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Ген
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Описание заболевания в базе данных OMIM и тип наследования
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Описание заболевания в библиотеке Gene Review
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AAAS | Achalasia-addisonianism-alacrimia syndrome (AR) | |
AARS | |
AARS1 | Developmental and epileptic encephalopathy 29 (AR) Trichothiodystrophy 8, nonphotosensitive (AR) Charcot-Marie-Tooth disease, axonal, type 2N (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
AARS2 | Leukoencephalopathy, progressive, with ovarian failure (AR) Combined oxidative phosphorylation deficiency 8 (AR) | |
ABAT | GABA-transaminase deficiency (AR) | |
ABCA12 | Ichthyosis, congenital, autosomal recessive 4B (harlequin) (AR) Ichthyosis, congenital, autosomal recessive 4A (AR) | Autosomal Recessive Congenital Ichthyosis |
ABCA3 | Surfactant metabolism dysfunction, pulmonary, 3 (AR) | |
ABCA4 | Retinal dystrophy, early-onset severe (AR) Retinitis pigmentosa 19 (AR) Fundus flavimaculatus (AR) Stargardt disease 1 (AR) | Nonsyndromic Retinitis Pigmentosa Overview |
ABCB11 | Cholestasis, benign recurrent intrahepatic, 2 (AR) Cholestasis, progressive familial intrahepatic 2 (AR) | |
ABCB4 | Gallbladder disease 1 (AR) Cholestasis, intrahepatic, of pregnancy, 3 (AR) Cholestasis, progressive familial intrahepatic 3 (AR) | |
ABCB7 | Anemia, sideroblastic, with ataxia (XLR) | |
ABCC6 | Pseudoxanthoma elasticum (AR) Arterial calcification, generalized, of infancy, 2 (AR) | Pseudoxanthoma Elasticum Generalized Arterial Calcification of Infancy |
ABCC8 | Diabetes mellitus, permanent neonatal 3, with or without neurologic features (AR) Hyperinsulinemic hypoglycemia, familial, 1 (AR) Diabetes mellitus, permanent neonatal 3, with or without neurologic features (AD) Diabetes mellitus, noninsulin-dependent (AD) Hypoglycemia of infancy, leucine-sensitive (AD) Hyperinsulinemic hypoglycemia, familial, 1 (AD) | Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
ABCC9 | Cardiomyopathy, dilated, 1O (AD) Hypertrichotic osteochondrodysplasia (Cantu syndrome) (AD) | Brugada Syndrome Cantú syndrome |
ABCD1 | Adrenoleukodystrophy (XLR) Adrenomyeloneuropathy, adult (XLR) | X-Linked Adrenoleukodystrophy |
ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type (AR) | Disorders of Intracellular Cobalamin Metabolism |
ABCG5 | Sitosterolemia 2 (AR) | Sitosterolemia |
ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
ABHD5 | Chanarin-Dorfman syndrome (AR) | |
ACACA | Acetyl-CoA carboxylase deficiency (AR) | |
ACAD8 | Isobutyryl-CoA dehydrogenase deficiency (AR) | |
ACAD9 | Mitochondrial complex I deficiency, nuclear type 20 (AR) | |
ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency of (AR) | Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of (AR) | Short-Chain Acyl-CoA Dehydrogenase Deficiency |
ACADVL | VLCAD deficiency (AR) | Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
ACAN | Spondyloepimetaphyseal dysplasia, aggrecan type (AR) Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD) | |
ACAT1 | Alpha-methylacetoacetic aciduria (AR) | |
ACE | Renal tubular dysgenesis (AR) | |
ACO2 | Infantile cerebellar-retinal degeneration (AR) | |
ACOX1 | Peroxisomal acyl-CoA oxidase deficiency (AR) Mitchell syndrome (AD) | |
ACP5 | Spondyloenchondrodysplasia with immune dysregulation (AR) | |
ACSF3 | |
ACSL4 | Intellectual developmental disorder, X-linked 63 (XLD) | |
ACTA1 | Nemaline myopathy 3, autosomal dominant or recessive (AD) Myopathy, actin, congenital, with excess of thin myofilaments (AD) Myopathy, actin, congenital, with cores (AD) Myopathy, congenital, with fiber-type disproportion 1 (AD) Nemaline myopathy 3, autosomal dominant or recessive (AR) Myopathy, actin, congenital, with excess of thin myofilaments (AR) Myopathy, actin, congenital, with cores (AR) Myopathy, congenital, with fiber-type disproportion 1 (AR) | |
ACTB | Baraitser-Winter syndrome 1 (AD) | Baraitser-Winter Cerebrofrontofacial Syndrome |
ACTG1 | Deafness, autosomal dominant 20/26 (AD) Baraitser-Winter syndrome 2 (AD) | Hereditary Hearing Loss and Deafness Overview Baraitser-Winter Cerebrofrontofacial Syndrome |
ACTG2 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (AD) Visceral myopathy 1 (AD) | ACTG2 Visceral Myopathy |
ACTL6B | Developmental and epileptic encephalopathy 76 (AR) Intellectual developmental disorder with severe speech and ambulation defects (AD) | |
ACTN1 | Bleeding disorder, platelet-type, 15 (AD) | |
ACTN4 | Glomerulosclerosis, focal segmental, 1 (AD) | |
ACVR1 | Fibrodysplasia ossificans progressiva (AD) | Fibrodysplasia Ossificans Progressiva |
ACVR2B | |
ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 (AD) | Hereditary Hemorrhagic Telangiectasia Heritable Pulmonary Arterial Hypertension Overview |
ACY1 | Aminoacylase 1 deficiency (AR) | |
ADA | Adenosine deaminase deficiency, partial (AR) Severe combined immunodeficiency due to ADA deficiency (AR) | Adenosine Deaminase Deficiency |
ADAM17 | |
ADAM22 | Developmental and epileptic encephalopathy 61 (AR) | |
ADAMTS13 | Thrombotic thrombocytopenic purpura, hereditary (AR) | |
ADAMTS19 | |
ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type (AR) | |
ADAMTSL2 | Geleophysic dysplasia 1 (AR) | Geleophysic Dysplasia |
ADAR | Dyschromatosis symmetrica hereditaria (AD) Aicardi-Goutieres syndrome 6 (AR) | Aicardi-Goutieres Syndrome |
ADARB1 | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (AR) | |
ADAT3 | Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (AR) | |
ADCY5 | Dyskinesia with orofacial involvement, autosomal dominant (AD) | ADCY5 Dyskinesia |
ADGRG1 | Polymicrogyria, bilateral frontoparietal (AR) | |
ADGRG6 | Lethal congenital contracture syndrome 9 (AR) | |
ADGRV1 | Usher syndrome, type 2C (AR) Usher syndrome, type 2C, GPR98/PDZD7 digenic (AR) | Usher Syndrome Type II |
ADK | Hypermethioninemia due to adenosine kinase deficiency (AR) | |
ADNP | Helsmoortel-van der Aa syndrome (AD) | ADNP-Related Disorder |
ADPRHL2 | |
ADSL | Adenylosuccinase deficiency (AR) | |
AFF2 | Intellectual developmental disorder, X-linked 109 (XLR) | |
AFG3L2 | Spastic ataxia 5, autosomal recessive (AR) Optic atrophy 12 (AD) Spinocerebellar ataxia 28 (AD) | Spinocerebellar Ataxia Type 28 |
AGA | Aspartylglucosaminuria (AR) | |
AGK | Cataract 38, autosomal recessive (AR) Sengers syndrome (AR) | |
AGL | Glycogen storage disease IIIa (AR) Glycogen storage disease IIIb (AR) | Glycogen Storage Disease Type III |
AGPAT2 | Lipodystrophy, congenital generalized, type 1 (AR) | Berardinelli-Seip Congenital Lipodystrophy |
AGPS | Rhizomelic chondrodysplasia punctata, type 3 (AR) | |
AGR2 | |
AGRN | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects (AR) | Congenital Myasthenic Syndromes Overview |
AGT | Renal tubular dysgenesis (AR) | |
AGTPBP1 | Neurodegeneration, childhood-onset, with cerebellar atrophy (AR) | |
AGTR1 | Renal tubular dysgenesis (AR) | |
AGXT | Hyperoxaluria, primary, type 1 (AR) | Primary Hyperoxaluria Type 1 |
AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AR) | |
AHDC1 | Xia-Gibbs syndrome (AD) | Xia-Gibbs Syndrome |
AHI1 | Joubert syndrome 3 (AR) | Joubert Syndrome |
AIFM1 | Combined oxidative phosphorylation deficiency 6 (XLR) Cowchock syndrome (XLR) Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (XLR) Deafness, X-linked 5 (XLR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
AIMP1 | Leukodystrophy, hypomyelinating, 3 (AR) | |
AIPL1 | Leber congenital amaurosis 4 (AR) Retinitis pigmentosa, juvenile (AR) Cone-rod dystrophy (AR) | Nonsyndromic Retinitis Pigmentosa Overview |
AIRE | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (AR) Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (AD) | |
AK2 | Reticular dysgenesis (AR) | |
AKR1D1 | Bile acid synthesis defect, congenital, 2 (AR) | |
AKT2 | Diabetes mellitus, type II (AD) Hypoinsulinemic hypoglycemia with hemihypertrophy (AD) | |
AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AD) | MPPH Syndrome |
ALAD | Porphyria, acute hepatic (AR) | |
ALAS2 | Anemia, sideroblastic, 1 (XLR) Protoporphyria, erythropoietic, X-linked (XLR) | X-Linked Protoporphyria |
ALB | Analbuminemia (AR) [Dysalbuminemic hyperthyroxinemia] (AR) | |
ALDH18A1 | Cutis laxa, autosomal recessive, type IIIA (AR) Spastic paraplegia 9B, autosomal recessive (AR) Spastic paraplegia 9A, autosomal dominant (AD) Cutis laxa, autosomal dominant 3 (AD) | |
ALDH1A3 | Microphthalmia, isolated 8 (AR) | |
ALDH3A2 | Sjogren-Larsson syndrome (AR) | |
ALDH4A1 | Hyperprolinemia, type II (AR) | |
ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency (AR) | Succinic Semialdehyde Dehydrogenase Deficiency |
ALDH6A1 | Methylmalonate semialdehyde dehydrogenase deficiency (AR) | |
ALDH7A1 | Epilepsy, pyridoxine-dependent (AR) | Pyridoxine-Dependent Epilepsy - ALDH7A1 |
ALDOA | Glycogen storage disease XII (AR) | |
ALDOB | Fructose intolerance, hereditary (AR) | Hereditary Fructose Intolerance |
ALG1 | Congenital disorder of glycosylation, type Ik (AR) | |
ALG11 | Congenital disorder of glycosylation, type Ip (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG12 | Congenital disorder of glycosylation, type Ig (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG13 | Developmental and epileptic encephalopathy 36 (XLD) Developmental and epileptic encephalopathy 36 (XLR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG14 | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (AR) Myopathy, epilepsy, and progressive cerebral atrophy (AR) | Congenital Myasthenic Syndromes Overview |
ALG2 | Myasthenic syndrome, congenital, 14, with tubular aggregates (AR) | Congenital Myasthenic Syndromes Overview Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG3 | Congenital disorder of glycosylation, type Id (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG6 | Congenital disorder of glycosylation, type Ic (AR) | |
ALG8 | Congenital disorder of glycosylation, type Ih (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALG9 | Gillessen-Kaesbach-Nishimura syndrome (AR) Congenital disorder of glycosylation, type Il (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ALMS1 | Alstrom syndrome (AR) | Alstrom Syndrome |
ALOX12B | Ichthyosis, congenital, autosomal recessive 2 (AR) | Autosomal Recessive Congenital Ichthyosis |
ALOXE3 | Ichthyosis, congenital, autosomal recessive 3 (AR) | Autosomal Recessive Congenital Ichthyosis |
ALPL | Odontohypophosphatasia (AR) Hypophosphatasia, infantile (AR) Hypophosphatasia, childhood (AR) Hypophosphatasia, adult (AR) | Hypophosphatasia |
ALS2 | Primary lateral sclerosis, juvenile (AR) Spastic paralysis, infantile onset ascending (AR) Amyotrophic lateral sclerosis 2, juvenile (AR) | ALS2-Related Disorder |
ALX3 | Frontonasal dysplasia 1 (AR) | |
ALX4 | Parietal foramina 2 (AD) Frontonasal dysplasia 2 (AR) | Enlarged Parietal Foramina |
AMACR | Alpha-methylacyl-CoA racemase deficiency (AR) Bile acid synthesis defect, congenital, 4 (AR) | |
AMELX | Amelogenesis imperfecta, type 1E (XLD) | |
AMER1 | Osteopathia striata with cranial sclerosis (XLD) | Osteopathia Striata with Cranial Sclerosis |
AMN | Imerslund-Grasbeck syndrome 2 (AR) | |
AMPD1 | Myopathy due to myoadenylate deaminase deficiency (AR) | |
AMPD2 | Pontocerebellar hypoplasia, type 9 (AR) | |
AMT | Glycine encephalopathy (AR) | Nonketotic Hyperglycinemia |
ANK1 | Spherocytosis, type 1 (AD) | |
ANK3 | Mental retardation, autosomal recessive, 37 (AR) | |
ANKH | Chondrocalcinosis 2 (AD) Craniometaphyseal dysplasia (AD) | Craniometaphyseal Dysplasia, Autosomal Dominant |
ANKRD11 | KBG syndrome (AD) | KBG Syndrome |
ANKRD26 | Thrombocytopenia 2 (AD) | ANKRD26-Related Thrombocytopenia |
ANKS6 | Nephronophthisis 16 (AR) | Nephronophthisis |
ANO10 | Spinocerebellar ataxia, autosomal recessive 10 (AR) | |
ANO5 | Muscular dystrophy, limb-girdle, autosomal recessive 12 (AR) Miyoshi muscular dystrophy 3 (AR) Gnathodiaphyseal dysplasia (AD) | ANO5 Muscle Disease |
ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) (XLR) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
ANTXR1 | GAPO syndrome (AR) | |
ANTXR2 | Hyaline fibromatosis syndrome (AR) | Hyaline Fibromatosis Syndrome |
AP1B1 | Keratitis-ichthyosis-deafness syndrome, autosomal recessive (AR) | |
AP1S1 | MEDNIK syndrome (AR) | |
AP1S2 | Pettigrew syndrome (XLR) | |
AP3B1 | Hermansky-Pudlak syndrome 2 (AR) | Hermansky-Pudlak Syndrome |
AP3B2 | Developmental and epileptic encephalopathy 48 (AR) | |
AP4B1 | Spastic paraplegia 47, autosomal recessive (AR) | AP-4-Associated Hereditary Spastic Paraplegia |
AP4E1 | Spastic paraplegia 51, autosomal recessive (AR) | AP-4-Associated Hereditary Spastic Paraplegia |
AP4M1 | Spastic paraplegia 50, autosomal recessive (AR) | AP-4-Associated Hereditary Spastic Paraplegia |
AP4S1 | Spastic paraplegia 52, autosomal recessive (AR) | AP-4-Associated Hereditary Spastic Paraplegia |
APC | Brain tumor-polyposis syndrome 2 (AD) Desmoid disease, hereditary (AD) Gastric adenocarcinoma and proximal polyposis of the stomach (AD) Gardner syndrome (AD) Adenomatous polyposis coli (AD) | APC-Associated Polyposis Conditions |
APC2 | Cortical dysplasia, complex, with other brain malformations 10 (AR) Intellectual developmental disorder, autosomal recessive 74 (AR) | |
APOB | Hypobetalipoproteinemia (AR) | Familial Hypercholesterolemia APOB-Related Familial Hypobetalipoproteinemia |
APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (AR) | Ataxia with Oculomotor Apraxia Type 1 |
AR | Androgen insensitivity, partial, with or without breast cancer (XLR) Androgen insensitivity (XLR) Spinal and bulbar muscular atrophy of Kennedy (XLR) Hypospadias 1, X-linked (XLR) | Spinal and Bulbar Muscular Atrophy Androgen Insensitivity Syndrome |
ARCN1 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (AD) | |
ARFGEF2 | Periventricular heterotopia with microcephaly (AR) | |
ARG1 | Argininemia (AR) | Arginase Deficiency Urea Cycle Disorders Overview |
ARHGAP31 | Adams-Oliver syndrome 1 (AD) | Adams-Oliver Syndrome |
ARHGDIA | Nephrotic syndrome, type 8 (AR) | |
ARHGEF9 | Developmental and epileptic encephalopathy 8 (XLR) | |
ARID1A | Coffin-Siris syndrome 2 (AD) | Coffin-Siris Syndrome |
ARID1B | Coffin-Siris syndrome 1 (AD) | Coffin-Siris Syndrome ARID1B-Related Disorder |
ARID2 | Coffin-Siris syndrome 6 (AD) | Coffin-Siris Syndrome |
ARL13B | Joubert syndrome 8 (AR) | Joubert Syndrome |
ARL3 | Joubert syndrome 35 (AR) Retinitis pigmentosa 83 (AD) | |
ARL6 | Retinitis pigmentosa 55 (AR) Bardet-Biedl syndrome 3 (AR) | Bardet-Biedl Syndrome Overview Nonsyndromic Retinitis Pigmentosa Overview |
ARL6IP1 | |
ARMC4 | |
ARMC9 | Joubert syndrome 30 (AR) | |
ARNT2 | |
ARSA | Metachromatic leukodystrophy (AR) | Arylsulfatase A Deficiency |
ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) (AR) | |
ARSL | Chondrodysplasia punctata, X-linked recessive (XLR) | Chondrodysplasia Punctata 1, X-Linked |
ARV1 | Developmental and epileptic encephalopathy 38 (AR) | |
ARX | Proud syndrome (XLR) Hydranencephaly with abnormal genitalia (XLR) Partington syndrome (XLR) Developmental and epileptic encephalopathy 1 (XLR) Lissencephaly, X-linked 2 (XLR) Intellectual developmental disorder, X-linked 29 (XLR) | |
ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy (AR) Farber lipogranulomatosis (AR) | ASAH1-Related Disorders |
ASCC1 | Spinal muscular atrophy with congenital bone fractures 2 (AR) | |
ASH1L | Mental retardation, autosomal dominant 52 (AD) | |
ASL | Argininosuccinic aciduria (AR) | Urea Cycle Disorders Overview Argininosuccinate Lyase Deficiency |
ASNS | Asparagine synthetase deficiency (AR) | Asparagine Synthetase Deficiency |
ASPA | Canavan disease (AR) | Canavan Disease |
ASPH | Traboulsi syndrome (AR) | |
ASPM | Microcephaly 5, primary, autosomal recessive (AR) | ASPM Primary Microcephaly |
ASS1 | Citrullinemia (AR) | Urea Cycle Disorders Overview Citrullinemia Type I |
ASXL1 | Bohring-Opitz syndrome (AD) | Bohring-Optiz Syndrome |
ASXL2 | Shashi-Pena syndrome (AD) | |
ASXL3 | Bainbridge-Ropers syndrome (AD) | ASXL3-Related Disorder |
ATAD3A | Harel-Yoon syndrome (AR) Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (AR) Harel-Yoon syndrome (AD) | |
ATCAY | Ataxia, cerebellar, Cayman type (AR) | |
ATIC | AICA-ribosiduria due to ATIC deficiency (AR) | |
ATL1 | Spastic paraplegia 3A, autosomal dominant (AD) Neuropathy, hereditary sensory, type ID (AD) | Spastic Paraplegia 3A |
ATM | Ataxia-telangiectasia (AR) | Ataxia-Telangiectasia |
ATOH7 | Persistent hyperplastic primary vitreous, autosomal recessive (AR) | |
ATP13A2 | Spastic paraplegia 78, autosomal recessive (AR) Kufor-Rakeb syndrome (AR) | |
ATP1A1 | Hypomagnesemia, seizures, and mental retardation 2 (AD) Charcot-Marie-Tooth disease, axonal, type 2DD (AD) | |
ATP1A2 | Developmental and epileptic encephalopathy 98 (AD) Alternating hemiplegia of childhood 1 (AD) Migraine, familial basilar (AD) Migraine, familial hemiplegic, 2 (AD) | Familial Hemiplegic Migraine |
ATP1A3 | Alternating hemiplegia of childhood 2 (AD) Dystonia-12 (AD) CAPOS syndrome (AD) Developmental and epileptic encephalopathy 99 (AD) | ATP1A3-Related Neurologic Disorders |
ATP2A1 | Brody myopathy (AR) | |
ATP2B3 | |
ATP5MD | |
ATP6AP2 | Intellectual developmental disorder, X-linked, syndromic, Hedera type (XLR) Congenital disorder of glycosylation, type IIr (XLR) | |
ATP6V0A2 | Wrinkly skin syndrome (AR) Cutis laxa, autosomal recessive, type IIA (AR) | ATP6V0A2-Related Cutis Laxa |
ATP6V0A4 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss (AR) | Hereditary Distal Renal Tubular Acidosis |
ATP6V1A | Cutis laxa, autosomal recessive, type IID (AR) Developmental and epileptic encephalopathy 93 (AD) | |
ATP6V1B1 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (AR) | Hereditary Distal Renal Tubular Acidosis |
ATP6V1B2 | Zimmermann-Laband syndrome 2 (AD) Deafness, congenital, with onychodystrophy, autosomal dominant (AD) | |
ATP7A | Occipital horn syndrome (XLR) Spinal muscular atrophy, distal, X-linked 3 (XLR) Menkes disease (XLR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview ATP7A-Related Copper Transport Disorders |
ATP7B | Wilson disease (AR) | Wilson Disease |
ATP8A2 | |
ATP8B1 | Cholestasis, progressive familial intrahepatic 1 (AR) Cholestasis, benign recurrent intrahepatic (AR) | ATP8B1 Deficiency |
ATRX | Alpha-thalassemia/mental retardation syndrome (XLD) Mental retardation-hypotonic facies syndrome, X-linked (XLR) | Alpha-Thalassemia X-Linked Intellectual Disability Syndrome |
AUH | 3-methylglutaconic aciduria, type I (AR) | |
AUTS2 | Intellectual developmental disorder, autosomal dominant 26 (AD) | |
AVPR2 | Diabetes insipidus, nephrogenic, 1 (XLR) Nephrogenic syndrome of inappropriate antidiuresis (XLR) | Hereditary Nephrogenic Diabetes Insipidus |
B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 (AR) | |
B3GALT6 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 (AR) Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (AR) Al-Gazali syndrome (AR) | |
B3GALTL | |
B3GAT3 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects (AR) | |
B3GLCT | Peters-plus syndrome (AR) | Peters Plus Syndrome |
B4GALNT1 | Spastic paraplegia 26, autosomal recessive (AR) | |
B4GALT7 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 (AR) | |
B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 (AR) | |
B9D1 | Joubert syndrome 27 (AR) | Joubert Syndrome |
B9D2 | Joubert syndrome 34 (AR) | Joubert Syndrome |
BAAT | Bile acid conjugation defect 1 (AR) | |
BANF1 | Nestor-Guillermo progeria syndrome (AR) | |
BBS1 | Bardet-Biedl syndrome 1 (AR) | Bardet-Biedl Syndrome Overview |
BBS10 | Bardet-Biedl syndrome 10 (AR) | Bardet-Biedl Syndrome Overview |
BBS12 | Bardet-Biedl syndrome 12 (AR) | Bardet-Biedl Syndrome Overview |
BBS2 | Retinitis pigmentosa 74 (AR) Bardet-Biedl syndrome 2 (AR) | Bardet-Biedl Syndrome Overview |
BBS4 | Bardet-Biedl syndrome 4 (AR) | Bardet-Biedl Syndrome Overview |
BBS5 | Bardet-Biedl syndrome 5 (AR) | Bardet-Biedl Syndrome Overview |
BBS7 | Bardet-Biedl syndrome 7 (AR) | Bardet-Biedl Syndrome Overview |
BBS9 | Bardet-Biedl syndrome 9 (AR) | Bardet-Biedl Syndrome Overview |
BCAP31 | Deafness, dystonia, and cerebral hypomyelination (XLR) | |
BCKDHA | Maple syrup urine disease, type Ia (AR) | Maple Syrup Urine Disease |
BCKDHB | Maple syrup urine disease, type Ib (AR) | Maple Syrup Urine Disease |
BCKDK | |
BCL11A | Dias-Logan syndrome (AD) | BCL11A-Related Intellectual Disability |
BCOR | Microphthalmia, syndromic 2 (XLD) | |
BCS1L | GRACILE syndrome (AR) Mitochondrial complex III deficiency, nuclear type 1 (AR) Bjornstad syndrome (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
BGN | Meester-Loeys syndrome (XLR) Spondyloepimetaphyseal dysplasia, X-linked (XLR) | Heritable Thoracic Aortic Disease Overview |
BHLHA9 | Syndactyly, mesoaxial synostotic, with phalangeal reduction (AR) | |
BICD2 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant (AD) Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant (AD) | |
BIN1 | Centronuclear myopathy 2 (AR) | |
BLM | Bloom syndrome (AR) | Wilms Tumor Predisposition Bloom Syndrome |
BLNK | |
BMP1 | Osteogenesis imperfecta, type XIII (AR) | |
BMP2 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (AD) Brachydactyly, type A2 (AD) | |
BMP4 | Microphthalmia, syndromic 6 (AD) | |
BMPER | Diaphanospondylodysostosis (AR) | |
BMPR1A | Polyposis, juvenile intestinal (AD) | Juvenile Polyposis Syndrome |
BMPR1B | Acromesomelic dysplasia 3 (AR) Brachydactyly, type A2 (AD) Brachydactyly, type A1, D (AD) | Heritable Pulmonary Arterial Hypertension Overview |
BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (AR) | |
BPTF | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (AD) | |
BRAF | LEOPARD syndrome 3 (AD) Cardiofaciocutaneous syndrome (AD) Noonan syndrome 7 (AD) | Noonan Syndrome Cardiofaciocutaneous Syndrome Noonan Syndrome with Multiple Lentigines |
BRAT1 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (AR) Rigidity and multifocal seizure syndrome, lethal neonatal (AR) | |
BRCA2 | Fanconi anemia, complementation group D1 (AR) {Medulloblastoma}, 155255 (3) (AR) | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer Wilms Tumor Predisposition Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
BRD4 | |
BRPF1 | Intellectual developmental disorder with dysmorphic facies and ptosis (AD) | |
BRWD3 | Intellectual developmental disorder, X-linked 93 (XLR) | |
BSCL2 | Lipodystrophy, congenital generalized, type 2 (AR) Encephalopathy, progressive, with or without lipodystrophy (AR) Neuropathy, distal hereditary motor, type VC (AD) Silver spastic paraplegia syndrome (AD) | Berardinelli-Seip Congenital Lipodystrophy BSCL2-Related Neurologic Disorders/Seipinopathy |
BSND | Sensorineural deafness with mild renal dysfunction (AR) Bartter syndrome, type 4a (AR) | |
BTD | Biotinidase deficiency (AR) | Biotinidase Deficiency |
BTK | Agammaglobulinemia, X-linked 1 (XLR) Isolated growth hormone deficiency, type III, with agammaglobulinemia (XLR) | X-Linked Agammaglobulinemia |
C10ORF2 | |
C12orf57 | Temtamy syndrome (AR) | |
C12orf65 | |
C15orf41 | |
C19orf12 | Neurodegeneration with brain iron accumulation 4 (AR) | Neurodegeneration with Brain Iron Accumulation Disorders Overview Mitochondrial Membrane Protein-Associated Neurodegeneration |
C1QBP | Combined oxidative phosphorylation deficiency 33 (AR) | |
C2CD3 | Orofaciodigital syndrome XIV (AR) | Joubert Syndrome |
C8orf37 | |
CA2 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis (AR) | |
CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency (AR) | Carbonic Anhydrase VA Deficiency |
CA8 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 (AR) | |
CACNA1A | Spinocerebellar ataxia 6 (AD) Episodic ataxia, type 2 (AD) Developmental and epileptic encephalopathy 42 (AD) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (AD) Migraine, familial hemiplegic, 1 (AD) | Spinocerebellar Ataxia Type 6 Familial Hemiplegic Migraine |
CACNA1D | Sinoatrial node dysfunction and deafness (AR) Primary aldosteronism, seizures, and neurologic abnormalities (AD) | |
CACNA1E | Developmental and epileptic encephalopathy 69 (AD) | |
CACNA1F | Cone-rod dystrophy, X-linked, 3 (XLR) Night blindness, congenital stationary (incomplete), 2A, X-linked (XLR) Aland Island eye disease (XLR) | X-Linked Congenital Stationary Night Blindness |
CACNA1G | Spinocerebellar ataxia 42 (AD) Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (AD) | |
CAD | Developmental and epileptic encephalopathy 50 (AR) | |
CAMK2A | |
CAMK2B | Mental retardation, autosomal dominant 54 (AD) | |
CAMTA1 | Cerebellar dysfunction with variable cognitive and behavioral abnormalities (AD) | |
CANT1 | Desbuquois dysplasia 1 (AR) Epiphyseal dysplasia, multiple, 7 (AR) | |
CAPN3 | Muscular dystrophy, limb-girdle, autosomal recessive 1 (AR) | Calpainopathy |
CARD11 | Immunodeficiency 11A (AR) B-cell expansion with NFKB and T-cell anergy (AD) Immunodeficiency 11B with atopic dermatitis (AD) | |
CARS2 | Combined oxidative phosphorylation deficiency 27 (AR) | |
CASK | Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (XLD) | CASK Disorders |
CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic, 2 (AR) | Catecholaminergic Polymorphic Ventricular Tachycardia |
CASR | Hyperparathyroidism, neonatal (AR) Hypocalcemia, autosomal dominant, with Bartter syndrome (AD) Hyperparathyroidism, neonatal (AD) Hypocalcemia, autosomal dominant (AD) Hypocalciuric hypercalcemia, type I (AD) | Pancreatitis Overview |
CAV1 | Pulmonary hypertension, primary, 3 (AD) Lipodystrophy, familial partial, type 7 (AD) | Heritable Pulmonary Arterial Hypertension Overview |
CAV3 | Myopathy, distal, Tateyama type (AD) Creatine phosphokinase, elevated serum (AD) Cardiomyopathy, familial hypertrophic (AD) Rippling muscle disease 2 (AD) Long QT syndrome 9 (AD) | Long QT Syndrome |
CAVIN1 | Lipodystrophy, congenital generalized, type 4 (AR) | |
CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (AD) | |
CBS | Thrombosis, hyperhomocysteinemic (AR) Homocystinuria, B6-responsive and nonresponsive types (AR) | Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
