AVDB

Search By Disorder

Disorder Gene Allele Count Allele Frequency Carrier Frequency Max At-Risk Couples In Panel
GABA-transaminase deficiency ABAT 1 0.00041876 0.00083717 0.000000701

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Ichthyosis ABCA12 16 0.00670017 0.0133106 0.000177171

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Retinal dystrophy ABCA4 53 0.0221943 0.0434034 0.00188386

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Pseudoxanthoma elasticum ABCC6 11 0.00460637 0.00917029 0.0000841

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Hyperinsulinism ABCC8 1 0.00041876 0.00083717 0.000000701

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Sitosterolemia 1 ABCG8 10 0.0041876 0.00834014 0.0000696

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Isobutyryl-CoA dehydrogenase deficiency ACAD8 2 0.000837521 0.00167364 0.0000028

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Acyl-CoA dehydrogenase ACADM 1 0.00041876 0.00083717 0.000000701

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Short-chain acyl-CoA-dehydrogenase deficiency ACADS 5 0.0020938 0.00417884 0.0000175

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Inborn error of metabolism ACADSB 2 0.000837521 0.00167364 0.0000028

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Very long chain acyl-CoA dehydrogenase deficiency ACADVL 3 0.00125628 0.00250941 0.0000063

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Optic atrophy 9 ACO2 2 0.000837521 0.00167364 0.0000028

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Adenosine deaminase deficiency ADA 1 0.00041876 0.00083717 0.000000701

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Sneddon syndrome ADA2 4 0.00167504 0.00334447 0.0000112

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Reduced expression ADAMTS13 1 0.00041876 0.00083717 0.000000701

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Weill-Marchesani syndrome ADAMTS17 2 0.000837521 0.00167364 0.0000028

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Microcornea, myopic chorioretinal atrophy and telecanthus ADAMTS18 3 0.00125628 0.00250941 0.0000063

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Deafness, non-syndromic, autosomal recessive ADGRV1 2 0.000837521 0.00167364 0.0000028

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Sengers syndrome AGK 6 0.00251256 0.0050125 0.0000251

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Glycogen storage disease 3 AGL 2 0.000837521 0.00167364 0.0000028

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Congenital myasthenic syndrome with distal muscle weakness & atrophy AGRN 2 0.000837521 0.00167364 0.0000028

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Hyperoxaluria AGXT 4 0.00167504 0.00334447 0.0000112

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Joubert syndrome AHI1 2 0.000837521 0.00167364 0.0000028

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Leber congenital amaurosis IV AIPL1 1 0.00041876 0.00083717 0.000000701

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Autoimmune polyendocrinopathy syndrome AIRE 3 0.00125628 0.00250941 0.0000063

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Bile acid synthesis defect AKR1D1 1 0.00041876 0.00083717 0.000000701

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Sjogren-Larsson syndrome ALDH3A2 15 0.00628141 0.0124839 0.000155848

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Epilepsy ALDH7A1 3 0.00125628 0.00250941 0.0000063

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Fructose intolerance ALDOB 4 0.00167504 0.00334447 0.0000112

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Congenital disorder of glycosylation ALG1 2 0.000837521 0.00167364 0.0000028

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Congenital disorder of glycosylation 1i ALG2 1 0.00041876 0.00083717 0.000000701

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Congenital disorder of glycosylation ALG3 1 0.00041876 0.00083717 0.000000701

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Congenital disorder of glycosylation 1h ALG8 1 0.00041876 0.00083717 0.000000701

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Alstrom syndrome ALMS1 6 0.00251256 0.0050125 0.0000251

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Odontohypophosphatasia ALPL 4 0.00167504 0.00334447 0.0000112

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Cerebellar ataxia 3 ANO10 1 0.00041876 0.00083717 0.000000701

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Muscular dystrophy, limb girdle 2L ANO5 5 0.0020938 0.00417884 0.0000175

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Hyaline fibromatosis syndrome ANTXR2 1 0.00041876 0.00083717 0.000000701

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Spastic paraplegia 52 AP4S1 2 0.000837521 0.00167364 0.0000028

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Ataxia APTX 3 0.00125628 0.00250941 0.0000063

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Metachromatic leukodystrophy ARSA 2 0.000837521 0.00167364 0.0000028

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Mucopolysaccharidosis type VI (Maroteaux-Lamy) ARSB 2 0.000837521 0.00167364 0.0000028

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Spinal muscular atrophy with progressive myoclonic epilepsy ASAH1 1 0.00041876 0.00083717 0.000000701

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Argininosuccinic aciduria ASL 1 0.00041876 0.00083717 0.000000701

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Microcephaly 5 ASPM 2 0.000837521 0.00167364 0.0000028

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Ataxia-telangiectasia ATM 5 0.0020938 0.00417884 0.0000175

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Kufor-Rakeb syndrome ATP13A2 1 0.00041876 0.00083717 0.000000701

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Autism spectrum disorder ATP2A1 5 0.0020938 0.00417884 0.0000175

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Wilson disease ATP7B 4 0.00167504 0.00334447 0.0000112

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Neurodevelopmental disorder with poor growth and behavioral abnormalities ATP9A 2 0.000837521 0.00167364 0.0000028

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Pulmonary fibrosis / aplastic anaemia ATR 1 0.00041876 0.00083717 0.000000701

