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The A2ML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (OMIM# 610627; PMID: 24939586).
The AAGAB gene is associated with autosomal dominant keratosis palmoplantaris papulosa (MedGen UID: 372099).
The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 908570). Additionally, the AARS gene has preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids 2 (MedGen UID: 990467) and autosomal dominant Nonphotosensitive trichothiodystrophy 8 (Medgen UID: 990154 ).
The AARS2 gene is associated with autosomal recessive progressive leukoencephalopathy with ovarian failure (LKENP) (MedGen UID: 863025), and autosomal recessive combined oxidative phosphorylation deficiency 8 (COXPD8) (MedGen UID: 481423).
The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (MedGen UID: 137977).
The ABCA1 gene is associated with autosomal recessive Tangier disease (MedGen UID: 52644). Additionally, the ABCA1 gene has preliminary evidence supporting a correlation with autosomal dominant high-density lipoprotein (HDL) deficiency (MedGen UID: 352844).
The ABCA12 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 108615, 371355).
The ABCA3 gene is associated with a spectrum of autosomal recessive pulmonary diseases, including pulmonary surfactant metabolism dysfunction (MedGen UID: 410074), pediatric interstitial lung disease (PMID: 15976379), and pulmonary fibrosis (PMID: 24730976), and with autosomal dominant cataract-microcornea syndrome (PMID: 25406294).
The ABCA4 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 349030), Stargardt disease (STGD) (MedGen UID: 383691), and retinitis pigmentosa (RP) (MedGen UID: 400996). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration (ARMD) (PMID: 10880298).
The ABCB6 gene has preliminary evidence supporting a correlation with autosomal dominant microphthalmia (PMID: 22226084, 30653986).
The ABCC6 gene is associated with autosomal recessive pseudoxanthoma elasticum (PXE) (MedGen UID: 18733) and generalized arterial calcification of infancy (GACI) (MedGen UID: 477791).
The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647) and dilated cardiomyopathy (DCM) (MedGen UID: 325268). Additionally, the ABCC9 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24439875), atrial fibrillation (MedGen UID: 334469), and autosomal recessive intellectual disability and myopathy syndrome (PMID: 31575858).
The ABCD1 gene is associated with X-linked adrenoleukodystrophy (X-ALD) (MedGen UID: 57667).
The ABCD4 gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin J (cblJ) deficiency (PMID: 22922874).
The ABHD12 gene is associated with autosomal recessive polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) (MedGen UID: 436373).
The ABHD5 gene is associated with autosomal recessive Chanarin-Dorfman syndrome (CDS) (MedGen UID: 82780).
The ABL1 gene is associated with an autosomal dominant congenital heart defects and skeletal malformations syndrome (MedGen UID: 1618340).
The ACADM gene is associated with autosomal recessive medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).
The ACADS gene is associated with autosomal recessive short chain acyl-CoA dehydrogenase (SCAD) deficiency (MedGen UID: 90998), a biochemical phenotype which may or may not result in a clinical condition.
The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).
The ACAN gene is associated with a spectrum of autosomal dominant skeletal conditions ranging from nonsyndromic short stature (MedGen UID: 777109) to spondyloepiphyseal dysplasia, Kimberley type (SEDK) (MedGen UID: 330777), and autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 411237).
The ACAT1 gene is associated with autosomal recessive beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).
The ACBD5 gene is associated with an autosomal recessive syndrome involving cone-rod dystrophy and white matter disease (PMID: 23105016, 27799409).
The ACD gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 904824).
The ACE gene is associated with autosomal recessive renal tubular dysgenesis (MedGen UID: 82738).
The ACER3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with leukodystrophy (MedGen UID 1622324).
The ACO2 gene is associated with autosomal dominant optic atrophy (PMID: 34056600) and autosomal recessive infantile cerebellar-retinal degeneration (ICRD) (MedGen UID: 482822). Additionally, the ACO2 gene has preliminary evidence supporting a correlation with autosomal recessive optic atrophy (PMID: 34056600) and epilepsy (PMID: 26795593).
The ACOX1 gene is associated with autosomal recessive acyl-CoA oxidase deficiency (also known as pseudoneonatal adrenoleukodystrophy) (MedGen UID: 376636) and autosomal dominant axonal neuropathy (also known as Mitchell syndrome) (MedGen UID: 1714342).
The ACP5 gene is associated with autosomal recessive spondyloenchondrodysplasia with immune dysregulation (SED) (MedGen UID: 375009).
The ACSF3 gene is associated with autosomal recessive combined malonic and methylmalonic aciduria (CMAMMA) (PMID: 21841779), a biochemical phenotype which may or may not result in a clinical condition.
The ACTA2 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 435866). Other ACTA2-related conditions have been reported (MedGen UID: 462551).
The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (MedGen UID: 339494). Additionally, the ACTB gene has preliminary evidence supporting a correlation with an autosomal dominant syndrome involving intellectual disability, behavioral and skeletal abnormalities, and microcephaly (PMID: 29220674, 31898838).
The ACTC1 gene is associated with autosomal dominant atrial septal defects (ASD) (MedGen UID: 412580), hypertrophic cardiomyopathy (HCM) (MedGen UID: 436962), dilated cardiomyopathy (DCM) (MedGen UID: 462031), left ventricular noncompaction (LVNC) (MedGen UID: 349005) and distal arthrogryposis (MedGen UID: 120512).
The ACTG1 gene is associated with autosomal dominant deafness (MedGen UID: 346852) and Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 482865).
The ACTN4 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 1636833).
The ACVR1 gene is associated with autosomal dominant fibrodysplasia ossificans progressiva (FOP) (MedGen UID: 4698).
The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).
The ACY1 gene is associated with autosomal recessive aminoacylase-1 deficiency (MedGen UID: 324393).
The ADA2 gene is associated with autosomal recessive deficiency of adenosine deaminase 2 (DADA2) (MedGen UID: 1659861).
The ADAM9 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 244692).
The ADAMTS10 gene is associated with autosomal recessive Weill-Marchesani syndrome (WMS) (MedGen UID: 358270).
The ADAMTS13 gene is associated with Upshaw-Schulman syndrome, also known as autosomal recessive congenital thrombotic thrombocytopenic purpura (TTP) due to ADAMTS13 deficiency (MedGen UID: 224783).
The ADAMTS17 gene is associated with autosomal recessive Weill-Marchesani-like syndrome (MedGen UID: 416383).
The ADAMTS18 gene is associated with autosomal recessive microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) (MedGen UID: 815897).
The ADAMTS2 gene is associated with autosomal recessive Ehlers-Danlos syndrome type VIIC (EDS VIIC) (MedGen UID: 397792).
The ADAMTS9 gene is associated with autosomal recessive Joubert syndrome (PMID: 30609407, 34750010).
The ADAMTSL4 gene is associated with autosomal recessive isolated ectopia lentis (MedGen UID: 762100).
The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071) and autosomal recessive Aicardi Goutieres syndrome (AGS) (MedGen UID: 761287).
The ADCY1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (MedGen UID: 341854).
The ADCY10 gene is associated with autosomal dominant familial idiopathic hypercalciuria (MedGen UID: 137974). Additionally, the ADCY10 gene has preliminary evidence supporting a correlation with autosomal recessive male infertility (PMID: 31119281).
The ADCY5 gene is associated with autosomal dominant ADCY5-related dyskinesia (MedGen UID: 338280) and an autosomal recessive dystonia syndrome (PMID: 30975617).
The ADD3 gene is associated with autosomal recessive spastic quadriplegic cerebral palsy (MedGen UID: 934734).
The ADGRA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 23105016, 24938718).
The ADGRG1 gene is associated with autosomal recessive polymicrogyria (MedGen UID: 816735, 376107).
The ADGRV1 gene (also known as GPR98) is associated with autosomal recessive Usher syndrome type 2C (MedGen UID: 419359), retinitis pigmentosa (PMID: 30718709, 31047384) and nonsyndromic deafness (PMID: 32467589, 26226137, 31379920). Additionally, the ADGRV1 gene has preliminary evidence supporting a correlation with autosomal dominant epilepsy (PMID: 29266188).
The ADIPOR1 gene is associated with autosomal dominant retinitis pigmentosa (PMID: 27655171). Additionally, the ADIPOR1 gene has preliminary evidence supporting a correlation with autosomal recessive syndromic retinitis pigmentosa (PMID: 26662040).
The ADK gene is associated with autosomal recessive adenosine kinase deficiency (MedGen UID: 482011).
The ADNP gene is associated with autosomal dominant Helsmoortel-Van der Aa syndrome (HVDAS) (MedGen UID: 862975).
The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641).
The AEBP1 gene is associated with autosomal recessive classical-like Ehlers-Danlos syndrome type 2 (MedGen UID: 1632001).
The AFF4 gene is associated with autosomal dominant CHOPS syndrome (cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia) (MedGen UID: 894554).
The AFG3L2 gene is associated with autosomal dominant spinocerebellar ataxia 28 (SCA28) (MedGen UID: 339941) and autosomal recessive spastic ataxia 5 (SPAX5) (MedGen UID: 482607).
The AGA gene is associated with autosomal recessive aspartylglucosaminuria (AGU) (MedGen UID: 78649).
The AGAP1 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal dominant autism spectrum disorder (PMID: 30472483) and cerebral palsy (PMID: 31700678, 25666757).
The AGBL5 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934726).
The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID: 395228). Additionally, the AGK gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic congenital cataracts (PMID: 22415731).
The AGPAT2 gene is associated with autosomal recessive congenital generalized lipodystrophy, type 1(CGL1) (MedGen UID: 318592).
The AGPS gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 3 (RCDP) (MedGen UID: 374012).
The AGT gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).
The AGTR1 gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).
The AGXT gene is associated with autosomal recessive primary hyperoxaluria, type 1 (PH1) (MedGen UID: 75658).
The AHDC1 gene is associated with autosomal dominant Xia-Gibbs syndrome (MedGen UID: 862856).
The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28442542, 29186038).
The AHR gene is associated with autosomal recessive inherited retinal dystrophy with or without foveal hypoplasia (MedGen UID: 941270).
The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Cowchock syndrome (MedGen UID: 162891), X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350), X-linked deafness-5 (MedGen UID: 335096) and X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (MedGen UID: 463103).
The AIMP1 gene is associated with autosomal recessive hypomyelinating leukodystrophy 3 (HLD3) (MedGen UID: 342403).
The AIMP2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-17 (HLD17) (MedGen UID: 1644557).
The AIP gene is associated with predisposition to autosomal dominant familial isolated pituitary adenoma (FIPA) (MedGen UID: 489979).
The AIPL1 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346808), cone-rod dystrophy (MedGen UID: 416625), and retinitis pigmentosa (PMID: 33067476).
The AK7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive male infertility (MedGen UID:Ā 1634748). Other AK7-related conditions have been reported (PMID: 22801010).
The AKT2 gene is associated with autosomal dominant hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MedGen UID: 343429). Additionally, the AKT2 gene has preliminary evidence supporting a correlation with autosomal dominant diabetes mellitus, type II (MedGen UID: 41523).
The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863175) and autosomal dominant microcephaly (PMID: 32827175, 21800092).
The ALB gene is associated with autosomal recessive analbuminemia (MedGen UID: 164210), and autosomal dominant dysalbuminemic hyperthyroxinemia (MedGen UID: 90974).
The ALDH18A1 gene is associated with autosomal dominant and recessive forms of cutis laxa (ADCL3 and ARCL3A, respectively) (MedGen UID: 899774, 1720006), the latter of which is also known as pyrroline-5-carboxylate synthetase (P5CS) deficiency. The ALDH18A1 gene is also associated with autosomal dominant and recessive forms of spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 909058).
The ALDH1A3 gene is associated with autosomal recessive isolated microphthalmia-8 (MCOP8) (MedGen UID: 767438).
The ALDH3A2 gene is associated with autosomal recessive Sjƶgren-Larsson syndrome (SLS) (MedGen UID: 11443).
The ALDH5A1 gene is associated with autosomal recessive succinic semialdehyde dehydrogenase (SSADH) deficiency (MedGen UID: 124340).
The ALDH6A1 gene is associated with autosomal recessive methylmalonate semialdehyde dehydrogenase deficiency (MedGen UID: 481470).
The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).
ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID 332969).
The ALG12 gene is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID 443954).
The ALG13 gene is associated with X-linked congenital disorder of glycosylation ALG13-CDG-Is (MedGen UID: 76469) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 763818).
The ALG2 gene is associated with autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 864034). Additionally, the ALG2 gene has preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii) (MedGen UID: 334618).
ALG3 is associated with autosomal recessive ALG3-congenital disorder of glycosylation (CDG-Id) (MedGen UID 322026).
The ALG6 gene is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID 400469).
The ALG8 gene is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID: 419692) and autosomal dominant polycystic kidney disease (MedGen UID: 1646969).
ALG9 is associated with autosomal recessive ALG9-congenital disorder of glycosylation (CDG-IL) (MedGen UID: 324794). Additionally, the ALG9 gene has preliminary evidence supporting a correlation with autosomal dominant polycystic kidney disease (PMID: 31395617).
The ALK gene is associated with autosomal dominant predisposition to neuroblastoma (MedGen UID: 414083).
The ALMS1 gene is associated with autosomal recessive Alstrƶm syndrome (MedGen UID: 78675).
The ALOX12B gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 854762).
The ALOXE3 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen UID: 383774).
The ALPL gene is associated with autosomal dominant and recessive hypophosphatasia (MedGen UID: 43799).
The ALS2 gene is associated with a spectrum of autosomal recessive conditions (MedGen UID: 489980): infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 419413), juvenile primary lateral sclerosis (JPLS) (MedGen UID: 342870), and juvenile amyotrophic lateral sclerosis 2 (ALS2) (MedGen UID: 349246).
The ALX1 gene is associated with autosomal recessive frontonasal dysplasia (MedGen UID: 462056).
The ALX3 gene is associated with autosomal recessive frontonasal dysplasia (MedGen UID: 406292).
