| AAAS | Achalasia-addisonianism-alacrimia syndrome | AR |
| AARS | Epileptic encephalopathy, early infantile, Charcot-Marie-Tooth disease | AD/AR |
| AARS1 | Trichothiodystrophy 8, nonphotosensitive | AR |
| AARS2 | Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation deficiency 8 | AR |
| AASS | Hyperlysinemia | AR |
| ABAT | GABA-transaminase deficiency | AR |
| ABCA1 | HDL deficiency, familial, 1 | AD |
| ABCA2 | Intellectual disability and seizures | AR |
| ABCA7 | Alzheimer disease | AD |
| ABCB6 | Microphthalmia, isolated, with coloboma 7 | AD |
| ABCB7 | Anemia, sideroblastic, and spinocerebellar ataxia | XL |
| ABCC6 | Pseudoxanthoma elasticum, forme fruste | AD |
| ABCC8 | Diabetes mellitus, transient neonatal 2 | - |
| ABCD1 | Adrenoleukodystrophy | XLR |
| ABCD3 | ?Bile acid synthesis defect, congenital, 5 | AR |
| ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
| ABHD5 | Chanarin-Dorfman syndrome | AR |
| ACACA | Acetyl-CoA carboxylase deficiency | AR |
| ACAD8 | Isobutyryl-CoA dehydrogenase deficiency | AR |
| ACAD9 | Acyl-CoA dehydrogenase family, deficiency | AR |
| ACADL | Long chain acyl-CoA dehydrogenase deficiency | AD/AR |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency | AR |
| ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
| ACADSB | 2-methylbutyrylglycinuria | AR |
| ACADVL | Acyl-CoA dehydrogenase, very long chain, deficiency | AR |
| ACAT1 | Alpha-methylacetoacetic aciduria | AR |
| ACE | Microvascular complications of diabetes 3 | - |
| ACHE | [Blood group, Yt system] | - |
| ACO2 | Optic atrophy, Infantile cerebellar-retinal degeneration | AD/AR |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | AR |
| ACSF3 | Combined malonic and methylmalonic aciduria | - |
| ACSL4 | Mental retardation, X-linked 63 | XLD |
| ACTA1 | Myopathy | AD/AR |
| ACTA2 | Aortic aneurysm, familial thoracic 6 | AD |
| ACTB | Baraitser-Winter syndrome 1 | AD |
| ACTG1 | Baraitser-Winter syndrome 2 | AD |
| ACTG2 | Visceral myopathy | AD |
| ACTL6B | Epilepitic encephalopathy | AD/AR |
| ACTN4 | Glomerulosclerosis, focal segmental, 1 | AD |
| ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
| ACY1 | Aminoacylase 1 deficiency | AR |
| ADAM10 | 602192 | Alzheimer disease 18, susceptibility to |
| ADAM22 | Early infantile epileptic encephalopathy | AR |
| ADAM22 | ?Developmental and epileptic encephalopathy 61 | AR |
| ADAMTS10 | Weill-Marchesani syndrome 1, recessive | AR |
| ADAMTSL2 | Geleophysic dysplasia 1 | AR |
| ADAR | Dyschromatosis symmetrica hereditaria, Aicardi-Goutières syndrome | AD/AR |
| ADAT3 | Mental retardation, autosomal recessive 36 | AR |
| ADCK3 | Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia | AR |
| ADCY5 | Dyskinesia, familial, with facial myokymia | AD/AR |
| ADGRG1 | Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvian | AR |
| ADGRG6 | Lethal congenital contracture syndrome 9 | AR |
| ADGRV1 | Usher syndrome, type 2C | AR, DD |
| ADK | Hypermethioninemia due to adenosine kinase deficiency | AR |
| ADNP | Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28) | AD |
| ADPRHL2 | Neurodegeneration, childhood-onset, with brain atrophy | AR |
| ADPRS | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | AR |
| ADSL | Adenylosuccinase deficiency | AR |
| AFF2 | Mental retardation, X-linked, FRAXE type | XLR |
| AFF3 | KINSSHIP syndrome | AD |
| AFG3L2 | Spinocerebellar ataxia 28 | AD |
| AGA | Aspartylglucosaminuria | AR |
| AGK | Sengers syndrome | AR |
| AGL | Glycogen storage disease IIIb | AR |
| AGPS | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGRN | Myasthenic syndrome, congenital | AR |
| AGTPBP1 | Neuropathy | AR |
| AGXT | Hyperoxaluria, primary, type 1 | AR |
| AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
| AHDC1 | Xia-Gibbs syndrome | AD |
| AHI1 | Joubert syndrome | AR |
| AIFM1 | Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndrome | XL |
| AIMP2 | Leukodystrophy, hypomyelinating, 17 | AR |
| AK2 | Reticular dysgenesis | AR |
| AKT1 | Proteus syndrome, Cowden syndrome | AD |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
| ALAD | Porphyria, acute hepatic | AR |
| ALAS2 | Protoporphyria, erythropoietic, X-linked | XL |
| ALDH18A1 | Cutis laxa, autosomal dominant 3 | AD |
| ALDH2 | Alcohol sensitivity, acute | AD |
| ALDH3A2 | Sjogren-Larsson syndrome | AR |
| ALDH4A1 | Hyperprolinemia, type II | AR |
| ALDOA | Glycogen storage disease | AR |
| ALDOB | Fructose intolerance, hereditary | AR |
| ALG1 | Congenital disorder of glycosylation, type Ik | AR |
| ALG11 | Congenital disorder of glycosylation, type Ip | AR |
| ALG12 | Congenital disorder of glycosylation, type Ig | AR |
| ALG13 | Congenital disorder of glycosylation | XL |
| ALG14 | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | AR |
| ALG2 | ?Congenital disorder of glycosylation, type Ii | AR |
| ALG3 | Congenital disorder of glycosylation, type Id | AR |
| ALG6 | Congenital disorder of glycosylation | AR |
| ALG6 | Congenital disorder of glycosylation, type Ic | AR |
| ALG8 | Polycystic liver disease 3 with or without kidney cysts | AD |
| ALG9 | Congenital disorder of glycosylation, type Il | AR |
| ALKBH8 | Intellectual disability, autosomal recessive | AR |
| ALPL | Hypophosphatasia, infantile | AR |
| ALS2 | Amyotrophic lateral sclerosis, Spastic paralysis | AR |
| ALX1 | Frontonasal dysplasia 3 | AR |
| ALX3 | Frontonasal dysplasia 1 | AR |
| ALX4 | Craniosynostosis 5, susceptibility to | AD |
| AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect | AR |
| AMMECR1 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | XLR |
| AMPD1 | Myopathy due to myoadenylate deaminase deficiency | AR |
| AMPD2 | Pontocerebellar hypoplasia type 9, Spastic paraplegia 63 | AR |
| AMT | Glycine encephalopathy | AR |
| ANG | Amyotrophic lateral sclerosis | AD |
| ANK2 | Long QT syndrome 4 | AD |
| ANK3 | Mental retardation, autosomal recessive, 37 | AR |
| ANKLE2 | Microcephaly 16, primary, autosomal recessive | AR |
| ANKRD11 | KBG syndrome | AD |
| ANO10 | Spinocerebellar ataxia | AR |
| ANO3 | Dystonia 24 | AD |
| ANO5 | Gnathodiaphyseal dysplasia | AD |
| ANTXR1 | Hemangioma, capillary infantile, susceptibility to, Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) | AD/AR |
| ANTXR2 | Hyaline fibromatosis syndrome | AR |
| ANXA11 | Amytrophic lateral sclerosis 23 | AD |
| AP1S1 | MEDNIK syndrome | AR |
| AP1S2 | Mental retardation, X-linked syndromic 5 | XLR |
| AP2M1 | Epilepitic encephalopathy | AD |
| AP3B1 | Hermansky-Pudlak syndrome 2 | AR |
| AP3B2 | Epileptic encephalopathy, early infantile, 48 | |
| AP4B1 | Spastic paraplegia 47, autosomal recessive | AR |
| AP4B1 | Spastic paraplegia 47, autosomal recessive | AR |
| AP4E1 | Stuttering, familial persistent, 1, Spastic paraplegia 51, autosomal recessive | AD/AR |
| AP4M1 | Spastic paraplegia 50, autosomal recessive | AR |
| AP4M1 | Spastic paraplegia 50, autosomal recessive | AR |
| AP4S1 | Spastic paraplegia 52, autosomal recessive | AR |
| AP5Z1 | Spastic paraplegia 48, autosomal recessive | AR |
| APOE | Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy | AD/AR |
| APOPT1 | Mitochondrial complex IV deficiency | AR |
| APP | Alzheimer disease, Cerebral amyloid angiopathy | AD/AR |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
| ARFGEF2 | Heterotopia, periventricular | AR |
| ARG1 | Hyperargininemia | AR |
| ARHGAP31 | Adams-Oliver syndrome 1 | AD |
| ARHGEF10 | Slowed nerve conduction velocity | AD |
| ARHGEF6 | Intellectual developmental disorder | XL |
| ARHGEF9 | Epileptic encephalopathy, early infantile | XL |
| ARID1A | Coffin-Siris syndrome 2 | AD |
| ARID1B | Coffin-Siris syndrome, Intellectual developmental disorder | AD |
| ARID2 | Coffin-Siris syndrome 6 | AD |
| ARL13B | Joubert syndrome | AR |
| ARL6 | Bardet-Biedl syndrome, Retinitis pigmentosa | AR |
| ARL6IP1 | ?Spastic paraplegia 61, autosomal recessive | AR |
| ARSA | Metachromatic leukodystrophy | AR |
| ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
| ARSL | Chondrodysplasia punctata, X-linked recessive | XLR |
| ARV1 | Developmental and epileptic encephalopathy 38 | AR |
| ARX | Developmental and epileptic encephalopathy 1 | XLR |
| ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosis | AR |
| ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy | AR |
| ASCC1 | Spinal muscular atrophy with congenital bone fractures 2 | AR |
| ASCL1 | Central hypoventilation syndrome, congenital | AD |
| ASH1L | Mental retardation, autosomal dominant 52 | AD |
| ASL | Argininosuccinic aciduria | AR |
| ASNS | Asparagine synthetase deficiency | AR |
| ASPA | Aspartoacylase deficiency (Canavan disease) | AR |
| ASPM | Microcephaly 5, primary, autosomal recessive | AR |
| ASS1 | Citrullinemia | AR |
| ASXL1 | Bohring-Opitz syndrome | AD |
| ASXL2 | Shashi-Pena syndrome | AD |
| ASXL3 | Bainbridge-Ropers syndrome | AD |
| ATAD1 | Hyperekplexia 4 | AR |
| ATAD3A | Harel-Yoon syndrome | AD/AR |
| ATCAY | Ataxia, cerebellar, Cayman | AR |
| ATCAY | Ataxia, cerebellar, Cayman type | AR |
| ATIC | AICA-ribosiduria due to ATIC deficiency | AR |
| ATL1 | Spastic paraplegia, Neuropathy, hereditary sensory | AD |
| ATL3 | Neuropathy, hereditary sensory | AD |
| ATM | Breast cancer, Ataxia-Telangiectasia | AD/AR |
| ATN1 | Dentatorubral-pallidoluysian atrophy | AD |
| ATP13A2 | Parkinson disease (Kufor-Rakeb syndrome) | AR |
| ATP1A1 | Charcot-Marie-Tooth disease | AD |
| ATP1A2 | Migraine, familial hemiplegic, Alternating hemiplegia of childhood, Migraine, familial hemiplegic, 2, Migraine, familial basilar | AD/AR |
| ATP1A3 | Alternating hemiplegia of childhood, Dystonia 12 | AD |
| ATP2A1 | Brody myopathy | AR |
| ATP2A2 | Acrokeratosis verruciformis | AD |
| ATP2B3 | Spinocerebellar ataxia, X-linked 1 | XL |
| ATP5F1A | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 | AR |
| ATP5F1E | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | AR |
| ATP6AP1 | Immunodeficiency 47 | XLR |
| ATP6AP2 | Mental retardation, X-linked, syndromic, Hedera type | XLR |
| ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA | AR |
| ATP6V1A | Cutis laxa, autosomal recessive, type IID, Epileptic encephalopathy | AD/AR |
| ATP7A | Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3 | XL |
| ATP7B | Wilson disease | AR |
| ATP7B | Wilson disease | AR |
| ATP8A2 | Dysequilibrium syndrome | AR |
| ATP8A2 | ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
| ATR | ?Cutaneous telangiectasia and cancer syndrome, familial | AD |
| ATRX | Carpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndrome | XL |
| AUH | 3-methylglutaconic aciduria | AR |
| AUTS2 | Mental retardation, autosomal dominant 26 | AD |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | AR |
| B3GLCT | Peters-plus syndrome | AR |
| B4GALNT1 | Spastic paraplegia 26, autosomal recessive | AR |
| B4GALNT1 | Spastic paraplegia | AR |
| B4GALT1 | Congenital disorder of glycosylation, type IId | AR |
| B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | AR |
| B9D1 | ?Meckel syndrome 9 | AR |
| B9D2 | ?Meckel syndrome 10 | AR |
| BAG3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar | AD |
| BBS1 | Bardet-Biedl syndrome | AR |
| BBS10 | Bardet-Biedl syndrome | AR |
| BBS12 | Bardet-Biedl syndrome | AR |
| BBS2 | Bardet-Biedl syndrome, Retinitis pigmentosa | AR |
| BBS4 | Bardet-Biedl syndrome | AR |
| BBS5 | Bardet-Biedl syndrome | AR |
| BBS7 | Bardet-Biedl syndrome | AR |
| BBS9 | Bardet-Biedl syndrome | AR |
| BCAP31 | Deafness, dystonia, and cerebral hypomyelination | XLR |
| BCKDHA | Maple syrup urine disease, type Ia | AR |
| BCKDHB | Maple syrup urine disease, type Ib | AR |
| BCKDK | Branched-chain ketoacid dehydrogenase kinase deficiency | AR |
| BCL11A | Dias-Logan syndrome | AD |
| BCOR | Microphthalmia, syndromic 2 | XLD |
| BCS1L | GRACILE syndrome | AR |
| BEST1 | Macular dystrophy, vitelliform, 2 | AD |
| BICD2 | Childhood-onset proximal spinal muscular atrophy with contractures | AD |
| BIN1 | Myopathy, centronuclear | AD/AR |
| BLOC1S3 | Hermansky-Pudlak syndrome 8 | AR |
| BLOC1S6 | ?Hermansky-pudlak syndrome 9 | AR |
| BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
| BRAF | Cardiofaciocutaneous syndrome | AD |
| BRAT1 | Rigidity and multifocal seizure syndrome, lethal neonatal | AR |
| BRWD3 | Mental retardation, X-linked 93 | XLR |
| BSCL2 | Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 | AD/AR |
| BSND | Bartter syndrome, type 4a | AR |
| BTD | Biotinidase deficiency | AR |
| BVES | Muscular dystrophy, limb-girdle, autosomal recessive 25 | AR |
| C10ORF2 | Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 | AD/AR |
| C12ORF4 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AR |
| C12ORF57 | Corpus callosum hypoplasia, recessive, Temtamy syndrome | AR |
| C12ORF65 | Spastic paraplegia, Combined oxidative phosphorylation deficiency | AR |
| C19orf12 | Neurodegeneration with brain iron accumulation 4 | AD, AR |
| C19ORF12 | Spastic Paraplegia, Neurodegeneration with brain iron accumulation | AR |
| C1QBP | Combined oxidative phosphorylation deficiency 33 | AR |
| C5ORF42 | Orofaciodigital syndrome VI, Joubert syndrome 17 | AR |
| CA2 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
| CA8 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
| CACNA1A | Migraine, familial hemiplegic, Episodic ataxia, Spinocerebellar ataxia 6, Epileptic encephalopathy, early infantile, 42 | AD |
| CACNA1B | Dystonia 23, Early infantile epileptic encephalopathy | AD/AR |
| CACNA1C | Long QT syndrome 8 | AD |
| CACNA1D | Primary aldosteronism, seizures, and neurologic abnormalities, Sinoatrial node dysfunction and deafness | AD/AR |
| CACNA1E | Epileptic encephalopathy | AD |
| CACNA1F | Aland Island eye disease | XL |
| CACNA1G | Spinocerebellar ataxia 42 | |
| CACNA1H | Childhood absence epilepsy | AD |
| CACNA1S | Thyrotoxic periodic paralysis, susceptibility to, 1 | AD |
| CACNA1S | Hypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis | AD/AR |
| CACNA2D2 | Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessive | AR |
| CACNB2 | Brugada syndrome 4 | - |
| CACNB4 | Episodic ataxia, Epilepsy, idiopathic generalized, susceptibility to, 9 | AD |
| CAD | Epileptic encephalopathy, early infantile, 50 (Congenital disorder of glycosylation, type Iz) | AR |
| CAMK2A | ?Mental retardation, autosomal recessive 63 | AR |
| CAMK2B | Neurodevelopmental disorder | |
| CAMK2G | Mental retardation, autosomal dominant 59 | AD |
| CAMTA1 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
| CAPN1 | Spastic paraplegia 76, autosomal recessive | AR |
| CAPN3 | Muscular dystrophy, limb-girdle, Eosinophilic myositis | AD/AR |
| CARD11 | Immunodeficiency 11A | AR |
| CARS2 | Combined oxidative phosphorylation deficiency 27 | AR |
| CASK | Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Intellectual developmental disorder | XL |
| CASK | Mental retardation, with or without nystagmus | - |
| CASQ1 | Myopathy, vacuolar, with CASQ1 aggregates | AD |
| CASR | Hypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism | AD/AR |