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Nephrotic syndrome AVIL 7 0.00293132 0.00584546 0.0000342

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Muscular dystrophy-dystroglycanopathy B3GALNT2 1 0.00041876 0.00083717 0.000000701

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Spondyloepimetaphyseal dysplasia with joint laxity B3GALT6 3 0.00125628 0.00250941 0.0000063

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Multiple joint dislocations B3GAT3 4 0.00167504 0.00334447 0.0000112

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Peters-Plus syndrome B3GLCT 1 0.00041876 0.00083717 0.000000701

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Spastic paraplegia B4GALNT1 1 0.00041876 0.00083717 0.000000701

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Phenotype modifier BBS5 1 0.00041876 0.00083717 0.000000701

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Bardet-Biedl syndrome, modifier of BBS7 1 0.00041876 0.00083717 0.000000701

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Retinitis pigmentosa BBS9 1 0.00041876 0.00083717 0.000000701

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Butyrylcholinesterase deficiency BCHE 29 0.0121441 0.0239932 0.000575671

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GRACILE syndrome BCS1L 1 0.00041876 0.00083717 0.000000701

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Breast cancer BLM 1 0.00041876 0.00083717 0.000000701

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Biotinidase deficiency BTD 17 0.00711893 0.0141365 0.000199841

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Autism spectrum disorder C2CD3 1 0.00041876 0.00083717 0.000000701

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Complement C5 deficiency C5 1 0.00041876 0.00083717 0.000000701

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Inflammatory bowel disease, very early onset C6 4 0.00167504 0.00334447 0.0000112

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Alzheimer disease in Han Chinese, association with C7 6 0.00251256 0.0050125 0.0000251

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Complement C8 alpha-gamma deficiency C8A 6 0.00251256 0.0050125 0.0000251

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Primary immunodeficiency disease C8B 3 0.00125628 0.00250941 0.0000063

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Carbonic anhydrase VA deficiency CA5A 5 0.0020938 0.00417884 0.0000175

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Retinal dystrophy CABP4 1 0.00041876 0.00083717 0.000000701

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Muscular dystrophy, limb girdle 2A CAPN3 4 0.00167504 0.00334447 0.0000112

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Homocystinuria CBS 2 0.000837521 0.00167364 0.0000028

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Primary ciliary dyskinesia CCDC103 1 0.00041876 0.00083717 0.000000701

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Primary ciliary dyskinesia CCDC39 2 0.000837521 0.00167364 0.0000028

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Primary ciliary dyskinesia CCDC40 8 0.00335008 0.00667772 0.0000446

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Pseudorheumatoid dysplasia, progressive CCN6 1 0.00041876 0.00083717 0.000000701

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Ciliary dyskinesia CCNO 7 0.00293132 0.00584546 0.0000342

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Platelet glycoprotein IV deficiency CD36 41 0.0171692 0.0337488 0.00113898

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Usher syndrome CDH23 11 0.00460637 0.00917029 0.0000841

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Hypotrichosis CDH3 3 0.00125628 0.00250941 0.0000063

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Autism spectrum disorder CDK5RAP2 7 0.00293132 0.00584546 0.0000342

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Intellectual disability CENPJ 1 0.00041876 0.00083717 0.000000701

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Seckel syndrome CEP152 1 0.00041876 0.00083717 0.000000701

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Leber congenital amaurosis 10 CEP290 5 0.0020938 0.00417884 0.0000175

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Ichthyosis CERS3 3 0.00125628 0.00250941 0.0000063

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Retinitis pigmentosa CFAP410 2 0.000837521 0.00167364 0.0000028

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Dextrocardia and situs disturbances CFAP53 3 0.00125628 0.00250941 0.0000063

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Cystic fibrosis CFTR 8 0.00335008 0.00667772 0.0000446

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Congenital myasthenic syndrome CHRNE 1 0.00041876 0.00083717 0.000000701

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Multiple pterygium syndrome CHRNG 2 0.000837521 0.00167364 0.0000028

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Bartter syndrome CLCNKB 1 0.00041876 0.00083717 0.000000701

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Congenital short-bowel syndrome CLMP 1 0.00041876 0.00083717 0.000000701

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Retinal dystrophy, early-onset CLN3 3 0.00125628 0.00250941 0.0000063

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Achromatopsia 2 CNGA3 6 0.00251256 0.0050125 0.0000251

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Achromatopsia 3 CNGB3 4 0.00167504 0.00334447 0.0000112

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Hypogonadotropic hypogonadism CNTN2 2 0.000837521 0.00167364 0.0000028

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Hypomyelinating neuropathy CNTNAP1 1 0.00041876 0.00083717 0.000000701

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Schizophrenia COG7 1 0.00041876 0.00083717 0.000000701

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Epithelial recurrent erosion dystrophy COL17A1 7 0.00293132 0.00584546 0.0000342

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Knobloch syndrome COL18A1 1 0.00041876 0.00083717 0.000000701

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Steel syndrome COL27A1 2 0.000837521 0.00167364 0.0000028

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Bethlem myopathy 1 COL6A2 2 0.000837521 0.00167364 0.0000028

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EBD COL7A1 3 0.00125628 0.00250941 0.0000063