The ALX4 gene is associated with autosomal dominant parietal foramina (MedGen UID: 355358) and autosomal recessive frontonasal dysplasia (MedGen UID: 462053). Additionally, the ALX4 gene has preliminary evidence supporting a correlation with autosomal dominant non-syndromic sagittal craniosynostosis (PMID: 34586326 )
The AMACR gene is associated with autosomal recessive alpha-methylacyl-CoA racemase (AMACR) deficiency (MedGen UID: 482058).
The AMER1 gene is associated with X-linked dominant osteopathia striata with cranial sclerosis (OSCS) (MedGen UID: 96590). Additionally, the AMER1 gene has preliminary evidence supporting a correlation with X-linked microtia-atresia (PMID: 33193662).
The AMH gene is associated with autosomal recessive persistent MĆ¼llerian duct syndrome (PMDS) (MedGen UID: 342367). Additionally, the AMH gene has preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism (PMID: 31291191).
The AMHR2 gene is associated with autosomal recessive persistent Mullerian duct syndrome (MedGen UID: 342367).
The AMN gene is associated with autosomal recessive Imerslund-GraĢsbeck syndrome (MedGen UID: 224934).
The AMPD2 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 9 (PCH9) (MedGen UID: 862791). Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (MedGen UID:816625).
The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The ANK3 gene is associated with an autosomal dominant intellectual disability syndrome (PMID: 28687526, 34218362), and an autosomal recessive intellectual disability syndrome (MedGen UID: 816002).
The ANKH gene is associated with autosomal dominant craniometaphyseal dysplasia (CMD) (MedGen UID: 338945) and chondrocalcinosis (MedGen UID: 163633).
The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317) and Cornelia de Lange Syndrome (CdLS) (PMID: 25652421, 25125236).
The ANKS6 gene is associated with autosomal recessive nephronophthisis (NPHP16) (MedGen UID: 815650).
The ANLN gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 863430). Additionally, the ANLN gene has preliminary evidence supporting a correlation with autosomal dominant branchioāotic syndrome (PMID: 30548429).
The ANO3 gene is associated with autosomal dominant dystonia 24 (DYT24) (MedGen UID: 767288).
The ANO5 gene is associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575). The ANO5 gene is also associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750).
The ANOS1 gene is associated with X-linked Kallmann syndrome (MedGen UID: 295872).
The ANTXR1 gene is associated with autosomal recessive GAPO syndrome (MedGen UID: 98034). Additionally, the ANTXR1 gene has preliminary evidence supporting a correlation with isolated tooth agenesis (PMID: 29436111).
The AP1S1 gene is associated with autosomal recessive intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, also known as MEDNIK syndrome (MedGen UID: 833683).
The AP1S2 gene is associated with X-linked recessive Pettigrew syndrome (MedGen UID: 162924).
The AP2M1 gene is associated with autosomal dominant intellectual disability and epilepsy (MedGen UID: 1684702).
The AP2S1 gene is associated with autosomal dominant familial hypocalciuric hypercalcemia type 3 (FHH3) (MedGen UID: 322173).
The AP3B1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 2 (MedGen UID: 374912).
The AP3B2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934604).
The AP3D1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 36313). Additionally, the AP3D1 gene has preliminary evidence supporting a correlation with autosomal dominant schizophrenia (PMID: 24463507) and autosomal dominant autism spectrum disorder (PMID: 25363768, 29346770).
The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).
The AP4E1 gene is associated with autosomal recessive hereditary spastic paraplegia 51 (SPG51) (MedGen UID: 462406).
The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869). Additionally, the AP4M1 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (PMID: 29473051).
The AP4S1 gene is associated with autosomal recessive hereditary spastic paraplegia 52 (SPG52) (MedGen UID: 481373).
The AP5Z1 gene is associated with autosomal recessive hereditary spastic paraplegia 48 (SPG48) (MedGen UID: 462251).
The APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651), attenuated FAP (AFAP) (MedGen UID: 436213), and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) (MedGen UID: 1657285).
The APC2 gene is associated with autosomal recessive complex cortical dysplasia with other brain malformations (MedGen UID: 1684859). Additionally, the APC2 gene has preliminary evidence supporting a correlation with autosomal recessive Sotos syndrome (MedGen UID: 934651).
The APCDD1 gene is associated with autosomal dominant generalized hereditary hypotrichosis simplex (MedGen UID: 1644234).
The APOA1 gene is associated with autosomal recessive apolipoprotein A-I (apo A-I) deficiency (MedGen UID: 945224) and autosomal dominant systemic amyloidosis (MedGen UID: 82799).
The APOC2 gene is associated with autosomal recessive apolipoprotein C-II (apo C-II) deficiency (MedGen UID: 328375), also known as familial chylomicronemia syndrome.
Specific variants in APOL1, commonly referred to as the āG1ā and āG2ā alleles, are associated with an increased risk for focal segmental glomerulosclerosis (FSGS) and other forms of kidney disease (PMID: 20647424, 20635188). Other variants in this gene do not have an established association with disease.
The APOPT1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The APP gene is associated with autosomal dominant Alzheimer disease type 1 (AD1) (MedGen UID: 1853) and APP-related cerebral amyloid angiopathy (CAA) (MedGen UID: 414044).
The APRT gene is associated with autosomal recessive adenine phosphoribosyltransferase (APRT) deficiency (MedGen UID: 82772).
The APTX gene is associated with autosomal recessive ataxia with oculomotor apraxia type 1 (AOA1) (MedGen UID: 395301).
The AQP2 gene is associated with autosomal dominant and autosomal recessive nephrogenic diabetes insipidus (MedGen UID: 289643).
The AQP5 gene is associated with autosomal dominant diffuse palmoplantar keratoderma, Bothnian type (MedGen UID: 325011).
The AR gene is associated with X-linked androgen insensitivity syndrome (AIS) (MedGen UID: 21102) and Kennedy spinal and bulbar muscular atrophy (SBMA) (MedGen UID: 333282). Kennedy SBMA disease-related polyglutamine repeat expansions are not currently analyzed by this assay.
The ARCN1 gene is associated with autosomal dominant rhizomelic short stature with microcephaly, micrognathia and developmental delay (SRMMD) (MedGen UID: 934653).
The ARFGEF2 gene is associated with autosomal recessive periventricular heterotopia (MedGen UID: 334110).
The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688).
The ARHGAP24 gene is associated with autosomal dominant nephrotic syndrome (MedGen UID: 890751).
The ARHGAP31 gene is associated with autosomal dominant Adams-Oliver syndrome (AOS) (MedGen UID: 472018). Additionally, the ARHGAP31 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular outflow tract obstruction (PMID: 27760138).
The ARHGDIA gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 815283).
The ARHGEF15 gene is associated with autosomal dominant cerebral small vessel disease with osteoporosis (PMID: 36929019). Additionally, the ARHGEF15 gene has preliminary evidence supporting a correlation with autosomal dominant developmental and epileptic encephalopathy (PMID: 23647072).
The ARHGEF18 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 1378790).
The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia /developmental and epileptic encephalopathy (DEE8) (MedGen UID: 375581).
The ARID1A gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 766161).
The ARID1B gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 482831).
The ARIH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant thoracic aortic aneurysm and dissection (PMID: 29689197).
The ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).
The ARL2BP is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 815833).
The ARL3 gene is associated with with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1648404), autosomal recessive RP (PMID: 31743939, 33748123), and autosomal recessive Joubert syndrome (MedGen UID: 1648453).
The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 462158).
The ARL6IP1 gene is associated with autosomal recessive hereditary spastic paraplegia 61 (SPG61) (MedGen UID: 816624).
The ARMC4 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815878).
The ARMC9 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 945537).
The ARNT2 gene is associated with autosomal recessive Webb-Dattani syndrome (MedGen UID: 863145).
The ARSA gene is associated with autosomal recessive metachromatic leukodystrophy (MLD) (MedGen UID: 6071). Biochemical testing for arylsulfatase A (ARSA) enzyme activity and urine sulfatides should be considered in individuals with clinical suspicion of metachromatic leukodystrophy (PMIDs: 4953831, 4192207, 6054756).
The ARSB gene is associated with autosomal recessive mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (MedGen UID: 44514).
The ARSL gene, also known as ARSE, is associated with X-linked recessive chondrodysplasia punctata (MedGen UID: 337102).
The ARSG gene is associated with autosomal recessive Usher syndrome (MedGen UID: 1648315).
The ARX gene is associated with X-linked recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832).
The ASAH1 gene is associated with autosomal recessive acid ceramidase deficiency, also known as Farber lipogranulomatosis or Farber disease (MedGen UID: 78654), distal osteolysis (PMID: 26945816), polyarticular arthritis and SMA (PMID: 27650050), and spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome (MedGen UID: 371854).
The ASB10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant primary open angle glaucoma (POAG) (PMID: 22156576).
The ASCC1 gene is associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 2 (SMABF2) (MedGen UID: 907910).
The ASL gene is associated with autosomal recessive argininosuccinate lyase deficiency (MedGen UID: 78687).
The ASNS gene is associated with autosomal recessive asparagine synthetase (ASNS) deficiency (MedGen UID: 816301).
The ASPA gene is associated with autosomal recessive Canavan disease (MedGen UID: 61565).
The ASPH gene is associated with autosomal recessive Traboulsi syndrome, also known as facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) (MedGen UID: 330396). Additionally, the ASPH gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia and/or exertional heat illness (PMID: 35697689).
The ASPM gene is associated with autosomal recessive primary microcephaly (MedGen UID: 373344).
The ASRGL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinal degeneration (PMID: 27106100).
The ASS1 gene is associated with autosomal recessive citrullinemia type I (MedGen UID: 104491).
The ASXL1 gene is associated with autosomal dominant Bohring-Opitz syndrome (BOS), which is also known as C-like syndrome (MedGen UID: 208678).
The ASXL2 gene is associated with autosomal dominant Shashi-Pena syndrome (MedGen UID: 934639).
The ATAD1 gene is associated with autosomal recessive hyperekplexia-4 (MedGen UID: 1642659).
The ATF6 gene is associated with autosomal recessive achromatopsia (ACHM) (MedGen UID: 904646).
The ATL1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1D (HSN1D) (MedGen UID: 462322). The ATL1 gene is also associated with autosomal dominant and recessive hereditary spastic paraplegia type 3A (SPG3A) (MedGen UID: 419393, PMID: 26888483).
The ATM gene is associated with autosomal dominant predisposition to breast, ovarian, pancreatic (PMID: 26483394, 28888541, 30733081), and prostate cancer (PMID: 27989354, 28657667). ATM is also associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). Additionally, the ATM gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to gastric (PMID: 26182300) and colon cancer (PMID: 30862463).
The ATOH7 gene is associated with autosomal recessive persistent hyperplastic primary vitreous (PHPVAR) (MedGen UID: 370100).
The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson disease 9 (PARK9), and autosomal recessive hereditary spastic paraplegia (SPG78) (MedGen UID: 934629). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive neuronal ceroid lipofuscinoses (PMID: 22388936) and amyotrophic lateral sclerosis (PMID: 30992063).
The ATP1A1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2DD (CMT2DD) (MedGen UID:1648475) and ATP1A1-related neurodevelopmental disorder (MedGen UID:1675904).
The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine type 2 (FHM2) (MedGen UID: 355962), alternating hemiplegia of childhood type 1 (AHC1) (MedGen UID: 762361), developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 27864847), and autosomal recessive fetal akinesia deformation sequence (PMID: 30690204). Additionally, the ATP1A2 gene has preliminary evidence supporting a correlation with autosomal dominant hypokalemic periodic paralysis (PMID: 30423015).
The ATP1A3 gene is associated with a spectrum of autosomal dominant neurological disorders ranging from autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood type 2 (AHC2) (MedGen UID: 766702).
The ATP2B2 gene is associated with autosomal dominant nonsyndromic deafness (PMID: 30535804). Additionally, the ATP2B2 gene has preliminary evidence supporting a correlation with an autosomal dominant intellectual disability syndrome with ataxia and brain abnormalities (PMID: 29655659) as well as an association with autosomal dominant autism (PMID: 29346770, 25363768).
The ATP2C1 gene is associated with autosomal dominant familial benign pemphigus, also known as Hailey-Hailey disease (MedGen UID: 43100).
The ATP5A1 gene is associated with autosomal dominant neonatal complex V deficiency (PMID: 34483339). In addition, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency-22 (COXPD22) (MedGen UID: 863499).
The ATP6AP2 gene is associated with X-linked intellectual disability with epilepsy (MRXE) (MedGen UID: 337257) and glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC) (PMID: 29127204). Additionally, the ATP6AP2 gene has preliminary evidence supporting a correlation with X-linked Parkinsonism with spasticity (PMID: 23595882, 26467484) and an infantile neurodegenerative condition (PMID: 30985297).
ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID 82795, 98030).
The ATP6V0A4 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) (MedGen UID: 351142).
The ATP6V1A gene is associated with autosomal dominant childhood onset epileptic encephalopathy (EEOC) (MedGen UID: 1626137) and autosomal recessive cutis laxa type IID (ARCL2D) (MedGen UID: 1376619).
The ATP6V1B1 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) with progressive nerve deafness (MedGen UID: 98336).
The ATP6V1E1 gene is associated with autosomal recessive cutis laxa type IIC (ARCL2C) (MedGen UID: 1385755).
The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).
The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).
The ATP8A2 gene is associated with autosomal recessive cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4) (MedGen UID: 815307).
The ATPAF2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (MedGen UID: 398105).
The ATR gene is associated with autosomal recessive Seckel syndrome 1 (MedGen UID: 830512). Additionally, the ATR gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to prostate (PMID: 27433846) and oropharyngeal cancer (PMID: 22341969).
The ATRIP gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Seckel syndrome (PMID: 23144622).
The ATRN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hypomyelinating leukodystrophy (PMID: 28493104).
The ATRX gene is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome (MedGen UID: 337145).
The AUH gene is associated with autosomal recessive 3-methylglutaconic aciduria type 1 (MedGen UID: 473073).
The AUTS2 gene is associated with autosomal dominant AUTS2 syndrome (MedGen UID: 862872).