| CAT | Acatalasemia | - |
| CAV1 | Pulmonary hypertension, primary, 3 | AD |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome, Muscular dystrophy, limb-girdle, type IC, Myopathy, distal, Tateyama type, Rippling muscle disease 2 | AD/AR |
| CAVIN1 | Lipodystrophy, congenital generalized, type 4 | AR |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
| CBS | Thrombosis, hyperhomocysteinemic | AR |
| CC2D1A | Mental retardation, autosomal recessive 3 | AR |
| CC2D2A | Meckel syndrome 6 | AR |
| CCDC115 | Congenital disorder of glycosylation, type IIo | AR |
| CCDC22 | Ritscher-Schinzel syndrome 2 | XLR |
| CCDC40 | Ciliary dyskinesia, primary, 15 | AR |
| CCDC47 | Microcephaly, Malformations | AR |
| CCDC78 | ?Centronuclear myopathy 4 | AD |
| CCDC88A | ?PEHO syndrome-like | AR |
| CCDC88C | Spinocerebellar ataxia | AD |
| CCM2 | Cerebral cavernous malformations | AD |
| CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | AD |
| CCNF | Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | AD |
| CCT5 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
| CD320 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect | AR |
| CD59 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
| CD96 | C syndrome | AD |
| CDH11 | Teebi hypertelorism syndrome 2 | AD |
| CDH15 | Mental retardation, autosomal dominant 3 | - |
| CDK5RAP2 | Microcephaly | AR |
| CDK9 | | AR |
| CDKL5 | Epileptic encephalopathy, early infantile, Rett syndrome, atypical, Angelman-like syndrome | XL |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome | AD |
| CDON | Holoprosencephaly | AD |
| CEL | Maturity-onset diabetes of the young, type VIII | AD |
| CENPF | Stromme syndrome | AR |
| CENPF | Ciliary dyskinesia -Lethal Ciliopathy | AR |
| CENPJ | Seckel syndrome, Microcephaly | AR |
| CEP135 | Microcephaly 8, primary, autosomal recessive | AR |
| CEP152 | Seckel syndrome, Microcephaly | AR |
| CEP164 | Nephronophthisis 15 | AR |
| CEP290 | Leber congenital amaurosis 10 | - |
| CEP41 | Joubert syndrome | AR/Digenic |
| CEP63 | Seckel syndrome | AR |
| CERS1 | ?Epilepsy, progressive myoclonic, 8 | AR |
| CERT1 | Mental retardation, autosomal dominant 34 | AD |
| CFAP418 | Retinitis pigmentosa 64 | AR |
| CFL2 | Nemaline myopathy | AR |
| CHAMP1 | Mental retardation, autosomal dominant 40 | AD |
| CHAT | Myasthenic syndrome, congenital | AR |
| CHCHD10 | Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type | AD |
| CHCHD2 | Parkinson disease 22, autosomal dominant | AD |
| CHD1 | Pilarowski-Bjornsson syndrome | AD |
| CHD2 | Epileptic encephalopathy, childhood-onset | AD |
| CHD3 | Snijders Blok-Campeau syndrome | AD |
| CHD7 | CHARGE syndrome | AD |
| CHD8 | Autism, susceptibility to, 18 | AD |
| CHD8 | Autism | AD |
| CHKB | Muscular dystrophy, congenital, megaconial | AR |
| CHMP2B | Amyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementia | AD |
| CHN1 | Duane retraction syndrome 2 | AD |
| CHRNA1 | Myasthenic syndrome, congenital | AD/AR |
| CHRNA2 | Epilepsy, nocturnal frontal lobe | AD |
| CHRNA4 | Epilepsy, nocturnal frontal lobe | AD |
| CHRNB1 | Myasthenic syndrome | AD/AR |
| CHRNB2 | Epilepsy, nocturnal frontal lobe | AD |
| CHRND | Myasthenic syndrome | AD/AR |
| CHRNE | Myasthenic syndrome | AD/AR |
| CHRNG | Multiple pterygium syndrome, Escobar syndrome | AR |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural type 1 | AR |
| CHSY1 | Temtamy preaxial brachydactyly syndrome | AR |
| CIB2 | Usher syndrome, type IJ | AR |
| CIC | Mental retardation, autosomal dominant 45 | AD |
| CILK1 | Endocrine-cerebroosteodysplasia | AR |
| CISD2 | Wolfram syndrome 2 | AR |
| CIT | Microcephaly 17, primary, autosomal recessive | AR |
| CLCN1 | Myotonia congenita, Myotonia congenita, Myotonia levior | AD/AR |
| CLCN2 | Leukoencephalopathy with ataxia, Epilepsy | AD/AR |
| CLCN4 | Mental retardation, X-linked 49 | XL |
| CLCNKA | Bartter syndrome, type 4b, digenic | DR |
| CLCNKB | Bartter syndrome, type 3 | AR |
| CLDN16 | Hypomagnesemia 3, renal | AR |
| CLDN19 | Hypomagnesemia 5, renal, with ocular involvement | AR |
| CLN3 | Neuronal ceroid lipofuscinosis, type 3 | AR |
| CLN5 | Neuronal ceroid lipofuscinosis, type 5 | AR |
| CLN6 | Neuronal ceroid lipofuscinosis, type 6 | AR |
| CLN8 | Neuronal ceroid lipofuscinosis, type 8 | AR |
| CLP1 | Pontocerebellar hypoplasia, type 10 | AR |
| CLPB | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) | AD/AR |
| CLPP | Deafness | AR |
| CLTC | | AD |
| CNBP | Myotonic dystrophy 2 | AD |
| CNGB3 | Achromatopsia 3 | AR |
| CNKSR2 | Epileptic encephalopathy, X-linked mental retardation, Epilepsy and X-linked mental retardation | XL |
| CNNM2 | Hypomagnesemia 6, renal | AD |
| CNOT3 | Intellectual developmental disorder | AD |
| CNPY3 | Epileptic encephalopathy | AR |
| CNTN1 | Myopathy, congenital, Compton-North | AR |
| CNTN6 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD |
| CNTNAP1 | Lethal congenital contracture syndrome 7 | AR |
| CNTNAP2 | Pitt-Hopkins like syndrome, Cortical dysplasia-focal epilepsy syndrome | AR |
| COA5 | ?Mitochondrial complex IV, deficiency, nuclear type 9 | AR |
| COA6 | Mitochondrial complex IV deficiency, nuclear type 13 | AR |
| COA7 | Spinocerebellar ataxia, Charcot-Marie-Tooth disease | AR |
| COA8 | Mitochondrial complex IV deficiency, nuclear type 17 | AR |
| COASY | Neurodegeneration with brain iron accumulation 6 | AR |
| COG1 | Congenital disorder of glycosylation, type IIg | AR |
| COG4 | Congenital disorder of glycosylation, type IIj | AR |
| COG5 | Congenital disorder of glycosylation, type IIi | AR |
| COG6 | Shaheen syndrome | AR |
| COG7 | Congenital disorder of glycosylation, type IIe | AR |
| COG8 | Congenital disorder of glycosylation, type IIh | - |
| COL11A2 | Deafness, autosomal recessive 53 | AR |
| COL12A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy | AD/AR |
| COL13A1 | Myasthenic syndrome, congenital, 19 | AR |
| COL2A1 | Legg-Calve-Perthes disease | AD |
| COL4A1 | Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel disease | AD |
| COL4A2 | Hemorrhage, intracerebral | AD |
| COL4A3BP | Mental retardation, autosomal dominant 34 | AD |
| COL6A1 | Bethlem myopathy, Ullrich congenital muscular dystrophy | AD/AR |
| COL6A2 | Epilepsy, progressive myoclonic, Bethlem myopathy, Myosclerosis, congenital, Ullrich congenital muscular dystrophy | AD/AR |
| COL6A3 | Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophy | AD/AR |
| COLGALT1 | Brain small vessel disease 3 | AR |
| COLQ | Myasthenic syndrome, congenital | AR |
| COMT | Panic disorder, susceptibility to | ?AD |
| COQ2 | Coenzyme Q10 deficiency | AR |
| COQ4 | Coenzyme Q10 deficiency 7 | AR |
| COQ5 | Coenzyme Q10 deficiency | AR |
| COQ6 | Coenzyme Q10 deficiency | AR |
| COQ7 | Coenzyme Q10 deficiency, primary 8 | AR |
| COQ8A | Coenzyme Q10 deficiency, primary, 4 | AR |
| COQ8B | Nephrotic syndrome, type 9 | AR |
| COQ9 | Coenzyme Q10 deficiency | AR |
| COX10 | Mitochondrial complex IV deficiency, nuclear type 3 | AR |
| COX14 | ?Mitochondrial complex IV deficiency, nuclear type 10 | AR |
| COX15 | Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | AR |
| COX20 | Mitochondrial complex IV deficiency | AR |
| COX4I2 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | AR |
| COX6A1 | Charcot-Marie-Tooth disease | AR |
| COX6B1 | Mitochondrial complex IV deficiency | AR |
| COX6B1 | Mitochondrial complex IV deficiency, nuclear type 7 | AR |
| COX7B | Linear skin defects with multiple congenital anomalies 2 | XLD |
| CP | Cerebellar ataxia | AR |
| CPA6 | Febrile seizures, familial, 11 | AR |
| CPLANE1 | Orofaciodigital syndrome VI | AR |
| CPLX1 | | |
| CPOX | Harderoporphyria | AR |
| CPS1 | Carbamoylphosphate synthetase I deficiency | AR |
| CPT1A | CPT deficiency, hepatic, type IA | AR |
| CPT1C | ?Spastic paraplegia 73, autosomal dominant | AD |
| CPT2 | Carnitine palmitoyltransferase II deficiency | AR |
| CRADD | Mental retardation, autosomal recessive 34, with variant lissencephaly | AR |
| CRBN | Mental retardation, autosomal recessive 2 | AR |
| CREBBP | Menke-Hennekam syndrome 1 | AD |
| CRIPT | Short stature with microcephaly and distinctive facies | AR |
| CRLF1 | Cold-induced sweating syndrome 1 | AR |
| CRPPA | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | AR |
| CRYAB | Cataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | AD |
| CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids | AD |
| CSNK2A1 | | AD |
| CSNK2B | Intellectual disability and seizures | AD |
| CSPP1 | Joubert syndrome 21 | AR |
| CSRP3 | ?Cardiomyopathy, dilated, 1M | - |
| CST3 | Macular degeneration, age-related, 11 | - |
| CSTB | Epilepsy, progressive myoclonic | AR |
| CTBP1 | | |
| CTC1 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CTCF | Mental retardation, autosomal dominant 21 | AD |
| CTDP1 | Congenital cataracts, facial dysmorphism, and neuropathy | AR |
| CTNNA2 | Cortical dysplasia, complex, with other brain malformations 9 | AR |
| CTNNA3 | Arrhythmogenic right ventricular dysplasia, familial, 13 | AD |
| CTNNB1 | Ovarian cancer, somatic | - |
| CTNND2 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD |
| CTNS | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| CTSA | Galactosialidosis | AR |
| CTSC | Periodontitis 1, juvenile | AR |
| CTSD | Ceroid lipofuscinosis, neuronal | AR |
| CTSF | Neuronal ceroid lipofuscinosis | AR |
| CTSK | Pycnodysostosis | AR |
| CUL3 | Pseudohypoaldosteronism, type IIE | AD |
| CUL4B | Mental retardation, syndromic, Cabezas | XL |
| CUL7 | 3-M syndrome 1 | AR |
| CUX1 | Global developmental delay with or without impaired intellectual development | AD |
| CUX2 | | |
| CWF19L1 | Spinocerebellar ataxia | AR |
| CX3CR1 | Macular degeneration, age-related, 12 | - |
| CYB5A | Methemoglobinemia and ambiguous genitalia | AR |
| CYB5R3 | Methemoglobinemia, type I | AR |
| CYC1 | Mitochondrial complex III deficiency, nuclear type 6 | AR |
| CYCS | Thrombocytopenia 4 | AD |
| CYFIP2 | Early infantile epileptic encephalopathy, Epilepsy | AD |
| CYFIP2 | Developmental and epileptic encephalopathy 65 | AD |
| CYLD | Trichoepithelioma, multiple familial, 1 | AD |
| CYP11A1 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | - |
| CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| CYP11B2 | Hypoaldosteronism, congenital, due to CMO II deficiency | AR |
| CYP24A1 | Hypercalcemia, infantile, 1 | AR |
| CYP27A1 | Cerebrotendinous xanthomatosis | AR |
| CYP27B1 | Vitamin D-dependent rickets, type I | AR |
| CYP2U1 | Spastic paraplegia 56, autosomal recessive | AR |
| CYP7B1 | Bile acid synthesis defect, Spastic paraplegia 5A, autosomal recessive | AR |
| D2HGDH | D-2-hydroxyglutaric aciduria 1 | AR |
| DAB1 | Spinocerebellar ataxia 37 | AD |
| DAG1 | Muscular dystrophy-dystroglycanopathy | AR |
| DARS | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR |
| DARS1 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR |
| DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
| DBT | Maple syrup urine disease, type II | AR |
| DCAF17 | Woodhouse-Sakati syndrome | AR |
| DCAF8 | Giant axonal neuropathy 2, autosomal dominant | AD |
| DCTN1 | Perry syndrome, Neuropathy, distal hereditary motor | AD |
| DCX | Lissencephaly, Subcortical laminal heterotopia | XL |
| DDC | Aromatic l-amino acid decarboxylase deficiency | AR |
| DDHD1 | Spastic paraplegia 28, autosomal recessive | AR |
| DDHD2 | Spastic paraplegia 54, autosomal recessive | AR |
| DDOST | ?Congenital disorder of glycosylation, type Ir | AR |
| DDX3X | Mental retardation, X-linked 102 | XL |
| DEAF1 | Mental retardation, autosomal dominant 24, Dyskinesia, seizures, and intellectual development disorder | AD |
| DEGS1 | Leukodystrophy, hypomyelinating, 18 | AR |
| DENND5A | Epileptic encephalopathy, early infantile, 49 | AR |
| DEPDC5 | Epilepsy, familial focal, with variable foci | AD |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser type | AD/AR |
| DGUOK | Mitochondrial DNA depletion syndrome, Portal hypertension, noncirrhotic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR |
| DHCR24 | Desmosterolosis | AR |
| DHCR7 | Smith-Lemli-Opitz syndrome | AR |
| DHDDS | Retinitis pigmentosa, Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD/AR |
| DHFR | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
| DHH | 46XY gonadal dysgenesis with minifascicular neuropathy | AR |
| DHODH | Miller syndrome | AR |
| DHPS | Neurodevelopmental disorder with seizures and speech and walking impairment | AR |
| DHTKD1 | 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth disease | AD/AR |
| DHX30 | Neurodevelopmental disorder with severe motor impairment and absent language | AD |
| DIABLO | Deafness, autosomal dominant 64 | AD |
| DIAPH1 | Seizures, cortical blindness, and microcephaly syndrome (SCBMS), Deafness, autosomal dominant 1 | AD/AR |
| DIAPH3 | Auditory neuropathy, autosomal dominant, 1 | AD |
| DIP2B | Mental retardation, FRA12A type | AD |
| DKC1 | Dyskeratosis congenita, X-linked | XLR |
| DKC1 | Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita | XL |
| DLAT | Pyruvate dehydrogenase E2 deficiency | AR |
| DLD | Dihydrolipoamide dehydrogenase deficiency | AR |
| DLG3 | Mental retardation, X-linked 90 | XLR |
| DLG4 | Intellectual developmental disorder 62 | AD |
| DLL3 | Spondylocostal dysostosis 1, autosomal recessive | AR |
| DLX3 | Amelogenesis imperfecta, type IV | AD |
| DMD | Becker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM) | XL |
| DMGDH | Dimethylglycine dehydrogenase deficiency | AR |
| DMPK | Myotonic dystrophy 1 | AD |
| DMXL2 | Deafness, autosomal dominant, 71, Polyendocrine-polyneuropathy syndrome, Epileptic encephalopathy, early infantile | AD/AR |
| DNA2 | ?Seckel syndrome 8 | AR |
| DNAJB2 | Spinal muscular atrophy, distal, Charcot-Marie-Tooth disease | AR |
| DNAJB6 | Muscular dystrophy, limb-girdle | AD |
| DNAJC12 | Hyperphenylalaninemia, mild, non-BH4-deficient, Dystonia, Other hyperphenylalaninemias | AR |
| DNAJC19 | 3-methylglutaconic aciduria | AR |
| DNAJC5 | Kufs disease,, Ceroid lipofuscinosis, neuronal 4, Parry | AD |
| DNAJC6 | Parkinson disease 19b, early-onset | AR |
| DNM1 | Developmental and epileptic encephalopathy 31 | AD |
| DNM1L | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | AD/AR |
| DNM2 | Myopathy, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Charcot-Marie-Tooth disease | AD/AR |
| DNMT1 | Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsy | AD |
| DNMT3A | Tatton-Brown-Rahman syndrome | AD |
| DOCK3 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | AR |
| DOCK6 | Adams-Oliver syndrome 2 | AR |
| DOCK7 | Epilepitic encephalopathy | AR |
| DOCK8 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
| DOK7 | Myasthenic syndrome, congenital | AR |
| DOLK | Congenital disorder of glycosylation | AR |
| DONSON | Microcephaly, short stature, and limb abnormalities (MISSLA), Microcephaly-Micromelia syndrome | AR |
| DPAGT1 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital | AR |
| DPF2 | Coffin-Siris syndrome 7 | AD |
