AVDB

Search By Gene

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

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ABCA12 Ichthyosis 16 0.00670017 0.0133106 0.000177171

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ABCA4 Retinal dystrophy 53 0.0221943 0.0434034 0.00188386

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ABCC6 Pseudoxanthoma elasticum 11 0.00460637 0.00917029 0.0000841

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ABCC8 Hyperinsulinism 1 0.00041876 0.00083717 0.000000701

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ABCG8 Sitosterolemia 1 10 0.0041876 0.00834014 0.0000696

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ACAD8 Isobutyryl-CoA dehydrogenase deficiency 2 0.000837521 0.00167364 0.0000028

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ACADM Acyl-CoA dehydrogenase 1 0.00041876 0.00083717 0.000000701

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

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ACADSB Inborn error of metabolism 2 0.000837521 0.00167364 0.0000028

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

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ACO2 Optic atrophy 9 2 0.000837521 0.00167364 0.0000028

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ADA Adenosine deaminase deficiency 1 0.00041876 0.00083717 0.000000701

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ADA2 Sneddon syndrome 4 0.00167504 0.00334447 0.0000112

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ADAMTS13 Reduced expression 1 0.00041876 0.00083717 0.000000701

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ADAMTS17 Weill-Marchesani syndrome 2 0.000837521 0.00167364 0.0000028

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

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

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AGK Sengers syndrome 6 0.00251256 0.0050125 0.0000251

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AGL Glycogen storage disease 3 2 0.000837521 0.00167364 0.0000028

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

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AGXT Hyperoxaluria 4 0.00167504 0.00334447 0.0000112

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AHI1 Joubert syndrome 2 0.000837521 0.00167364 0.0000028

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AIPL1 Leber congenital amaurosis IV 1 0.00041876 0.00083717 0.000000701

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AIRE Autoimmune polyendocrinopathy syndrome 3 0.00125628 0.00250941 0.0000063

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AKR1D1 Bile acid synthesis defect 1 0.00041876 0.00083717 0.000000701

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ALDH3A2 Sjogren-Larsson syndrome 15 0.00628141 0.0124839 0.000155848

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ALDH7A1 Epilepsy 3 0.00125628 0.00250941 0.0000063

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ALDOB Fructose intolerance 4 0.00167504 0.00334447 0.0000112

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ALG1 Congenital disorder of glycosylation 2 0.000837521 0.00167364 0.0000028

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ALG2 Congenital disorder of glycosylation 1i 1 0.00041876 0.00083717 0.000000701

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ALG3 Congenital disorder of glycosylation 1 0.00041876 0.00083717 0.000000701

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ALG8 Congenital disorder of glycosylation 1h 1 0.00041876 0.00083717 0.000000701

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ALMS1 Alstrom syndrome 6 0.00251256 0.0050125 0.0000251

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ALPL Odontohypophosphatasia 4 0.00167504 0.00334447 0.0000112

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ANO10 Cerebellar ataxia 3 1 0.00041876 0.00083717 0.000000701

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

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ANTXR2 Hyaline fibromatosis syndrome 1 0.00041876 0.00083717 0.000000701

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AP4S1 Spastic paraplegia 52 2 0.000837521 0.00167364 0.0000028

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APTX Ataxia 3 0.00125628 0.00250941 0.0000063

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ARSA Metachromatic leukodystrophy 2 0.000837521 0.00167364 0.0000028

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

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

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ASL Argininosuccinic aciduria 1 0.00041876 0.00083717 0.000000701

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ASPM Microcephaly 5 2 0.000837521 0.00167364 0.0000028

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ATM Ataxia-telangiectasia 5 0.0020938 0.00417884 0.0000175

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ATP13A2 Kufor-Rakeb syndrome 1 0.00041876 0.00083717 0.000000701

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ATP2A1 Autism spectrum disorder 5 0.0020938 0.00417884 0.0000175

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ATP7B Wilson disease 4 0.00167504 0.00334447 0.0000112

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

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ATR Pulmonary fibrosis / aplastic anaemia 1 0.00041876 0.00083717 0.000000701

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AVIL Nephrotic syndrome 7 0.00293132 0.00584546 0.0000342

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B3GALNT2 Muscular dystrophy-dystroglycanopathy 1 0.00041876 0.00083717 0.000000701

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B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity 3 0.00125628 0.00250941 0.0000063

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B3GAT3 Multiple joint dislocations 4 0.00167504 0.00334447 0.0000112

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B3GLCT Peters-Plus syndrome 1 0.00041876 0.00083717 0.000000701

