Generalized Epilepsy with Febrile Seizures
Disease synonyms
Generalized epilepsy with febrile seizures, GEFSP, Generalized epilepsy with febrile seizures plus; GEFSP, GEFS+, Familial febrile seizures, FEB
Inheritance pattern
Autosomal dominant
Clinical features
Epilepsy (generalized) with febrile seizures is a complex autosomal dominant disorder characterized by generalized febrile convulsions. Febrile seizures are the most common convulsive event occurring in 2-6% of the population 1. The lifetime prevalence of febrile seizures is estimated at 3-4% of all children in Europe and North America and is even higher in Japan and Scandinavia 2, 3. About 40% of children with a first febrile seizure will have a recurrence, with one third of patients with only febrile seizures and two thirds with a variety of epilepsy syndromes, both focal and generalized. Febrile seizures most commonly present at the age of 18 months with about 80% of incident febrile seizures occurring between 1 and 3 years of age 1, 2.
Epidemiologic studies have led to the division of febrile seizures into 3 groups, as follows:
- Simple febrile seizures
- Complex febrile seizures
- Symptomatic febrile seizures
Children with simple febrile seizures are neurologically and developmentally healthy before and after the seizure. In the absence of fever they do not experience a seizure. The seizure is described as either a generalized clonic or a generalized tonic-clonic seizure. Simple febrile seizure activity usually lasts for 15 minutes or less, although a postictal period of sleepiness or confusion can extend beyond these 15 minutes. Simple febrile seizures often occur with the initial temperature elevation at the onset of illness and they could be the first indication of the disease. Symptomatic febrile seizures are accompanied by the preexisting neurologic abnormality or acute illness.
Febrile seizures are considered a genetic disorder, most commonly reported with an autosomal dominant mode of inheritance. Several genes, which encode sodium or GABA receptor subunits, have been associated with febrile seizures phenotypes (see table):
- Idiopathic generalized epilepsy 10, generalized epilepsy with febrile seizures plus type 5 and juvenile myoclonic epilepsy 7 can be conferred by variations in the GABRD gene on chromosome 1p36.3, encoding GABA receptor subunit delta. Three heterozygous missense pathogenic variants have been reported in this gene so far: p.E177A, p.R220C, and p.R220H, all associated with generalized epilepsy with febrile seizures 4 (HGMD® Professional 2017.1).
- The GABRG2 gene encodes additional GABA receptor protein, and mutations in this gene have primarily been associated with generalized epilepsy with febrile seizures (7/26). Mutations in GABRG2 have also been associated with Rolandic epilepsy (2/26), childhood absence epilepsy (2/26), generalized epilepsy (2/26), and others (HGMD® Professional 2017.1).
- The SCN1A gene encodes the alpha subunit of the neuronal voltage-gated sodium channel. SCN1A-related seizure disorders are channelopathies characterized by seizures as their primary manifestation. The molecular abnormality causes neuronal dysfunction and hyperexcitability at the level of the cortical network, which is a morphological substrate for seizure disorders. More than 1300 pathogenic variants have been reported in SCN1A, primarily associated with Dravet syndrome (597/1378) (HGMD® Professional 2017.1), myoclonic epilepsy of infancy (407/1378), generalized epilepsy with febrile seizures plus (63/1378), and other seizure-related phenotypes. Generalized epilepsy with febrile seizures plus (GEFS+) is mostly associated with missense SCN1A pathogenic variants 5. Almost half the pathogenic variants associated with the severe myoclonic epilepsy in infancy and Dravet syndrome are truncating variants of SCN1A and the remainder includes missense SCN1A variants (39%-43%), splice site variants (7%), and deletions (3%) 6.
- Generalized epilepsy with febrile seizures plus-1 (GEFSP1) is caused by heterozygous mutations in the SCN1B gene on chromosome 19q13. The SCN1B gene encodes a beta-1 subunit of voltage-gated sodium channels that regulates generation and propagation of action potentials in nerve and muscle. Mutations in SCN1B have been associated with Brugada syndrome (5/20), generalized epilepsy with febrile seizures (5/20), atrial fibrillation (2/20), idiopathic and generalized epilepsy (2/20), and other conditions associated with neuronal membrane activity (HGMD® Professional 2017.1).
- Benign familial neonatal-infantile seizures-3 (BFIS3) is caused by heterozygous mutation in the SCN2A gene on chromosome 2q24. SCN2A encodes a subunit of sodium channel and similar to SCN1B regulates formation and propagation of action potential in neuronal and muscle cells. More than 160 pathogenic variants have been reported in this gene so far (HGMD® Professional 2017.1) and these have been assigned to autistic spectrum disorders (32/162), epileptic encephalopathy (20/162), neonatal-infantile seizures (18/162), benign infantile seizures (7/162), and other epilepsy-related phenotypes.
- Generalized epilepsy with febrile seizures plus, type 7 (GEFSP7) and familial febrile seizures-3B (FEB3B) are both caused by heterozygous mutations in the SCN9A gene on chromosome 2q24, encoding a subunit of sodium channel. More than 100 pathogenic variants in the SCN9A gene have been reported (HGMD® Professional 2017.1), associated with congenital insensitivity to pain (28/1049, erythromelalgia (12/104), febrile seizures (7/104), Dravet syndrome (17/104), and other phenotypes.
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
AARS1 | 601065 | type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 | AD, AR |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome; autosomal recessive cataract type 38 | AR |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALDOB | 612724 | hereditary fructose intolerance | AR |
ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
AMT | 238310 | glycine encephalopathy | AR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
APP | 104760 | Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARG1 | 608313 | Argininemia | AR |
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ARSB | 611542 | mucopolysaccharidosis type VI | AR |
ARV1 | 611647 | early infantile epileptic encephalopathy type 38 | AR |
ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASL | 608310 | argininosuccinic aciduria | AR |
ASPA | 608034 | Canavan disease | AR |
ASS1 | 603470 | citrullinemia | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A2 | 182340 | familial hemiplegic migraine type 2 | AD |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BEST1 | 607854 | vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50 | AD |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRAT1 | 614506 | Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNA1H | 607904 | childhood absence epilepsy type 6 | AD |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CAV1 | 601047 | AD, AR | |
CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
CERS1 | 606919 | Progressive myoclonic epilepsy-8 | AR |
CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
CHRNA2 | 118502 | Epilepsy, Nocturnal Frontal Lobe, 4 | AD |
CHRNA4 | 118504 | Tobacco Addiction, Susceptibility To; Epilepsy, nocturnal frontal lobe, 1 | AD |
CHRNB2 | 118507 | Epilepsy, nocturnal frontal lobe, 3 | |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLCN4 | 302910 | MENTAL RETARDATION, X-LINKED 49 | XLD |
CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
CNNM2 | 607803 | Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 | AD, AR |
CNTNAP2 | 604569 | Pitt-Hopkins like syndrome 1; Autism susceptibility 15 | AR |
COA8 | 616003 | Mitochondrial complex IV deficiency | AR, M |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | congenital disorder of glycosylation type 2j; Saul-Wilson syndrome | AD, AR |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | congenital disorder of glycosylation type 2h | |
COL11A2 | 120290 | Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 | AD, AR |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
COL4A2 | 120090 | Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to | AD |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPA6 | 609562 | Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 | AD, AR |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
CTSA | 613111 | galactosialidosis | AR |
CTSC | 602365 | Papillon-Lefevre syndrome | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CTSF | 603539 | neuronal ceroid lipofuscinosis type 13 | AR |
CTSK | 601105 | pycnodysostosis | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | spastic paraplegia 56 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DAG1 | 128239 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci | AD |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities | AD, AR |
DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNM1 | 602377 | early infantile epileptic encephalopathy, 31 | AD |
DNM1L | 603850 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission | AD, AR |
DOCK7 | 615730 | early infantile epileptic encephalopathy 23 | AR |
DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
DPAGT1 | 191350 | congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
DYRK1A | 600855 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | AD |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
EFHC1 | 608815 | Epilepsy, myoclonic juvenile | AD |
EGF | 131530 | Hypomagnesemia 4, renal | |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
ERCC6 | 609413 | Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 | AD, AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
F2 | 176930 | thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2 | AD, AR |
F5 | 612309 | thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1 | AD, AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FASTKD2 | 612322 | AR | |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FGF12 | 601513 | AD | |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
FOLR1 | 136430 | cerebral folate transport deficiency | AR |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXRED1 | 613622 | AR | |
FRRS1L | 604574 | Epileptic encephalopathy, early infantile, 37 | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FUCA1 | 612280 | fucosidosis | AR |
FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
GAA | 606800 | Pompe disease | AR |
GABRA1 | 137160 | Epilepsy, Juvenile Myoclonic, Susceptibility To, 5; early infantile epileptic encephalopathy, 19 | AD |
GABRB3 | 137192 | Epilepsy, Childhood Absence, Susceptibility To, 5 | AD |
GABRD | 137163 | Epilepsy, idiopathic generalized, 10 | AD |
GABRG2 | 137164 | Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized epilepsy with febrile seizures plus type 3 | AD |
GALC | 606890 | Krabbe disease | AR |
GALNS | 612222 | mucopolysaccharidosis type IVA | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GCDH | 608801 | glutaric academia type I | AR |
GCSH | 238330 | glycine encephalopathy | AR |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | AR | |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GLDC | 238300 | glycine encephalopathy | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GNAO1 | 139311 | early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements | AD |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
GNPTAB | 607840 | mucolipidosis II alpha/beta; mucolipidosis III alpha/beta | AR |
GNPTG | 607838 | mucolipidosis III gamma | AR |
GNS | 607664 | mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GRIN1 | 138249 | mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 | AD |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUF1 | 617064 | early infantile epileptic encephalopathy, 40 | AR |
GUSB | 611499 | mucopolysaccharidosis type VII | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HCFC1 | 300019 | mental retardation 3 | XLR |
HCN1 | 602780 | early infantile epileptic encephalopathy 24 | AD |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HEXB | 606873 | Sandhoff disease | AR |
HGSNAT | 610453 | mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNRNPU | 602869 | Epileptic encephalopathy, early infantile, 54 | AD |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HTRA1 | 602194 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 | AD, AR |
HYAL1 | 607071 | Mucopolysaccharidosis type IX | AR |
IARS2 | 612801 | Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia | AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
IDS | 300823 | mucopolysaccharidosis type II | XLR |
IDUA | 252800 | mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
IQSEC2 | 300522 | MENTAL RETARDATION, X-LINKED 1 | XLD |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome type 4 | AR |
ITPA | 147520 | Epileptic encephalopathy, early infantile, 35 | AR |
IVD | 607036 | isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts | AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Epileptic encephalopathy, early infantile, 32 | AD |
KCNB1 | 600397 | early infantile epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
KCNT1 | 608167 | early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5 | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB1 | 150240 | lissencephaly 5 | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | AD |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MARS2 | 609728 | AR | |
MBD5 | 611472 | mental retardation-1 | AD |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCOLN1 | 605248 | Mucolipidosis type IV | AR |
MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
MED17 | 603810 | postnatal progressive microcephaly, seizures, and brain atrophy | AR |