CC2D1A | Mental retardation, autosomal recessive 3 (AR) | |
CC2D2A | Meckel syndrome 6 (AR) Joubert syndrome 9 (AR) | Joubert Syndrome |
CCBE1 | Hennekam lymphangiectasia-lymphedema syndrome 1 (AR) | |
CCDC103 | Ciliary dyskinesia, primary, 17 (AR) | Primary Ciliary Dyskinesia |
CCDC114 | |
CCDC115 | Congenital disorder of glycosylation, type IIo (AR) | |
CCDC151 | |
CCDC22 | Ritscher-Schinzel syndrome 2 (XLR) | Ritscher-Schinzel Syndrome |
CCDC39 | Ciliary dyskinesia, primary, 14 (AR) | Primary Ciliary Dyskinesia |
CCDC40 | Ciliary dyskinesia, primary, 15 (AR) | Primary Ciliary Dyskinesia |
CCDC47 | Trichohepatoneurodevelopmental syndrome (AR) | |
CCDC65 | Ciliary dyskinesia, primary, 27 (AR) | Primary Ciliary Dyskinesia |
CCDC78 | |
CCDC8 | 3-M syndrome 3 (AR) | Three M Syndrome |
CCDC88A | |
CCDC88C | Hydrocephalus, congenital, 1 (AR) | |
CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (AD) | MPPH Syndrome |
CCNK | |
CCNO | Ciliary dyskinesia, primary, 29 (AR) | Primary Ciliary Dyskinesia |
CCNQ | STAR syndrome (XLD) | |
CCT5 | Neuropathy, hereditary sensory, with spastic paraplegia (AR) | |
CD19 | Immunodeficiency, common variable, 3 (AR) | |
CD247 | |
CD2AP | |
CD3D | Immunodeficiency 19 (AR) | |
CD3E | Immunodeficiency 18 (AR) Immunodeficiency 18, SCID variant (AR) | |
CD3G | Immunodeficiency 17, CD3 gamma deficient (AR) | |
CD40 | Immunodeficiency with hyper-IgM, type 3 (AR) | |
CD40LG | Immunodeficiency, X-linked, with hyper-IgM (XLR) | X-Linked Hyper IgM Syndrome |
CD79A | Agammaglobulinemia 3 (AR) | |
CD79B | Agammaglobulinemia 6 (AR) | |
CD96 | C syndrome (AD) | |
CDAN1 | Dyserythropoietic anemia, congenital, type Ia (AR) | Congenital Dyserythropoietic Anemia Type I |
CDC45 | Meier-Gorlin syndrome 7 (AR) | |
CDH2 | Arrhythmogenic right ventricular dysplasia, familial, 14 (AD) Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (AD) | |
CDH23 | Usher syndrome, type 1D (AR) Usher syndrome, type 1D/F digenic (AR) Deafness, autosomal recessive 12 (AR) | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
CDH3 | Hypotrichosis, congenital, with juvenile macular dystrophy (AR) Ectodermal dysplasia, ectrodactyly, and macular dystrophy (AR) | |
CDK10 | Al Kaissi syndrome (AR) | |
CDK13 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (AD) | CDK13-Related Disorder |
CDK19 | Developmental and epileptic encephalopathy 87 (AD) | |
CDK5RAP2 | Microcephaly 3, primary, autosomal recessive (AR) | |
CDKL5 | Developmental and epileptic encephalopathy 2 (XLD) | |
CDKN1C | IMAGE syndrome (AD) Beckwith-Wiedemann syndrome (AD) | Wilms Tumor Predisposition Silver-Russell Syndrome Beckwith-Wiedemann Syndrome IMAGe Syndrome |
CDON | Holoprosencephaly 11 (AD) | Holoprosencephaly Overview |
CDSN | Hypotrichosis 2 (AD) Peeling skin syndrome 1 (AR) | |
CDT1 | Meier-Gorlin syndrome 4 (AR) | |
CENPF | Stromme syndrome (AR) | |
CENPJ | Microcephaly 6, primary, autosomal recessive (AR) | |
CEP104 | Joubert syndrome 25 (AR) | Joubert Syndrome |
CEP135 | Microcephaly 8, primary, autosomal recessive (AR) | |
CEP152 | Microcephaly 9, primary, autosomal recessive (AR) Seckel syndrome 5 (AR) | |
CEP164 | Nephronophthisis 15 (AR) | Nephronophthisis |
CEP290 | Joubert syndrome 5 (AR) Senior-Loken syndrome 6 (AR) Meckel syndrome 4 (AR) | Joubert Syndrome Bardet-Biedl Syndrome Overview Nephronophthisis |
CEP41 | Joubert syndrome 15 (AR) | Joubert Syndrome |
CEP57 | Mosaic variegated aneuploidy syndrome 2 (AR) | |
CEP63 | |
CEP83 | Nephronophthisis 18 (AR) | Nephronophthisis |
CERS1 | |
CERS3 | Ichthyosis, congenital, autosomal recessive 9 (AR) | Autosomal Recessive Congenital Ichthyosis |
CERT1 | Intellectual developmental disorder, autosomal dominant 34 (AD) | |
CFAP298 | Ciliary dyskinesia, primary, 26 (AR) | Primary Ciliary Dyskinesia |
CFAP300 | Ciliary dyskinesia, primary, 38 (AR) | |
CFAP410 | Retinal dystrophy with macular staphyloma (AR) Spondylometaphyseal dysplasia, axial (AR) | |
CFC1 | Heterotaxy, visceral, 2, autosomal (AD) | |
CFL2 | Nemaline myopathy 7, autosomal recessive (AR) | |
CFP | Properdin deficiency, X-linked (XLR) | |
CFTR | Cystic fibrosis (AR) Congenital bilateral absence of vas deferens (AR) | Cystic Fibrosis and Congenital Absence of the Vas Deferens Pancreatitis Overview |
CHAMP1 | Mental retardation, autosomal dominant 40 (AD) | |
CHAT | Myasthenic syndrome, congenital, 6, presynaptic (AR) | Congenital Myasthenic Syndromes Overview |
CHD2 | Developmental and epileptic encephalopathy 94 (AD) | CHD2-Related Neurodevelopmental Disorders |
CHD3 | Snijders Blok-Campeau syndrome (AD) | |
CHD4 | Sifrim-Hitz-Weiss syndrome (AD) | CHD4 Neurodevelopmental Disorder |
CHD7 | Hypogonadotropic hypogonadism 5 with or without anosmia (AD) CHARGE syndrome (AD) | CHD7 Disorder Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Esophageal Atresia/Tracheoesophageal Fistula Overview |
CHD8 | |
CHKB | Muscular dystrophy, congenital, megaconial type (AR) | |
CHM | Choroideremia (XLD) | Choroideremia |
CHMP1A | Pontocerebellar hypoplasia, type 8 (AR) | |
CHRDL1 | Megalocornea 1, X-linked (XLR) | |
CHRNA1 | Myasthenic syndrome, congenital, 1B, fast-channel (AR) Multiple pterygium syndrome, lethal type (AR) Myasthenic syndrome, congenital, 1B, fast-channel (AD) Myasthenic syndrome, congenital, 1A, slow-channel (AD) | Congenital Myasthenic Syndromes Overview |
CHRNA2 | Epilepsy, nocturnal frontal lobe, type 4 (AD) | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
CHRNA4 | Epilepsy, nocturnal frontal lobe, 1 (AD) | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
CHRNB1 | |
CHRND | Multiple pterygium syndrome, lethal type (AR) Myasthenic syndrome, congenital, 3B, fast-channel (AR) | Congenital Myasthenic Syndromes Overview |
CHRNE | Myasthenic syndrome, congenital, 4A, slow-channel (AR) Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (AR) Myasthenic syndrome, congenital, 4B, fast-channel (AR) Myasthenic syndrome, congenital, 4A, slow-channel (AD) | Congenital Myasthenic Syndromes Overview |
CHRNG | Multiple pterygium syndrome, lethal type (AR) Escobar syndrome (AR) | |
CHST14 | Ehlers-Danlos syndrome, musculocontractural type 1 (AR) | |
CHST3 | Spondyloepiphyseal dysplasia with congenital joint dislocations (AR) | CHST3-Related Skeletal Dysplasia |
CHSY1 | Temtamy preaxial brachydactyly syndrome (AR) | |
CHUK | Cocoon syndrome (AR) | |
CIB2 | Deafness, autosomal recessive 48 (AR) Usher syndrome, type IJ (AR) | Usher Syndrome Type I |
CILK1 | Endocrine-cerebroosteodysplasia (AR) | |
CISD2 | Wolfram syndrome 2 (AR) | |
CIT | Microcephaly 17, primary, autosomal recessive (AR) | |
CKAP2L | Filippi syndrome (AR) | |
CLCN1 | Myotonia congenita, recessive (AR) Myotonia congenita, dominant (AD) | Myotonia Congenita |
CLCN2 | Leukoencephalopathy with ataxia (AR) Hyperaldosteronism, familial, type II (AD) {Epilepsy, juvenile absence, susceptibility to, 2} (AD) | CLCN2-Related Leukoencephalopathy |
CLCN4 | Raynaud-Claes syndrome (XLD) | CLCN4-Related Neurodevelopmental Disorder |
CLCN5 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (XLR) Hypophosphatemic rickets (XLR) Dent disease 1 (XLR) Nephrolithiasis, type I (XLR) | Dent Disease |
CLCN7 | Osteopetrosis, autosomal recessive 4 (AR) Hypopigmentation, organomegaly, and delayed myelination and development (AD) Osteopetrosis, autosomal dominant 2 (AD) | CLCN7-Related Osteopetrosis |
CLCNKA | |
CLCNKB | Bartter syndrome, type 3 (AR) | |
CLDN1 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (AR) | |
CLDN14 | Deafness, autosomal recessive 29 (AR) | Hereditary Hearing Loss and Deafness Overview |
CLDN16 | Hypomagnesemia 3, renal (AR) | |
CLDN19 | Hypomagnesemia 5, renal, with ocular involvement (AR) | |
CLMP | Congenital short bowel syndrome (AR) | |
CLN3 | Ceroid lipofuscinosis, neuronal, 3 (AR) | |
CLN5 | Ceroid lipofuscinosis, neuronal, 5 (AR) | |
CLN6 | Ceroid lipofuscinosis, neuronal, 6B (Kufs type) (AR) Ceroid lipofuscinosis, neuronal, 6A (AR) | |
CLN8 | Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (AR) Ceroid lipofuscinosis, neuronal, 8 (AR) | |
CLP1 | Pontocerebellar hypoplasia, type 10 (AR) | |
CLPB | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia (AR) | CLPB Deficiency |
CLPP | Perrault syndrome 3 (AR) | Perrault Syndrome |
CLRN1 | Usher syndrome, type 3A (AR) | Nonsyndromic Retinitis Pigmentosa Overview |
CLTC | Mental retardation, autosomal dominant 56 (AD) | |
CNGB3 | Achromatopsia 3 (AR) | Achromatopsia |
CNKSR2 | Intellectual developmental disorder, X-linked, syndromic, Houge type (XLR) | |
CNNM2 | Hypomagnesemia, seizures, and mental retardation (AR) Hypomagnesemia 6, renal (AD) Hypomagnesemia, seizures, and mental retardation (AD) | |
CNOT1 | Vissers-Bodmer syndrome (AD) Holoprosencephaly 12, with or without pancreatic agenesis (AD) | |
CNOT3 | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (AD) | |
CNPY3 | Developmental and epileptic encephalopathy 60 (AR) | |
CNTNAP1 | Lethal congenital contracture syndrome 7 (AR) Hypomyelinating neuropathy, congenital, 3 (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
CNTNAP2 | Pitt-Hopkins like syndrome 1 (AR) | |
COA6 | Mitochondrial complex IV deficiency, nuclear type 13 (AR) | |
COA8 | Mitochondrial complex IV deficiency, nuclear type 17 (AR) | |
COASY | Pontocerebellar hypoplasia, type 12 (AR) Neurodegeneration with brain iron accumulation 6 (AR) | Neurodegeneration with Brain Iron Accumulation Disorders Overview |
COCH | Deafness, autosomal dominant 9 (AD) | Hereditary Hearing Loss and Deafness Overview |
COG1 | Congenital disorder of glycosylation, type IIg (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG4 | Congenital disorder of glycosylation, type IIj (AR) Saul-Wilson syndrome (AD) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview Saul-Wilson Syndrome |
COG5 | Congenital disorder of glycosylation, type IIi (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG6 | Shaheen syndrome (AR) Congenital disorder of glycosylation, type IIl (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG7 | Congenital disorder of glycosylation, type IIe (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
COG8 | |
COL10A1 | Metaphyseal chondrodysplasia, Schmid type (AD) | Schmid Metaphyseal Chondrodysplasia |
COL11A1 | Stickler syndrome, type II (AD) Marshall syndrome (AD) Deafness, autosomal dominant 37 (AD) Fibrochondrogenesis 1 (AR) | Stickler Syndrome |
COL11A2 | Deafness, autosomal dominant 13 (AD) Fibrochondrogenesis 2 (AD) Otospondylomegaepiphyseal dysplasia, autosomal dominant (AD) Otospondylomegaepiphyseal dysplasia, autosomal recessive (AR) Fibrochondrogenesis 2 (AR) Deafness, autosomal recessive 53 (AR) | Stickler Syndrome Hereditary Hearing Loss and Deafness Overview |
COL17A1 | Epidermolysis bullosa, junctional, localisata variant (AR) Epidermolysis bullosa, junctional, non-Herlitz type (AR) Epithelial recurrent erosion dystrophy (AD) | Junctional Epidermolysis Bullosa |
COL1A1 | Osteogenesis imperfecta, type II (AD) Caffey disease (AD) Ehlers-Danlos syndrome, arthrochalasia type, 1 (AD) Osteogenesis imperfecta, type I (AD) Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (AD) Osteogenesis imperfecta, type IV (AD) Osteogenesis imperfecta, type III (AD) | Classic Ehlers-Danlos Syndrome COL1A1/2 Osteogenesis Imperfecta Caffey Disease |
COL1A2 | Osteogenesis imperfecta, type III (AD) Ehlers-Danlos syndrome, arthrochalasia type, 2 (AD) Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (AD) Osteogenesis imperfecta, type IV (AD) Osteogenesis imperfecta, type II (AD) Ehlers-Danlos syndrome, cardiac valvular type (AR) | COL1A1/2 Osteogenesis Imperfecta |
COL2A1 | Czech dysplasia (AD) Achondrogenesis, type II or hypochondrogenesis (AD) Spondyloperipheral dysplasia (AD) SMED Strudwick type (AD) Stickler sydrome, type I, nonsyndromic ocular (AD) SED congenita (AD) Kniest dysplasia (AD) Osteoarthritis with mild chondrodysplasia (AD) Stickler syndrome, type I (AD) Platyspondylic skeletal dysplasia, Torrance type (AD) Spondyloepiphyseal dysplasia, Stanescu type (AD) Avascular necrosis of the femoral head (AD) Legg-Calve-Perthes disease (AD) | Stickler Syndrome Type II Collagen Disorders Overview Spondylometaphyseal Dysplasia, Corner Fracture Type |
COL3A1 | Ehlers-Danlos syndrome, vascular type (AD) Polymicrogyria with or without vascular-type EDS (AR) | Vascular Ehlers-Danlos Syndrome |
COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (AD) Microangiopathy and leukoencephalopathy, pontine, autosomal dominant (AD) Brain small vessel disease with or without ocular anomalies (AD) | COL4A1-Related Disorders |
COL4A2 | Brain small vessel disease 2 (AD) | |
COL4A3 | Hematuria, benign familial (AD) Alport syndrome 3, autosomal dominant (AD) Alport syndrome 2, autosomal recessive (AR) | Alport Syndrome |
COL4A4 | Alport syndrome 2, autosomal recessive (AR) | Alport Syndrome |
COL4A5 | Alport syndrome 1, X-linked (XLD) | Alport Syndrome |
COL5A1 | Ehlers-Danlos syndrome, classic type, 1 (AD) Fibromuscular dysplasia, multifocal (AD) | Classic Ehlers-Danlos Syndrome |
COL5A2 | Ehlers-Danlos syndrome, classic type, 2 (AD) | Classic Ehlers-Danlos Syndrome |
COL6A1 | Bethlem myopathy 1 (AR) Ullrich congenital muscular dystrophy 1 (AR) Bethlem myopathy 1 (AD) Ullrich congenital muscular dystrophy 1 (AD) | Collagen VI-Related Dystrophies |
COL6A2 | Bethlem myopathy 1 (AR) Ullrich congenital muscular dystrophy 1 (AR) Bethlem myopathy 1 (AD) Ullrich congenital muscular dystrophy 1 (AD) | Collagen VI-Related Dystrophies |
COL6A3 | Ullrich congenital muscular dystrophy 1 (AR) Dystonia 27 (AR) Bethlem myopathy 1 (AR) Ullrich congenital muscular dystrophy 1 (AD) Bethlem myopathy 1 (AD) | Collagen VI-Related Dystrophies |
COL7A1 | Epidermolysis bullosa, pretibial (AD) Transient bullous of the newborn (AD) EBD, Bart type (AD) Epidermolysis bullosa dystrophica, AD (AD) Epidermolysis bullosa pruriginosa (AD) Toenail dystrophy, isolated (AD) Epidermolysis bullosa, pretibial (AR) Transient bullous of the newborn (AR) Epidermolysis bullosa pruriginosa (AR) EBD inversa (AR) Epidermolysis bullosa dystrophica, AR (AR) | Dystrophic Epidermolysis Bullosa |
COL9A1 | |
COL9A2 | |
COL9A3 | Epiphyseal dysplasia, multiple, 3, with or without myopathy (AD) | Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome |
COLEC10 | 3MC syndrome 3 (AR) | |
COLEC11 | 3MC syndrome 2 (AR) | |
COLQ | Myasthenic syndrome, congenital, 5 (AR) | Congenital Myasthenic Syndromes Overview |
COMP | Pseudoachondroplasia (AD) Carpal tunnel syndrome 2 (AD) Epiphyseal dysplasia, multiple, 1 (AD) | Multiple Epiphyseal Dysplasia, Dominant Pseudoachondroplasia |
COQ2 | Coenzyme Q10 deficiency, primary, 1 (AR) | Primary Coenzyme Q10 Deficiency |
COQ4 | Coenzyme Q10 deficiency, primary, 7 (AR) | Primary Coenzyme Q10 Deficiency |
COQ6 | Coenzyme Q10 deficiency, primary, 6 (AR) | Primary Coenzyme Q10 Deficiency |
COQ8A | Coenzyme Q10 deficiency, primary, 4 (AR) | Primary Coenzyme Q10 Deficiency |
COQ8B | Nephrotic syndrome, type 9 (AR) | Primary Coenzyme Q10 Deficiency |
COQ9 | Coenzyme Q10 deficiency, primary, 5 (AR) | Primary Coenzyme Q10 Deficiency |
CORO1A | Immunodeficiency 8 (AR) | |
COX10 | Mitochondrial complex IV deficiency, nuclear type 3 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
COX15 | Mitochondrial complex IV deficiency, nuclear type 6 (AR) | |
COX20 | Mitochondrial complex IV deficiency, nuclear type 11 (AR) | |
COX6B1 | Mitochondrial complex IV deficiency, nuclear type 7 (AR) | |
COX7B | Linear skin defects with multiple congenital anomalies 2 (XLD) | Microphthalmia with Linear Skin Defects Syndrome |
CPLANE1 | Orofaciodigital syndrome VI (AR) Joubert syndrome 17 (AR) | Joubert Syndrome |
CPS1 | Carbamoylphosphate synthetase I deficiency (AR) | Urea Cycle Disorders Overview |
CPT1A | CPT deficiency, hepatic, type IA (AR) | Carnitine Palmitoyltransferase 1A Deficiency |
CPT2 | CPT II deficiency, infantile (AR) CPT II deficiency, lethal neonatal (AR) CPT II deficiency, myopathic, stress-induced (AR) CPT II deficiency, myopathic, stress-induced (AD) | Carnitine Palmitoyltransferase II Deficiency |
CRADD | Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly (AR) | |
CRB1 | Leber congenital amaurosis 8 (AR) Retinitis pigmentosa-12 (AR) | Nonsyndromic Retinitis Pigmentosa Overview |
CRB2 | Focal segmental glomerulosclerosis 9 (AR) Ventriculomegaly with cystic kidney disease (AR) | |
CRBN | Mental retardation, autosomal recessive 2 (AR) | |
CREB3L1 | Osteogenesis imperfecta, type XVI (AR) | |
CREBBP | Menke-Hennekam syndrome 1 (AD) Rubinstein-Taybi syndrome 1 (AD) | Rubinstein-Taybi Syndrome |
CRELD1 | Atrioventricular septal defect, partial, with heterotaxy syndrome (AD) | |
CRIPT | Short stature with microcephaly and distinctive facies (AR) | |
CRLF1 | Cold-induced sweating syndrome 1 (AR) | Cold-Induced Sweating Syndrome including Crisponi Syndrome |
CRPPA | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (AR) | |
CRTAP | Osteogenesis imperfecta, type VII (AR) | |
CRX | Cone-rod retinal dystrophy-2 (AD) | Nonsyndromic Retinitis Pigmentosa Overview |
CRYAA | Cataract 9, multiple types (AR) Cataract 9, multiple types (AD) | |
CRYAB | Myopathy, myofibrillar, 2 (AD) Cataract 16, multiple types (AD) Cardiomyopathy, dilated, 1II (AD) | |
CSF1R | Brain abnormalities, neurodegeneration, and dysosteosclerosis (AR) | CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
CSF2RA | |
CSF2RB | Surfactant metabolism dysfunction, pulmonary, 5 (AR) | |
CSF3R | Neutropenia, severe congenital, 7, autosomal recessive (AR) | |
CSNK1E | |
CSNK2A1 | Okur-Chung neurodevelopmental syndrome (AD) | |
CSNK2B | Poirier-Bienvenu neurodevelopmental syndrome (AD) | |
CSPP1 | Joubert syndrome 21 (AR) | Joubert Syndrome |
CSTA | Peeling skin syndrome 4 (AR) | |
CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) (AR) | Progressive Myoclonic Epilepsy Type 1 |
CTC1 | Cerebroretinal microangiopathy with calcifications and cysts (AR) | Dyskeratosis Congenita |
CTCF | Mental retardation, autosomal dominant 21 (AD) | |
CTDP1 | Congenital cataracts, facial dysmorphism, and neuropathy (AR) | Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
CTNNA2 | Cortical dysplasia, complex, with other brain malformations 9 (AR) | |
CTNNB1 | Exudative vitreoretinopathy 7 (AD) Neurodevelopmental disorder with spastic diplegia and visual defects (AD) | |
CTNND1 | Blepharocheilodontic syndrome 2 (AD) | |
CTNS | Cystinosis, nephropathic (AR) Cystinosis, ocular nonnephropathic (AR) Cystinosis, late-onset juvenile or adolescent nephropathic (AR) Cystinosis, atypical nephropathic (AR) | Cystinosis |
CTPS1 | Immunodeficiency 24 (AR) | |
CTSA | Galactosialidosis (AR) | |
CTSD | Ceroid lipofuscinosis, neuronal, 10 (AR) | |
CTSK | Pycnodysostosis (AR) | Pycnodysostosis |
CTU2 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (AR) | |
CUBN | [Proteinuria, chronic benign] (AR) Imerslund-Grasbeck syndrome 1 (AR) | |
CUL3 | Neurodevelopmental disorder with or without autism or seizures (AD) Pseudohypoaldosteronism, type IIE (AD) | Pseudohypoaldosteronism Type II |
CUL4B | Mental retardation, X-linked, syndromic 15 (Cabezas type) (XLR) | |
CUL7 | 3-M syndrome 1 (AR) | Three M Syndrome |
CWC27 | Retinitis pigmentosa with or without skeletal anomalies (AR) | |
CWF19L1 | Spinocerebellar ataxia, autosomal recessive 17 (AR) | |
CXCR4 | WHIM syndrome 1 (AD) Myelokathexis, isolated (AD) | |
CYB5R3 | Methemoglobinemia, type I (AR) Methemoglobinemia, type II (AR) | |
CYBA | Chronic granulomatous disease 4, autosomal recessive (AR) | Chronic Granulomatous Disease |
CYBB | Immunodeficiency 34, mycobacteriosis, X-linked (XLR) Chronic granulomatous disease, X-linked (XLR) | Chronic Granulomatous Disease |
CYC1 | Mitochondrial complex III deficiency, nuclear type 6 (AR) | |
CYP11A1 | |
CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (AR) Aldosteronism, glucocorticoid-remediable (AD) | |
CYP11B2 | Hypoaldosteronism, congenital, due to CMO I deficiency (AR) Hypoaldosteronism, congenital, due to CMO II deficiency (AR) | |
CYP17A1 | 17,20-lyase deficiency, isolated (AR) 17-alpha-hydroxylase/17,20-lyase deficiency (AR) | |
CYP21A2 | Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (AR) Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (AR) | 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia |
CYP24A1 | Hypercalcemia, infantile, 1 (AR) | |
CYP27A1 | Cerebrotendinous xanthomatosis (AR) | Cerebrotendinous Xanthomatosis |
CYP27B1 | Vitamin D-dependent rickets, type I (AR) | |
CYP2U1 | Spastic paraplegia 56, autosomal recessive (AR) | |
CYP4F22 | Ichthyosis, congenital, autosomal recessive 5 (AR) | |
CYP7B1 | Spastic paraplegia 5A, autosomal recessive (AR) Bile acid synthesis defect, congenital, 3 (AR) | |
Cxorf56 | |
D2HGDH | D-2-hydroxyglutaric aciduria (AR) | |
DAG1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (AR) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (AR) | |
DARS1 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity (AR) | |
DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (AR) | Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation |
DBT | Maple syrup urine disease, type II (AR) | Maple Syrup Urine Disease |
DCAF17 | Woodhouse-Sakati syndrome (AR) | Neurodegeneration with Brain Iron Accumulation Disorders Overview Woodhouse-Sakati Syndrome |
DCDC2 | Nephronophthisis 19 (AR) Sclerosing cholangitis, neonatal (AR) | Nephronophthisis |
DCHS1 | Van Maldergem syndrome 1 (AR) | |
DCLRE1C | Severe combined immunodeficiency, Athabascan type (AR) Omenn syndrome (AR) | |
DCX | Subcortical laminal heterotopia, X-linked (XLR) Lissencephaly, X-linked (XLR) Subcortical laminal heterotopia, X-linked (XLD) Lissencephaly, X-linked (XLD) | DCX-Related Disorders |
DDB2 | Xeroderma pigmentosum, group E, DDB-negative subtype (AR) | Xeroderma Pigmentosum |
DDC | Aromatic L-amino acid decarboxylase deficiency (AR) | |
DDHD1 | Spastic paraplegia 28, autosomal recessive (AR) | |
DDHD2 | Spastic paraplegia 54, autosomal recessive (AR) | |
DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type (AR) Warburg-Cinotti syndrome (AD) | |
DDX11 | Warsaw breakage syndrome (AR) | Warsaw Syndrome |
DDX3X | |
DDX59 | Orofaciodigital syndrome V (AR) | |
DDX6 | Intellectual developmental disorder with impaired language and dysmorphic facies (AD) | |
DEAF1 | Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (AR) Vulto-van Silfout-de Vries syndrome (AD) | |
DENND5A | Developmental and epileptic encephalopathy 49 (AR) | |
DEPDC5 | Epilepsy, familial focal, with variable foci 1 (AD) | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy DEPDC5-Related Epilepsy |
DES | Scapuloperoneal syndrome, neurogenic, Kaeser type (AD) Cardiomyopathy, dilated, 1I (AD) Myopathy, myofibrillar, 1 (AD) | Dilated Cardiomyopathy Overview |
DFNA5 | |
DFNB59 | |
DGAT1 | |
DGKE | Nephrotic syndrome, type 7 (AR) | Genetic Atypical Hemolytic-Uremic Syndrome C3 Glomerulopathy |
DGUOK | Portal hypertension, noncirrhotic, 1 (AR) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (AR) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (AR) | Deoxyguanosine Kinase Deficiency |
DHCR24 | Desmosterolosis (AR) | |
DHCR7 | Smith-Lemli-Opitz syndrome (AR) | Smith-Lemli-Opitz Syndrome |
DHDDS | Retinitis pigmentosa 59 (AR) Developmental delay and seizures with or without movement abnormalities (AD) | Nonsyndromic Retinitis Pigmentosa Overview |
DHH | 46XY gonadal dysgenesis with minifascicular neuropathy (AR) 46XY sex reversal 7 (AR) | Nonsyndromic Disorders of Testicular Development |
DHODH | Miller syndrome (AR) | |
DHTKD1 | |
DHX16 | Neuromuscular disease and ocular or auditory anomalies with or without seizures (AD) | |
DHX30 | Neurodevelopmental disorder with severe motor impairment and absent language (AD) | |
DHX37 | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (AR) 46, XY sex reversal 11 (AD) | |
DIAPH1 | Seizures, cortical blindness, microcephaly syndrome (AR) Deafness, autosomal dominant 1, with or without thrombocytopenia (AD) | Hereditary Hearing Loss and Deafness Overview |
DIS3L2 | Perlman syndrome (AR) | Wilms Tumor Predisposition |
DLAT | Pyruvate dehydrogenase E2 deficiency (AR) | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
DLD | Dihydrolipoamide dehydrogenase deficiency (AR) | Dihydrolipoamide Dehydrogenase Deficiency Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
DLG3 | Intellectual developmental disorder, X-linked 90 (XLR) | |
DLG4 | Intellectual developmental disorder 62 (AD) | |
DLL1 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (AD) | Holoprosencephaly Overview |
DLL3 | Spondylocostal dysostosis 1, autosomal recessive (AR) | Spondylocostal Dysostosis, Autosomal Recessive |
DLL4 | Adams-Oliver syndrome 6 (AD) | Adams-Oliver Syndrome |
DLX5 | |
DMD | Becker muscular dystrophy (XLR) Cardiomyopathy, dilated, 3B (XLR) Duchenne muscular dystrophy (XLR) | Dystrophinopathies NR0B1-Related Adrenal Hypoplasia Congenita |
DMP1 | Hypophosphatemic rickets, AR (AR) | |
DMPK | Myotonic dystrophy 1 (AD) | Myotonic Dystrophy Type 1 |
DMXL2 | |
DNA2 | |
DNAAF1 | Ciliary dyskinesia, primary, 13 (AR) | Primary Ciliary Dyskinesia |
DNAAF3 | Ciliary dyskinesia, primary, 2 (AR) | Primary Ciliary Dyskinesia |
DNAAF4 | Ciliary dyskinesia, primary, 25 (AR) | Primary Ciliary Dyskinesia |
DNAAF5 | Ciliary dyskinesia, primary, 18 (AR) | Primary Ciliary Dyskinesia |
DNAH11 | Ciliary dyskinesia, primary, 7, with or without situs inversus (AR) | Primary Ciliary Dyskinesia |
DNAH5 | Ciliary dyskinesia, primary, 3, with or without situs inversus (AR) | Primary Ciliary Dyskinesia |
DNAH9 | Ciliary dyskinesia, primary, 40 (AR) | |
DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus (AR) | Primary Ciliary Dyskinesia |
DNAJB6 | Muscular dystrophy, limb-girdle, autosomal dominant 1 (AD) | |
DNAJC12 | Hyperphenylalaninemia, mild, non-BH4-deficient (AR) | |
DNAJC19 | 3-methylglutaconic aciduria, type V (AR) | |
DNAJC3 | |
DNAJC5 | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) (AD) | |
DNM1 | Developmental and epileptic encephalopathy 31 (AD) | |