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B4GALNT1 Spastic paraplegia 1 0.00041876 0.00083717 0.000000701

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BBS5 Phenotype modifier 1 0.00041876 0.00083717 0.000000701

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

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BBS9 Retinitis pigmentosa 1 0.00041876 0.00083717 0.000000701

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BCHE Butyrylcholinesterase deficiency 29 0.0121441 0.0239932 0.000575671

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BCS1L GRACILE syndrome 1 0.00041876 0.00083717 0.000000701

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BLM Breast cancer 1 0.00041876 0.00083717 0.000000701

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BTD Biotinidase deficiency 17 0.00711893 0.0141365 0.000199841

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C2CD3 Autism spectrum disorder 1 0.00041876 0.00083717 0.000000701

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C5 Complement C5 deficiency 1 0.00041876 0.00083717 0.000000701

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

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

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C8A Complement C8 alpha-gamma deficiency 6 0.00251256 0.0050125 0.0000251

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C8B Primary immunodeficiency disease 3 0.00125628 0.00250941 0.0000063

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CA5A Carbonic anhydrase VA deficiency 5 0.0020938 0.00417884 0.0000175

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CABP4 Retinal dystrophy 1 0.00041876 0.00083717 0.000000701

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

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CBS Homocystinuria 2 0.000837521 0.00167364 0.0000028

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CCDC103 Primary ciliary dyskinesia 1 0.00041876 0.00083717 0.000000701

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CCDC39 Primary ciliary dyskinesia 2 0.000837521 0.00167364 0.0000028

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CCDC40 Primary ciliary dyskinesia 8 0.00335008 0.00667772 0.0000446

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CCN6 Pseudorheumatoid dysplasia, progressive 1 0.00041876 0.00083717 0.000000701

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CCNO Ciliary dyskinesia 7 0.00293132 0.00584546 0.0000342

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CD36 Platelet glycoprotein IV deficiency 41 0.0171692 0.0337488 0.00113898

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CDH23 Usher syndrome 11 0.00460637 0.00917029 0.0000841

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CDH3 Hypotrichosis 3 0.00125628 0.00250941 0.0000063

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CDK5RAP2 Autism spectrum disorder 7 0.00293132 0.00584546 0.0000342

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CENPJ Intellectual disability 1 0.00041876 0.00083717 0.000000701

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CEP152 Seckel syndrome 1 0.00041876 0.00083717 0.000000701

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CEP290 Leber congenital amaurosis 10 5 0.0020938 0.00417884 0.0000175

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CERS3 Ichthyosis 3 0.00125628 0.00250941 0.0000063

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CFAP410 Retinitis pigmentosa 2 0.000837521 0.00167364 0.0000028

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CFAP53 Dextrocardia and situs disturbances 3 0.00125628 0.00250941 0.0000063

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CFTR Cystic fibrosis 8 0.00335008 0.00667772 0.0000446

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CHRNE Congenital myasthenic syndrome 1 0.00041876 0.00083717 0.000000701

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CHRNG Multiple pterygium syndrome 2 0.000837521 0.00167364 0.0000028

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CLCNKB Bartter syndrome 1 0.00041876 0.00083717 0.000000701

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CLMP Congenital short-bowel syndrome 1 0.00041876 0.00083717 0.000000701

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CLN3 Retinal dystrophy, early-onset 3 0.00125628 0.00250941 0.0000063

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CNGA3 Achromatopsia 2 6 0.00251256 0.0050125 0.0000251

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CNGB3 Achromatopsia 3 4 0.00167504 0.00334447 0.0000112

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CNTN2 Hypogonadotropic hypogonadism 2 0.000837521 0.00167364 0.0000028

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CNTNAP1 Hypomyelinating neuropathy 1 0.00041876 0.00083717 0.000000701

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COG7 Schizophrenia 1 0.00041876 0.00083717 0.000000701

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COL17A1 Epithelial recurrent erosion dystrophy 7 0.00293132 0.00584546 0.0000342

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COL18A1 Knobloch syndrome 1 0.00041876 0.00083717 0.000000701

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COL27A1 Steel syndrome 2 0.000837521 0.00167364 0.0000028

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COL6A2 Bethlem myopathy 1 2 0.000837521 0.00167364 0.0000028

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COL7A1 EBD 3 0.00125628 0.00250941 0.0000063

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

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CORO1A Haemophagocytic lymphohistiocytosis 3 0.00125628 0.00250941 0.0000063

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COX15 Hypertrophic cardiomyopathy, early onset 1 0.00041876 0.00083717 0.000000701

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COX20 Dysarthria, ataxia and sensory neuropathy 1 0.00041876 0.00083717 0.000000701