MEF2C | 600662 | mental retardation- 20 | AD |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | mitochondrial DNA depletion syndrome 11 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MOCS2 | 603708 | molybdenum cofactor deficiency of complementation group B | AR |
MOGS | 601336 | congenital disorder of glycosylation type 2b | AR |
MPDU1 | 604041 | congenital disorder of glycosylation type 1f | AR |
MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MRPS22 | 605810 | Combined oxidative phosphorylation deficiency 5 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTOR | 601231 | Smith-Kingsmore syndrome | AD |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYOT | 604103 | Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A | AD |
NAGA | 104170 | Schindler disease, type I, III | AR |
NAGLU | 609701 | mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA12 | 614530 | Mitochondrial complex I deficiency nuclear type 23 | AR |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | AR | |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NECAP1 | 611623 | early infantile epileptic encephalopathy 21 | AR |
NEDD4L | 606384 | Periventricular nodular heterotopia 7 | AD |
NEU1 | 608272 | neuraminidase deficiency | AR |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NRXN1 | 600565 | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | AR |
NUBPL | 613621 | AR | |
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
PAH | 612349 | phenylketonuria | AR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PET100 | 614770 | Mitochondrial complex IV deficiency | AR, M |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHYH | 602026 | Refsum disease | AR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLCB1 | 607120 | early infantile epileptic encephalopathy 12 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
PSAP | 176801 | metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease | AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | mental retardation- 31 | AD |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAI1 | 607642 | Smith-Magenis syndrome | AD |
RARS1 | 107820 | hypomyelinating leukodystrophy-9 | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RBFOX1 | 605104 | ||
RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
RPIA | 180430 | AR | |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
SCN1B | 600235 | generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 | AD, AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SCN3A | 182391 | Epilepsy, familial focal, with variable foci 4; early infantile epileptic encephalopathy type 62 | AD |
SCN8A | 600702 | Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 | AD |
SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
SEC23B | 610512 | congenital dyserythropoietic anemia 2; Cowden syndrome 7 | AD, AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
SGCE | 604149 | myoclonus-dystonia | AD |
SGSH | 605270 | mucopolysaccharidosis type IIIA | AR |
SIK1 | 605705 | Epileptic encephalopathy, early infantile, 30 | AD |
SLC12A3 | 600968 | Gitelman syndrome | AR |
SLC12A5 | 606726 | early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 | AD, AR |
SLC13A5 | 608305 | early infantile epileptic encephalopathy 25 | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC1A2 | 600300 | early infantile epileptic encephalopathy type 41 | AD |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | early infantile epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | ||
SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SMC1A | 300040 | Cornelia de Lange syndrome 2 | XLD |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SNTA1 | 601017 | long QT syndrome 12 | AD |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SPART | 607111 | spastic paraplegia 20 | AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPTAN1 | 182810 | Epileptic encephalopathy, early infantile, 5 | AD |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
SSR4 | 300090 | congenital disorder of glycosylation type 1y | XLR |
ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAT1 | 600555 | Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant | AD, AR |
STT3A | 601134 | congenital disorder of glycosylation type 1w | AR |
STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
STX1B | 601485 | generalized epilepsy with febrile seizures plus-9 | AD |
STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUMF1 | 607939 | multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Leigh syndrome | AR, M |
SYN1 | 313440 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
SYNGAP1 | 603384 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | AD |
SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
SZT2 | 615463 | Epileptic encephalopathy, early infantile, 18 | AR |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
TGFB1 | 190180 | Camurati-Engelmann disease; cystic fibrosis | AD, AR |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TMEM126A | 612988 | Optic Atrophy 7 | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSC1 | 605284 | tuberous sclerosis type 1 | AD |
TSC2 | 191092 | tuberous sclerosis-2 | AD |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
UBE3A | 601623 | Angelman syndrome | AD |
UMPS | 613891 | Orotic aciduria | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
A2M | 103950 | Alzheimer Disease | AD |
AAAS | 605378 | Achalasia-addisonianism-alacrimia syndrome | AR |
AARS1 | 601065 | type 2N Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 29 | AD, AR |
AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure | AR |
AASS | 605113 | Hyperlysinemia | AR |
ABAT | 137150 | GABA-transaminase deficiency | AR |
ABCA1 | 600046 | Tangier disease; HDL deficiency, type 2 | AR |
ABCB7 | 300135 | Anemia, Sideroblastic, and Spinocerebellar Ataxia | XLR |
ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste; Pseudoxanthoma elasticum; generalized arterial calcification of infancy type 2 | AD, AR |
ABCC8 | 600509 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; leucine-sensitive hypoglycemia of infancy; familial hyperinsulinemic hypoglycemia type 1; transient neonatal diabetes mellitus type 2 | AD, AR |
ABCD1 | 300371 | adrenoleukodystrophy | XLR |
ABCD3 | 170995 | congenital bile acid synthesis defect-5 | AR |
ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACACA | 200350 | Acetyl-CoA carboxylase deficiency | AR |
ACAD9 | 611103 | Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of | AR |
ACADM | 607008 | medium chain acyl-CoA dehydrogenase deficiency | AR |
ACADS | 606885 | short-chain acyl-CoA dehydrogenase deficiency | AR |
ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACAT1 | 607809 | alpha-methylacetoacetic aciduria | AR |
ACE | 106180 | Renal tubular dysgenesis; Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to | AR |
ACKR1 | 613665 | resistance to malaria | AD, AR |
ACO2 | 100850 | Infantile cerebellar-retinal degeneration | AR |
ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | |
ACSL4 | 300157 | mental retardation 63 | XLD |
ACTA1 | 102610 | Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion | AD, AR |
ACTA2 | 102620 | Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 | AD |
ACTB | 102630 | Baraitser-Winter syndrome 1; Dystonia, juvenile-onset | AD |
ACTG1 | 102560 | Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 | AD |
ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
ADA | 608958 | Adenosine deaminase deficiency | AR |
ADAM10 | 602192 | Reticulate acropigmentation of Kitamura | AD |
ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
ADCY5 | 600293 | Dyskinesia, familial, with facial myokymia | AD |
ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
ADGRV1 | 602851 | Febrile seizures, familial, 4; Usher syndrome type 2C | AD, AR, DiD |
ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
ADNP | 611386 | Helsmoortel-van der Aa syndrome | AD |
ADSL | 608222 | Adenylosuccinase deficiency | AR |
AFF2 | 300806 | Mental Retardation, X-Linked, Associated With Fragile Site Fraxe | XLR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AGA | 613228 | Aspartylglucosaminuria | AR |
AGK | 610345 | Sengers syndrome; autosomal recessive cataract type 38 | AR |
AGL | 610860 | glycogen storage disease type III | AR |
AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
AGRN | 103320 | congenital myasthenic syndrome type 8, with pre- and postsynaptic defects | AR |
AGXT | 604285 | primary hyperoxaluria type 1 | AR |
AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
AIFM1 | 300169 | Deafness, X-linked 5; Combined oxidative phosphorylation deficiency 6; Cowchock syndrome | XLR |
AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
AKAP9 | 604001 | long QT syndrome 11 | AD |
AKT1 | 164730 | familial breast-ovarian cancer type 2; colorectal cancer; Ovarian Cancer; Proteus Syndrome; Cowden syndrome 6 | |
AKT3 | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
ALAD | 125270 | Acute hepatic porphyria | AR |
ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
ALDH4A1 | 606811 | hyperprolinemia, type II | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
ALDOA | 103850 | Glycogen storage disease XII | AR |
ALDOB | 612724 | hereditary fructose intolerance | AR |
ALG1 | 605907 | congenital disorder of glycosylation type 1k | AR |
ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
ALG12 | 607144 | congenital disorder of glycosylation type 1g | AR |
ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
ALG14 | 612866 | AR | |
ALG2 | 607905 | congenital disorder of glycosylation type 1i | AR |
ALG3 | 608750 | congenital disorder of glycosylation type 1d | AR |
ALG6 | 604566 | congenital disorder of glycosylation type 1c | AR |
ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
ALG9 | 606941 | Gillessen-Kaesbach-Nishimura syndrome; congenital disorder of glycosylation type 1l | AR |
ALOX5AP | 603700 | susceptibility to ischemic stroke | |
ALS2 | 606352 | amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending | AR |
ALX1 | 601527 | AR | |
ALX3 | 606014 | Frontonasal dysplasia 1 | AR |
ALX4 | 605420 | Parietal foramina 2; Frontonasal dysplasia 2 | AD, AR |
AMACR | 604489 | Alpha-methylacyl-CoA racemase deficiency | AR |
AMN | 605799 | AR | |
AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
AMPD2 | 102771 | pontocerebellar hypoplasia 9 | AR |
AMT | 238310 | glycine encephalopathy | AR |
ANG | 105850 | amyotrophic lateral sclerosis 9 | |
ANK2 | 106410 | long QT syndrome-4 | AD |
ANK3 | 600465 | autosomal recessive mental retardation type 37 | AR |
ANKRD11 | 611192 | KBG syndrome | AD |
ANO10 | 613726 | autosomal recessive spinocerebellar ataxia 10 | AR |
ANO3 | 610110 | Dystonia 24 | AD |
ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
ANTXR2 | 608041 | Hyaline fibromatosis syndrome | AR |
AP1S1 | 603531 | MEDNIK syndrome | AR |
AP1S2 | 300629 | Pettigrew syndrome | XLR |
AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
AP4B1 | 607245 | spastic paraplegia 47 | AR |
AP4E1 | 607244 | spastic paraplegia 51 | AD, AR |
AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
AP4S1 | 607243 | spastic paraplegia 52 | AR |
AP5Z1 | 613653 | spastic paraplegia 48 | AR |
APOA1 | 107680 | Amyloidosis, familial visceral | AD |
APOE | 107741 | Alzheimer Disease 2; Sea-blue histiocyte disease; Macular Degeneration, Age-Related, 1; early-onset familial Alzheimer disease-3; Lipoprotein glomerulopathy | AD, AR |
APP | 104760 | Alzheimer Disease; Cerebral Amyloid Angiopathy, App-Related | AD |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
AR | 313700 | Prostate Cancer; Androgen insensitivity; X-linked hypospadias type 1; partial androgen insensitivity with or without breast cancer; Spinal and bulbar muscular atrophy of Kennedy | AD, XLR |
ARFGEF2 | 605371 | Periventricular heterotopia with microcephaly | AR |
ARG1 | 608313 | Argininemia | AR |
ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
ARHGEF10 | 608136 | slowed nerve conduction velocity | AD |
ARHGEF6 | 300267 | ||
ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
ARID1A | 603024 | Coffin-Siris syndrome type 2 | AD |
ARID1B | 614556 | Coffin-Siris syndrome 1 | AD |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
ARL6IP1 | 607669 | spastic paraplegia 61 | AR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ARSB | 611542 | mucopolysaccharidosis type VI | AR |
ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
ARV1 | 611647 | early infantile epileptic encephalopathy type 38 | AR |
ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
ASCL1 | 100790 | congenital central hypoventilation syndrome | AD |
ASL | 608310 | argininosuccinic aciduria | AR |
ASNS | 108370 | Asparagine synthetase deficiency | AR |
ASPA | 608034 | Canavan disease | AR |
ASPM | 605481 | primary microcephaly 5 | AR |
ASS1 | 603470 | citrullinemia | AR |
ASXL1 | 612990 | Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic | AD |
ASXL3 | 615115 | Bainbridge-Ropers syndrome | AD |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATIC | 601731 | AR | |
ATL1 | 606439 | spastic paraplegia 3A | AD |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATN1 | 607462 | Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A2 | 182340 | familial hemiplegic migraine type 2 | AD |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP2A1 | 108730 | Brody myopathy | AR |
ATP2A2 | 108740 | Darier disease | AD |
ATP2B3 | 300014 | spinocerebellar ataxia, X-linked 1 | XLR |
ATP5F1E | 606153 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | |
ATP6AP2 | 300556 | syndromic mental retardation, Hedera type | XLR |
ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
ATP7B | 606882 | Wilson disease | AR |