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Primary coenzyme Q10 deficiency, neonatal onset COQ9 8 0.00335008 0.00667772 0.0000446

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Haemophagocytic lymphohistiocytosis CORO1A 3 0.00125628 0.00250941 0.0000063

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Hypertrophic cardiomyopathy, early onset COX15 1 0.00041876 0.00083717 0.000000701

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Dysarthria, ataxia and sensory neuropathy COX20 1 0.00041876 0.00083717 0.000000701

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Joubert syndrome CPLANE1 4 0.00167504 0.00334447 0.0000112

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Leber congenital amaurosis 8 CRB1 1 0.00041876 0.00083717 0.000000701

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Congenital nephrosis, Finnish type-like, with cerebral ventriculomegaly & raised alpha-fetoprotein CRB2 1 0.00041876 0.00083717 0.000000701

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Short stature, microcephaly & dysmorphic facies CRIPT 2 0.000837521 0.00167364 0.0000028

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Cystinosis CTNS 2 0.000837521 0.00167364 0.0000028

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Pycnodysostosis CTSK 1 0.00041876 0.00083717 0.000000701

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Albuminuria, association with CUBN 52 0.0217755 0.0426027 0.00181499

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3-M syndrome 1 CUL7 2 0.000837521 0.00167364 0.0000028

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Steroid-11 beta-hydroxylase deficiency CYP11B1 4 0.00167504 0.00334447 0.0000112

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Glaucoma 3A CYP1B1 27 0.0113065 0.0223574 0.000499853

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Hyperandrogenism CYP21A2 135 0.0565327 0.106673 0.0113792

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Cerebrotendinous xanthomatosis CYP27A1 2 0.000837521 0.00167364 0.0000028

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Retinitis pigmentosa CYP4V2 3 0.00125628 0.00250941 0.0000063

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Leukoencephalopathy with brainstem & spinal cord involvement DARS2 1 0.00041876 0.00083717 0.000000701

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Diarrhea DGAT1 2 0.000837521 0.00167364 0.0000028

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Portal hypertension DGUOK 2 0.000837521 0.00167364 0.0000028

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Miller syndrome DHODH 2 0.000837521 0.00167364 0.0000028

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Congenital scoliosis DLL3 1 0.00041876 0.00083717 0.000000701

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Neural tube defects DNAAF1 1 0.00041876 0.00083717 0.000000701

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Ciliary dyskinesia DNAH11 3 0.00125628 0.00250941 0.0000063

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Primary ciliary dyskinesia DNAH5 6 0.00251256 0.0050125 0.0000251

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Situs inversus and male infertility DNAH9 2 0.000837521 0.00167364 0.0000028

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Systemic lupus erythematosus 16 DNASE1L3 4 0.00167504 0.00334447 0.0000112

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Adams-Oliver syndrome 2 DOCK6 2 0.000837521 0.00167364 0.0000028

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Immunodeficiency, primary DOCK8 1 0.00041876 0.00083717 0.000000701

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Fetal akinesia deformation sequence 3 DOK7 2 0.000837521 0.00167364 0.0000028

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Microcephaly DONSON 23 0.00963149 0.0190775 0.000363949

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Congenital disorder of glycosylation 1 DPAGT1 1 0.00041876 0.00083717 0.000000701

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Dihydropyrimidine dehydrogenase deficiency DPYD 5 0.0020938 0.00417884 0.0000175

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Dihydropyrimidinase deficiency DPYS 8 0.00335008 0.00667772 0.0000446

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Cardiomyopathy, arrhythmogenic right ventricular DSP 1 0.00041876 0.00083717 0.000000701

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Hypothyroidism DUOX2 5 0.0020938 0.00417884 0.0000175

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Asphyxiating thoracic dystrophy DYNC2H1 5 0.0020938 0.00417884 0.0000175

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Short-rib thoracic dysplasia 8 with or without polydactyly DYNC2I1 2 0.000837521 0.00167364 0.0000028

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Arthrogryposis ECEL1 1 0.00041876 0.00083717 0.000000701

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Short-chain enoyl-CoA hydratase deficiency ECHS1 1 0.00041876 0.00083717 0.000000701

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Ectodermal dysplasia 11A EDARADD 2 0.000837521 0.00167364 0.0000028

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Autism spectrum disorder ELP1 1 0.00041876 0.00083717 0.000000701

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Vici syndrome EPG5 1 0.00041876 0.00083717 0.000000701

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Basal cell carcinoma, reduced risk, association with ERCC2 1 0.00041876 0.00083717 0.000000701

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Hearing loss ESPN 1 0.00041876 0.00083717 0.000000701

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Ellis-van Creveld syndrome EVC2 2 0.000837521 0.00167364 0.0000028

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Pontocerebellar hypoplasia 1 EXOSC3 1 0.00041876 0.00083717 0.000000701

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Epidermolysis bullosa, junctional EXPH5 3 0.00125628 0.00250941 0.0000063

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Retinitis pigmentosa EYS 15 0.00628141 0.0124839 0.000155848

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Factor XI deficiency F11 5 0.0020938 0.00417884 0.0000175

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Thrombophilia 1 due to thrombin defect F2 22 0.00921273 0.0182557 0.000333271

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Factor VII deficiency F7 18 0.00753769 0.0149617 0.000223854