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CPLANE1 Joubert syndrome 4 0.00167504 0.00334447 0.0000112

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CRB1 Leber congenital amaurosis 8 1 0.00041876 0.00083717 0.000000701

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

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

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CTNS Cystinosis 2 0.000837521 0.00167364 0.0000028

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CTSK Pycnodysostosis 1 0.00041876 0.00083717 0.000000701

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CUBN Albuminuria, association with 52 0.0217755 0.0426027 0.00181499

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CUL7 3-M syndrome 1 2 0.000837521 0.00167364 0.0000028

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

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CYP1B1 Glaucoma 3A 27 0.0113065 0.0223574 0.000499853

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CYP21A2 Hyperandrogenism 135 0.0565327 0.106673 0.0113792

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CYP27A1 Cerebrotendinous xanthomatosis 2 0.000837521 0.00167364 0.0000028

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CYP4V2 Retinitis pigmentosa 3 0.00125628 0.00250941 0.0000063

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

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DGAT1 Diarrhea 2 0.000837521 0.00167364 0.0000028

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DGUOK Portal hypertension 2 0.000837521 0.00167364 0.0000028

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DHODH Miller syndrome 2 0.000837521 0.00167364 0.0000028

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DLL3 Congenital scoliosis 1 0.00041876 0.00083717 0.000000701

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DNAAF1 Neural tube defects 1 0.00041876 0.00083717 0.000000701

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DNAH11 Ciliary dyskinesia 3 0.00125628 0.00250941 0.0000063

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DNAH5 Primary ciliary dyskinesia 6 0.00251256 0.0050125 0.0000251

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DNAH9 Situs inversus and male infertility 2 0.000837521 0.00167364 0.0000028

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DNASE1L3 Systemic lupus erythematosus 16 4 0.00167504 0.00334447 0.0000112

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DOCK6 Adams-Oliver syndrome 2 2 0.000837521 0.00167364 0.0000028

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DOCK8 Immunodeficiency, primary 1 0.00041876 0.00083717 0.000000701

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DOK7 Fetal akinesia deformation sequence 3 2 0.000837521 0.00167364 0.0000028

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DONSON Microcephaly 23 0.00963149 0.0190775 0.000363949

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DPAGT1 Congenital disorder of glycosylation 1 1 0.00041876 0.00083717 0.000000701

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DPYD Dihydropyrimidine dehydrogenase deficiency 5 0.0020938 0.00417884 0.0000175

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DPYS Dihydropyrimidinase deficiency 8 0.00335008 0.00667772 0.0000446

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DSP Cardiomyopathy, arrhythmogenic right ventricular 1 0.00041876 0.00083717 0.000000701

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DUOX2 Hypothyroidism 5 0.0020938 0.00417884 0.0000175

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DYNC2H1 Asphyxiating thoracic dystrophy 5 0.0020938 0.00417884 0.0000175

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

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ECEL1 Arthrogryposis 1 0.00041876 0.00083717 0.000000701

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

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EDARADD Ectodermal dysplasia 11A 2 0.000837521 0.00167364 0.0000028

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ELP1 Autism spectrum disorder 1 0.00041876 0.00083717 0.000000701

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EPG5 Vici syndrome 1 0.00041876 0.00083717 0.000000701

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

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ESPN Hearing loss 1 0.00041876 0.00083717 0.000000701

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EVC2 Ellis-van Creveld syndrome 2 0.000837521 0.00167364 0.0000028

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EXOSC3 Pontocerebellar hypoplasia 1 1 0.00041876 0.00083717 0.000000701

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EXPH5 Epidermolysis bullosa, junctional 3 0.00125628 0.00250941 0.0000063

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EYS Retinitis pigmentosa 15 0.00628141 0.0124839 0.000155848

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F11 Factor XI deficiency 5 0.0020938 0.00417884 0.0000175

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F2 Thrombophilia 1 due to thrombin defect 22 0.00921273 0.0182557 0.000333271

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F7 Factor VII deficiency 18 0.00753769 0.0149617 0.000223854

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FA2H Spastic paraplegia 35 1 0.00041876 0.00083717 0.000000701

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FAH Tyrosinemia 4 0.00167504 0.00334447 0.0000112

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FAM161A Retinitis pigmentosa 1 0.00041876 0.00083717 0.000000701

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FANCC Fanconi anemia 2 0.000837521 0.00167364 0.0000028

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

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FBXO7 Parkinsonism, juvenile 1 0.00041876 0.00083717 0.000000701