ATP8A2 | 605870 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATPAF2 | 608918 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
ATRX | 300032 | Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked | XLD, XLR |
ATXN1 | 601556 | spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | spinocerebellar ataxia 10 | AD |
ATXN2 | 601517 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 | AD |
ATXN3 | 607047 | spinocerebellar ataxia 3 | AD |
ATXN7 | 607640 | spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 | AD |
AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
AUTS2 | 607270 | mental retardation- 26 | AD |
B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
B3GLCT | 610308 | Peters-plus syndrome | AR |
B4GALNT1 | 601873 | spastic paraplegia 26 | AR |
B4GALT1 | 137060 | congenital disorder of glycosylation type 2d | AR |
B4GAT1 | 605517 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 | AR |
B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
B9D2 | 611951 | Meckel syndrome 10 | AR |
BAG3 | 603883 | Myopathy, myofibrillar, 6; dilated cardiomyopathy-1HH | AD |
BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
BBS10 | 610148 | Bardet-Biedl syndrome type 10 | AR |
BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
BBS2 | 606151 | Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 | AR |
BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
BBS7 | 607590 | Bardet-Biedl syndrome type 7 | AR |
BBS9 | 607968 | Bardet-Biedl syndrome type 9 | AR |
BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
BCKDHA | 608348 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDHB | 248611 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
BCKDK | 614901 | BCKDK deficiency | |
BCOR | 300485 | Microphthalmia, syndromic 2 | XLD |
BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
BDNF | 113505 | ||
BEAN1 | 612051 | spinocerebellar ataxia 31 | AD |
BEST1 | 607854 | vitelliform macular dystrophy-2; vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive; Retinitis pigmentosa 50 | AD |
BICD2 | 609797 | autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 | AD |
BIN1 | 601248 | centronuclear myopathy | AR |
BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
BLOC1S6 | 604310 | Hermansky-pudlak syndrome 9 | AR |
BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 | AR |
BRAF | 164757 | Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 | AD |
BRAT1 | 614506 | Rigidity and multifocal seizure syndrome, lethal neonatal; neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
BRWD3 | 300553 | mental retardation 93 | XLR |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
BSND | 606412 | Bartter Syndrome type 4A | AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf57 | 615140 | Temtamy syndrome | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
C8orf37 | 614477 | Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 | AR |
C9orf72 | 614260 | frontotemporal dementia and/or amyotrophic lateral sclerosis | AD |
CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNA1B | 601012 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | AR |
CACNA1C | 114205 | Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 | AD |
CACNA1D | 114206 | Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities | AD, AR |
CACNA1F | 300110 | Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystropy, X-linked, 3; Aland Island eye disease | XL, XLR |
CACNA1H | 607904 | childhood absence epilepsy type 6 | AD |
CACNA1S | 114208 | hypokalemic periodic paralysis 1; Thyrotoxic periodic paralysis Type 1; Malignant hyperthermia susceptibility 5 | AD |
CACNB2 | 600003 | Brugada syndrome 4 | |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CAPN3 | 114240 | limb-girdle muscular dystrophy type 1; limb-girdle muscular dystrophy type 4 | AD, AR |
CARD11 | 607210 | Immunodeficiency 11B with atopic dermatitis | AD, AR |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
CAV1 | 601047 | AD, AR | |
CAV3 | 601253 | Creatine phosphokinase, elevated serum; familial hypertrophic cardiomyopathy 1; Rippling muscle disease; Rippling muscle disease 2; long QT syndrome 9 | AD, DiD |
CBL | 165360 | Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
CBS | 613381 | homocystinuria with or without response to pyridoxine | AR |
CC2D1A | 610055 | mental retardation 3 | AR |
CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
CCDC28B | 610162 | Bardet-Biedl syndrome type 1 | AR, DiR |
CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
CCDC78 | 614666 | Myopathy, centronuclear, 4 | AD |
CCDC88C | 611204 | Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 | AD, AR |
CCM2 | 607929 | Cerebral Cavernous Malformations type 2 | AD |
CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
CD320 | 606475 | Methylmalonic aciduria due to transcobalamin receptor defect | |
CD36 | 173510 | Platelet glycoprotein IV deficiency; resistance to malaria | AR |
CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
CD96 | 606037 | C syndrome | AD |
CDH15 | 114019 | autosomal dominant mental retardation, 3 | |
CDK5RAP2 | 608201 | primary microcephaly 3 | AR |
CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
CDON | 608707 | Holoprosencephaly 11 | AD |
CEL | 114840 | MODY type 8 | AD |
CENPF | 600236 | Stromme syndrome | AR |
CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
CEP135 | 611423 | primary microcephaly 8 | AR |
CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
CEP164 | 614848 | nephronophthisis 15 | AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CEP63 | 614724 | Seckel syndrome 6 | AR |
CERS1 | 606919 | Progressive myoclonic epilepsy-8 | AR |
CFL2 | 601443 | nemaline myopathy type 7 | AR |
CHAT | 118490 | Presynaptic congenital myasthenic syndrome type 6 | AR |
CHCHD10 | 615903 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
CHD8 | 610528 | Autism, susceptibility to, 18 | AD |
CHKB | 612395 | Muscular dystrophy, congenital, megaconial type | AR |
CHMP1A | 164010 | pontocerebellar hypoplasia 8 | AR |
CHMP2B | 609512 | Dementia, familial, nonspecific; amyotrophic lateral sclerosis 17 | AD |
CHRM3 | 118494 | Prune belly syndrome | AR |
CHRNA1 | 100690 | Multiple pterygium syndrome, lethal type; Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital | AD, AR |
CHRNA2 | 118502 | Epilepsy, Nocturnal Frontal Lobe, 4 | AD |
CHRNA4 | 118504 | Tobacco Addiction, Susceptibility To; Epilepsy, nocturnal frontal lobe, 1 | AD |
CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNB2 | 118507 | Epilepsy, nocturnal frontal lobe, 3 | |
CHRND | 100720 | Multiple pterygium syndrome, lethal type; slow-channel congenital myasthenic syndrome type 3A; Congenital fast-channel myasthenic syndrome type 3B; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AD, AR |
CHRNE | 100725 | slow-channel congenital myasthenic syndrome type 4A; congenital myasthenic syndrome type 4C, associated with acetylcholine receptor deficiency; fast-channel congenital myasthenic syndrome type 4B | AD, AR |
CHRNG | 100730 | Multiple pterygium syndrome, lethal type; Multiple Pterygium Syndrome, Escobar Variant | AR |
CHST14 | 608429 | Ehlers-Danlos syndrome musculocontractural type 1 | AR |
CHSY1 | 608183 | AR | |
CIB2 | 605564 | deafness type 48; Usher syndrome type 1J | AR |
CILK1 | 612325 | AD, AR | |
CISD2 | 611507 | Wolfram syndrome 2 | AR |
CISH | 602441 | Mycobacterium Tuberculosis, Susceptibility To; resistance to malaria | |
CLCN1 | 118425 | myotonia congenita (Thomsen myotonia); myotonia congenita (Becker myotonia) | AD, AR |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLCN4 | 302910 | MENTAL RETARDATION, X-LINKED 49 | XLD |
CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DiR |
CLCNKB | 602023 | Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic | AR, DiR |
CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
CLIC2 | 300138 | mental retardation 32 | XLR |
CLN3 | 607042 | neuronal ceroid lipofuscinosis type 3 | AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
CNBP | 116955 | Myotonic dystrophy 2 | AD |
CNGB3 | 605080 | Achromatopsia type 3 | AR |
CNNM2 | 607803 | Hypomagnesemia 6, renal; hypomagnesemia, seizures, and mental retardation type 1 | AD, AR |
CNTN1 | 600016 | Myopathy, congenital, Compton-North | AR |
CNTNAP2 | 604569 | Pitt-Hopkins like syndrome 1; Autism susceptibility 15 | AR |
COA5 | 613920 | AR | |
COA8 | 616003 | Mitochondrial complex IV deficiency | AR, M |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
COG4 | 606976 | congenital disorder of glycosylation type 2j; Saul-Wilson syndrome | AD, AR |
COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
COG6 | 606977 | congenital disorder of glycosylation type 2l; Shaheen syndrome | AR |
COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
COG8 | 606979 | congenital disorder of glycosylation type 2h | |
COL11A2 | 120290 | Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 | AD, AR |
COL12A1 | 120320 | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | AD |
COL2A1 | 120140 | Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia | AD |
COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
COL4A2 | 120090 | Brain small vessel disease type 2; Hemorrhage, intracerebral, susceptibility to | AD |
COL6A1 | 120220 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A2 | 120240 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy | AD, AR |
COL6A3 | 120250 | Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27 | AD, AR |
COL7A1 | 120120 | transient bullous dermolysis of the newborn; autosomal dominant epidermolysis bullosa dystrophica; pretibial epidermolysis bullosa dystrophica; epidermiolysis bullosa dystrophica, Bart type; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; nonsyndromic congenital nail disorder type 8 | AD, AR |
COLQ | 603033 | congenital myasthenic syndrome type 5 | AR |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ4 | 612898 | primary coenzyme Q10 deficiency type 7 | AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX10 | 602125 | Mitochondrial complex IV deficiency; Leigh syndrome | AR, M |
COX15 | 603646 | Leigh syndrome; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR, M |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
COX6A1 | 602072 | intermediate type D Charcot-Marie-Tooth | AR |
COX6B1 | 124089 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPA6 | 609562 | Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 | AD, AR |
CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
CPS1 | 608307 | carbamoyl-phosphate synthetase 1 deficiency | AR |
CPT1A | 600528 | hepatic CPT deficiency type IA | AR |
CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
CR1 | 120620 | resistance to malaria | |
CRADD | 603454 | Mental retardation, autosomal recessive 34, with variant lissencephaly | AR |
CRBN | 609262 | mental retardation 2 | AR |
CREBBP | 600140 | Rubinstein-Taybi syndrome 1 | AD |
CRIPT | 604594 | Short stature with microcephaly and distinctive facies | AR |
CRPPA | 614631 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 | AR |
CRYAB | 123590 | Myopathy, myofibrillar, 2; Cataract 16, multiple types; Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related; dilated cardiomyopathy-1II | AD, AR |
CSF1R | 164770 | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | AD, AR |
CSF2RB | 138981 | Surfactant metabolism dysfunction, pulmonary, 5 | AR |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CSRP3 | 600824 | dilated cardiomyopathy-1M; Cardiomyopathy, familial hypertrophic, 12 | AD |
CST3 | 604312 | Cerebral amyloid angiopathy, cst3-related; Macular degeneration, age-related, 11 | AD |
CSTB | 601145 | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | AR |
CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
CTDP1 | 604927 | Congenital cataracts, facial dysmorphism, and neuropathy | AR |
CTNNA3 | 607667 | familial arrhythmogenic right ventricular dysplasia type 13 | AD |
CTNNB1 | 116806 | colorectal cancer; Hepatocellular Carcinoma; Medulloblastoma; Ovarian Cancer; neurodevelopmental disorder with spastic diplegia and visual defects | AD |
CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
CTSA | 613111 | galactosialidosis | AR |
CTSC | 602365 | Papillon-Lefevre syndrome | AR |
CTSD | 116840 | neuronal ceroid lipofuscinosis type 10 | AR |
CTSF | 603539 | neuronal ceroid lipofuscinosis type 13 | AR |
CTSK | 601105 | pycnodysostosis | AR |
CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
CUL4B | 300304 | MENTAL RETARDATION, X-LINKED 15 | XLR |
CUL7 | 609577 | 3-M syndrome | AR |
CWF19L1 | 616120 | autosomal recessive spinocerebellar ataxia 17 | AR |
CYB5R3 | 613213 | methemoglobinemia type I | AR |
CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
CYP11B2 | 124080 | congenita hypoaldosteronism due to CMO I deficiency; congenital hypoaldosteronism due to CMO II deficiency | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
CYP2U1 | 610670 | spastic paraplegia 56 | AR |
CYP7B1 | 603711 | spastic paraplegia 5A | AR |
D2HGDH | 609186 | D-2-Hydroxyglutaric Aciduria 1 | AR |
DAG1 | 128239 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DBT | 248610 | maple syrup urine disease type Ia; maple syrup urine disease type Ib; maple syrup urine disease type II | AR |
DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
DCTN1 | 601143 | amyotrophic lateral sclerosis 1; Perry syndrome; Neuronopathy, Distal Hereditary Motor, Type Viib | AD, AR |
DCX | 300121 | type 1 lissencephaly | XL |
DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
DDHD1 | 614603 | spastic paraplegia 28 | AR |
DDHD2 | 615003 | spastic paraplegia 54 | AR |
DDOST | 602202 | Congenital disorder of glycosylation, type Ir | AR |
DDX3X | 300160 | mental retardation 102 | XLD, XLR |
DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci | AD |