The AVP gene is associated with autosomal dominant neurohypophyseal diabetes insipidus (MedGen UID: 146919).
The AVPR2 gene is associated with X-linked recessive nephrogenic diabetes insipidus (NDI) (MedGen UID: 288785) and nephrogenic syndrome of inappropriate antidiuresis (NSIAD) (MedGen UID: 336877).
The AXIN2 gene is associated with autosomal dominant oligodontia-colorectal cancer syndrome (MedGen UID: 324868).
The AXL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 87440).
The B2M gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class I deficiency (PMID: 25702838). Additionally, the B2M gene has preliminary evidence supporting a correlation with autosomal dominant amyloidosis (PMID: 22693999).
The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).
The B3GALT6 gene is associated with a spectrum of autosomal recessive conditions with features of both spondyloepimetaphyseal dysplasia (MedGen UID: 98148) and Ehlers-Danlos syndrome (MedGen UID: 815540).
The B3GAT3 gene is associated with the autosomal recessive multiple joint dislocations, short stature and craniofacial dysmorphism with or without congenital heart defects (JDSCD) (MedGen UID: 480034).
The B3GLCT gene is associated with autosomal recessive Peters-plus syndrome also known as B3GLCT-congenital disorder of glycosylation (Medgen UID: 163204).
The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (MedGen UID: 373138).
The B4GALT7 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 1 (MedGen UID: 1646889).
The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).
The B9D1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 934673).
The B9D2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122). Additionally, the BAP1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to meningioma (PMID: 28793149, 34628055, 34504799).
The BBIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 807640).
The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452) and non-syndromic retinitis pigmentosa (PMID: 23143442, 27032803, 21520335).
The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).
The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910). Additionally, the BBS12 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 31047384).
The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 906896).
The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 423627) and non-syndromic retinitis pigmentosa (PMID: 22219648, 26355662).
The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141) and nonsyndromic retinitis pigmentosa (PMID: 28041643, 24154662).
The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).
The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182). Additionally, the BBS9 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 28981474).
The BCAP31 gene is associated with X-linked recessive deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome (MedGen UID: 812964).
The BCAT2 gene is associated with autosomal recessive hypervalinemia or hyperleucine-isoleucinemia (Medgen UID: 1719306).
The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).
The BCKDHB gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).
The BCL11B gene is associated with autosomal dominant BCL11B deficiency (MedGen UID: 934623).
The BCOR gene is associated with spectrum including X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547) and retinal dystrophy (PMID: 36070393). In addition, the BCOR gene has preliminary evidence supporting a correlation with an X-linked recessive severe microphthalmia syndrome (PubMed: 26694549).
The BCS1L gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) (MedGen UID: 762097), Bjornstad syndrome (MedGen UID: 82728), and GRACILE syndrome (MedGen UID: 400428).
The BEST1 gene is associated with autosomal dominant vitreoretinochoroidopathy (ADVIRC) (MedGen UID: 854768), atypical vitelliform macular dystrophy (VMD1), also known as Best disease (MedGen UID: 1636950), and retinitis pigmentosa (MedGen UID: 442563). Additionally, the BEST1 gene is associated with autosomal recessive bestrophinopathy (ARB) (MedGen ID: 854806).
The BFSP1 gene is associated with autosomal dominant congenital cataracts (PMID: 24379646) and autosomal recessive congenital cataracts (MedGen UID: 814437).
The BFSP2 gene is associated with autosomal dominant and recessive congenital cataracts (MedGen UID: 814445, PMID: 21836522, 22935719).
The BGN gene is associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 376281) and X-linked thoracic aortic aneurysm and dissection (TAAD), with or without additional features, also known as Meester-Loeys syndrome (MedGen UID: 934778).
The BHLHA9 gene is associated with autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction (MedGen UID: 324459). Additionally, the BHLHA9 gene has preliminary evidence supporting a correlation with autosomal recessive complex camptosynpolydactyly (MedGen UID: 375276).
The BICC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with cystic renal dysplasia (PMID: 21922595, 28566479).
The BICD2 gene is associated with autosomal dominant spinal muscular atrophy, lower extremity predominant 2A (SMALED2A) (MedGen UID: 1669929) and 2B (SMALED2B) (MedGen UID: 1648362).
The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Additionally, the BLM gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (PMID: 12242432, 26358404).
The BLOC1S3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854728).
The BLOC1S6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 9 (MedGen UID: 481656).
The BMP1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 766801).
The BMP2 gene is associated with autosomal dominant short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (MedGen UID: 1635916). Additionally, the BMP2 gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly type A2 (MedGen UID: 318690).
The BMP4 gene is associated with autosomal dominant microphthalmia (MCOP) (MedGen UID: 355268). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693) tooth agenesis (PMID: 31128441), and Stickler syndrome (PMID: 30568244).
The BMP7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant conditions causing multiple congenital anomalies (PMID: 20506283, 30963139). Other BMP7-related conditions have been reported (PMID: 24429398).
The BMPER gene is associated with autosomal recessive diaphanospondylodysostosis (MedGen UID: 374993).
The BMPR1A gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518).
The BMPR1B gene is associated with autosomal recessive acromesomelic dysplasia (MedGen UID: 355199) and autosomal dominant brachydactyly (MedGen UID: 903193). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (MedGen UID: 57749) and ocular coloboma (PMID: 35034853).
The BNC2 gene is associated with autosomal dominant congenital lower urinary tract obstruction (LUTO) (MedGen UID: 945408).
The BOLA3 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 2 (MMDS2) (MedGen UID: 482008).
The BPTF gene is associated with an autosomal dominant neurodevelopmental syndrome with dysmorphic facies and distal limb anomalies (MedGen UID: 1627464).
The BRAF gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 462320), Noonan syndrome with Multiple Lentigines (NSML) (MedGen UID: 462321), and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 852267).
The BRAT1 gene is associated with a spectrum of autosomal recessive conditions including neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659) and neurodevelopmental disorder with cerebellar atrophy with or without seizures (NEDCAS) (MedGen UID: 1648373).
The BRD4 gene is associated with autosomal dominant Cornelia de Lange and Cornelia de Lange-like syndrome (PMID: 29379197, 11997514).
The BRWD3 gene is associated with X-linked intellectual disability (MedGen UID: 410164).
The BSCL2 gene is associated with a spectrum of autosomal dominant neurological conditions, including Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 23142943), also known as distal hereditary motor neuropathy type 5 (HMN5) (MedGen UID: 318838), and spastic paraplegia 17 (SPG17), also known as Silver syndrome (MedGen UID: 419034). It is also associated with a spectrum of autosomal recessive conditions including congenital generalized lipodystrophy, type 2 (CGL2) (MedGen UID: 318593) and progressive encephalopathy with or without lipodystrophy (PELD) (MedGen UID: 863137).
The BSND gene is associated with autosomal recessive Bartter syndrome type 4a (BARTS4A) (MedGen UID: 355430) and non-syndromic deafness (PMID: 19646679, 24949729).
The BTD gene is associated with autosomal recessive biotinidase deficiency (MedGen UID: 66323).
The BTRC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split hand/foot malformation (PMID: 27600068).
The BUB1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mosaic variegated aneuploidy syndrome (PMID: 35044816) and autosomal dominant predisposition to colorectal cancer (PMID: 28944238, 29448935, 33193653).
The BUB1B gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 338026). Additionally, the BUB1B gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (PMID: 32585810).
The LRMDA gene (formerly known as C10orf11) is associated with autosomal recessive oculocutaneous albinism, type 7 (MedGen UID: 815116).
The CFAP300 gene (also known as C11orf70) is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648465).
The C12orf57 gene is associated with autosomal recessive Temtamy syndrome (MedGen UID: 347474).
The C12ORF65 gene is associated with autosomal recessive hereditary spastic paraplegia 55 (SPG55) (MedGen UID: 761342) and autosomal recessive combined oxidative phosphorylation deficiency 7 (COXPD7) (MedGen UID: 462151).
The C19orf12 gene is associated with autosomal dominant and recessive mitochondrial membrane protein-associated neurodegeneration (MPAN) (MedGen UID: 482001). Additionally, the C19orf12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).
The C1QTNF5 gene is associated with autosomal dominant late-onset retinal degeneration (LORD) (MedGen UID: 344198).
The C1S gene is associated with autosomal recessive C1s deficiency (MedGen UID: 462428) and autosomal dominant periodontal Ehlers-Danlos syndrome (pEDS) (MedGen UID: 934648).
The C2CD3 gene is associated with autosomal recessive oral-facial-digital syndrome type 14 (OFD14) (MedGen UID: 799885) and Joubert syndrome (PMID: 26477546, 2692869).
The C8orf37 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 482675) and retinitis pigmentosa (RP) (MedGen UID: 20551). Additionally, the C8orf37 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet Biedl syndrome (BBS) (PMID: 27008867).
The CA2 gene is associated with autosomal recessive carbonic anhydrase 2 (CA2) deficiency (MedGen UID: 91042).
The CA4 gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 322153; PMID: 15090652).
The CABP2 gene is associated with autosomal recessive deafness (MedGen UID: 854875).
The CABP4 gene is associated with autosomal recessive congenital non-progressive cone-rod synaptic disorder (CRSD) (MedGen UID: 874422).
The CACNA1A gene is associated with autosomal dominant developmental and epileptic encephalopathy (DEE), also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934683), episodic ataxia type 2 (EA2) (MedGen UID: 314039), and familial hemiplegic migraine type 1 (FHM1) (MedGen UID: 331388). Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458), which is caused by triplet repeat expansion. Triplet repeat expansions are not evaluated by this assay.
The CACNA1B gene is associated with autosomal recessive neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (MedGen UID: 943635).
The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8, with or without neurodevelopmental features (MedGen UID: 331395). Additionally, the CACNA1C gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome and short QT syndrome (SQTS) (PMID: 17224476).
The CACNA1D gene is associated with autosomal recessive sinoatrial node dysfunction and deafness (MedGen UID: 766932) and autosomal dominant primary aldosteronism with seizures and neurologic abnormalities (PASNA) (MedGen UID: 815939). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25620733, 22495309, 22542183).
The CACNA1E gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 1648381) and an autosomal dominant neurodevelopmental condition without seizures (PMID: 34702355).
The CACNA1F gene is associated with X-linked recessive Aland Island eye disease (AIED) (MedGen UID: 120643), cone-rod dystrophy (CRD) (MedGen UID: 336932) and congenital stationary night blindness, type 2A (CSNB2A) (MedGen UID: 376299).
The CACNA1G gene is associated with autosomal dominant infantile- and adult-onset spinocerebellar ataxia 42 (MedGen UID: 1648308, 902592). Additionally, the CACNA1G gene has preliminary evidence supporting a correlation with autosomal dominant juvenile myoclonic epilepsy (PMID: 17397049).
The CACNA1H gene is associated with autosomal dominant familial hyperaldosteronism (MedGen UID: 934723). Additionally, the CACNA1H gene has preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy syndromes (PMID: 12891677, 15048902, 17696120).
The CACNA2D2 gene is associated with autosomal recessive cerebellar atrophy with seizures and variable developmental delay (CASVDD) (MedGen UID: 944061).
The CACNA2D4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinal cone dystrophy (RCD) (PMID: 28726569, 26560832, 17033974).
The CACNB4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (MedGen UID: 413424) and episodic ataxia, type 5 (EA5) (MedGen UID: 356142).
The CAD gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 904125). Additionally, the CAD gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder with abnormal glycosylation, and congenital heart disease with neurodevelopmental disability (PMID: 25678555, 28191890, 26785492).
The CAMK2B gene is associated with autosomal dominant intellectual disability (MedGen UID: 1614787).
The CAMTA1 gene is associated with autosomal dominant non-progressive ataxia with intellectual disability (CANPMR) (MedGen UID: 766575).
The CANT1 gene is associated with autosomal recessive Desbuquois dysplasia (MedGen UID: 98479).
The CAPN1 gene is associated with autosomal recessive hereditary spastic paraplegia 76 (SPG76) (MedGen UID: 934767).
The CAPN5 gene is associated with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) (MedGen UID: 349808). Additionally, the CAPN5 gene has preliminary evidence supporting a correlation with autosomal dominant high myopia (PMID: 26747767, 29453956).
The CARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 27 (COXPD27) (MedGen UID: 322999).
The CASK gene is associated with a spectrum of X-linked conditions including intellectual disability (ID) (MedGen UID: 411367), FG syndrome 4 (FGS4) (MedGen UID: 336965 ), and intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (MedGen UID: 437070).
The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, the CASR gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).
The CAST gene is associated with autosomal recessive PLACK (Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads) syndrome (MedGen UID: 902464). Additionally, the CAST gene has preliminary evidence supporting a correlation with keratoconus (PMID: 29924831).
The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153), which is one of the RASopathies (MedGen UID: 1792298). Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631).
The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).
The CBX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 46,XY sex reversal (PMID: 19361780).
The CC2D2A gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322) and autosomal recessive retinal dystrophy (PMID: 30267408).
The CCDC103 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 762261).
The CCDC114 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 761920).
The CCDC141 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 87440).
The CCDC151 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 807540).
The CCDC39 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 462486).
The CCDC40 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462487).
The CCDC50 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness 44 (MedGen UID: 334525).
The CCDC65 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816031).
The CCDC8 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 481776).
The CCDC88A gene is associated with autosomal recessive progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (PEHO-like syndrome) (MedGen UID: 337956). Additionally, the CCDC88A gene has preliminary evidence supporting a correlation with autistic spectrum/developmental delay (PMID: 28191890, 28135719).
The CCDC88C gene is associated with autosomal recessive congenital hydrocephalus (HYC1) (MedGen UID: 854455). Additionally, the CCDC88C gene has preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia (SCA40) (MedGen UID: 1385103).
The CCM2 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 400438).
The CCND2 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863179) and an autosomal dominant condition involving microcephaly, short stature, and developmental delay (PMID: 34087052).
The CCNO gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 862971).
The CCNQ gene (formerly known as FAM58A) is associated with X-linked dominant STAR syndrome (MedGen UID: 394424).
The CCT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (PMID: 27645772, 29450543).
The CCT5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary sensory neuropathy with spastic paraplegia (MedGen UID: 342492).
