3 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 3.317e-30 13 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 3.080e-30 26 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 2.963e-30 49 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 2.563e-30 16 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 2.559e-30 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 2.428e-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 2.428e-30 256 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 2.428e-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 2.428e-30 256 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 2.128e-30 49 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 1.900e-30 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 1.328e-30 2 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 1.315e-30 2 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 1.229e-30 149 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 1.222e-30 36 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 1.198e-30 103 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 1.124e-30 2 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 1.087e-30 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 7.732e-31 10 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 7.458e-31 50 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 7.113e-31 50 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 6.980e-31 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 5.888e-31 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 5.086e-31 131 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 4.529e-31 2 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 4.143e-31 35 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 3.429e-31 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 2.916e-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 2.916e-31 2 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 2.800e-31 3 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 2.526e-31 331 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 2.526e-31 256 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 2.526e-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 2.526e-31 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 2.207e-31 14 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 1.709e-31 49 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 1.562e-31 303 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 1.443e-31 14 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 1.235e-31 20 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 9.716e-32 4 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 9.599e-32 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 9.364e-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 6.370e-32 41 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 5.770e-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 5.331e-32 16 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 3.765e-32 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 3.293e-32 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 3.192e-32 3 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 2.538e-32 20 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 2.493e-32 16 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 2.371e-32 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 2.362e-32 6 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 2.142e-32 87 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 2.077e-32 3 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 1.946e-32 52 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 1.214e-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 1.119e-32 6 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 1.006e-32 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 8.257e-33 50 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 7.844e-33 16 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 5.715e-33 13 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 5.513e-33 3 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 4.998e-33 6 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 4.785e-33 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 4.173e-33 2 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 3.530e-33 26 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 3.404e-33 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 2.933e-33 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 2.605e-33 26 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 2.201e-33 3 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 2.017e-33 51 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 1.789e-33 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 1.613e-33 309 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 1.547e-33 34 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 1.300e-33 16 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 1.029e-33 390 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 8.181e-34 11 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 7.466e-34 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 7.148e-34 50 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 6.910e-34 3 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 5.196e-34 4 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 5.190e-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 5.190e-34 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 4.796e-34 7 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 4.789e-34 2 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 4.337e-34 3 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 4.110e-34 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 3.620e-34 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 3.387e-34 16 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 3.362e-34 89 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 3.138e-34 223 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 2.870e-34 4 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 2.497e-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 2.497e-34 73 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 2.232e-34 31 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 2.117e-34 11 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 1.901e-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 1.841e-34 396 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 1.455e-34 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 1.401e-34 23 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 1.401e-34 23 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 1.074e-34 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 7.998e-35 2 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 7.736e-35 133 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 6.909e-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 6.909e-35 20 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 6.638e-35 51 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 5.968e-35 22 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 5.378e-35 4 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 5.141e-35 63 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 4.951e-35 73 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 3.505e-35 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 3.488e-35 31 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 1.490e-35 62 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 1.350e-35 133 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 7.973e-36 16 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 6.533e-36 160 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 3.889e-36 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 3.598e-36 3 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 3.224e-36 4 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 2.670e-36 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 2.538e-36 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 2.273e-36 47 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 2.097e-36 89 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 1.739e-36 14 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 1.504e-36 6 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 1.462e-36 50 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 1.168e-36 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 1.162e-36 31 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 9.592e-37 31 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 9.378e-37 3 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 8.700e-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 8.145e-37 131 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 4.837e-37 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 2.542e-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 2.324e-37 141 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 1.846e-37 2 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 1.389e-37 2 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 1.235e-37 182 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 1.074e-37 35 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 1.068e-37 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 9.274e-38 14 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 7.768e-38 89 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 7.344e-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 6.686e-38 309 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 5.944e-38 57 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 5.380e-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 4.083e-38 19 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 3.215e-38 4 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 2.908e-38 2 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 2.882e-38 223 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 2.484e-38 4 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 1.903e-38 211 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 1.855e-38 8 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 1.505e-38 2 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 1.043e-38 291 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 9.206e-39 73 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 8.651e-39 19 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 5.857e-39 288 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 