DNM1L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (AR) Optic atrophy 5 (AD) Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (AD) | |
DNM2 | Centronuclear myopathy 1 (AD) Charcot-Marie-Tooth disease, axonal type 2M (AD) Charcot-Marie-Tooth disease, dominant intermediate B (AD) Lethal congenital contracture syndrome 5 (AR) | |
DNMT3A | Tatton-Brown-Rahman syndrome (AD) Heyn-Sproul-Jackson syndrome (AD) | |
DNMT3B | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (AR) | Facioscapulohumeral Muscular Dystrophy |
DOCK6 | Adams-Oliver syndrome 2 (AR) | Adams-Oliver Syndrome |
DOCK7 | Developmental and epileptic encephalopathy 23 (AR) | |
DOCK8 | Hyper-IgE recurrent infection syndrome, autosomal recessive (AR) | |
DOK7 | Fetal akinesia deformation sequence 3 (AR) Myasthenic syndrome, congenital, 10 (AR) | Congenital Myasthenic Syndromes Overview |
DOLK | Congenital disorder of glycosylation, type Im (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPAGT1 | Myasthenic syndrome, congenital, 13, with tubular aggregates (AR) Congenital disorder of glycosylation, type Ij (AR) | Congenital Myasthenic Syndromes Overview Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPF2 | Coffin-Siris syndrome 7 (AD) | Coffin-Siris Syndrome |
DPM1 | Congenital disorder of glycosylation, type Ie (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPM2 | Congenital disorder of glycosylation, type Iu (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
DPYD | Dihydropyrimidine dehydrogenase deficiency (AR) 5-fluorouracil toxicity (AR) | |
DRC1 | Ciliary dyskinesia, primary, 21 (AR) | Primary Ciliary Dyskinesia |
DSE | Ehlers-Danlos syndrome, musculocontractural type 2 (AR) | |
DSG1 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE (AR) Keratosis palmoplantaris striata I, AD (AD) | |
DSP | Arrhythmogenic right ventricular dysplasia 8 (AD) Keratosis palmoplantaris striata II (AD) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (AD) Skin fragility-woolly hair syndrome (AR) Epidermolysis bullosa, lethal acantholytic (AR) Cardiomyopathy, dilated, with woolly hair and keratoderma (AR) | Arrhythmogenic Right Ventricular Cardiomyopathy |
DST | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency (AR) | |
DSTYK | Spastic paraplegia 23 (AR) Congenital anomalies of kidney and urinary tract 1 (AD) | |
DTNA | Left ventricular noncompaction 1, with or without congenital heart defects (AD) | |
DUOX2 | Thyroid dyshormonogenesis 6 (AR) | |
DUOXA2 | Thyroid dyshormonogenesis 5 (AR) | |
DVL1 | Robinow syndrome, autosomal dominant 2 (AD) | Autosomal Dominant Robinow Syndrome |
DVL3 | Robinow syndrome, autosomal dominant 3 (AD) | Autosomal Dominant Robinow Syndrome |
DYM | Smith-McCort dysplasia (AR) Dyggve-Melchior-Clausen disease (AR) | |
DYNC1H1 | Spinal muscular atrophy, lower extremity-predominant 1, AD (AD) Charcot-Marie-Tooth disease, axonal, type 20 (AD) Mental retardation, autosomal dominant 13 (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly (AR) | |
DYRK1A | Mental retardation, autosomal dominant 7 (AD) | DYRK1A Syndrome |
DYSF | Muscular dystrophy, limb-girdle, autosomal recessive 2 (AR) Miyoshi muscular dystrophy 1 (AR) Myopathy, distal, with anterior tibial onset (AR) | Dysferlinopathy |
EARS2 | Combined oxidative phosphorylation deficiency 12 (AR) | |
EBF3 | Hypotonia, ataxia, and delayed development syndrome (AD) | EBF3 Neurodevelopmental Disorder |
EBP | Chondrodysplasia punctata, X-linked dominant (XLD) MEND syndrome (XLR) | Chondrodysplasia Punctata 2, X-Linked |
ECEL1 | Arthrogryposis, distal, type 5D (AR) | |
ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (AR) | Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency |
EDA | Ectodermal dysplasia 1, hypohidrotic, X-linked (XLR) Tooth agenesis, selective, X-linked 1 (XLD) | Hypohidrotic Ectodermal Dysplasia |
EDAR | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (AR) Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (AD) | Hypohidrotic Ectodermal Dysplasia |
EDARADD | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant (AD) | Hypohidrotic Ectodermal Dysplasia |
EDN3 | Waardenburg syndrome, type 4B (AR) Waardenburg syndrome, type 4B (AD) | |
EDNRA | Mandibulofacial dysostosis with alopecia (AD) | |
EDNRB | ABCD syndrome (AR) Waardenburg syndrome, type 4A (AR) Waardenburg syndrome, type 4A (AD) | |
EED | Cohen-Gibson syndrome (AD) | EED-Related Overgrowth |
EEF1A2 | Mental retardation, autosomal dominant 38 (AD) Developmental and epileptic encephalopathy 33 (AD) | |
EFEMP2 | Cutis laxa, autosomal recessive, type IB (AR) | EFEMP2-Related Cutis Laxa |
EFHC1 | {Myoclonic epilepsy, juvenile, susceptibility to, 1} (AD) | |
EFNB1 | Craniofrontonasal dysplasia (XLD) | |
EFTUD2 | Mandibulofacial dysostosis, Guion-Almeida type (AD) | Mandibulofacial Dysostosis with Microcephaly |
EGR2 | Dejerine-Sottas disease (AD) Charcot-Marie-Tooth disease, type 1D (AD) Hypomyelinating neuropathy, congenital, 1 (AD) Dejerine-Sottas disease (AR) Hypomyelinating neuropathy, congenital, 1 (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
EHMT1 | Kleefstra syndrome 1 (AD) | Kleefstra Syndrome |
EIF2AK3 | Wolcott-Rallison syndrome (AR) | |
EIF2B1 | Leukoencephalopathy with vanishing white matter (AR) | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B2 | Leukoencephalopathy with vanishing white matter (AR) Ovarioleukodystrophy (AR) | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B3 | Leukoencephalopathy with vanishing white matter (AR) | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B4 | Ovarioleukodystrophy (AR) Leukoencephalopathy with vanishing white matter (AR) | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2B5 | Ovarioleukodystrophy (AR) Leukoencephalopathy with vanishing white matter (AR) | Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter |
EIF2S3 | MEHMO syndrome (XLR) | |
EIF4A3 | Robin sequence with cleft mandible and limb anomalies (AR) | |
ELANE | Neutropenia, cyclic (AD) Neutropenia, severe congenital 1, autosomal dominant (AD) | ELANE-Related Neutropenia |
ELMO2 | Vascular malformation, primary intraosseous (AR) | |
ELN | Cutis laxa, autosomal dominant (AD) Supravalvar aortic stenosis (AD) | Williams Syndrome |
ELOVL4 | Ichthyosis, spastic quadriplegia, and mental retardation (AR) Spinocerebellar ataxia 34 (AD) Stargardt disease 3 (AD) | |
ELP1 | Dysautonomia, familial (AR) Medulloblastoma, 155255 (3) (AR) | Familial Dysautonomia |
ELP2 | Intellectual developmental disorder, autosomal recessive 58 (AR) | |
EMC1 | Cerebellar atrophy, visual impairment, and psychomotor retardation (AR) | |
EMC10 | Neurodevelopmental disorder with dysmorphic facies and variable seizures (AR) | |
EMD | Emery-Dreifuss muscular dystrophy 1, X-linked (XLR) | Emery-Dreifuss Muscular Dystrophy |
EMG1 | Bowen-Conradi syndrome (AR) | |
EMX2 | |
ENG | Telangiectasia, hereditary hemorrhagic, type 1 (AD) | Hereditary Hemorrhagic Telangiectasia |
ENPP1 | Hypophosphatemic rickets, autosomal recessive, 2 (AR) Arterial calcification, generalized, of infancy, 1 (AR) {Diabetes mellitus, non-insulin-dependent, susceptibility to} (AD) Cole disease (AD) | Generalized Arterial Calcification of Infancy |
ENTPD1 | Spastic paraplegia 64, autosomal recessive (AR) | |
EOGT | Adams-Oliver syndrome 4 (AR) | Adams-Oliver Syndrome |
EPB42 | |
EPCAM | Diarrhea 5, with tufting enteropathy, congenital (AR) | Lynch Syndrome |
EPG5 | Vici syndrome (AR) | |
EPHB4 | Capillary malformation-arteriovenous malformation 2 (AD) Lymphatic malformation 7 (AD) | Capillary Malformation-Arteriovenous Malformation Syndrome |
EPM2A | Epilepsy, progressive myoclonic 2A (Lafora) (AR) | Progressive Myoclonus Epilepsy, Lafora Type |
EPRS1 | Leukodystrophy, hypomyelinating, 15 (AR) | |
ERCC1 | Cerebrooculofacioskeletal syndrome 4 (AR) | Xeroderma Pigmentosum |
ERCC2 | Xeroderma pigmentosum, group D (AR) Trichothiodystrophy 1, photosensitive (AR) | Xeroderma Pigmentosum |
ERCC3 | Trichothiodystrophy 2, photosensitive (AR) Xeroderma pigmentosum, group B (AR) | Xeroderma Pigmentosum |
ERCC4 | Xeroderma pigmentosum, type F/Cockayne syndrome (AR) XFE progeroid syndrome (AR) Xeroderma pigmentosum, group F (AR) Fanconi anemia, complementation group Q (AR) | Xeroderma Pigmentosum Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
ERCC5 | Xeroderma pigmentosum, group G (AR) Cerebrooculofacioskeletal syndrome 3 (AR) Xeroderma pigmentosum, group G/Cockayne syndrome (AR) | Xeroderma Pigmentosum |
ERCC6 | UV-sensitive syndrome 1 (AR) Cerebrooculofacioskeletal syndrome 1 (AR) Cockayne syndrome, type B (AR) | Cockayne Syndrome |
ERCC6L2 | Bone marrow failure syndrome 2 (AR) | |
ERCC8 | UV-sensitive syndrome 2 (AR) Cockayne syndrome, type A (AR) | Cockayne Syndrome |
ERF | Craniosynostosis 4 (AD) Chitayat syndrome (AD) | |
ERLIN1 | Spastic paraplegia 62 (AR) | |
ERLIN2 | Spastic paraplegia 18, autosomal recessive (AR) | |
ESCO2 | Juberg-Hayward syndrome (AR) Roberts-SC phocomelia syndrome (AR) | ESCO2 Spectrum Disorder |
ESRRB | Deafness, autosomal recessive 35 (AR) | Hereditary Hearing Loss and Deafness Overview |
ETFA | Glutaric acidemia IIA (AR) | Multiple Acyl-CoA Dehydrogenase Deficiency |
ETFB | Glutaric acidemia IIB (AR) | Multiple Acyl-CoA Dehydrogenase Deficiency |
ETFDH | Glutaric acidemia IIC (AR) | Multiple Acyl-CoA Dehydrogenase Deficiency |
ETHE1 | Ethylmalonic encephalopathy (AR) | Ethylmalonic Encephalopathy |
EVC | |
EVC2 | Ellis-van Creveld syndrome (AR) Weyers acrofacial dysostosis (AD) | |
EXOC3L2 | |
EXOSC3 | Pontocerebellar hypoplasia, type 1B (AR) | EXOSC3 Pontocerebellar Hypoplasia |
EXOSC8 | Pontocerebellar hypoplasia, type 1C (AR) | |
EXOSC9 | Pontocerebellar hypoplasia, type 1D (AR) | |
EXPH5 | Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive (AR) | Epidermolysis Bullosa Simplex |
EXT1 | Exostoses, multiple, type 1 (AD) | Hereditary Multiple Osteochondromas Trichorhinophalangeal Syndrome |
EXT2 | Exostoses, multiple, type 2 (AD) Seizures, scoliosis, and macrocephaly syndrome (AR) | Hereditary Multiple Osteochondromas |
EXTL3 | Immunoskeletal dysplasia with neurodevelopmental abnormalities (AR) | |
EYA1 | Branchiootic syndrome 1 (AD) Branchiootorenal syndrome 1, with or without cataracts (AD) Anterior segment anomalies with or without cataract (AD) | Branchiootorenal Spectrum Disorder |
EYA4 | Deafness, autosomal dominant 10 (AD) | Dilated Cardiomyopathy Overview Hereditary Hearing Loss and Deafness Overview |
EZH2 | Weaver syndrome (AD) | EZH2-Related Overgrowth |
F10 | Factor X deficiency (AR) | |
F11 | Factor XI deficiency, autosomal recessive (AR) | |
F13A1 | Factor XIIIA deficiency (AR) | |
F2 | Hypoprothrombinemia (AR) Dysprothrombinemia (AR) Thrombophilia 1 due to thrombin defect (AD) | Prothrombin Thrombophilia |
F7 | Factor VII deficiency (AR) | |
F8 | Thrombophilia 13 (XLR) Hemophilia A (XLR) | Hemophilia A |
F9 | Hemophilia B (XLR) Thrombophilia 8, X-linked, due to factor IX defect (XLR) | Hemophilia B |
FA2H | Spastic paraplegia 35, autosomal recessive (AR) | Fatty Acid Hydroxylase-Associated Neurodegeneration Neurodegeneration with Brain Iron Accumulation Disorders Overview |
FADD | Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction (AR) | |
FAH | Tyrosinemia, type I (AR) | |
FAM111A | Kenny-Caffey syndrome, type 2 (AD) Gracile bone dysplasia (AD) | |
FAM126A | Leukodystrophy, hypomyelinating, 5 (AR) | Hypomyelination and Congenital Cataract |
FAM149B1 | Joubert syndrome 36 (AR) | |
FAM161A | |
FAM20A | Amelogenesis imperfecta, type IG (enamel-renal syndrome) (AR) | |
FAM20C | Raine syndrome (AR) | |
FAM58A | |
FANCA | Fanconi anemia, complementation group A (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCB | Fanconi anemia, complementation group B (XLR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCC | Fanconi anemia, complementation group C (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCD2 | Fanconi anemia, complementation group D2 (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCE | Fanconi anemia, complementation group E (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCF | Fanconi anemia, complementation group F (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCG | Fanconi anemia, complementation group G (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCI | Fanconi anemia, complementation group I (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCL | Fanconi anemia, complementation group L (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FANCM | Spermatogenic failure 28 (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
FAR1 | Peroxisomal fatty acyl-CoA reductase 1 disorder (AR) | |
FARS2 | Combined oxidative phosphorylation deficiency 14 (AR) Spastic paraplegia 77, autosomal recessive (AR) | FARS2 Deficiency |
FASTKD2 | Combined oxidative phosphorylation deficiency 44 (AR) | |
FAT4 | Van Maldergem syndrome 2 (AR) Hennekam lymphangiectasia-lymphedema syndrome 2 (AR) | |
FBLN5 | Cutis laxa, autosomal recessive, type IA (AR) Macular degeneration, age-related, 3 (AD) Neuropathy, hereditary, with or without age-related macular degeneration (AD) | FBLN5-Related Cutis Laxa |
FBN1 | Geleophysic dysplasia 2 (AD) Weill-Marchesani syndrome 2, dominant (AD) Ectopia lentis, familial (AD) MASS syndrome (AD) Marfan lipodystrophy syndrome (AD) Acromicric dysplasia (AD) Marfan syndrome (AD) Stiff skin syndrome (AD) | Weill-Marchesani Syndrome Heritable Thoracic Aortic Disease Overview FBN1-Related Marfan Syndrome Geleophysic Dysplasia |
FBN2 | Macular degeneration, early-onset (AD) Contractural arachnodactyly, congenital (AD) | Congenital Contractural Arachnodactyly |
FBP1 | Fructose-1,6-bisphosphatase deficiency (AR) | Fructose-1,6-Bisphosphatase Deficiency |
FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (AR) | FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome |
FBXO11 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (AD) | |
FBXW11 | Neurodevelopmental, jaw, eye, and digital syndrome (AD) | |
FCSK | Congenital disorder of glycosylation with defective fucosylation 2 (AR) | |
FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia (AR) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
FGA | Afibrinogenemia, congenital (AR) Amyloidosis, familial visceral (AD) | |
FGB | Hypofibrinogenemia, congenital (AR) Afibrinogenemia, congenital (AR) | |
FGD1 | Mental retardation, X-linked syndromic 16 (XLR) Aarskog-Scott syndrome (XLR) | |
FGD4 | Charcot-Marie-Tooth disease, type 4H (AR) | |
FGF10 | Aplasia of lacrimal and salivary glands (AD) LADD syndrome (AD) | |
FGF12 | Developmental and epileptic encephalopathy 47 (AD) | Brugada Syndrome |
FGF3 | Deafness, congenital with inner ear agenesis, microtia, and microdontia (AR) | Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia |
FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia (AD) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Holoprosencephaly Overview |
FGF9 | Multiple synostoses syndrome 3 (AD) | |
FGFR1 | Pfeiffer syndrome (AD) Hypogonadotropic hypogonadism 2 with or without anosmia (AD) Jackson-Weiss syndrome (AD) Hartsfield syndrome (AD) Trigonocephaly 1 (AD) Osteoglophonic dysplasia (AD) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency FGFR Craniosynostosis Syndromes Overview FGFR1-Related Hartsfield Syndrome Encephalocraniocutaneous Lipomatosis |
FGFR2 | Bent bone dysplasia syndrome (AD) LADD syndrome (AD) Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (AD) Jackson-Weiss syndrome (AD) Craniofacial-skeletal-dermatologic dysplasia (AD) Apert syndrome (AD) Pfeiffer syndrome (AD) Beare-Stevenson cutis gyrata syndrome (AD) Crouzon syndrome (AD) Saethre-Chotzen syndrome (AD) | FGFR Craniosynostosis Syndromes Overview Apert Syndrome |
FGFR3 | Muenke syndrome (AD) SADDAN (AD) Hypochondroplasia (AD) LADD syndrome (AD) Thanatophoric dysplasia, type II (AD) CATSHL syndrome (AD) Thanatophoric dysplasia, type I (AD) Achondroplasia (AD) Crouzon syndrome with acanthosis nigricans (AD) | Achondroplasia Thanatophoric Dysplasia Muenke Syndrome FGFR Craniosynostosis Syndromes Overview Hypochondroplasia |
FGG | Hypofibrinogenemia, congenital (AR) Afibrinogenemia, congenital (AR) | |
FH | Fumarase deficiency (AR) | FH Tumor Predisposition Syndrome Fumarate Hydratase Deficiency |
FHL1 | Myopathy, X-linked, with postural muscle atrophy (XLR) Emery-Dreifuss muscular dystrophy 6, X-linked (XLR) Reducing body myopathy, X-linked 1b, with late childhood or adult onset (XLR) Scapuloperoneal myopathy, X-linked dominant (XLD) Reducing body myopathy, X-linked 1b, with late childhood or adult onset (XLD) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (XLD) | Emery-Dreifuss Muscular Dystrophy |
FKBP10 | Osteogenesis imperfecta, type XI (AR) Bruck syndrome 1 (AR) | |
FKBP14 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (AR) | FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome |
FKRP | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (AR) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (AR) | |
FKTN | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (AR) Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 (AR) Cardiomyopathy, dilated, 1X (AR) | Fukuyama Congenital Muscular Dystrophy |
FLAD1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (AR) | |
FLCN | Birt-Hogg-Dube syndrome (AD) Pneumothorax, primary spontaneous (AD) | Birt-Hogg-Dube Syndrome Potocki-Lupski Syndrome |
FLNA | Intestinal pseudoobstruction, neuronal (XLR) Cardiac valvular dysplasia, X-linked (XLR) Congenital short bowel syndrome (XLR) Frontometaphyseal dysplasia 1 (XLR) Otopalatodigital syndrome, type II (XLD) Cardiac valvular dysplasia, X-linked (XLD) Melnick-Needles syndrome (XLD) Terminal osseous dysplasia (XLD) Otopalatodigital syndrome, type I (XLD) Heterotopia, periventricular, 1 (XLD) | FLNA Deficiency X-Linked Otopalatodigital Spectrum Disorders |
FLNB | Spondylocarpotarsal synostosis syndrome (AR) Larsen syndrome (AD) Atelosteogenesis, type I (AD) Atelosteogenesis, type III (AD) Boomerang dysplasia (AD) | FLNB Disorders |
FLT4 | Lymphatic malformation 1 (AD) Congenital heart defects, multiple types, 7 (AD) | Milroy Disease |
FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa (AR) | |
FLVCR2 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (AR) | |
FMN2 | Intellectual developmental disorder, autosomal recessive 47 (AR) | |
FMR1 | Fragile X tremor/ataxia syndrome (XLD) Fragile X syndrome (XLD) Premature ovarian failure 1 (XLD) | FMR1 Disorders |
FN1 | Spondylometaphyseal dysplasia, corner fracture type (AD) Glomerulopathy with fibronectin deposits 2 (AD) | Spondylometaphyseal Dysplasia, Corner Fracture Type |
FOLR1 | Neurodegeneration due to cerebral folate transport deficiency (AR) | |
FOXC1 | Axenfeld-Rieger syndrome, type 3 (AD) Anterior segment dysgenesis 3, multiple subtypes (AD) | |
FOXC2 | Lymphedema-distichiasis syndrome (AD) Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus (AD) | Lymphedema-Distichiasis Syndrome |
FOXE3 | Anterior segment dysgenesis 2, multiple subtypes (AR) | Heritable Thoracic Aortic Disease Overview |
FOXF1 | Alveolar capillary dysplasia with misalignment of pulmonary veins (AD) | |
FOXG1 | Rett syndrome, congenital variant (AD) | |
FOXL2 | Blepharophimosis, epicanthus inversus, and ptosis, type 2 (AD) Blepharophimosis, epicanthus inversus, and ptosis, type 1 (AD) Premature ovarian failure 3 (AD) | Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome |
FOXN1 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy (AR) T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (AD) | |
FOXP1 | Mental retardation with language impairment and with or without autistic features (AD) | |
FOXP3 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (XLR) | IPEX Syndrome |
FOXRED1 | Mitochondrial complex I deficiency, nuclear type 19 (AR) | |
FRAS1 | Fraser syndrome 1 (AR) | |
FREM1 | Manitoba oculotrichoanal syndrome (AR) Bifid nose with or without anorectal and renal anomalies (AR) Trigonocephaly 2 (AD) | FREM1 Autosomal Recessive Disorders |
FREM2 | Fraser syndrome 2 (AR) Cryptophthalmos, unilateral or bilateral, isolated (AR) | |
FRMPD4 | Intellectual developmental disorder, X-linked 104 (XLR) | |
FRRS1L | Developmental and epileptic encephalopathy 37 (AR) | |
FTCD | Glutamate formiminotransferase deficiency (AR) | |
FTL | Hyperferritinemia-cataract syndrome (AD) L-ferritin deficiency, dominant and recessive (AD) Neurodegeneration with brain iron accumulation 3 (AD) L-ferritin deficiency, dominant and recessive (AR) | Neuroferritinopathy Neurodegeneration with Brain Iron Accumulation Disorders Overview |
FTSJ1 | Intellectual developmental disorder, X-linked 9 (XLR) | |
FUCA1 | Fucosidosis (AR) | |
FUT8 | Congenital disorder of glycosylation with defective fucosylation 1 (AR) | |
FXN | Friedreich ataxia with retained reflexes (AR) Friedreich ataxia (AR) | Friedreich Ataxia |
G6PC | |
G6PC3 | Dursun syndrome (AR) Neutropenia, severe congenital 4, autosomal recessive (AR) | G6PC3 Deficiency |
G6PD | |
GAA | Glycogen storage disease II (AR) | Pompe Disease |
GABBR2 | Developmental and epileptic encephalopathy 59 (AD) Neurodevelopmental disorder with poor language and loss of hand skills (AD) | |
GABRA1 | Developmental and epileptic encephalopathy 19 (AD) | |
GABRB1 | Developmental and epileptic encephalopathy 45 (AD) | |
GABRB2 | Developmental and epileptic encephalopathy 92 (AD) | |
GABRB3 | Developmental and epileptic encephalopathy 43 (AD) | Prader-Willi Syndrome |
GABRG2 | Developmental and epileptic encephalopathy 74 (AD) Febrile seizures, familial, 8 (AD) Generalized epilepsy with febrile seizures plus, type 3 (AD) | |
GAD1 | Developmental and epileptic encephalopathy 89 (AR) | |
GALC | Krabbe disease (AR) | Krabbe Disease |
GALE | Galactose epimerase deficiency (AR) | Epimerase Deficiency Galactosemia |
GALK1 | Galactokinase deficiency with cataracts (AR) | |
GALNS | Mucopolysaccharidosis IVA (AR) | Mucopolysaccharidosis Type IVA |
GALT | Galactosemia (AR) | Classic Galactosemia and Clinical Variant Galactosemia Duarte Variant Galactosemia |
GAMT | Cerebral creatine deficiency syndrome 2 (AR) | Creatine Deficiency Disorders |
GAN | Giant axonal neuropathy-1 (AR) | GAN-Related Neurodegeneration |
GAS8 | Ciliary dyskinesia, primary, 33 (AR) | |
GATA1 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia (XLR) Anemia, X-linked, with/without neutropenia and/or platelet abnormalities (XLR) Thrombocytopenia with beta-thalassemia, X-linked (XLR) | GATA1-Related X-Linked Cytopenia Diamond-Blackfan Anemia Congenital Erythropoietic Porphyria |
GATA2 | Emberger syndrome (AD) Immunodeficiency 21 (AD) | |
GATA3 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia (AD) | |
GATA4 | Tetralogy of Fallot (AD) Atrial septal defect 2 (AD) Ventricular septal defect 1 (AD) Atrioventricular septal defect 4 (AD) | |
GATA6 | Atrial septal defect 9 (AD) Pancreatic agenesis and congenital heart defects (AD) Atrioventricular septal defect 5 (AD) Tetralogy of Fallot (AD) | |
GATAD2B | GAND syndrome (AD) | |
GATM | Cerebral creatine deficiency syndrome 3 (AR) Fanconi renotubular syndrome 1 (AD) | Creatine Deficiency Disorders |
GBA | Gaucher disease, type II (AR) Gaucher disease, type IIIC (AR) Gaucher disease, type III (AR) Gaucher disease, type I (AR) Gaucher disease, perinatal lethal (AR) | Gaucher Disease |
GBA2 | Spastic paraplegia 46, autosomal recessive (AR) | |
GBE1 | Glycogen storage disease IV (AR) Polyglucosan body disease, adult form (AR) | GBE1 Adult Polyglucosan Body Disease Glycogen Storage Disease Type IV |
GCDH | Glutaricaciduria, type I (AR) | Glutaric Acidemia Type I |
GCH1 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (AR) Hyperphenylalaninemia, BH4-deficient, B (AR) | GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
GCK | MODY, type II (AD) Hyperinsulinemic hypoglycemia, familial, 3 (AD) Diabetes mellitus, noninsulin-dependent, late onset (AD) Diabetes mellitus, permanent neonatal 1 (AR) | Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
GDAP1 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (AR) Charcot-Marie-Tooth disease, recessive intermediate, A (AR) Charcot-Marie-Tooth disease, axonal, type 2K (AR) Charcot-Marie-Tooth disease, type 4A (AR) Charcot-Marie-Tooth disease, axonal, type 2K (AD) | GDAP1-Related Hereditary Motor and Sensory Neuropathy |
GDF1 | Right atrial isomerism (Ivemark) (AR) Congenital heart defects, multiple types, 6 (AD) | |
GDF3 | Microphthalmia with coloboma 6 (AD) Microphthalmia, isolated 7 (AD) | |
GDF5 | Acromesomelic dysplasia 2A (AR) Acromesomelic dysplasia 2B (AR) Brachydactyly, type A1, C (AR) Multiple synostoses syndrome 2 (AD) Symphalangism, proximal, 1B (AD) Brachydactyly, type A2 (AD) Brachydactyly, type C (AD) Brachydactyly, type A1, C (AD) | |
GDF6 | Leber congenital amaurosis 17 (AR) Microphthalmia with coloboma 6, digenic (AD) Multiple synostoses syndrome 4 (AD) Klippel-Feil syndrome 1, autosomal dominant (AD) | |
GDI1 | Intellectual developmental disorder, X-linked 41 (XLD) | |
GEMIN4 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (AR) | |
GFAP | Alexander disease (AD) | Alexander Disease |
GFER | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (AR) | |
GFM1 | Combined oxidative phosphorylation deficiency 1 (AR) | |
GFM2 | Combined oxidative phosphorylation deficiency 39 (AR) | |
GFPT1 | Myasthenia, congenital, 12, with tubular aggregates (AR) | Congenital Myasthenic Syndromes Overview |
GHR | Laron dwarfism (AR) Increased responsiveness to growth hormone (AD) Growth hormone insensitivity, partial (AD) | |
GIPC3 | Deafness, autosomal recessive 15 (AR) | |
GJA1 | Erythrokeratodermia variabilis et progressiva 3 (AD) Oculodentodigital dysplasia (AD) Palmoplantar keratoderma with congenital alopecia (AD) Syndactyly, type III (AD) Atrioventricular septal defect 3 (AD) Craniometaphyseal dysplasia, autosomal recessive (AR) Hypoplastic left heart syndrome 1 (AR) Oculodentodigital dysplasia, autosomal recessive (AR) | |
GJA8 | Cataract 1, multiple types (AD) | 1q21.1 Recurrent Microdeletion |
GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (XLD) | GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes |
GJB2 | Deafness, autosomal recessive 1A (AR) | Nonsyndromic Hearing Loss and Deafness, DFNB1 Hereditary Hearing Loss and Deafness Overview Nonsyndromic Hearing Loss and Deafness, DFNA3 |
GJB3 | Deafness, digenic, GJB2/GJB3 (AR) Erythrokeratodermia variabilis et progressiva 1 (AR) Deafness, autosomal dominant 2B (AD) Erythrokeratodermia variabilis et progressiva 1 (AD) | Hereditary Hearing Loss and Deafness Overview |
GJC2 | Leukodystrophy, hypomyelinating, 2 (AR) Lymphatic malformation 3 (AD) | Pelizaeus-Merzbacher-Like Disease 1 |
GK | Glycerol kinase deficiency (XLR) | NR0B1-Related Adrenal Hypoplasia Congenita |
GLA | Fabry disease, cardiac variant (XLR) Fabry disease (XLR) | Fabry Disease |
GLB1 | GM1-gangliosidosis, type I (AR) GM1-gangliosidosis, type III (AR) Mucopolysaccharidosis type IVB (Morquio) (AR) GM1-gangliosidosis, type II (AR) | GLB1-Related Disorders |
GLDC | Glycine encephalopathy (AR) | Nonketotic Hyperglycinemia |
GLDN | Lethal congenital contracture syndrome 11 (AR) | |
GLE1 | Lethal congenital contracture syndrome 1 (AR) Congenital arthrogryposis with anterior horn cell disease (AR) | |
GLI2 | Culler-Jones syndrome (AD) Holoprosencephaly 9 (AD) | Holoprosencephaly Overview |
GLI3 | Greig cephalopolysyndactyly syndrome (AD) Polydactyly, postaxial, types A1 and B (AD) Pallister-Hall syndrome (AD) Polydactyly, preaxial, type IV (AD) | Greig Cephalopolysyndactyly Syndrome Pallister-Hall Syndrome Esophageal Atresia/Tracheoesophageal Fistula Overview |
GLIS2 | |
GLIS3 | Diabetes mellitus, neonatal, with congenital hypothyroidism (AR) | |
GLMN | Glomuvenous malformations (AD) | |
GLRA1 | Hyperekplexia 1 (AD) | Hereditary Hyperekplexia Overview |
GLRX5 | Anemia, sideroblastic, 3, pyridoxine-refractory (AR) Spasticity, childhood-onset, with hyperglycinemia (AR) | |
GLUD1 | Hyperinsulinism-hyperammonemia syndrome (AD) | Familial Hyperinsulinism |
GLUL | Glutamine deficiency, congenital (AR) | |
GLYCTK | D-glyceric aciduria (AR) | |
GM2A | GM2-gangliosidosis, AB variant (AR) | |
GMNN | Meier-Gorlin syndrome 6 (AD) | |
GMPPA | Alacrima, achalasia, and mental retardation syndrome (AR) | |
GMPPB | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (AR) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (AR) | Congenital Myasthenic Syndromes Overview |
GNA11 | Hypocalciuric hypercalcemia, type II (AD) Hypocalcemia, autosomal dominant 2 (AD) | |
GNAI3 | Auriculocondylar syndrome 1 (AD) | |
GNAO1 | Developmental and epileptic encephalopathy 17 (AD) Neurodevelopmental disorder with involuntary movements (AD) | |
GNAQ | |
GNAS | Pseudohypoparathyroidism Ic (AD) Pseudohypoparathyroidism Ia (AD) Osseous heteroplasia, progressive (AD) Pseudohypoparathyroidism Ib (AD) Pseudopseudohypoparathyroidism (AD) | Fibrous Dysplasia/McCune-Albright Syndrome Disorders of GNAS Inactivation |
GNB1 | Intellectual developmental disorder, autosomal dominant 42 (AD) | GNB1 Encephalopathy |
GNB5 | Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (AR) Intellectual developmental disorder with cardiac arrhythmia (AR) | GNB5-Related Neurodevelopmental Disorder |
GNE | Nonaka myopathy (AR) | GNE Myopathy |
GNPAT | Rhizomelic chondrodysplasia punctata, type 2 (AR) | |
GNPTAB | Mucolipidosis III alpha/beta (AR) Mucolipidosis II alpha/beta (AR) | GNPTAB-Related Disorders |
GNPTG | Mucolipidosis III gamma (AR) | Mucolipidosis III Gamma |
GNS | Mucopolysaccharidosis type IIID (AR) | Mucopolysaccharidosis Type III |
GOLGA2 | |
GORAB | Geroderma osteodysplasticum (AR) | |
GOSR2 | Epilepsy, progressive myoclonic 6 (AR) | |
GOT2 | Developmental and epileptic encephalopathy 82 (AR) | |
GPAA1 | Glycosylphosphatidylinositol biosynthesis defect 15 (AR) | |
GPC3 | Simpson-Golabi-Behmel syndrome, type 1 (XLR) | Simpson-Golabi-Behmel Syndrome Type 1 Wilms Tumor Predisposition |
GPC6 | Omodysplasia 1 (AR) | |
GPHN | Molybdenum cofactor deficiency C (AR) | Molybdenum Cofactor Deficiency |
GPR143 | Ocular albinism, type I, Nettleship-Falls type (XLR) Nystagmus 6, congenital, X-linked (XLR) | |
GPR56 | |
GPR98 | |
GPSM2 | Chudley-McCullough syndrome (AR) | |
GPT2 | Neurodevelopmental disorder with microcephaly and spastic paraplegia (AR) | |
GPX4 | Spondylometaphyseal dysplasia, Sedaghatian type (AR) | |
GREB1L | Deafness, autosomal dominant 80 (AD) Renal hypodysplasia/aplasia 3 (AD) | |
GRHL2 | Ectodermal dysplasia/short stature syndrome (AR) Deafness, autosomal dominant 28 (AD) Corneal dystrophy, posterior polymorphous, 4 (AD) | Hereditary Hearing Loss and Deafness Overview |
GRHL3 | van der Woude syndrome 2 (AD) | |
GRHPR | Hyperoxaluria, primary, type II (AR) | Primary Hyperoxaluria Type 2 |
GRIA2 | Neurodevelopmental disorder with language impairment and behavioral abnormalities (AD) | |
GRIA3 | Intellectual developmental disorder, X-linked, syndromic, Wu type (XLR) | |
GRID2 | Spinocerebellar ataxia, autosomal recessive 18 (AR) | |
GRIK2 | Intellectual developmental disorder, autosomal recessive 6 (AR) | |
GRIN1 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (AR) Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (AD) | GRIN1-Related Neurodevelopmental Disorder |
GRIN2A | Epilepsy, focal, with speech disorder and with or without impaired intellectual development (AD) | GRIN2A-Related Speech Disorders and Epilepsy |
GRIN2B | Developmental and epileptic encephalopathy 27 (AD) Intellectual developmental disorder, autosomal dominant 6, with or without seizures (AD) | GRIN2B-Related Neurodevelopmental Disorder |
GRIN2D | Developmental and epileptic encephalopathy 46 (AD) | |
GRIP1 | Fraser syndrome 3 (AR) | |
GRM1 | Spinocerebellar ataxia, autosomal recessive 13 (AR) Spinocerebellar ataxia 44 (AD) | |
GRM7 | Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities (AR) | |
GSS | Hemolytic anemia due to glutathione synthetase deficiency (AR) Glutathione synthetase deficiency (AR) | |
GTF2H5 | |
GTPBP3 | Combined oxidative phosphorylation deficiency 23 (AR) | |
GUCY2C | Meconium ileus (AR) Diarrhea 6 (AD) | |
GUF1 | |
GUSB | Mucopolysaccharidosis VII (AR) | |
GYS1 | Glycogen storage disease 0, muscle (AR) | |
GYS2 | Glycogen storage disease 0, liver (AR) | |
GZF1 | Joint laxity, short stature, and myopia (AR) | |
H1-4 | Rahman syndrome (AD) | HIST1H1E Syndrome |
HACD1 | |
HACE1 | Spastic paraplegia and psychomotor retardation with or without seizures (AR) | |
HADH | Hyperinsulinemic hypoglycemia, familial, 4 (AR) 3-hydroxyacyl-CoA dehydrogenase deficiency (AR) | Familial Hyperinsulinism |
HADHA | HELLP syndrome, maternal, of pregnancy (AR) Mitochondrial trifunctional protein deficiency (AR) LCHAD deficiency (AR) Fatty liver, acute, of pregnancy (AR) | |
HADHB | Trifunctional protein deficiency (AR) | |
HARS1 | Usher syndrome type 3B (AR) Charcot-Marie-Tooth disease, axonal, type 2W (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
HAX1 | Neutropenia, severe congenital 3, autosomal recessive (AR) | |
HBA1 | Thalassemias, alpha- (AR) Heinz body anemias, alpha- (AD) Methemoglobinemia, alpha type (AD) Erythrocytosis 7 (AD) | Alpha-Thalassemia |
HBA2 | Hemoglobin H disease, deletional and nondeletional (AR) Heinz body anemia (AD) Erythrocytosis 7 (AD) | Alpha-Thalassemia |
HBB | Sickle cell anemia (AR) Methemoglobinemia, beta type (AD) Thalassemia-beta, dominant inclusion-body (AD) Delta-beta thalassemia (AD) Hereditary persistence of fetal hemoglobin (AD) Heinz body anemia (AD) Erythrocytosis 6 (AD) | Sickle Cell Disease Beta-Thalassemia |
HCCS | Linear skin defects with multiple congenital anomalies 1 (XLD) | Microphthalmia with Linear Skin Defects Syndrome |
HCFC1 | Methylmalonic aciduria and homocysteinemia, cblX type (XLR) | Disorders of Intracellular Cobalamin Metabolism |
HCN1 | Developmental and epileptic encephalopathy 24 (AD) Generalized epilepsy with febrile seizures plus, type 10 (AD) | |
HDAC4 | |
HDAC8 | Cornelia de Lange syndrome 5 (XLD) | Cornelia de Lange Syndrome |
HECW2 | Neurodevelopmental disorder with hypotonia, seizures, and absent language (AD) | |
HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts 2A (AR) Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation (AD) | Megalencephalic Leukoencephalopathy with Subcortical Cysts |
HERC2 | Intellectual developmental disorder, autosomal recessive 38 (AR) [Skin/hair/eye pigmentation 1, blond/brown hair] (AR) [Skin/hair/eye pigmentation 1, blue/nonblue eyes] (AR) | Prader-Willi Syndrome |
HESX1 | Pituitary hormone deficiency, combined, 5 (AR) Septooptic dysplasia (AR) Growth hormone deficiency with pituitary anomalies (AR) Pituitary hormone deficiency, combined, 5 (AD) Septooptic dysplasia (AD) Growth hormone deficiency with pituitary anomalies (AD) | |
HEXA | [Hex A pseudodeficiency] (AR) GM2-gangliosidosis, several forms (AR) Tay-Sachs disease (AR) | HEXA Disorders |
HEXB | Sandhoff disease, infantile, juvenile, and adult forms (AR) | |
HGD | Alkaptonuria (AR) | Alkaptonuria |
HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C) (AR) Retinitis pigmentosa 73 (AR) | Mucopolysaccharidosis Type III |
HIBCH | 3-hydroxyisobutryl-CoA hydrolase deficiency (AR) | |
HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
HIVEP2 | Mental retardation, autosomal dominant 43 (AD) | |
HK1 | Neuropathy, hereditary motor and sensory, Russe type (AR) Hemolytic anemia due to hexokinase deficiency (AR) Retinitis pigmentosa 79 (AD) Neurodevelopmental disorder with visual defects and brain anomalies (AD) | |
HLCS | Holocarboxylase synthetase deficiency (AR) | |
HMGCL | HMG-CoA lyase deficiency (AR) | |
HMGCS2 | HMG-CoA synthase-2 deficiency (AR) | |
HMX1 | Oculoauricular syndrome (AR) | |
HNF1B | Type 2 diabetes mellitus (AD) Renal cysts and diabetes syndrome (AD) | 17q12 Recurrent Deletion Syndrome Maturity-Onset Diabetes of the Young Overview |
HNF4A | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (AD) MODY, type I (AD) | Familial Hyperinsulinism Maturity-Onset Diabetes of the Young Overview |
HNRNPH2 | Intellectual developmental disorder, X-linked, syndromic, Bain type (XLD) | |
HNRNPK | Au-Kline syndrome (AD) | Au-Kline Syndrome |
HNRNPU | Developmental and epileptic encephalopathy 54 (AD) | HNRNPU-Related Neurodevelopmental Disorder |
HOXA1 | Bosley-Salih-Alorainy syndrome (AR) Athabaskan brainstem dysgenesis syndrome (AR) | |
HOXA13 | Hand-foot-uterus syndrome (AD) | Hand-Foot-Genital Syndrome |
HOXC13 | Ectodermal dysplasia 9, hair/nail type (AR) | |
HOXD13 | Syndactyly, type V (AD) Synpolydactyly 1 (AD) Brachydactyly, type E (AD) Brachydactyly, type D (AD) | |
HPD | Tyrosinemia, type III (AR) Hawkinsinuria (AD) | |
HPDL | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (AR) Spastic paraplegia 83, autosomal recessive (AR) | |
HPGD | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 (AR) Cranioosteoarthropathy (AR) | |
HPRT1 | Hyperuricemia, HRPT-related (XLR) Lesch-Nyhan syndrome (XLR) | HPRT1 Disorders |
HPS1 | Hermansky-Pudlak syndrome 1 (AR) | Hermansky-Pudlak Syndrome |
HPS3 | Hermansky-Pudlak syndrome 3 (AR) | Hermansky-Pudlak Syndrome |
HPS4 | Hermansky-Pudlak syndrome 4 (AR) | Hermansky-Pudlak Syndrome |
HPS5 | Hermansky-Pudlak syndrome 5 (AR) | Hermansky-Pudlak Syndrome |
HPSE2 | Urofacial syndrome 1 (AR) | Urofacial Syndrome |
HRAS | Congenital myopathy with excess of muscle spindles (AD) Costello syndrome (AD) | Costello Syndrome |
HSD11B2 | Apparent mineralocorticoid excess (AR) | |
HSD17B10 | HSD10 mitochondrial disease (XLD) | |
HSD17B3 | Pseudohermaphroditism, male, with gynecomastia (AR) | |
HSD17B4 | D-bifunctional protein deficiency (AR) Perrault syndrome 1 (AR) | Perrault Syndrome |
HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (AR) | |
HSD3B7 | Bile acid synthesis defect, congenital, 1 (AR) | |
HSPA9 | Even-plus syndrome (AR) | |
HSPB8 | Neuronopathy, distal hereditary motor, type IIA (AD) Charcot-Marie-Tooth disease, axonal, type 2L (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
HSPD1 | Leukodystrophy, hypomyelinating, 4 (AR) Spastic paraplegia 13, autosomal dominant (AD) | |
HSPG2 | Dyssegmental dysplasia, Silverman-Handmaker type (AR) Schwartz-Jampel syndrome, type 1 (AR) | |
HTRA1 | CARASIL syndrome (AR) | HTRA1 Disorder |
HUWE1 | Intellectual developmental disorder, X-linked, Turner type (XLD) | |
HYAL1 | |
HYDIN | Ciliary dyskinesia, primary, 5 (AR) | Primary Ciliary Dyskinesia |
HYLS1 | Hydrolethalus syndrome (AR) | |
IARS1 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (AR) | |
IARS2 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (AR) | |
IBA57 | Multiple mitochondrial dysfunctions syndrome 3 (AR) | |
ICOS | Immunodeficiency, common variable, 1 (AR) | |
IDS | Mucopolysaccharidosis II (XLR) | Mucopolysaccharidosis Type II |
IDUA | Mucopolysaccharidosis Is (AR) Mucopolysaccharidosis Ih/s (AR) Mucopolysaccharidosis Ih (AR) | Mucopolysaccharidosis Type I |
IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome (AR) | |
IFIH1 | Aicardi-Goutieres syndrome 7 (AD) Singleton-Merten syndrome 1 (AD) | Aicardi-Goutieres Syndrome |
IFITM5 | Osteogenesis imperfecta, type V (AD) | |
IFNGR2 | Immunodeficiency 28, mycobacteriosis (AR) | |
IFT122 | Cranioectodermal dysplasia 1 (AR) | Cranioectodermal Dysplasia |
IFT140 | Short-rib thoracic dysplasia 9 with or without polydactyly (AR) Retinitis pigmentosa 80 (AR) | Cranioectodermal Dysplasia |
IFT172 | Retinitis pigmentosa 71 (AR) Bardet-Biedl syndrome 20 (AR) Short-rib thoracic dysplasia 10 with or without polydactyly (AR) | Joubert Syndrome Nephronophthisis |
IFT27 | Bardet-Biedl syndrome 19 (AR) | Bardet-Biedl Syndrome Overview |
IFT43 | ?Retinitis pigmentosa 81 (AR) Short-rib thoracic dysplasia 18 with polydactyly (AR) | Cranioectodermal Dysplasia |
IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly (AR) | |
IGF1 | Growth retardation with deafness and mental retardation due to IGF1 deficiency (AR) | |
IGF1R | Insulin-like growth factor I, resistance to (AR) Insulin-like growth factor I, resistance to (AD) | |
IGF2 | Silver-Russell syndrome 3 (AD) | Wilms Tumor Predisposition Silver-Russell Syndrome Beckwith-Wiedemann Syndrome |
IGFBP7 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (AR) | |
IGHMBP2 | Neuronopathy, distal hereditary motor, type VI (AR) Charcot-Marie-Tooth disease, axonal, type 2S (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
IGSF1 | Hypothyroidism, central, and testicular enlargement (XLR) | |
IHH | Acrocapitofemoral dysplasia (AR) Brachydactyly, type A1 (AD) | |
IKBKAP | |
IKBKB | Immunodeficiency 15B (AR) Immunodeficiency 15A (AD) | |
IKBKG | Incontinentia pigmenti (XLD) Ectodermal dysplasia and immunodeficiency 1 (XLR) Immunodeficiency 33 (XLR) | Incontinentia Pigmenti |
IL10RA | Inflammatory bowel disease 28, early onset, autosomal recessive (AR) | |
IL11RA | Craniosynostosis and dental anomalies (AR) | |
IL12RB1 | Immunodeficiency 30 (AR) | |
IL1RAPL1 | Intellectual developmental disorder, X-linked 21 (XLR) | NR0B1-Related Adrenal Hypoplasia Congenita |
IL21R | Immunodeficiency 56 (AR) | |
IL2RA | Immunodeficiency 41 with lymphoproliferation and autoimmunity (AR) | |
IL2RG | Combined immunodeficiency, X-linked, moderate (XLR) Severe combined immunodeficiency, X-linked (XLR) | X-Linked Severe Combined Immunodeficiency |
IL7R | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type (AR) | |
ILDR1 | Deafness, autosomal recessive 42 (AR) | |
IMPAD1 | |
INPP5E | Joubert syndrome 1 (AR) Mental retardation, truncal obesity, retinal dystrophy, and micropenis (AR) | Joubert Syndrome |
INPP5K | Muscular dystrophy, congenital, with cataracts and intellectual disability (AR) | |
INPPL1 | Opsismodysplasia (AR) | |
INS | Diabetes mellitus, permanent neonatal 4 (AR) Diabetes mellitus, insulin-dependent, 2 (AD) Maturity-onset diabetes of the young, type 10 (AD) Hyperproinsulinemia (AD) Diabetes mellitus, permanent neonatal 4 (AD) | Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
INSR | Rabson-Mendenhall syndrome (AR) Leprechaunism (AR) Hyperinsulinemic hypoglycemia, familial, 5 (AD) | INSR-Related Severe Syndromic Insulin Resistance |
INVS | Nephronophthisis 2, infantile (AR) | Nephronophthisis |
IPO8 | VISS syndrome (AR) | |
IQCB1 | Senior-Loken syndrome 5 (AR) | Nephronophthisis |
IQSEC1 | Intellectual developmental disorder with short stature and behavioral abnormalities (AR) | |
IQSEC2 | Intellectual developmental disorder, X-linked 1 (XLD) | |
IRAK4 | Immunodeficiency 67 (AR) | |
IRF6 | Popliteal pterygium syndrome 1 (AD) van der Woude syndrome 1 (AD) | IRF6-Related Disorders |
IRF8 | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive (AR) Immunodeficiency 32A, mycobacteriosis, autosomal dominant (AD) | |
IRX5 | Hamamy syndrome (AR) | |
ISCA2 | Multiple mitochondrial dysfunctions syndrome 4 (AR) | ISCA2-Related Mitochondrial Disorder |
ISPD | |
ITFG2 | |
ITGA3 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (AR) | |
ITGA6 | Epidermolysis bullosa, junctional, with pyloric stenosis (AR) | Epidermolysis Bullosa with Pyloric Atresia |
ITGA7 | Muscular dystrophy, congenital, due to ITGA7 deficiency (AR) | |
ITGA8 | Renal hypodysplasia/aplasia 1 (AR) | |
ITGB4 | Epidermolysis bullosa, junctional, with pyloric atresia (AR) Epidermolysis bullosa, junctional, non-Herlitz type (AR) Epidermolysis bullosa of hands and feet (AD) | Junctional Epidermolysis Bullosa Epidermolysis Bullosa with Pyloric Atresia |
ITK | Lymphoproliferative syndrome 1 (AR) | |
ITPA | Developmental and epileptic encephalopathy 35 (AR) | |
ITPR1 | Gillespie syndrome (AR) Gillespie syndrome (AD) Spinocerebellar ataxia 29, congenital nonprogressive (AD) Spinocerebellar ataxia 15 (AD) | Spinocerebellar Ataxia Type 15 |
IVD | Isovaleric acidemia (AR) | |
JAG1 | Charcot-Marie-Tooth disease, axonal, type 2HH (AD) Alagille syndrome 1 (AD) Tetralogy of Fallot (AD) | Alagille Syndrome |
JAGN1 | Neutropenia, severe congenital, 6, autosomal recessive (AR) | |
JAK3 | SCID, autosomal recessive, T-negative/B-positive type (AR) | |
JAM2 | Basal ganglia calcification, idiopathic, 8, autosomal recessive (AR) | |
JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts (AR) | |
JUP | Naxos disease (AR) | Arrhythmogenic Right Ventricular Cardiomyopathy |
KANK1 | |
KANSL1 | Koolen-De Vries syndrome (AD) | Koolen-de Vries Syndrome |
KARS | |
KARS1 | Deafness, autosomal recessive 89 (AR) Leukoencephalopathy, progressive, infantile-onset, with or without deafness (AR) Deafness, congenital, and adult-onset progressive leukoencephalopathy (AR) | |
KAT5 | |
KAT6A | Arboleda-Tham syndrome (AD) | |
KAT6B | SBBYSS syndrome (AD) Genitopatellar syndrome (AD) | KAT6B Disorders |
KAT8 | Li-Ghorgani-Weisz-Hubshman syndrome (AD) | |
KATNB1 | Lissencephaly 6, with microcephaly (AR) | |
KBTBD13 | Nemaline myopathy 6, autosomal dominant (AD) | |
KCNA1 | Episodic ataxia/myokymia syndrome (AD) | Episodic Ataxia Type 1 |
KCNA2 | Developmental and epileptic encephalopathy 32 (AD) | |
KCNB1 | Developmental and epileptic encephalopathy 26 (AD) | |
KCNC1 | Epilepsy, progressive myoclonic 7 (AD) | |
KCNC3 | Spinocerebellar ataxia 13 (AD) | Spinocerebellar Ataxia Type 13 |
KCNE1 | Jervell and Lange-Nielsen syndrome 2 (AR) | Long QT Syndrome Jervell and Lange-Nielsen Syndrome |
KCNH1 | Zimmermann-Laband syndrome 1 (AD) Temple-Baraitser syndrome (AD) | |
KCNJ1 | Bartter syndrome, type 2 (AR) | |
KCNJ10 | Enlarged vestibular aqueduct, digenic (AR) SESAME syndrome (AR) | Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct |
KCNJ11 | Hyperinsulinemic hypoglycemia, familial, 2 (AR) Diabetes, permanent neonatal 2, with or without neurologic features (AD) Maturity-onset diabetes of the young, type 13 (AD) Diabetes mellitus, transient neonatal 3 (AD) Hyperinsulinemic hypoglycemia, familial, 2 (AD) | Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
KCNJ2 | Atrial fibrillation, familial, 9 (AD) Andersen syndrome (AD) | Long QT Syndrome Andersen-Tawil Syndrome |
KCNJ6 | Keppen-Lubinsky syndrome (AD) | |
KCNMA1 | Cerebellar atrophy, developmental delay, and seizures (AR) Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (AD) Liang-Wang syndrome (AD) | |
KCNQ1 | Jervell and Lange-Nielsen syndrome (AR) | Long QT Syndrome Beckwith-Wiedemann Syndrome Jervell and Lange-Nielsen Syndrome |
KCNQ2 | Developmental and epileptic encephalopathy 7 (AD) Seizures, benign neonatal, 1 (AD) Myokymia (AD) | KCNQ2-Related Disorders |
KCNQ3 | Seizures, benign neonatal, 2 (AD) | KCNQ3-Related Disorders |
KCNQ4 | Deafness, autosomal dominant 2A (AD) | DFNA2 Nonsyndromic Hearing Loss Hereditary Hearing Loss and Deafness Overview |
KCNQ5 | Mental retardation, autosomal dominant 46 (AD) | |
KCNT1 | Developmental and epileptic encephalopathy 14 (AD) Epilepsy nocturnal frontal lobe, 5 (AD) | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNT1-Related Epilepsy |
KCTD1 | Scalp-ear-nipple syndrome (AD) | |
KCTD7 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (AR) | |
KDM5C | Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (XLR) | |
KDM6A | Kabuki syndrome 2 (XLD) | Kabuki Syndrome |
KIAA0586 | Short-rib thoracic dysplasia 14 with polydactyly (AR) Joubert syndrome 23 (AR) | Joubert Syndrome |
KIAA1109 | Alkuraya-Kucinskas syndrome (AR) | |
KIDINS220 | Spastic paraplegia, intellectual disability, nystagmus, and obesity (AD) | |
KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (AD) | |
KIF1A | Neuropathy, hereditary sensory, type IIC (AR) Spastic paraplegia 30, autosomal dominant (AR) Spastic paraplegia 30, autosomal recessive (AR) NESCAV syndrome (AD) Spastic paraplegia 30, autosomal dominant (AD) Spastic paraplegia 30, autosomal recessive (AD) | Hereditary Sensory and Autonomic Neuropathy Type II |
KIF1C | Spastic ataxia 2, autosomal recessive (AR) | |
KIF21A | Fibrosis of extraocular muscles, congenital, 3B (AD) Fibrosis of extraocular muscles, congenital, 1 (AD) | Congenital Fibrosis of the Extraocular Muscles Overview |
KIF22 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (AD) | |
KIF2A | Cortical dysplasia, complex, with other brain malformations 3 (AD) | |
KIF5C | Cortical dysplasia, complex, with other brain malformations 2 (AD) | |
KIF7 | Joubert syndrome 12 (AR) Acrocallosal syndrome (AR) ?Al-Gazali-Bakalinova syndrome (AR) | Joubert Syndrome |
KIFBP | Goldberg-Shprintzen megacolon syndrome (AR) | |
KIRREL3 | |
KIT | Gastrointestinal stromal tumor, familial (AD) Mastocytosis, cutaneous (AD) Piebaldism (AD) | |
KLF1 | Dyserythropoietic anemia, congenital, type IV (AD) | |
KLHL15 | Intellectual developmental disorder, X-linked 103 (XLR) | |
KLHL40 | Nemaline myopathy 8, autosomal recessive (AR) | |
KLHL41 | Nemaline myopathy 9 (AR) | |
KLHL7 | PERCHING syndrome (AR) | Nonsyndromic Retinitis Pigmentosa Overview |
KMT2A | Wiedemann-Steiner syndrome (AD) | |
KMT2B | Dystonia 28, childhood-onset (AD) | KMT2B-Related Dystonia |
KMT2C | Kleefstra syndrome 2 (AD) | |
KMT2D | Kabuki syndrome 1 (AD) | Kabuki Syndrome |
KMT2E | O'Donnell-Luria-Rodan syndrome (AD) | |
KMT5B | Mental retardation, autosomal dominant 51 (AD) | |
KNL1 | Microcephaly 4, primary, autosomal recessive (AR) | |
KPTN | Mental retardation, autosomal recessive 41 (AR) | |
KRAS | Noonan syndrome 3 (AD) RAS-associated autoimmune leukoproliferative disorder (AD) Cardiofaciocutaneous syndrome 2 (AD) | Noonan Syndrome Cardiofaciocutaneous Syndrome Encephalocraniocutaneous Lipomatosis |
KRIT1 | Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations (AD) Cerebral cavernous malformations-1 (AD) Cavernous malformations of CNS and retina (AD) | Cerebral Cavernous Malformation, Famiilial |
KRT10 | Epidermolytic hyperkeratosis (AR) Epidermolytic hyperkeratosis (AD) Ichthyosis with confetti (AD) Ichthyosis, cyclic, with epidermolytic hyperkeratosis (AD) | |
KRT14 | Epidermolysis bullosa simplex 1C, localized (AD) Dermatopathia pigmentosa reticularis (AD) Epidermolysis bullosa simplex 1A, generalized severe (AD) Naegeli-Franceschetti-Jadassohn syndrome (AD) Epidermolysis bullosa simplex 1B, generalized intermediate (AD) | Epidermolysis Bullosa Simplex |
KRT16 | Palmoplantar keratoderma, nonepidermolytic, focal (AD) Pachyonychia congenita 1 (AD) | Pachyonychia Congenita |
KRT17 | Steatocystoma multiplex (AD) Pachyonychia congenita 2 (AD) | Pachyonychia Congenita |
KRT5 | Epidermolysis bullosa simplex 2A, generalized severe (AD) Dowling-Degos disease 1 (AD) Epidermolysis bullosa simplex 2F, with mottled pigmentation (AD) Epidermolysis bullosa simplex 2B, generalized intermediate (AD) Epidermolysis bullosa simplex 2C, localized (AD) Epidermolysis bullosa simplex 2E, with migratory circinate erythema (AD) | Epidermolysis Bullosa Simplex |
KRT6A | Pachyonychia congenita 3 (AD) | Pachyonychia Congenita |
KRT8 | Cirrhosis, cryptogenic (AR) | |
L1CAM | MASA syndrome (XLR) Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (XLR) Corpus callosum, partial agenesis of (XLR) CRASH syndrome (XLR) Hydrocephalus with Hirschsprung disease (XLR) Hydrocephalus due to aqueductal stenosis (XLR) | L1 Syndrome |
L2HGDH | L-2-hydroxyglutaric aciduria (AR) | |
LAMA1 | Poretti-Boltshauser syndrome (AR) | |
LAMA2 | Muscular dystrophy, limb-girdle, autosomal recessive 23 (AR) Muscular dystrophy, congenital, merosin deficient or partially deficient (AR) | LAMA2 Muscular Dystrophy |
LAMA3 | Laryngoonychocutaneous syndrome (AR) Epidermolysis bullosa, junctional, Herlitz type (AR) Epidermolysis bullosa, generalized atrophic benign (AR) | Junctional Epidermolysis Bullosa |
LAMB1 | Lissencephaly 5 (AR) | |
LAMB2 | Pierson syndrome (AR) | Congenital Myasthenic Syndromes Overview |
LAMB3 | Epidermolysis bullosa, junctional, non-Herlitz type (AR) Epidermolysis bullosa, junctional, Herlitz type (AR) | Junctional Epidermolysis Bullosa |
LAMC2 | Epidermolysis bullosa, junctional, non-Herlitz type (AR) Epidermolysis bullosa, junctional, Herlitz type (AR) | Junctional Epidermolysis Bullosa |
LAMC3 | Cortical malformations, occipital (AR) | |
LAMP2 | Danon disease (XLD) | Danon Disease |
LARGE | |
LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 (AR) | |
LARP7 | Alazami syndrome (AR) | |
LARS2 | Perrault syndrome 4 (AR) Hydrops, lactic acidosis, and sideroblastic anemia (AR) | Perrault Syndrome |
LAS1L | Wilson-Turner syndrome (XLR) | |
LBR | Greenberg skeletal dysplasia (AR) Pelger-Huet anomaly (AD) | |