| DPM1 | Congenital disorder of glycosylation | AR |
| DPM2 | Congenital disorder of glycosylation | AR |
| DPM3 | Congenital disorder of glycosylation, Dilated cardiomyopathy (DCM), Limb-girdle muscular dystrophy | AR |
| DPP6 | Ventricular fibrillation, paroxysmal familial, 2 | AD |
| DPYD | 5-fluorouracil toxicity | AD/AR |
| DPYS | Dihydropyriminidase deficiency | AR |
| DRD3 | Schizophrenia, susceptibility to | AD |
| DST | Neuropathy, hereditary sensory and autonomic | AR |
| DSTYK | Spastic paraplegia 23 | AR |
| DTNBP1 | Hermansky-Pudlak syndrome 7 | AR |
| DVL3 | Robinow syndrome, autosomal dominant 3 | AD |
| DYM | Dyggve-Melchior-Clausen disease | AR |
| DYNC1H1 | Spinal muscular atrophy, Charcot-Marie-Tooth disease, Intellectual developmental disorder | AD |
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR, DR |
| DYRK1A | Intellectual developmental disorder | AD |
| DYSF | Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset | AR |
| EARS2 | Combined oxidative phosphorylation deficiency | AR |
| EBF3 | Hypotonia, ataxia, and delayed development syndrome (HADDS) | AD |
| EBP | MEND syndrome | XLR |
| ECEL1 | Arthrogryposis, distal, type 5D | AR |
| ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
| ECM1 | Lipoid proteinosis | AR |
| EDC3 | ?Mental retardation, autosomal recessive 50 | AR |
| EDN3 | Waardenburg syndrome, type 4B | AD, AR |
| EDNRB | Waardenburg syndrome, type 4A | AD, AR |
| EED | Cohen-Gibson syndrome | AD |
| EEF1A2 | Epileptic encephalopathy, early infantile, Intellectual developmental disorder | AD |
| EEF2 | Spinocerebellar ataxia | AD |
| EFHC1 | Epilepsy, myoclonic juvenile, Epilepsy, severe intractable, Epilepsy, juvenile absence | AD/AR |
| EFTUD2 | Mandibulofacial dysostosis, Guion-Almeida type | AD |
| EGF | Hypomagnesemia 4, renal | AR |
| EGR2 | Neuropathy, Dejerine-Sottas disease, Charcot-Marie-Tooth disease | AD/AR |
| EHMT1 | Kleefstra syndrome | AD |
| EIF2B1 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AD/AR |
| EIF2B2 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR |
| EIF2B3 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR |
| EIF2B4 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR |
| EIF2B5 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR |
| EIF2S3 | MEHMO syndrome | XLR |
| EIF3F | Intellectual disability, autosomal recessive | AR |
| EIF4G1 | Parkinson disease 18 | AD |
| ELAC2 | Prostate cancer, hereditary, 2, susceptibility to | - |
| ELK1 | Intellectual developmental disorder | XL |
| ELOVL4 | Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia | AD/AR |
| ELOVL5 | Spinocerebellar ataxia | AD |
| ELP1 | Dysautonomia, familial | AR |
| ELP2 | Mental retardation, autosomal recessive 58 | AR |
| EMC10 | Neurodevelopmental disorder with dysmorphic facies and variable seizures | AR |
| EMD | Emery-Dreifuss muscular dystrophy | XL |
| EML1 | Band heterotopia | AR |
| EMX2 | Schizencephaly | - |
| EMX2 | Schizencephaly | AD |
| EN2 | Autism | AD |
| ENO3 | ?Glycogen storage disease XIII | AR |
| ENTPD1 | Spastic paraplegia 64, autosomal recessive | AR |
| EP300 | Rubinstein-Taybi syndrome 2 | AD |
| EPB41L1 | ?Mental retardation, autosomal dominant 11 | AD |
| EPG5 | Vici syndrome | AR |
| EPHX2 | Hypercholesterolemia, familial, due to LDLR defect, modifier of | AD, AR |
| EPM2A | Epilepsy, progressive myoclonic | AR |
| EPRS | Leukodystrophy, hypomyelinating | AR |
| EPRS1 | Leukodystrophy, hypomyelinating, 15 | AR |
| ERBB4 | Amyotrophic lateral sclerosis 19 | AD |
| ERCC1 | Cerebrooculofacioskeletal syndrome 4 | AR |
| ERCC2 | ?Cerebrooculofacioskeletal syndrome 2 | AR |
| ERCC5 | Xeroderma pigmentosum, group G | AR |
| ERCC6 | Lung cancer, susceptibility to | AD, SM |
| ERCC8 | Cockayne syndrome, type A | AR |
| ERLIN1 | Spastic paraplegia 62 | AR |
| ERLIN2 | Spastic paraplegia 18, autosomal recessive | AR |
| ESCO2 | Roberts syndrome | AR |
| ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency | AR |
| ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency | AR |
| ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency | AR |
| ETHE1 | Ethylmalonic encephalopathy | AR |
| EWSR1 | Ewing sarcoma | - |
| EXOC6B | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | AR |
| EXOSC3 | Pontocerebellar hypoplasia, type 1B | AR |
| EXOSC8 | Pontocerebellar hypoplasia, type 1C | AR |
| EXOSC9 | Pontocerebellar hypoplasia, type 1D | AR |
| EXT1 | Chondrosarcoma | SM |
| EZH2 | Weaver syndrome | AD |
| F2 | Dysprothrombinemia | AR |
| F5 | Pregnancy loss, recurrent, susceptibility to, 1 | AD |
| FA2H | Spastic paraplegia | AR |
| FADD | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR |
| FAH | Tyrosinemia, type I | AR |
| FAM126A | Leukodystrophy, hypomyelinating | AR |
| FAM134B | Neuropathy, hereditary sensory and autonomic | AR |
| FAN1 | Interstitial nephritis, karyomegalic | AR |
| FANCB | Fanconi anemia, complementation group B | XLR |
| FANCB | Fanconi anemia | XL |
| FAR1 | Peroxisomal fatty acyl-CoA reductase 1 disorder | AR |
| FARS2 | Combined oxidative phosphorylation deficiency 14, Spastic paraplegia 77, autosomal recessive | AR |
| FARSB | Rajab interstitial lung disease with brain calcifications 1 | AR |
| FASTKD2 | Combined oxidative phosphorylation deficiency 44 | AR |
| FAT2 | Spinocerebellar ataxia 45 | AD |
| FAT4 | Van Maldergem syndrome 2 | AR |
| FBLN5 | Cutis laxa, Macular degeneration, age-related | AD/AR |
| FBN1 | Marfan lipodystrophy syndrome | AD |
| FBN2 | Contractural arachnodactyly, congenital | AD |
| FBXL4 | Mitochondrial DNA depletion syndrome | AR |
| FBXO11 | Intellectual developmental disorder | AD |
| FBXO38 | Neuronopathy, distal hereditary motor | AD |
| FBXO7 | Parkinson disease 15, autosomal recessive | AR |
| FDFT1 | Growth retardation, developmental delay, and facial dysmorphism | AR |
| FDX1L | Myopathy | AR |
| FDX2 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
| FDXR | Auditory neuropathy and optic atrophy | AR |
| FECH | Protoporphyria, erythropoietic, 1 | AR |
| FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia | AR |
| FGA | Hypodysfibrinogenemia, congenital | - |
| FGD1 | Aarskog-Scott syndrome | XLR |
| FGD4 | Charcot-Marie-Tooth disease | AR |
| FGF10 | Aplasia of lacrimal and salivary glands | AD |
| FGF12 | Epileptic encephalopathy, early infantile, 47 | AD |
| FGF14 | Spinocerebellar ataxia | AD |
| FGF8 | Hypogonadotropic hypogonadism | AD/Digenic |
| FGFR1 | Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Hartsfield syndrome | AD/Digenic/Multigenic |
| FGFR2 | Crouzon syndrome | AD |
| FGFR3 | Achondroplasia | AD |
| FH | Fumarase deficiency | AR |
| FHL1 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset | XL |
| FIG4 | Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth disease | AD/AR |
| FITM2 | Dystonia, Deafness | AR |
| FKBP10 | Osteogenesis imperfecta, type XI | AR |
| FKBP14 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | AR |
| FKRP | Muscular dystrophy-dystroglycanopathy | AR |
| FKTN | Muscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle) | AR |
| FLAD1 | Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) | AR |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects, Periventricular nodular heterotopia 1, Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome, Cardiac valvular dysplasia, X-linked | XL |
| FLNC | Cardiomyopathy, familial restrictive 5 | AD |
| FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa | AR |
| FLVCR2 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | AR |
| FMN2 | Mental retardation, autosomal recessive 47 | AR |
| FMR1 | Premature ovarian failure, Fragile X syndrome, Fragile X tremor/ataxia syndrome | XL |
| FOLR1 | Cerebral folate deficiency | AR |
| FOXC1 | Anterior segment dysgenesis 3, multiple subtypes | AD |
| FOXG1 | Rett syndrome, congenital variant | AD |
| FOXH1 | Congenital heart malformations, Holoprosencephaly | AD |
| FOXL2 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | AD, AR |
| FOXP1 | Mental retardation with language impairment and autistic features, Congenital heart malformations | AD |
| FOXP2 | Speech-language disorder-1 | AD |
| FOXRED1 | Leigh syndrome, Mitochondrial complex I deficiency | AR |
| FRMD7 | Nystagmus, infantile periodic alternating, X-linked | XL |
| FRMPD4 | Mental retardation, X-linked 104 | XL |
| FRRS1L | Epileptic encephalopathy, early infantile, 37 | AR |
| FTL | Neurodegeneration with brain iron accumulation 3 | AD |
| FTO | Growth retardation, developmental delay, facial dysmorphism | AR |
| FTSJ1 | Mental retardation, X-linked 9/44 | XLR |
| FUCA1 | Fucosidosis | AR |
| FUS | Amyotrophic lateral sclerosis, Essential tremor | AD/AR |
| FUT8 | Congenital disorder of glycosylation | AR |
| FXN | Friedreich ataxia | AR |
| FXR1 | ?Myopathy, congenital, with respiratory insufficiency and bone fractures | AR |
| FXYD2 | Hypomagnesemia 2, renal | AD |
| G6PD | Resistance to malaria due to G6PD deficiency | - |
| GAA | Glycogen storage disease | AR |
| GABBR2 | Epileptic encephalopathy | AD |
| GABRA1 | Epileptic encephalopathy, early infantile, Epilepsy, childhood absence, Epilepsy, juvenile myoclonic | AD |
| GABRA1 | Developmental and epileptic encephalopathy 19 | AD |
| GABRA2 | Alcohol dependence, susceptibility to | MF |
| GABRA5 | Developmental and epileptic encephalopathy 79 | AD |
| GABRB1 | Epileptic encephalopathy, early infantile, 45 | AD |
| GABRB2 | Epileptic encephalopathy | AD |
| GABRB3 | Epilepsy, childhood absence | AD |
| GABRD | Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to | AD |
| GABRG2 | Developmental and epileptic encephalopathy 74 | AD |
| GAD1 | ?Cerebral palsy, spastic quadriplegic, 1 | AR |
| GALC | Krabbe disease | AR |
| GALNS | Mucopolysaccharidosis IVA | AR |
| GALT | Galactosemia | AR |
| GAMT | Guanidinoacetate methyltransferase deficiency | AR |
| GAN | Giant axonal neuropathy | AR |
| GARS | Neuropathy, distal hereditary motor, Charcot-Marie-Tooth disease | AD |
| GARS1 | Spinal muscular atrophy, infantile, James type | AD |
| GATAD2B | GAND syndrome | AD |
| GATM | Arginine:glycine amidinotransferase deficiency | AD/AR |
| GBA | Lewy body dementia, susceptibility to | AD |
| GBA2 | Cerebellar ataxia with spasticity | AR |
| GBE1 | Glycogen storage disease | AR |
| GCDH | Glutaric aciduria | AR |
| GCH1 | Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia | AD/AR |
| GCK | Diabetes mellitus, permanent neonatal 1 | AR |
| GCSH | Glycine encephalopathy | AR |
| GDAP1 | Charcot-Marie-Tooth disease | AD/AR |
| GDI1 | Mental retardation, X-linked 41 | XLD |
| GDNF | Pheochromocytoma, modifier of | AD |
| GFAP | Alexander disease | AD |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay | AR |
| GFM1 | Combined oxidative phosphorylation deficiency | AR |
| GFM2 | Combined oxidative phosphorylation deficiency | AR |
| GFPT1 | Myasthenic syndrome, congenital | AR |
| GIGYF2 | Parkinson disease 11 | - |
| GJA1 | Oculodentodigital dysplasia, autosomal recessive | AR |
| GJB1 | Charcot-Marie-Tooth neuropathy | XL |
| GJB3 | Deafness, autosomal dominant 2B | AD |
| GJC2 | Spastic paraplegia, Lymphedema, hereditary, Leukodystrophy, hypomyelinating | AD/AR |
| GK | Glycerol kinase deficiency | XLR |
| GLA | Fabry disease | XL |
| GLB1 | GM1-gangliosidosis, type II | AR |
| GLDC | Glycine encephalopathy | AR |
| GLDN | Lethal congenital contracture syndrome 11 | AR |
| GLE1 | Congenital arthrogryposis with anterior horn cell disease | AR |
| GLI2 | Culler-Jones syndrome | AD |
| GLI3 | Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 | AD |
| GLRA1 | Hyperekplexia 1 | AD, AR |
| GLRB | Hyperekplexia 2 | AR |
| GLRX5 | Spasticity, childhood-onset, with hyperglycinemia | AR |
| GLS | | |
| GLUD1 | Hyperinsulinism-hyperammonemia syndrome | AD |
| GLUL | Glutamine deficiency, congenital | AR |
| GLYCTK | D-glyceric aciduria | AR |
| GM2A | GM2-gangliosidosis, AB variant | AR |
| GMPPA | Alacrima, achalasia, and mental retardation syndrome | AR |
| GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathy | AR |
| GNAL | Primary torsion dystonia | AD |
| GNAO1 | Epileptic encephalopathy, early infantile, Epileptic encephalopathy, early infantile, 17 | AD |
| GNAQ | Capillary malformations, congenital, 1, somatic, mosaic | - |
| GNAS | Pseudohypoparathyroidism Ic | AD |
| GNB1 | Mental retardation, autosomal dominant 42 | AD |
| GNB4 | Charcot-Marie-Tooth disease | AD |
| GNB5 | Intellectual developmental disorder with cardiac arrhythmia | AR |
| GNE | Proximal myopathy and ophthalmoplegia, Nonaka myopathy, Sialuria | AD/AR |
| GNPAT | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNPTAB | Mucolipidosis III alpha/beta | AR |
| GNPTG | Mucolipidosis III gamma | AR |
| GNS | Mucopolysaccharidosis type IIID | AR |
| GOLGA2 | Microcephaly, seizures, and developmental delay | AR |
| GOSR2 | Epilepsy, progressive myoclonic 6 | AR |
| GOT2 | Epileptic encephalopathy, early infantile, 82 | AR |
| GPAA1 | Cerebellar atrophy, developmental delay, and seizures (CADEDS) | AR |
| GPC3 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| GPC4 | Keipert syndrome | XLR |
| GPC6 | Omodysplasia 1 | AR |
| GPHN | Hyperekplexia, Molybdenum cofactor deficiency | AD/AR |
| GPHN | Molybdenum cofactor deficiency C | AR |
| GPI | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | AR |
| GPR143 | Nystagmus, congenital, Ocular albinism | XL |
| GPSM2 | Deafness, Chudley-McCullough syndrome | AR |
| GPT2 | Neurodevelopmental disorder with microcephaly and spastic paraplegia | AR |
| GPX1 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
| GRHPR | Hyperoxaluria, primary, type II | AR |
| GRIA1 | Intellectual developmental disorder, autosomal dominant 67 | - |
| GRIA2 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | AD |
| GRIA3 | Intellectual developmental disorder | XL |
| GRIA4 | Intellectual disability and seizures | |
| GRID2 | Spinocerebellar ataxia | AR |
| GRIK2 | Mental retardation, autosomal recessive 6 | AR |
| GRIN1 | Beck-Fahrner syndrome, Mental retardation, autosomal dominant 8 | AD/AR |
| GRIN2A | Epilepsy, focal, with speech disorder | AD |
| GRIN2B | Epileptic encephalopathy, early infantile, Intellectual developmental disorder | AD |
| GRIN2D | Epileptic encephalopathy, early infantile, 46 | AD |
| GRIP1 | Fraser syndrome 3 | AR |
| GRM1 | Spinocerebellar ataxia | AD/AR |
| GRN | Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosis | AD/AR |
| GSN | Amyloidosis, Finnish type | AD |
| GSR | Hemolytic anemia due to glutathione reductase deficiency | AR |
| GSS | Glutathione synthetase deficiency | AR |
| GTPBP2 | Jaberi-Elahi syndrome | AR |
| GTPBP3 | Combined oxidative phosphorylation deficiency 23 | AR |
| GUF1 | Epileptic encephalopathy, early infantile 40 | |
| GUSB | Mucopolysaccharidosis VII | AR |
| GYG1 | Glycogen storage disease, Polyglucosan body myopathy 2 | AR |
| GYS1 | Glycogen storage disease | AR |
| HACE1 | Spastic paraplegia and psychomotor retardation with or without seizures | AR |
| HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| HADHA | Trifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| HADHB | Trifunctional protein deficiency | AR |
| HAMP | Hemochromatosis, type 2B | AR |
| HARS | Charcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3B | AD/AR |
| HARS2 | Perrault syndrome | AR |
| HAX1 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HBB | Erythrocytosis 6 | AD |
| HCCS | Linear skin defects with multiple congenital anomalies 1 (MIDAS syndrome) | XL |
| HCFC1 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | XLR |
| HCN1 | Epileptic encephalopathy, early infantile | AD |
| HCN2 | Epilepsy | AD/AR |
| HDAC4 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | AD |
| HDAC8 | Cornelia de Lange syndrome 5 | XLD |
| HECW2 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts, remitting | AD/AR |
| HERC2 | [Skin/hair/eye pigmentation 1, blond/brown hair] | AR |
| HESX1 | Septooptic dysplasia, Pituitary hormone deficiency, combined, Isolated growth hormone deficiency | AR/AD |
| HEXA | Tay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiency | AR |
| HEXB | Sandhoff disease | AR |
| HEXB | Sandhoff disease, infantile, juvenile, and adult forms | AR |
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C) | AR |
| HIBCH | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
| HIKESHI | Leukodystrophy, hypomyelinating, 13 | AR |
| HINT1 | Axonal neuropathy with neuromyotonia | AR |
| HIVEP2 | Mental retardation, autosomal dominant 43 | AD |
| HK1 | Retinitis pigmentosa 79 | AD |
| HLCS | Holocarboxylase synthetase deficiency | AR |
| HMBS | Porphyria, acute intermittent | AD |
| HMGCL | HMG-CoA lyase deficiency | AR |
| HMGCS2 | HMG-CoA synthase-2 deficiency | AR |
| HNMT | Asthma, susceptibility to | AD |
| HNRNPA1 | Amyotrophic lateral sclerosis 20 | AD |
| HNRNPA2B1 | ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | AD |
| HNRNPDL | Muscular dystrophy, limb-girdle, type 1G | AD |
| HNRNPH2 | Mental retardation, X-linked, syndromic, Bain type | XLD |
| HNRNPR | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | - |
| HNRNPU | Intellectual disability and seizures | AD |
| HOGA1 | Hyperoxaluria, primary, type III | AR |
| HOXA1 | Bosley-Salih-Alorainy syndrome | AR |
| HOXD10 | Vertical talus, congenital | AD |
| HPCA | Dystonia 2, torsion, autosomal recessive | AR |
| HPD | Hawkinsinuria | AD |
| HPRT1 | Lesch-Nyhan syndrome, Kelley-Seegmiller syndrome | XL |
| HPS1 | Hermansky-Pudlak syndrome 1 | AR |
| HPS4 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | Hermansky-Pudlak syndrome 6 | AR |
| HRAS | Thyroid carcinoma, follicular, somatic | - |
| HSD11B1 | Cortisone reductase deficiency 2 | AD |
| HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic | XL |
| HSD17B4 | Perrault syndrome 1 | AR |
| HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HSPA9 | Even-plus syndrome | AR |
| HSPB1 | Neuropathy, distal hereditary motor, Charcot-Marie-Tooth disease | AD |
| HSPB3 | ?Neuronopathy, distal hereditary motor, type IIC | AD |
| HSPB8 | Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathy | AD |
| HSPD1 | Leukodystrophy, hypomyelinating, 4 | AR |
| HSPG2 | Schwartz-Jampel syndrome, type 1 | AR |
| HTRA1 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2), Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | AD/AR |
| HTRA2 | Parkinson disease 13 | - |
| HTT | Huntington disease, Lopes-Maciel-Rodan syndrome (LOMARS) | AD/AR |
| HUWE1 | Mental retardation, X-linked syndromic, Turner type | XL |
| HYAL1 | ?Mucopolysaccharidosis type IX | AR |
| HYDIN | Ciliary dyskinesia, primary, 5 | AR |
| IARS2 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
| IBA57 | Multiple mitochondrial dysfunctions syndrome 3, Spastic paraplegia 74, autosomal recessive | AR |
| ICK | Endocrine-cerebroosteodysplasia, Epilepsy, juvenile myoclonic | AD/AR |
| IDH2 | D-2-hydroxyglutaric aciduria 2 | - |
| IDH3B | Retinitis pigmentosa 46 | AR |
| IDS | Mucopolysaccharidosis II | XLR |
| IDUA | Mucopolysaccharidosis Is | AR |
| IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome | AR |
| IFIH1 | Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7 | AD/AR |
| IFT140 | Retinitis pigmentosa 80 | AR |
| IFT172 | Retinitis pigmentosa 71 | AR |
| IFT27 | ?Bardet-Biedl syndrome 19 | AR |
| IGBP1 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | XL |
| IGF1 | Growth retardation with deafness and mental retardation due to IGF1 deficiency | AR |
| IGF1R | Insulin-like growth factor I, resistance to | AD, AR |
| IGHMBP2 | Spinal muscular atrophy, distal, Charcot-Marie-Tooth disease | AR |
| IKBKAP | Dysautonomia, familial, Hereditary sensory and autonomic neuropathy | AR |
| IL1RAPL1 | Mental retardation, X-linked 21/34 | XLR |
| IMPA1 | Mental retardation, autosomal recessive 59 | AR |
| INF2 | Glomerulosclerosis, Charcot-Marie-Tooth disease | AD |
| INPP5E | Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome) | AR |
| INPP5K | Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) | AR |
| INVS | Nephronophthisis 2, infantile | AR |
| IQSEC2 | Intellectual developmental disorder | XL |
| IRF2BPL | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD |
| IRX5 | Hamamy syndrome | AR |
| ISCA1 | Multiple mitochondrial dysfunctions syndrome 5 | AR |
| ISCA2 | Multiple mitochondrial dysfunctions syndrome 4 | AR |
| ISCU | Myopathy with lactic acidosis | AR |
| ISPD | Muscular dystrophy-dystroglycanopathy | AR |
| ITGA7 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | AR |
| ITGB3 | Glanzmann thrombasthenia 2 | - |
| ITM2B | Dementia, familial Danish, Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, Cerebral amyloid angiopathy | AD |
| ITPA | Epileptic encephalopathy, early infantile, 35 | AR |
| ITPR1 | Spinocerebellar ataxia | AD |
| IVD | Isovaleric acidemia | AR |
| JAG1 | Alagille syndrome 1 | AD |
| JAM2 | Basal ganglia calcification, idiopathic, 8, autosomal recessive | AR |
| JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | AR |
| KANK1 | Cerebral palsy, spastic quadriplegic, 2 | - |
| KANSL1 | Koolen-De Vries syndrome | AD |
| KARS | Charcot-Marie-Tooth disease, Deafness, autosomal recessive, Leukoencephalopathy | AR |
| KARS1 | ?Charcot-Marie-Tooth disease, recessive intermediate, B | AR |
| KAT6A | Arboleda-Tham syndrome | AD |
| KAT6B | SBBYSS syndrome | AD |
| KAT8 | Li-Ghorgani-Weisz-Hubshman syndrome | AD |
| KATNB1 | Lissencephaly 6, with microcephaly | AR |
| KBTBD13 | Nemaline myopathy | AD |
| KCNA1 | Episodic ataxia/myokymia syndrome | AD |
| KCNA2 | Epileptic encephalopathy, early infantile | AD |
| KCNB1 | Early infantile epileptic encephalopathy | AD |
| KCNC1 | Epilepsy, progressive myoclonic | AD |
| KCNC3 | Spinocerebellar ataxia | AD |
| KCND3 | Brugada syndrome, Spinocerebellar ataxia 19, Spinocerebellar ataxia 22 | AD |
| KCND3 | Brugada syndrome 9 | AD |
| KCNE3 | ?Brugada syndrome 6 | - |
| KCNH1 | Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1 | AD/AR |
| KCNJ1 | Bartter syndrome, type 2 | AR |
| KCNJ10 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueduct | AR/Digenic |
| KCNJ2 | Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillation | AD |
| KCNK18 | Migraine, with or without aura, susceptibility to, 13 | AD |
| KCNK4 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | AD |
| KCNK9 | Birk-Barel syndrome | - |
| KCNMA1 | Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy (PNKD3), Cerebellar atrophy, developmental delay, and seizures (CADEDS) | AD/AR |
| KCNQ2 | Epileptic encephalopathy, early infantile, Benign familial neonatal seizures, Myokymia | AD |
| KCNQ3 | Seizures, benign neonatal | AD |
| KCNQ5 | Mental retardation, autosomal dominant 46 | AD |
| KCNT1 | Epilepsy, nocturnal frontal lobe | AD |
| KCNT2 | Epileptic encephalopathy | AD |
| KCTD17 | Dystonia 26, myoclonic | AD |
| KCTD3 | Epileptic encephalopathy | AR |
| KCTD7 | Epilepsy, progressive myoclonic | AR |
| KDM1A | Cleft palate, psychomotor retardation, and distinctive facial features | AD |
| KDM4B | Intellectual developmental disorder, autosomal dominant 65 | AD |
| KDM5B | Mental retardation, autosomal recessive 65 | AR |
| KDM5C | Mental retardation, syndromic, Claes-Jensen | XL |
| KDM6A | Kabuki syndrome 2 | XLD |
| KIAA0196 | Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome) | AD/AR |
| KIAA1109 | Alkuraya-Kucinskas syndrome | AR |
| KIAA1715 | | AR |
| KIAA2022 | Intellectual developmental disorder | XL |
| KIDINS220 | Ventriculomegaly and arthrogryposis | AR |
| KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | AD |
| KIF14 | ?Meckel syndrome 12 | AR |
| KIF1A | Spastic paraplegia, Neuropathy, hereditary sensory, Intellectual developmental disorder | AD/AR |
| KIF1B | Pheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth disease, type 2A1 | AD |
| KIF1BP | Goldberg-Shprintzen megacolon syndrome | AR |
| KIF1C | Spastic ataxia 2, autosomal recessive | AR |
| KIF21A | Fibrosis of extraocular muscles, congenital, 3B | AD |
| KIF2A | Cortical dysplasia, complex, with other brain malformations 3 | AD |
| KIF5C | Cortical dysplasia, complex, with other brain malformations 2 | AD |
| KIF7 | Joubert syndrome 12 | AR |
| KIFBP | Goldberg-Shprintzen megacolon syndrome | AR |
| KLF8 | Intellectual developmental disorder | XL |
| KLHL40 | Nemaline myopathy | AR |
| KLHL41 | Nemaline myopathy | AR |
| KLHL7 | PERCHING syndrome | AR |
| KMT2A | Wiedemann-Steiner syndrome | AD |
| KMT2B | Dystonia 28, childhood-onset | AD |
| KMT2C | Kleefstra syndrome 2 | AD |
| KMT2D | Kabuki syndrome 1 | AD |
| KMT2E | Neurodevelopmental disorder | AD |
| KMT5B | Developmental delay and seizures with or without movement abnormalities (DEDSM), Autism spectrum disorder, overgrowth syndrome with intellectual disability | AD |
| KMT5B | Mental retardation, autosomal dominant 51 | AD |
| KNL1 | Microcephaly 4, primary, autosomal recessive | AR |
| KPTN | Mental retardation, autosomal recessive 41 | AR |
| KRAS | Arteriovenous malformation of the brain, somatic | - |
| KRIT1 | Cerebral cavernous malformations | AD |
| KRT5 | Epidermolysis bullosa simplex-MP | AD |
| KRT8 | Cirrhosis, cryptogenic | AR |
| KY | Myopathy, myofibrillar, 7 | AR |
| L1CAM | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | XLR |
| L2HGDH | L-2-hydroxyglutaric aciduria | AR |
| LAMA1 | Poretti-Boltshauser syndrome | AR |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient | AR |
| LAMB1 | Lissencephaly 5 | AR |
| LAMB2 | Nephrotic syndrome, Pierson syndrome | AR |
| LAMC3 | Cortical malformations, occipital | AR |
| LAMP2 | Danon disease | XL |
| LARGE | Muscular dystrophy-dystroglycanopathy | AR |
| LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | AR |
| LARS2 | Perrault syndrome, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) | AR |
| LAS1L | Spinal muscular atrophy with respiratory distress | XL |
| LAT | Immunodeficiency 52 | AR |
| LBR | ?Reynolds syndrome | AD |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar | AD |
| LDHA | Glycogen storage disease XI | AR |
| LEP | Obesity, morbid, due to leptin deficiency | AR |
| LGI1 | Epilepsy, familial temporal lobe | AD |
| LGI4 | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | AR |
| LHX3 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | Pituitary hormone deficiency, combined, 4 | AD |
| LIAS | Pyruvate dehydrogensae lipoic acid synthetase deficiency | AR |
| LIG4 | Severe combined immunodeficiency with sensitivity to ionizing radiation, LIG4 syndrome | AR |
| LIMS2 | Muscular dystrophy, limb-girdle | AR |
| LINS1 | Mental retardation, autosomal recessive 27 | AR |
| LIPA | Wolman disease | AR |
| LIPT1 | Lipoyltransferase 1 deficiency | AR |
| LIPT2 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | AR |
| LITAF | Charcot-Marie-Tooth disease | AD |
| LMAN2L | ?Mental retardation, autosomal recessive, 52 | AR |
| LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
| LMNA | Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type | AD/AR |
| LMNB1 | Leukodystrophy, demyelinating, adult-onset, autosomal dominant | AD |
| LMNB2 | Liopdystrophy, partial, acquired, Epilepsy, progressive myoclonic, 9 | AD/AR |
| LMOD3 | Severe congenital nemaline myopathy, Typical nemaline myopathy | AR |
| LMX1B | Nail-patella syndrome | AD |
| LONP1 | CODAS syndrome | AR |
| LPIN1 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
| LRBA | Immunodeficiency, common variable, 8, with autoimmunity | AR |
| LRP1 | ?Keratosis pilaris atrophicans | AR |
| LRP2 | Donnai-Barrow syndrome | AR |
| LRP4 | ?Myasthenic syndrome, congenital, 17 | AR |
| LRPPRC | Leigh syndrome, French-Canadian type | AR |
| LRRK2 | Parkinson disease 8 | AD |
| LRSAM1 | Charcot-Marie-Tooth disease | AD/AR |
| LYRM7 | Mitochondrial complex III deficiency, nuclear type 8 | AR |
| LYST | Chediak-Higashi syndrome | AR |
| LZTFL1 | Bardet-Biedl syndrome 17 | AR |
| MACF1 | Lissencephaly | AD |
| MAF | Ayme-Gripp syndrome | AD |
| MAG | Spastic paraplegia 75, autosomal recessive | AR |
| MAGEL2 | Schaaf-Yang syndrome | AD |
| MAGI2 | Nephrotic syndrome 15 | AR |
| MAGT1 | Congenital disorder of glycosylation, type Icc | XLR |
| MAMLD1 | Hypospadias 2, X-linked | XLR |
| MAN1B1 | Rafiq syndrome | AR |
| MANBA | Mannosidosis, beta | AR |
| MAOA | Antisocial behavior | XLR |
| MAP2K1 | Cardiofaciocutaneous syndrome 3 | AD |
| MAP2K2 | Cardiofaciocutaneous syndrome 4 | AD |
| MAP3K20 | Centronuclear myopathy | AR |
| MAPT | Pick disease, Frontotemporal dementia, Parkinson-dementia syndrome, Supranuclear palsy, progressive | AD/AR |
| MARS | Interstitial lung and liver disease, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, type 2U | AD/AR |
| MARS1 | Charcot-Marie-Tooth disease, axonal, type 2U | AD |
| MARS2 | Combined oxidative phosphorylation deficiency | AR |
| MASP1 | 3MC syndrome 1 | AR |
| MATR3 | Amyotrophic lateral sclerosis 21 | AD |
| MBD5 | Intellectual developmental disorder | AD |
| MBOAT7 | Mental retardation, autosomal recessive 57 | AR |
| MBTPS2 | Osteogenesis imperfecta, type XIX | XLR |
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCEE | Methylmalonyl-CoA epimerase deficiency | AR |
| MCM3AP | Charcot-Marie-Tooth neuropathy | AR |
| MCM4 | Immunodeficiency 54 | AR |
| MCM6 | Lactase persistence/nonpersistence | AD |
| MCOLN1 | Mucolipidosis IV | AR |
| MCPH1 | Microcephaly 1, primary, autosomal recessive | AR |
| MDH2 | Epileptic encephalopathy, early infantile, 51 | AR |
| MECP2 | Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Intellectual developmental disorder | XL |
| MECR | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) | AR |
| MED12 | Ohdo syndrome, Intellectual disability with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome | XL |
| MED13 | Intellectual developmental disorder 61 | AD |
| MED13L | Transposition of the great arteries, dextro-looped 1 | AD |
| MED17 | Microcephaly, postnatal progressive, with seizures and brain atrophy | AR |
| MED23 | Mental retardation, autosomal recessive 18 | AR |
| MED25 | Basel-Vanagait-Smirin-Yosef syndrome, Charcot-Marie-Tooth disease | AR |
| MEF2C | Intellectual developmental disorder | AD |