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FH Multiple leiomyomatosis 1 0.00041876 0.00083717 0.000000701

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FIG4 Amyotrophic lateral sclerosis, sporadic 1 0.00041876 0.00083717 0.000000701

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FLVCR1 Posterior column ataxia & retinitis pigmentosa 1 0.00041876 0.00083717 0.000000701

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FOXRED1 Complex I deficiency 1 0.00041876 0.00083717 0.000000701

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

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

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FTCD Formiminoglutamic acidura 3 0.00125628 0.00250941 0.0000063

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G6PC1 Glycogen storage disease Ia 2 0.000837521 0.00167364 0.0000028

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GAA Glycogen storage disease II 10 0.0041876 0.00834014 0.0000696

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GALC Krabbe disease 7 0.00293132 0.00584546 0.0000342

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GALK1 Galactokinase deficiency, presenile cataract 2 0.000837521 0.00167364 0.0000028

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GALNS Mucopolysaccharidosis IVA 1 0.00041876 0.00083717 0.000000701

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GALNT3 Tumoral calcinosis 16 0.00670017 0.0133106 0.000177171

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GAMT Cerebral creatine deficiency syndrome 2 3 0.00125628 0.00250941 0.0000063

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GBA Gaucher disease 4 0.00167504 0.00334447 0.0000112

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GBA2 Spastic paraplegia 2 0.000837521 0.00167364 0.0000028

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GBE1 Glycogen storage disease 4 1 0.00041876 0.00083717 0.000000701

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GCDH Glutaric acidaemia 1 6 0.00251256 0.0050125 0.0000251

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GDAP1 Charcot-Marie-Tooth disease 2 0.000837521 0.00167364 0.0000028

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GFPT1 Congenital myasthenic syndrome 1 0.00041876 0.00083717 0.000000701

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GHR Hypogonadotropic hypogonadism 1 0.00041876 0.00083717 0.000000701

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GIPC3 Hearing loss, non-syndromic 2 0.000837521 0.00167364 0.0000028

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GJB2 Keratoderma 30 0.0125628 0.02481 0.000615535

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GLB1 GM1-gangliosidosis 1 0.00041876 0.00083717 0.000000701

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GLDC Glycine encephalopathy 5 0.0020938 0.00417884 0.0000175

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GNE GNE myopathy 5 0.0020938 0.00417884 0.0000175

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GNPTAB Mucolipidosis III alpha/beta 1 0.00041876 0.00083717 0.000000701

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GNRHR Hypogonadotropic hypogonadism 7 0.00293132 0.00584546 0.0000342

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

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GPHN Hyperekplexia 1 0.00041876 0.00083717 0.000000701

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GPR179 Autism spectrum disorder 2 0.000837521 0.00167364 0.0000028

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GRHPR Hyperoxaluria II 3 0.00125628 0.00250941 0.0000063

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GRM6 Congenital stationary night blindness 5 0.0020938 0.00417884 0.0000175

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GYS2 Glycogen storage disease 0 7 0.00293132 0.00584546 0.0000342

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HADHB Mitochondrial trifunctional protein deficiency 1 0.00041876 0.00083717 0.000000701

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HBA1 Haemoglobin variant 34 0.0142379 0.0280703 0.000787941

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HBA2 Haemoglobin variant 22 0.00921273 0.0182557 0.000333271

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HBB Haemoglobin variant 121 0.05067 0.0962051 0.00925543

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HBD Haemoglobin variant 31 0.0129816 0.0256261 0.000656697

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HEXA [Hex A pseudodeficiency] 2 0.000837521 0.00167364 0.0000028

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HGD Alkaptonuria 2 0.000837521 0.00167364 0.0000028

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

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HPS3 Hermansky-Pudlak syndrome 3 2 0.000837521 0.00167364 0.0000028

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HSD11B2 Apparent mineralocorticoid excess 3 0.00125628 0.00250941 0.0000063

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HSD17B3 Pseudohermaphroditism, male 1 0.00041876 0.00083717 0.000000701

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HSD17B4 D-bifunctional protein deficiency 1 0.00041876 0.00083717 0.000000701

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HSPG2 Scoliosis, idiopathic, association with 14 0.00586265 0.0116566 0.000135875

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IDUA Hurler syndrome 2 0.000837521 0.00167364 0.0000028

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IFT140 Leber congenital amaurosis 1 0.00041876 0.00083717 0.000000701

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IL12RB1 Mycobacterial infection 2 0.000837521 0.00167364 0.0000028

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

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INPP5E Joubert syndrome 1 2 0.000837521 0.00167364 0.0000028