DES | 125660 | Scapuloperoneal syndrome, neurogenic, Kaeser type; Myopathy, myofibrillar, 1; dilated cardiomyopathy-1I | AD, AR |
DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
DHCR24 | 606418 | Desmosterolosis | AR |
DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
DHDDS | 608172 | retinitis pigmentosa type 59; Developmental delay and seizures with or without movement abnormalities | AD, AR |
DHFR | 126060 | AR | |
DHH | 605423 | 46,Xy Sex Reversal 7; 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy | AR |
DHTKD1 | 614984 | 2-aminoadipic 2-oxoadipic aciduria; type 2Q Charcot-Marie-Tooth disease | AD, AR |
DIAPH3 | 614567 | Auditory neuropathy, autosomal dominant, 1 | AD |
DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DLD | 238331 | dihydrolipoamide dehydrogenase deficiency | AR |
DLG3 | 300189 | mental retardation 90 | XLR |
DMD | 300377 | Becker muscular dystrophy; dilated cardiomyopathy type 3B; Duchenne muscular dystrophy | XL, XLR |
DMPK | 605377 | myotonic dystrophy type 1 | AD |
DNA2 | 601810 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 | AD, AR |
DNAH9 | 603330 | AR | |
DNAJB2 | 604139 | autosomal recessive distal spinal muscular atrophy type 5 | AR |
DNAJB6 | 611332 | limb-girdle muscular dystrophy type 1E | AD |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNAJC6 | 608375 | Parkinson disease 19, juvenile-onset | AR |
DNM1 | 602377 | early infantile epileptic encephalopathy, 31 | AD |
DNM1L | 603850 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission | AD, AR |
DNM2 | 602378 | Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5 | AD, AR |
DNMT1 | 126375 | cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE | AD |
DOCK7 | 615730 | early infantile epileptic encephalopathy 23 | AR |
DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
DOK7 | 610285 | congenital myasthenic syndrome type 10 | AR |
DOLK | 610746 | congenital disorder of glycosylation type 1m | AR |
DPAGT1 | 191350 | congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 | AR |
DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
DPM3 | 605951 | congenital disorder of glycosylation, type Io | AR |
DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
DRD3 | 126451 | schizophrenia | AD |
DSC3 | 600271 | hypotrichosis and recurrent skin vesicles | AR |
DST | 113810 | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
DYNC1H1 | 600112 | lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 | AD |
DYNC2H1 | 603297 | short-rib thoracic dysplasia-3 with or without polydactyly | AR, DiR |
DYRK1A | 600855 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | AD |
DYSF | 603009 | limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy type 1; distal myopathy with anterior tibial onset | AR |
EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
EBP | 300205 | MEND syndrome; Chondrodysplasia punctata, X-linked dominant | XLD, XLR |
ECEL1 | 605896 | distal arthrogryposis type 5D | AR |
ECHS1 | 602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
EDN3 | 131242 | congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 | AD, AR |
EDNRB | 131244 | Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome | AD, AR |
EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
EFHC1 | 608815 | Epilepsy, myoclonic juvenile | AD |
EFTUD2 | 603892 | Mandibulofacial dysostosis, Guion-Almeida type | AD |
EGF | 131530 | Hypomagnesemia 4, renal | |
EGR2 | 129010 | Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease | AD, AR |
EHMT1 | 607001 | Kleefstra syndrome | AD |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
EIF4E | 133440 | ||
EIF4G1 | 600495 | PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | AD |
ELOVL4 | 605512 | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation | AD, AR |
ELOVL5 | 611805 | spinocerebellar ataxia 38 | AD |
ELP1 | 603722 | hereditary sensory and autonomic neuropathy type III | AR |
EMD | 300384 | Emery-Dreifuss muscular dystrophy type 1 | XLR |
EMX2 | 600035 | Schizencephaly | |
ENO3 | 131370 | Glycogen storage disease XIII | AR |
ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
ENTPD1 | 601752 | spastic paraplegia 64 | AR |
EP300 | 602700 | colorectal cancer; Rubinstein-Taybi syndrome 2 | AD |
EPB41L1 | 602879 | mental retardation-11 | AD |
EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
ERBB4 | 600543 | Amyotrophic lateral sclerosis 19 | AD |
ERCC1 | 126380 | Cerebrooculofacioskeletal syndrome 4 | AR |
ERCC2 | 126340 | xeroderma pigmentosum complementation group D; photosensitive trichothiodystrophy type 1; cerebrooculofacioskeletal syndrome type 2 | AR |
ERCC5 | 133530 | xeroderma pigmentosum complementation group G; cerebrooculofacioskeletal syndrome type 3 | AR |
ERCC6 | 609413 | Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 | AD, AR |
ERLIN1 | 611604 | spastic paraplegia 62 | AR |
ERLIN2 | 611605 | spastic paraplegia 18 | AR |
ESCO2 | 609353 | Roberts syndrome | AR |
ESRRB | 602167 | deafness type 35 | AR |
ETFA | 608053 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETFDH | 231675 | multiple acyl-CoA dehydrogenase deficiency | AR |
ETHE1 | 608451 | ethylmalonic encephalopathy | AR |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
EXOSC8 | 606019 | AR | |
F2 | 176930 | thrombophilia due to thrombin defect; susceptibility to ischemic stroke; congenital prothrombin deficiency; susceptibility to recurrent pregnancy loss type 2 | AD, AR |
F5 | 612309 | thrombophilia due to activated protein C resistance; factor V deficiency; Budd-Chiari syndrome; susceptibility to ischemic stroke; susceptibility to recurrent pregnancy loss type 1 | AD, AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FADD | 602457 | recurrent infections with encephalopathy, hepatic dysfunction and cardiovasuclar malformations | AR |
FAH | 613871 | tyrosinemia type 1 | AR |
FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
FANCB | 300515 | Fanconi anemia of complementation group B | XLR |
FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14; spastic paraplegia type 77 | AR |
FASTKD2 | 612322 | AR | |
FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration | AD, AR |
FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
FBN2 | 612570 | congenital contractural arachnodactyly; early-onset macular degeneration | AD |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FBXO38 | 608533 | distal hereditary motor neuronopathy type IID | AD |
FBXO7 | 605648 | Parkinson disease 15, autosomal recessive | AR |
FCGR2B | 604590 | systemic lupus erythematosus; resistance to malaria | AD |
FEZF1 | 613301 | AR | |
FGA | 134820 | Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital | AD, AR |
FGD1 | 300546 | Aarskog-Scott syndrome | XLR |
FGD4 | 611104 | type 4H Charcot-Marie-Tooth disease | AR |
FGF10 | 602115 | Lacrimoauriculodentodigital Syndrome; Aplasia of lacrimal and salivary glands | AD |
FGF12 | 601513 | AD | |
FGF14 | 601515 | spinocerebellar ataxia 27 | AD |
FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
FGF8 | 600483 | hypogonadotropic hypogonadism 6 with or without anosmia | AD |
FGFR1 | 136350 | Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome | AD |
FGFR2 | 176943 | Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome | AD |
FGFR3 | 134934 | Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans | AD, AR |
FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
FHL1 | 300163 | Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset | XL, XLD, XLR |
FIG4 | 609390 | Yunis-Varon syndrome; type 4J Charcot-Marie-Tooth disease; amyotrophic lateral sclerosis 11; Polymicrogyria, bilateral temporooccipital | AD, AR |
FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | AR |
FKTN | 607440 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 | AR |
FLNA | 300017 | Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked | XL, XLD, XLR |
FLNC | 102565 | Myopathy, myofibrillar, 5; distal myopathy type 4; Cardiomyopathy, Familial Hypertrophic, 26 | AD |
FLRT3 | 604808 | AD | |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FLVCR2 | 610865 | Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome | AR |
FMR1 | 309550 | fragile X tremor/ataxia syndrome; fragile X mental retardation syndrome; premature ovarian failure type 1 | XL, XLD |
FOLR1 | 136430 | cerebral folate transport deficiency | AR |
FOXC1 | 601090 | Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 | AD |
FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis | AD, AR |
FOXP1 | 605515 | Mental retardation with language impairment and with or without autistic features | AD |
FOXP2 | 605317 | Speech-Language Disorder 1 | AD |
FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
FOXRED1 | 613622 | AR | |
FREM1 | 608944 | Manitoba oculotrichoanal syndrome; Bifid nose with or without anorectal and renal anomalies; Trigonocephaly 2 | AD, AR |
FRMD7 | 300628 | nystagmus 1, congenital, X-linked | XL |
FRRS1L | 604574 | Epileptic encephalopathy, early infantile, 37 | AR |
FSHB | 136530 | AR | |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FTO | 610966 | Growth retardation, developmental delay, facial dysmorphism | AR |
FTSJ1 | 300499 | MENTAL RETARDATION, X-LINKED 9 | XLR |
FUCA1 | 612280 | fucosidosis | AR |
FUS | 137070 | amyotrophic lateral sclerosis 6; Tremor, hereditary essential, 4 | AD |
FXN | 606829 | Friedreich ataxia | AR |
FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
G6PD | 305900 | glucose-6-phosphate dehydrogenase deficiency; resistance to malaria | XLD |
GAA | 606800 | Pompe disease | AR |
GABRA1 | 137160 | Epilepsy, Juvenile Myoclonic, Susceptibility To, 5; early infantile epileptic encephalopathy, 19 | AD |
GABRB3 | 137192 | Epilepsy, Childhood Absence, Susceptibility To, 5 | AD |
GABRD | 137163 | Epilepsy, idiopathic generalized, 10 | AD |
GABRG2 | 137164 | Epilepsy, Childhood Absence, Susceptibility To, 2; Generalized epilepsy with febrile seizures plus type 3 | AD |
GAD1 | 605363 | Cerebral palsy, spastic quadriplegic, 1 | AR |
GALC | 606890 | Krabbe disease | AR |
GALNS | 612222 | mucopolysaccharidosis type IVA | AR |
GALT | 606999 | galactosemia | AR |
GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
GAN | 605379 | giant axonal neuropathy | AR |
GARS1 | 600287 | Neuropathy, distal hereditary motor, type V; type 2D Charcot-Marie-Tooth disease | AD |
GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBA2 | 609471 | spastic paraplegia 46 | AR |
GBE1 | 607839 | storage disease type 4; Polyglucosan body disease, adult form | AR |
GCDH | 608801 | glutaric academia type I | AR |
GCH1 | 600225 | dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B | AD, AR |
GCK | 138079 | MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus | AD, AR |
GCSH | 238330 | glycine encephalopathy | AR |
GDAP1 | 606598 | type 4A Charcot-Marie-Tooth disease; type 2K Charcot-Marie-Tooth disease | AD, AR |
GDI1 | 300104 | mental retardation 41 | XLD |
GDNF | 600837 | pheochromocytoma; congenital central hypoventilation syndrome; Hirschsprung Disease, Susceptibility To, 3 | AD |
GFAP | 137780 | Alexander disease | AD |
GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | 606544 | AR | |
GFPT1 | 138292 | congenital myasthenic syndrome with tubular aggregates type 1 | AR |
GIGYF2 | 612003 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | |
GJA1 | 121014 | Oculodentodigital dysplasia | AD, AR |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJB3 | 603324 | erythrokeratoderma variabilis progressive type 1; nonsyndromic hearing loss; Deafness, autosomal dominant 2B | AD, AR, DiD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GK | 300474 | Glycerol kinase deficiency | XLR |
GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
GLB1 | 611458 | GM1-gangliosidosis; GM1-gangliosidosis type II; GM1-gangliosidosis type III; mucopolysaccharidosis type IVB | AR |
GLDC | 238300 | glycine encephalopathy | AR |
GLE1 | 603371 | Lethal congenital, contracture syndrome 1 | AR |
GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
GLI3 | 165240 | Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome | AD |
GLRA1 | 138491 | Hyperekplexia, hereditary 1, autosomal dominant or recessive | AD, AR |
GLRB | 138492 | Hyperekplexia 2, autosomal recessive | AR |
GLUD1 | 138130 | familial hyperinsulinemic hypoglycemia-6 | AD |
GLUL | 138290 | Glutamine deficiency, congenital | AR |
GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
GNAL | 139312 | dystonia 25 | AD |
GNAO1 | 139311 | early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements | AD |
GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
GNB4 | 610863 | intermediate type F Charcot-Marie-Tooth | AD |
GNE | 603824 | Sialuria; Nonaka myopathy | AD, AR |
GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
GNPTAB | 607840 | mucolipidosis II alpha/beta; mucolipidosis III alpha/beta | AR |
GNPTG | 607838 | mucolipidosis III gamma | AR |
GNRH1 | 152760 | hypogonadotropic hypogonadism 12 with or without anosmia | AR |
GNRHR | 138850 | hypogonadotropic hypogonadism 7 with or without anosmia | AR |
GNS | 607664 | mucopolysaccharidosis type IIID | AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GP1BA | 606672 | Bernard-Soulier syndrome, type A2 (dominant); platelet type von Willebrand disease; Bernard-Soulier syndrome, type C | AD, AR |
GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
GPHN | 603930 | Molybdenum cofactor deficiency, complementation group c | AR |
GPR143 | 300808 | Albinism, Ocular, Type I; Nystagmus 6, congenital, X-linked | XL, XLR |
GPT2 | 138210 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | AR |
GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
GRIA3 | 305915 | syndromic mental retardation, Wu type | XLR |
GRID2 | 602368 | autosomal recessive spinocerebellar ataxia 18 | AR |
GRIK2 | 138244 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 | AR |