| MEGF10 | Myopathy, early-onset, areflexia, respiratory distress, and dysphagia | AR |
| MEIS2 | Cleft palate, cardiac defects, and mental retardation | AD |
| METTL23 | Mental retardation, autosomal recessive 44 | AR |
| MFF | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | AR |
| MFN2 | Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease | AD/AR |
| MFRP | Microphthalmia, isolated 5 | AR |
| MFSD2A | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities | AR |
| MFSD8 | Ceroid lipofuscinosis, neuronal | AR |
| MGAT2 | Congenital disorder of glycosylation, type IIa | AR |
| MGME1 | Mitochondrial DNA depletion syndrome 11 | AR |
| MIB1 | Left ventricular noncompaction 7 | AD |
| MICU1 | Myopathy with extrapyramidal signs | AR |
| MID1 | Opitz GBBB syndrome, type I | XLR |
| MIPEP | Combined oxidative phosphorylation deficiency 31 | AR |
| MITF | Melanoma, cutaneous malignant, susceptibility to, 8 | - |
| MKKS | Bardet-Biedl syndrome, McKusick-Kaufman syndrome | AR |
| MKS1 | Bardet-Biedl syndrome, Meckel syndrome | AR |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
| MLPH | Griscelli syndrome, type 3 | AR |
| MLYCD | Malonyl-CoA decarboxylase deficiency | AR |
| MMAA | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | AR |
| MME | Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease, axonal, type 2T | AD/AR |
| MMUT | Methylmalonic aciduria, mut(0) type | AR |
| MOCS1 | Molybdenum cofactor deficiency A | AR |
| MOCS2 | Molybdenum cofactor deficiency | AR |
| MOGS | Congenital disorder of glycosylation, type IIb | AR |
| MORC2 | Charcot-Marie-Tooth disease type, axonal, type 2Z, Neurodevelopmental disorder | AD |
| MPC1 | Mitochondrial pyruvate carrier deficiency | AR |
| MPDU1 | Congenital disorder of glycosylation, type If | AR |
| MPDZ | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | AR |
| MPI | Congenital disorder of glycosylation, type Ib | AR |
| MPV17 | Mitochondrial DNA depletion syndrome | AR |
| MPZ | Neuropathy, Roussy-Levy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease | AD |
| MRE11 | Ataxia-telangiectasia-like disorder 1 | AR |
| MRE11A | Ataxia-telangiectasia-like disorder-1 | AR |
| MRPL3 | Combined oxidative phosphorylation deficiency 9 | AR |
| MRPL44 | Combined oxidative phosphorylation deficiency 16 | AR |
| MRPS16 | Combined oxidative phosphorylation deficiency 2 | AR |
| MRPS2 | Combined oxidative phosphorylation deficiency 36 | AR |
| MRPS22 | Ovarian dysgenesis 7 | AR |
| MRPS34 | Combined oxidative phosphorylation deficiency 32 | AR |
| MSL3 | Mental retardation, X-linked | XL |
| MSMO1 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
| MSR1 | Barrett esophagus/esophageal adenocarcinoma | - |
| MSRB3 | Deafness, autosomal recessive 74 | AR |
| MSTO1 | Myopathy, mitochondrial, and ataxia | AD, AR |
| MSX1 | Orofacial cleft 5 | AD |
| MSX2 | Parietal foramina with cleidocranial dysplasia | AD |
| MT-ATP6 | Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrial | Mitochondrial |
| MT-ATP8 | Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic | Mitochondrial |
| MT-CO1 | Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrial | Mitochondrial |
| MT-CO2 | Cytochrome c oxidase deficiency | Mitochondrial |
| MT-CO3 | Cytochrome c oxidase deficiency, Leber hereditary optic neuropathy | Mitochondrial |
| MT-CYB | | Mitochondrial |
| MTFMT | Combined oxidative phosphorylation deficiency 15 | AR |
| MTHFD1 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | AR |
| MTHFR | Homocystinuria due to MTHFR deficiency | AR |
| MTHFS | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | AR |
| MTM1 | Myopathy, centronuclear | XL |
| MTMR14 | Centronuclear myopathy, autosomal, modifier of | AD |
| MTMR2 | Charcot-Marie-Tooth disease | AR |
| MT-ND1 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia | Mitochondrial |
| MT-ND2 | Leber hereditary optic neuropathy, Mitochondrial complex I deficiency | Mitochondrial |
| MT-ND3 | Leber optic atrophy and dystonia, Mitochondrial complex I deficiency | Mitochondrial |
| MT-ND4 | Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency | Mitochondrial |
| MT-ND4L | Leber hereditary optic neuropathy | Mitochondrial |
| MT-ND5 | Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency | Mitochondrial |
| MT-ND6 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency | Mitochondrial |
| MTO1 | Combined oxidative phosphorylation deficiency 10 | AR |
| MTOR | Smith-Kingsmore syndrome | AD |
| MTOR | Focal cortical dysplasia, type II, somatic | - |
| MTPAP | Spastic ataxia | AR |
| MTPAP | ?Spastic ataxia 4, autosomal recessive | AR |
| MTR | Neural tube defects, folate-sensitive, susceptibility to | AR |
| MTRFR | Spastic paraplegia 55, autosomal recessive | AR |
| MT-RNR1 | Deafness, mitochondrial | Mitochondrial |
| MT-RNR2 | Chloramphenicol toxicity/resistance | Mitochondrial |
| MTRR | Homocystinuria-megaloblastic anemia, cbl E type | AR |
| MT-TA | | Mitochondrial |
| MT-TC | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Mitochondrial |
| MT-TD | | Mitochondrial |
| MT-TE | Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes | Mitochondrial |
| MT-TF | Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes | Mitochondrial |
| MT-TG | | Mitochondrial |
| MT-TH | | Mitochondrial |
| MT-TI | | Mitochondrial |
| MT-TK | Myoclonic epilepsy with ragged red fibers, Leigh syndrome | Mitochondrial |
| MT-TL1 | Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to | Mitochondrial |
| MT-TL2 | Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes | Mitochondrial |
| MT-TM | Leigh syndrome, Mitochondrial multisystemic disorder | Mitochondrial |
| MT-TN | Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder | Mitochondrial |
| MTTP | Abetalipoproteinemia | AR |
| MT-TP | | Mitochondrial |
| MT-TQ | Mitochondrial multisystemic disorder | Mitochondrial |
| MT-TR | Encephalopathy, mitochondrial | Mitochondrial |
| MT-TS1 | Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Mitochondrial |
| MT-TS2 | Mitochondrial multisystemic disorder | Mitochondrial |
| MT-TT | | Mitochondrial |
| MT-TV | Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes | Mitochondrial |
| MT-TW | Leigh syndrome, Myopathy, mitochondrial | Mitochondrial |
| MT-TY | Mitochondrial multisystemic disorder | Mitochondrial |
| MUSK | Myasthenic syndrome, congenital, Fetal akinesia deformation sequence | AR |
| MYBPC1 | Arthrogryposis, distal, type 1B | AD |
| MYBPC3 | Cardiomyopathy, hypertrophic, 4 | AD, AR |
| MYCN | Feingold syndrome | AD |
| MYH2 | Proximal myopathy and ophthalmoplegia | AD, AR |
| MYH3 | Arthrogryposis, distal, type 2B3 (Sheldon-Hall) | AD |
| MYH7 | Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM) | AD |
| MYH8 | Trismus-pseudocamptodactyly syndrome | AD |
| MYL1 | Myopathy, congenital, with fast-twitch (type II) fiber atrophy | AR |
| MYL2 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | AR |
| MYMK | Carey-Fineman-Ziter syndrome | AR |
| MYO18B | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | AR |
| MYO1E | Glomerulosclerosis, focal segmental, 6 | AR |
| MYO5A | Griscelli syndrome, type 1 | AR |
| MYO9A | Congenital myasthenic syndrome | AR |
| MYO9B | Celiac disease, susceptibility to, 4 | - |
| MYORG | Basal ganglia calcification, idiopathic, 7, autosomal recessive | AR |
| MYOT | Myopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid body | AD |
| MYPN | Cardiomyopathy, hypertrophic, 22 | AD |
| MYT1L | Mental retardation, autosomal dominant 39 | AD |
| NAA10 | Ogden syndrome | XLD, XLR |
| NAA15 | Mental retardation, autosomal dominant 50 | AD |
| NACC1 | Neurodevelopmental disorder | AD |
| NADK2 | 2, 4-dienoyl-CoA reductase deficiency | AR |
| NAGA | Schindler disease, type III | AR |
| NAGLU | ?Charcot-Marie-Tooth disease, axonal, type 2V | AD |
| NAGS | N-acetylglutamate synthase deficiency | AR |
| NALCN | Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD |
| NARS2 | ?Deafness, autosomal recessive 94 | AR |
| NAXD | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | AR |
| NAXE | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | AR |
| NBAS | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| NBEA | Neurodevelopmental disorder with or without early-onset generalized epilepsy | AD |
| NCAPD3 | Microcephaly 22, primary, autosomal recessive | AR |
| NDE1 | Lissencephaly 4 (with microcephaly) | AR |
| NDP | Norrie disease | XLR |
| NDRG1 | Charcot-Marie-Tooth disease | AR |
| NDST1 | Mental retardation, autosomal recessive 46 | AR |
| NDUFA1 | Mitochondrial complex I deficiency, nuclear type 12 | XLR |
| NDUFA10 | Mitochondrial complex I deficiency, nuclear type 22 | AR |
| NDUFA11 | Mitochondrial complex I deficiency, nuclear type 14 | AR |
| NDUFA12 | ?Mitochondrial complex I deficiency, nuclear type 23 | AR |
| NDUFA2 | Mitochondrial complex I deficiency, nuclear type 13 | AR |
| NDUFA6 | Mitochondrial complex I deficiency, nuclear type 33 | AR |
| NDUFAF1 | Mitochondrial complex I deficiency, nuclear type 11 | AR |
| NDUFAF2 | Mitochondrial complex I deficiency, nuclear type 10 | AR |
| NDUFAF3 | Mitochondrial complex I deficiency | AR |
| NDUFAF4 | Mitochondrial complex I deficiency, nuclear type 15 | AR |
| NDUFAF5 | Mitochondrial complex I deficiency | AR |
| NDUFAF6 | Mitochondrial complex I deficiency, Leigh syndrome | AR |
| NDUFB11 | Linear skin defects with multiple congenital anomalies 3 | XLD |
| NDUFB3 | Mitochondrial complex I deficiency, nuclear type 25 | AR |
| NDUFB8 | Mitochondrial complex I deficiency, nuclear type 32 | AR |
| NDUFB9 | ?Mitochondrial complex I deficiency, nuclear type 24 | AR |
| NDUFS1 | Mitochondrial complex I deficiency, nuclear type 5 | AR |
| NDUFS2 | Mitochondrial complex I deficiency | AR |
| NDUFS3 | Mitochondrial complex I deficiency, nuclear type 8 | AR |
| NDUFS4 | Mitochondrial complex I deficiency, Leigh syndrome | AR |
| NDUFS6 | Mitochondrial complex I deficiency | AR |
| NDUFS7 | Mitochondrial complex I deficiency, Leigh syndrome | AR |
| NDUFS8 | Mitochondrial complex I deficiency, Leigh syndrome | AR |
| NDUFV1 | Mitochondrial complex I deficiency | AR |
| NDUFV2 | Mitochondrial complex I deficiency, nuclear type 7 | AR |
| NEB | Nemaline myopathy 2, autosomal recessive | AR |
| NECAP1 | Developmental and epileptic encephalopathy 21 | AR |
| NECTIN1 | Orofacial cleft 7 | AR |
| NEDD4L | Periventricular nodular heterotopia 7 | AD |
| NEFH | Charcot-Marie-Tooth disease, axonal, type 2CC | AD |
| NEFL | Charcot-Marie-Tooth disease | AD |
| NEK1 | Short-rib thoracic dysplasia 6 with or without polydactyly | AR, DR |
| NEK10 | Ciliary dyskinesia, primary, 44 | AR |
| NEU1 | Sialidosis | AR |
| NEUROD2 | Epileptic encephalopathy | AD |
| NEXMIF | Mental retardation, X-linked 98 | XLD |
| NF1 | Watson syndrome | AD |
| NFE2L2 | Immunodeficiency, developmental delay, and hypohomocysteinemia | AD |
| NFIA | Brain malformations with or without urinary tract defects | AD |
| NFIB | Macrocephaly | AD |
| NFIX | Marshall-Smith syndrome | AD |
| NFU1 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
| NGF | Neuropathy, hereditary sensory and autonomic | AR |
| NGLY1 | Congenital disorder of deglycosylation | AR |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | - |
| NHLRC1 | Epilepsy, progressive myoclonic | AR |
| NHS | Nance-Horan syndrome | XLD |
| NIPA1 | Spastic paraplegia 6, autosomal dominant | AD |
| NIPBL | Cornelia de Lange syndrome 1 | AD |
| NKX2-1 | Thyroid cancer, nonmedullary, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chorea, hereditary benign | AD |
| NKX6-2 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | AR |
| NLGN3 | Autism, Asperger syndrome | XL |
| NLGN4X | Autism, Asperger syndrome, Intellectual developmental disorder | XL |
| NLGN4X | Asperger syndrome susceptibility, X-linked 2 | XL |
| NLRP12 | Familial cold autoinflammatory syndrome 2 | AD |
| NLRP3 | CINCA syndrome | AD |
| NNT | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | AR |
| NODAL | Heterotaxy, visceral | AD |
| NOL3 | Myoclonus, familial cortical | AD |
| NONO | Mental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC) | XL |
| NOTCH1 | Adams-Oliver syndrome 5 | AD |
| NOTCH2 | Alagille syndrome 2 | AD |
| NOTCH3 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Lateral meningocele syndrome | AD |
| NPC1 | Niemann-Pick disease | AR |
| NPC2 | Niemann-pick disease | AR |
| NPHP1 | Nephronophthisis, Joubert syndrome, Senior-Loken syndrome | AR |
| NPHP3 | Nephronophthisis 3 | AR |
| NPR2 | Acromesomelic dysplasia, Maroteaux type | AR |
| NPRL3 | Epilepsy, familial focal, with variable foci 3 | AD |
| NR2F1 | Bosch-Boonstra optic atrophy syndrome | AD |
| NR3C2 | Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | - |
| NRXN1 | Pitt-Hopkins like syndrome, Developmental delay with or without dysmorphic facies and autism | AD/AR |
| NSD1 | Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome | AD |
| NSD2 | Rauch-Steindl syndrome | AD |
| NSDHL | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndrome | XL |
| NSMCE3 | Lung disease, immunodeficiency, and chromosome breakage syndrome | AR |
| NSUN2 | Mental retardation, autosomal recessive 5 | AR |
| NT5C2 | Spastic paraplegia 45 | AR |
| NTHL1 | Familial adenomatous polyposis 3 | AR |
| NTRK1 | Insensitivity to pain, congenital, with anhidrosis, Medullary thyroid carcinoma, familial | AR |
| NTRK2 | Obesity, hyperphagia, and developmental delay | AD |
| NUBPL | Mitochondrial complex I deficiency | AR |
| NUBPL | Mitochondrial complex I deficiency, nuclear type 21 | AR |
| NUP133 | Nephrotic syndrome, type 18 | AR |
| NUP62 | Striatonigral degeneration, infantile | AR |
| NUS1 | ?Congenital disorder of glycosylation, type 1aa | AR |
| NXF5 | Familial heart block and focal segmental glomerulosclerosis, Mental retardation, syndromic, X-linked | XL |
| OAT | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
| OCLN | Pseudo-TORCH syndrome 1 | AR |
| OCRL | Lowe syndrome | XLR |
| ODAD4 | Ciliary dyskinesia, primary, 35 | AR |
| OFD1 | Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndrome | XL |
| OGDH | Alpha-ketoglutarate dehydrogenase deficiency | AR |
| OPA1 | Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14 | AD/AR |
| OPA3 | 3-methylglutaconic aciduria, type III | AR |
| OPHN1 | Mental retardation, with cerebellar hypoplasia and distinctive facial appearance | XL |
| OPTN | Glaucoma, open angle, Glaucoma, normal tension, Amyotrophic lateral sclerosis 12 | AD |
| ORC1 | Meier-Gorlin syndrome 1 | AR |
| OSGEP | Galloway-Mowat syndrome 3 | AR |
| OTC | Ornithine transcarbamylase deficiency | XL |
| OTUD6B | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | AR |
| OTX2 | Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunction | AD |
| OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
| P4HA2 | Myopia 25, autosomal dominant | AD |
| P4HB | Cole-Carpenter syndrome 1 | AD |
| P4HTM | Intellectual disability and seizures | AR |
| PABPN1 | Oculopharyngeal muscular dystrophy | AD/AR |
| PACS1 | Mental retardation, autosomal dominant 17 (Schuss-Hoeijmakers syndrome) | AD |