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IQCB1 Leber congenital amaurosis 3 0.00125628 0.00250941 0.0000063

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ITGB2 Leukocyte adhesion deficiency 1 0.00041876 0.00083717 0.000000701

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ITGB3 Bleeding disorder 15 0.00628141 0.0124839 0.000155848

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ITGB4 Hirschsprung disease 1 0.00041876 0.00083717 0.000000701

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IVD Isovaleric acidemia 1 0.00041876 0.00083717 0.000000701

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IYD Hypothyroidism 1 0.00041876 0.00083717 0.000000701

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JAK3 Immunodeficiency, severe combined 2 0.000837521 0.00167364 0.0000028

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KCNJ1 Bartter syndrome 5 0.0020938 0.00417884 0.0000175

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KCNV2 Retinal cone dystrophy 3B 1 0.00041876 0.00083717 0.000000701

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KIAA0586 Joubert syndrome 2 0.000837521 0.00167364 0.0000028

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KIF1C Cerebellar ataxia 10 0.0041876 0.00834014 0.0000696

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

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KLHL7 Retinitis pigmentosa 42 2 0.000837521 0.00167364 0.0000028

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LAMA1 Schizophrenia 9 0.00376884 0.00750928 0.0000564

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LAMA3 Epidermolysis bullosa, junctional 2 0.000837521 0.00167364 0.0000028

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

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LAMC2 Epidermolysis bullosa, Herlitz 1 0.00041876 0.00083717 0.000000701

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LDLR LDL cholesterol level QTL2 3 0.00125628 0.00250941 0.0000063

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LHX3 Hypopituitarism and sensorineural hearing loss 2 0.000837521 0.00167364 0.0000028

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

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LIG4 Marfan syndrome, early-onset 1 0.00041876 0.00083717 0.000000701

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LINS1 Intellectual developmental disorder 2 0.000837521 0.00167364 0.0000028

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

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LMBR1 Triphalangeal thumbs and preaxial polydactyly 1 0.00041876 0.00083717 0.000000701

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LMNA Mandibuloacral dysplasia 1 0.00041876 0.00083717 0.000000701

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LOXHD1 Deafness 6 0.00251256 0.0050125 0.0000251

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LOXL3 Myopia 28 2 0.000837521 0.00167364 0.0000028

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LPL Hyperlipidaemia 1 0.00041876 0.00083717 0.000000701

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LRPPRC Infantile mitochondrial disease, lethal 2 0.000837521 0.00167364 0.0000028

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LRRK1 Osteosclerotic metaphyseal dysplasia 2 0.000837521 0.00167364 0.0000028

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LYST Chediak-Higashi syndrome 2 0.000837521 0.00167364 0.0000028

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MALT1 Immunodeficiency, combined 2 0.000837521 0.00167364 0.0000028

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MAPKBP1 Nephronophthisis, late onset 1 0.00041876 0.00083717 0.000000701

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MCIDAS Ciliary dyskinesia 2 0.000837521 0.00167364 0.0000028

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MEFV Neutrophilic dermatosis 73 0.0305695 0.05927 0.00351294

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MKS1 Parkinson disease, early onset 2 0.000837521 0.00167364 0.0000028

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MMACHC Methylmalonic aciduria and homocystinuria 2 0.000837521 0.00167364 0.0000028

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MMADHC Homocystinuria, cblD type 1 0.00041876 0.00083717 0.000000701

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MMUT Methylmalonic aciduria 1 0.00041876 0.00083717 0.000000701

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MOCOS Thiopurine-induced toxicity 3 0.00125628 0.00250941 0.0000063

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MPL Thrombocytosis, association with 9 0.00376884 0.00750928 0.0000564

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MPLKIP Trichothiodystrophy, nonphotosensitive 1 0.00041876 0.00083717 0.000000701

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MPV17 Mitochondrial DNA depletion syndrome, hepatocerebral 1 0.00041876 0.00083717 0.000000701

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MRE11 Breast cancer 1 0.00041876 0.00083717 0.000000701

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

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MVK Hyper-IgD syndrome 4 0.00167504 0.00334447 0.0000112

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

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MYO5B Diarrhea 2 6 0.00251256 0.0050125 0.0000251

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

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NBN Breast cancer, male 1 0.00041876 0.00083717 0.000000701

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NCF1 Chronic granulomatous disease 8 0.00335008 0.00667772 0.0000446

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NCF2 Chronic granulomatous disease 1 0.00041876 0.00083717 0.000000701

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

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NDUFS1 Neurodevelopmental disorder 1 0.00041876 0.00083717 0.000000701