LDB3 | Left ventricular noncompaction 3 (AD) Cardiomyopathy, hypertrophic, 24 (AD) Myopathy, myofibrillar, 4 (AD) Cardiomyopathy, dilated, 1C, with or without LVNC (AD) | Dilated Cardiomyopathy Overview |
LDLR | LDL cholesterol level QTL2 (AD) Hypercholesterolemia, familial, 1 (AD) | Familial Hypercholesterolemia |
LEMD3 | Buschke-Ollendorff syndrome (AD) Osteopoikilosis with or without melorheostosis (AD) | |
LEPR | Obesity, morbid, due to leptin receptor deficiency (AR) | |
LETM1 | |
LFNG | Spondylocostal dysostosis 3, autosomal recessive (AR) | Spondylocostal Dysostosis, Autosomal Recessive |
LGI4 | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (AR) | |
LHFPL5 | Deafness, autosomal recessive 67 (AR) | Hereditary Hearing Loss and Deafness Overview |
LHX3 | Pituitary hormone deficiency, combined, 3 (AR) | |
LHX4 | Pituitary hormone deficiency, combined, 4 (AD) | |
LIAS | Hyperglycinemia, lactic acidosis, and seizures (AR) | |
LIFR | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome (AR) | |
LIG4 | LIG4 syndrome (AR) | |
LINS1 | Intellectual developmental disorder, autosomal recessive 27 (AR) | |
LIPA | Wolman disease (AR) Cholesteryl ester storage disease (AR) | Lysosomal Acid Lipase Deficiency |
LIPT1 | Lipoyltransferase 1 deficiency (AR) | |
LITAF | Charcot-Marie-Tooth disease, type 1C (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type (AR) | Disorders of Intracellular Cobalamin Metabolism |
LMNA | Heart-hand syndrome, Slovenian type (AD) Cardiomyopathy, dilated, 1A (AD) Emery-Dreifuss muscular dystrophy 2, autosomal dominant (AD) Hutchinson-Gilford progeria (AD) Lipodystrophy, familial partial, type 2 (AD) Muscular dystrophy, congenital (AD) Malouf syndrome (AD) Mandibuloacral dysplasia (AR) Restrictive dermopathy, lethal (AR) Emery-Dreifuss muscular dystrophy 3, autosomal recessive (AR) Charcot-Marie-Tooth disease, type 2B1 (AR) | Hutchinson-Gilford Progeria Syndrome Dilated Cardiomyopathy Overview Charcot-Marie-Tooth Hereditary Neuropathy Overview Emery-Dreifuss Muscular Dystrophy LMNA-Related Dilated Cardiomyopathy |
LMOD3 | Nemaline myopathy 10 (AR) | |
LMX1B | Focal segmental glomerulosclerosis 10 (AD) Nail-patella syndrome (AD) | Nail-Patella Syndrome |
LONP1 | CODAS syndrome (AR) | |
LOXHD1 | Deafness, autosomal recessive 77 (AR) | Hereditary Hearing Loss and Deafness Overview |
LPIN2 | |
LRBA | Immunodeficiency, common variable, 8, with autoimmunity (AR) | |
LRP2 | Donnai-Barrow syndrome (AR) | Donnai-Barrow Syndrome |
LRP4 | Sclerosteosis 2 (AR) Cenani-Lenz syndactyly syndrome (AR) Sclerosteosis 2 (AD) | Congenital Myasthenic Syndromes Overview |
LRP5 | Osteopetrosis, autosomal dominant 1 (AD) [Bone mineral density variability 1] (AD) Hyperostosis, endosteal (AD) Osteosclerosis (AD) Polycystic liver disease 4 with or without kidney cysts (AD) Exudative vitreoretinopathy 4 (AD) Osteoporosis-pseudoglioma syndrome (AR) Exudative vitreoretinopathy 4 (AR) | |
LRPPRC | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (AR) | |
LRRC56 | Ciliary dyskinesia, primary, 39 (AR) | |
LRRC6 | |
LRSAM1 | Charcot-Marie-Tooth disease, axonal, type 2P (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
LRTOMT | Deafness, autosomal recessive 63 (AR) | Hereditary Hearing Loss and Deafness Overview |
LTBP2 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (AR) | Weill-Marchesani Syndrome Primary Congenital Glaucoma |
LTBP3 | Dental anomalies and short stature (AR) Geleophysic dysplasia 3 (AD) | Geleophysic Dysplasia |
LTBP4 | Cutis laxa, autosomal recessive, type IC (AR) | LTBP4-Related Cutis Laxa |
LYRM7 | Mitochondrial complex III deficiency, nuclear type 8 (AR) | |
LYST | Chediak-Higashi syndrome (AR) | Chediak-Higashi Syndrome |
LZTFL1 | Bardet-Biedl syndrome 17 (AR) | Bardet-Biedl Syndrome Overview |
LZTR1 | Noonan syndrome 2 (AR) Noonan syndrome 10 (AD) | Noonan Syndrome Schwannomatosis |
MAB21L2 | Microphthalmia/coloboma and skeletal dysplasia syndrome (AR) Microphthalmia/coloboma and skeletal dysplasia syndrome (AD) | |
MACF1 | Lissencephaly 9 with complex brainstem malformation (AD) | |
MAF | Cataract 21, multiple types (AD) Ayme-Gripp syndrome (AD) | Ayme-Gripp Syndrome |
MAFB | Duane retraction syndrome 3 (AD) Multicentric carpotarsal osteolysis syndrome (AD) | Duane Syndrome |
MAG | Spastic paraplegia 75, autosomal recessive (AR) | |
MAGEL2 | Schaaf-Yang syndrome (AD) | Prader-Willi Syndrome Schaaf-Yang Syndrome |
MAGI2 | |
MAGT1 | Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XLR) Congenital disorder of glycosylation, type Icc (XLR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MALT1 | Immunodeficiency 12 (AR) | |
MAMLD1 | Hypospadias 2, X-linked (XLR) | |
MAN1B1 | Rafiq syndrome (AR) | |
MAN2B1 | Mannosidosis, alpha-, types I and II (AR) | Alpha-Mannosidosis |
MANBA | Mannosidosis, beta (AR) | |
MAOA | Brunner syndrome (XLR) | |
MAP1B | Periventricular nodular heterotopia 9 (AD) | |
MAP2K1 | Cardiofaciocutaneous syndrome 3 (AD) | Noonan Syndrome Cardiofaciocutaneous Syndrome Noonan Syndrome with Multiple Lentigines |
MAP2K2 | Cardiofaciocutaneous syndrome 4 (AD) | Cardiofaciocutaneous Syndrome |
MAP3K1 | 46XY sex reversal 6 (AD) | Nonsyndromic Disorders of Testicular Development |
MAP3K7 | Frontometaphyseal dysplasia 2 (AD) Cardiospondylocarpofacial syndrome (AD) | |
MAPK8IP3 | Neurodevelopmental disorder with or without variable brain abnormalities (AD) | |
MAPRE2 | Symmetric circumferential skin creases, congenital, 2 (AD) | |
MARS1 | Interstitial lung and liver disease (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
MARVELD2 | Deafness, autosomal recessive 49 (AR) | Hereditary Hearing Loss and Deafness Overview |
MASP1 | 3MC syndrome 1 (AR) | |
MAT1A | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency (AR) Methionine adenosyltransferase deficiency, autosomal recessive (AR) Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency (AD) Methionine adenosyltransferase deficiency, autosomal recessive (AD) | |
MATN3 | Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (AR) Epiphyseal dysplasia, multiple, 5 (AD) | Multiple Epiphyseal Dysplasia, Dominant |
MBD5 | Mental retardation, autosomal dominant 1 (AD) | MBD5 Haploinsufficiency |
MBOAT7 | Intellectual developmental disorder, autosomal recessive 57 (AR) | |
MBTPS2 | Keratosis follicularis spinulosa decalvans, X-linked (XLR) Osteogenesis imperfecta, type XIX (XLR) IFAP syndrome with or without BRESHECK syndrome (XLR) | |
MC2R | Glucocorticoid deficiency, due to ACTH unresponsiveness (AR) | |
MCEE | Methylmalonyl-CoA epimerase deficiency (AR) | Isolated Methylmalonic Acidemia |
MCFD2 | |
MCOLN1 | Mucolipidosis IV (AR) | Mucolipidosis IV |
MCPH1 | Microcephaly 1, primary, autosomal recessive (AR) | |
MDH2 | Developmental and epileptic encephalopathy 51 (AR) | |
MECOM | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (AD) | |
MECP2 | Rett syndrome, atypical (XLD) Rett syndrome (XLD) Rett syndrome, preserved speech variant (XLD) Intellectual developmental disorder, X-linked, syndromic 13 (XLR) Encephalopathy, neonatal severe (XLR) Intellectual developmental disorder, X-linked syndromic, Lubs type (XLR) | MECP2 Duplication Syndrome MECP2 Disorders |
MECR | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (AR) | MECR-Related Neurologic Disorder |
MED12 | Lujan-Fryns syndrome (XLR) Ohdo syndrome, X-linked (XLR) Opitz-Kaveggia syndrome (XLR) | MED12-Related Disorders |
MED13 | Intellectual developmental disorder 61 (AD) | |
MED13L | Impaired intellectual development and distinctive facial features with or without cardiac defects (AD) | |
MED17 | Microcephaly, postnatal progressive, with seizures and brain atrophy (AR) | |
MED23 | Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy (AR) | |
MED25 | Basel-Vanagait-Smirin-Yosef syndrome (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
MEF2C | Chromosome 5q14.3 deletion syndrome (AD) Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (AD) | |
MEFV | Familial Mediterranean fever, AR (AR) | Familial Mediterranean Fever |
MEGF10 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant (AR) Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (AR) | |
MEGF8 | Carpenter syndrome 2 (AR) | |
MEIS2 | Cleft palate, cardiac defects, and mental retardation (AD) | |
MEN1 | Multiple endocrine neoplasia 1 (AD) | Multiple Endocrine Neoplasia Type 1 |
MEOX1 | Klippel-Feil syndrome 2 (AR) | |
MESP2 | Spondylocostal dysostosis 2, autosomal recessive (AR) | Spondylocostal Dysostosis, Autosomal Recessive |
METTL5 | Intellectual developmental disorder, autosomal recessive 72 (AR) | |
MFN2 | Charcot-Marie-Tooth disease, axonal, type 2A2A (AD) Hereditary motor and sensory neuropathy VIA (AD) Charcot-Marie-Tooth disease, axonal, type 2A2B (AR) | MFN2 Hereditary Motor and Sensory Neuropathy |
MFRP | Microphthalmia, isolated 5 (AR) | |
MFSD2A | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities (AR) | |
MFSD8 | Macular dystrophy with central cone involvement (AR) Ceroid lipofuscinosis, neuronal, 7 (AR) | |
MGAT2 | Congenital disorder of glycosylation, type IIa (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MGME1 | Mitochondrial DNA depletion syndrome 11 (AR) | |
MGP | Keutel syndrome (AR) | |
MICU1 | Myopathy with extrapyramidal signs (AR) | |
MID1 | Opitz GBBB syndrome, type I (XLR) | X-Linked Opitz G/BBB Syndrome Esophageal Atresia/Tracheoesophageal Fistula Overview |
MIPEP | Combined oxidative phosphorylation deficiency 31 (AR) | |
MIR17HG | |
MITF | Waardenburg syndrome, type 2A (AD) Tietz albinism-deafness syndrome (AD) COMMAD syndrome (AR) | |
MKKS | McKusick-Kaufman syndrome (AR) Bardet-Biedl syndrome 6 (AR) | Bardet-Biedl Syndrome Overview McKusick-Kaufman Syndrome |
MKS1 | Bardet-Biedl syndrome 13 (AR) Meckel syndrome 1 (AR) Joubert syndrome 28 (AR) | Joubert Syndrome Bardet-Biedl Syndrome Overview |
MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts (AR) | Megalencephalic Leukoencephalopathy with Subcortical Cysts |
MLPH | Griscelli syndrome, type 3 (AR) | |
MLYCD | Malonyl-CoA decarboxylase deficiency (AR) | |
MMAA | Methylmalonic aciduria, vitamin B12-responsive, cblA type (AR) | Isolated Methylmalonic Acidemia |
MMAB | Methylmalonic aciduria, vitamin B12-responsive, cblB type (AR) | Isolated Methylmalonic Acidemia |
MMACHC | Methylmalonic aciduria and homocystinuria, cblC type (AR) | Disorders of Intracellular Cobalamin Metabolism |
MMADHC | Methylmalonic aciduria, cblD type, variant 2 (AR) Methylmalonic aciduria and homocystinuria, cblD type (AR) Homocystinuria, cblD type, variant 1 (AR) | Isolated Methylmalonic Acidemia Disorders of Intracellular Cobalamin Metabolism |
MMP13 | Metaphyseal dysplasia, Spahr type (AR) Metaphyseal anadysplasia 1 (AD) | |
MMP21 | Heterotaxy, visceral, 7, autosomal (AR) | |
MMUT | Methylmalonic aciduria, mut(0) type (AR) | Isolated Methylmalonic Acidemia |
MN1 | CEBALID syndrome (AD) Meningioma (AD) | MN1 C-Terminal Truncation Syndrome |
MNX1 | Currarino syndrome (AD) | |
MOCS1 | Molybdenum cofactor deficiency A (AR) | Molybdenum Cofactor Deficiency |
MOCS2 | Molybdenum cofactor deficiency B (AR) | Molybdenum Cofactor Deficiency |
MOGS | Congenital disorder of glycosylation, type IIb (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MORC2 | Charcot-Marie-Tooth disease, axonal, type 2Z (AD) Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
MPDU1 | Congenital disorder of glycosylation, type If (AR) | |
MPDZ | Hydrocephalus, congenital, 2, with or without brain or eye anomalies (AR) | |
MPI | Congenital disorder of glycosylation, type Ib (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
MPL | Thrombocytopenia, congenital amegakaryocytic (AR) | |
MPLKIP | Trichothiodystrophy 4, nonphotosensitive (AR) | |
MPV17 | Charcot-Marie-Tooth disease, axonal, type 2EE (AR) Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect |
MPZ | Charcot-Marie-Tooth disease, type 2I (AD) Dejerine-Sottas disease (AD) Charcot-Marie-Tooth disease, type 1B (AD) Roussy-Levy syndrome (AD) Charcot-Marie-Tooth disease, dominant intermediate D (AD) Hypomyelinating neuropathy, congenital, 2 (AD) Charcot-Marie-Tooth disease, type 2J (AD) Dejerine-Sottas disease (AR) | |
MRPL3 | Combined oxidative phosphorylation deficiency 9 (AR) | |
MRPL44 | Combined oxidative phosphorylation deficiency 16 (AR) | |
MRPS2 | Combined oxidative phosphorylation deficiency 36 (AR) | |
MRPS22 | Ovarian dysgenesis 7 (AR) Combined oxidative phosphorylation deficiency 5 (AR) | |
MRPS34 | Combined oxidative phosphorylation deficiency 32 (AR) | |
MSL3 | Basilicata-Akhtar syndrome (XLD) | |
MSMO1 | Microcephaly, congenital cataract, and psoriasiform dermatitis (AR) | |
MSX1 | Tooth agenesis, selective, 1, with or without orofacial cleft (AD) Ectodermal dysplasia 3, Witkop type (AD) Orofacial cleft 5 (AD) | |
MSX2 | Parietal foramina with cleidocranial dysplasia (AD) Craniosynostosis 2 (AD) Parietal foramina 1 (AD) | Enlarged Parietal Foramina |
MTFMT | Combined oxidative phosphorylation deficiency 15 (AR) Mitochondrial complex I deficiency, nuclear type 27 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
MTM1 | Myotubular myopathy, X-linked (XLR) | X-Linked Myotubular Myopathy |
MTO1 | Combined oxidative phosphorylation deficiency 10 (AR) | |
MTOR | Smith-Kingsmore syndrome (AD) | |
MTR | Homocystinuria-megaloblastic anemia, cblG complementation type (AR) | Disorders of Intracellular Cobalamin Metabolism |
MTRR | Homocystinuria-megaloblastic anemia, cbl E type (AR) | Disorders of Intracellular Cobalamin Metabolism |
MTTP | Abetalipoproteinemia (AR) | Abetalipoproteinemia |
MUSK | Fetal akinesia deformation sequence 1 (AR) Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (AR) | Congenital Myasthenic Syndromes Overview |
MUT | |
MUTYH | Adenomas, multiple colorectal (AR) | MUTYH Polyposis |
MVK | Hyper-IgD syndrome (AR) Mevalonic aciduria (AR) Porokeratosis 3, multiple types (AD) | |
MYBPC1 | Lethal congenital contracture syndrome 4 (AR) Myopathy, congenital, with tremor (AD) Arthrogryposis, distal, type 1B (AD) | |
MYBPC3 | Cardiomyopathy, hypertrophic, 4 (AR) | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
MYCN | Feingold syndrome 1 (AD) | Esophageal Atresia/Tracheoesophageal Fistula Overview Feingold Syndrome 1 |
MYD88 | Immunodeficiency 68 (AR) | |
MYH14 | Deafness, autosomal dominant 4A (AD) | Hereditary Hearing Loss and Deafness Overview |
MYH2 | Proximal myopathy and ophthalmoplegia (AR) | |
MYH3 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A (AD) Arthrogryposis, distal, type 2B3 (Sheldon-Hall) (AD) Arthrogryposis, distal, type 2A (Freeman-Sheldon) (AD) Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (AR) | |
MYH6 | Cardiomyopathy, dilated, 1EE (AD) Cardiomyopathy, hypertrophic, 14 (AD) | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
MYH7 | Laing distal myopathy (AD) Cardiomyopathy, hypertrophic, 1 (AD) Left ventricular noncompaction 5 (AD) Cardiomyopathy, dilated, 1S (AD) Scapuloperoneal syndrome, myopathic type (AD) Myopathy, myosin storage, autosomal dominant (AD) Myopathy, myosin storage, autosomal recessive (AR) | Laing Distal Myopathy Hypertrophic Cardiomyopathy Overview |
MYH8 | Trismus-pseudocamptodactyly syndrome (AD) | |
MYH9 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (AD) Deafness, autosomal dominant 17 (AD) | Hereditary Hearing Loss and Deafness Overview MYH9-Related Disease |
MYO15A | Deafness, autosomal recessive 3 (AR) | Hereditary Hearing Loss and Deafness Overview |
MYO18B | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism (AR) | |
MYO3A | Deafness, autosomal recessive 30 (AR) | Hereditary Hearing Loss and Deafness Overview |
MYO5A | Griscelli syndrome, type 1 (AR) | |
MYO5B | Diarrhea 2, with microvillus atrophy (AR) | |
MYO6 | Deafness, autosomal recessive 37 (AR) | Hereditary Hearing Loss and Deafness Overview |
MYO7A | Deafness, autosomal recessive 2 (AR) Usher syndrome, type 1B (AR) Deafness, autosomal dominant 11 (AD) | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
MYOD1 | Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (AR) | |
MYPN | Nemaline myopathy 11, autosomal recessive (AR) | |
MYT1L | Intellectual developmental disorder, autosomal dominant 39 (AD) | |
NAA10 | Microphthalmia, syndromic 1 (XLD) Microphthalmia, syndromic 1 (XLR) | |
NAA15 | Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities (AD) | |
NACC1 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (AD) | |
NADSYN1 | Vertebral, cardiac, renal, and limb defects syndrome 3 (AR) | |
NAGA | Schindler disease, type I (AR) Kanzaki disease (AR) Schindler disease, type III (AR) | |
NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B) (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview Mucopolysaccharidosis Type III |
NAGS | N-acetylglutamate synthase deficiency (AR) | Urea Cycle Disorders Overview |
NALCN | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (AR) Congenital contractures of the limbs and face, hypotonia, and developmental delay (AD) | |
NANS | Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (AR) | |
NARS1 | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive (AR) Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant (AD) | |
NARS2 | Combined oxidative phosphorylation deficiency 24 (AR) | |
NAXD | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (AR) | |
NAXE | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (AR) | |
NBAS | Short stature, optic nerve atrophy, and Pelger-Huet anomaly (AR) Infantile liver failure syndrome 2 (AR) | |
NBEA | Neurodevelopmental disorder with or without early-onset generalized epilepsy (AD) | |
NBN | Nijmegen breakage syndrome (AR) | Nijmegen Breakage Syndrome |
NCAPD3 | Microcephaly 22, primary, autosomal recessive (AR) | |
NCF1 | Chronic granulomatous disease 1, autosomal recessive (AR) | Williams Syndrome Chronic Granulomatous Disease |
NCF2 | Chronic granulomatous disease 2, autosomal recessive (AR) | Chronic Granulomatous Disease |
NCKAP1L | Immunodeficiency 72 with autoinflammation (AR) | |
NDE1 | Lissencephaly 4 (with microcephaly) (AR) | |
NDN | Prader-Willi syndrome (AD) | Prader-Willi Syndrome |
NDP | Norrie disease (XLR) | |
NDST1 | Mental retardation, autosomal recessive 46 (AR) | |
NDUFA1 | Mitochondrial complex I deficiency, nuclear type 12 (XLR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFA10 | Mitochondrial complex I deficiency, nuclear type 22 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFA11 | Mitochondrial complex I deficiency, nuclear type 14 (AR) | |
NDUFA12 | Mitochondrial complex I deficiency, nuclear type 23 (AR) | |
NDUFA13 | |
NDUFA2 | Mitochondrial complex I deficiency, nuclear type 13 (AR) | |
NDUFA6 | Mitochondrial complex I deficiency, nuclear type 33 (AR) | |
NDUFA9 | Mitochondrial complex I deficiency, nuclear type 26 (AR) | |
NDUFAF1 | Mitochondrial complex I deficiency, nuclear type 11 (AR) | |
NDUFAF2 | Mitochondrial complex I deficiency, nuclear type 10 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFAF3 | Mitochondrial complex I deficiency, nuclear type 18 (AR) | |
NDUFAF4 | Mitochondrial complex I deficiency, nuclear type 15 (AR) | |
NDUFAF5 | Mitochondrial complex I deficiency, nuclear type 16 (AR) | |
NDUFAF6 | Mitochondrial complex I deficiency, nuclear type 17 (AR) Fanconi renotubular syndrome 5 (AR) | |
NDUFAF8 | Mitochondrial complex I deficiency, nuclear type 34 (AR) | |
NDUFB3 | Mitochondrial complex I deficiency, nuclear type 25 (AR) | |
NDUFB8 | Mitochondrial complex I deficiency, nuclear type 32 (AR) | |
NDUFS1 | Mitochondrial complex I deficiency, nuclear type 5 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS2 | Mitochondrial complex I deficiency, nuclear type 6 (AR) | |
NDUFS3 | Mitochondrial complex I deficiency, nuclear type 8 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS4 | Mitochondrial complex I deficiency, nuclear type 1 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS6 | Mitochondrial complex I deficiency, nuclear type 9 (AR) | |
NDUFS7 | Mitochondrial complex I deficiency, nuclear type 3 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFS8 | Mitochondrial complex I deficiency, nuclear type 2 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFV1 | Mitochondrial complex I deficiency, nuclear type 4 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
NDUFV2 | Mitochondrial complex I deficiency, nuclear type 7 (AR) | |
NEB | Nemaline myopathy 2, autosomal recessive (AR) Arthrogryposis multiplex congenita 6 (AR) | |
NECAP1 | Developmental and epileptic encephalopathy 21 (AR) | |
NECTIN1 | Cleft lip/palate-ectodermal dysplasia syndrome (AR) Orofacial cleft 7 (AR) | |
NECTIN4 | Ectodermal dysplasia-syndactyly syndrome 1 (AR) | |
NEDD4L | Periventricular nodular heterotopia 7 (AD) | |
NEFL | Charcot-Marie-Tooth disease, type 1F (AD) Charcot-Marie-Tooth disease, dominant intermediate G (AD) Charcot-Marie-Tooth disease, type 2E (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
NEK8 | Renal-hepatic-pancreatic dysplasia 2 (AR) | Nephronophthisis |
NEMF | Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (AR) | |
NEU1 | Sialidosis, type II (AR) Sialidosis, type I (AR) | |
NEUROG3 | Diarrhea 4, malabsorptive, congenital (AR) | |
NEXMIF | Intellectual developmental disorder, X-linked 98 (XLD) | |
NF1 | Watson syndrome (AD) Leukemia, juvenile myelomonocytic (AD) Neurofibromatosis, familial spinal (AD) Neurofibromatosis, type 1 (AD) Neurofibromatosis-Noonan syndrome (AD) | Neurofibromatosis 1 Wilms Tumor Predisposition |
NF2 | Neurofibromatosis, type 2 (AD) | Neurofibromatosis 2 |
NFASC | Neurodevelopmental disorder with central and peripheral motor dysfunction (AR) | |
NFIA | Brain malformations with or without urinary tract defects (AD) | NFIA-Related Disorder |
NFIB | Macrocephaly, acquired, with impaired intellectual development (AD) | |
NFIX | Marshall-Smith syndrome (AD) Malan syndrome (AD) | |
NFKBIA | Ectodermal dysplasia and immunodeficiency 2 (AD) | |
NFU1 | Multiple mitochondrial dysfunctions syndrome 1 (AR) | |
NGF | Neuropathy, hereditary sensory and autonomic, type V (AR) | Congenital Insensitivity to Pain Overview |
NGLY1 | Congenital disorder of deglycosylation (AR) | NGLY1-Related Congenital Disorder of Deglycosylation |
NHEJ1 | |
NHLRC1 | Epilepsy, progressive myoclonic 2B (Lafora) (AR) | Progressive Myoclonus Epilepsy, Lafora Type |
NHP2 | Dyskeratosis congenita, autosomal recessive 2 (AR) | Dyskeratosis Congenita |
NHS | Cataract 40, X-linked (XLD) Nance-Horan syndrome (XLD) | |
NIPAL4 | Ichthyosis, congenital, autosomal recessive 6 (AR) | Autosomal Recessive Congenital Ichthyosis |
NIPBL | Cornelia de Lange syndrome 1 (AD) | Cornelia de Lange Syndrome |
NKX2-1 | Chorea, hereditary benign (AD) Choreoathetosis, hypothyroidism, and neonatal respiratory distress (AD) | NKX2-1-Related Disorders |
NKX2-6 | Conotruncal heart malformations (AR) | |
NKX3-2 | Spondylo-megaepiphyseal-metaphyseal dysplasia (AR) | |
NKX6-2 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (AR) | NKX6-2-Related Disorder |
NLRC4 | Autoinflammation with infantile enterocolitis (AD) | |
NLRP3 | CINCA syndrome (AD) Familial cold inflammatory syndrome 1 (AD) Keratoendothelitis fugax hereditaria (AD) Deafness, autosomal dominant 34, with or without inflammation (AD) Muckle-Wells syndrome (AD) | |
NMNAT1 | Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis (AR) Leber congenital amaurosis 9 (AR) | |
NNT | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency (AR) | |
NODAL | Heterotaxy, visceral, 5 (AD) | Holoprosencephaly Overview |
NOG | Symphalangism, proximal, 1A (AD) Brachydactyly, type B2 (AD) Stapes ankylosis with broad thumbs and toes (AD) Tarsal-carpal coalition syndrome (AD) Multiple synostoses syndrome 1 (AD) | |
NONO | Intellectual developmental disorder, X-linked syndromic 34 (XLR) | |
NOTCH1 | Adams-Oliver syndrome 5 (AD) Aortic valve disease 1 (AD) | Adams-Oliver Syndrome |
NOTCH2 | Alagille syndrome 2 (AD) Hajdu-Cheney syndrome (AD) | Alagille Syndrome |
NOTCH3 | Lateral meningocele syndrome (AD) Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (AD) | CADASIL Lateral Meningocele Syndrome |
NOVA2 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (AD) | |
NPC1 | Niemann-Pick disease, type C1 (AR) Niemann-Pick disease, type D (AR) | Niemann-Pick Disease Type C |
NPC2 | Niemann-pick disease, type C2 (AR) | Niemann-Pick Disease Type C |
NPHP1 | Joubert syndrome 4 (AR) Nephronophthisis 1, juvenile (AR) Senior-Loken syndrome-1 (AR) | Joubert Syndrome Nephronophthisis |
NPHP3 | Nephronophthisis 3 (AR) Renal-hepatic-pancreatic dysplasia 1 (AR) Meckel syndrome 7 (AR) | Nephronophthisis |
NPHP4 | Senior-Loken syndrome 4 (AR) Nephronophthisis 4 (AR) | Nephronophthisis |
NPHS1 | Nephrotic syndrome, type 1 (AR) | |
NPHS2 | Nephrotic syndrome, type 2 (AR) | |
NPR2 | Acromesomelic dysplasia 1, Maroteaux type (AR) Epiphyseal chondrodysplasia, Miura type (AD) Short stature with nonspecific skeletal abnormalities (AD) | |
NR0B1 | Adrenal hypoplasia, congenital (XLR) 46XY sex reversal 2, dosage-sensitive (XLR) | NR0B1-Related Adrenal Hypoplasia Congenita |
NR1H4 | Cholestasis, progressive familial intrahepatic, 5 (AR) | |
NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome (AD) | |
NR2F2 | 46,XX sex reversal 5 (AD) Congenital heart defects, multiple types, 4 (AD) | |
NR3C2 | Pseudohypoaldosteronism type I, autosomal dominant (AD) | |
NR5A1 | 46, XX sex reversal 4 (AD) Premature ovarian failure 7 (AD) 46XY sex reversal 3 (AD) Adrenocortical insufficiency (AD) Spermatogenic failure 8 (AD) | Nonsyndromic Disorders of Testicular Development |
NRXN1 | Pitt-Hopkins-like syndrome 2 (AR) | |
NSD1 | Sotos syndrome (AD) | Wilms Tumor Predisposition Sotos Syndrome |
NSDHL | CHILD syndrome (XLD) CK syndrome (XLR) | NSDHL-Related Disorders |
NSUN2 | Mental retardation, autosomal recessive 5 (AR) | |
NT5C2 | Spastic paraplegia 45, autosomal recessive (AR) | |
NT5C3A | Anemia, hemolytic, due to UMPH1 deficiency (AR) | |
NTNG2 | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (AR) | |
NTRK1 | Insensitivity to pain, congenital, with anhidrosis (AR) | NTRK1 Congenital Insensitivity to Pain with Anhidrosis Congenital Insensitivity to Pain Overview |