The CD151 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephropathy with pretibial epidermolysis bullosa and deafness (MedGen UID: 323004).
The CD164 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 924418, PMID: 26197441).
The CD2AP gene is associated with autosomal dominant and recessive focal segmental glomerulosclerosis (FSGS) (MedGen UID: 335850).
The CD40 gene is associated with autosomal recessive hyper IgM syndrome (HIGM) (MedGen UID: 328419).
The CD40LG gene is associated with X-linked hyper-IgM syndrome (HIGM) (MedGen UID: 96019).
The CD96 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant C syndrome (MedGen UID: 167105).
The CDC14A gene is associated with autosomal recessive deafness (MedGen UID: 373370).
The CDC42 gene is associated with autosomal dominant Takenouchi-Kosaki syndrome (MedGen UID: 906646).
The CDC45 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 934705).
The CDC6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462476).
The CDC73 gene is associated with autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma, and familial isolated hyperparathyroidism (FIHP) (MedGen UID: 310065, 146361, 333554), collectively referred to as CDC73-related conditions. Additionally, the CDC73 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to malignant uterine tumors (PMID: 23293331, 12434154, 23029104).
The CDH23 gene is associated with autosomal recessive Usher syndrome type I (USH1) (MedGen UID: 322051) and autosomal recessive deafness (MedGen UID: 330455).
The CDH3 gene is associated with autosomal recessive congenital hypotrichosis with juvenile macular dystrophy (HJMD) (MedGen UID: 316921) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) (MedGen UID: 341679). Additionally, the CDH3 gene has preliminary evidence supporting a correlation with autosomal recessive isolated retinitis pigmentosa (PMID: 26306921).
The CDHR1 gene is associated with autosomal recessive cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) (MedGen UID: 462262).
The CDK13 gene is associated with autosomal dominant congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MedGen UID: 1385307).
The CDK4 gene is associated with autosomal dominant predisposition to cutaneous melanoma (MedGen UID: 268851). Additionally, the CDK4 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pancreatic cancer (PMID: 23384855).
The CDK5 gene is associated with autosomal recessive lissencephaly with cerebellar hypoplasia (MedGen UID: 895680).
The CDK5RAP2 gene is associated with autosomal recessive primary microcephaly (MCPH) (MedGen UID: 347619) and Seckel syndrome (PMID: 26436113).
The CDKL5 gene is associated with X-linked dominant early infantile epileptic encephalopathy/West syndrome (MedGen UID: 326463), atypical Rett syndrome (PMID: 16015284, 15689447), and Angelman-like syndrome (MedGen UID: 472054).
The CDKN1B gene is associated with autosomal dominant multiple endocrine neoplasia type 4 (MEN4) (MedGen UID: 373469).
The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (BWS) (MedGen UID: 2562), IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364), and Silver-Russell syndrome (PMID: 24065356, 31976094).
The CDKN2A gene is associated with autosomal dominant melanoma-pancreatic cancer syndrome (MedGen UID: 325450) and melanoma-neural system tumor (NST) syndrome (MedGen UID: 331890). The CDKN2A gene encodes two main proteins, p16INK4a and p14ARF.
The CDON gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 481845) and autosomal recessive ocular coloboma (PMID: 32729136).
The CDSN gene is associated with autosomal recessive peeling skin syndrome (MedGen UID: 336530) and autosomal dominant hypotrichosis simplex (MedGen UID: 374435).
The CDT1 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462470).
The CEACAM16 gene is associated with autosomal dominant deafness (MedGen UID: 482927) and autosomal recessive deafness (MedGen UID: 941379).
The CEBPA gene is associated with autosomal dominant predisposition to familial acute myeloid leukemia (AML) (MedGen UID: 9730).
The CELSR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive syndromic autism spectrum disorder (PMID: 28720891), autosomal recessive oral-facial-digital syndrome (PMID: 27894351), autosomal recessive Joubert syndrome (PMID: 28052552) and autosomal dominant schizophrenia (PMID: 23911319).
The CENPF gene is associated with autosomal recessive Stromme syndrome (MedGen UID: 340938).
The CENPJ gene is associated with autosomal recessive primary microcephaly 6 (MCPH6) (MedGen UID: 330770) and Seckel syndrome 4 (SCKL4) (MedGen UID: 442100).
The CEP104 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 852392).
The CEP120 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 1618082) and short-rib thoracic dysplasia with or without polydactyly (SRTD) (MedGen UID: 898712).
The CEP135 gene is associated with autosomal recessive primary microcephaly and Seckel syndrome spectrum disorders (MedGen UID: 766328).
The CEP152 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 462537).
The CEP164 gene is associated with a spectrum of autosomal recessive conditions including nephronophthisis (MedGen UID: 762112) and Senior Loken syndrome (PMID: 22863007).
The CEP19 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 816654).
The CEP250 gene is associated with autosomal recessive Usher syndrome (MedGen UID: 1675017). Additionally, the CEP250 gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic retinal dystrophy (PMID: 30998843) and with autosomal recessive azoospermia (PMID: 32719396).
The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545), and Bardet-Biedl syndrome (MedGen UID: 393033).
The CEP41 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482527).
The CEP55 gene is associated with a form of autosomal recessive Joubert syndrome that is also known as MARCH syndrome (MedGen UID: 343465).
The CEP57 gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 481473). Additionally, the CEP57 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (PMID: 31263571).
The CEP63 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 766496). Additionally, the CEP63 gene has preliminary evidence supporting a correlation with developmental dyslexia (PMID: 26400686).
The CEP78 gene is associated with autosomal recessive cone-rod dystrophy (CRD) with sensorineural deafness (MedGen UID: 934624).
The CEP83 gene is associated with autosomal recessive nephronophthisis (NPHP) (MedGen UID: 786419).
The CEP89 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 24038936) and polycystic kidney disease (PMID: 29527510).
The CEP97 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with primordial dwarfism (PMID: 28600779).
The CERKL gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 333996) and cone-rod dystrophy (CRD) (PMID: 23591405, 20554613, 26103963).
The CERS1 is associated with autosomal recessive progressive myoclonic epilepsy 8 (EPM8) (MedGen UID: 864056)
The CERS3 gene is associated with autosomal recessive nonsyndromic congenital ichthyosis (MedGen UID: 767263)
The CFAP298 gene (formerly known as C21orf59) is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816014).
The CFAP410 gene (formerly known as C21orf2) is associated with autosomal recessive retinal dystrophy (MedGen UID: 1381980) and axial spondylometaphyseal dysplasia (SMDAX) (MedGen UID: 356065).
The CFAP52 gene (formerly known as WDR16) is associated with autosomal recessive heterotaxy (MedGen UID: 1794282).
The CFAP53 gene (formerly known as CCDC11) is associated with autosomal recessive heterotaxy (MedGen UID: 766590).
The CFH gene is associated with autosomal dominant atypical hemolytic uremic syndrome (MedGen UID: 412743) and autosomal recessive complement factor H deficiency (MedGen UID: 96024). Additionally, the CFH gene has preliminary evidence supporting a correlation with basal laminar drusen (MedGen UID: 152676) and age-related macular degeneration (MedGen UID: 339914).
The CFHR5 gene is associated with autosomal dominant C3 glomerulopathy (C3G) due to CFHR5 deficiency (MedGen UID: 766634).
The CFI gene is associated with autosomal recessive complement factor I deficiency (PMID: 31231365) and autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414542). Additionally, the CFI gene has preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration susceptibility (MedGen UID: 615439).
The CFTR gene is associated with autosomal recessive cystic fibrosis (CF) (MedGen UID: 41393) and congenital bilateral absence of the vas deferens (CAVD) (MedGen UID: 98021). Additionally, CFTR is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).
The CHD2 gene is associated with autosomal dominant childhood-onset epileptic encephalopathy (MedGen UID: 815608).
The CHD4 gene is associated with autosomal dominant Sifrim-Hitz-Weiss syndrome (MedGen UID: 934655) and childhood idiopathic epilepsy with sinus arrhythmia (PMID: 34109749).
The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).
The CHD8 gene is associated with an autosomal dominant syndrome involving overgrowth, intellectual disability, and susceptibility to autism (MedGen UID: 767287).
The CHM gene is associated with X-linked choroideremia (MedGen UID: 944).
The CHMP1A gene is associated with autosomal recessive pontocerebellar hypoplasia type 8 (PCH8) (MedGen UID: 767123).
The CHMP2B gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7), previously known as amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010).
The CHMP4B gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343089).
The CHRDL1 gene is associated with X-linked recessive megalocornea (MedGen UID: 138008).
The CHRM3 gene is associated with autosomal recessive prune belly syndrome (MedGen UID: 18718).
The CHRNA1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 903294, 909200). Additionally, the CHRNA1 gene has preliminary evidence supporting a correlation with autosomal recessive lethal multiple pterygium syndrome (LMPS) (MedGen UID: 381473).
The CHRNA2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 332082).
The CHRNA3 gene is associated with autosomal recessive congenital anomalies of the kidney and urinary tract (CAKUT) with autonomic dysfunction (PMID: 31708116).
The CHRNA4 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 324932).
The CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263).
The CHST14 gene is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (MedGen UID 356497).
The CHST3 gene is associated with autosomal recessive spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) (MedGen UID: 374477).
The CHST6 gene is associated with autosomal recessive macular corneal dystrophy (MedGen UID: 351514).
The CHSY1 gene is associated with autosomal recessive temtamy preaxial brachydactyly syndrome (TPBS) (MedGen UID: 381425).
The CHUK gene is associated with autosomal recessive cocoon syndrome, also known as Bartsocas-Papas syndrome 2 (MedGen UID: 462241, 1778443).
The CIB2 gene is associated with autosomal recessive non-syndromic deafness (MedGen UID: 332149). Additionally, the CIB2 gene has preliminary evidence supporting a correlation with autosomal recessive Usher syndrome, type I (USH1) (MedGen UID: 766858).
The CISD2 gene is associated with autosomal recessive Wolfram syndrome 2 (WFS2) (MedGen UID: 347604).
The CIT gene is associated with autosomal recessive primary microcephaly (MedGen UID: 934690).
The CIZ1 gene is associated with autosomal dominant dystonia 23 (DYT23) (PMID: 22447717).
The CKAP2L gene is associated with autosomal recessive Filippi syndrome (MedGen UID: 163197).
The CLCC1 gene is associated with autosomal recessive retinitis pigmentosa (MedGen UID: 322781).
The CLCN2 gene is associated with autosomal recessive leukoencephalopathy with ataxia (MedGen UID: 1638681) and autosomal dominant hyperaldosteronism (MedGen UID: 340137).
The CLCN4 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 27550844) and X-linked intellectual disability (MedGen UID: 923000).
The CLCN5 gene is associated with X-linked Dent disease complex (MedGen UID: 336322).
The CLCN6 gene is associated with autosomal dominant CLCN6-related neurodevelopmental syndrome (PMID: 33217309). In addition, the CLCN6 gene has preliminary evidence supporting a correlation with autosomal dominant benign partial epilepsy (PMID: 25794116).
The CLCN7 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 370598), autosomal dominant osteopetrosis (MedGen UID: 465707), and autosomal dominant hypopigmentation, organomegaly, and delayed myelination and development (HOD) (MedGen UID: 1672512).
The CLCNKB gene is associated with autosomal recessive Bartter syndrome type 3 (BSIII) (MedGen UID: 335399) and Gitelman syndrome (PMID: 26920127, 24830959).
The CLDN1 gene is associated with autosomal recessive ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (MedGen UID: 334382).
The CLDN14 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 481290).
The CLDN16 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 120640).
The CLDN19 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 344503).
The CLIC5 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (MedGen UID: 863487).
The TPP1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (CLN2) (MedGen UID: 406281).
The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549) and non-syndromic retinitis pigmentosa (PMID: 28542676, 24154662).
The CLN5 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 5 (CLN5) (MedGen UID: 376792). Additionally, the CLN5 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 33507209).
The CLN6 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 6 (CLN6) (MedGen UID: 356494).
The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004).
The CLP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pontocerebellar hypoplasia (PMID: 28097321, 24766809).
The CLPP gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 814744).
The CLRN1 gene is associated with autosomal recessive Usher syndrome type III (USH3) (MedGen UID: 339336) and retinitis pigmentosa (RP) (MedGen UID: 481671).
The CLTC gene is associated with autosomal dominant intellectual disability (MedGen UID: 1638835). Additionally, the CLTC gene has preliminary evidence supporting a correlation with autosomal dominant atypical Rett syndrome (PMID: 28856709).
The CLUAP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 26820066) and an autosomal recessive multiple congenital malformation syndrome (PMID: 28679688).
The CNGA1 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462409).
The CNGA3 gene is associated with autosomal recessive achromatopsia (MedGen UID: 387867) and cone-rod dystrophy (PMID: 24903488).
The CNGB1 gene is associated with autosomal recessive retinitis pigmentosa (RP) with or without olfactory dysfunction (MedGen UID 462416).
The CNGB3 gene is associated with autosomal recessive achromatopsia (MedGen UID: 340413). Additionally, the CNGB3 gene has preliminary evidence supporting a correlation with autosomal recessive Stargardt macular degeneration (MedGen UID: 383691) and retinitis pigmentosa (PMID: 28157192).
The CNNM2 gene is associated with autosomal dominant and autosomal recessive hypomagnesemia with seizures and intellectual impairment (MedGen UID: 906582). Additionally, the CNNM2 gene has preliminary evidence supporting a correlation with autosomal dominant autism (PMID: 28191890).
The CNNM4 gene is associated with autosomal recessive Jalili syndrome (MedGen UID: 501210).
The CNOT1 gene is associated with autosomal dominant neurodevelopmental disorder (MedGen UID: 977319) and with autosomal dominant holoprosencephaly with or without pancreatic agenesis (MedGen UID: 1684550).
The CNOT3 gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 1684848).
The CNTN2 gene is associated with autosomal recessive myoclonic epilepsy (MedGen UID: 815704).