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NEK1 Amyotrophic lateral sclerosis 1 0.00041876 0.00083717 0.000000701

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

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NKX6-2 Spastic ataxia 8 1 0.00041876 0.00083717 0.000000701

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NPHP1 Nephronophthisis 1 2 0.000837521 0.00167364 0.0000028

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NPHP4 Nephronophthisis 4 2 0.000837521 0.00167364 0.0000028

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NPHS1 Nephrotic syndrome 3 0.00125628 0.00250941 0.0000063

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NR2E3 Retinitis pigmentosa 37 7 0.00293132 0.00584546 0.0000342

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NUBPL Complex I deficiency 1 0.00041876 0.00083717 0.000000701

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OBSL1 Cardiomyopathy, dilated 7 0.00293132 0.00584546 0.0000342

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OCLN Pseudo-TORCH syndrome 1 3 0.00125628 0.00250941 0.0000063

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OPA1 Optic atrophy plus syndrome 1 0.00041876 0.00083717 0.000000701

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ORC4 Lymphoproliferative disorder 2 0.000837521 0.00167364 0.0000028

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ORC6 Meier-Gorlin syndrome 6 0.00251256 0.0050125 0.0000251

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OTOA Hearing loss 2 0.000837521 0.00167364 0.0000028

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OTOF Deafness, non-syndromic 3 0.00125628 0.00250941 0.0000063

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OTOG Hearing loss, sensorineural 3 0.00125628 0.00250941 0.0000063

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OTOGL Hearing impairment 4 0.00167504 0.00334447 0.0000112

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PAH Hyperphenylalaninemia 40 0.0167504 0.0329397 0.00108502

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PANK2 Neurodegeneration with brain iron accumulation 1 4 0.00167504 0.00334447 0.0000112

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PC Hyperinsulinism 1 0.00041876 0.00083717 0.000000701

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PCARE Retinitis pigmentosa 54 8 0.00335008 0.00667772 0.0000446

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PCCB Propionicacidemia 1 0.00041876 0.00083717 0.000000701

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PCDH15 Usher syndrome 1 4 0.00167504 0.00334447 0.0000112

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PDE6B Retinitis pigmentosa, pericentral 1 0.00041876 0.00083717 0.000000701

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PDP1 Tourette syndrome 1 0.00041876 0.00083717 0.000000701

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PEPD Prolidase deficiency 3 0.00125628 0.00250941 0.0000063

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PEX1 Zellweger syndrome 2 0.000837521 0.00167364 0.0000028

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PEX12 Peroxisome biogenesis disorder 3B 1 0.00041876 0.00083717 0.000000701

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PEX16 Peroxisome biogenesis disorder 8B 1 0.00041876 0.00083717 0.000000701

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PEX26 Refsum disease, infantile 1 0.00041876 0.00083717 0.000000701

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PEX6 Peroxisome biogenesis disorder 4B 3 0.00125628 0.00250941 0.0000063

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PGM1 Congenital disorder of glycosylation 1 0.00041876 0.00083717 0.000000701

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PGM3 Fetal alcohol syndrome, predisposition to 2 0.000837521 0.00167364 0.0000028

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PHC1 Primary microcephaly 3 0.00125628 0.00250941 0.0000063

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PHGDH Neu-Laxova syndrome 1 1 0.00041876 0.00083717 0.000000701

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PIGO PIGO deficiency 7 0.00293132 0.00584546 0.0000342

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PJVK Deafness 4 0.00167504 0.00334447 0.0000112

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PKHD1 Polycystic kidney disease 4 5 0.0020938 0.00417884 0.0000175

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PKLR Pyruvate kinase deficiency 18 0.00753769 0.0149617 0.000223854

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PLA2G6 Infantile neuroaxonal dystrophy 2 0.000837521 0.00167364 0.0000028

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PLEKHG5 Myopathy 3 0.00125628 0.00250941 0.0000063

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PLOD1 Ehlers-Danlos syndrome 5 0.0020938 0.00417884 0.0000175

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PMM2 Congenital disorder of glycosylation 1a 3 0.00125628 0.00250941 0.0000063

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PNP Nucleoside phosphorylase deficiency 1 0.00041876 0.00083717 0.000000701

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

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POLG Mitochondrial recessive ataxia syndrome 2 0.000837521 0.00167364 0.0000028

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POR Altered function 1 0.00041876 0.00083717 0.000000701

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

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PRICKLE1 Neural tube defects 1 0.00041876 0.00083717 0.000000701

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

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

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PSAP Combined SAP deficiency 5 0.0020938 0.00417884 0.0000175