4.566e-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 3.140e-39 11 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 2.956e-39 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 2.658e-39 26 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 2.558e-39 19 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 2.437e-39 50 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 1.521e-39 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 1.360e-39 52 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 8.507e-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 8.507e-40 153 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 8.193e-40 50 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 6.583e-40 7 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 6.406e-40 13 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 5.520e-40 34 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 4.785e-40 20 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 1.797e-40 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 1.111e-40 110 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 8.663e-41 4 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 7.931e-41 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 5.504e-41 16 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 5.488e-41 3 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 3.580e-41 1 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 1.599e-41 124 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 1.389e-41 238 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 1.386e-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 1.295e-41 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 1.124e-41 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 9.234e-42 4 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 8.012e-42 14 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 7.851e-42 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 7.723e-42 390 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 7.175e-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 7.175e-42 110 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 6.504e-42 3 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 6.249e-42 8 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 4.952e-42 62 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 3.156e-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 3.156e-42 2 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 2.049e-42 129 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 1.414e-42 3 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 1.283e-42 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 1.071e-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 1.071e-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 1.071e-42 124 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 5.090e-43 391 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 3.359e-43 3 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 2.424e-43 8 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 1.769e-43 40 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 1.769e-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 1.769e-43 110 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 1.757e-43 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 1.667e-43 223 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 1.206e-43 51 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 1.095e-43 153 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 9.204e-44 127 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 9.204e-44 127 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 5.202e-44 8 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 3.862e-44 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 3.816e-44 288 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 2.266e-44 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 9.736e-45 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 7.218e-45 50 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 3.065e-45 2 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 1.971e-45 31 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 1.910e-45 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 1.558e-45 13 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 1.307e-45 110 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 5.805e-46 10 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 4.510e-46 8 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 3.933e-46 3 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 2.615e-46 34 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 2.197e-46 4 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 1.344e-46 13 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 1.093e-46 110 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 1.047e-46 23 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 1.023e-46 3 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 8.370e-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 8.370e-47 110 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 8.365e-47 73 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 4.934e-47 16 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 4.821e-47 52 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 3.525e-47 124 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 2.760e-47 2 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 2.343e-47 288 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 1.935e-47 20 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 1.337e-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 1.305e-47 57 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 1.236e-47 16 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 9.176e-48 391 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 6.317e-48 124 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 6.317e-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 6.317e-48 124 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 5.511e-48 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 8.787e-49 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 5.622e-49 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 5.082e-49 20 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 4.859e-49 2 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 4.750e-49 2 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 3.168e-49 7 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 2.831e-49 3 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 2.273e-49 2 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 1.907e-49 7 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 1.436e-49 7 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 1.097e-49 110 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 4.471e-50 4 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 1.733e-50 2 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 1.539e-50 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 8.561e-51 6 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 4.240e-51 129 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 3.374e-51 124 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 3.374e-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 3.374e-51 124 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 2.364e-51 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 1.198e-51 16 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 1.001e-51 20 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 9.732e-52 2 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 2.485e-52 19 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 2.285e-52 22 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 1.614e-52 34 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 7.150e-53 19 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 5.698e-53 2 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 5.155e-53 7 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 2.795e-53 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 2.754e-53 182 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 5.956e-54 11 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 4.718e-54 3 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 4.612e-54 6 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 2.189e-54 137 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 2.054e-54 2 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 1.617e-54 92 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 1.188e-54 14 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 3.285e-55 50 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 1.503e-55 6 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 1.367e-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 1.367e-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 1.367e-55 124 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 1.226e-55 3 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 1.005e-55 263 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 3.479e-56 320 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 1.562e-56 34 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 1.392e-56 182 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 9.909e-57 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 6.580e-57 2 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 5.070e-57 2 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 2.630e-57 3 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 1.464e-57 75 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 1.193e-57 41 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 1.135e-57 7 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 1.105e-57 16 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 1.078e-57 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 4.669e-58 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 1.013e-58 7 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 5.279e-59 2 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 3.502e-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 2.847e-59 19 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 2.642e-59 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 6.032e-60 47 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 5.969e-60 14 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 4.071e-60 3 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 3.986e-60 2 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 