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Spastic paraplegia 35 FA2H 1 0.00041876 0.00083717 0.000000701

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Tyrosinemia FAH 4 0.00167504 0.00334447 0.0000112

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Retinitis pigmentosa FAM161A 1 0.00041876 0.00083717 0.000000701

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Fanconi anemia FANCC 2 0.000837521 0.00167364 0.0000028

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Fructose-1,6-bisphosphatase deficiency FBP1 1 0.00041876 0.00083717 0.000000701

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Parkinsonism, juvenile FBXO7 1 0.00041876 0.00083717 0.000000701

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Multiple leiomyomatosis FH 1 0.00041876 0.00083717 0.000000701

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Amyotrophic lateral sclerosis, sporadic FIG4 1 0.00041876 0.00083717 0.000000701

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Posterior column ataxia & retinitis pigmentosa FLVCR1 1 0.00041876 0.00083717 0.000000701

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Complex I deficiency FOXRED1 1 0.00041876 0.00083717 0.000000701

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Congenital anomalies of the kidney and urinary tract FRAS1 2 0.000837521 0.00167364 0.0000028

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Intellectual disability, developmental delay & seizures FRRS1L 1 0.00041876 0.00083717 0.000000701

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Formiminoglutamic acidura FTCD 3 0.00125628 0.00250941 0.0000063

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Glycogen storage disease Ia G6PC1 2 0.000837521 0.00167364 0.0000028

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Glycogen storage disease II GAA 10 0.0041876 0.00834014 0.0000696

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Krabbe disease GALC 7 0.00293132 0.00584546 0.0000342

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Galactokinase deficiency, presenile cataract GALK1 2 0.000837521 0.00167364 0.0000028

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Mucopolysaccharidosis IVA GALNS 1 0.00041876 0.00083717 0.000000701

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Tumoral calcinosis GALNT3 16 0.00670017 0.0133106 0.000177171

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Cerebral creatine deficiency syndrome 2 GAMT 3 0.00125628 0.00250941 0.0000063

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Gaucher disease GBA 4 0.00167504 0.00334447 0.0000112

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Spastic paraplegia GBA2 2 0.000837521 0.00167364 0.0000028

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Glycogen storage disease 4 GBE1 1 0.00041876 0.00083717 0.000000701

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Glutaric acidaemia 1 GCDH 6 0.00251256 0.0050125 0.0000251

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Charcot-Marie-Tooth disease GDAP1 2 0.000837521 0.00167364 0.0000028

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Congenital myasthenic syndrome GFPT1 1 0.00041876 0.00083717 0.000000701

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Hypogonadotropic hypogonadism GHR 1 0.00041876 0.00083717 0.000000701

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Hearing loss, non-syndromic GIPC3 2 0.000837521 0.00167364 0.0000028

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Keratoderma GJB2 30 0.0125628 0.02481 0.000615535

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GM1-gangliosidosis GLB1 1 0.00041876 0.00083717 0.000000701

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Glycine encephalopathy GLDC 5 0.0020938 0.00417884 0.0000175

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GNE myopathy GNE 5 0.0020938 0.00417884 0.0000175

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Mucolipidosis III alpha/beta GNPTAB 1 0.00041876 0.00083717 0.000000701

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Hypogonadotropic hypogonadism GNRHR 7 0.00293132 0.00584546 0.0000342

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Absence of collagen-induced platelet activation GP6 5 0.0020938 0.00417884 0.0000175

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Hyperekplexia GPHN 1 0.00041876 0.00083717 0.000000701

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Autism spectrum disorder GPR179 2 0.000837521 0.00167364 0.0000028

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Hyperoxaluria II GRHPR 3 0.00125628 0.00250941 0.0000063

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Congenital stationary night blindness GRM6 5 0.0020938 0.00417884 0.0000175

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Glycogen storage disease 0 GYS2 7 0.00293132 0.00584546 0.0000342

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Mitochondrial trifunctional protein deficiency HADHB 1 0.00041876 0.00083717 0.000000701

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Haemoglobin variant HBA1 34 0.0142379 0.0280703 0.000787941

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Haemoglobin variant HBA2 22 0.00921273 0.0182557 0.000333271

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Haemoglobin variant HBB 121 0.05067 0.0962051 0.00925543

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Haemoglobin variant HBD 31 0.0129816 0.0256261 0.000656697

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[Hex A pseudodeficiency] HEXA 2 0.000837521 0.00167364 0.0000028

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Alkaptonuria HGD 2 0.000837521 0.00167364 0.0000028

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Mucopolysaccharidosis type IIIC (Sanfilippo C) HGSNAT 2 0.000837521 0.00167364 0.0000028

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Hermansky-Pudlak syndrome 3 HPS3 2 0.000837521 0.00167364 0.0000028

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Apparent mineralocorticoid excess HSD11B2 3 0.00125628 0.00250941 0.0000063

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Pseudohermaphroditism, male HSD17B3 1 0.00041876 0.00083717 0.000000701

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D-bifunctional protein deficiency HSD17B4 1 0.00041876 0.00083717 0.000000701

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Scoliosis, idiopathic, association with HSPG2 14 0.00586265 0.0116566 0.000135875

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Hurler syndrome IDUA 2 0.000837521 0.00167364 0.0000028