The CNTNAP1 gene is associated with autosomal recessive lethal congenital contracture syndrome 7 (LCCS7) (MedGen UID: 894160) and congenital hypomyelinating neuropathy 3 (CHN3) (MedGen UID: 1648417).
The CNTNAP2 gene is associated with autosomal recessive intellectual disability disorders: cortical dysplasia-focal epilepsy syndrome (CDFES) (MedGen UID: 355859) and Pitt-Hopkins-like syndrome (PMID: 19896112).
The COA7 gene is associated with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) (MedGen UID: 1673607).
The COASY gene is associated with autosomal recessive COASY protein-associated neurodegeneration (CoPAN) (MedGen UID: 816560) and pontocerebellar hypoplasia, type 12 (PMID: 30089828, 35499143).
The COCH gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 371327) and autosomal recessive nonsyndromic deafness (MedGen UID: 1648377).
COG1 is associated with autosomal recessive COG1-congenital disorder of glycosylation (CDG-IIg) (MedGen UID 409970).
COG5 is associated with autosomal recessive COG5-congenital disorder of glycosylation (CDG-IIi) (MedGen UID 462226).
The COG7 gene is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID: 419311).
The COL10A1 gene is associated with autosomal dominant and autosomal recessive metaphyseal chondrodysplasia, Schmid type (MCDS) (MedGen UID: 78550; PMID: 28830906, 36400164).
The COL11A1 gene is associated with autosomal dominant Stickler syndrome (MedGen UID: 347615), Marshall syndrome (MRSHS) (MedGen UID: 82694), which is considered to be a phenotypic variant of Stickler syndrome by some experts (PMID: 10486316, 17236192), and non-syndromic deafness (MedGen UID: 1676950). COL11A1 is also associated with autosomal recessive fibrochondrogenesis (MedGen UID: 82700) as well as autosomal recessive forms of Stickler and Marshall syndromes (PMID: 22499343, 23922384).
The COL11A2 gene is associated with a spectrum of related autosomal recessive conditions including nonsyndromic deafness (MedGen UID: 400602), otospondylomegaepiphyseal dysplasia (OSMED) (MedGen UID: 1617409), and fibrochondrogenesis (MedGen UID: 479768). COL11A2 is also associated with a spectrum of related autosomal dominant conditions including Stickler syndrome III (MedGen UID: 349293 and 120521), OSMED (also known as Weissenbacher-ZweymĆ¼ller syndrome; MedGen UID: 341234) and nonsyndromic deafness (MedGen UID: 400917).
The COL12A1 gene is associated with autosomal dominant Bethlem myopathy 2 (BTHLM2) (MedGen UID: 907426) and autosomal recessive Ullrich congenital muscular dystrophy 2 (UCMD2) (MedGen UID: 899150). The COL12A1 gene is also associated with autosomal dominant and recessive myopathic Ehlers-Danlos syndrome (PMID: 28306229). Additionally, the COL12A1 gene has preliminary evidence supporting a correlation with autosomal dominant hypermobile Ehlers-Danlos syndrome (PMID: 32629534, 31273343).
The COL17A1 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 82798), and autosomal dominant amelogenesis imperfecta (PMID: PMID 8669466, 17344927) and epithelial recurrent erosion dystrophy (ERED) (MedGen UID: 342263).
The COL18A1 gene is associated with autosomal recessive Knobloch syndrome (MedGen UID: 1642123).
The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome (MedGen UID: 1645042, 977637), and Caffey disease (PMID: 24389367). Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).
The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359) and autosomal recessive osteogenesis imperfecta (PMID: 29572562).
The COL27A1 gene is associated with autosomal recessive Steel syndrome (MedGen UID: 767508).
The COL2A1 gene is associated with a spectrum of autosomal dominant related conditions including achondrogenesis type II (MedGen UID: 66315), avascular necrosis of the femoral head (MedGen UID: 1639295), Legg-Calve-Perthes disease (MedGen UID: 6035), multiple forms of skeletal dysplasia (MedGen UID: 324580, 75559, 331974, 387979, 163223, 147134, 412530, 905084) and Stickler syndrome, type I (MedGen UID: 810955); and autosomal recessive spondyloepiphyseal dysplasia congenita (PMID: 25060605, 26358419, 26626311). Additionally, the COL2A1 gene has preliminary evidence supporting a correlation with other forms of autosomal dominant skeletal dysplasia (MedGen UID: 377049, 140925; PMID: 12205109).
The COL3A1 gene is associated with autosomal dominant vascular Ehlers-Danlos syndrome (EDS, type 4) (MedGen UID: 82790) and autosomal recessive polymicrogyria with or without vascular EDS (MedGen UID: 1675672).
The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with or without ocular anomalies (BSVD1) (MedGen UID: 1647320), which is sometimes referred to as porencephaly, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), tortuosity of retinal arteries (RATOR) (MedGen UID: 356748), and pontine microangiopathy and leukoencephalopathy (PADMAL) (MedGen UID: 1684781). Additionally, the COL4A1 gene has preliminary evidence supporting a correlation with autosomal recessive brain small vessel disease with ocular anomalies (PMID: 32042920, 33491999).
The COL4A2 gene is associated with autosomal dominant porencephaly 2, also known as brain small vessel disease 2 (BSVD2) (MedGen UID: 482600). Additionally, the COL4A2 gene has preliminary evidence supporting a correlation with autosomal recessive leukoencephalopathy (PMID: 33912663, 36603335).
The COL4A3 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, 1648326).
The COL4A4 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, PMID: 26809805).
The COL4A5 gene is associated with X-linked Alport syndrome (MedGen UID: 1648433).
The COL4A6 gene is associated with X-linked recessive non-syndromic deafness (MedGen UID: 813067). Additionally, the COL4A6 gene has preliminary evidence supporting a correlation with Alport syndrome-diffuse leiomyomatosis (PMID: 28275241).
The COL5A1 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660). Additionally, the COL5A1 gene has preliminary evidence supporting a correlation with autosomal dominant keratoconus (PMID: 22924831).
The COL5A2 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660). Additional, there is preliminary evidence supporting a correlation with congenital heart defects (PMID: 28991257).
The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Additionally, the COL6A3 gene is associated with autosomal recessive dystonia 27 (DYT27) (MedGen UID: 907580).
The COL7A1 gene is associated with autosomal dominant dystrophic epidermolysis bullosa (DDEB) (MedGen UID: 37179) and autosomal recessive dystrophic epidermolysis bullosa (RDEB) (MedGen UID: 36311).
The COL8A2 gene is associated with autosomal dominant corneal dystrophy (MedGen UID: 377757, 338172).
The COL9A1 gene is associated with autosomal recessive Stickler syndrome, type IV (MedGen UID: 481571). Additionally, the COL9A1 gene has preliminary evidence supporting a correlation with dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 436517).
The COL9A2 gene is associated with autosomal recessive Stickler syndrome (MedGen UID: 481972) and autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 333092). Additionally, the COL9A2 gene has preliminary evidence supporting a correlation with susceptibility to intervertebral disc disease (PMID: 10411504).
The COL9A3 gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 322091), autosomal dominant vitreoretinal degeneration (PMID: 33633367), and autosomal recessive Stickler syndrome (PMID: 24273071). Additionally, the COL9A3 gene has preliminary evidence supporting a correlation with intervertebral disc disorder (IDD) (MedGen UID: 57852), pseudoachondroplasia (PMID: 11968079, 21922596), and autosomal dominant deafness (PMID: 15917166).
The COLEC11 gene is associated with autosomal recessive 3MC syndrome (MedGen UID: 167115).
The COLGALT1 gene is associated with autosomal recessive cerebral small vessel disease (MedGen UID: 1677948).
The COMP gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 325376) and pseudoachondroplasia (PSACH) (MedGen UID: 98378). Additionally, the COMP gene has preliminary evidence supporting a correlation with autosomal recessive PSACH (PMID: 28685811).
The COPA gene is associated with autosomal dominant autoimmune interstitial lung, joint, and kidney disease (AILJK) (MedGen: 452265).
The COQ2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 764868).
The COQ4 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 833081).
The COQ6 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766263).
The COQ7 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 852232).
The COQ8A gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 436985).
The COQ8B gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 816295).
The COQ9 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766288).
The COX10 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 75662).
The COX14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex IV deficiency (PMID: 22243966).
The COX15 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 346817).
The COX20 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The COX6B1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The COX7B gene is associated with X-linked dominant linear skin defects with multiple congenital anomalies (LSDMCA) (MedGen UID: 763835).
The COX8A gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex IV deficiency (MedGen UID: 75662).
The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). Additionally, the CP gene has preliminary evidence supporting a correlation with autosomal dominant aceruloplasminemia (PMID: 10206163).
The CPA1 gene is associated with autosomal dominant hereditary pancreatitis (PMID: 28258133, 23955596).
The CPA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant familial temporal lobe epilepsy 5 (PMID: 21922598, 25875328, 26648591, 23105115) and autosomal recessive familial febrile seizures 11 (PMID: 21922598, 23105115).
The CPAMD8 gene is associated with autosomal recessive anterior segment dysgenesis (MedGen UID: 934589).
The CPLANE1 gene (formerly known as C5orf42) is associated with autosomal recessive Joubert syndrome (MedGen UID: 766178) and orofaciodigital syndrome, type VI (OFD6) (MedGen UID: 411200).
The CPLX1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 1646846).
The CPS1 gene is associated with autosomal recessive carbamoyl phosphate synthetase I (CPS1) deficiency (MedGen UID: 199727).
The CPT1C gene is associated with autosomal dominant spastic paraplegia 73 (SPG73) (MedGen UID: 905874).
The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). Additionally, the CPT2 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 19762733, 10873395).
The CRADD gene is associated with autosomal recessive “thin” lissencephaly (TLIS) and intellectual disability (MedGen UID: 482674).
The CRAT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive neurodegeneration with brain iron accumulation-8 (MedGen UID: 1645224) and carnitine acetyltransferase deficiency (PMID: 31448845).
The CRB1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA)(MedGen UID: 462552), retinitis pigmentosa (RP)(MedGen UID: 374019), cone-rod dystrophy (CRD)(PMID: 26957898, 23767994), macular dystrophy (PMID: 24811962, 29391521), and foveal retinoschisis (PMID: 27258436).
The CRB2 gene is associated with autosomal recessive focal segmental glomerulosclerosis (MedGen UID: 863992).
The CREB3L1 gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 864047). Additionally, the CREB3L1 gene has preliminary evidence supporting a correlation with autosomal dominant OI (PMID: 28817112).
The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes. The CREBBP gene is also associated with autosomal dominant Menke-Hennekam syndrome 1 (MedGen UID: 1675629).
The CRELD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrioventricular septal defects (PMID: 15857420, 21080147).
The CRIPT gene is associated with autosomal recessive short stature with microcephaly and distinctive facies (SSMCF) (MedGen UID: 862776).
The CRKL gene currently has no well-established disease association; however, this gene occurs within the region associated with 22q11.2 deletion and duplication syndromes (PMID: 28121514, 27629806, 30628148, 30614210) and there is preliminary evidence supporting a correlation with CAKUT (PMID: 28121514).
The CRLF1 gene is associated with autosomal recessive cold-induced sweating syndrome (MedGen UID: 338577).
The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).
The CRX gene is associated with a spectrum of autosomal dominant inherited retinal conditions including macular dystrophy (PMID: 35934205), Stargardt disease (PMID: 31626798, 30718709), cone-rod dystrophy (MedGen UID: 483485), and Leber congenital amaurosis (MedGen UID: 462542), as well as autosomal recessive Leber congenital amaurosis (PMID: 24265693, 30557390, 29568065).
The CRYAA gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 347693). Additionally, the CRYAA gene has preliminary evidence supporting a correlation with autosomal dominant anterior segment dysgenesis (PMID: 32791987).
The CRYAB gene is associated with autosomal dominant and recessive cataracts (MedGen UID: 814707). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735). Additionally, the CRYAB gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563).
The CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817). Additionally, the CRYBA1 gene has preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 26622071, 25148791).
The CRYBA4 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351240). Additionally, the CRYBA4 gene has preliminary evidence supporting a correlation with autosomal recessive cataracts (PMID: 28418495) and autosomal dominant microphthalmia (PMID: 16960806).
The CRYBB1 gene is associated with autosomal dominant congenital cataracts (PMID: 18432316) and autosomal recessive congenital cataracts (MedGen UID: 854781).
The CRYBB2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 321901).
The CRYBB3 gene is associated with autosomal dominant congenital cataracts (PMID: 23508780) and autosomal recessive congenital cataracts (MedGen UID: 341862).
The CRYGB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (MedGen UID: 815130).
The CRYGC gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343810).
The CRYGD gene is associated with autosomal dominant congenital cataracts (MedGen UID: 761925).
The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 811740).
The CRYM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (PMID: 12471561, 16740909).
The CSF1R gene is associated with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids (HDLS) (MedGen UID: 777989) and autosomal recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) (MedGen UID: 1678789).
The CSF2RA gene is associated with X-linked primary pulmonary alveolar proteinosis (PAP) (MedGen ID: 393858). Of note, CSF2RA is located in the pseudoautosomal region of the X chromosome; therefore PAP-related CSF2RA variants are inherited in an autosomal recessive fashion in both males and females (PMID: 20622029, 25425184).
The CSF2RB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pulmonary alveolar proteinosis (PAP) (MedGen UID: 482204).
The CSGALNACT1 gene is associated with an autosomal recessive skeletal dysplasia (PMID: 27599773, 31325655).
The CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (PMID: 24360808).
The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (EPM1) (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy. Most cases of EPM1 are due to a dodecamer repeat expansion, which is not analyzed by this test.
The CTBP1 gene is associated with autosomal dominant hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) (MedGen UID: 1647427).
The CTC1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC1), also known as Coats plus syndrome (MedGen UID: 1636142).
The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).
The CTNNA1 gene is associated with autosomal dominant CTNNA1-related diffuse gastric cancer (PMID: 34425242) and autosomal dominant butterfly-shaped pigmentary macular dystrophy (MedGen UID: 332348). Additionally, CTNNA1 gene has preliminary evidence supporting correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 33497368) and syndromic craniosynostosis (PMID: 31292255).