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PSAT1 Developmental disorder 3 0.00125628 0.00250941 0.0000063

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

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PTS Tetrahydrobiopterin deficiency 2 0.000837521 0.00167364 0.0000028

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PYGL Glycogen storage disease 6 1 0.00041876 0.00083717 0.000000701

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PYGM McArdle disease 3 0.00125628 0.00250941 0.0000063

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QARS1 Microcephaly 1 0.00041876 0.00083717 0.000000701

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QDPR Dihydropteridine reductase deficiency 2 0.000837521 0.00167364 0.0000028

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RAB3GAP2 Microphthalmia & cataract 10 0.0041876 0.00834014 0.0000696

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RAG1 Omenn syndrome 1 0.00041876 0.00083717 0.000000701

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RAPSN Congenital myasthenic syndrome 2 0.000837521 0.00167364 0.0000028

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RARS2 Pulmonary arterial hypertension 7 0.00293132 0.00584546 0.0000342

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RAX Microphthalmia 2 0.000837521 0.00167364 0.0000028

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RECQL4 Baller-Gerold syndrome 1 0.00041876 0.00083717 0.000000701

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RFXANK MHC class II deficiency 1 0.00041876 0.00083717 0.000000701

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RNASEH2A Aicardi-Goutieres syndrome 4 3 0.00125628 0.00250941 0.0000063

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RNASEH2B Aicardi-Goutières syndrome 1 0.00041876 0.00083717 0.000000701

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RNASEH2C Aicardi-Goutieres syndrome 3 1 0.00041876 0.00083717 0.000000701

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ROBO3 Gaze palsy 1 0.00041876 0.00083717 0.000000701

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ROGDI Kohlschütter-Tönz syndrome 3 0.00125628 0.00250941 0.0000063

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RPGRIP1 Cone-rod dystrophy 13 11 0.00460637 0.00917029 0.0000841

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RTTN Primary microcephaly & primordial dwarfism 3 0.00125628 0.00250941 0.0000063

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RYR1 Congenital myopathy 1B 2 0.000837521 0.00167364 0.0000028

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SACS Spastic ataxia, Charlevoix-Saguenay 2 0.000837521 0.00167364 0.0000028

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SAG Retinitis pigmentosa, autosomal recessive 3 0.00125628 0.00250941 0.0000063

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SBDS Shwachman-Diamond syndrome 4 0.00167504 0.00334447 0.0000112

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SBF1 Charcot-Marie-Tooth disease 3 0.00125628 0.00250941 0.0000063

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SCN4A Paramyotonia congenita 2 0.000837521 0.00167364 0.0000028

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SCN9A Childhood absence epilepsy 1 0.00041876 0.00083717 0.000000701

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

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SEPSECS Cerebellar atrophy 1 0.00041876 0.00083717 0.000000701

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

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SERPINF1 Osteogenesis imperfecta 3 0.00125628 0.00250941 0.0000063

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SGCD Muscular dystrophy 1 0.00041876 0.00083717 0.000000701

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SGCG Muscular dystrophy, limb girdle 32 0.0134003 0.0264415 0.000699155

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

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SI Sucrase isomaltase deficiency 7 0.00293132 0.00584546 0.0000342

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

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SLC12A3 Gitelman syndrome 8 0.00335008 0.00667772 0.0000446

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SLC19A3 Wernicke's-like encephalopathy 1 0.00041876 0.00083717 0.000000701

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SLC22A5 Carnitine deficiency 1 0.00041876 0.00083717 0.000000701

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SLC25A13 Intrahepatic cholestasis, neonatal 3 0.00125628 0.00250941 0.0000063

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SLC25A19 Thiamine metabolism dysfunction syndrome 4 1 0.00041876 0.00083717 0.000000701

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SLC25A20 Carnitine-acylcarnitine translocase deficiency 2 0.000837521 0.00167364 0.0000028

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SLC26A4 Deafness 19 0.00795645 0.0157863 0.000249207

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SLC2A1 Glucose transporter type 1 deficiency syndrome 1 0.00041876 0.00083717 0.000000701

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SLC34A1 ?Fanconi renotubular syndrome 2 3 0.00125628 0.00250941 0.0000063

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SLC35D1 Schneckenbecken dysplasia 1 0.00041876 0.00083717 0.000000701

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SLC37A4 Glycogen storage disease 1b 2 0.000837521 0.00167364 0.0000028

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

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SLC39A14 ?Hyperostosis cranalis interna 1 0.00041876 0.00083717 0.000000701

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SLC3A1 Cystinuria 6 0.00251256 0.0050125 0.0000251