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Leber congenital amaurosis IFT140 1 0.00041876 0.00083717 0.000000701

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Mycobacterial infection IL12RB1 2 0.000837521 0.00167364 0.0000028

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IL-17RA deficiency with bacterial and fungal infections IL17RA 5 0.0020938 0.00417884 0.0000175

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Joubert syndrome 1 INPP5E 2 0.000837521 0.00167364 0.0000028

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Leber congenital amaurosis IQCB1 3 0.00125628 0.00250941 0.0000063

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Leukocyte adhesion deficiency ITGB2 1 0.00041876 0.00083717 0.000000701

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Bleeding disorder ITGB3 15 0.00628141 0.0124839 0.000155848

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Hirschsprung disease ITGB4 1 0.00041876 0.00083717 0.000000701

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Isovaleric acidemia IVD 1 0.00041876 0.00083717 0.000000701

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Hypothyroidism IYD 1 0.00041876 0.00083717 0.000000701

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Immunodeficiency, severe combined JAK3 2 0.000837521 0.00167364 0.0000028

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Bartter syndrome KCNJ1 5 0.0020938 0.00417884 0.0000175

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Retinal cone dystrophy 3B KCNV2 1 0.00041876 0.00083717 0.000000701

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Joubert syndrome KIAA0586 2 0.000837521 0.00167364 0.0000028

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Cerebellar ataxia KIF1C 10 0.0041876 0.00834014 0.0000696

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Macrocephaly, multiple epiphyseal dysplasia & facial features KIF7 1 0.00041876 0.00083717 0.000000701

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Retinitis pigmentosa 42 KLHL7 2 0.000837521 0.00167364 0.0000028

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Schizophrenia LAMA1 9 0.00376884 0.00750928 0.0000564

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Epidermolysis bullosa, junctional LAMA3 2 0.000837521 0.00167364 0.0000028

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Pierson syndrome/ nephrotic syndrome type 5 LAMB2 1 0.00041876 0.00083717 0.000000701

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Epidermolysis bullosa, Herlitz LAMC2 1 0.00041876 0.00083717 0.000000701

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LDL cholesterol level QTL2 LDLR 3 0.00125628 0.00250941 0.0000063

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Hypopituitarism and sensorineural hearing loss LHX3 2 0.000837521 0.00167364 0.0000028

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Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome LIFR 3 0.00125628 0.00250941 0.0000063

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Marfan syndrome, early-onset LIG4 1 0.00041876 0.00083717 0.000000701

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Intellectual developmental disorder LINS1 2 0.000837521 0.00167364 0.0000028

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Factor V and factor VIII deficiency, combined LMAN1 1 0.00041876 0.00083717 0.000000701

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Triphalangeal thumbs and preaxial polydactyly LMBR1 1 0.00041876 0.00083717 0.000000701

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Mandibuloacral dysplasia LMNA 1 0.00041876 0.00083717 0.000000701

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Deafness LOXHD1 6 0.00251256 0.0050125 0.0000251

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Myopia 28 LOXL3 2 0.000837521 0.00167364 0.0000028

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Hyperlipidaemia LPL 1 0.00041876 0.00083717 0.000000701

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Infantile mitochondrial disease, lethal LRPPRC 2 0.000837521 0.00167364 0.0000028

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Osteosclerotic metaphyseal dysplasia LRRK1 2 0.000837521 0.00167364 0.0000028

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Chediak-Higashi syndrome LYST 2 0.000837521 0.00167364 0.0000028

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Immunodeficiency, combined MALT1 2 0.000837521 0.00167364 0.0000028

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Nephronophthisis, late onset MAPKBP1 1 0.00041876 0.00083717 0.000000701

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Ciliary dyskinesia MCIDAS 2 0.000837521 0.00167364 0.0000028

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Neutrophilic dermatosis MEFV 73 0.0305695 0.05927 0.00351294

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Parkinson disease, early onset MKS1 2 0.000837521 0.00167364 0.0000028

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Methylmalonic aciduria and homocystinuria MMACHC 2 0.000837521 0.00167364 0.0000028

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Homocystinuria, cblD type MMADHC 1 0.00041876 0.00083717 0.000000701

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Methylmalonic aciduria MMUT 1 0.00041876 0.00083717 0.000000701

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Thiopurine-induced toxicity MOCOS 3 0.00125628 0.00250941 0.0000063

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Thrombocytosis, association with MPL 9 0.00376884 0.00750928 0.0000564

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Trichothiodystrophy, nonphotosensitive MPLKIP 1 0.00041876 0.00083717 0.000000701

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Mitochondrial DNA depletion syndrome, hepatocerebral MPV17 1 0.00041876 0.00083717 0.000000701

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Breast cancer MRE11 1 0.00041876 0.00083717 0.000000701

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Cleft lip with or without cleft palate MTRR 3 0.00125628 0.00250941 0.0000063

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Hyper-IgD syndrome MVK 4 0.00167504 0.00334447 0.0000112

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Deafness, non-syndromic, autosomal recessive MYO15A 2 0.000837521 0.00167364 0.0000028

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Diarrhea 2 MYO5B 6 0.00251256 0.0050125 0.0000251

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Bone, connective tissue, liver, immune system & retinal defects NBAS 3 0.00125628 0.00250941 0.0000063