| PACS2 | Early infantile epileptic encephalopathy | AD |
| PAFAH1B1 | Lissencephaly, Subcortical laminar heterotopia | AD |
| PAH | Phenylketonuria | AR |
| PAK1 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | AD |
| PAK3 | Mental retardation, X-linked 30/47 | XLR |
| PAM16 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | AR |
| PANK2 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Neurodegeneration with brain iron accumulation | AR |
| PARK2 | Parkinson disease, juvenile | AR |
| PARK7 | Parkinson disease 7, autosomal recessive early-onset | AR |
| PARS2 | Alpers syndrome | AR |
| PAX3 | Waardenburg syndrome, type 3 | AD, AR |
| PAX6 | Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomaly | AD |
| PAX7 | Myopathy, congenital, progressive, with scoliosis | AR |
| PBX1 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | AD |
| PC | Pyruvate carboxylase deficiency | AR |
| PCBD1 | Hyperphenylalaninemia, BH4-deficient, D | AR |
| PCCA | Propionicacidemia | AR |
| PCCB | Propionicacidemia | AR |
| PCDH12 | Diencephalic-mesencephalic junction dysplasia syndrome 1 | AR |
| PCDH15 | Usher syndrome, type 1D/F digenic | AR, DR |
| PCDH19 | Epileptic encephalopathy, early infantile | XL |
| PCK2 | PEPCK deficiency, mitochondrial | AR |
| PCLO | Pontocerebellar hypoplasia | AR |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
| PCYT2 | Spastic paraplegia 82, autosomal recessive | AR |
| PDCD1 | Systemic lupus erythematosus, susceptibility to, 2 | - |
| PDCD10 | Cerebral cavernous malformations | AD |
| PDE10A | Striatal degeneration, autosomal dominant 2, Infantile-onset dyskinesia | AD/AR |
| PDE6D | Joubert syndrome 22 | AR |
| PDE8B | Striatal degeneration, autosomal dominant | AD |
| PDGFB | Basal ganglia calcification, idiopathic, 5 | AD |
| PDGFRB | Basal ganglia calcification, idiopathic, 4, Kosaki overgrowth syndrome, Premature aging syndrome, Penttinen type | AD |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHB | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PDHX | Lacticacidemia due to PDX1 deficiency | AR |
| PDK3 | Charcot-Marie-Tooth disease | XL |
| PDP1 | Pyruvate dehydrogenase phosphatase deficiency | AR |
| PDSS1 | Coenzyme Q10 deficiency, primary, 2 | AR |
| PDSS2 | Coenzyme Q10 deficiency | AR |
| PDX1 | Pancreatic agenesis 1 | AR |
| PDYN | Spinocerebellar ataxia | AD |
| PER2 | ?Advanced sleep phase syndrome, familial, 1 | AD |
| PET100 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
| PEX1 | Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1B | AR |
| PEX10 | Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, Ataxia | AR |
| PEX11B | Peroxisome biogenesis disorder 14B | AR |
| PEX12 | Zellweger syndrome, Peroxisome biogenesis disorder | AR |
| PEX13 | Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder | AR |
| PEX14 | Peroxisome biogenesis factor disorder 14, Zellweger syndrome | AR |
| PEX16 | Zellweger syndrome, Peroxisome biogenesis disorder | AR |
| PEX19 | Peroxisome biogenesis disorder, 19, Zellweger syndrome | AR |
| PEX2 | Zellweger syndrome, Peroxisome biogenesis disorder | AR |
| PEX26 | Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder | AR |
| PEX3 | Zellweger syndrome, Peroxisome biogenesis disorder | AR |
| PEX5 | Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorder | AR |
| PEX6 | Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4B | AR |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 | AR |
| PFKM | Glycogen storage disease VII | AR |
| PFN1 | Amyotrophic lateral sclerosis 18 | AD |
| PGAM2 | Glycogen storage disease X | AR |
| PGAP1 | Mental retardation, autosomal recessive 42 | AR |
| PGAP2 | Hyperphosphatasia with mental retardation syndrome 3 | AR |
| PGK1 | Phosphoglycerate kinase 1 deficiency | XL |
| PGM1 | Congenital disorder of glycosylation, type It | AR |
| PHACTR1 | Epileptic encephalopathy | AD |
| PHF6 | Borjeson-Forssman-Lehmann syndrome | XL |
| PHF8 | Mental retardation syndrome, X-linked, Siderius type | XLR |
| PHGDH | Phosphoglycerate dehydrogenase deficiency | AR |
| PHIP | Chung-Jansen syndrome | AD |
| PHKA1 | Muscle glycogenosis | XLR |
| PHKB | Glycogen storage disease | AR |
| PHOX2A | Fibrosis of extraocular muscles, congenital, 2 | AR |
| PHOX2B | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease | AD |
| PHYH | Refsum disease | AR |
| PIEZO2 | Arthrogryposis, distal, type 3 | AD |
| PIGA | Paroxysmal nocturnal hemoglobinuria, somatic | - |
| PIGB | Epileptic encephalopathy | AR |
| PIGC | Glycosylphosphatidylinositol biosynthesis defect 16 | AR |
| PIGG | Mental retardation, autosomal recessive 53 | AR |
| PIGH | Glycosylphosphatidylinositol biosynthesis defect 17 | AR |
| PIGL | CHIME syndrome | AR |
| PIGN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | AR |
| PIGO | Hyperphosphatasia with mental retardation syndrome 2 | AR |
| PIGP | Epileptic encephalopathy, early infantile, 55 | AR |
| PIGQ | Epileptic encephalopathy | AR |
| PIGS | Epileptic encephalopathy | AR |
| PIGT | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | AR |
| PIGU | Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis | AR |
| PIGV | Hyperphosphatasia with mental retardation syndrome 1 | AR |
| PIGW | Hyperphosphatasia with mental retardation syndrome 5 | AR |
| PIK3CA | Keratosis, seborrheic, somatic | - |
| PIK3R2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | AD |
| PIK3R5 | Ataxia-oculomotor apraxia 3 | AR |
| PINK1 | Parkinson disease 6, early onset | AR |
| PIP5K1C | Lethal congenital contractural syndrome 3 | AR |
| PITRM1 | | AR |
| PITX1 | Liebenberg syndrome | AD |
| PITX2 | Anterior segment dysgenesis 4 | AD |
| PKLR | Adenosine triphosphate, elevated, of erythrocytes | AD |
| PLA2G6 | Neurodegeneration with brain iron accumulation 2B | AR |
| PLAA | Neurodevelopmental disorder | |
| PLCB1 | Epileptic encephalopathy, early infantile | AR |
| PLCG2 | Familial cold autoinflammatory syndrome 3 | AD |
| PLEC | Muscular dystrophy, limb-girdle, Epidermolysis bullosa | AD/AR |
| PLEKHG2 | Leukodystrophy and acquired microcephaly with or without dystonia | AR |
| PLEKHG5 | Spinal muscular atrophy, Charcot-Marie-Tooth disease | AR |
| PLK4 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | AR |
| PLN | Cardiomyopathy, dilated, 1P | - |
| PLOD2 | Bruck syndrome 2 | AR |
| PLP1 | Spastic paraplegia, Pelizaeus-Merzbacher disease | XL |
| PLPBP | Epilepsy, early-onset, vitamin B6-dependent | AR |
| PMM2 | Congenital disorder of glycosylation | AR |
| PMP2 | | |
| PMP22 | Neuropathy, inflammatory demyelinating, Roussy-Levy syndrome, Dejerine-Sottas disease, Neuropathy, hereditary, with liability to pressurve palsies, Charcot-Marie-Tooth disease | AD/AR |
| PMPCA | Spinocerebellar ataxia, autosomal recessive 2 | AR |
| PMPCB | Multiple mitochondrial dysfunctions syndrome 6 | AR |
| PNKD | Paroxysmal non-kinesigenic dyskinesia | AD |
| PNKP | Epileptic encephalopathy, early infantile, Ataxia-oculomotor | AR |
| PNPLA2 | Neutral lipid storage disease with myopathy | AR |
| PNPLA6 | Laurence-Moon syndrome, Boucher-Neuhauser syndrome, Spastic paraplegia 39 | AR |
| PNPLA8 | ?Mitochondrial myopathy with lactic acidosis | AR |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
| PNPT1 | Deafness, autosomal recessive 70 | AR |
| POGLUT1 | Dowling-Degos disease 4, Muscular dystrophy, limb-girdle, type 2Z | AD/AR |
| POGZ | Mental retardation, autosomal dominant 37 (White-Sutton syndrome) | AD |
| POLA1 | Van Esch-O'Driscoll syndrome | XLR |
| POLG | POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome | AD/AR |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions | AD |
| POLR1C | Leukodystrophy, hypomyelinating, 11 | AR |
| POLR1D | Treacher Collins syndrome 2 | AD, AR |
| POLR3A | Leukodystrophy, hypomyelinating | AR |
| POLR3B | Leukodystrophy, hypomyelinating | AD/AR |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy | AR |
| POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 | AR |
| POMK | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A, 12, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type C, 12, Muscle-eye brain disease, Walker-Warburg syndrome | AR |
| POMT1 | Muscular dystrophy-dystroglycanopathy | AR |
| POMT2 | Muscular dystrophy-dystroglycanopathy | AR |
| PON1 | Microvascular complications of diabetes 5 | - |
| POP1 | Anauxetic dysplasia 2 | AR |
| PORCN | Focal dermal hypoplasia | XLD |
| POT1 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
| POU1F1 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPM1D | Jansen de Vries syndrome | AD |
| PPOX | Porphyria variegata | AD |
| PPP2CA | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD |
| PPP2R1A | Mental retardation, autosomal dominant 36 | AD |
| PPP2R5D | Mental retardation, autosomal dominant 35 | AD |
| PPP3CA | Epilepitic encephalopathy | AD |
| PPT1 | Ceroid lipofuscinosis, neuronal | AR |
| PQBP1 | Renpenning syndrome | XLR |
| PRDM12 | Neuropathy, hereditary sensory and autonomic, type VIII | AR |
| PREPL | Myasthenic syndrome, congenital 22 | |
| PRF1 | Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis | AR |
| PRF1 | Hemophagocytic lymphohistiocytosis, familial, 2 | AR |
| PRICKLE1 | Epilepsy, progressive myoclonic | AD/AR |
| PRICKLE1 | Epilepsy, progressive myoclonic 1B | AR |
| PRICKLE2 | | AD/AR |
| PRIMA1 | Epilepsy, nocturnal frontal lobe | AR |
| PRKAG2 | Glycogen storage disease of heart, lethal congenital | AD |
| PRKCG | Spinocerebellar ataxia | AD/AR |
| PRKCG | Spinocerebellar ataxia 14 | AD |
| PRKN | Parkinson disease, juvenile, type 2 | AR |
| PRKRA | Dystonia 16 | AR |
| PRMT7 | Short stature, brachydactyly, intellectual developmental disability, and seizures | AR |
| PRNP | Dementia, Lewy body, Creutzfeldt-Jakob disease, Huntington disease-like, Gerstmann-Straussler disease, Spongiform encephalopathy with neuropsychiatric features, Insomnia, fatal familial | AD/AR |
| PRODH | Schizophrenia, susceptibility to, 4 | AD |
| PROP1 | Pituitary hormone deficiency, combined, 2 | AR |
| PROSC | Epilepsy | AR |
| PRPH | Amyotrophic lateral sclerosis, susceptibility to | AD, AR |
| PRPS1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | XLR |
| PRRT2 | Episodic kinesigenic dyskinesia, Seizures, benign familial infantile, 2, Convulsions, familial infantile, with paroxysmal choreoathetosis | AD |
| PRRX1 | Agnathia-otocephaly complex | AD, AR |
| PRSS12 | Mental retardation, autosomal recessive 1 | AR |
| PRUNE | | |
| PRX | Dejerine-Sottas disease, Charcot-Marie-Tooth disease | AR |
| PSAP | Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency, Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency | AD/AR |
| PSAT1 | Neu-Laxova syndrome 2 | AR |
| PSEN1 | Dilated cardiomyopathy (DCM), Acne inversa, familial, 3, Dementia, frontotemporal, Pick disease, Alzheimer disease | AD |
| PSEN2 | Peripartum/pregnancy-associated cardiomyopathy, Dilated cardiomyopathy (DCM), Alzheimer disease, 4 | AD |
| PSMD12 | Stankiewicz-Isidor syndrome | AD |
| PSPH | Phosphoserine phosphatase deficiency | AR |
| PTCH1 | Basal cell carcinoma, somatic | - |
| PTCHD1 | Autism, susceptibility to, X-linked 4 | XLR |
| PTEN | Cowden syndrome 1 | AD |
| PTF1A | Pancreatic and cerebellar agenesis | AR |
| PTPN11 | Leukemia, juvenile myelomonocytic, somatic | - |
| PTPN23 | Epileptic encephalopathy | AR |
| PTPRC | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive | AR |
| PTRH2 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
| PTS | Hyperphenylalaninemia, BH4-deficient | AR |
| PUM1 | Ataxia, Neurodevelopmental disorder | AD |
| PURA | Intellectual developmental disorder | AD |
| PUS1 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| PUS3 | Neurodevelopmental disorder with microcephaly and gray sclerae | AR |
| PXDN | Anterior segment dysgenesis 7, with sclerocornea | AR |
| PYCR1 | Cutis laxa, autosomal recessive, type IIB | AR |
| PYCR2 | Leukodystrophy, hypomyelinating 10 | AR |
| PYGM | Glycogen storage disease | AR |
| PYROXD1 | Myopathy, myofibrillar, 8 | AR |
| QARS | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
| QARS1 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
| QDPR | Hyperphenylalaninemia, BH4-deficient | AR |
| QRICH1 | Ververi-Brady syndrome | AD |
| RAB11A | | |
| RAB11B | | |
| RAB18 | Warburg micro syndrome 3 | AR |
| RAB27A | Griscelli syndrome, type 2 | AR |
| RAB39B | Waisman parkinsonism-mental retardation syndrome, Intellectual developmental disorder | XL |
| RAB3GAP1 | Martsolf syndrome 2 | AR |
| RAB3GAP2 | Warburg micro syndrome 2 | AR |
| RAB7A | Charcot-Marie-Tooth disease | AD |
| RAB7A | Charcot-Marie-Tooth disease, type 2B | AD |
| RAC1 | Mental retardation, autosomal dominant 48 | AD |
| RAD21 | Cornelia de Lange syndrome 4 | AD |
| RAD50 | Nijmegen breakage syndrome-like disorder | AR |
| RAF1 | Noonan syndrome 5 | AD |
| RAI1 | Smith-Magenis syndrome | AD, IC |
| RALA | Hiatt-Neu-Cooper neurodevelopmental syndrome | AD |
| RALGAPA1 | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | AR |
| RAPSN | Myasthenic syndrome, congenital | AR |
| RARS | Leukodystrophy, hypomyelinating 9 | AR |
| RARS1 | Leukodystrophy, hypomyelinating, 9 | AR |
| RARS2 | Pontocerebellar hypoplasia, type 6 | AR |
| RASA1 | Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomalies | AD |
| RBBP8 | Seckel syndrome 2 | AR |
| RBCK1 | Polyglucosan body myopathy | AR |
| RBM10 | TARP syndrome | XLR |
| RBM8A | Thrombocytopenia-absent radius syndrome | AR |
| RDH11 | ?Retinal dystrophy, juvenile cataracts, and short stature syndrome | AR |
| REEP1 | Spastic paraplegia, Distal hereditary motor neuronopathy | AD |
| REEP2 | ?Spastic paraplegia 72, autosomal recessive | AD, AR |
| RELN | Lissencephaly, Epilepsy, familial temporal lobe | AD/AR |
| RERE | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | AD |
| REST | Wilms tumor 6, susceptibility to | AD |
| RET | Hirschsprung disease, susceptibility to, 1 | AD |
| RETREG1 | Neuropathy, hereditary sensory and autonomic, type IIB | AR |
| RFT1 | Congenital disorder of glycosylation, type In | AR |
| RHOBTB2 | Early infantile epileptic encephalopathy | AD |
| RIMS1 | Cone-rod dystrophy 7 | AD |
| RIN2 | Macrocephaly, alopecia, cutis laxa, and scoliosis | AR |
| RLIM | Mental retardation, X-linked 61 | XL |
| RMND1 | Combined oxidative phosphorylation deficiency 11 | AR |
| RNASEH1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | AR |
| RNASEH2A | Aicardi-Goutières syndrome | AR |
| RNASEH2B | Aicardi-Goutières syndrome | AR |
| RNASEH2C | Aicardi-Goutières syndrome | AR |
| RNASEH2C | Aicardi-Goutieres syndrome 3 | AR |
| RNASET2 | Leukoencephalopathy, cystic, without megalencephaly | AR |
| RNF113A | Trichothiodystrophy 5, nonphotosensitive | XL |
| RNF13 | Developmental and epileptic encephalopathy 73 | AD |
| RNF135 | Macrocephaly, macrosomia, facial dysmorphism syndrome | AD |
| RNF168 | RIDDLE syndrome | AR |
| RNF170 | Ataxia, sensory, 1, autosomal dominant | AD |
| RNF216 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
| ROBO2 | Vesicoureteral reflux 2 | AD |