NTRK2 | Developmental and epileptic encephalopathy 58 (AD) Obesity, hyperphagia, and developmental delay (AD) | |
NUBPL | Mitochondrial complex I deficiency, nuclear type 21 (AR) | |
NUDT2 | |
NUP107 | Galloway-Mowat syndrome 7 (AR) Nephrotic syndrome, type 11 (AR) | |
NUP188 | Sandestig-Stefanova syndrome (AR) | |
NYX | Night blindness, congenital stationary (complete), 1A, X-linked (XLR) | X-Linked Congenital Stationary Night Blindness |
OBSL1 | 3-M syndrome 2 (AR) | Three M Syndrome |
OCA2 | [Skin/hair/eye pigmentation 1, blue/nonblue eyes] (AR) [Skin/hair/eye pigmentation 1, blond/brown hair] (AR) Albinism, brown oculocutaneous (AR) Albinism, oculocutaneous, type II (AR) | Prader-Willi Syndrome |
OCLN | Pseudo-TORCH syndrome 1 (AR) | |
OCRL | Dent disease 2 (XLR) Lowe syndrome (XLR) | Lowe Syndrome Dent Disease |
ODAPH | Amelogenesis imperfecta, type IIA4 (AR) | |
OFD1 | Orofaciodigital syndrome I (XLD) Simpson-Golabi-Behmel syndrome, type 2 (XLR) Joubert syndrome 10 (XLR) | Oral-Facial-Digital Syndrome Type I Joubert Syndrome |
OGDH | |
OPA1 | Optic atrophy plus syndrome (AD) Optic atrophy 1 (AD) Behr syndrome (AR) | Optic Atrophy Type 1 |
OPA3 | 3-methylglutaconic aciduria, type III (AR) Optic atrophy 3 with cataract (AD) | Costeff Syndrome |
OPHN1 | Intellectual developmental disorder, X-linked syndromic, Billuart type (XLR) | |
ORC1 | Meier-Gorlin syndrome 1 (AR) | |
ORC4 | Meier-Gorlin syndrome 2 (AR) | |
ORC6 | Meier-Gorlin syndrome 3 (AR) | |
OSGEP | Galloway-Mowat syndrome 3 (AR) | |
OSMR | Amyloidosis, primary localized cutaneous, 1 (AD) | |
OSTM1 | Osteopetrosis, autosomal recessive 5 (AR) | |
OTC | Ornithine transcarbamylase deficiency (XLR) Ornithine transcarbamylase deficiency (XLD) | Urea Cycle Disorders Overview Ornithine Transcarbamylase Deficiency |
OTOA | Deafness, autosomal recessive 22 (AR) | Hereditary Hearing Loss and Deafness Overview |
OTOF | Auditory neuropathy, autosomal recessive, 1 (AR) Deafness, autosomal recessive 9 (AR) | OTOF-Related Deafness Hereditary Hearing Loss and Deafness Overview |
OTOGL | Deafness, autosomal recessive 84B (AR) | |
OTUD5 | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (XLR) | |
OTUD6B | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (AR) | |
OTULIN | Autoinflammation, panniculitis, and dermatosis syndrome (AR) | |
OTX2 | Retinal dystrophy, early-onset, with or without pituitary dysfunction (AD) Pituitary hormone deficiency, combined, 6 (AD) Microphthalmia, syndromic 5 (AD) | |
OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency (AR) | |
OXR1 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay (AR) | |
P3H1 | Osteogenesis imperfecta, type VIII (AR) | |
P4HB | Cole-Carpenter syndrome 1 (AD) | |
PACS1 | Schuurs-Hoeijmakers syndrome (AD) | PACS1 Neurodevelopmental Disorder |
PACS2 | Developmental and epileptic encephalopathy 66 (AD) | |
PAFAH1B1 | Subcortical laminar heterotopia (AD) Lissencephaly 1 (AD) | PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia |
PAH | [Hyperphenylalaninemia, non-PKU mild] (AR) Phenylketonuria (AR) | Phenylalanine Hydroxylase Deficiency |
PAK3 | Intellectual developmental disorder, X-linked 30 (XLR) | |
PAM16 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (AR) | |
PANK2 | HARP syndrome (AR) Neurodegeneration with brain iron accumulation 1 (AR) | Pantothenate Kinase-Associated Neurodegeneration |
PAPSS2 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes (AR) | |
PARN | Dyskeratosis congenita, autosomal recessive 6 (AR) | Dyskeratosis Congenita |
PARS2 | Developmental and epileptic encephalopathy 75 (AR) | |
PAX2 | Glomerulosclerosis, focal segmental, 7 (AD) Papillorenal syndrome (AD) | PAX2-Related Disorder |
PAX3 | Craniofacial-deafness-hand syndrome (AD) Waardenburg syndrome, type 3 (AD) Waardenburg syndrome, type 1 (AD) Waardenburg syndrome, type 3 (AR) | Waardenburg Syndrome Type I |
PAX6 | Optic nerve hypoplasia (AD) Cataract with late-onset corneal dystrophy (AD) ?Coloboma of optic nerve (AD) Aniridia (AD) Anterior segment dysgenesis 5, multiple subtypes (AD) Foveal hypoplasia 1 (AD) Keratitis (AD) | PAX6-Related Aniridia |
PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia (AD) | |
PC | Pyruvate carboxylase deficiency (AR) | Pyruvate Carboxylase Deficiency |
PCARE | |
PCBD1 | Hyperphenylalaninemia, BH4-deficient, D (AR) | |
PCCA | Propionicacidemia (AR) | Propionic Acidemia |
PCCB | Propionicacidemia (AR) | Propionic Acidemia |
PCDH15 | Usher syndrome, type 1D/F digenic (AR) Deafness, autosomal recessive 23 (AR) Usher syndrome, type 1F (AR) | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
PCDH19 | Developmental and epileptic encephalopathy 9 (XLD) | |
PCGF2 | Turnpenny-Fry syndrome (AD) | |
PCK1 | |
PCNT | Microcephalic osteodysplastic primordial dwarfism, type II (AR) | Microcephalic Osteodysplastic Primordial Dwarfism Type II |
PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy (AR) | |
PCYT2 | Spastic paraplegia 82, autosomal recessive (AR) | |
PDCD10 | Cerebral cavernous malformations-3 (AD) | Cerebral Cavernous Malformation, Famiilial |
PDE10A | Dyskinesia, limb and orofacial, infantile-onset (AR) Striatal degeneration, autosomal dominant (AD) | |
PDE4D | Acrodysostosis 2, with or without hormone resistance (AD) | |
PDE6D | Joubert syndrome 22 (AR) | Joubert Syndrome |
PDE6G | Retinitis pigmentosa 57 (AR) | Nonsyndromic Retinitis Pigmentosa Overview |
PDGFRB | Premature aging syndrome, Penttinen type (AD) Kosaki overgrowth syndrome (AD) Myofibromatosis, infantile, 1 (AD) Basal ganglia calcification, idiopathic, 4 (AD) Myeloproliferative disorder with eosinophilia (AD) | Primary Familial Brain Calcification |
PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency (XLD) | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
PDHB | Pyruvate dehydrogenase E1-beta deficiency (AR) | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
PDHX | Lacticacidemia due to PDX1 deficiency (AR) | Primary Pyruvate Dehydrogenase Complex Deficiency Overview |
PDP1 | Pyruvate dehydrogenase phosphatase deficiency (AR) | |
PDSS2 | Coenzyme Q10 deficiency, primary, 3 (AR) | Primary Coenzyme Q10 Deficiency |
PDX1 | Pancreatic agenesis 1 (AR) | Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview |
PEPD | Prolidase deficiency (AR) | Prolidase Deficiency |
PERCC1 | Diarrhea 11, malabsorptive, congenital (AR) | |
PET100 | Mitochondrial complex IV deficiency, nuclear type 12 (AR) | |
PEX1 | Heimler syndrome 1 (AR) Peroxisome biogenesis disorder 1B (NALD/IRD) (AR) Peroxisome biogenesis disorder 1A (Zellweger) (AR) | Zellweger Spectrum Disorder |
PEX10 | Peroxisome biogenesis disorder 6A (Zellweger) (AR) Peroxisome biogenesis disorder 6B (AR) | Zellweger Spectrum Disorder |
PEX11B | Peroxisome biogenesis disorder 14B (AR) | Zellweger Spectrum Disorder |
PEX12 | Peroxisome biogenesis disorder 3B (AR) Peroxisome biogenesis disorder 3A (Zellweger) (AR) | Zellweger Spectrum Disorder |
PEX13 | Peroxisome biogenesis disorder 11A (Zellweger) (AR) Peroxisome biogenesis disorder 11B (AR) | Zellweger Spectrum Disorder |
PEX14 | Peroxisome biogenesis disorder 13A (Zellweger) (AR) | Zellweger Spectrum Disorder |
PEX16 | Peroxisome biogenesis disorder 8B (AR) Peroxisome biogenesis disorder 8A (Zellweger) (AR) | Zellweger Spectrum Disorder |
PEX19 | Peroxisome biogenesis disorder 12A (Zellweger) (AR) | Zellweger Spectrum Disorder |
PEX2 | Peroxisome biogenesis disorder 5A (Zellweger) (AR) Peroxisome biogenesis disorder 5B (AR) | Zellweger Spectrum Disorder |
PEX26 | Peroxisome biogenesis disorder 7B (AR) Peroxisome biogenesis disorder 7A (Zellweger) (AR) | Zellweger Spectrum Disorder |
PEX3 | Peroxisome biogenesis disorder 10A (Zellweger) (AR) | Zellweger Spectrum Disorder |
PEX5 | Peroxisome biogenesis disorder 2B (AR) Peroxisome biogenesis disorder 2A (Zellweger) (AR) Rhizomelic chondrodysplasia punctata, type 5 (AR) | Zellweger Spectrum Disorder |
PEX6 | Peroxisome biogenesis disorder 4B (AR) Peroxisome biogenesis disorder 4A (Zellweger) (AR) Heimler syndrome 2 (AR) Peroxisome biogenesis disorder 4B (AD) | Zellweger Spectrum Disorder |
PEX7 | Rhizomelic chondrodysplasia punctata, type 1 (AR) Peroxisome biogenesis disorder 9B (AR) | Rhizomelic Chondrodysplasia Punctata Type 1 Adult Refsum Disease |
PFKM | Glycogen storage disease VII (AR) | |
PGAP1 | Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (AR) | |
PGAP2 | Hyperphosphatasia with mental retardation syndrome 3 (AR) | |
PGAP3 | Hyperphosphatasia with mental retardation syndrome 4 (AR) | |
PGK1 | Phosphoglycerate kinase 1 deficiency (XLR) | |
PGM1 | Congenital disorder of glycosylation, type It (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
PGM3 | Immunodeficiency 23 (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
PHACTR1 | Developmental and epileptic encephalopathy 70 (AD) | |
PHEX | Hypophosphatemic rickets, X-linked dominant (XLD) | X-Linked Hypophosphatemia |
PHF21A | Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (AD) | |
PHF6 | |
PHF8 | Intellectual developmental disorder, X-linked, syndromic, Siderius type (XLR) | |
PHGDH | Neu-Laxova syndrome 1 (AR) Phosphoglycerate dehydrogenase deficiency (AR) | |
PHIP | Chung-Jansen syndrome (AD) | |
PHKA2 | Glycogen storage disease, type IXa2 (XLR) Glycogen storage disease, type IXa1 (XLR) | Phosphorylase Kinase Deficiency |
PHKB | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive (AR) | Phosphorylase Kinase Deficiency |
PHKG2 | Glycogen storage disease IXc (AR) | Phosphorylase Kinase Deficiency |
PHYH | Refsum disease (AR) | Adult Refsum Disease |
PIEZO1 | Lymphatic malformation 6 (AR) Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (AD) | |
PIEZO2 | Arthrogryposis, distal, type 5 (AD) Arthrogryposis, distal, type 3 (AD) Arthrogryposis, distal, with impaired proprioception and touch (AR) | |
PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome 2 (XLR) | |
PIGG | Intellectual developmental disorder, autosomal recessive 53 (AR) | |
PIGK | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (AR) | |
PIGL | CHIME syndrome (AR) | |
PIGN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 (AR) | Fryns Syndrome |
PIGO | Hyperphosphatasia with mental retardation syndrome 2 (AR) | |
PIGQ | Multiple congenital anomalies-hypotonia-seizures syndrome 4 (AR) | |
PIGS | Developmental and epileptic encephalopathy 95 (AR) | |
PIGT | Multiple congenital anomalies-hypotonia-seizures syndrome 3 (AR) | |
PIGV | Hyperphosphatasia with mental retardation syndrome 1 (AR) | |
PIGY | Hyperphosphatasia with mental retardation syndrome 6 (AR) | |
PIH1D3 | |
PIK3CD | Immunodeficiency 14B, autosomal recessive (AR) Immunodeficiency 14A, autosomal dominant (AD) | |
PIK3R1 | |
PIK3R2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (AD) | MPPH Syndrome |
PINK1 | Parkinson disease 6, early onset (AR) | Parkinson Disease Overview PINK1 Type of Young-Onset Parkinson Disease |
PISD | Liberfarb syndrome (AR) | |
PITX1 | Liebenberg syndrome (AD) Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (AD) | |
PITX2 | Ring dermoid of cornea (AD) Axenfeld-Rieger syndrome, type 1 (AD) Anterior segment dysgenesis 4 (AD) | |
PITX3 | Cataract 11, multiple types (AR) Cataract 11, syndromic, autosomal recessive (AR) Cataract 11, multiple types (AD) Anterior segment dysgenesis 1, multiple subtypes (AD) Cataract 11, syndromic, autosomal recessive (AD) | |
PKD1 | Polycystic kidney disease 1 (AD) | Polycystic Kidney Disease, Autosomal Dominant |
PKD1L1 | Heterotaxy, visceral, 8, autosomal (AR) | |
PKD2 | Polycystic kidney disease 2 (AD) | Polycystic Kidney Disease, Autosomal Dominant |
PKHD1 | Polycystic kidney disease 4, with or without hepatic disease (AR) | Polycystic Kidney Disease, Autosomal Recessive |
PKLR | Pyruvate kinase deficiency (AR) Adenosine triphosphate, elevated, of erythrocytes (AD) | |
PLA2G6 | Parkinson disease 14, autosomal recessive (AR) Neurodegeneration with brain iron accumulation 2B (AR) Infantile neuroaxonal dystrophy 1 (AR) | PLA2G6-Associated Neurodegeneration Neurodegeneration with Brain Iron Accumulation Disorders Overview |
PLAA | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (AR) | |
PLCB1 | Developmental and epileptic encephalopathy 12 (AR) | |
PLCB4 | Auriculocondylar syndrome 2 (AR) Auriculocondylar syndrome 2 (AD) | |
PLCE1 | Nephrotic syndrome, type 3 (AR) | |
PLCG2 | Autoinflammation, antibody deficiency, and immune dysregulation syndrome (AD) Familial cold autoinflammatory syndrome 3 (AD) | |
PLEC | Epidermolysis bullosa simplex 5B, with muscular dystrophy (AR) Epidermolysis bullosa simplex 5C, with pyloric atresia (AR) Muscular dystrophy, limb-girdle, autosomal recessive 17 (AR) Epidermolysis bullosa simplex 5A, Ogna type (AD) | Epidermolysis Bullosa with Pyloric Atresia |
PLEKHG5 | Spinal muscular atrophy, distal, autosomal recessive, 4 (AR) Charcot-Marie-Tooth disease, recessive intermediate C (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
PLG | Dysplasminogenemia (AR) Plasminogen deficiency, type I (AR) | |
PLK4 | Microcephaly and chorioretinopathy, autosomal recessive, 2 (AR) | |
PLOD1 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (AR) | PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome |
PLOD2 | Bruck syndrome 2 (AR) | |
PLOD3 | Lysyl hydroxylase 3 deficiency (AR) | |
PLP1 | Pelizaeus-Merzbacher disease (XLR) Spastic paraplegia 2, X-linked (XLR) | PLP1 Disorders |
PLPBP | Epilepsy, early-onset, vitamin B6-dependent (AR) | |
PLS3 | Bone mineral density QTL18, osteoporosis (XLD) | |
PMM2 | Congenital disorder of glycosylation, type Ia (AR) | PMM2-CDG Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
PMP22 | Charcot-Marie-Tooth disease, type 1A (AD) Roussy-Levy syndrome (AD) Charcot-Marie-Tooth disease, type 1E (AD) Neuropathy, recurrent, with pressure palsies (AD) Dejerine-Sottas disease (AD) Dejerine-Sottas disease (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview Hereditary Neuropathy with Liability to Pressure Palsies |
PMPCB | Multiple mitochondrial dysfunctions syndrome 6 (AR) | |
PMS2 | Mismatch repair cancer syndrome 4 (AR) | Lynch Syndrome |
PNKD | Paroxysmal nonkinesigenic dyskinesia 1 (AD) | Familial Paroxysmal Nonkinesigenic Dyskinesia |
PNKP | Ataxia-oculomotor apraxia 4 (AR) Microcephaly, seizures, and developmental delay (AR) | |
PNP | Immunodeficiency due to purine nucleoside phosphorylase deficiency (AR) | |
PNPLA1 | Ichthyosis, congenital, autosomal recessive 10 (AR) | Autosomal Recessive Congenital Ichthyosis |
PNPLA8 | |
PNPO | Pyridoxamine 5'-phosphate oxidase deficiency (AR) | |
PNPT1 | Deafness, autosomal recessive 70 (AR) Combined oxidative phosphorylation deficiency 13 (AR) | |
POC1A | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (AR) | |
POC1B | Cone-rod dystrophy 20 (AR) | Joubert Syndrome |
POGZ | White-Sutton syndrome (AD) | White-Sutton Syndrome |
POLA1 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked (XLR) Van Esch-O'Driscoll syndrome (XLR) | |
POLG | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) (AR) Mitochondrial DNA depletion syndrome 4B (MNGIE type) (AR) Mitochondrial DNA depletion syndrome 4A (Alpers type) (AR) Progressive external ophthalmoplegia, autosomal recessive 1 (AR) | POLG-Related Disorders |
POLG2 | ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) (AR) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 (AD) | |
POLH | Xeroderma pigmentosum, variant type (AR) | Xeroderma Pigmentosum |
POLR1A | Acrofacial dysostosis, Cincinnati type (AD) | |
POLR1B | Treacher-Collins syndrome 4 (AD) | Treacher Collins Syndrome |
POLR1C | Leukodystrophy, hypomyelinating, 11 (AR) Treacher Collins syndrome 3 (AR) | Treacher Collins Syndrome POLR3-Related Leukodystrophy |
POLR1D | Treacher Collins syndrome 2 (AR) Treacher Collins syndrome 2 (AD) | Treacher Collins Syndrome |
POLR3A | Wiedemann-Rautenstrauch syndrome (AR) Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (AR) | POLR3-Related Leukodystrophy |
POLR3B | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (AR) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency POLR3-Related Leukodystrophy |
POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 (AR) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (AR) Retinitis pigmentosa 76 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (AR) | |
POMGNT2 | Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (AR) | |
POMK | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (AR) | |
POMP | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (AR) Proteasome-associated autoinflammatory syndrome 2 (AD) | |
POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (AR) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (AR) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (AR) | |
POMT2 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (AR) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (AR) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (AR) | |
POR | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (AR) | Cytochrome P450 Oxidoreductase Deficiency |
PORCN | Focal dermal hypoplasia (XLD) | Focal Dermal Hypoplasia |
POU1F1 | Pituitary hormone deficiency, combined or isolated, 1 (AR) Pituitary hormone deficiency, combined or isolated, 1 (AD) | |
POU3F4 | Deafness, X-linked 2 (XLR) | Hereditary Hearing Loss and Deafness Overview |
POU4F3 | Deafness, autosomal dominant 15 (AD) | Hereditary Hearing Loss and Deafness Overview |
PPA2 | Sudden cardiac failure, infantile (AR) | |
PPIB | Osteogenesis imperfecta, type IX (AR) | |
PPP1CB | Noonan syndrome-like disorder with loose anagen hair 2 (AD) | |
PPP1R12A | Genitourinary and/or/brain malformation syndrome (AD) | PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome |
PPP1R15B | Microcephaly, short stature, and impaired glucose metabolism 2 (AR) | |
PPP1R21 | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (AR) | |
PPP2CA | Neurodevelopmental disorder and language delay with or without structural brain abnormalities (AD) | |
PPP2R1A | Mental retardation, autosomal dominant 36 (AD) | |
PPP2R5D | Mental retardation, autosomal dominant 35 (AD) | PPP2R5D-Related Neurodevelopmental Disorder |
PPP3CA | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (AD) Developmental and epileptic encephalopathy 91 (AD) | |
PPT1 | Ceroid lipofuscinosis, neuronal, 1 (AR) | |
PQBP1 | Renpenning syndrome (XLR) | |
PRDM12 | Neuropathy, hereditary sensory and autonomic, type VIII (AR) | Congenital Insensitivity to Pain Overview |
PRDM16 | Left ventricular noncompaction 8 (AD) Cardiomyopathy, dilated, 1LL (AD) | |
PREPL | Myasthenic syndrome, congenital, 22 (AR) | Congenital Myasthenic Syndromes Overview |
PRF1 | Hemophagocytic lymphohistiocytosis, familial, 2 (AR) | Familial Hemophagocytic Lymphohistiocytosis |
PRICKLE1 | Epilepsy, progressive myoclonic 1B (AR) | PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia |
PRKAG2 | Glycogen storage disease of heart, lethal congenital (AD) Wolff-Parkinson-White syndrome (AD) Cardiomyopathy, hypertrophic 6 (AD) | Hypertrophic Cardiomyopathy Overview |
PRKAR1A | Pigmented nodular adrenocortical disease, primary, 1 (AD) Acrodysostosis 1, with or without hormone resistance (AD) Carney complex, type 1 (AD) Myxoma, intracardiac (AD) | Carney Complex |
PRKCD | Autoimmune lymphoproliferative syndrome, type III (AR) | |
PRKD1 | Congenital heart defects and ectodermal dysplasia (AD) | |
PRMT7 | Short stature, brachydactyly, intellectual developmental disability, and seizures (AR) | |
PROC | Thrombophilia 3 due to protein C deficiency, autosomal recessive (AR) | |
PRODH | Hyperprolinemia, type I (AR) | |
PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia (AD) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
PROP1 | Pituitary hormone deficiency, combined, 2 (AR) | PROP1-Related Combined Pituitary Hormone Deficiency |
PROS1 | Thrombophilia 5 due to protein S deficiency, autosomal recessive (AR) Thrombophilia 5 due to protein S deficiency, autosomal dominant (AD) | |
PRPS1 | Arts syndrome (XLR) Phosphoribosylpyrophosphate synthetase superactivity (XLR) Charcot-Marie-Tooth disease, X-linked recessive, 5 (XLR) Deafness, X-linked 1 (XLR) Gout, PRPS-related (XLR) | Hereditary Hearing Loss and Deafness Overview Charcot-Marie-Tooth Neuropathy X Type 5 Phosphoribosylpyrophosphate Synthetase Superactivity Arts Syndrome DFNX1 Nonsyndromic Hearing Loss and Deafness |
PRRT2 | Convulsions, familial infantile, with paroxysmal choreoathetosis (AD) Seizures, benign familial infantile, 2 (AD) Episodic kinesigenic dyskinesia 1 (AD) | PRRT2-Associated Paroxysmal Movement Disorders |
PRRX1 | Agnathia-otocephaly complex (AR) Agnathia-otocephaly complex (AD) | |
PRSS12 | Mental retardation, autosomal recessive 1 (AR) | |
PRSS56 | Microphthalmia, isolated 6 (AR) | |
PRUNE1 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (AR) | |
PRX | Charcot-Marie-Tooth disease, type 4F (AR) Dejerine-Sottas disease (AR) Dejerine-Sottas disease (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
PSAP | Combined SAP deficiency (AR) Krabbe disease, atypical (AR) Metachromatic leukodystrophy due to SAP-b deficiency (AR) | |
PSAT1 | Neu-Laxova syndrome 2 (AR) | |
PSMB8 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms (AR) | |
PSMD12 | Stankiewicz-Isidor syndrome (AD) | |
PSPH | Phosphoserine phosphatase deficiency (AR) | |
PTCH1 | Holoprosencephaly 7 (AD) Basal cell nevus syndrome (AD) | Nevoid Basal Cell Carcinoma Syndrome Holoprosencephaly Overview |
PTCHD1 | |
PTDSS1 | Lenz-Majewski hyperostotic dwarfism (AD) | |
PTEN | Lhermitte-Duclos syndrome (AD) Cowden syndrome 1 (AD) Macrocephaly/autism syndrome (AD) | PTEN Hamartoma Tumor Syndrome |
PTF1A | Pancreatic and cerebellar agenesis (AR) Pancreatic agenesis 2 (AR) | |
PTH1R | Metaphyseal chondrodysplasia, Murk Jansen type (AD) Failure of tooth eruption, primary (AD) Eiken syndrome (AR) Chondrodysplasia, Blomstrand type (AR) | |
PTHLH | Brachydactyly, type E2 (AD) | |
PTPN11 | Noonan syndrome 1 (AD) LEOPARD syndrome 1 (AD) Metachondromatosis (AD) | Noonan Syndrome Noonan Syndrome with Multiple Lentigines |
PTPN14 | Choanal atresia and lymphedema (AR) | |
PTPN23 | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (AR) | |
PTPRC | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive (AR) | |
PTRF | |
PTRH2 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
PTS | Hyperphenylalaninemia, BH4-deficient, A (AR) | |
PUF60 | Verheij syndrome (AD) | |
PURA | Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (AD) | PURA-Related Neurodevelopmental Disorders |
PUS1 | Myopathy, lactic acidosis, and sideroblastic anemia 1 (AR) | |
PUS7 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (AR) | |
PXDN | Anterior segment dysgenesis 7, with sclerocornea (AR) | |
PYCR1 | Cutis laxa, autosomal recessive, type IIB (AR) | |
PYCR2 | Leukodystrophy, hypomyelinating, 10 (AR) | |
PYGL | Glycogen storage disease VI (AR) | Glycogen Storage Disease Type VI |
PYGM | McArdle disease (AR) | Glycogen Storage Disease Type V |
PYROXD1 | Myopathy, myofibrillar, 8 (AR) | |
QARS1 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy (AR) | |
QDPR | Hyperphenylalaninemia, BH4-deficient, C (AR) | |
QRICH1 | Ververi-Brady syndrome (AD) | |
RAB11A | |
RAB11B | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (AD) | |
RAB18 | Warburg micro syndrome 3 (AR) | RAB18 Deficiency |
RAB23 | Carpenter syndrome (AR) | |
RAB27A | Griscelli syndrome, type 2 (AR) | |
RAB39B | Intellectual developmental disorder, X-linked 72 (XLR) Waisman syndrome (XLR) | Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated |
RAB3GAP1 | Martsolf syndrome 2 (AR) Warburg micro syndrome 1 (AR) | RAB18 Deficiency |
RAB3GAP2 | Martsolf syndrome 1 (AR) Warburg micro syndrome 2 (AR) | RAB18 Deficiency |
RAB7A | Charcot-Marie-Tooth disease, type 2B (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
RAC1 | Mental retardation, autosomal dominant 48 (AD) | |
RAC2 | |
RAD21 | |
RAD50 | Nijmegen breakage syndrome-like disorder (AR) | |
RAF1 | Cardiomyopathy, dilated, 1NN (AD) Noonan syndrome 5 (AD) | Noonan Syndrome Noonan Syndrome with Multiple Lentigines |
RAG1 | Omenn syndrome (AR) Severe combined immunodeficiency, B cell-negative (AR) Combined cellular and humoral immune defects with granulomas (AR) | |
RAG2 | Severe combined immunodeficiency, B cell-negative (AR) Combined cellular and humoral immune defects with granulomas (AR) Omenn syndrome (AR) | |
RAI1 | Smith-Magenis syndrome (AD) | Smith-Magenis Syndrome Potocki-Lupski Syndrome |
RALGAPA1 | Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (AR) | |
RAPSN | Fetal akinesia deformation sequence 2 (AR) Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (AR) | Congenital Myasthenic Syndromes Overview |
RARB | Microphthalmia, syndromic 12 (AR) Microphthalmia, syndromic 12 (AD) | |
RARS1 | Leukodystrophy, hypomyelinating, 9 (AR) | |
RARS2 | Pontocerebellar hypoplasia, type 6 (AR) | |
RASA1 | Capillary malformation-arteriovenous malformation 1 (AD) | Capillary Malformation-Arteriovenous Malformation Syndrome |
RAX | Microphthalmia, isolated 3 (AR) | |
RB1 | Retinoblastoma, trilateral (AD) Retinoblastoma (AD) | Retinoblastoma |
RBBP8 | Seckel syndrome 2 (AR) Jawad syndrome (AR) | |
RBCK1 | Polyglucosan body myopathy 1 with or without immunodeficiency (AR) | |
RBM10 | TARP syndrome (XLR) | |
RBM8A | Thrombocytopenia-absent radius syndrome (AR) | Thrombocytopenia Absent Radius Syndrome |
RBPJ | Adams-Oliver syndrome 3 (AD) | Adams-Oliver Syndrome |
RDH11 | |
RECQL4 | Baller-Gerold syndrome (AR) Rothmund-Thomson syndrome, type 2 (AR) RAPADILINO syndrome (AR) | Baller-Gerold Syndrome Rothmund-Thomson Syndrome |
RELN | |
REN | Renal tubular dysgenesis (AR) | Autosomal Dominant Tubulointerstitial Kidney Disease -- REN |
RERE | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (AD) | RERE-Related Disorders |
RET | Multiple endocrine neoplasia IIA (AD) Medullary thyroid carcinoma (AD) Pheochromocytoma (AD) Multiple endocrine neoplasia IIB (AD) | Multiple Endocrine Neoplasia Type 2 |
RETREG1 | Neuropathy, hereditary sensory and autonomic, type IIB (AR) | Hereditary Sensory and Autonomic Neuropathy Type II |