GRIN1 | 138249 | mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR |
GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
GRIN2B | 138252 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 | AD |
GRIP1 | 604597 | AR | |
GRM1 | 604473 | autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 | AD, AR |
GRN | 138945 | frontotemporal lobar degeneration with ubiquitin-positive inclusions; neuronal ceroid lipofuscinosis type 11 | AD, AR |
GSN | 137350 | Amyloidosis, finnish type | AD |
GSS | 601002 | Glutathione synthetase deficiency | AR |
GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
GUF1 | 617064 | early infantile epileptic encephalopathy, 40 | AR |
GUSB | 611499 | mucopolysaccharidosis type VII | AR |
GYG1 | 603942 | Glycogen storage disease XV; Polyglucosan body myopathy 2 | AR |
GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
HADHA | 600890 | mitochondrial trifunctional protein deficiency; long-chain 3-hydroxyl-CoA dehydrogenase deficiency | AR |
HADHB | 143450 | mitochondrial trifunctional protein deficiency | AR |
HAMP | 606464 | Hemochromatosis, type 2B | AR |
HBB | 141900 | Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia | AD, AR |
HCCS | 300056 | Microphthalmia, syndromic 7 | XLD |
HCFC1 | 300019 | mental retardation 3 | XLR |
HCN1 | 602780 | early infantile epileptic encephalopathy 24 | AD |
HDAC4 | 605314 | ||
HDAC8 | 300269 | Cornelia de Lange syndrome 5 | XLD |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HERC2 | 605837 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 | AR |
HESX1 | 601802 | Septooptic dysplasia | AD, AR |
HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
HEXB | 606873 | Sandhoff disease | AR |
HFE | 613609 | Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 | AD, AR |
HGSNAT | 610453 | mucopolysaccharidosis type IIIC; retinitis pigmentosa type 73 | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
HINT1 | 601314 | Neuromyotonia and axonal neuropathy, autosomal recessive | AR |
HK1 | 142600 | Hemolytic anemia due to hexokinase deficiency; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies | AD, AR |
HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
HNRNPA1 | 164017 | Amyotrophic lateral sclerosis 20 | AD |
HNRNPDL | 607137 | limb-girdle muscular dystrophy type 1G | AD |
HNRNPU | 602869 | Epileptic encephalopathy, early infantile, 54 | AD |
HOXA1 | 142955 | Bosley-Salih-Alorainy syndrome | |
HOXD10 | 142984 | AD | |
HPCA | 142622 | dystonia 2 | AR |
HPD | 609695 | Tyrosinemia, type III | AD, AR |
HPRT1 | 308000 | Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome | XLR |
HPS1 | 604982 | Hermansky-Pudlak syndrome type 1 | AR |
HPS3 | 606118 | Hermansky-Pudlak syndrome type 3 | AR |
HPS4 | 606682 | Hermansky-Pudlak syndrome type 4 | AR |
HPS5 | 607521 | Hermansky-Pudlak syndrome type 5 | AR |
HPS6 | 607522 | Hermansky-Pudlak syndrome type 6 | AR |
HPSE2 | 613469 | Urofacial syndrome 1 | AR |
HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
HS6ST1 | 604846 | hypogonadotropic hypogonadism 15 with or without anosmia | AD |
HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
HSD17B4 | 601860 | Perrault syndrome type 1; D-bifunctional protein deficiency | AR |
HSPB1 | 602195 | type 2F Charcot-Marie-Tooth disease; Neuropathy, distal hereditary motor, type IIB | AD |
HSPB3 | 604624 | Neuronopathy, distal hereditary motor, type iic | AD |
HSPB8 | 608014 | Neuropathy, distal hereditary motor, type IIA; type 2L Charcot-Marie-Tooth disease | AD |
HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
HTRA1 | 602194 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 | AD, AR |
HTRA2 | 606441 | Parkinson disease 13; 3-methylglutaconic aciduria, type VIII | AR |
HUWE1 | 300697 | syndromic mental retardation, Turner type | XL |
HYAL1 | 607071 | Mucopolysaccharidosis type IX | AR |
HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
IARS2 | 612801 | Cataracts, Growth Hormone Deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia | AR |
IBA57 | 615316 | Multiple mitochondrial dysfunctions syndrome 3 | AR |
ICAM1 | 147840 | resistance to malaria | |
IDS | 300823 | mucopolysaccharidosis type II | XLR |
IDUA | 252800 | mucopolysaccharidosis type IH; mucopolysaccharidosis type 1; mucopolysaccharidosis type IS | AR |
IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
IFT140 | 614620 | Mainzer-Saldino syndrome; retinitis pigmentosa type 80 | AR |
IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
IFT27 | 615870 | Bardet-Biedl syndrome 19 | AR |
IGBP1 | 300139 | mental retardation 28 | XLR |
IGF1 | 147440 | Insulin-Like Growth Factor I Deficiency | AR |
IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
IGHMBP2 | 600502 | distal hereditary motor neuronopathy type VI; type 2S Charcot-Marie-Tooth disease | AR |
IKBKG | 300248 | Incontinentia pigmenti, type II | XLD, XLR |
IL11RA | 600939 | Craniosynostosis and dental anomalies | AR |
IL17RD | 606807 | Hypogonadotropic hypogonadism type 18 with or without anosmia | AD, AR, DiD |
IL1RAPL1 | 300206 | mental retardation 21 | XLR |
IL1RN | 147679 | Gastric Cancer, Hereditary Diffuse; Microvascular complications of diabetes, susceptibility to, 4; Osteomyelitis, sterile multifocal, with periostitis and pustulosis | AD, AR |
INF2 | 610982 | Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth | AD |
INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
INS | 176730 | Diabetes Mellitus, Insulin-Dependent, 2; MODY type 10 | AD, AR |
INVS | 243305 | nephronophthisis 2 | AR |
IQSEC2 | 300522 | MENTAL RETARDATION, X-LINKED 1 | XLD |
IRX5 | 606195 | Hamamy syndrome | AR |
ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome type 4 | AR |
ISCU | 611911 | AR | |
ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
ITGB3 | 173470 | Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to | AD, AR |
ITM2B | 603904 | Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 | AD |
ITPA | 147520 | Epileptic encephalopathy, early infantile, 35 | AR |
ITPR1 | 147265 | spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 | AD, AR |
IVD | 607036 | isovaleric acidemia | AR |
JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
JAM3 | 606871 | Hemorrhagic destruction of the brain, subpendymal calcification, and cataracts | AR |
KANK1 | 607704 | Cerebral palsy, spastic quadriplegic, 2 | |
KARS1 | 601421 | CHARCOT-MARIE-TOOTH, RECESSIVE INTERMEDIATE TYPE B; Deafness, autosomal recessive 89 | AR |
KAT6A | 601408 | mental retardation- 32 | AD |
KAT6B | 605880 | Ohdo syndrome, SBBYS variant; Genitopatellar syndrome | AD |
KATNB1 | 602703 | lissencephaly 6 | AR |
KBTBD13 | 613727 | Nemaline Myopathy 6 | AD |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNA2 | 176262 | Epileptic encephalopathy, early infantile, 32 | AD |
KCNB1 | 600397 | early infantile epileptic encephalopathy 26 | AD |
KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
KCNC3 | 176264 | spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
KCNE3 | 604433 | Brugada syndrome 6 | |
KCNJ1 | 600359 | Bartter syndrome, type 2 | AR |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KCNJ11 | 600937 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; familial hyperinsulinemic hypoglycemia type 2; transient neonatal diabetes mellitus type 3; MODY type 13 | AD, AR |
KCNK18 | 613655 | AD | |
KCNK9 | 605874 | ||
KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
KCNT1 | 608167 | early infantile epileptic encephalopathy 14; nocturnal frontal lobe epilepsy 5 | AD |
KCTD17 | 616386 | Dystonia 26, myoclonic | AD |
KCTD7 | 611725 | progressive myoclonic epilepsy type 3 with or without intracellular inclusions | AR |
KDM5C | 314690 | syndromic mental retardation - Claes-Jensen type | XLR |
KDM6A | 300128 | Kabuki syndrome 2 | XLD |
KIF11 | 148760 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | AD |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF1B | 605995 | type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma | AD |
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF21A | 608283 | Fibrosis Of Extraocular Muscles, Congenital, 1 | AD |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
KIF5C | 604593 | Cortical dysplasia, complex, with other brain malformations 2 | AD |
KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
KIRREL3 | 607761 | ||
KISS1 | 603286 | hypogonadotropic hypogonadism 13 with or without anosmia | AR |
KISS1R | 604161 | Precocious puberty, central, 1; hypogonadotropic hypogonadism 8 with or without anosmia | AD, AR |
KLHL40 | 615340 | Nemaline myopathy 8, autosomal recessive | AR |
KLHL41 | 607701 | Nemaline myopathy 9 | AR |
KMT2A | 159555 | Wiedemann-Steiner syndrome | AD |
KMT2C | 606833 | Kleefstra syndrome type 2 | AD |
KMT2D | 602113 | Kabuki syndrome 1 | AD |
KNL1 | 609173 | primary microcephaly 4 | AR |
KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
KRIT1 | 604214 | Cerebral Cavernous Malformations type 1 | AD |
KRT5 | 148040 | epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1 | AD, AR |
L1CAM | 308840 | spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius | XLR |
L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
LAMB1 | 150240 | lissencephaly 5 | AR |
LAMB2 | 150325 | Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities | AR |
LAMC3 | 604349 | Cortical malformations, occipital | AR |
LAMP2 | 309060 | Danon disease | XLD |
LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
LBR | 600024 | Pelger-Huet anomaly; Greenberg skeletal dysplasia | AD, AR |
LDB3 | 605906 | dilated cardiomyopathy-1C; Myopathy, myofibrillar, 4 | AD |
LDHA | 150000 | Glycogen storage disease XI | AR |
LEP | 164160 | Leptin deficiency | AR |
LEPR | 601007 | Morbid obesity due to leptin receptor deficiency | AR |
LGI1 | 604619 | Epilepsy, familial temporal lobe, 1 | AD |
LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
LIAS | 607031 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | AR |
LIMS2 | 607908 | limb-girdle muscular dystrophy type 2W | AR |
LINS1 | 610350 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | AR |
LIPA | 613497 | Wolman disease / cholesteryl ester storage disease | AR |
LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
LITAF | 603795 | type 1C Charcot-Marie-Tooth disease | AD |
LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
LMNA | 150330 | dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR | AD, AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LMOD3 | 616112 | Nemaline myopathy 10 | AR |
LMX1B | 602575 | Nail-patella syndrome | AD |
LPIN1 | 605518 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
LPIN2 | 605519 | Majeed syndrome | |
LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
LRP2 | 600073 | Donnai-Barrow syndrome | AR |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
LRRK2 | 609007 | Parkinson disease 8 | AD |
LRSAM1 | 610933 | type 2P Charcot-Marie-Tooth disease | AD, AR |
LYRM7 | 615831 | Mitochondrial complex III deficiency nuclear type 8 | AR |
LYST | 606897 | Chediak-Higashi syndrome | AR |
LYZ | 153450 | Amyloidosis, familial visceral | AD |
LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
LZTR1 | 600574 | Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 | AD, AR |
MAG | 159460 | Spastic paraplegia 75, autosomal recessive | AR |
MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
MAGI2 | 606382 | nephrotic syndrome type 15 | AR |
MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
MAMLD1 | 300120 | Hypospadias 2, X-linked | XLR |
MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
MAN2B1 | 609458 | alpha-mannosidosis | AR |
MANBA | 609489 | Mannosidosis, Beta A, Lysosomal | AR |
MAOA | 309850 | Brunner syndrome | XLR |
MAPT | 157140 | Susceptibility to late-onset Parkinson disease; Pick disease; Dementia, frontotemporal | AD, AR |
MARS1 | 156560 | Interstitial lung and liver disease; type 2U Charcot-Marie-Tooth disease | AD, AR |
MARS2 | 609728 | AR | |
MASP1 | 600521 | 3MC syndrome 1 | AR |
MATR3 | 164015 | Myopathy, Distal, 2 | AD |
MBD5 | 611472 | mental retardation-1 | AD |
MBTPS2 | 300294 | IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked | XLR |
MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
MCM4 | 602638 | Natural killer cell and glucocorticoid deficiency with DNA repair defect | AR |
MCOLN1 | 605248 | Mucolipidosis type IV | AR |
MCPH1 | 607117 | primary microcephaly 1 | AR |
MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
MED12 | 300188 | Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome | XLR |
MED13L | 608771 | Mental retardation and distinctive facial features with or without cardiac defects | AD |
MED17 | 603810 | postnatal progressive microcephaly, seizures, and brain atrophy | AR |
MED23 | 605042 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 | AR |
MED25 | 610197 | Basel-Vanagait-Smirin-Yosef syndrome | AR |
MEF2C | 600662 | mental retardation- 20 | AD |
MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | AR |
MEIS2 | 601740 | Cleft palate, cardiac defects, and mental retardation | AD |
MET | 164860 | Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 | AD, AR |
MFN2 | 608507 | hereditary motor and sensory neuropathy type VIA with optic atrophy; axonal Charcot-Marie-Tooth disease type 2A2A; axonal Charcot-Marie-Tooth disease type 2A2B | AD, AR |
MFRP | 606227 | Nanophthalmos 2; isolated microphthalmia 5 | AR |
MFSD2A | 614397 | Microcephaly 15, primary, autosomal recessive | AR |
MFSD8 | 611124 | neuronal ceroid lipofuscinosis type 7; macular dystrophy with central cone involvement | AR |
MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
MGME1 | 615076 | mitochondrial DNA depletion syndrome 11 | AR |
MIB1 | 608677 | Left ventricular noncompaction 7 | AD |
MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
MID1 | 300552 | Opitz GBBB syndrome, X-linked | XLR |
MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MLPH | 606526 | Griscelli syndrome, type 3 | AR |
MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
MMP3 | 185250 | Coronary heart disease, susceptibility to, 6 | |
MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
MOCS1 | 603707 | molybdenum cofactor deficiency of complementation group A | AR |
MOCS2 | 603708 | molybdenum cofactor deficiency of complementation group B | AR |
MOGS | 601336 | congenital disorder of glycosylation type 2b | AR |
MPDU1 | 604041 | congenital disorder of glycosylation type 1f | AR |
MPDZ | 603785 | Hydrocephalus, nonsyndromic, autosomal recessive 2 | AR |
MPI | 154550 | congenital disorder of glycosylation type 1b | AR |
MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
MPZ | 159440 | type 1B Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; type 2I Charcot-Marie-Tooth disease; type 2J Charcot-Marie-Tooth disease | AD, AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
MRPL44 | 611849 | combined oxidative phosphorylation deficiency type 16 | AR |
MRPS22 | 605810 | Combined oxidative phosphorylation deficiency 5 | AR |
MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
MSX1 | 142983 | Tooth Agenesis, Selective, 1; Witkop Syndrome; Orofacial cleft 5 | AD |
MSX2 | 123101 | Parietal foramina 1; Parietal foramina with cleidocranial dysplasia; Craniosynostosis, type 2 | AD |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
MTM1 | 300415 | X-linked myotubular myopathy | XLR |
MTMR14 | 611089 | Myopathy, centronuclear 1 | AD |
MTMR2 | 603557 | type 4B1 Charcot-Marie-Tooth disease | AR |
MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
MTOR | 601231 | Smith-Kingsmore syndrome | AD |
MTPAP | 613669 | AR | |
MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
MTRR | 602568 | Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects | AR |
MTTP | 157147 | Abetalipoproteinemia; protection against metabolic syndrome | AD, AR |
MUSK | 601296 | Fetal akinesia deformation sequence; myasthenic syndrome, congenital type 9, associated with acetylcholine receptor deficiency | AR |
MVK | 251170 | Porokeratosis 3, Disseminated Superficial Actinic Type; Hyper-IgD syndrome; Mevalonic aciduria | AD, AR |
MYBPC1 | 160794 | Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4 | AD, AR |
MYBPC3 | 600958 | familial hypertrophic cardiomyopathy 4; dilated cardiomyopathy-1MM | AD, AR |
MYCN | 164840 | Feingold syndrome | AD |
MYH14 | 608568 | deafness type 4A; Peripheral neuropathy, myopathy, hoarseness, and hearing loss | AD |
MYH2 | 160740 | Inclusion body myopathy 3, autosomal dominant | AD, AR |
MYH3 | 160720 | distal arthrogryposis type 2A; Distal arthrogryposis type 2B3 (Sheldon-Hall) | AD, AR |
MYH7 | 160760 | Liang distal myopathy; Scapuloperoneal syndrome, myopathic type; familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; dilated cardiomyopathy-1S | AD, AR, DiD |
MYH8 | 160741 | distal arthrogryposis type 7; Carney complex variant | AD |
MYH9 | 160775 | Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 | AD |
MYO18B | 607295 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | AR |
MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
MYOT | 604103 | Myopathy, spheroid body; Myopathy, myofibrillar, 3; limb-girdle muscular dystrophy type 1A | AD |
MYPN | 608517 | dilated cardiomyopathy-1KK; Autosomal recessive Nemaline myopathy type 11 | AD, AR |
NAA10 | 300013 | Ogden syndrome; Microphthalmia, syndromic 1 | XL, XLD, XLR |
NAGA | 104170 | Schindler disease, type I, III | AR |
NAGLU | 609701 | mucopolysaccharidosis type IIIB; ? axonal Charcot-Marie-Tooth disease type 2V | AD, AR |
NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
NALCN | 611549 | Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD, AR |
NARS2 | 612803 | Combined oxidative phosphorylation deficiency 24 | AR |
NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
NBN | 602667 | Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia | AR |
NDE1 | 609449 | lissencephaly 4 | AR |
NDP | 300658 | Exudative Vitreoretinopathy 2, X-Linked; Norrie disease | XLD, XLR |
NDRG1 | 605262 | type 4D Charcot-Marie-Tooth disease | AR |
NDST1 | 600853 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 | AR |
NDUFA1 | 300078 | XLR | |
NDUFA10 | 603835 | AR | |
NDUFA11 | 612638 | AR | |
NDUFA12 | 614530 | Mitochondrial complex I deficiency nuclear type 23 | AR |
NDUFA2 | 602137 | AR | |
NDUFA9 | 603834 | AR | |
NDUFAF1 | 606934 | AR | |
NDUFAF2 | 609653 | Mitochondrial complex I deficiency nuclear type 10 | AR |
NDUFAF3 | 612911 | AR | |
NDUFAF4 | 611776 | AR | |
NDUFAF5 | 612360 | AR | |
NDUFAF6 | 612392 | AR | |
NDUFB3 | 603839 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS3 | 603846 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS6 | 603848 | AR | |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFS8 | 602141 | AR | |
NDUFV1 | 161015 | AR | |
NDUFV2 | 600532 | AR | |
NEB | 161650 | nemaline myopathy type 2 | AR |
NECAP1 | 611623 | early infantile epileptic encephalopathy 21 | AR |
NECTIN1 | 600644 | Cleft lip/palate ectodermal dysplasia syndrome | AR |
NEDD4L | 606384 | Periventricular nodular heterotopia 7 | AD |
NEFH | 162230 | amyotrophic lateral sclerosis 1; Charcot-Marie-Tooth disease, axonal, type 2CC | AD, AR |
NEK8 | 609799 | nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 | AR |
NEU1 | 608272 | neuraminidase deficiency | AR |
NEXMIF | 300524 | mental retardation 98 | XLD |
NF1 | 613113 | neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic | AD |
NFIX | 164005 | Marshall-Smith syndrome; Sotos syndrome 2 | AD |
NFU1 | 608100 | Multiple mitochondrial dysfunctions syndrome 1 | AR |
NGF | 162030 | Neuropathy, hereditary sensory and autonomic, type V | AR |
NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
NHLRC1 | 608072 | Epilepsy, progressive myoclonic 2A (Lafora); Epilepsy, progressive myoclonic 2B (Lafora) | AR |
NHS | 300457 | Nance-Horan syndrome | XL, XLD |
NIPA1 | 608145 | spastic paraplegia type 6 | AD |
NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
NKX2-1 | 600635 | Chorea, Benign Hereditary; Thyroid Carcinoma, Papillary; Choreoathetosis, hypothyroidism, and neonatal respiratory distress | AD |
NLGN3 | 300336 | Autism, Susceptibility To, X-Linked 1; Asperger Syndrome, X-Linked, Susceptibility To, 1 | XL |
NLGN4X | 300427 | Autism, Susceptibility To, X-Linked 2; Asperger Syndrome, X-Linked, Susceptibility To, 2 | XL |
NLRP12 | 609648 | Familial cold autoinflammatory syndrome 2 | AD |
NLRP3 | 606416 | Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome | AD |
NOD2 | 605956 | Blau syndrome; Inflammatory Bowel Disease 1 | AD |
NOG | 602991 | proximal symphalangism 1A | AD |
NOP56 | 614154 | spinocerebellar ataxia 36 | AD |
NOS2 | 163730 | resistance to malaria | |
NOS3 | 163729 | Alzheimer Disease; susceptibility to ischemic stroke | AD |
NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
NOTCH3 | 600276 | CADASIL; Lateral meningocele syndrome | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
NR0B1 | 300473 | 46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism | XL, XLR |
NR0B2 | 604630 | OBESITY | AD, AR |
NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
NR3C2 | 600983 | Pseudohypoaldosteronism type I, autosomal dominant | AD |
NRAS | 164790 | colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV | AD |
NRG1 | 142445 | ||
NRXN1 | 600565 | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | AR |
NSD1 | 606681 | Sotos syndrome 1 | AD |
NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
NSMF | 608137 | hypogonadotropic hypogonadism 9 with or without anosmia | AD |
NSUN2 | 610916 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | AR |
NT5C2 | 600417 | spastic paraplegia 45 | AR |
NTRK1 | 191315 | hereditary sensory and autonomic neuropathy type 4 | AR |
NTRK2 | 600456 | Obesity, hyperphagia, and developmental delay; early infantile epileptic encephalopathy type 58 | AD |
NUBPL | 613621 | AR | |
NXF5 | 300319 | ||
OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
OPTN | 602432 | Adult-onset primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; amyotrophic lateral sclerosis 12 | AD |
ORC1 | 601902 | Meier-gorlin syndrome 1 | AR |
OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
PAFAH1B1 | 601545 | lissencephaly type 1 | AD |
PAH | 612349 | phenylketonuria | AR |
PAK3 | 300142 | mental retardation 30 | XLR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PARK7 | 602533 | Parkinson disease 7 | AR |
PAX3 | 606597 | Waardenburg syndrome, type 3; Waardenburg syndrome type 1 | AD, AR |
PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
PC | 608786 | pyruvate carboxylase deficiency | AR |
PCBD1 | 126090 | Hyperphenylalaninemia, BH4-deficient, D | AR |
PCCA | 232000 | propionic acidemia | AR |
PCCB | 232050 | propionic acidemia | AR |
PCDH15 | 605514 | Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 | AR, DiR |
PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
PCNT | 605925 | microcephalic osteodysplastic primordial dwarfism type 2 | AR |
PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
PDCD10 | 609118 | Cerebral cavernous malformations 3 | |
PDE6D | 602676 | Joubert syndrome 22 | AR |
PDE8B | 603390 | Striatal degeneration, autosomal dominant; Pigmented nodular adrenocortical disease, primary, 3 | AD |
PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDK3 | 300906 | type X6 Charcot-Marie-Tooth | XLD |
PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDYN | 131340 | spinocerebellar ataxia 23 | AD |
PET100 | 614770 | Mitochondrial complex IV deficiency | AR, M |
PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PFKM | 610681 | Glycogen storage disease type VII | AR |
PFN1 | 176610 | amyotrophic lateral sclerosis 18 | |
PGAM2 | 612931 | Glycogen storage disease X | AR |
PGAP1 | 611655 | mental retardation 42 | AR |
PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
PGM1 | 171900 | congenital disorder of glycosylation type 1t | AR |
PHC1 | 602978 | primary microcephaly 11 | AR |
PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
PHF8 | 300560 | syndromic mental retardation, Siderius type | XLR |
PHGDH | 606879 | Neu-Laxova syndrome type 1; Phosphoglycerate dehydrogenase deficiency | AR |
PHKA1 | 311870 | Muscle glycogenosis | XLR |
PHOX2B | 603851 | congenital central hypoventilation syndrome | AD |
PHYH | 602026 | Refsum disease | AR |
PIEZO2 | 613629 | Arthrogryposis, distal, type 5; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch | AD, AR |
PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
PIGL | 605947 | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome | AR |
PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome type 1 | AR |
PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
PIK3CA | 171834 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Nevus, Epidermal; Ovarian Cancer; Keratosis, Seborrheic; Lung Cancer; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi; Gastric Cancer; Cowden syndrome 5 | |
PIK3R2 | 603157 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome | AD |
PIK3R5 | 611317 | Ataxia-oculomotor apraxia 3 | AR |
PINK1 | 608309 | Parkinson disease 6 | AR |
PITX2 | 601542 | Axenfeld-Rieger syndrome, type 1 | AD |
PKD2 | 173910 | polycystic kidney disease type 2 | AD |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLCB1 | 607120 | early infantile epileptic encephalopathy 12 | AR |
PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
PLEC | 601282 | epidermolysis bullosa simplex, Ogna type; epidermolysis bullosa simplex with muscular dystrophy; epidermolysis bullosa simplex with pyloric atresia; limb-girdle muscular dystrophy type 2Q | AD, AR |
PLEKHG5 | 611101 | autosomal recessive distal spinal muscular atrophy type 4; recessive intermediate Charcot-Marie-Tooth disease type C | AR |
PLK4 | 605031 | autosomal recessive microcephaly and chorioretinopathy, 2 | AR |
PLN | 172405 | dilated cardiomyopathy-1P; Cardiomyopathy, familial hypertrophic, 18 | AD |
PLOD2 | 601865 | Bruck syndrome 2 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
PMP22 | 601097 | type 1A Charcot-Marie-Tooth disease; Dejerine-Sottas syndrom; Neuropathy, recurrent, with pressure palsies | ?AD, AD, AR |
PNKD | 609023 | dystonia 8 | AD |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPLA2 | 609059 | Neutral lipid storage disease with myopathy | AR |
PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
PNPT1 | 610316 | Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 | AR |
POGZ | 614787 | White-Sutton syndrome | AD |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLG2 | 604983 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
POMC | 176830 | OBESITY; Proopiomelanocortin Deficiency | AD, AR |
POMGNT1 | 606822 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76 | AR |
POMGNT2 | 614828 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 | AR |
POMK | 615247 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12 | AR |
POMT1 | 607423 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1 | AR |
POMT2 | 607439 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2 | AR |
PORCN | 300651 | Focal dermal hypoplasia | XLD |
POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
PPOX | 600923 | variegate porphyria | AD |
PPP2R2B | 604325 | spinocerebellar ataxia 12 | AD |
PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
PQBP1 | 300463 | Renpenning Syndrome 1 | XLR |
PREPL | 609557 | congenital myasthenic syndrome type 22 | AR |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKAG2 | 602743 | Wolff-Parkinson-White syndrome; fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; familial hypertrophic cardiomyopathy 6 | AD |
PRKCG | 176980 | spinocerebellar ataxia 14 | AD |