| ROBO3 | Gaze palsy, horizontal, with progressive scoliosis | AR |
| ROGDI | Kohlschutter-Tonz syndrome | AR |
| ROR2 | Brachydactyly, type B1 | AD |
| RORA | | AD |
| RORB | Epilepsy | AD |
| RPGRIP1L | Joubert syndrome 7 | AR |
| RPIA | Ribose 5-phosphate isomerase deficiency | AR |
| RPL10 | Autism | XL |
| RPL10 | Autism, susceptibility to, X-linked 5 | - |
| RPL35A | Diamond-Blackfan anemia 5 | AD |
| RPS14 | Macrocytic anemia, refractory, due to 5q deletion, somatic | - |
| RPS6KA3 | Coffin-Lowry syndrome | XLD |
| RRM2B | Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome | AD/AR |
| RTN2 | Spastic paraplegia 12, autosomal dominant | AD |
| RTN4IP1 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures | AR |
| RTTN | Microcephaly, short stature, and polymicrogyria with seizures | AR |
| RUBCN | Spinocerebellar ataxia | AR |
| RUSC2 | Mental retardation, autosomal recessive 61 | AR |
| RXYLT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | AR |
| RYR1 | Central core disease, Malignant hyperthermia, Minicore myopathy with external ophthalmoplegia, Centronuclear myopathy, Minicore myopathy, Multicore myopathy | AD/AR |
| SACS | Spastic ataxia, Charlevoix-Saguenay | AR |
| SACS | Spastic ataxia, Charlevoix-Saguenay type | AR |
| SALL1 | Townes-Brocks branchiootorenal-like syndrome | AD |
| SALL4 | Acro-renal-ocular syndrome, Duane-radial ray/Okihiro syndrome | AD |
| SAMD9L | Ataxia-pancytopenia syndrome | AD |
| SAMD9L | Ataxia-pancytopenia syndrome | AD |
| SAMHD1 | Aicardi-Goutières syndrome, Chilblain lupus 2 | AD/AR |
| SARS2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
| SASH1 | Dyschromatosis universalis hereditaria 1 | AD |
| SASS6 | ?Microcephaly 14, primary, autosomal recessive | AR |
| SATB2 | Glass syndrome | AD |
| SBDS | Aplastic anemia, susceptibility to | - |
| SBF1 | Charcot-Marie-Tooth disease | AR |
| SBF2 | Charcot-Marie-Tooth disease | AR |
| SC5D | Lathosterolosis | AR |
| SCARB2 | Epilepsy, progressive myoclonic | AR |
| SCN10A | Episodic pain syndrome, familial, 2 | AD |
| SCN11A | Episodic pain syndrome, familial, 3, Neuropathy, hereditary sensory and autonomic, type VII | AD |
| SCN1A | Migraine, familial hemiplegic, Epileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Early infantile epileptic encephalopathy 6, Generalized epilepsy with febrile seizures plus, type 2 , Febrile seizures, familial 3A | AD |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus, Epilepsy, generalized, with febrile seizures plus, type 1, Epileptic encephalopathy, early infantile, 52 | AD |
| SCN2A | Epileptic encephalopathy, early infantile, Seizures, benign familial infantile | AD |
| SCN3A | Epilepsy, Epileptic encephalopathy | AD |
| SCN4A | Hyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysis | AD/AR |
| SCN8A | Cognitive impairment, Epileptic encephalopathy, early infantile | AD |
| SCN9A | Paroxysmal extreme pain disorder, Small fiber neuropathy, Erythermalgia, primary, Generalized epilepsy with febrile seizures plus, type 7, Insensitivity to pain, congenital, autosomal recessive | AD/AR |
| SCO1 | Mitochondrial complex IV deficiency | AR |
| SCO2 | Myopia 6 | AD |
| SCYL1 | Spinocerebellar ataxia, autosomal recessive 21 | AR |
| SDCCAG8 | Bardet-Biedl syndrome 16 | AR |
| SDHA | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| SDHAF1 | Mitochondrial complex II deficiency | AR |
| SDHAF2 | Paragangliomas 2 | AD |
| SDHB | Pheochromocytoma | AD |
| SDHD | Mitochondrial complex II deficiency | AR |
| SEC23B | Dyserythropoietic anemia, congenital, type II | AR |
| SECISBP2 | Thyroid hormone metabolism, abnormal | AR |
| SELENOI | Spastic paraplegia 81, autosomal recessive | AR |
| SELENON | Muscular dystrophy, rigid spine, 1 | AR |
| SEMA6B | Epilepsy, progressive myoclonic, 11 | AD |
| SEPSECS | Pontocerebellar hypoplasia type 2D | AR |
| SEPT9 | Amyotrophy, hereditary neuralgic | AD |
| SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
| SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
| SET | Mental retardation, autosomal dominant 58 | AD |
| SETBP1 | Mental retardation, autosomal dominant 29, Schinzel-Giedion midface retraction syndrome | AD |
| SETD1A | Neurodevelopmental disorder with speech impairment and dysmorphic facies | AD |
| SETD1B | Intellectual disability and seizures | AD |
| SETD2 | Luscan-Lumish syndrome | AD |
| SETD5 | Mental retardation, autosomal dominant 23 | AD |
| SETX | Ataxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxia | AD/AR |
| SF3B1 | Myelodysplastic syndrome, somatic | - |
| SFXN4 | Combined oxidative phosphorylation deficiency 18 | AR |
| SGCA | Muscular dystrophy, limb-girdle | AR |
| SGCB | Muscular dystrophy, limb-girdle | AR |
| SGCD | Muscular dystrophy, limb-girdle, Dilated cardiomyopathy (DCM) | AR |
| SGCE | Dystonia-11, myoclonic | AD |
| SGCG | Muscular dystrophy, limb-girdle | AR |
| SGSH | Mucopolysaccharidosis (Sanfilippo syndrome) | AR |
| SH3TC2 | Mononeuropathy of the median nerve, Charcot-Marie-Tooth disease | AR |
| SHANK2 | Autism susceptibility 17 | - |
| SHANK3 | Phelan-McDermid syndrome, Schizophrenia 15 | AD |
| SHH | Schizencephaly | - |
| SHOC2 | Noonan syndrome-like with loose anagen hair 1 | AD |
| SHROOM4 | Stocco dos Santos X-linked mental retardation syndrome | XL |
| SIGMAR1 | Amyotrophic lateral sclerosis, Spinal muscular atrophy, distal, Frontotemporal lobar degeneration-motor neuron disease | AR |
| SIK1 | Epileptic encephalopathy, early infantile | AD |
| SIL1 | Marinesco-Sjogren syndrome | AR |
| SIN3A | Witteveen-Kolk syndrome | AD |
| SIX3 | Holoprosencephaly 2 | AD |
| SKI | Shprintzen-Goldberg syndrome | AD |
| SLC12A3 | Gitelman syndrome | AR |
| SLC12A5 | Epileptic encephalopathy, early infantile | AD/AR |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) | AD/AR |
| SLC13A3 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | AR |
| SLC13A5 | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta | AR |
| SLC16A1 | Hyperinsulinemic hypoglycemia, familial, 7 | AD |
| SLC16A2 | Allan-Herndon-Dudley syndrome | XL |
| SLC17A5 | Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorder | AR |
| SLC18A3 | Myasthenic syndrome, congenital, 21, presynaptic | AR |
| SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC19A3 | Thiamine metabolism dysfunction syndrome | AR |
| SLC1A1 | ?Schizophrenia susceptibility 18 | - |
| SLC1A2 | Epileptic encephalopathy, early infantile, 41 | |
| SLC1A3 | Episodic ataxia | AD |
| SLC1A4 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | AR |
| SLC20A2 | Basal ganglia calcification, idiopathic, 1 | AD |
| SLC22A5 | Carnitine deficiency, systemic primary | AR |
| SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
| SLC25A12 | Developmental and epileptic encephalopathy 39 | AR |
| SLC25A13 | Citrullinemia, type II, neonatal-onset | AR |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC25A19 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency | AR |
| SLC25A22 | Epileptic encephalopathy, early infantile | AR |
| SLC25A26 | Combined oxidative phosphorylation deficiency 28 | AR |
| SLC25A3 | Mitochondrial phosphate carrier deficiency | AR |
| SLC25A38 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
| SLC25A4 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | AR |
| SLC25A42 | | AR |
| SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB | AR |
| SLC27A4 | Ichthyosis prematurity syndrome | AR |
| SLC2A1 | Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome | AD/AR |
| SLC2A10 | Arterial tortuosity syndrome | AR |
| SLC30A10 | Hypermanganesemia with dystonia 1 | AR |
| SLC33A1 | Congenital cataracts, hearing loss, and neurodegeneration | AR |
| SLC35A1 | Congenital disorder of glycosylation | AR |
| SLC35A2 | Congenital disorder of glycosylation | XL |
| SLC35A3 | ?Arthrogryposis, mental retardation, and seizures | AR |
| SLC35C1 | Congenital disorder of glycosylation, type IIc | AR |
| SLC38A8 | Foveal hypoplasia 2 | AR |
| SLC39A14 | ?Hyperostosis cranalis interna | AD |
| SLC39A8 | Congenital disorder of glycosylation, type IIn | AR |
| SLC3A1 | Cystinuria | AD, AR |
| SLC46A1 | Folate malabsorption | AR |
| SLC4A4 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
| SLC52A2 | Brown-Vialetto-Van Laere syndrome | AR |
| SLC52A3 | Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome | AR |
| SLC5A7 | Neuronopathy, distal hereditary motor, type VIIA | AD |
| SLC6A1 | Myoclonic-astastic epilepsy | AD |
| SLC6A17 | Mental retardation, autosomal recessive 48 | AR |
| SLC6A19 | Iminoglycinuria, digenic | AR, DR |
| SLC6A3 | Nicotine dependence, protection against | - |
| SLC6A4 | Obsessive-compulsive disorder | AD |
| SLC6A5 | Hyperekplexia | AD/AR |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 | XLR |
| SLC6A9 | Glycine encephalopathy with normal serum glycine | AR |
| SLC7A7 | Lysinuric protein intolerance | AR |
| SLC9A1 | Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome) | AR |
| SLC9A6 | Mental retardation, syndromic, Christianson | XL |
| SLC9A9 | ?Autism susceptibility 16 | - |
| SLCO1B3 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome | AD |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| SMARCA2 | Blepharophimosis-impaired intellectual development syndrome | AD |
| SMARCA4 | Coffin-Siris syndrome 4 | AD |
| SMARCB1 | Coffin-Siris syndrome 3 | AD |
| SMARCC2 | Coffin-Siris syndrome 8 | AD |
| SMARCE1 | Coffin-Siris syndrome 5 | AD |
| SMC1A | Cornelia de Lange syndrome | XL |
| SMC1A | Developmental and epileptic encephalopathy 85, with or without midline brain defects | XLD |
| SMC3 | Cornelia de Lange syndrome 3 | AD |
| SMCHD1 | Facioscapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy, type 2 | AD |
| SMCHD1 | Bosma arhinia microphthalmia syndrome | AD |
| SMPD1 | Niemann-Pick disease, type A | AR |
| SMPD4 | Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | AR |
| SMS | Mental retardation, Snyder-Robinson | XL |
| SNAI2 | Waardenburg syndrome, type 2D | AR |
| SNAP25 | Myasthenic syndrome, congenital | AD |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
| SNCA | Parkinson disease, Dementia with Lewy bodies | AD |
| SNCB | Dementia, Lewy body | AD |
| SNIP1 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | AR |
| SNORD118 | Leukoencephalopathy, brain calcifications, and cysts (Labrune syndrome) | AR |
| SNTA1 | Long QT syndrome 12 | AD |
| SNX10 | Osteopetrosis, autosomal recessive 8 | AR |
| SNX14 | Spinocerebellar ataxia | AR |
| SOBP | Mental retardation, anterior maxillary protrusion, and strabismus | AR |
| SOD1 | Amyotrophic lateral sclerosis, Keratoconus | AD/AR |
| SOD2 | Microvascular complications of diabetes 6 | - |
| SON | ZTTK syndrome | AD |
| SORL1 | Early-onset Alzheimer disease | AD |
| SOS1 | Noonan syndrome 4 | AD |
| SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndrome | AD |
| SOX11 | Coffin-Siris syndrome 9 | AD |
| SOX2 | Microphthalmia, syndromic 3 | AD |
| SOX3 | Panhypopituitarism, X-linked | XL |
| SOX5 | Lamb-Shaffer syndrome | AD |
| SPART | Troyer syndrome | AR |
| SPAST | Spastic paraplegia | AD |
| SPATA5 | Developmental delay with or without dysmorphic facies and autism, Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) | AR |
| SPEG | Centronuclear myopathy 5 | AR |
| SPG11 | Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease | AR |
| SPG20 | Spastic paraplegia (Troyer syndrome) | AR |
| SPG21 | Mast syndrome | AR |
| SPG7 | Spastic paraplegia | AR |
| SPR | Dystonia, Dopa-responsive, due to sepiapterin reductase deficiency | AR |
| SPTAN1 | Epileptic encephalopathy, early infantile | AD |
| SPTBN2 | Spinocerebellar ataxia | AD/AR |
| SPTBN4 | Myopathy, congenital, with neuropathy and deafness | AR |
| SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | AD |
| SPTLC2 | Hereditary sensory and autonomic neuropathy | AD |
| SQSTM1 | Paget disease of bone, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Myopathy, distal, with rimmed vacuoles, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | AD/AR |
| SRCAP | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | AD |
| SRD5A3 | Congenital disorder of glycosylation, type Iq | AR |
| SRPX2 | ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia | XL |
| SSR4 | Congenital disorder of glycosylation | XL |
| ST3GAL3 | Epileptic encephalopathy, early infantile, Intellectual developmental disorder | AR |
| ST3GAL5 | Ganglioside GM3 synthase deficiency | AR |
| STAC3 | Native American myopathy | |
| STAG1 | Mental retardation, autosomal dominant 47 | AD |
| STAG2 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | XL |
| STAMBP | Microcephaly-capillary malformation syndrome | AR |
| STAR | Lipoid adrenal hyperplasia | AR |
| STAT1 | Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant | AD |
| STAT2 | Pseudo-TORCH syndrome 3 | AR |
| STIL | Microcephaly 7, primary, autosomal recessive | AR |
| STIM1 | Stormorken syndrome, Immunodeficiency, Myopathy, tubular aggregate 1 | AD/AR |
| STRA6 | Microphthalmia, isolated, with coloboma 8 | AR |
| STRADA | Polyhydramnios, megalencephaly, and symptomatic epilepsy | AR |
| STT3A | Congenital disorder of glycosylation, type Iw, autosomal dominant | AD |
| STUB1 | Spinocerebellar ataxia | AD/AR |
| STX1B | Generalized epilepsy with febrile seizures plus | AD |
| STX1B | Generalized epilepsy with febrile seizures plus, type 9 | AD |
| STXBP1 | Epileptic encephalopathy, early infantile | AD |
| SUCLA2 | Mitochondrial DNA depletion syndrome | AR |
| SUCLG1 | Mitochondrial DNA depletion syndrome | AR |
| SUGCT | Glutaric aciduria III | AR |
| SUMF1 | Multiple sulfatase deficiency | AR |
| SUOX | Sulfocysteinuria | AR |
| SURF1 | Leigh syndrome, Charcot-Marie-Tooth disease | AR |
| SYN1 | Epilepsy, with variable learning disabilities and behavior disorders | XL |
| SYN2 | Schizophrenia, susceptibility to | AD |
| SYNE1 | Spinocerebellar ataxia, autosomal recessive 8 | AD/AR |
| SYNE2 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | AD |
| SYNGAP1 | Intellectual developmental disorder | AD |
| SYNJ1 | Developmental and epileptic encephalopathy 53 | AR |
| SYP | Intellectual developmental disorder | XL |
| SYT14 | Spinocerebellar ataxia | AR |
| SYT2 | Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | AR |
| SZT2 | Epileptic encephalopathy, early infantile | AR |
| TACO1 | Mitochondrial complex IV deficiency, nuclear type 8 | AR |
| TAF1 | Dystonia 3, torsion, X-linked, Mental retardation, X-linked, syndromic 33 | XL |
| TAF13 | Mental retardation, autosomal recessive 60 | AR |
| TAF15 | Chondrosarcoma, extraskeletal myxoid | - |
| TAF2 | Mental retardation, autosomal recessive 40 | AR |
| TAF6 | Alazami-Yuan syndrome | AR |
| TANGO2 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) | AR |
| TAOK1 | Developmental delay with or without intellectual impairment or behavioral abnormalities | AD |
| TARDBP | Frontotemporal lobar degeneration, TARDBP-related | AD |
| TARS2 | ?Combined oxidative phosphorylation deficiency 21 | AR |
| TBC1D23 | Pontocerebellar hypoplasia, type 11 | AR |