RFT1 | Congenital disorder of glycosylation, type In (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
RFX5 | Bare lymphocyte syndrome, type II, complementation group C (AR) Bare lymphocyte syndrome, type II, complementation group E (AR) | |
RFX6 | Mitchell-Riley syndrome (AR) | |
RHOA | |
RHOBTB2 | Developmental and epileptic encephalopathy 64 (AD) | |
RIC1 | CATIFA syndrome (AR) | |
RIMS2 | Cone-rod synaptic disorder syndrome, congenital nonprogressive (AR) | |
RIN2 | Macrocephaly, alopecia, cutis laxa, and scoliosis (AR) | |
RIPK4 | CHAND syndrome (AR) Popliteal pterygium syndrome, Bartsocas-Papas type 1 (AR) | |
RIT1 | Noonan syndrome 8 (AD) | Noonan Syndrome |
RLIM | Tonne-Kalscheuer syndrome (XLR) | |
RMND1 | Combined oxidative phosphorylation deficiency 11 (AR) | |
RMRP | Anauxetic dysplasia 1 (AR) Metaphyseal dysplasia without hypotrichosis (AR) Cartilage-hair hypoplasia (AR) | Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders |
RNASEH2A | Aicardi-Goutieres syndrome 4 (AR) | Aicardi-Goutieres Syndrome |
RNASEH2B | Aicardi-Goutieres syndrome 2 (AR) | Aicardi-Goutieres Syndrome |
RNASEH2C | Aicardi-Goutieres syndrome 3 (AR) | Aicardi-Goutieres Syndrome |
RNASET2 | Leukoencephalopathy, cystic, without megalencephaly (AR) | |
RNF113A | Trichothiodystrophy 5, nonphotosensitive (XLD) | |
RNF13 | Developmental and epileptic encephalopathy 73 (AD) | |
RNF135 | |
RNF168 | RIDDLE syndrome (AR) | |
ROBO3 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 (AR) | |
ROGDI | Kohlschutter-Tonz syndrome (AR) | |
ROR2 | Brachydactyly, type B1 (AD) Robinow syndrome, autosomal recessive (AR) | ROR2-Related Robinow Syndrome |
RORA | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (AD) | |
RPE65 | Retinitis pigmentosa 20 (AR) Leber congenital amaurosis 2 (AR) | Nonsyndromic Retinitis Pigmentosa Overview RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy |
RPGR | Retinitis pigmentosa, X-linked (XLR) Cone-rod dystrophy, X-linked, 1 (XLR) Macular degeneration, X-linked atrophic (XLR) | Nonsyndromic Retinitis Pigmentosa Overview |
RPGRIP1 | Cone-rod dystrophy 13 (AR) Leber congenital amaurosis 6 (AR) | |
RPGRIP1L | Joubert syndrome 7 (AR) Meckel syndrome 5 (AR) | Joubert Syndrome Nephronophthisis |
RPIA | Ribose 5-phosphate isomerase deficiency (AR) | |
RPL10 | Intellectual developmental disorder, X-linked, syndromic, 35 (XLR) | |
RPL11 | Diamond-Blackfan anemia 7 (AD) | Diamond-Blackfan Anemia |
RPL13 | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (AD) | |
RPL26 | |
RPL5 | Diamond-Blackfan anemia 6 (AD) | Diamond-Blackfan Anemia |
RPS15 | |
RPS17 | Diamond-Blackfan anemia 4 (AD) | Diamond-Blackfan Anemia |
RPS19 | Diamond-Blackfan anemia 1 (AD) | Diamond-Blackfan Anemia |
RPS24 | Diamond-blackfan anemia 3 (AD) | Diamond-Blackfan Anemia |
RPS26 | Diamond-Blackfan anemia 10 (AD) | Diamond-Blackfan Anemia |
RPS28 | Diamond Blackfan anemia 15 with mandibulofacial dysostosis (AD) | Diamond-Blackfan Anemia |
RPS29 | Diamond-Blackfan anemia 13 (AD) | Diamond-Blackfan Anemia |
RPS6KA3 | Intellectual developmental disorder, X-linked 19 (XLD) Coffin-Lowry syndrome (XLD) | Coffin-Lowry Syndrome |
RPS7 | Diamond-Blackfan anemia 8 (AD) | Diamond-Blackfan Anemia |
RRM2B | Mitochondrial DNA depletion syndrome 8B (MNGIE type) (AR) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) (AR) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 (AD) | RRM2B Mitochondrial DNA Maintenance Defects |
RS1 | |
RSPH1 | Ciliary dyskinesia, primary, 24 (AR) | Primary Ciliary Dyskinesia |
RSPH3 | Ciliary dyskinesia, primary, 32 (AR) | Primary Ciliary Dyskinesia |
RSPH4A | |
RSPH9 | |
RSPO2 | Tetraamelia syndrome 2 (AR) | |
RSPO4 | Anonychia congenita (AR) | |
RSPRY1 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (AR) | |
RTEL1 | Dyskeratosis congenita, autosomal dominant 4 (AR) Dyskeratosis congenita, autosomal recessive 5 (AR) Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (AD) Dyskeratosis congenita, autosomal dominant 4 (AD) Dyskeratosis congenita, autosomal recessive 5 (AD) | Dyskeratosis Congenita |
RTN4IP1 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures (AR) | |
RTTN | Microcephaly, short stature, and polymicrogyria with seizures (AR) | |
RUNX2 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (AD) Cleidocranial dysplasia, forme fruste, with brachydactyly (AD) Cleidocranial dysplasia, forme fruste, dental anomalies only (AD) Cleidocranial dysplasia (AD) | Cleidocranial Dysplasia Spectrum Disorder |
RXYLT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (AR) | |
RYR1 | Neuromuscular disease, congenital, with uniform type 1 fiber (AD) Central core disease (AD) King-Denborough syndrome (AD) Neuromuscular disease, congenital, with uniform type 1 fiber (AR) Central core disease (AR) Minicore myopathy with external ophthalmoplegia (AR) | Malignant Hyperthermia Susceptibility |
RYR2 | Ventricular tachycardia, catecholaminergic polymorphic, 1 (AD) Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (AD) Arrhythmogenic right ventricular dysplasia 2 (AD) | Arrhythmogenic Right Ventricular Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia |
SACS | Spastic ataxia, Charlevoix-Saguenay type (AR) | ARSACS |
SALL1 | Townes-Brocks syndrome 1 (AD) Townes-Brocks branchiootorenal-like syndrome (AD) | Townes-Brocks Syndrome |
SALL4 | Duane-radial ray syndrome (AD) | Duane Syndrome SALL4-Related Disorders |
SAMD9 | Tumoral calcinosis, familial, normophosphatemic (AR) Monosomy 7 myelodysplasia and leukemia syndrome 2 (AD) MIRAGE syndrome (AD) | MIRAGE Syndrome |
SAMD9L | Ataxia-pancytopenia syndrome (AD) Monosomy 7 myelodysplasia and leukemia syndrome 1 (AD) | SAMD9L Ataxia-Pancytopenia Syndrome |
SAMHD1 | |
SARS2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (AR) | |
SASS6 | Microcephaly 14, primary, autosomal recessive (AR) | |
SATB2 | Glass syndrome (AD) | SATB2-Associated Syndrome |
SBDS | Shwachman-Diamond syndrome (AR) | Shwachman-Diamond Syndrome Pancreatitis Overview |
SBF1 | Charcot-Marie-Tooth disease, type 4B3 (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
SC5D | Lathosterolosis (AR) | |
SCAMP5 | |
SCAPER | Intellectual developmental disorder and retinitis pigmentosa (AR) | |
SCARF2 | Van den Ende-Gupta syndrome (AR) | |
SCN11A | Episodic pain syndrome, familial, 3 (AD) Neuropathy, hereditary sensory and autonomic, type VII (AD) | Congenital Insensitivity to Pain Overview |
SCN1A | Developmental and epileptic encephalopathy 6B, non-Dravet (AD) Migraine, familial hemiplegic, 3 (AD) Dravet syndrome (AD) Febrile seizures, familial, 3A (AD) Generalized epilepsy with febrile seizures plus, type 2 (AD) | SCN1A-Related Seizure Disorders Familial Hemiplegic Migraine |
SCN1B | Developmental and epileptic encephalopathy 52 (AR) Generalized epilepsy with febrile seizures plus, type 1 (AD) Atrial fibrillation, familial, 13 (AD) | Brugada Syndrome |
SCN2A | Seizures, benign familial infantile, 3 (AD) Developmental and epileptic encephalopathy 11 (AD) Episodic ataxia, type 9 (AD) | |
SCN3A | Epilepsy, familial focal, with variable foci 4 (AD) Developmental and epileptic encephalopathy 62 (AD) | SCN3A-Related Neurodevelopmental Disorder |
SCN4A | Paramyotonia congenita (AD) Hypokalemic periodic paralysis, type 2 (AD) Myotonia congenita, atypical, acetazolamide-responsive (AD) Hyperkalemic periodic paralysis, type 2 (AD) Myasthenic syndrome, congenital, 16 (AR) | Congenital Myasthenic Syndromes Overview Hypokalemic Periodic Paralysis Hyperkalemic Periodic Paralysis |
SCN8A | Seizures, benign familial infantile, 5 (AD) Cognitive impairment with or without cerebellar ataxia (AD) Developmental and epileptic encephalopathy 13 (AD) | SCN8A-Related Epilepsy with Encephalopathy |
SCN9A | Insensitivity to pain, congenital (AR) Neuropathy, hereditary sensory and autonomic, type IID (AR) Erythermalgia, primary (AD) Small fiber neuropathy (AD) Paroxysmal extreme pain disorder (AD) | SCN9A Neuropathic Pain Syndromes Hereditary Sensory and Autonomic Neuropathy Type II Congenital Insensitivity to Pain Overview |
SCNN1A | Pseudohypoaldosteronism, type I (AR) Bronchiectasis with or without elevated sweat chloride 2 (AD) | |
SCNN1B | Pseudohypoaldosteronism, type I (AR) | |
SCO1 | Mitochondrial complex IV deficiency, nuclear type 4 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SCO2 | Mitochondrial complex IV deficiency, nuclear type 2 (AR) Myopia 6 (AD) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SCYL1 | Spinocerebellar ataxia, autosomal recessive 21 (AR) | |
SCYL2 | Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum (AR) | |
SDCCAG8 | Senior-Loken syndrome 7 (AR) Bardet-Biedl syndrome 16 (AR) | Bardet-Biedl Syndrome Overview Nephronophthisis |
SDHA | Cardiomyopathy, dilated, 1GG (AR) Mitochondrial complex II deficiency, nuclear type 1 (AR) Neurodegeneration with ataxia and late-onset optic atrophy (AD) Paragangliomas 5 (AD) | Hereditary Paraganglioma-Pheochromocytoma Syndromes Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SDHAF1 | Mitochondrial complex II deficiency, nuclear type 2 (AR) | |
SDHD | Paragangliomas 1, with or without deafness (AD) Pheochromocytoma (AD) | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
SEC23B | Dyserythropoietic anemia, congenital, type II (AR) | |
SEC24D | Cole-Carpenter syndrome 2 (AR) | |
SELENOI | Spastic paraplegia 81, autosomal recessive (AR) | |
SELENON | Myopathy, congenital, with fiber-type disproportion (AR) Muscular dystrophy, rigid spine, 1 (AR) Myopathy, congenital, with fiber-type disproportion (AD) | |
SEPN1 | |
SEPSECS | Pontocerebellar hypoplasia type 2D (AR) | |
44813 | |
SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (AR) | SERAC1 Deficiency |
SERPINF1 | Osteogenesis imperfecta, type VI (AR) | |
SERPINH1 | Osteogenesis imperfecta, type X (AR) | |
SET | Mental retardation, autosomal dominant 58 (AD) | |
SETBP1 | Schinzel-Giedion midface retraction syndrome (AD) Mental retardation, autosomal dominant 29 (AD) | SETBP1 Haploinsufficiency Disorder |
SETD1A | Epilepsy, early-onset, with or without developmental delay (AD) Neurodevelopmental disorder with speech impairment and dysmorphic facies (AD) | |
SETD2 | Luscan-Lumish syndrome (AD) | SETD2 Neurodevelopmental Disorders |
SETD5 | Mental retardation, autosomal dominant 23 (AD) | |
SETX | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (AR) | Ataxia with Oculomotor Apraxia Type 2 Charcot-Marie-Tooth Hereditary Neuropathy Overview |
SF3B4 | Acrofacial dysostosis 1, Nager type (AD) | |
SFTPB | Surfactant metabolism dysfunction, pulmonary, 1 (AR) | |
SFTPC | Surfactant metabolism dysfunction, pulmonary, 2 (AD) | Pulmonary Fibrosis Predisposition Overview |
SFXN4 | Combined oxidative phosphorylation deficiency 18 (AR) | |
SGCA | Muscular dystrophy, limb-girdle, autosomal recessive 3 (AR) | |
SGCB | Muscular dystrophy, limb-girdle, autosomal recessive 4 (AR) | |
SGCD | Muscular dystrophy, limb-girdle, autosomal recessive 6 (AR) | Dilated Cardiomyopathy Overview |
SGCE | Dystonia-11, myoclonic (AD) | SGCE Myoclonus-Dystonia |
SGCG | Muscular dystrophy, limb-girdle, autosomal recessive 5 (AR) | |
SGPL1 | Nephrotic syndrome, type 14 (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview Sphingosine Phosphate Lyase Insufficiency Syndrome |
SGSH | Mucopolysaccharidosis type IIIA (Sanfilippo A) (AR) | Mucopolysaccharidosis Type III |
SH2D1A | Lymphoproliferative syndrome, X-linked, 1 (XLR) | Lymphoproliferative Disease, X-Linked |
SH3PXD2B | Frank-ter Haar syndrome (AR) | |
SH3TC2 | Charcot-Marie-Tooth disease, type 4C (AR) | SH3TC2-Related Hereditary Motor and Sensory Neuropathy |
SHANK1 | |
SHANK2 | |
SHANK3 | Phelan-McDermid syndrome (AD) | Phelan-McDermid Syndrome |
SHH | Microphthalmia with coloboma 5 (AD) Single median maxillary central incisor (AD) Holoprosencephaly 3 (AD) | Holoprosencephaly Overview |
SHOC2 | Noonan syndrome-like with loose anagen hair 1 (AD) | |
SHOX | Langer mesomelic dysplasia (AR) Leri-Weill dyschondrosteosis (AD) | SHOX Deficiency Disorders |
SHROOM4 | Intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type (XLD) | |
SIK1 | Developmental and epileptic encephalopathy 30 (AD) | |
SIL1 | Marinesco-Sjogren syndrome (AR) | Marinesco-Sjogren Syndrome |
SIM1 | |
SIN3A | Witteveen-Kolk syndrome (AD) | |
SIX1 | Deafness, autosomal dominant 23 (AD) Branchiootic syndrome 3 (AD) | Branchiootorenal Spectrum Disorder Hereditary Hearing Loss and Deafness Overview |
SIX3 | Holoprosencephaly 2 (AD) | Holoprosencephaly Overview |
SIX5 | |
SKI | Shprintzen-Goldberg syndrome (AD) | Shprintzen-Goldberg Syndrome |
SKIV2L | Trichohepatoenteric syndrome 2 (AR) | Trichohepatoenteric Syndrome |
SLC10A7 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (AR) | |
SLC12A1 | Bartter syndrome, type 1 (AR) | |
SLC12A3 | Gitelman syndrome (AR) | |
SLC12A5 | |
SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy (AR) | Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum |
SLC13A5 | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (AR) | |
SLC16A1 | Monocarboxylate transporter 1 deficiency (AR) Hyperinsulinemic hypoglycemia, familial, 7 (AD) Erythrocyte lactate transporter defect (AD) Monocarboxylate transporter 1 deficiency (AD) | |
SLC16A2 | Allan-Herndon-Dudley syndrome (XLD) Allan-Herndon-Dudley syndrome (XLR) | Allan-Herndon-Dudley Syndrome |
SLC17A5 | Salla disease (AR) Sialic acid storage disorder, infantile (AR) | Free Sialic Acid Storage Disorders |
SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome (AR) | Thiamine-Responsive Megaloblastic Anemia Syndrome |
SLC19A3 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (AR) | Biotin-Thiamine-Responsive Basal Ganglia Disease |
SLC1A2 | Developmental and epileptic encephalopathy 41 (AD) | |
SLC22A5 | Carnitine deficiency, systemic primary (AR) | Systemic Primary Carnitine Deficiency |
SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria (AR) Myasthenic syndrome, congenital, 23, presynaptic (AR) | Congenital Myasthenic Syndromes Overview |
SLC25A12 | Developmental and epileptic encephalopathy 39 (AR) | |
SLC25A13 | Citrullinemia, type II, neonatal-onset (AR) Citrullinemia, adult-onset type II (AR) | Citrin Deficiency |
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (AR) | Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
SLC25A19 | Microcephaly, Amish type (AR) Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (AR) | Amish Lethal Microcephaly |
SLC25A20 | Carnitine-acylcarnitine translocase deficiency (AR) | |
SLC25A22 | Developmental and epileptic encephalopathy 3 (AR) | |
SLC25A24 | Fontaine progeroid syndrome (AD) | |
SLC25A26 | Combined oxidative phosphorylation deficiency 28 (AR) | |
SLC25A3 | Mitochondrial phosphate carrier deficiency (AR) | |
SLC25A38 | Anemia, sideroblastic, 2, pyridoxine-refractory (AR) | |
SLC25A4 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (AD) Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (AD) Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (AR) | |
SLC25A42 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (AR) | |
SLC26A2 | Epiphyseal dysplasia, multiple, 4 (AR) De la Chapelle dysplasia (AR) Diastrophic dysplasia (AR) Diastrophic dysplasia, broad bone-platyspondylic variant (AR) Achondrogenesis Ib (AR) Atelosteogenesis, type II (AR) | Multiple Epiphyseal Dysplasia, Recessive Atelosteogenesis Type 2 Diastrophic Dysplasia Achondrogenesis Type 1B |
SLC26A3 | Diarrhea 1, secretory chloride, congenital (AR) | |
SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (AR) Pendred syndrome (AR) | Hereditary Hearing Loss and Deafness Overview Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct |
SLC26A7 | |
SLC27A4 | Ichthyosis prematurity syndrome (AR) | Autosomal Recessive Congenital Ichthyosis |
SLC2A1 | Dystonia 9 (AD) GLUT1 deficiency syndrome 1, infantile onset, severe (AD) Stomatin-deficient cryohydrocytosis with neurologic defects (AD) GLUT1 deficiency syndrome 2, childhood onset (AD) GLUT1 deficiency syndrome 1, infantile onset, severe (AR) | Glucose Transporter Type 1 Deficiency Syndrome |
SLC2A10 | Arterial tortuosity syndrome (AR) | Arterial Tortuosity Syndrome |
SLC2A2 | Fanconi-Bickel syndrome (AR) | |
SLC30A10 | Hypermanganesemia with dystonia 1 (AR) | Hypermanganesemia with Dystonia 1 |
SLC33A1 | Congenital cataracts, hearing loss, and neurodegeneration (AR) Spastic paraplegia 42, autosomal dominant (AD) | Huppke-Brendel Syndrome |
SLC34A2 | Pulmonary alveolar microlithiasis (AR) | |
SLC34A3 | Hypophosphatemic rickets with hypercalciuria (AR) | |
SLC35A1 | Congenital disorder of glycosylation, type IIf (AR) | |
SLC35A2 | Congenital disorder of glycosylation, type IIm (XLD) | |
SLC35A3 | Arthrogryposis, impaired intellectual development, and seizures (AR) | |
SLC35C1 | Congenital disorder of glycosylation, type IIc (AR) | |
SLC35D1 | Schneckenbecken dysplasia (AR) | |
SLC37A4 | Glycogen storage disease Ib (AR) Glycogen storage disease Ic (AR) | Glycogen Storage Disease Type I |
SLC39A13 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 (AR) | |
SLC39A4 | Acrodermatitis enteropathica (AR) | |
SLC39A8 | Congenital disorder of glycosylation, type IIn (AR) | |
SLC3A1 | Cystinuria (AR) | |
SLC45A2 | [Skin/hair/eye pigmentation 5, dark/light eyes] (AR) [Skin/hair/eye pigmentation 5, black/nonblack hair] (AR) Albinism, oculocutaneous, type IV (AR) [Skin/hair/eye pigmentation 5, dark/fair skin] (AR) | Oculocutaneous Albinism Type 4 |
SLC46A1 | Folate malabsorption, hereditary (AR) | Hereditary Folate Malabsorption |
SLC4A1 | Distal renal tubular acidosis 1 (AD) Spherocytosis, type 4 (AD) Cryohydrocytosis (AD) Ovalocytosis, SA type (AD) Distal renal tubular acidosis 4 with hemolytic anemia (AR) | Hereditary Distal Renal Tubular Acidosis |
SLC4A11 | Corneal endothelial dystrophy, autosomal recessive (AR) Corneal endothelial dystrophy and perceptive deafness (AR) | |
SLC4A4 | Renal tubular acidosis, proximal, with ocular abnormalities (AR) | |
SLC52A2 | Brown-Vialetto-Van Laere syndrome 2 (AR) | Riboflavin Transporter Deficiency |
SLC52A3 | Brown-Vialetto-Van Laere syndrome 1 (AR) | Riboflavin Transporter Deficiency |
SLC5A1 | Glucose/galactose malabsorption (AR) | |
SLC5A2 | Renal glucosuria (AR) | |
SLC5A5 | Thyroid dyshormonogenesis 1 (AR) | |
SLC5A6 | Neurodegeneration, infantile-onset, biotin-responsive (AR) | |
SLC5A7 | Myasthenic syndrome, congenital, 20, presynaptic (AR) Neuronopathy, distal hereditary motor, type VIIA (AD) | Congenital Myasthenic Syndromes Overview |
SLC6A1 | Myoclonic-atonic epilepsy (AD) | |
SLC6A3 | Parkinsonism-dystonia, infantile, 1 (AR) | SLC6A3-Related Dopamine Transported Deficiency Syndrome |
SLC6A5 | Hyperekplexia 3 (AR) Hyperekplexia 3 (AD) | Hereditary Hyperekplexia Overview |
SLC6A8 | Cerebral creatine deficiency syndrome 1 (XLR) | Creatine Deficiency Disorders |
SLC6A9 | Glycine encephalopathy with normal serum glycine (AR) | GLYT1 Encephalopathy |
SLC7A7 | Lysinuric protein intolerance (AR) | Lysinuric Protein Intolerance |
SLC7A9 | Cystinuria (AR) | |
SLC9A1 | Lichtenstein-Knorr syndrome (AR) | |
SLC9A6 | Intellectual developmental disorder, X-linked syndromic, Christianson type (XLD) Intellectual developmental disorder, X-linked syndromic, Christianson type (XLR) | Christianson Syndrome |
SLCO2A1 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 (AR) | |
SLX4 | Fanconi anemia, complementation group P (AR) | Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview |
SMAD3 | Loeys-Dietz syndrome 3 (AD) | Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome |
SMAD4 | Myhre syndrome (AD) Polyposis, juvenile intestinal (AD) Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (AD) | Hereditary Hemorrhagic Telangiectasia Juvenile Polyposis Syndrome Myhre Syndrome |
SMARCA2 | Nicolaides-Baraitser syndrome (AD) Blepharophimosis-impaired intellectual development syndrome (AD) | Nicolaides-Baraitser Syndrome |
SMARCA4 | Coffin-Siris syndrome 4 (AD) | Coffin-Siris Syndrome Rhabdoid Tumor Predisposition Syndrome |
SMARCAL1 | Schimke immunoosseous dysplasia (AR) | Schimke Immunoosseous Dysplasia |
SMARCB1 | Coffin-Siris syndrome 3 (AD) | Coffin-Siris Syndrome Rhabdoid Tumor Predisposition Syndrome Schwannomatosis |
SMARCC2 | Coffin-Siris syndrome 8 (AD) | Coffin-Siris Syndrome |
SMARCD1 | Coffin-Siris syndrome 11 (AD) | |
SMARCE1 | Coffin-Siris syndrome 5 (AD) | Coffin-Siris Syndrome |
SMC1A | Cornelia de Lange syndrome 2 (XLD) Developmental and epileptic encephalopathy 85, with or without midline brain defects (XLD) | Cornelia de Lange Syndrome |
SMC3 | Cornelia de Lange syndrome 3 (AD) | Cornelia de Lange Syndrome |
SMCHD1 | Bosma arhinia microphthalmia syndrome (AD) | Facioscapulohumeral Muscular Dystrophy |
SMN1 | Spinal muscular atrophy-2 (AR) Spinal muscular atrophy-4 (AR) Spinal muscular atrophy-3 (AR) Spinal muscular atrophy-1 (AR) | Spinal Muscular Atrophy |
SMOC1 | Microphthalmia with limb anomalies (AR) | |
SMPD1 | Niemann-Pick disease, type B (AR) Niemann-Pick disease, type A (AR) | Acid Sphingomyelinase Deficiency |
SMPD4 | Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (AR) | |
SMPX | |
SMS | Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type (XLR) | Snyder-Robinson Syndrome |
SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (AR) | |
SNORD118 | Leukoencephalopathy, brain calcifications, and cysts (AR) | |
SNRPB | Cerebrocostomandibular syndrome (AD) | |
SNX14 | Spinocerebellar ataxia, autosomal recessive 20 (AR) | |
SON | ZTTK syndrome (AD) | |
SOS1 | Noonan syndrome 4 (AD) | Noonan Syndrome |
SOS2 | Noonan syndrome 9 (AD) | Noonan Syndrome |
SOX10 | Waardenburg syndrome, type 4C (AD) PCWH syndrome (AD) Waardenburg syndrome, type 2E, with or without neurologic involvement (AD) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
SOX11 | Coffin-Siris syndrome 9 (AD) | Coffin-Siris Syndrome |
SOX17 | Vesicoureteral reflux 3 (AD) | |
SOX2 | Optic nerve hypoplasia and abnormalities of the central nervous system (AD) Microphthalmia, syndromic 3 (AD) | SOX2 Disorder Esophageal Atresia/Tracheoesophageal Fistula Overview |
SOX3 | Intellectual developmental disorder (XLD) Panhypopituitarism, X-linked (XLD) | |
SOX5 | Lamb-Shaffer syndrome (AD) | |
SOX6 | Tolchin-Le Caignec syndrome (AD) | |
SOX9 | Campomelic dysplasia with autosomal sex reversal (AD) Acampomelic campomelic dysplasia (AD) Campomelic dysplasia (AD) | Campomelic Dysplasia |
SP110 | Hepatic venoocclusive disease with immunodeficiency (AR) | Hepatic Veno-Occlusive Disease with Immunodeficiency |
SP7 | Osteogenesis imperfecta, type XII (AR) | |
SPAG1 | Ciliary dyskinesia, primary, 28 (AR) | Primary Ciliary Dyskinesia |
SPART | Troyer syndrome (AR) | Troyer Syndrome |
SPAST | Spastic paraplegia 4, autosomal dominant (AD) | Spastic Paraplegia 4 |
SPATA5 | Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (AR) | |
SPECC1L | Opitz GBBB syndrome, type II (AD) Teebi hypertelorism syndrome 1 (AD) | |
SPEG | Centronuclear myopathy 5 (AR) | |
SPINK5 | Netherton syndrome (AR) | |
SPR | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (AR) Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (AD) | Sepiapterin Reductase Deficiency |
SPRED1 | Legius syndrome (AD) | Legius Syndrome |
SPTA1 | Elliptocytosis-2 (AD) | |
SPTAN1 | Developmental and epileptic encephalopathy 5 (AD) | |
SPTB | Spherocytosis, type 2 (AD) | |
SPTBN2 | Spinocerebellar ataxia, autosomal recessive 14 (AR) Spinocerebellar ataxia 5 (AD) | |
SPTBN4 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (AR) | SPTBN4 Disorder |
SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA (AD) | Charcot-Marie-Tooth Hereditary Neuropathy Overview SPTLC1-Related Hereditary Sensory Neuropathy |
SPTLC2 | Neuropathy, hereditary sensory and autonomic, type IC (AD) | |
SRCAP | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (AD) Floating-Harbor syndrome (AD) | Floating-Harbor Syndrome |
SRD5A3 | Kahrizi syndrome (AR) Congenital disorder of glycosylation, type Iq (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
SRP54 | Neutropenia, severe congenital, 8, autosomal dominant (AD) | Shwachman-Diamond Syndrome |
SRY | 46XX sex reversal 1 (XLD) 46XY sex reversal 1 (YL) | Nonsyndromic 46,XX Testicular Disorders of Sex Development Nonsyndromic Disorders of Testicular Development |
SSR4 | Congenital disorder of glycosylation, type Iy (XLR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
ST14 | Ichthyosis, congenital, autosomal recessive 11 (AR) | |
ST3GAL3 | Developmental and epileptic encephalopathy 15 (AR) Intellectual developmental disorder, autosomal recessive 12 (AR) | |
ST3GAL5 | Salt and pepper developmental regression syndrome (AR) | |
STAG1 | Mental retardation, autosomal dominant 47 (AD) | |
STAG2 | Mullegama-Klein-Martinez syndrome (XLR) | |
STAMBP | Microcephaly-capillary malformation syndrome (AR) | Microcephaly-Capillary Malformation Syndrome |
STAR | Lipoid adrenal hyperplasia (AR) | |
STAT2 | Pseudo-TORCH syndrome 3 (AR) Immunodeficiency 44 (AR) | |
STAT3 | Hyper-IgE recurrent infection syndrome (AD) Autoimmune disease, multisystem, infantile-onset, 1 (AD) | STAT3 Hyper IgE Syndrome |
STAT5B | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive (AR) Growth hormone insensitivity with immune dysregulation 2, autosomal dominant (AD) | |
STIL | Microcephaly 7, primary, autosomal recessive (AR) | |
STIM1 | Immunodeficiency 10 (AR) Myopathy, tubular aggregate, 1 (AD) Stormorken syndrome (AD) | |
STK11 | Peutz-Jeghers syndrome (AD) | Peutz-Jeghers Syndrome |
STRA6 | Microphthalmia, syndromic 9 (AR) Microphthalmia, isolated, with coloboma 8 (AR) | |
STRADA | Polyhydramnios, megalencephaly, and symptomatic epilepsy (AR) | |
STRC | Deafness, autosomal recessive 16 (AR) | Hereditary Hearing Loss and Deafness Overview CATSPER-Related Male Infertility |
STS | Ichthyosis, X-linked (XLR) | |
STX11 | Hemophagocytic lymphohistiocytosis, familial, 4 (AR) | Familial Hemophagocytic Lymphohistiocytosis |
STX1B | Generalized epilepsy with febrile seizures plus, type 9 (AD) | |
STXBP1 | Developmental and epileptic encephalopathy 4 (AD) | STXBP1 Encephalopathy with Epilepsy |
STXBP2 | |
SUCLA2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (AR) | SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria |