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Breast cancer, male NBN 1 0.00041876 0.00083717 0.000000701

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Chronic granulomatous disease NCF1 8 0.00335008 0.00667772 0.0000446

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Chronic granulomatous disease NCF2 1 0.00041876 0.00083717 0.000000701

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Leigh syndrome/Mitochondrial Complex I deficiency NDUFAF5 1 0.00041876 0.00083717 0.000000701

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Neurodevelopmental disorder NDUFS1 1 0.00041876 0.00083717 0.000000701

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Amyotrophic lateral sclerosis NEK1 1 0.00041876 0.00083717 0.000000701

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Renal disease with hepatic and cardiac anomalies NEK8 1 0.00041876 0.00083717 0.000000701

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Spastic ataxia 8 NKX6-2 1 0.00041876 0.00083717 0.000000701

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Nephronophthisis 1 NPHP1 2 0.000837521 0.00167364 0.0000028

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Nephronophthisis 4 NPHP4 2 0.000837521 0.00167364 0.0000028

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Nephrotic syndrome NPHS1 3 0.00125628 0.00250941 0.0000063

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Retinitis pigmentosa 37 NR2E3 7 0.00293132 0.00584546 0.0000342

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Complex I deficiency NUBPL 1 0.00041876 0.00083717 0.000000701

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Cardiomyopathy, dilated OBSL1 7 0.00293132 0.00584546 0.0000342

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Pseudo-TORCH syndrome 1 OCLN 3 0.00125628 0.00250941 0.0000063

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Optic atrophy plus syndrome OPA1 1 0.00041876 0.00083717 0.000000701

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Lymphoproliferative disorder ORC4 2 0.000837521 0.00167364 0.0000028

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Meier-Gorlin syndrome ORC6 6 0.00251256 0.0050125 0.0000251

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Hearing loss OTOA 2 0.000837521 0.00167364 0.0000028

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Deafness, non-syndromic OTOF 3 0.00125628 0.00250941 0.0000063

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Hearing loss, sensorineural OTOG 3 0.00125628 0.00250941 0.0000063

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Hearing impairment OTOGL 4 0.00167504 0.00334447 0.0000112

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Hyperphenylalaninemia PAH 40 0.0167504 0.0329397 0.00108502

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Neurodegeneration with brain iron accumulation 1 PANK2 4 0.00167504 0.00334447 0.0000112

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Hyperinsulinism PC 1 0.00041876 0.00083717 0.000000701

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Retinitis pigmentosa 54 PCARE 8 0.00335008 0.00667772 0.0000446

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Propionicacidemia PCCB 1 0.00041876 0.00083717 0.000000701

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Usher syndrome 1 PCDH15 4 0.00167504 0.00334447 0.0000112

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Retinitis pigmentosa, pericentral PDE6B 1 0.00041876 0.00083717 0.000000701

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Tourette syndrome PDP1 1 0.00041876 0.00083717 0.000000701

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Prolidase deficiency PEPD 3 0.00125628 0.00250941 0.0000063

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Zellweger syndrome PEX1 2 0.000837521 0.00167364 0.0000028

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Peroxisome biogenesis disorder 3B PEX12 1 0.00041876 0.00083717 0.000000701

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Peroxisome biogenesis disorder 8B PEX16 1 0.00041876 0.00083717 0.000000701

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Refsum disease, infantile PEX26 1 0.00041876 0.00083717 0.000000701

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Peroxisome biogenesis disorder 4B PEX6 3 0.00125628 0.00250941 0.0000063

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Congenital disorder of glycosylation PGM1 1 0.00041876 0.00083717 0.000000701

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Fetal alcohol syndrome, predisposition to PGM3 2 0.000837521 0.00167364 0.0000028

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Primary microcephaly PHC1 3 0.00125628 0.00250941 0.0000063

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Neu-Laxova syndrome 1 PHGDH 1 0.00041876 0.00083717 0.000000701

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PIGO deficiency PIGO 7 0.00293132 0.00584546 0.0000342

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Deafness PJVK 4 0.00167504 0.00334447 0.0000112

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Polycystic kidney disease 4 PKHD1 5 0.0020938 0.00417884 0.0000175

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Pyruvate kinase deficiency PKLR 18 0.00753769 0.0149617 0.000223854

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Infantile neuroaxonal dystrophy PLA2G6 2 0.000837521 0.00167364 0.0000028

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Myopathy PLEKHG5 3 0.00125628 0.00250941 0.0000063

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Ehlers-Danlos syndrome PLOD1 5 0.0020938 0.00417884 0.0000175

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Congenital disorder of glycosylation 1a PMM2 3 0.00125628 0.00250941 0.0000063

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Nucleoside phosphorylase deficiency PNP 1 0.00041876 0.00083717 0.000000701

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Pyridoxamine 5'-phosphate oxidase deficiency PNPO 2 0.000837521 0.00167364 0.0000028

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Mitochondrial recessive ataxia syndrome POLG 2 0.000837521 0.00167364 0.0000028

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Altered function POR 1 0.00041876 0.00083717 0.000000701

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Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PRG4 4 0.00167504 0.00334447 0.0000112

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Neural tube defects PRICKLE1 1 0.00041876 0.00083717 0.000000701