PRKCH | 605437 | susceptibility to ischemic stroke | |
PRKN | 602544 | Ovarian Cancer; Lung Cancer; Parkinson disease 2 | AR |
PRKRA | 603424 | dystonia 16 | AR |
PRNP | 176640 | Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Kuru, susceptibility to; Insomnia, fatal familial; Huntington disease-like 1; Prion disease with protracted course | AD |
PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
PROK2 | 607002 | hypogonadotropic hypogonadism 4 with or without anosmia | AD |
PROKR2 | 607123 | hypogonadotropic hypogonadism 3 with or without anosmia | AD |
PROM1 | 604365 | Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 | AD, AR |
PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
PRPH | 170710 | amyotrophic lateral sclerosis 1 | AD, AR |
PRPH2 | 179605 | Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 | AD, AR |
PRPS1 | 311850 | Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth | XL, XLR |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
PRRX1 | 167420 | Agnathia-otocephaly complex | AD, AR |
PRSS12 | 606709 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | AR |
PRX | 605725 | Dejerine-Sottas syndrom; type 4F Charcot-Marie-Tooth disease | AD, AR |
PSAP | 176801 | metachromatic leukodystrophy due to SAP-b deficiency; atypical Gaucher disease; Combined SAP deficiency; atypical Krabbe disease | AR |
PSAT1 | 610936 | Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 | AR |
PSEN1 | 104311 | Pick disease; Dementia, frontotemporal; early-onset familial Alzheimer disease-3; dilated cardiomyopathy-1U; Acne inversa, familial, 3 | AD |
PSEN2 | 600759 | Alzheimer disease, type 4; dilated cardiomyopathy-1V | AD |
PSPH | 172480 | Phosphoserine phosphatase deficiency | AR |
PTCH1 | 601309 | Gorlin syndrome; Holoprosencephaly-7 | AD |
PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
PTF1A | 607194 | Pancreatic Agenesis 2 | AR |
PTPN11 | 176876 | LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic | AD |
PTPRC | 151460 | Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive; Hepatitis C Virus, Susceptibility To | AR |
PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
PURA | 600473 | mental retardation- 31 | AD |
PUS1 | 608109 | myopathy, lactic acidosis and sideroblastic anemia type 1 | AR |
PYCR1 | 179035 | autosomal recessive cutis laxa type 2B | AR |
PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
PYGM | 608455 | glycogen storage disease type 5 | AR |
QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
RAB18 | 602207 | Warburg micro syndrome 3 | AR |
RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
RAB39B | 300774 | mental retardation 72 | XLR |
RAB3GAP1 | 602536 | Warburg micro syndrome 1 | AR |
RAB3GAP2 | 609275 | Martsolf syndrome; Warburg micro syndrome 2 | AR |
RAB7A | 602298 | type 2B Charcot-Marie-Tooth disease | AD |
RAD21 | 606462 | Cornelia de Lange syndrome type 4 | AD, AR |
RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | |
RAF1 | 164760 | Noonan syndrome 5; Cardiomyopathy, dilated, 1NN | AD |
RAI1 | 607642 | Smith-Magenis syndrome | AD |
RANBP2 | 601181 | acute infection-induced encephalopathy-3 | AD |
RAPSN | 601592 | congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency | AR |
RARS1 | 107820 | hypomyelinating leukodystrophy-9 | AR |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
RBFOX1 | 605104 | ||
RBM10 | 300080 | TARP syndrome | XLR |
RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
RDH5 | 601617 | Retinitis punctata albescens | AD, AR |
REEP1 | 609139 | spastic paraplegia 31; Neuronopathy, distal hereditary motor, type VB | AD |
REEP2 | 609347 | spastic paraplegia 72 | AD, AR |
RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
RET | 164761 | Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome | AD |
RETREG1 | 613114 | hereditary sensory and autonomic neuropathy type IIB | AR |
RFT1 | 611908 | congenital disorder of glycosylation type 1n | AR |
RHO | 180380 | Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 | AD, AR |
RIMS1 | 606629 | Cone-rod dystrophy 7 | |
RIN2 | 610222 | MACS syndrome | AR |
RLBP1 | 180090 | Retinitis punctata albescens | AD, AR |
RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
RNF135 | 611358 | ||
RNF170 | 614649 | AD | |
ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
RPIA | 180430 | AR | |
RPL10 | 312173 | Autism, susceptibility to, X-linked 5 | XLR |
RPS6KA3 | 300075 | MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome | XLD |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
RTN2 | 603183 | spastic paraplegia 12 | AD |
RUBCN | 613516 | autosomal recessive spinocerebellar ataxia 15 | AR |
RXYLT1 | 605862 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 | AR |
RYR1 | 180901 | central core disease; malignant hyperthermia; minicore myopathy with external ophthalmoplegia | AD, AR |
SACS | 604490 | spastic ataxia of Charlevoix-Saguenay | AR |
SALL1 | 602218 | Townes-Brocks syndrome | AD |
SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
SASS6 | 609321 | autosomal recessive primary microcephaly, 14 | AR |
SATB2 | 608148 | SATB2-associated syndrome (SAS) :Glass syndrome | AD |
SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
SBF1 | 603560 | type 4B3 Charcot-Marie-Tooth disease | AR |
SBF2 | 607697 | type 4B2 Charcot-Marie-Tooth disease | AR |
SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
SCN10A | 604427 | familial episodic pain syndrome, 2 | AD |
SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
SCN1B | 600235 | generalized epilepsy with febrile seizures plus-1; Brugada syndrome 5; Epileptic encephalopathy, early infantile, 52 | AD, AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SCN3A | 182391 | Epilepsy, familial focal, with variable foci 4; early infantile epileptic encephalopathy type 62 | AD |
SCN4A | 603967 | Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive | AD, AR |
SCN5A | 600163 | susceptibility to sudden infant death syndrome; Brugada syndrome 1; dilated cardiomyopathy-1E; long QT syndrome 3; Sick sinus syndrome 1; Familial atrial fibrillation type 10 | AD, AR |
SCN8A | 600702 | Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 | AD |
SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
SCO1 | 603644 | Mitochondrial complex IV deficiency | AR, M |
SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
SDHAF1 | 612848 | mitochondrial complex II deficiency | AR |
SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
SEC23B | 610512 | congenital dyserythropoietic anemia 2; Cowden syndrome 7 | AD, AR |
SELENON | 606210 | Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome | AD, AR |
SEMA3A | 603961 | hypogonadotropic hypogonadism 16 with or without anosmia | AD |
SEPSECS | 613009 | pontocerebellar hypoplasia type 2D | AR |
SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL syndrome). | AR |
SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
SETBP1 | 611060 | Schinzel-giedion midface retraction syndrome; mental retardation type 29 | AD |
SETD2 | 612778 | Luscan-Lumish syndrome | AD |
SETX | 608465 | amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 | AD, AR |
SGCA | 600119 | limb-girdle Muscular dystrophy type 3 | AR |
SGCB | 600900 | limb-girdle muscular dystrophy type 2E | AR |
SGCD | 601411 | limb-girdle muscular dystrophy type 2F; dilated cardiomyopathy-1L | AR |
SGCE | 604149 | myoclonus-dystonia | AD |
SGCG | 608896 | limb-girdle muscular dystrophy type 2C | AR |
SGSH | 605270 | mucopolysaccharidosis type IIIA | AR |
SH3TC2 | 608206 | type 4C Charcot-Marie-Tooth disease; Mononeuropathy of the median nerve, mild | AD, AR |
SHANK2 | 603290 | Autism susceptibility 17 | |
SHH | 600725 | Holoprosencephaly 3; Solitary Median Maxillary Central Incisor; Schizencephaly; Microphthalmia, Isolated, With Coloboma 5 | AD |
SHOC2 | 602775 | Noonan Syndrome-Like Disorder With Loose Anagen Hair | AD |
SHROOM4 | 300579 | Stocco dos Santos X-linked mental retardation syndrome | XL |
SIGMAR1 | 601978 | distal spinal muscular atrophy type 2; amyotrophic lateral sclerosis 16 | AR |
SIK1 | 605705 | Epileptic encephalopathy, early infantile, 30 | AD |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SIX3 | 603714 | Holoprosencephaly 2; Schizencephaly | AD |
SIX6 | 606326 | Microphthalmia with cataract 2 | AR |
SKI | 164780 | Shprintzen-Goldberg Craniosynostosis Syndrome | AD |
SLC12A3 | 600968 | Gitelman syndrome | AR |
SLC12A5 | 606726 | early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 | AD, AR |
SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
SLC13A5 | 608305 | early infantile epileptic encephalopathy 25 | AR |
SLC16A1 | 600682 | Monocarboxylate transporter 1 deficiency | AD, AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC19A3 | 606152 | biotin-thiamine-responsive basal ganglia disease | AR |
SLC1A2 | 600300 | early infantile epileptic encephalopathy type 41 | AD |
SLC1A3 | 600111 | episodic ataxia type 6 | AD |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC22A5 | 603377 | systemic primary carnitine deficiency | AR |
SLC25A1 | 190315 | Combined D-2- and L-2-hydroxyglutaric aciduria | AR |
SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
SLC25A19 | 606521 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
SLC25A22 | 609302 | early infantile epileptic encephalopathy 3 | AR |
SLC25A3 | 600370 | ||
SLC25A4 | 103220 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2; mitochondrial DNA depletion syndrome 12; mitochondrial DNA depletion syndrome type 12A | AD, AR |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
SLC27A4 | 604194 | Ichthyosis prematurity syndrome | |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC2A10 | 606145 | arterial tortuosity syndrome | AR |
SLC30A10 | 611146 | Hypermanganesemia with dystonia, polycythemia, and cirrhosis | AR |
SLC33A1 | 603690 | spastic paraplegia 42; Congenital cataracts, hearing loss, and neurodegeneration | AD, AR |
SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
SLC3A1 | 104614 | cystinuria | AD, AR |
SLC4A1 | 109270 | Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 | AD, AR |
SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC5A7 | 608761 | Neuronopathy, distal hereditary motor, type VIIA; Myasthenic syndrome, congenital, 20, presynaptic | AD, AR |
SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
SLC6A3 | 126455 | Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile | AR |
SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
SLC6A9 | 601019 | Glycine encephalopathy with normal serum glycine | AR |
SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SLC9A9 | 608396 | susceptibility to autism type 16 | |
SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
SMARCA2 | 600014 | Nicolaides-Baraitser syndrome | AD |
SMARCA4 | 603254 | Rhabdoid tumor predisposition syndrome 2; mental retardation-16 | AD |
SMARCB1 | 601607 | Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 | AD |
SMARCE1 | 603111 | Meningioma, familial, susceptibility to | AD |
SMC1A | 300040 | Cornelia de Lange syndrome 2 | XLD |
SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
SMCHD1 | 614982 | Fascioscapulohumeral muscular dystrophy 2, digenic | AD |
SMN1 | 600354 | spinal muscular atrophy type 1; spinal muscular atrophy type 3; spinal muscular atrophy type 2; spinal muscular atrophy type 4 | AR |
SMN2 | 601627 | spinal muscular atrophy type 3 | AR |
SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
SMS | 300105 | Snyder-Robinson mental retardation syndrome | XLR |
SNAI2 | 602150 | Piebaldism; Waardenburg syndrome type 2d | AD, AR |
SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
SNCA | 163890 | Lewy body dementia; Parkinson disease 1 | AD |
SNCB | 602569 | Lewy body dementia | AD |
SNIP1 | 608241 | AR | |
SNTA1 | 601017 | long QT syndrome 12 | AD |
SOBP | 613667 | AR | |
SOD1 | 147450 | amyotrophic lateral sclerosis 1 | AD, AR |
SORL1 | 602005 | ||
SOS1 | 182530 | Noonan syndrome 4 | AD |
SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
SOX3 | 313430 | Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked | XL |
SPART | 607111 | spastic paraplegia 20 | AR |
SPAST | 604277 | spastic paraplegia-4 | AD |
SPEG | 615950 | centronuclear myopathy type 5 | AR |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG21 | 608181 | spastic paraplegia type 21 | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
SPTAN1 | 182810 | Epileptic encephalopathy, early infantile, 5 | AD |
SPTBN2 | 604985 | spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 | AD, AR |
SPTLC1 | 605712 | Neuropathy, hereditary sensory and autonomic, type IA | AD |
SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type ic | AD |
SQSTM1 | 601530 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | AD, AR |
SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
SSR4 | 300090 | congenital disorder of glycosylation type 1y | XLR |
ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
STAMBP | 606247 | Microcephaly-capillary malformation syndrome | AR |
STAT1 | 600555 | Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant | AD, AR |
STIL | 181590 | primary microcephaly 7 | AR |
STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
STRADA | 608626 | Polyhydramnios, megalencephaly and symptomatic epilepsy | AR |
STT3A | 601134 | congenital disorder of glycosylation type 1w | AR |
STT3B | 608605 | Congenital disorder of glycosylation, type Ix | AR |
STUB1 | 607207 | autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 | AD, AR |
STX1B | 601485 | generalized epilepsy with febrile seizures plus-9 | AD |
STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
SUCLA2 | 603921 | mitochondrial DNA depletion syndrome 5 | AR |
SUCLG1 | 611224 | mitochondrial DNA depletion syndrome 9 | AR |
SUMF1 | 607939 | multiple sulfatase deficiency | AR |
SUOX | 606887 | Sulfite oxidase deficiency | AR |