3.938e-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 2.278e-60 6 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 1.710e-60 2 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 1.522e-60 51 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 4.009e-61 3 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 3.297e-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 3.122e-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 2.185e-61 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 1.711e-61 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 1.454e-61 136 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 7.631e-62 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 7.429e-62 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 3.578e-62 136 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 3.042e-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 1.815e-62 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 1.341e-62 2 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 7.237e-63 320 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 5.259e-63 72 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 4.079e-63 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 3.172e-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 2.452e-63 73 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 1.079e-63 14 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 7.742e-64 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 7.741e-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 7.741e-64 127 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 3.685e-64 223 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 1.839e-64 182 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 1.078e-64 34 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 1.076e-64 34 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 3.825e-65 3 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 3.239e-65 50 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 2.396e-65 14 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 4.623e-66 182 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 2.546e-66 62 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 1.346e-66 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 2.999e-67 124 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 9.176e-68 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 6.979e-68 288 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 3.128e-68 9 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 2.579e-68 31 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 1.295e-68 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 9.996e-69 21 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 9.226e-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 9.226e-69 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 3.656e-70 16 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 2.722e-70 34 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 2.646e-70 131 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 1.730e-70 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 5.721e-71 6 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 1.171e-71 47 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 7.039e-72 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 4.395e-72 2 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 2.525e-72 180 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 2.239e-72 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 1.735e-72 34 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 1.096e-72 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 1.056e-73 2 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 1.001e-73 47 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 2.966e-74 62 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 2.201e-75 5 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 5.667e-76 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 2.579e-76 182 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 1.937e-76 16 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 1.479e-76 3 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 1.990e-77 47 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 5.741e-78 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 3.036e-78 6 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 2.497e-78 13 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 2.096e-79 391 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 8.599e-80 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 6.515e-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 6.515e-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 6.515e-80 13 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 2.159e-80 2 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 1.982e-80 2 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 1.943e-80 20 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 1.943e-80 20 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 1.053e-80 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 6.286e-81 34 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 1.218e-81 31 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 4.647e-82 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 4.359e-82 16 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 3.841e-82 47 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 1.526e-82 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 8.670e-83 58 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 8.444e-83 47 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 4.526e-83 291 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 1.876e-84 16 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 3.245e-85 2 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 2.949e-85 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 1.073e-85 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 1.541e-86 63 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 4.987e-87 58 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 3.272e-87 58 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 2.835e-87 133 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 1.559e-87 16 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 4.292e-88 16 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 3.676e-88 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 3.191e-88 44 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 2.142e-88 58 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 1.894e-88 31 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 3.287e-89 31 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 6.706e-90 16 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 1.433e-90 47 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 1.201e-90 58 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 6.483e-91 73 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 4.065e-91 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 2.583e-91 13 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 1.716e-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 1.716e-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 1.716e-91 58 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 1.495e-91 2 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 5.072e-92 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 4.857e-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 4.857e-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 4.857e-92 58 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 3.845e-92 58 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 1.657e-92 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 6.469e-93 14 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 5.426e-93 13 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 3.589e-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 3.370e-93 14 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 3.231e-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 3.231e-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 3.231e-93 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 7.451e-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 7.451e-94 58 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 7.451e-94 58 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 3.720e-94 6 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 3.336e-94 7 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 1.470e-94 13 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 1.470e-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 1.470e-94 13 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 5.614e-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 1.983e-95 180 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 9.980e-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 7.501e-96 47 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 6.666e-96 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 6.044e-96 7 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 7.408e-97 20 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 1.052e-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 1.052e-97 58 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 1.052e-97 58 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 1.976e-98 31 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 1.117e-98 72 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 9.134e-99 291 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 7.344e-99 180 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 5.829e-99 6 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 3.099e-99 304 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 2.933e-99 238 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 1.590e-99 34 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 1.124e-99 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 1.051e-99 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 7.146e-100 47 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 4.370e-100 3 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 6.512e-101 14 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 1.886e-101 8 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 1.326e-101 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 1.575e-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 1.575e-102 58 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 1.575e-102 