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Thrombophilia 3 due to protein C deficiency PROC 2 0.000837521 0.00167364 0.0000028

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Hypotonia, microcephaly and global developmental delay PRUNE1 1 0.00041876 0.00083717 0.000000701

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Combined SAP deficiency PSAP 5 0.0020938 0.00417884 0.0000175

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Developmental disorder PSAT1 3 0.00125628 0.00250941 0.0000063

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Congenital sensorineural hearing loss, autosomal recessive PTPRQ 5 0.0020938 0.00417884 0.0000175

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Tetrahydrobiopterin deficiency PTS 2 0.000837521 0.00167364 0.0000028

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Glycogen storage disease 6 PYGL 1 0.00041876 0.00083717 0.000000701

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McArdle disease PYGM 3 0.00125628 0.00250941 0.0000063

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Microcephaly QARS1 1 0.00041876 0.00083717 0.000000701

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Dihydropteridine reductase deficiency QDPR 2 0.000837521 0.00167364 0.0000028

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Microphthalmia & cataract RAB3GAP2 10 0.0041876 0.00834014 0.0000696

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Omenn syndrome RAG1 1 0.00041876 0.00083717 0.000000701

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Congenital myasthenic syndrome RAPSN 2 0.000837521 0.00167364 0.0000028

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Pulmonary arterial hypertension RARS2 7 0.00293132 0.00584546 0.0000342

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Microphthalmia RAX 2 0.000837521 0.00167364 0.0000028

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Baller-Gerold syndrome RECQL4 1 0.00041876 0.00083717 0.000000701

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MHC class II deficiency RFXANK 1 0.00041876 0.00083717 0.000000701

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Aicardi-Goutieres syndrome 4 RNASEH2A 3 0.00125628 0.00250941 0.0000063

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Aicardi-Goutières syndrome RNASEH2B 1 0.00041876 0.00083717 0.000000701

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Aicardi-Goutieres syndrome 3 RNASEH2C 1 0.00041876 0.00083717 0.000000701

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Gaze palsy ROBO3 1 0.00041876 0.00083717 0.000000701

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Kohlschütter-Tönz syndrome ROGDI 3 0.00125628 0.00250941 0.0000063

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Cone-rod dystrophy 13 RPGRIP1 11 0.00460637 0.00917029 0.0000841

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Primary microcephaly & primordial dwarfism RTTN 3 0.00125628 0.00250941 0.0000063

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Congenital myopathy 1B RYR1 2 0.000837521 0.00167364 0.0000028

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Spastic ataxia, Charlevoix-Saguenay SACS 2 0.000837521 0.00167364 0.0000028

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Retinitis pigmentosa, autosomal recessive SAG 3 0.00125628 0.00250941 0.0000063

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Shwachman-Diamond syndrome SBDS 4 0.00167504 0.00334447 0.0000112

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Charcot-Marie-Tooth disease SBF1 3 0.00125628 0.00250941 0.0000063

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Paramyotonia congenita SCN4A 2 0.000837521 0.00167364 0.0000028

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Childhood absence epilepsy SCN9A 1 0.00041876 0.00083717 0.000000701

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Anaemia, dyserythropoietic congenital, type II SEC23B 3 0.00125628 0.00250941 0.0000063

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Cerebellar atrophy SEPSECS 1 0.00041876 0.00083717 0.000000701

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Reduced alpha-1-antitrypsin concentration SERPINA1 2 0.000837521 0.00167364 0.0000028

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Osteogenesis imperfecta SERPINF1 3 0.00125628 0.00250941 0.0000063

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Muscular dystrophy SGCD 1 0.00041876 0.00083717 0.000000701

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Muscular dystrophy, limb girdle SGCG 32 0.0134003 0.0264415 0.000699155

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Mucopolysaccharidosis type IIIA (Sanfilippo A) SGSH 1 0.00041876 0.00083717 0.000000701

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Sucrase isomaltase deficiency SI 7 0.00293132 0.00584546 0.0000342

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Macular degeneration, age related, reduced risk SKIV2L 2 0.000837521 0.00167364 0.0000028

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Gitelman syndrome SLC12A3 8 0.00335008 0.00667772 0.0000446

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Wernicke's-like encephalopathy SLC19A3 1 0.00041876 0.00083717 0.000000701

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Carnitine deficiency SLC22A5 1 0.00041876 0.00083717 0.000000701

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Intrahepatic cholestasis, neonatal SLC25A13 3 0.00125628 0.00250941 0.0000063

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Thiamine metabolism dysfunction syndrome 4 SLC25A19 1 0.00041876 0.00083717 0.000000701

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Carnitine-acylcarnitine translocase deficiency SLC25A20 2 0.000837521 0.00167364 0.0000028

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Deafness SLC26A4 19 0.00795645 0.0157863 0.000249207

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Glucose transporter type 1 deficiency syndrome SLC2A1 1 0.00041876 0.00083717 0.000000701

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?Fanconi renotubular syndrome 2 SLC34A1 3 0.00125628 0.00250941 0.0000063

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Schneckenbecken dysplasia SLC35D1 1 0.00041876 0.00083717 0.000000701

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Glycogen storage disease 1b SLC37A4 2 0.000837521 0.00167364 0.0000028

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Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis SLC38A8 1 0.00041876 0.00083717 0.000000701