The CTNNB1 gene is associated with an autosomal dominant intellectual disability syndrome (MedGen UID: 767363) and familial exudative vitreoretinopathy (FEVR) (MedGen UID: 1626650). Additionally, the CTNNB1 gene has preliminary evidence supporting a correlation with autosomal dominant Rett-like syndrome (PMID: 28856709) and sclerosing bone dysplasia and adrenocortical neoplasia (PMID: 31970420).
The CTNS gene is associated with autosomal recessive cystinosis, including nephropathic, intermediate and ocular non-nephropathic types (MedGen UIDs: 1207, 347449, 75701).
The CTR9 gene is associated with autosomal dominant CTR9-related neurodevelopmental disorder (PMID: 35499524). Additionally, the CTR9 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 25099282, 29292210).
The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).
The CTSA gene is associated with autosomal recessive galactosialidosis (MedGen UID: 82779). Additionally, the CTSA gene has preliminary evidence supporting a correlation with autosomal dominant cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) (PMID: 27664989, 28702507, 28334938).
The CTSC gene is associated with autosomal recessive Papillon-Lefevre syndrome (MedGen UID: 45306), Haim-Munk syndrome (MedGen UID: 344539), and aggressive periodontitis (MedGen UID: 10661).
The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).
The CTSF gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 13 (CLN13), also known as Kufs disease (MedGen UID: 811566). Additionally, the CTSF gene has preliminary evidence supporting a correlation with frontotemporal dementia (PMID: 27668283).
The CTSK gene is associated with autosomal recessive pycnodysostosis (MedGen UID: 116061).
The CTU2 gene is associated with autosomal recessive DREAM-PL syndrome (PMID: 31301155).
The CUBN gene is associated with autosomal recessive megaloblastic anemia 1 (MGA1, also known as Imerslund-GrƤsbeck syndrome) (MedGen UID: 224934), focal segmental glomerulosclerosis (PMID: 34979989), and chronic benign proteinuria (MedGen UID: 1714078).
The CUL3 gene is associated with autosomal dominant pseudohypoaldosteronism type 2E (PHA2E) (MedGen UID:Ā 483336) and an autosomal dominant neurodevelopmental condition (PMID: 33130828).
The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).
The CUL7 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 336440).
The CWC27 gene is associated with autosomal recessive retinitis pigmentosa with or without skeletal anomalies (RPSKA) (MedGen UID: 381579).
The CXCR4 gene is associated with autosomal dominant WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome (MedGen UID: 96875).
The CYB5A gene is associated with autosomal recessive methemoglobinemia and ambiguous genitalia (MedGen UID: 925090).
The CYB5R3 gene is associated with autosomal recessive methemoglobinemia due to NADH-cytochrome b5 reductase deficiency (MedGen UID: 75661).
The CYFIP2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1634676).
The CYP11A1 gene is associated with autosomal recessive congenital adrenal insufficiency (MedGen UID: 462405).
The CYP11B1 gene is associated with autosomal recessive congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (MedGen UID: 82783) and autosomal dominant familial hyperaldosteronism type I (FH-I) (MedGen UID: 224694).
The CYP11B2 gene is associated with autosomal recessive aldosterone synthase deficiency (MedGen UID: 441858, 483046).
The CYP17A1 gene is associated with autosomal recessive congenital adrenal hyperplasia (CAH) (MedGen UID: 82782) and isolated 17, 20-lyase deficiency (MedGen UID: 1801589).
The CYP19A1 gene is associated with autosomal recessive aromatase deficiency (MedGen UID: 743307). Additionally, the CYP19A1 gene has preliminary evidence supporting a correlation with autosomal dominant aromatase excess syndrome (MedGen UID: 409989).
The CYP1B1 gene is associated with autosomal recessive primary congenital glaucoma 3A (GLC3A) (MedGen UID: 383912), and juvenile- and adult-onset primary open-angle glaucoma (POAG) (MedGen UID: 331409). Additionally, the CYP1B1 gene has preliminary evidence supporting a correlation with autosomal recessive Peters anomaly (PMID: 11403040, 24281366).
The CYP24A1 gene is associated with autosomal recessive infantile hypercalcemia (MedGen UID: 120608).
The CYP26B1 gene is associated with autosomal recessive radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) (MedGen UID: 482359).
The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).
The CYP27B1 gene is associated with autosomal recessive vitamin D-dependent rickets, type I (VDDR1A) (MedGen UID: 124344).
The CYP2R1 gene is associated with autosomal recessive vitamin D hydroxylation-deficient rickets type 1B (MedGen UID: 374020). Additionally, the CYP2R1 gene has preliminary evidence supporting a correlation with Vogt-Koyanagi-Harada disease (PMID: 27716192).
The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).
The CYP4F22 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen: 347628).
The CYP4V2 gene is associated with autosomal recessive Bietti crystalline dystrophy (BCD) (MedGen UID: 347895) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 400996)
The CYP51A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 25148791, 22935719).
The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521) and congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497).
The D2HGDH gene is associated with autosomal recessive D-2-hydroxyglutaric aciduria (MedGen UID: 463405).
The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).
The DARS gene is associated with autosomal recessive leukodystrophy: hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) (MedGen UID: 815338).
The DARS2 gene is associated with autosomal recessive leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (MedGen UID: 370845).
The DBH gene is associated with autosomal recessive dopamine beta-hydroxylase deficiency (MedGen UID: 90992).
The DBT gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).
The DCAF17 gene is associated with autosomal recessive Woodhouse-Sakati syndrome (WSS) (MedGen UID: 83337).
The DCDC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aniridia (PMID: 21364908, 21321669, 19793656).
The DCDC2 gene is associated with autosomal recessive nephronophthisis 19 (NPHP19) (MedGen UID: 863979) and neonatal sclerosing cholangitis (NSC) (MedGen: 1393230). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).
The DCHS1 gene is associated with autosomal dominant mitral valve prolapse (MedGen UID: 335856) and autosomal recessive Van Maldergem syndrome (MedGen UID: 1644627).
The DCN gene is associated with autosomal dominant congenital stromal corneal dystrophy (CSCD) (MedGen UID: 400601).
The DCX gene is associated with X-linked lissencephaly and subcortical band heterotopia (SBH) (MedGen UID: 1644310).
The DDB2 gene is associated with autosomal recessive xeroderma pigmentosum (MedGen UID: 341219).
The DDC gene is associated with autosomal recessive aromatic L-amino acid decarboxylase (AADC) deficiency (MedGen UID: 220945).
The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174). Additionally, the DDHD1 gene has preliminary evidence supporting a correlation with juvenile amyotrophic lateral sclerosis (JALS) (PMID: 27999540).
The DDHD2 gene is associated with autosomal recessive hereditary spastic paraplegia 54 (SPG54) (MedGen UID: 761341).
The DDOST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive DDOST-congenital disorder of glycosylation (CDG-Ir) (PMID: 22305527).
The DDR2 gene is associated with autosomal recessive spondylometaepiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) (MedGen UID: 338595).
The DDRGK1 gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia (MedGen UID: 400703).
The DDX3X gene is associated with an X-linked intellectual disability syndrome (MedGen UID: 897961).
The DDX59 gene is associated with autosomal recessive oral-facial-digital syndrome (OFD) (MedGen UID: 358131).
The DEAF1 gene is associated with autosomal dominant and autosomal recessive neurodevelopmental disorders (MedGen UID: 862851, 934650).
The DEGS1 gene is associated with autosomal recessive hypomyelinating leukodystrophy (HLD) (MedGen UID: 941380).
The DENND5A gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 934602).
The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 1641798) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432274). It is also associated with autosomal recessive early-onset epilepsy with macrocephaly and bilateral polymicrogyria (PMID: 36067010).
The GSDME gene (also known as DFNA5) is associated with autosomal dominant deafness (MedGen UID: 331398).
The PJVK gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 387899).
The DGKE gene is associated with autosomal recessive atypical hemolytic uremic syndrome 7 (AHUS7) and nephrotic syndrome, type 7 (NPHS7) (MedGen UID: 767244).
The DGKZ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive atypical cerebral palsy (PMID: 30542205).
The DGUOK gene is associated with a spectrum of autosomal recessive mitochondrial disorders including mitochondrial DNA depletion syndrome 3 (MTDPS3) (MedGen UID: 462863) and progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (PEOB4) (MedGen UID: 934700).
The DHCR24 gene is associated with autosomal recessive desmosterolosis (MedGen UID: 400801).
The DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).
The DHDDS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462577) and autosomal dominant developmental and epileptic encephalopathy syndrome (MedGen UID: 1641343). In addition, there is preliminary evidence supporting a correlation with DHDDS-congenital disorder of glycosylation (CDG-Ibb) (PMID: 27343064).
The DHFR gene is associated with autosomal recessive megaloblastic anemia due to dihydrofolate reductase deficiency (MedGen UID: 462555).
The DHH gene is associated with autosomal recessive gonadal dysgenesis (MedGen UID: 383876).
The DHODH gene is associated with autosomal recessive Miller syndrome (MedGen UID: 120522).
The DHTKD1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) (MedGen UID: 767280) and amyotrophic lateral sclerosis (ALS) (MedGen UID: 274). The DHTKD1 gene is also associated with autosomal recessive 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) (MedGen UID: 395350), a biochemical phenotype which may or may not result in a clinical condition. Additionally, the DHTKD1 gene has preliminary evidence supporting a correlation with autosomal recessive steroid resistant nephrotic syndrome (PMID: 29127259).
The DHX32 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive inherited retinal disease (PMID: 29320387).
The DHX37 gene is associated with an autosomal recessive neurodevelopmental disorder (MedGen UID: 1684772) and with autosomal dominant disorders of sex development (MedGen UID: 78602). Additionally, the DHX37 gene has preliminary evidence supporting a correlation with an autosomal dominant neurodevelopmental disorder (PMID: 31256877).
The DHX38 gene is associated with autosomal recessive early-onset retinitis pigmentosa with or without macular coloboma (MedGen UID: 1648352).
The DIABLO gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (PMID: 21722859; MedGen UID: 481578).
The DIAPH1 gene is associated with autosomal dominant deafness with or without thrombocytopenia (DFNA1) (PMID: 26912466, 28815995) and autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 894797).
The DIAPH3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant auditory neuropathy (MedGen UID: 322984) and a spectrum of autosomal dominant neurodevelopmental conditions (PMID: 20308993, 31191202).
The DICER1 gene is associated with autosomal dominant DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 449020).
The DIP2C gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 28263302, 22542183, 25363768) and autosomal recessive skeletal dysplasia (PMID: 29620724).
The DIS3L2 gene is associated with autosomal recessive Perlman syndrome (MedGen UID: 162909). Additionally, the DIS3L2 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 25670083, 35230882).
The DISP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive holoprosencephaly (HPE) (PMID: 28640243, 19184110, 26748417).
The DKC1 gene is associated with X-linked dyskeratosis congenita spectrum disorders (DC) (MedGen UID: 216941).
The DLAT gene is associated with autosomal recessive pyruvate dehydrogenase E2 (PDHE2) deficiency (MedGen UID: 343386).
The DLC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (PMID: 29773874).
The DLD gene is associated with autosomal recessive dihydrolipoamide dehydrogenase (DLD) deficiency (MedGen UID: 449386).
The DLL1 gene is associated with an autosomal dominant neurodevelopmental disorder with brain malformations (MedGen UID: 946090). Additionally, the DLL1 gene has preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 31275352, 26801181).
The DLL3 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 834049).
The DLL4 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 908556).
The DLST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to paraganglioma and pheochromocytoma (PMID: 30929736) and congenital diaphragmatic hernia (PMID: 26034137).
The DLX3 gene is associated with autosomal dominant trichodentoosseous syndrome (TDO) (MedGen UID: 78555). Additionally, the DLX3 gene has preliminary evidence supporting a correlation with autosomal dominant amelogenesis imperfecta (PMID: 15666299, 9874789).
The DLX5 gene is associated with autosomal dominant split-hand/foot malformation (MedGen UID: 419314).
The DLX6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split-hand/foot malformation type 1 (PMID: 28611547).
The DMD gene is associated with X-linked Duchenne Muscular Dystrophy (DMD) (MedGen UID: 3925), Becker Muscular Dystrophy (BMD) (MedGen UID: 182959) and dilated cardiomyopathy 3B (CMD3B) (MedGen UID: 777148).
The DMP1 gene is associated with autosomal recessive hypophosphatemic rickets (ARHR) (MedGen UID: 137975).
The DMRT1 gene is associated with autosomal dominant 46,XY gonadal dysgenesis (PMID: 22573722, 20685758, 27711951).
The DMRT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 29681102)
The DMXL2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 945899). Additionally, the DMXL2 gene has preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 1621646), as well as a spectrum of autosomal dominant and recessive neurodevelopmental disorders (PMID: 25248098, 28191890, 28856709).
The DNA2 gene is associated with autosomal dominant progressive external ophthalmoplegia (PEO) with mitochondrial deletions (MedGen UID: 767513) and autosomal recessive Seckel syndrome (SCKL) (MedGen UID: 786079).
The DNAAF1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 413399).
The DNAAF2 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 382707).
The DNAAF3 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 338258).
The DNAAF4 gene (formerly known as DYX1C1) is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815971).
The DNAAF5 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 762331).
The DNAH1 gene is associated with autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (MedGen UID: 1617309) and autosomal recessive primary ciliary dyskinesia (MedGen UID: 1615746).
The DNAH11 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 394834).
The DNAH5 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 325210).
The DNAH8 gene is associated with autosomal recessive primary ciliary dyskinesia (PMID: 24307375) and nonsyndromic multiple morphological abnormalities of the flagella (MedGen UID: 976114).
The DNAH9 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648365).
The DNAI1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD), or Kartagener syndrome (MedGen UID: 9615).
The DNAI2 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 390990).
The DNAJB11 gene is associated with autosomal dominant polycystic kidney disease with or without polycystic liver disease (MedGen UID: 1648469).
THE DNAJB13 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 934689).
The DNAJC12 gene is associated with autosomal recessive hyperphenylalaninemia (MedGen UID: 910649).