| TBC1D24 | Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome, Deafness, autosomal dominant, 65, Myoclonic epilepsy, infantile, familial, Epileptic encephalopathy, early infantile, 16, Deafness, autosomal recessive 86 | AD/AR |
| TBCD | Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) | AR |
| TBCE | Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) | AR |
| TBCK | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | AR |
| TBK1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | AD |
| TBL1XR1 | Pierpont syndrome | AD |
| TBR1 | Intellectual developmental disorder with autism and speech delay | AD |
| TBX3 | Ulnar-mammary syndrome | AD |
| TCAP | Muscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) | AD/AR |
| TCF20 | Developmental delay and seizures with or without movement abnormalities (DEDSM) | AD |
| TCF4 | Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome | AD |
| TCIRG1 | Osteopetrosis, autosomal recessive 1 | AR |
| TCOF1 | Treacher Collins syndrome 1 | AD |
| TCTN1 | Joubert syndrome 13 | AR |
| TCTN2 | Joubert syndrome, Meckel syndrome | AR |
| TCTN3 | Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndrome | AR |
| TDP1 | Spinocerebellar ataxia, with axonal neuropathy | AR |
| TDP2 | Spinocerebellar ataxia, autosomal recessive 23 | |
| TECPR2 | Spastic paraplegia 49, autosomal recessive | AR |
| TECR | Mental retardation, autosomal recessive 14 | AR |
| TECTA | Deafness, autosomal dominant 8/12 | AD |
| TENM4 | Essential tremor, hereditary, 5 | AD |
| TET2 | Myelodysplastic syndrome, somatic | - |
| TFAP2A | Branchiooculofacial syndrome | AD |
| TFG | Spastic paraplegia, Hereditary motor and sensory neuropathy, proximal | AR |
| TFR2 | Hemochromatosis, type 3 | AR |
| TG | Thyroid dyshormonogenesis 3 | AR |
| TGFB1 | Camurati-Engelmann disease | AD |
| TGFB3 | Loeys-Dietz syndrome 5 | AD |
| TGIF1 | Holoprosencephaly 4 | AD |
| TGM6 | Spinocerebellar ataxia | AD |
| TH | Segawa syndrome, autosomal recessive | AR |
| THAP1 | Dystonia 6, torsion | AD |
| THOC2 | Mental retardation, X-linked 12, Arthrogryposis multiplex congenita | XL |
| THOC6 | Microcephaly | AR |
| THRA | Hypothyroidism, congenital, nongoitrous, 6 | AD |
| THRB | Thyroid hormone resistance, autosomal recessive | AR |
| TIA1 | Welander distal myopathy | AD |
| TIMM50 | 3-methylglutaconic aciduria, type IX | AR |
| TIMM8A | Mohr-Tranebjaerg syndrome | XLR |
| TIMMDC1 | Mitochondrial complex I deficiency, nuclear type 31 | AR |
| TINF2 | Revesz syndrome | AD |
| TK2 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | AR |
| TLK2 | Mental retardation, autosomal dominant 57 | AD |
| TMCO1 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
| TMEM106B | Leukodystrophy, hypomyelinating, 16 | AD |
| TMEM126A | Optic atrophy | AR |
| TMEM126B | Mitochondrial complex I deficiency | AR |
| TMEM138 | Joubert syndrome | AR |
| TMEM165 | Congenital disorder of glycosylation, type IIk | AR |
| TMEM199 | Congenital disorder of glycosylation, type IIp | AR |
| TMEM216 | Joubert syndrome, Meckel syndrome | AR |
| TMEM231 | Joubert syndrome, Meckel syndrome | AR |
| TMEM237 | Joubert syndrome | AR |
| TMEM240 | Spinocerebellar ataxia | AD |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy | AD |
| TMEM5 | Muscular dystrophy-dystroglycanopathy | AR |
| TMEM67 | Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndrome | AR |
| TMEM70 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
| TMEM94 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) | AR |
| TMLHE | Autism, susceptibility to, X-linked 6 | XLR |
| TMTC3 | Lissencephaly 8 | AR |
| TMX2 | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | AR |
| TNIK | Mental retardation, autosomal recessive 54 | AR |
| TNNI2 | Arthrogryposis, distal, type 2B1 | AD |
| TNNT1 | Nemaline myopathy | AR |
| TNNT3 | Arthrogryposis, distal, type 2B2 | AD |
| TNPO3 | Muscular dystrophy, limb-girdle | AD |
| TOE1 | Pontocerebellar hypoplasia, type 7 | AR |
| TOP3A | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | AR |
| TOR1A | Dystonia 1, torsion | AD |
| TOR1AIP1 | Muscular dystrophy with progressive weakness, distal contractures and rigid spine | AD/AR |
| TPI1 | Hemolytic anemia due to triosephosphate isomerase deficiency | AR |
| TPK1 | Thiamine metabolism dysfunction syndrome 5 | AR |
| TPM2 | CAP myopathy, Nemaline myopathy, Arthrogryposis, distal | AD |
| TPM3 | Myopathy, congenital, with fiber-type disproportion | AD, AR |
| TPO | Thyroid dyshormonogenesis 2A | AR |
| TPP1 | Spinocerebellar ataxia, Neuronal ceroid lipofuscinosis type 2 | AR |
| TPP1 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| TRAF3IP1 | Senior-Loken syndrome 9 | AR |
| TRAF7 | Cardiac, facial, and digital anomalies with developmental delay | AD |
| TRAK1 | Epileptic encephalopathy | AR |
| TRAPPC11 | Limb-girdle muscular dystrophy | AR |
| TRAPPC4 | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | AR |
| TRAPPC9 | Mental retardation, autosomal recessive 13 | AR |
| TREM2 | Nasu-Hakola disease, Early-onset dementia without bone cysts, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | AR |
| TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndrome | AD/AR |
| TRIM2 | Charcot-Marie-Tooth disease | AR |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle | AR |
| TRIM8 | Epileptic encephalopathy | AD |
| TRIO | Intellectual developmental disorder, autosomal dominant 44, with microcephaly | AD |
| TRIP12 | Intellectual developmental disorder | AD |
| TRIP4 | Spinal muscular atrophy with congenital bone fractures 1 | AR |
| TRIT1 | Combined oxidative phosphorylation deficiency 35 | |
| TRMT10A | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
| TRMT10C | Combined oxidative phosphorylation deficiency 30 | AR |
| TRMT5 | Combined oxidative phosphorylation deficiency 26 | AR |
| TRMU | Liver failure, transient infantile | AR |
| TRNT1 | Retinitis pigmentosa and erythrocytic microcytosis | AR |
| TRPC6 | Glomerulosclerosis, focal segmental, 2 | AD |
| TRPM1 | Night blindness, congenital stationary (complete), 1C, autosomal recessive | - |
| TRPM6 | Hypomagnesemia 1, intestinal | AR |
| TRPS1 | Trichorhinophalangeal syndrome, type I | AD |
| TRPV4 | Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactyly | AD |
| TRRAP | Developmental delay with or without dysmorphic facies and autism | AD |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis | AD |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis | AD |
| TSEN15 | Pontocerebellar hypoplasia, type 2F | AR |
| TSEN2 | Pontocerebellar hypoplasia type 2B | AR |
| TSEN34 | ?Pontocerebellar hypoplasia type 2C | AR |
| TSEN54 | Pontocerebellar hypoplasia type 2A | AR |
| TSFM | Combined oxidative phosphorylation deficiency 3 | AR |
| TSHB | Hypothyroidism, congenital, nongoitrous 4 | AR |
| TSHR | Hyperthyroidism, nonautoimmune | AD |
| TSPAN7 | Mental retardation, X-linked 58 | XLR |
| TTBK2 | Spinocerebellar ataxia | AD |
| TTC19 | Mitochondrial complex III deficiency, nuclear type 2 | AR |
| TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| TTC8 | Bardet-Biedl syndrome, Retinitis pigmentosa | AR |
| TTI2 | Mental retardation, autosomal recessive 39 | AR |
| TTN | Cardiomyopathy, dilated, 1G | - |
| TTPA | Ataxia with isolated vitamin E deficiency | AR |
| TTR | Dystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-related | AD |
| TUBA1A | Lissencephaly 3 | AD |
| TUBA4A | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | AD |
| TUBA8 | Polymicrogyria with optic nerve hypoplasia | AR |
| TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 | AD |
| TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 | AD |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations 1 | AD |
| TUBB4A | Dystonia 4, torsion, autosomal dominant | AD |
| TUBG1 | Cortical dysplasia, complex, with other brain malformations 4 | AD |
| TUBGCP4 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | AR |
| TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | AR |
| TUFM | Combined oxidative phosphorylation deficiency 4 | AR |
| TUSC3 | Mental retardation, autosomal recessive 7 | AR |
| TWIST1 | Craniosynostosis 1 | AD |
| TWNK | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | AD |
| TYMP | Mitochondrial DNA depletion syndrome | AR |
| TYMP | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | AR |
| TYR | [Skin/hair/eye pigmentation 3, light/dark/freckling skin] | AD |
| TYROBP | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | AR |
| UBA1 | Spinal muscular atrophy, infantile | XL |
| UBA5 | Developmental and epileptic encephalopathy 44 | AR |
| UBAP1 | Spastic paraplegia 80, autosomal dominant | AD |
| UBE2A | Mental retardation, syndromic, Nascimento | XL |
| UBE3A | Angelman syndrome | AD |
| UBE3B | Kaufman oculocerebrofacial syndrome | AR |
| UBQLN2 | Amyotrophic lateral sclerosis | XL |
| UBR1 | Johanson-Blizzard syndrome | AR |
| UBTF | Neurodegeneration, childhood-onset, with brain atrophy | AD |
| UCHL1 | Parkinson disease 5, autosomal dominant, Spastic paraplegia 79, autosomal recessive | AD/AR |
| UFM1 | Leukodystrophy, hypomyelinating, 14 | AR |
| UGP2 | Developmental and epileptic encephalopathy 83 | AR |
| UMPS | Orotic aciduria | AR |
| UNC80 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR |
| UNG | Immunodeficiency with hyper IgM, type 5 | AR |
| UPB1 | Beta-ureidopropionase deficiency | AR |
| UPF3B | Mental retardation, syndromic | XL |
| UQCC2 | Mitochondrial complex III deficiency, nuclear type 7 | AR |
| UQCRB | Mitochondrial complex III deficiency, nuclear type 3 | AR |
| UQCRC2 | Mitochondrial complex III deficiency, nuclear type 5 | AR |
| UQCRQ | Mitochondrial complex III deficiency, nuclear type 4 | AR |
| UROC1 | ?Urocanase deficiency | AR |
| UROD | Porphyria cutanea tarda, Porphyria, hepatoerythropoietic | AD/AR |
| UROS | Porphyria, congenital erythropoietic | AR |
| USH2A | Usher syndrome, type 2A | AR |
| USP8 | Pituitary adenoma 4, ACTH-secreting, somatic | - |
| USP9X | Mental retardation, X-linked 99, Mental retardation, X-linked 99, syndromic, female restricted | XL |
| USP9Y | Spermatogenic failure, Y-linked, 2 | XL |
| VAC14 | Striatonigral degeneration, childhood-onset | |
| VAMP1 | Spastic ataxia | AD |
| VAMP2 | | AD |
| VANGL1 | Caudal regression syndrome | AD |
| VAPB | Amyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, Finkel | AD |
| VARS | Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT), Encephalopathy, progressive | AR |
| VARS1 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | AR |
| VARS2 | Combined oxidative phosphorylation deficiency 20 | AR |
| VCP | Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth disease | AD |
| VDR | Rickets, vitamin D-resistant, type IIA | AR |
| VHL | Pheochromocytoma | AD |
| VIPAS39 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
| VLDLR | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
| VMA21 | Myopathy, X-linked, with excessive autophagy | XL |
| VPS11 | Leukodystrophy, hypomyelinating, 12 | AR |
| VPS13A | Choreoacanthocytosis | AR |
| VPS13B | Cohen syndrome | AR |
| VPS13C | Parkinson disease 23, autosomal recessive, early onset | AR |
| VPS13D | Spinocerebellar ataxia | AR |
| VPS33B | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR |
| VPS35 | Parkinson disease 17 | AD |
| VPS37A | Spastic paraplegia 53, autosomal recessive | AR |
| VPS53 | Pontocerebellar hypoplasia, type 2E | AR |
| VRK1 | Pontocerebellar hypoplasia type 1A | AR |
| VWA3B | Spinocerebellar ataxia, autosomal recessive 22 | |
| WAC | Desanto-Shinawi syndrome | AD |
| WARS2 | Encephalopathy, mitochondrial | AR |
| WASF1 | Intellectual disability and seizures | AD |
| WASHC4 | ?Mental retardation, autosomal recessive 43 | AR |
| WASHC5 | Spastic paraplegia 8, autosomal dominant | AD |
| WDFY3 | ?Microcephaly 18, primary, autosomal dominant | AD |
| WDPCP | Meckel-Gruber syndrome, modifier, Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly | AR |
| WDR26 | Skraban-Deardorff syndrome | AD |
| WDR37 | Neurooculocardiogenitourinary syndrome | AD |
| WDR45 | Neurodegeneration with brain iron accumulation | XL |
| WDR45B | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | AR |
| WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | AR |
| WDR73 | Galloway-Mowat syndrome 1 | AR |
| WDR81 | Dysequilibrium syndrome | AR |
| WFS1 | Wolfram syndrome, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41 | AD/AR |
| WNK1 | Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism | AD/AR |
| WNT1 | Osteogenesis imperfecta, type XV | AR |
| WNT5A | Robinow syndrome, autosomal dominant 1 | AD |
| WNT7A | Fuhrmann syndrome | AR |
| WWOX | Esophageal squamous cell carcinoma, somatic | - |
| XK | McLeod syndrome with or without chronic granulomatous disease | XL |
| XPNPEP3 | Nephronophthisis-like nephropathy 1 | AR |
| XPR1 | Basal ganglia calcification, idiopathic, 6 | AD |
| XRCC1 | Spinocerebellar ataxia, autosomal recessive, 26 | |
| XRCC4 | Short stature, microcephaly, and endocrine dysfunction | AR |
| YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | AD |
| YARS | Charcot-Marie-Tooth disease | AD |
| YARS1 | Charcot-Marie-Tooth disease, dominant intermediate C | AD |
| YARS2 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
| YME1L1 | Optic atrophy 11 | |
| YWHAE | Distal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, 17p13.3 microduplication syndrome, Miller-Dieker syndrome | AD/AR |
| YWHAG | Epileptic encephalopathy, early infantile, 56 | |
| YY1 | Gabriele-de Vries syndrome (GADEVS) | AD |
| ZBTB16 | Skeletal defects, genital hypoplasia, and mental retardation | AR |
| ZBTB18 | Mental retardation, autosomal dominant 22 | AD |
| ZBTB20 | Primrose syndrome | AD |
| ZBTB24 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | AR |
| ZC3H14 | Mental retardation, autosomal recessive 56 | AR |
| ZC4H2 | Wieacker-Wolff syndrome | XL |
| ZCCHC12 | Intellectual developmental disorder | XL |
| ZDHHC9 | Mental retardation, X-linked syndromic, Raymond type | XL |
| ZEB2 | Mowat-Wilson syndrome | AD |
| ZFYVE26 | Spastic paraplegia 15, autosomal recessive | AR |
| ZFYVE27 | Spastic paraplegia 33, autosomal dominant | AD |
| ZIC1 | Structural brain anomalies with impaired intellectual development and craniosynostosis | AD |
| ZIC2 | Holoprosencephaly 5 | AD |
| ZIC3 | VACTERL association, X-linked | XLR |
| ZMYND11 | Mental retardation, autosomal dominant 30 | AD |
| ZNF142 | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | AR |
| ZNF148 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) | |
| ZNF292 | Intellectual developmental disorder, autosomal dominant 64 | AD |
| ZNF335 | Microcephaly 10, primary, autosomal recessive | AR |
| ZNF41 | Intellectual developmental disorder | XL |
| ZNF423 | Joubert syndrome 19 | AD, AR |
| ZNF674 | Intellectual developmental disorder | XL |
| ZNF699 | DEGCAGS syndrome | AR |
| ZNF711 | Intellectual developmental disorder | XL |
| ZNF81 | Intellectual developmental disorder | XL |
| ZNHIT3 | PEHO syndrome | |
| ZSWIM6 | Acromelic frontonasal dysostosis | AD |