SUCLG1 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) (AR) | SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria |
SUMF1 | Multiple sulfatase deficiency (AR) | Multiple Sulfatase Deficiency |
SUOX | Sulfite oxidase deficiency (AR) | Isolated Sulfite Oxidase Deficiency |
SURF1 | Charcot-Marie-Tooth disease, type 4K (AR) Mitochondrial complex IV deficiency, nuclear type 1 (AR) | Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview |
SUZ12 | Imagawa-Matsumoto syndrome (AD) | |
SVBP | Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (AR) | |
SYN1 | Intellectual developmental disorder, X-linked 50 (XLD) Intellectual developmental disorder, X-linked 50 (XLR) | |
SYNE1 | Arthrogryposis multiplex congenita 3, myogenic type (AR) Spinocerebellar ataxia, autosomal recessive 8 (AR) Emery-Dreifuss muscular dystrophy 4, autosomal dominant (AD) | SYNE1 Deficiency |
SYNGAP1 | Mental retardation, autosomal dominant 5 (AD) | SYNGAP1-Related Intellectual Disability |
SYNJ1 | Parkinson disease 20, early-onset (AR) Developmental and epileptic encephalopathy 53 (AR) | |
SYP | Intellectual developmental disorder, X-linked 96 (XLR) | |
SYT1 | Baker-Gordon syndrome (AD) | |
SZT2 | Developmental and epileptic encephalopathy 18 (AR) | |
TAB2 | Congenital heart defects, nonsyndromic, 2 (AD) | |
TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia (AR) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia (AR) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
TAF1 | Intellectual developmental disorder, X-linked syndromic 33 (XLR) Dystonia-Parkinsonism, X-linked (XLR) | X-Linked Dystonia-Parkinsonism Syndrome |
TAF13 | Mental retardation, autosomal recessive 60 (AR) | |
TAF2 | Intellectual developmental disorder, autosomal recessive 40 (AR) | |
TAF6 | Alazami-Yuan syndrome (AR) | |
TANGO2 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (AR) | TANGO2-Related Metabolic Encephalopathy and Arrhythmias |
TAOK1 | Developmental delay with or without intellectual impairment or behavioral abnormalities (AD) | |
TASP1 | Suleiman-El-Hattab syndrome (AR) | |
TAT | Tyrosinemia, type II (AR) | |
TAZ | |
TBC1D20 | Warburg micro syndrome 4 (AR) | RAB18 Deficiency |
TBC1D23 | Pontocerebellar hypoplasia, type 11 (AR) | |
TBC1D24 | Deafness, autosomal recessive 86 (AR) Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (AR) Myoclonic epilepsy, infantile, familial (AR) Developmental and epileptic encephalopathy 16 (AR) DOORS syndrome (AR) | TBC1D24-Related Disorders |
TBCD | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (AR) | |
TBCE | Kenny-Caffey syndrome, type 1 (AR) Hypoparathyroidism-retardation-dysmorphism syndrome (AR) Encephalopathy, progressive, with amyotrophy and optic atrophy (AR) | |
TBCK | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (AR) | |
TBL1XR1 | Pierpont syndrome (AD) Mental retardation, autosomal dominant 41 (AD) | |
TBR1 | Intellectual developmental disorder with autism and speech delay (AD) | |
TBX1 | Tetralogy of Fallot (AD) DiGeorge syndrome (AD) Velocardiofacial syndrome (AD) | 22q11.2 Deletion Syndrome |
TBX15 | Cousin syndrome (AR) | |
TBX18 | Congenital anomalies of kidney and urinary tract 2 (AD) | |
TBX20 | |
TBX22 | Cleft palate with ankyloglossia (XLD) | |
TBX3 | Ulnar-mammary syndrome (AD) | |
TBX4 | Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome (AR) Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (AD) | |
TBX5 | Holt-Oram syndrome (AD) | Holt-Oram Syndrome |
TBXAS1 | Ghosal hematodiaphyseal syndrome (AR) | |
TCAP | Muscular dystrophy, limb-girdle, autosomal recessive 7 (AR) | Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview |
TCF12 | Craniosynostosis 3 (AD) Hypogonadotropic hypogonadism 26 with or without anosmia (AD) | |
TCF20 | Developmental delay with variable intellectual impairment and behavioral abnormalities (AD) | |
TCF4 | Pitt-Hopkins syndrome (AD) Corneal dystrophy, Fuchs endothelial, 3 (AD) | Pitt-Hopkins Syndrome |
TCIRG1 | Osteopetrosis, autosomal recessive 1 (AR) | |
TCN2 | Transcobalamin II deficiency (AR) | |
TCOF1 | Treacher Collins syndrome 1 (AD) | Treacher Collins Syndrome |
TCTN1 | Joubert syndrome 13 (AR) | Joubert Syndrome |
TCTN2 | Joubert syndrome 24 (AR) | Joubert Syndrome |
TCTN3 | Joubert syndrome 18 (AR) Orofaciodigital syndrome IV (AR) | Joubert Syndrome |
TECPR2 | Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (AR) | |
TECTA | Deafness, autosomal recessive 21 (AR) | Hereditary Hearing Loss and Deafness Overview |
TEK | Venous malformations, multiple cutaneous and mucosal (AD) Glaucoma 3, primary congenital, E (AD) | Primary Congenital Glaucoma Multiple Cutaneous and Mucosal Venous Malformations |
TELO2 | You-Hoover-Fong syndrome (AR) | |
TERT | Dyskeratosis congenita, autosomal dominant 2 (AR) Dyskeratosis congenita, autosomal recessive 4 (AR) | Pulmonary Fibrosis Predisposition Overview Dyskeratosis Congenita |
TFAP2A | Branchiooculofacial syndrome (AD) | Branchiooculofacial Syndrome |
TFAP2B | Patent ductus arteriosus 2 (AD) Char syndrome (AD) | Char Syndrome |
TFG | Hereditary motor and sensory neuropathy, Okinawa type (AD) | |
TG | Thyroid dyshormonogenesis 3 (AR) | |
TGDS | Catel-Manzke syndrome (AR) | |
TGFB1 | Inflammatory bowel disease, immunodeficiency, and encephalopathy (AR) Camurati-Engelmann disease (AD) | Camurati-Engelmann Disease |
TGFB2 | Loeys-Dietz syndrome 4 (AD) | Loeys-Dietz Syndrome |
TGFB3 | Arrhythmogenic right ventricular dysplasia 1 (AD) Loeys-Dietz syndrome 5 (AD) | Arrhythmogenic Right Ventricular Cardiomyopathy Loeys-Dietz Syndrome |
TGFBR1 | Loeys-Dietz syndrome 1 (AD) | Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome |
TGFBR2 | Loeys-Dietz syndrome 2 (AD) | Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome |
TGIF1 | Holoprosencephaly 4 (AD) | Holoprosencephaly Overview |
TGM1 | Ichthyosis, congenital, autosomal recessive 1 (AR) | Autosomal Recessive Congenital Ichthyosis |
TGM5 | Peeling skin syndrome 2 (AR) | Epidermolysis Bullosa Simplex |
TH | Segawa syndrome, recessive (AR) | Tyrosine Hydroxylase Deficiency |
THAP1 | Dystonia 6, torsion (AD) | |
THOC2 | Intellectual developmental disorder, X-linked 12 (XLR) | |
THOC6 | Beaulieu-Boycott-Innes syndrome (AR) | THOC6 Intellectual Disability Syndrome |
THRA | Hypothyroidism, congenital, nongoitrous, 6 (AD) | |
THRB | Thyroid hormone resistance (AD) Thyroid hormone resistance, selective pituitary (AD) | |
TIMM8A | Mohr-Tranebjaerg syndrome (XLR) | Deafness-Dystonia-Optic Neuronopathy Syndrome |
TJP2 | Hypercholanemia, familial 1 (AR) Cholestasis, progressive familial intrahepatic 4 (AR) | |
TK2 | Mitochondrial DNA depletion syndrome 2 (myopathic type) (AR) | TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form |
TKT | Short stature, developmental delay, and congenital heart defects (AR) | |
TLK2 | Intellectual developmental disorder, autosomal dominant 57 (AD) | |
TMC1 | Deafness, autosomal recessive 7 (AR) | Hereditary Hearing Loss and Deafness Overview |
TMCO1 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (AR) | |
TMEM107 | Orofaciodigital syndrome XVI (AR) Meckel syndrome 13 (AR) | Joubert Syndrome |
TMEM126B | Mitochondrial complex I deficiency, nuclear type 29 (AR) | |
TMEM138 | Joubert syndrome 16 (AR) | Joubert Syndrome |
TMEM165 | Congenital disorder of glycosylation, type IIk (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
TMEM199 | Congenital disorder of glycosylation, type IIp (AR) | |
TMEM216 | Joubert syndrome 2 (AR) Meckel syndrome 2 (AR) | Joubert Syndrome |
TMEM231 | Joubert syndrome 20 (AR) Meckel syndrome 11 (AR) | Joubert Syndrome |
TMEM237 | Joubert syndrome 14 (AR) | Joubert Syndrome |
TMEM43 | Arrhythmogenic right ventricular dysplasia 5 (AD) Emery-Dreifuss muscular dystrophy 7, AD (AD) | Arrhythmogenic Right Ventricular Cardiomyopathy |
TMEM67 | Nephronophthisis 11 (AR) Joubert syndrome 6 (AR) Meckel syndrome 3 (AR) COACH syndrome 1 (AR) | Joubert Syndrome Nephronophthisis |
TMEM70 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (AR) | |
TMEM94 | Intellectual developmental disorder with cardiac defects and dysmorphic facies (AR) | |
TMIE | Deafness, autosomal recessive 6 (AR) | Hereditary Hearing Loss and Deafness Overview |
TMPRSS3 | Deafness, autosomal recessive 8/10 (AR) | Hereditary Hearing Loss and Deafness Overview |
TMPRSS6 | Iron-refractory iron deficiency anemia (AR) | |
TMTC3 | Lissencephaly 8 (AR) | |
TMX2 | Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (AR) | |
TNFRSF11B | Paget disease of bone 5, juvenile-onset (AR) | |
TNFRSF13B | Immunodeficiency, common variable, 2 (AR) Immunodeficiency, common variable, 2 (AD) | |
TNFSF11 | Osteopetrosis, autosomal recessive 2 (AR) | |
TNNI2 | Arthrogryposis, distal, type 2B1 (AD) | |
TNNT1 | Nemaline myopathy 5, Amish type (AR) | |
TNNT3 | Arthrogryposis, distal, type 2B2 (AD) | |
TOE1 | Pontocerebellar hypoplasia, type 7 (AR) | |
TOP3A | Microcephaly, growth restriction, and increased sister chromatid exchange 2 (AR) | |
TP53 | {Adrenocortical carcinoma, pediatric} (AD) Li-Fraumeni syndrome (AD) {Colorectal cancer} (AD) Bone marrow failure syndrome 5 (AD) | Wilms Tumor Predisposition Li-Fraumeni Syndrome |
TP63 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (AD) Hay-Wells syndrome (AD) Split-hand/foot malformation 4 (AD) Rapp-Hodgkin syndrome (AD) ADULT syndrome (AD) Limb-mammary syndrome (AD) | TP63-Related Disorders |
TPI1 | Hemolytic anemia due to triosephosphate isomerase deficiency (AR) | |
TPK1 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) (AR) | |
TPM2 | Arthrogryposis, distal, type 2B4 (AD) Arthrogryposis, distal, type 1A (AD) Nemaline myopathy 4, autosomal dominant (AD) CAP myopathy 2 (AD) | |
TPM3 | CAP myopathy 1 (AD) Myopathy, congenital, with fiber-type disproportion (AD) Nemaline myopathy 1, autosomal dominant or recessive (AD) | |
TPO | Thyroid dyshormonogenesis 2A (AR) | |
TPP1 | Ceroid lipofuscinosis, neuronal, 2 (AR) Spinocerebellar ataxia, autosomal recessive 7 (AR) | |
TRAPPC11 | Muscular dystrophy, limb-girdle, autosomal recessive 18 (AR) | |
TRAPPC2 | Spondyloepiphyseal dysplasia tarda (XLR) | X-Linked Spondyloepiphyseal Dysplasia Tarda |
TRAPPC4 | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (AR) | |
TRAPPC9 | Mental retardation, autosomal recessive 13 (AR) | |
TREX1 | Aicardi-Goutieres syndrome 1, dominant and recessive (AR) Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations (AD) Aicardi-Goutieres syndrome 1, dominant and recessive (AD) Chilblain lupus (AD) | Aicardi-Goutieres Syndrome Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations |
TRIM2 | Charcot-Marie-Tooth disease, type 2R (AR) | Charcot-Marie-Tooth Hereditary Neuropathy Overview |
TRIM32 | Muscular dystrophy, limb-girdle, autosomal recessive 8 (AR) | Bardet-Biedl Syndrome Overview |
TRIM37 | Mulibrey nanism (AR) | |
TRIO | Intellectual developmental disorder, autosomal dominant 44, with microcephaly (AD) Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (AD) | TRIO-Related Intellectual Disability |
TRIOBP | Deafness, autosomal recessive 28 (AR) | Hereditary Hearing Loss and Deafness Overview |
TRIP11 | Odontochondrodysplasia 1 (AR) Achondrogenesis, type IA (AR) | |
TRIP12 | Mental retardation, autosomal dominant 49 (AD) | |
TRIP13 | Oocyte maturation defect 9 (AR) Mosaic variegated aneuploidy syndrome 3 (AR) | |
TRIP4 | Spinal muscular atrophy with congenital bone fractures 1 (AR) | |
TRIT1 | Combined oxidative phosphorylation deficiency 35 (AR) | |
TRMT1 | Intellectual developmental disorder, autosomal recessive 68 (AR) | |
TRMT10A | Microcephaly, short stature, and impaired glucose metabolism 1 (AR) | |
TRMU | Liver failure, transient infantile (AR) | |
TRNT1 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (AR) Retinitis pigmentosa and erythrocytic microcytosis (AR) | |
TRPM1 | |
TRPM4 | Progressive familial heart block, type IB (AD) Erythrokeratodermia veriabilis et progressiva 6 (AD) | Brugada Syndrome |
TRPM6 | Hypomagnesemia 1, intestinal (AR) | |
TRPS1 | Trichorhinophalangeal syndrome, type III (AD) Trichorhinophalangeal syndrome, type I (AD) | Trichorhinophalangeal Syndrome |
TRPV3 | Olmsted syndrome 1 (AD) | |
TRPV4 | Spondylometaphyseal dysplasia, Kozlowski type (AD) Digital arthropathy-brachydactyly, familial (AD) SED, Maroteaux type (AD) Metatropic dysplasia (AD) Scapuloperoneal spinal muscular atrophy (AD) Hereditary motor and sensory neuropathy, type IIc (AD) Neuronopathy, distal hereditary motor, type VIII (AD) Parastremmatic dwarfism (AD) Brachyolmia type 3 (AD) | Autosomal Dominant TRPV4 Disorders |
TRPV6 | Hyperparathyroidism, transient neonatal (AR) | Pancreatitis Overview |
TRRAP | Developmental delay with or without dysmorphic facies and autism (AD) | |
TSC1 | Tuberous sclerosis-1 (AD) | Tuberous Sclerosis Complex |
TSC2 | Tuberous sclerosis-2 (AD) | Tuberous Sclerosis Complex |
TSEN15 | Pontocerebellar hypoplasia, type 2F (AR) | |
TSEN2 | Pontocerebellar hypoplasia type 2B (AR) | |
TSEN54 | Pontocerebellar hypoplasia type 2A (AR) Pontocerebellar hypoplasia type 4 (AR) | TSEN54 Pontocerebellar Hypoplasia |
TSFM | Combined oxidative phosphorylation deficiency 3 (AR) | |
TSHB | Hypothyroidism, congenital, nongoitrous 4 (AR) | |
TSHR | Hypothyroidism, congenital, nongoitrous, 1 (AR) Hyperthyroidism, familial gestational (AD) Hyperthyroidism, nonautoimmune (AD) | |
TSPAN7 | Intellectual developmental disorder, X-linked 58 (XLR) | |
TSPYL1 | Sudden infant death with dysgenesis of the testes syndrome (AR) | |
TTC19 | Mitochondrial complex III deficiency, nuclear type 2 (AR) | |
TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly (AR) Nephronophthisis 12 (AR) Nephronophthisis 12 (AD) | Joubert Syndrome Nephronophthisis |
TTC26 | Biliary, renal, neurologic, and skeletal syndrome (AR) | |
TTC37 | Trichohepatoenteric syndrome 1 (AR) | Trichohepatoenteric Syndrome |
TTC7A | Gastrointestinal defects and immunodeficiency syndrome (AR) | |
TTC8 | Bardet-Biedl syndrome 8 (AR) | Bardet-Biedl Syndrome Overview Nonsyndromic Retinitis Pigmentosa Overview |
TTN | Muscular dystrophy, limb-girdle, autosomal recessive 10 (AR) Salih myopathy (AR) | Dilated Cardiomyopathy Overview Udd Distal Myopathy - Tibial Muscular Dystrophy Salih Myopathy Hereditary Myopathy with Early Respiratory Failure |
TTPA | Ataxia with isolated vitamin E deficiency (AR) | Ataxia with Vitamin E Deficiency |
TTR | Amyloidosis, hereditary, transthyretin-related (AD) Carpal tunnel syndrome, familial (AD) [Dystransthyretinemic hyperthyroxinemia] (AD) | Hereditary Transthyretin Amyloidosis |
TUBA1A | Lissencephaly 3 (AD) | Tubulinopathies Overview |
TUBA8 | |
TUBB | Symmetric circumferential skin creases, congenital, 1 (AD) Cortical dysplasia, complex, with other brain malformations 6 (AD) | Tubulinopathies Overview |
TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 (AD) | Tubulinopathies Overview |
TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 (AD) | Congenital Fibrosis of the Extraocular Muscles Overview Tubulinopathies Overview |
TUBB3 | Fibrosis of extraocular muscles, congenital, 3A (AD) Cortical dysplasia, complex, with other brain malformations 1 (AD) | Congenital Fibrosis of the Extraocular Muscles Overview Tubulinopathies Overview |
TUBB4A | Dystonia 4, torsion, autosomal dominant (AD) Leukodystrophy, hypomyelinating, 6 (AD) | TUBB4A-Related Leukodystrophy |
TUBG1 | Cortical dysplasia, complex, with other brain malformations 4 (AD) | |
TUBGCP2 | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (AR) | |
TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive, 1 (AR) | |
TUFM | Combined oxidative phosphorylation deficiency 4 (AR) | |
TUSC3 | Mental retardation, autosomal recessive 7 (AR) | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
TWIST1 | Craniosynostosis 1 (AD) Robinow-Sorauf syndrome (AD) Sweeney-Cox syndrome (AD) Saethre-Chotzen syndrome with or without eyelid anomalies (AD) | Saethre-Chotzen Syndrome |
TWIST2 | Focal facial dermal dysplasia 3, Setleis type (AR) Ablepharon-macrostomia syndrome (AD) Barber-Say syndrome (AD) | |
TWNK | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) (AR) Perrault syndrome 5 (AR) | Infantile-Onset Spinocerebellar Ataxia Perrault Syndrome |
TXNL4A | Burn-McKeown syndrome (AR) | Burn-McKeown Syndrome |
TYMP | Mitochondrial DNA depletion syndrome 1 (MNGIE type) (AR) | Mitochondrial Neurogastrointestinal Encephalopathy Disease |
TYR | Albinism, oculocutaneous, type IB (AR) Albinism, oculocutaneous, type IA (AR) | |
TYRP1 | Albinism, oculocutaneous, type III (AR) | |
UBA1 | Spinal muscular atrophy, X-linked 2, infantile (XLR) | Spinal Muscular Atrophy, X-Linked Infantile |
UBA5 | Developmental and epileptic encephalopathy 44 (AR) | |
UBE2A | Intellectual developmental disorder, X-linked syndromic, Nascimento type (XLR) | |
UBE2T | Fanconi anemia, complementation group T (AR) | Fanconi Anemia |
UBE3A | Angelman syndrome (AD) | Angelman Syndrome Prader-Willi Syndrome |
UBE3B | Kaufman oculocerebrofacial syndrome (AR) | Kaufman Oculocerebrofacial Syndrome |
UBR1 | Johanson-Blizzard syndrome (AR) | Pancreatitis Overview |
UBTF | Neurodegeneration, childhood-onset, with brain atrophy (AD) | |
UFC1 | Neurodevelopmental disorder with spasticity and poor growth (AR) | |
UFM1 | Leukodystrophy, hypomyelinating, 14 (AR) | |
UGDH | Developmental and epileptic encephalopathy 84 (AR) | |
UGP2 | Developmental and epileptic encephalopathy 83 (AR) | |
UGT1A1 | Crigler-Najjar syndrome, type I (AR) Hyperbilirubinemia, familial transient neonatal (AR) Crigler-Najjar syndrome, type II (AR) [Gilbert syndrome] (AR) | |
UMOD | Tubulointerstitial kidney disease, autosomal dominant, 1 (AD) | Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD |
UMPS | Orotic aciduria (AR) | |
UNC13D | Hemophagocytic lymphohistiocytosis, familial, 3 (AR) | Familial Hemophagocytic Lymphohistiocytosis |
UNC80 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (AR) | UNC80 Deficiency |
UPB1 | Beta-ureidopropionase deficiency (AR) | |
UPF3B | Intellectual developmental disorder, X-linked syndromic 14 (XLR) | |
UQCC2 | Mitochondrial complex III deficiency, nuclear type 7 (AR) | |
UQCRC2 | Mitochondrial complex III deficiency, nuclear type 5 (AR) | |
UROC1 | |
UROD | Porphyria, hepatoerythropoietic (AR) Porphyria cutanea tarda (AR) | Familial Porphyria Cutanea Tarda Hepatoerythropoietic Porphyria |
UROS | Porphyria, congenital erythropoietic (AR) | Congenital Erythropoietic Porphyria |
USB1 | Poikiloderma with neutropenia (AR) | Poikiloderma with Neutropenia |
USH1C | Usher syndrome, type 1C (AR) Deafness, autosomal recessive 18A (AR) | Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview |
USH1G | Usher syndrome, type 1G (AR) | Usher Syndrome Type I |
USH2A | Usher syndrome, type 2A (AR) | Usher Syndrome Type II Nonsyndromic Retinitis Pigmentosa Overview |
USP18 | Pseudo-TORCH syndrome 2 (AR) | |
USP53 | Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss (AR) | |
USP9X | Intellectual developmental disorder, X-linked 99, syndromic, female-restricted (XLD) Intellectual developmental disorder, X-linked 99 (XLR) | |
UVSSA | UV-sensitive syndrome 3 (AR) | |
VAMP1 | Myasthenic syndrome, congenital, 25 (AR) Spastic ataxia 1, autosomal dominant (AD) | |
VAMP2 | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (AD) | |
VANGL1 | Caudal regression syndrome (AD) | |
VARS2 | Combined oxidative phosphorylation deficiency 20 (AR) | |
VCAN | Wagner syndrome 1 (AD) | VCAN-Related Vitreoretinopathy |
VCP | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (AD) Charcot-Marie-Tooth disease, type 2Y (AD) Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (AD) | Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia |
VDR | Rickets, vitamin D-resistant, type IIA (AR) | |
VHL | von Hippel-Lindau syndrome (AD) Pheochromocytoma (AD) | Von Hippel-Lindau Syndrome |
VIPAS39 | Arthrogryposis, renal dysfunction, and cholestasis 2 (AR) | |
VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (AR) | VLDLR Cerebellar Hypoplasia |
VPS13A | Choreoacanthocytosis (AR) | Chorea-Acanthocytosis |
VPS13B | Cohen syndrome (AR) | Cohen Syndrome |
VPS33B | Arthrogryposis, renal dysfunction, and cholestasis 1 (AR) | |
VPS37A | Spastic paraplegia 53, autosomal recessive (AR) | |
VPS41 | Spinocerebellar ataxia, autosomal recessive 29 (AR) | |
VPS45 | Neutropenia, severe congenital, 5, autosomal recessive (AR) | |
VPS53 | Pontocerebellar hypoplasia, type 2E (AR) | |
VRK1 | Pontocerebellar hypoplasia type 1A (AR) | |
VSX2 | Microphthalmia with coloboma 3 (AR) | |
WAC | Desanto-Shinawi syndrome (AD) | WAC-Related Intellectual Disability |
WAS | Wiskott-Aldrich syndrome (XLR) Neutropenia, severe congenital, X-linked (XLR) Thrombocytopenia, X-linked, intermittent (XLR) Thrombocytopenia, X-linked (XLR) | WAS-Related Disorders |
WASF1 | Neurodevelopmental disorder with absent language and variable seizures (AD) | |
WDFY3 | |
WDPCP | Congenital heart defects, hamartomas of tongue, and polysyndactyly (AR) | Bardet-Biedl Syndrome Overview |
WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia (AD) | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
WDR19 | Nephronophthisis 13 (AR) Senior-Loken syndrome 8 (AR) ?Cranioectodermal dysplasia 4 (AR) | Cranioectodermal Dysplasia Nephronophthisis |
WDR26 | Skraban-Deardorff syndrome (AD) | WDR26-Related Intellectual Disability |
WDR34 | |
WDR35 | Short-rib thoracic dysplasia 7 with or without polydactyly (AR) Cranioectodermal dysplasia 2 (AR) | Cranioectodermal Dysplasia |
WDR37 | Neurooculocardiogenitourinary syndrome (AD) | |
WDR45 | Neurodegeneration with brain iron accumulation 5 (XLD) | Neurodegeneration with Brain Iron Accumulation Disorders Overview Beta-Propeller Protein-Associated Neurodegeneration |
WDR45B | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (AR) | |
WDR60 | |
WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (AR) | WDR62 Primary Microcephaly |
WDR73 | Galloway-Mowat syndrome 1 (AR) | |
WDR81 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (AR) Hydrocephalus, congenital, 3, with brain anomalies (AR) | |
WFS1 | Wolfram syndrome 1 (AR) | Hereditary Hearing Loss and Deafness Overview WFS1 Wolfram Syndrome Spectrum Disorder |
WHRN | Deafness, autosomal recessive 31 (AR) Usher syndrome, type 2D (AR) | Usher Syndrome Type II Hereditary Hearing Loss and Deafness Overview |
WNK1 | Neuropathy, hereditary sensory and autonomic, type II (AR) Pseudohypoaldosteronism, type IIC (AD) | Hereditary Sensory and Autonomic Neuropathy Type II Pseudohypoaldosteronism Type II |
WNT1 | Osteogenesis imperfecta, type XV (AR) | |
WNT10A | Schopf-Schulz-Passarge syndrome (AR) Tooth agenesis, selective, 4 (AR) Odontoonychodermal dysplasia (AR) Tooth agenesis, selective, 4 (AD) | Hypohidrotic Ectodermal Dysplasia |
WNT10B | Split-hand/foot malformation 6 (AR) Tooth agenesis, selective, 8 (AD) | |
WNT3 | |
WNT4 | |
WNT5A | Robinow syndrome, autosomal dominant 1 (AD) | Autosomal Dominant Robinow Syndrome |
WNT7A | Fuhrmann syndrome (AR) Ulna and fibula, absence of, with severe limb deficiency (AR) | |
WRAP53 | Dyskeratosis congenita, autosomal recessive 3 (AR) | Dyskeratosis Congenita |
WRN | Werner syndrome (AR) | Werner Syndrome |
WT1 | Meacham syndrome (AD) Frasier syndrome (AD) Nephrotic syndrome, type 4 (AD) Denys-Drash syndrome (AD) Wilms tumor, type 1 (AD) | Wilms Tumor Predisposition PAX6-Related Aniridia WT1 Disorder |
WWOX | Developmental and epileptic encephalopathy 28 (AR) Spinocerebellar ataxia, autosomal recessive 12 (AR) | |
XIAP | Lymphoproliferative syndrome, X-linked, 2 (XLR) | Lymphoproliferative Disease, X-Linked |
XPA | Xeroderma pigmentosum, group A (AR) | Xeroderma Pigmentosum |
XPC | Xeroderma pigmentosum, group C (AR) | Xeroderma Pigmentosum |
XRCC4 | Short stature, microcephaly, and endocrine dysfunction (AR) | |
XYLT1 | Desbuquois dysplasia 2 (AR) | |
XYLT2 | Spondyloocular syndrome (AR) | |
YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation (AD) | |
YARS2 | Myopathy, lactic acidosis, and sideroblastic anemia 2 (AR) | |
YIF1B | Kaya-Barakat-Masson syndrome (AR) | |
YWHAG | Developmental and epileptic encephalopathy 56 (AD) | |
YY1 | Gabriele-de Vries syndrome (AD) | Gabriele-de Vries Syndrome |
ZAP70 | Immunodeficiency 48 (AR) Autoimmune disease, multisystem, infantile-onset, 2 (AR) | ZAP70-Related Combined Immunodeficiency |
ZBTB18 | Mental retardation, autosomal dominant 22 (AD) | |
ZBTB20 | Primrose syndrome (AD) | Primrose Syndrome |
ZBTB24 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (AR) | |
ZC3H14 | Intellectual developmental disorder, autosomal recessive 56 (AR) | |
ZC4H2 | Wieacker-Wolff syndrome, female-restricted (XLD) Wieacker-Wolff syndrome (XLR) | |
ZDHHC9 | Mental retardation, X-linked syndromic, Raymond type (XLR) | |
ZEB2 | Mowat-Wilson syndrome (AD) | Mowat-Wilson Syndrome |
ZFP57 | Diabetes mellitus, transient neonatal 1 (AD) | Diabetes Mellitus, 6q24-Related Transient Neonatal |
ZFPM2 | 46XY sex reversal 9 (AD) Tetralogy of Fallot (AD) | |
ZFYVE26 | Spastic paraplegia 15, autosomal recessive (AR) | Spastic Paraplegia 15 |
ZIC1 | Structural brain anomalies with impaired intellectual development and craniosynostosis (AD) | |
ZIC2 | Holoprosencephaly 5 (AD) | Holoprosencephaly Overview |
ZIC3 | Congenital heart defects, nonsyndromic, 1, X-linked (XLR) Heterotaxy, visceral, 1, X-linked (XLR) VACTERL association, X-linked (XLR) | |
ZMIZ1 | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (AD) | |
ZMPSTE24 | Mandibuloacral dysplasia with type B lipodystrophy (AR) Restrictive dermopathy, lethal (AR) | |
ZMYND10 | Ciliary dyskinesia, primary, 22 (AR) | Primary Ciliary Dyskinesia |
ZMYND11 | Mental retardation, autosomal dominant 30 (AD) | |
ZNF335 | Microcephaly 10, primary, autosomal recessive (AR) | |
ZNF423 | Nephronophthisis 14 (AR) Joubert syndrome 19 (AR) Nephronophthisis 14 (AD) Joubert syndrome 19 (AD) | Joubert Syndrome Nephronophthisis |
ZNF462 | Weiss-Kruszka syndrome (AD) | Weiss-Kruszka Syndrome |
ZNF469 | Brittle cornea syndrome 1 (AR) | |
ZNF711 | Intellectual developmental disorder, X-linked 97 (XLR) | |
ZNHIT3 | PEHO syndrome (AR) | |