58 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 7.372e-104 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 5.673e-104 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 4.989e-104 47 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 4.443e-104 47 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 1.482e-104 31 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 1.399e-104 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 5.444e-105 304 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 2.091e-105 62 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 3.323e-106 136 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 2.766e-106 366 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 6.835e-107 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 3.602e-107 47 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 1.761e-107 2 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 4.005e-108 72 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 6.090e-109 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 5.464e-111 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 2.196e-111 13 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 2.196e-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 2.196e-111 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 2.020e-112 72 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 5.782e-113 13 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 5.782e-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 5.782e-113 13 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 3.992e-114 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 1.889e-115 2 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 1.028e-115 2 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 1.633e-116 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 3.882e-118 3 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 2.533e-121 16 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 2.272e-121 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 1.540e-121 13 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 5.878e-123 242 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 1.484e-125 3 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 1.264e-125 14 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 3.012e-127 72 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 2.711e-128 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 1.343e-129 2 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 5.910e-130 2 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 2.254e-130 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 1.349e-130 6 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 4.715e-131 47 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 8.796e-133 34 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 1.328e-133 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 3.043e-134 47 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 1.829e-136 31 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 8.487e-137 16 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 2.829e-137 47 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 6.839e-139 21 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 3.626e-139 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 5.146e-140 129 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 7.525e-141 127 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 2.111e-143 304 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 1.123e-144 72 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 2.880e-146 6 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 2.655e-147 14 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 1.615e-148 14 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 3.488e-149 21 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 1.652e-149 72 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 1.070e-149 72 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 7.171e-150 2 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 1.275e-150 31 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 2.391e-151 21 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 7.003e-153 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 1.121e-153 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 2.351e-155 31 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 6.114e-157 31 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 4.705e-157 2 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 1.480e-158 14 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 6.134e-159 6 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 5.594e-159 72 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 4.877e-159 2 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 2.337e-159 62 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 7.121e-160 14 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 3.405e-160 75 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 4.915e-161 2 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 5.429e-163 72 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 3.451e-164 21 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 3.508e-165 21 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 1.327e-165 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 6.511e-167 72 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 6.042e-168 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 5.144e-170 21 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 8.109e-171 72 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 2.035e-171 31 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 6.732e-173 239 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 7.818e-174 75 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 6.360e-175 72 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 1.878e-177 16 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 6.710e-178 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 4.398e-178 75 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 1.287e-178 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 2.732e-179 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 1.753e-179 21 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 3.609e-181 31 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 1.127e-181 2 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 3.089e-182 21 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 1.379e-183 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 1.141e-184 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 9.892e-186 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 5.098e-186 21 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 3.488e-186 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 2.097e-186 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 4.823e-189 72 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 2.863e-189 72 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 1.471e-189 21 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 1.369e-189 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 1.119e-189 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 2.938e-190 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 1.237e-192 21 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 7.949e-195 21 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 1.604e-195 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 8.071e-198 72 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 2.283e-198 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 2.333e-199 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 6.630e-202 72 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 1.047e-203 21 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 1.632e-204 21 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 1.127e-204 14 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 8.074e-205 7 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 2.844e-205 21 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 1.164e-206 72 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 1.139e-207 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 1.330e-210 31 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 3.297e-211 14 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 4.234e-213 72 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 3.619e-218 72 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 2.890e-218 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 9.608e-220 31 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 1.550e-220 21 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 9.957e-221 34 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 8.069e-221 72 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 8.888e-226 21 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 1.535e-228 6 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 7.066e-232 320 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 1.169e-233 72 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 6.483e-234 31 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 1.265e-235 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 7.168e-244 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 1.294e-245 2 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 5.065e-246 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 7.677e-247 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 1.196e-251 14 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 7.957e-252 14 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 1.312e-258 21 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 1.033e-258 21 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 1.507e-260 14 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 9.218e-265 34 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 1.166e-265 320 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 1.821e-287 73 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 2.548e-294 288 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 6.962e-304 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 1.437e-306 2 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 1.090e-311 21 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 4.134e-318 21 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 2.136e-319 320 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 4.429e-320 14 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