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?Hyperostosis cranalis interna SLC39A14 1 0.00041876 0.00083717 0.000000701

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Cystinuria SLC3A1 6 0.00251256 0.0050125 0.0000251

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Neuronopathy SLC5A7 2 0.000837521 0.00167364 0.0000028

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Hartnup disorder SLC6A19 2 0.000837521 0.00167364 0.0000028

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Niemann-Pick disease SMPD1 1 0.00041876 0.00083717 0.000000701

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Neuronopathy, distal hereditary motor, autosomal recessive 8 SORD 12 0.00502513 0.00999975 0.0001

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Leber congenital amaurosis 3 SPATA7 2 0.000837521 0.00167364 0.0000028

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Charcot-Marie-Tooth disease SPG11 4 0.00167504 0.00334447 0.0000112

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Spastic paraplegia SPG7 5 0.0020938 0.00417884 0.0000175

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Spherocytosis SPTA1 4 0.00167504 0.00334447 0.0000112

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Deafness, non-syndromic STRC 3 0.00125628 0.00250941 0.0000063

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Neurodevelopmental disorder with ataxia SVBP 3 0.00125628 0.00250941 0.0000063

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Ichthyosiform erythroderma, congenital, nonbullous TGM1 3 0.00125628 0.00250941 0.0000063

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Intellectual disability THOC6 2 0.000837521 0.00167364 0.0000028

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Deafness TMC1 1 0.00041876 0.00083717 0.000000701

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Cerebro-facio-thoracic dysplasia TMCO1 1 0.00041876 0.00083717 0.000000701

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Oral-facial-digital syndrome TMEM107 3 0.00125628 0.00250941 0.0000063

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Joubert syndrome 16 TMEM138 4 0.00167504 0.00334447 0.0000112

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Meckel syndrome TMEM231 2 0.000837521 0.00167364 0.0000028

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Joubert syndrome related disorder TMEM237 1 0.00041876 0.00083717 0.000000701

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Nephronophthisis 11 TMEM67 4 0.00167504 0.00334447 0.0000112

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Hearing loss TMPRSS3 4 0.00167504 0.00334447 0.0000112

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Hemolytic anemia due to triosephosphate isomerase deficiency TPI1 2 0.000837521 0.00167364 0.0000028

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Thyroid dyshormonogenesis 2A TPO 15 0.00628141 0.0124839 0.000155848

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Hearing loss TPRN 6 0.00251256 0.0050125 0.0000251

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Hypogonadotropic hypogonadism, normosmic TRAPPC9 1 0.00041876 0.00083717 0.000000701

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Developmental disorder TRIOBP 6 0.00251256 0.0050125 0.0000251

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Spinal muscular atrophy & congenital bone fractures TRIP4 7 0.00293132 0.00584546 0.0000342

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Neurodevelopmental disorder TRMT10A 1 0.00041876 0.00083717 0.000000701

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Night blindness TRPM1 3 0.00125628 0.00250941 0.0000063

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Intellectual disability & epilepsy TSEN54 1 0.00041876 0.00083717 0.000000701

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Bardet-Biedl syndrome TTC21B 6 0.00251256 0.0050125 0.0000251

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Fatigue, failure to thrive & diarrhoea TTC37 7 0.00293132 0.00584546 0.0000342

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Immunodeficiency, combined, with intestinal atresias TTC7A 1 0.00041876 0.00083717 0.000000701

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Muscular dystrophy TTN 3 0.00125628 0.00250941 0.0000063

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Diaphragmatic hernia TUBGCP6 3 0.00125628 0.00250941 0.0000063

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Albinism, oculocutaneous TYR 14 0.00586265 0.0116566 0.000135875

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Johanson-Blizzard syndrome UBR1 2 0.000837521 0.00167364 0.0000028

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?Hip dysplasia UFSP2 7 0.00293132 0.00584546 0.0000342

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Beta-ureidopropionase deficiency UPB1 10 0.0041876 0.00834014 0.0000696

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Retinitis Pigmentosa USH2A 13 0.00544389 0.0108285 0.000117256

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Mitochondrial encephalopathy VARS2 1 0.00041876 0.00083717 0.000000701

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Rickets VDR 5 0.0020938 0.00417884 0.0000175

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Cohen syndrome VPS13B 5 0.0020938 0.00417884 0.0000175

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Arthrogryposis, renal dysfunction and cholestasis VPS33B 1 0.00041876 0.00083717 0.000000701

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Parkinson disease, early onset VPS53 1 0.00041876 0.00083717 0.000000701

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von Willebrand disease VWF 9 0.00376884 0.00750928 0.0000564

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Short rib-polydactyly syndrome WDR35 1 0.00041876 0.00083717 0.000000701

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Microcephaly, primary WDR62 1 0.00041876 0.00083717 0.000000701

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Usher syndrome WHRN 1 0.00041876 0.00083717 0.000000701

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Werner syndrome WRN 2 0.000837521 0.00167364 0.0000028

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NPHP-like kidney disease XPNPEP3 1 0.00041876 0.00083717 0.000000701

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Desbuquois dysplasia 2 XYLT1 1 0.00041876 0.00083717 0.000000701

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Spastic paraplegia with thin corpus callosum ZFYVE26 6 0.00251256 0.0050125 0.0000251

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