The DNAJC17 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa with hypogammaglobulinaemia (PMID: 26355662).
The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4) (MedGen UID: 320287).
The DNAL1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462810).
The DNASE1L3 gene is associated with autosomal recessive systemic lupus erythematosus (MedGen UID: 6146).
The DNM1 gene is associated with autosomal dominant and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 894942, PMID: 34172529).
The DNM1L gene is associated with autosomal dominant and autosomal recessive encephalopathy due to defective mitochondrial and peroxisomal fission 1 and autosomal dominant optic atrophy 5 (MedGen UIDs: 482290; 377837).
The DNM2 gene is associated with autosomal dominant centronuclear myopathy (CNM1) (MedGen UID: 322437) and dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).
The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515) and cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 813625).
The DNMT3A gene is associated with autosomal dominant Tatton-Brown-Rahman syndrome (MedGen UID: 786449) and autosomal dominant Heyn-Sproul-Jackson syndrome (MedGen UID: 1684743).
The DOCK6 gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGen UID: 481812).
The DOCK7 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862929).
The DOLK gene is associated with the autosomal recessive congenital disorder of glycosylation DOLK-CDG (CDG-Im) (MedGen UID 332072).
The DONSON gene is associated with autosomal recessive microcephaly-micromelia syndrome (MedGen UID: 381553).
The DPAGT1 gene is associated with autosomal recessive congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559) and DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 419694).
The DPF2 gene is associated with autosomal dominant Coffin-Siris syndrome (CSS) (MedGen UID: 1648281).
The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).
The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).
The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).
The DPYS gene is associated with autosomal recessive dihydropyrimidinase (DPYS) deficiency (MedGen UID: 83353).
The DRAM2 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 850969).
The DRC1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815417).
The DSCAML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25363768, 28191890) and congenital heart defects with or without neurodevelopmental disorder (PMID: 28991257). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive retinal disease (PMID: 29320387) and motor neuron disease, scoliosis, and chest deformity (PMID: 26539891).
The DSE gene is associated with autosomal recessive Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2, MedGen UID: 356497).
The DSG1 gene is associated with autosomal dominant keratosis palmoplantaris striata (MedGen UID: 419717) and autosomal recessive erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (MedGen UID: 816049).
The DSG4 gene is associated with autosomal recessive hypotrichosis 6 (LAH) (MedGen UID: 335812).
The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and autosomal dominant dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 862830). The DSP gene is also associated with autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124) and autosomal recessive lethal acantholytic epidermolysis bullosa (LAEB) (MedGen UID:Ā 400622).
The DSPP gene is associated with a spectrum of autosomal dominant dentin defects (MedGen UID: 424922, 96026, 97995). Additionally, the DSPP gene has preliminary evidence supporting a correlation with non-syndromic deafness (PMID: 29741433, 30682115).
The DST gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 6 (HSAN6) (MedGen UID: 761278) and epidermolysis bullosa simplex 2 (EBSB2) (MedGen UID: 815800). Detection of variants in the neuronal isoform dystonin-a2 transcript (NM_001144769) is not guaranteed with the current assay (PMID: 32042917).
The DSTYK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 23 (SPG23) (MedGen UID: 167094) and autosomal dominant congenital anomalies of kidney and urinary tract (MedGen UID: 322763).
The DTHD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with glaucoma and Leber congenital amaurosis (PMID: 24911043, 23105016).
The DTNBP1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 481386).
The DUSP6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815311).
The DVL1 gene is associated with autosomal dominant Robinow syndrome (ADRS) (MedGen UID: 897039).
The DVL3 gene is associated with autosomal dominant Robinow syndrome (ADRS) (MedGen UID: 907878).
The DYM gene is associated with autosomal recessive Dyggve-Melchior-Clausen syndrome (DMC) (MedGen UID: 120527) and Smith-McCort dysplasia (MedGen UID: 854757).
The DYNC1H1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) (MedGen UID: 481850), lower extremity predominant spinal muscular atrophy 1 (SMALED1) (MedGen UID: 322470), and complex cortical dysplasia with brain malformations (MedGen UID: 482832).
The DYNC1I1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split-hand/foot malformation (PMID: 25332435, 24459211, 25231166).
The DYNC2H1 gene is associated with autosomal recessive short-rib polydactyly syndrome, also known as asphyxiating thoracic dystrophy (MedGen UID: 462535), and nonsyndromic retinitis pigmentosa (PMID: 32753734).
The DYNC2LI1 gene is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 934691).
The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).
The DZIP1L gene is associated with autosomal recessive polycystic kidney disease (PKD) (MedGen UID: 1624679).
The EARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 12 (COXPD12) (MedGen UID: 766993).
The EBP gene is associated with X-linked dominant chondrodysplasia punctata type II (CDPX2) (MedGen UID: 79381), and X-linked recessive male EBP disorder with neurological defects (MEND) (MedGen UID: 905986).
The ECHS1 gene is associated with autosomal recessive mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (MedGen UID 833076).
The EDA gene is associated with X-linked hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 57890) and tooth agenesis (PMID: 28981473).
The EDAR gene is associated with autosomal recessive and dominant hypohidrotic ectodermal dysplasia (HED) (MedGen UID: 96067, 314095) and autosomal dominant tooth agenesis (PMID: 28981473).
The EDARADD gene is associated with autosomal dominant and autosomal recessive hypohidrotic ectodermal dysplasia (MedGen UID: 314095, 96067). Additionally, the EDARADD gene has preliminary evidence supporting a correlation with tooth agenesis (PMID: 23991204).
The EDN1 gene is associated with autosomal recessive auriculocondylar syndrome (MedGen UID: 816662). Additionally, the EDN1 gene has preliminary evidence supporting a correlation with autosomal dominant question mark ears (MedGen UID: 411238) and tetralogy of Fallot (PMID: 24459294).
The EDN3 gene is associated with autosomal recessive Waardenburg syndrome type 4B (WS4B) (MedGen UID: 412961). Additionally, the EDN3 gene has preliminary evidence supporting a correlation with autosomal dominant Hirschsprung disease susceptibility 4 (HSCR4) (MedGen UID: 462325; PMID: 20009762, 10231870) and Waardenburg syndrome (PMID: 11303518).
The EDNRA gene is associated with autosomal dominant mandibulofacial dysostosis with alopecia (MFDA) (MedGen UID: 898794).
The EDNRB gene is associated with autosomal recessive and autosomal dominant Waardenburg syndrome type 4A (WS4A) (MedGen UID: 341244). Additionally, the EDNRB gene has preliminary evidence supporting a correlation with autosomal dominant Hirschsprung disease susceptibility (MedGen UID: 374002).
The EED gene is associated with autosomal dominant Weaver-like overgrowth syndrome (PMID: 28229514, 25787343, 27193220, 29410511).
The EEF1A2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 897930). Additionally, the EEF1A2 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy with dilated cardiomyopathy (PMID: 28911200).
The EEF2 gene is associated with autosomal dominant spinocerebellar ataxia 26 (SCA26) (MedGen UID: 373077) and an autosomal dominant neurodevelopmental disorder (PMID: 33355653).
The EFEMP1 gene is associated with autosomal dominant Doyne honeycomb retinal dystrophy (DHRD) (MedGen UID: 321900) and primary open-angle glaucoma (PMID: 32476818, 34923728).
The EFEMP2 gene is associated with autosomal recessive cutis laxa type 1B (ARCL1B) (MedGen UID: 482428) and thoracic aortic aneurysms and dissections (TAAD) (PMID: 22440127).
The EFHC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant juvenile myoclonic epilepsy (JME) (MedGen UID: 342587) and juvenile absence epilepsy (JAE) (MedGen UID: 4989).
The EFNA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant craniosynostosis (PMID: 16540516, 29168297, 29215649).
The EFNB1 gene is associated with X-linked craniofrontonasal syndrome (CFNS) (MedGen UID: 65095). EFNB1-related craniofrontonasal syndrome appears to affect heterozygous females and mosaic males while carrier males may appear unaffected or have only hypertelorism (PMID: 16685650).
The EFTUD2 gene is associated with autosomal dominant mandibulofacial dysostosis-microcephaly syndrome (MFDGA) (MedGen UID: 355264).
The EGF gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive renal hypomagnesmia (MedGen UID: 388692) and autosomal dominant isolated hypogonadotropic hypogonadism (PMID: 30098700).
The EGFR gene is associated with autosomal dominant predisposition to lung cancer (MedGen UID: 472093) and autosomal recessive neonatal inflammatory skin and bowel disease (MedGen UID: 863567).
The EGLN1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 377868). Additionally, the EGLN1 gene has preliminary evidene supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (PMID: 25263965, 19092153).
The EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).
The EIF2AK1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant neurodevelopmental disorder (PMID: 31785789, 32197074).
The EIF2AK2 gene is associated with an autosomal dominant leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (MedGen UID: 1719567).
The EIF2AK3 gene is associated with autosomal recessive Wolcott-Rallison syndrome (WRS) (MedGen UID: 140926).
The EIF2B1 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).
The EIF2B2 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).
The EIF2B3 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (LVWM) (MedGen UID: 347037).
The EIF2B4 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).
The EIF2B5 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).
The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).
The ELMOD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 24039609).
The ELN gene is associated with autosomal dominant supravalvular aortic stenosis (SVAS) (MedGen UID: 2001), autosomal dominant cutis laxa (MedGen UID: 120630), and is one of the genes commonly deleted in the microdeletion associated with Williams syndrome (WS) (MedGen UID: 59799).
The ELOVL1 gene is associated with autosomal dominant ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (IKSHD)(MedGen UID: 1682428).
The ELOVL4 gene is associated with autosomal dominant Stargardt-like macular degeneration (MedGen UID: 333146), autosomal dominant spinocerebellar ataxia 34 (also known as erythrokeratodermia with ataxia) (MedGen UID: 338703), and autosomal recessive ichthyosis, spastic quadriplegia, and intellectual disability (ISQID) (MedGen UID: 482486).
The ELOVL5 gene is associated with autosomal dominant spinocerebellar ataxia 38 (SCA38) (MedGen UID: 1379865).
The ELP1 gene (formerly known as IKBKAP) is associated with autosomal recessive familial dysautonomia (FD), also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678). Additionally, the ELP1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to medulloblastoma (PMID: 32296180).
The ELP4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aniridia and predisposition to neurodevelopmental anomalies ranging from autism spectrum to language impairment and epilepsy (PMID: 17679951, 24290376, 26010655).
The EMC1 gene is associated with autosomal dominant and autosomal recessive cerebellar atrophy, visual impairment, and psychomotor retardation (MedGen UID: 905041). Additionally, the EMC1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 23105016).
The EML1 gene is associated with autosomal recessive subcortical band heterotopia (MedGen UID: 924885).
The EMP2 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 862944).
The ENPP1 gene is associated with autosomal recessive hypophosphatemic rickets 2 (ARHR2) (MedGen UID: 442380), generalized arterial calcification of infancy type 1 (GACI1) (MedGen UID: 395331), and autosomal dominant Cole disease (COLED) (MedGen UID: 816111). Additionally, the ENPP1 gene has preliminary evidence supporting a correlation with autosomal recessive Cole disease (PMID: 28964717).
The ENTPD1 gene is associated with autosomal recessive spastic paraplegia 64 (SPG64) (MedGen UID: 816619).
The EOGT gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGenUID: 815422).
The EP300 gene is associated with autosomal dominant Rubinstein-Taybi syndrome (MedGen UID: 462291).
The EPAS1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 435867). Additionally, the EPAS1 gene has preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma syndrome (PMID: 30877234, 31185588).
The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).
The EPHA2 gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 396229).
The EPHA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atypical cerebral palsy (PMID: 30542205).
The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).
The EPRS gene is associated with autosomal recessive hypomyelinating leukodystrophy (MedGen UID: 1633653).
The EPS8 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 856149).
The EPS8L2 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 1627111).
The ERCC1 gene is associated with autosomal recessive Cockayne syndrome (PMID: 33315086, 23623389, 17273966). Additionally, the ERCC1 gene has preliminary evidence supporting a correlation with autosomal recessive xeroderma pigmentosum (MedGen UID: 468518).
The ERCC2 gene is associated with autosomal recessive photosensitive trichothiodystrophy (TTD) (MedGen UID: 355730) and xeroderma pigmentosum, group D (XPD) (MedGen UID: 75656). Additionally, the ERCC2 gene has preliminary evidence supporting a correlation with a combined phenotype including both xeroderma pigmentosum and trichothiodystrophy (XP-TTD) (PMID: 11709541) as well as xeroderma pigmentosum and Cockayne syndrome (XP-CS) (PMID: 7825573).
The ERCC3 gene is associated with autosomal recessive xeroderma pigmentosum (XP)(MedGen UID: 21943) and autosomal recessive Cockayne syndrome (MedGen UID: 40363). Additionally, the ERCC3 gene has preliminary evidence supporting a correlation with autosomal recessive trichothiodystrophy (MedGen UID: 363064).
The ERCC4 gene is associated with autosomal recessive Fanconi anemia, type Q (MedGen UID: 815318) and xeroderma pigmentosa, group F (XPF) (MedGen UID: 120612). Additionally, the ERCC4 gene has preliminary evidence supporting a correlation with autosomal recessive Cockayne syndrome (PMID: 23623389).
The ERCC5 gene is associated with autosomal recessive xeroderma pigmentosum (XP) (MedGen UID: 21943) and Cockayne syndrome (MedGen UID: 40363).
The ERCC6 gene is associated with autosomal recessive Cockayne syndrome B (MedGen UID: 155487) and cerebrooculofacioskeletal syndrome (MedGen UID: 66320). Additionally, the ERCC6 gene has preliminary evidence supporting a correlation with autosomal dominant primary ovarian insufficiency (MedGen UID: 38820).
The ERCC8 gene is associated with autosomal recessive Cockayne syndrome type A (MedGen UID: 155488) and UV-sensitive syndrome (MedGen UID: 766212).
The ERF gene is associated with autosomal dominant craniosynostosis (MedGen UID: 468569) and Chitayat syndrome (MedGen UID: 934646).