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SLC5A7 Neuronopathy 2 0.000837521 0.00167364 0.0000028

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SLC6A19 Hartnup disorder 2 0.000837521 0.00167364 0.0000028

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SMPD1 Niemann-Pick disease 1 0.00041876 0.00083717 0.000000701

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

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SPATA7 Leber congenital amaurosis 3 2 0.000837521 0.00167364 0.0000028

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SPG11 Charcot-Marie-Tooth disease 4 0.00167504 0.00334447 0.0000112

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SPG7 Spastic paraplegia 5 0.0020938 0.00417884 0.0000175

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SPTA1 Spherocytosis 4 0.00167504 0.00334447 0.0000112

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STRC Deafness, non-syndromic 3 0.00125628 0.00250941 0.0000063

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SVBP Neurodevelopmental disorder with ataxia 3 0.00125628 0.00250941 0.0000063

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TGM1 Ichthyosiform erythroderma, congenital, nonbullous 3 0.00125628 0.00250941 0.0000063

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THOC6 Intellectual disability 2 0.000837521 0.00167364 0.0000028

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TMC1 Deafness 1 0.00041876 0.00083717 0.000000701

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TMCO1 Cerebro-facio-thoracic dysplasia 1 0.00041876 0.00083717 0.000000701

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TMEM107 Oral-facial-digital syndrome 3 0.00125628 0.00250941 0.0000063

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TMEM138 Joubert syndrome 16 4 0.00167504 0.00334447 0.0000112

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TMEM231 Meckel syndrome 2 0.000837521 0.00167364 0.0000028

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TMEM237 Joubert syndrome related disorder 1 0.00041876 0.00083717 0.000000701

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TMEM67 Nephronophthisis 11 4 0.00167504 0.00334447 0.0000112

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TMPRSS3 Hearing loss 4 0.00167504 0.00334447 0.0000112

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

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TPO Thyroid dyshormonogenesis 2A 15 0.00628141 0.0124839 0.000155848

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TPRN Hearing loss 6 0.00251256 0.0050125 0.0000251

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TRAPPC9 Hypogonadotropic hypogonadism, normosmic 1 0.00041876 0.00083717 0.000000701

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TRIOBP Developmental disorder 6 0.00251256 0.0050125 0.0000251

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

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TRMT10A Neurodevelopmental disorder 1 0.00041876 0.00083717 0.000000701

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TRPM1 Night blindness 3 0.00125628 0.00250941 0.0000063

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TSEN54 Intellectual disability & epilepsy 1 0.00041876 0.00083717 0.000000701

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TTC21B Bardet-Biedl syndrome 6 0.00251256 0.0050125 0.0000251

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

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

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TTN Muscular dystrophy 3 0.00125628 0.00250941 0.0000063

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TUBGCP6 Diaphragmatic hernia 3 0.00125628 0.00250941 0.0000063

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TYR Albinism, oculocutaneous 14 0.00586265 0.0116566 0.000135875

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UBR1 Johanson-Blizzard syndrome 2 0.000837521 0.00167364 0.0000028

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UFSP2 ?Hip dysplasia 7 0.00293132 0.00584546 0.0000342

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UPB1 Beta-ureidopropionase deficiency 10 0.0041876 0.00834014 0.0000696

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USH2A Retinitis Pigmentosa 13 0.00544389 0.0108285 0.000117256

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VARS2 Mitochondrial encephalopathy 1 0.00041876 0.00083717 0.000000701

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VDR Rickets 5 0.0020938 0.00417884 0.0000175

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VPS13B Cohen syndrome 5 0.0020938 0.00417884 0.0000175

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VPS33B Arthrogryposis, renal dysfunction and cholestasis 1 0.00041876 0.00083717 0.000000701

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VPS53 Parkinson disease, early onset 1 0.00041876 0.00083717 0.000000701

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VWF von Willebrand disease 9 0.00376884 0.00750928 0.0000564

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WDR35 Short rib-polydactyly syndrome 1 0.00041876 0.00083717 0.000000701

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WDR62 Microcephaly, primary 1 0.00041876 0.00083717 0.000000701

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WHRN Usher syndrome 1 0.00041876 0.00083717 0.000000701

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WRN Werner syndrome 2 0.000837521 0.00167364 0.0000028

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XPNPEP3 NPHP-like kidney disease 1 0.00041876 0.00083717 0.000000701

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XYLT1 Desbuquois dysplasia 2 1 0.00041876 0.00083717 0.000000701

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ZFYVE26 Spastic paraplegia with thin corpus callosum 6 0.00251256 0.0050125 0.0000251

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