SURF1 | 185620 | Leigh syndrome | AR, M |
SYN1 | 313440 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
SYNE2 | 608442 | Emery-Dreifuss muscular dystrophy 5 | AD |
SYNGAP1 | 603384 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | AD |
SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
SYP | 313475 | mental retardation 96 | XLR |
SZT2 | 615463 | Epileptic encephalopathy, early infantile, 18 | AR |
TAC3 | 162330 | hypogonadotropic hypogonadism 10 with or without anosmia | AR |
TACO1 | 612958 | Mitochondrial complex IV deficiency | AR, M |
TACR3 | 162332 | hypogonadotropic hypogonadism 11 with or without anosmia | AR |
TAF1 | 313650 | syndromic X-linked mental retardation, 33; dystonia 3 | XLR |
TAF2 | 604912 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | AR |
TAF6 | 602955 | Alazami-Yuan syndrome | AR |
TARDBP | 605078 | amyotrophic lateral sclerosis 10 | AD |
TAS2R38 | 607751 | AD | |
TAZ | 300394 | Barth syndrome | XLR |
TBC1D20 | 611663 | Warburg micro syndrome 4 | AR |
TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
TBK1 | 604834 | Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | AD |
TBL1XR1 | 608628 | Pierpont syndrome; Mental retardation, autosomal dominant 41 | AD |
TBP | 600075 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 | AD |
TBX1 | 602054 | Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations | AD |
TCAP | 604488 | limb-girdle muscular dystrophy type 2G; cardiomyopathy, familial hypertrophic, 25 | AD, AR |
TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
TCTN1 | 609863 | Joubert syndrome 13 | AR |
TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
TECPR2 | 615000 | spastic paraplegia type 49 | AR |
TECR | 610057 | mental retardation 14 | AR |
TECTA | 602574 | Deafness, autosomal dominant 8/12; deafness type 21 | AD, AR |
TFAP2A | 107580 | Branchiooculofacial syndrome | AD |
TFAP2B | 601601 | Char syndrome; Patent ductus arteriosus 2 | AD |
TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type; spastic paraplegia 57 | AD, AR |
TFR2 | 604720 | hemochromatosis type 3 | AR |
TG | 188450 | Thyroid dyshormonogenesis 3 | AR |
TGFB1 | 190180 | Camurati-Engelmann disease; cystic fibrosis | AD, AR |
TGFB2 | 190220 | Loeys-Dietz syndrome 4 | AD |
TGFB3 | 190230 | Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 | AD |
TGFBR1 | 190181 | Multiple Self-Healing Squamous Epithelioma, Susceptibility To; Loeys-Dietz syndrome 1 | AD |
TGFBR2 | 190182 | Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 | AD |
TGIF1 | 602630 | Holoprosencephaly-4 | AD |
TGM6 | 613900 | spinocerebellar ataxia 35 | AD |
TH | 191290 | Segawa syndrome | AR |
THAP1 | 609520 | dystonia 6 | AD |
THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
TICAM1 | 607601 | AD, AR | |
TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
TIRAP | 606252 | Mycobacterium Tuberculosis, Susceptibility To; resistance to malaria | |
TK2 | 188250 | mitochondrial DNA depletion syndrome 2 | AR |
TLR3 | 603029 | Human Immunodeficiency Virus Type 1, Susceptibility To; Herpes simplex encephalitis, susceptibility to, 2 | AD, AR |
TLR5 | 603031 | ||
TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
TMEM126A | 612988 | Optic Atrophy 7 | AR |
TMEM138 | 614459 | Joubert syndrome 16 | AR |
TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
TMEM230 | 617019 | ||
TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | spinocerebellar ataxia 21 | AD |
TMEM43 | 612048 | arrhythmogenic right ventricular dysplasia 5 | AD |
TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
TMLHE | 300777 | susceptibility to autism type 6 | XLR |
TNF | 191160 | resistance to malaria | AD |
TNFSF4 | 603594 | Myocardial infarction, decreased susceptibility to | |
TNNI2 | 191043 | distal arthrogryposis type 2B | AD |
TNNT1 | 191041 | Nemaline myopathy 5, Amish type | AR |
TNNT3 | 600692 | AD | |
TNPO3 | 610032 | limb-girdle muscular dystrophy type 1F | AD |
TOR1A | 605204 | dystonia 1 | AD |
TP63 | 603273 | ADULT syndrome; Hay-Wells syndrome; Rapp-Hodgkin syndrome; Limb-mammary syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Split-hand/foot malformation 4 | AD |
TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
TPM2 | 190990 | Nemaline myopathy type 4, autosomal dominant | AD |
TPM3 | 191030 | Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy 1, autosomal dominant or recessive | AD, AR |
TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TRAF3 | 601896 | ||
TRAPPC11 | 614138 | limb-girdle muscular dystrophy type 2S | AR |
TRAPPC9 | 611966 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | AR |
TREM2 | 605086 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 2 | AD |
TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
TRIM2 | 614141 | type 2R Charcot-Marie-Tooth disease | AR |
TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
TRMT10A | 616013 | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
TRMU | 610230 | Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient | AR, M |
TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
TRPM7 | 605692 | AD | |
TRPS1 | 604386 | trichorhinophalangeal syndrome 1 | AD |
TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
TSC1 | 605284 | tuberous sclerosis type 1 | AD |
TSC2 | 191092 | tuberous sclerosis-2 | AD |
TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 | AR |
TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
TSHB | 188540 | Hypothryoidism, congenital, nongoitrous 4 | AR |
TSHR | 603372 | Hypothyroidism, congenital, nongoitrous, 1 | AD, AR |
TSPAN7 | 300096 | mental retardation 58 | XLR |
TTBK2 | 611695 | spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
TTC8 | 608132 | retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 | AR |
TTI2 | 614426 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | AR |
TTN | 188840 | Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 | AD, AR |
TTPA | 600415 | ataxia with vitamin E deficiency | AR |
TTR | 176300 | familial transthyretin amyloidosis | AD |
TUBA1A | 602529 | lissencephaly 3 | AD |
TUBA4A | 191110 | amyotrophic lateral sclerosis 22 | AD |
TUBA8 | 605742 | Polymicrogyria with optic nerve hypoplasia | AR |
TUBB2B | 612850 | Polymicrogyria, symmetric or asymmetric | AD |
TUBB3 | 602661 | Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations | AD |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TUBGCP4 | 609610 | AR | |
TUBGCP6 | 610053 | Microcephaly and chorioretinopathy with or without mental retardation | AR |
TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
TWIST1 | 601622 | Saethre-Chotzen Syndrome; Craniosynostosis 1; Robinow-Sorauf syndrome | AD |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
TYMP | 131222 | mitochondrial DNA depletion syndrome 1 | AR |
TYR | 606933 | Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB | AD, AR |
TYROBP | 604142 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy type 1 | AR |
UBA1 | 314370 | X-linked infantile spinal muscular atrophy type 2 | XLR |
UBA5 | 610552 | early infantile epileptic encephalopathy, 44 | AR |
UBE2A | 312180 | syndromic mental retardation, Nascimento type | XLR |
UBE3A | 601623 | Angelman syndrome | AD |
UBQLN2 | 300264 | amyotrophic lateral sclerosis 15 | XLD |
UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
UCHL1 | 191342 | Parkinson disease 5, autosomal dominant; autosomal recessive spastic paraplegia type 79 | AD, AR |
UMPS | 613891 | Orotic aciduria | AR |
UPB1 | 606673 | Beta-ureidopropionase deficiency | AR |
UPF3B | 300298 | mental retardation 14 | XLR |
UQCRB | 191330 | Mitochondrial complex III deficiency, nuclear type 3 | AR |
UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
USH2A | 608400 | Usher syndrome type 2A; retinitis pigmentosa type 39 | AR |
USP8 | 603158 | Pituitary adenoma, ACTH-secreting; Pituitary adenoma 4, ACTH-secreting, somatic | |
USP9X | 300072 | mental retardation 99 | XLD, XLR |
VAMP1 | 185880 | Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 | AD, AR |
VANGL1 | 610132 | Neural tube defects; Caudal regression syndrome/Sacral defect with anterior meningocele | AD |
VAPB | 605704 | Finkel type late-onset spinal muscular atrophy; amyotrophic lateral sclerosis 8 | AD |
VCP | 601023 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; amyotrophic lateral sclerosis 14; Charcot-Marie-Tooth disease type 2Y | AD |
VDR | 601769 | vitamin D-dependent rickets type 2A | AR |
VEGFA | 192240 | Microvascular complications of diabetes 1 | |
VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
VLDLR | 192977 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
VPS13A | 605978 | Choreoacanthocytosis | AR |
VPS13B | 607817 | Cohen syndrome | AR |
VPS35 | 601501 | Parkinson disease 17 | AD |
VPS37A | 609927 | spastic paraplegia 53 | AR |
VPS53 | 615850 | pontocerebellar hypoplasia type 2E | AR |
VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
WAC | 615049 | Desanto-Shinawi syndrome | AD |
WASHC5 | 610657 | Ritscher-Schinzel syndrome; spastic paraplegia 8 | AD, AR |
WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
WDR11 | 606417 | hypogonadotropic hypogonadism 14 with or without anosmia | AD |
WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
WDR62 | 613583 | primary microcephaly 2 | AR |
WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC | AD, AR |
WNT1 | 164820 | osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis | AR |
WNT10A | 606268 | Tooth agenesis, selective, 4; Schopf-Schulz-Passarge syndrome; Odontoonychodermal dysplasia | AD, AR |
WNT3 | 165330 | Tetra-amelia, autosomal recessive | AR |
WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
WNT7A | 601570 | Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency | AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
XBP1 | 194355 | ||
XK | 314850 | Mcleod syndrome | XL |
YAP1 | 606608 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | AD |
YARS1 | 603623 | intermediate type C Charcot-Marie-Tooth | AD |
YWHAE | 605066 | ||
ZBTB16 | 176797 | AR | |
ZBTB18 | 608433 | mental retardation- 22 | AD |
ZDHHC9 | 300646 | syndromic mental retardation, ZDHHC9-related | XL |
ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
ZFYVE27 | 610243 | spastic paraplegia 33 | AD |
ZIC2 | 603073 | Holoprosencephaly 5 | AD |
ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
ZNF335 | 610827 | primary microcephaly 10 | AR |
ZNF41 | 314995 | ||
ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
ZNF711 | 314990 | mental retardation 97 | XL |
ZNF81 | 314998 |
Treatment of generalized epilepsy with febrile seizures includes management of febrile status and short-term use of antiepileptic drugs (AED). Long-term AED treatment is rarely indicated 1.
CENTOGENE offers sequencing and deletion/duplication analysis for genes in the Epilepsy (generalized) with febrile seizures panel (GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A). We also offer single gene tests for each gene included in the panel.
Differential diagnosis
The differential diagnosis of autosomal recessive forms of Epilepsy (generalized) with febrile seizures-related disorders – depending on the major symptoms in the initial case – includes the following diseases:
- Generalized tonic-clonic seizures juvenile absence epilepsy
- Juvenile myoclonic epilepsy
- Acute disseminated encephalomyelitis
- Basilar artery thrombosis
- Meningococcal or neonatal meningitis
- Viral encephalitis or meningitis.
Testing strategy
CENTOGENE offers an advanced, fast and cost-effective strategy to test large NGS panels and diagnose complex phenotypes based on PCR-free whole genome sequencing and NGS technology. This approach offers an unparalleled advantage by reducing amplification/capture biases and providing sequencing of the entire gene with more uniform coverage.
To confirm/establish the diagnosis, CENTOGENE offers the following testing strategy for generalized epilepsy with febrile seizures using NGS Panel Genomic targeted towards this specific phenotype:
Step 1: Whole genome sequencing from a single filter card. The sequencing covers the entire gene (coding region, exon/intron boundaries, intronic and promoter) for all the genes included in the eneralized epilepsy with febrile seizures panel. Copy Number Variants analysis derived from NGS data is also included.
Step 2: If no mutation is identified after analysis of the generalized epilepsy with febrile seizures panel, we further recommend continuing the bioinformatics analysis of the data using whole genome sequencing to cover those genes which are either implicated in an overlapping phenotype or could be involved in a similar pathway but are not strongly clinically implicated based on the current information in literature.
Referral reasons
The following individuals are candidates for generalized epilepsy with febrile seizures gene testing:
- Individuals with a family history of generalized epilepsy with febrile seizures and presentation of the most common symptoms
- Individuals without a positive family history, but with symptoms resembling generalized epilepsy with febrile seizures
- Individuals with a negative but suspected family history, in order to perform proper genetic counseling (prenatal analyses are recommended in families with affected individuals).
Test utility
Sequencing, deletion/duplication of generalized epilepsy with febrile seizures related genes should be performed in all individuals suspected of having this condition. In parallel, other genes reported to be related with generalized epilepsy with febrile seizures should also be analyzed for the presence of mutations, due to the overlap in many clinical features caused by those particular genes.
Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of generalized epilepsy with febrile seizures, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.