The ERLIN1 gene is associated with autosomal recessive hereditary spastic paraplegia 62 (SPG62) (MedGen UID: 924879). Additionally, the ERLIN1 gene has preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis (ALS) (PMID: 29453415).
The ERLIN2 gene is associated with autosomal dominant hereditary spastic paraplegia (HSP) (PMID: 29528531, 32094424) and autosomal recessive hereditary spastic paraplegia 18 (SPG18) (MedGen UID: 442343).
The ERMARD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant periventricular nodular heterotopia (MedGen UID: 816202).
The ESCO2 gene is associated with autosomal recessive Roberts-SC phocomelia syndrome (RBS) (MedGen UID: 95931).
The ESPN gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 324662). Additionally, the ESPN gene has preliminary evidence supporting a correlation with autosomal recessive Usher syndrome (MedGen UID: 1684669).
The ESR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant ovarian dysgenesis (MedGen UID: 215397) and autosomal recessive 46, XY syndromic disorders of sex development (DSD) (PMID: 29261182).
The ESRRB gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 324897).
The ETFA gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).
The ETFB gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).
The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).
ETHE1 is associated with autosomal recessive ethylmalonic encephalopathy (MedGen UID: 355966).
The EVC gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584). Additionally, the EVC gene has preliminary evidence supporting a correlation with autosomal dominant Weyers acrodental dysostosis (PMID: 7628126, 30076350).
The EVC2 gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584), and autosomal dominant Weyers acrodental dysostosis (WAD) (MedGen UID: 141594).
The EXO5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with primary congenital glaucoma (PMID: 22219654).
The EXOC3L2 gene is associated with an autosomal recessive ciliopathy (PMID: 30327448, 27894351).
The EXOC6B gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia with joint laxity, type 3 (MedGen UID: 1677378).
The EXOC8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 22700954).
The EXOSC2 gene is associated with autosomal recessive short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) (MedGen UID: 1615526).
The EXOSC3 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1B (MedGen UID: 766363). Additionally, the EXOSC3 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 23975261, 25149867).
The EXOSC8 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1C (MedGen UID: 808034).
The EXOSC9 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 1D (PCH1D) (MedGen UID: 1648387).
The EXPH5 gene is associated with autosomal recessive epidermolysis bullosa simplex (MedGen UID: 767281).
The EXT1 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 4612), previously called hereditary multiple exostoses.
The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 377018, previously called hereditary multiple exostoses). EXT2 is also associated with an autosomal recessive neurodevelopmental condition (MedGen UID: 909039).
The EXTL3 gene is associated with autosomal recessive EXTL3 deficiency (MedGen UID: 1381460).
The EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (MedGen UID: 351307, 82693).
The EYA4 gene is associated with autosomal dominant deafness with or without dilated cardiomyopathy (MedGen UID: 321966). Additional EYA4-related conditions have been reported (OMIM: 603550).
The EYS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 350427).
The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).
The FA2H gene is associated with autosomal recessive fatty acid hydroxylase-associated neurodegeneration (FAHN) (MedGenUID: 777150) and hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 501249).
The FAH gene is associated with autosomal recessive tyrosinemia type 1 (MedGen UID: 75688).
The FAM111A gene is associated with autosomal dominant Gracile bone dysplasia (MedGen UID: 356331) and Kenny-Caffey syndrome (KCS) (MedGen UID: 1373312).
The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 501134).
The FAM161A gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 244030).
The FAM186B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 26489029).
The FAM20A gene is associated with autosomal recessive enamel-renal syndrome (MedGen UID: 419162).
The FAM20C gene is associated with autosomal recessive Raine syndrome (RNS) (MedGen UID: 342416).
The FAM46A gene (also known as TENT5A) is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 1635201).
The FAM65B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive and autosomal dominant deafness (PMID: 24958875, 32631815).
The FAN1 gene is associated with autosomal recessive karyomegalic interstitial nephritis (KMIN) (MedGen UID: 766688). Additionally, the FAN1 gene has preliminary evidence supporting a correlation with autosomal dominant pancreatic and colorectal cancer (PMID: 26546047, 26052075).
The FANCA gene is associated with autosomal recessive Fanconi anemia, type A (FA-A) (MedGen UID: 483333).
The FAR1 gene is associated with autosomal recessive peroxisomal fatty acyl-CoA reductase 1 deficiency (MedGen UID: 863781) and an autosomal dominant neurological disorder (PMID: 33239752).
The FARS2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 22833457, 25851414, 27652284) and hereditary spastic paraplegia 77 (SPG77) (MedGen UID: 934717).
The FARSB gene is associated with autosomal recessive Rajab interstitial lung disease with brain calcifications (RILDBC) (MedGen UID: 462260).
The FASN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651).
The FASTKD2 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The FAT1 gene is associated with autosomal recessive colobomatous microphthalmia, ptosis, and cutaneous syndactyly with or without glomerulotubular nephropathy (PMID: 30862798). Additionally, the FAT1 gene has preliminary evidence supporting a correlation with spinocerebellar ataxia (PMID: 29053796) and congenital anomalies of the kidneys and urinary tract (CAKUT) (PMID: 26489027).
The FAT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia 45 (SCA45) (MedGen UID: 1622156).
The FAT4 gene is associated with autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome (MedGen UID: 863376) and Van Maldergem syndrome (MedGen UID: 816205).
The FBLN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive synpolydactyly (MedGen UID: 331290) and autosomal dominant Fechtner syndrome (PMID: 14635206).
The FBLN5 gene is associated with autosomal dominant hereditary neuropathy with or without age-related macular degeneration (HNARMD) (MedGen UID: 904080) and autosomal recessive cutis laxa, type 1A (ARCL1A) (MedGen UID: 472614).
The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysm and aortic dissection (MedGen UID: 1644766), isolated ectopia lentis (MedGen UID: 762106), stiff skin syndrome (MedGen UID: 348877), Weill-Marchesani syndrome 2 (MedGen UID: 358388), geleophysic dysplasia 2 (MedGen UID: 481684), acromicric dysplasia (MedGen UID: 78549) and Marfan lipodystrophy syndrome (MedGen UID: 934763).
The FBN2 gene is associated with autosomal dominant congenital contractural arachnodactyly (MedGen UID: 67391) and autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (PMID: 29907982, 30739908). Additionally, the FBN2 gene has preliminary evidence supporting a correlation with autosomal dominant macular degeneration (MedGen UID 863723).
The FBN3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 29156830) and arthrogryposis (PMID: 26752647).
The FBXL4 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 13 (MTDPS13), encephalomyopathic type (MedGen UID: 815922).
The FBXO11 gene is associated with an autosomal dominant FBXO11-related neurodevelopmental disorder (MedGen UID: 1648498)
The FBXW4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive split hand-split foot malformation (PMID: 23596994) and autosomal recessive radial ray defects (PMID: 22995989).
The FBXW7 gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 994848). Additionally, the FBXW7 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 20332316).
The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484).
The FERMT1 gene is associated with autosomal recessive Kindler syndrome (MedGen UID: 96060).
The FEZF1 gene is associated with autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 863425).
The FGD1 gene is associated with X-linked recessive Aarskog-Scott syndrome (MedGen UID: 61234). Additionally, the FGD1 gene has preliminary evidence supporting a correlation with X-linked intellectual disability (PMID: 11940089).
The FGF10 gene is associated with autosomal dominant lacrimoauriculodentodigital (LADD) syndrome (MedGen UID: 78545) and aplasia of lacrimal and salivary glands (ALSG) (MedGen UID: 57641).
The FGF12 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934652). Additionally, the FGF12 gene has preliminary evidence supporting a correlation with autosomal recessive developmental and epileptic encephalopathy (PMID: 37286232).
The FGF14 gene is associated with autosomal dominant spinocerebellar ataxia 27 (SCA27) (MedGen UID: 373075).
The FGF17 gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815313).
The FGF20 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive renal hypodysplasia/aplasia (MedGen UID: 816689).
The FGF23 gene is associated with autosomal dominant hypophosphatemic rickets (ADHR) (MedGen UID: 83346), and autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297).
The FGF3 gene is associated with autosomal recessive congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) (MedGen UID: 342803).
The FGF8 gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 765488). Additionally, the FGF8 gene has preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive holoprosencephaly (PMID: 29992659, 27363716).
The FGF9 gene is associated with autosomal dominant multiple synostoses syndrome (MedGen UID: 414116).
The FGFR1 gene is associated with autosomal dominant Kallmann syndrome 2 (MedGen UID: 289648), craniosynostosis (MedGen UID: 350148), Hartsfield syndrome (MedGen UID: 335111) and osteoglophonic dysplasia (MedGen UID: 96592). Additionally, the FGFR1 gene has preliminary evidence supporting a correlation with autosomal recessive Kallmann syndrome (PMID: 25394172) and Hartsfield syndrome (PMID: 23812909).
The FGFR2 gene is associated with autosomal dominant forms of craniosynostosis including Apert syndrome (MedGen UID: 7858), Crouzon syndrome (MedGen UID: 914990), Jackson-Weiss syndrome (MedGen UID: 208653), Pfeiffer syndrome (MedGen UID: 350148), and Beare-Stevenson syndrome (MedGen UID: 377668); bent bone dysplasia (MedGen UID: 482877); and Lacrimo-Auriculo-Dento-Digital Syndrome (LADD) (MedGen UID: 78545). Additionally, the FGFR2 gene has preliminary evidence supporting a correlation with autosomal recessive ectrodactyly and acinar dysplasia (PMID: 27323706).
The FGFR3 gene is associated with autosomal dominant skeletal dysplasias (MedGen UID: 1289, 98376, 358383) and craniosynostosis (MedGen UID: 355217, 394201). Other FGFR3-related conditions have been reported (OMIM: 134934).
The FGFRL1 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive arthrogryposis (PMID: 31230720).
The FH gene is associated with autosomal dominant FH tumor predisposition syndrome (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458).
The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808), Yunis-Varon syndrome (MedGen UID: 341818), and a FIG4-related neurodevelopmental condition (PMID: 36529678, 30740813, 32385905). In addition, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (MedGen UID: 393399).
The FKBP10 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 462568) and Bruck syndrome (MedGen UID: 342431).
The FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790).
The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID: 461763), type B5 (MDDGB5) (MedGen UID: 335764), and type C5 (MDDGC5) (MedGen UID: 339580).
The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585).
The FLCN gene is associated with autosomal dominant Birt-Hogg-DubƩ (BHD) syndrome (MedGen UID: 91070). Additionally, there is evidence suggesting affected individuals may have an increased risk of cutaneous melanoma (PMID: 23414156, 31687461), colon polyps, and colorectal cancer (PMID: 20522427, 20392993).
The FLNA gene is associated with X-linked periventricular heterotopia (MedGen UID: 376309) with or without Ehlers-Danlos features (MedGen UID: 375610) or interstitial lung disease (ILD) (PMID: 28898549), otopalatodigital spectrum disorders (MedGen UID: 433163), congenital short bowel syndrome (MedGen UID:Ā 412536), and cardiac valvular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).
The FLNB gene is associated with autosomal dominant atelosteogenesis type I (AOI) (MedGen UID: 82701), atelosteogenesis type III (AOIII) (MedGen UID: 777149), boomerang dysplasia (MedGen UID: 96579), Piepkorn osteochondrodysplasia (PMID: 29797497), Larsen syndrome (MedGen UID: 320634), and autosomal recessive spondylocarpotarsal synostosis syndrome (SCT) (MedGen UID: 341339). Additionally, the FLNB gene has preliminary evidence supporting a correlation with autosomal dominant congenital talipes equinovarus (PMID: 27395407) and autosomal recessive skeletal dysplasia with co-existing 46,XY gonadal dysgenesis (PMID: 29095481).
The FLRT3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815316).
The FLVCR1 gene is associated with autosomal recessive posterior column ataxia with retinitis pigmentosa (MedGen UID: 324636).
The FLVCR2 gene is associated with autosomal recessive proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) (MedGen UID: 384026).
The FMN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive complex developmental phenotype characterized by limb deformities, renal defects, and deafness (PMID: 20610440).
The FN1 gene is associated with autosomal dominant glomerulopathy with fibronectin deposits (GFND) (MedGen UID: 356149) and spondylometaphyseal dysplasia – corner fracture type (MedGen UID: 98146).
The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).
The FOXA2 gene is associated with autosomal dominant syndromic hypopituitarism with midline anomalies (PMID: 31294511).
The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748), Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534), primary congenital glaucoma (PCG) (PMID: 30653210), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 32475988).
The FOXC2 gene is associated with autosomal dominant lymphedema-distichiasis (LD) syndrome (MedGen UID: 75566).
The FOXE3 gene is associated with autosomal recessive congenital primary aphakia [CPA] (MedGen UID: 339935) and autosomal dominant anterior segment mesenchymal dysgenesis [ASMD] (MedGen UID: 350766) and thoracic aortic aneurysm and/or dissection (TAAD) (MedGen UID: 1377970).
The FOXF1 gene is associated with autosomal dominant alveolar capillary dysplasia with misalignment of pulmonary veins (MedGen UID: 45824).
The FOXG1 gene is associated with autosomal dominant congenital / atypical Rett syndrome (MedGen UID: 462055).
The FOXH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214) and autosomal dominant congenital heart disease, including tetralogy of Fallot and heterotaxy (PMID: 18538293, 32003456).
The FOXI1 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) (PMID: 29242249).
The FOXL2 gene is associated with autosomal dominant blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), types I and II (Medgen UID: 66312). Additionally, the FOXL2 gene has preliminary evidence supporting a correlation with autosomal dominant premature ovarian failure (MedGen UID: 373230).
The FOXP1 gene is associated with autosomal dominant intellectual disability with language impairment and with or without autistic features (IDLIAF) (MedGen UID 462273).
The FOXP3 gene is associated with X-linked recessive immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (MedGen UID: 83339).
The FOXRED1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) (MedGen UID: 374101).
The FRAS1 gene is associated with autosomal recessive Fraser syndrome (Medgen UID: 82692).
The FREM1 gene is associated with autosomal recessive Manitoba oculo-tricho-anal (MOTA) syndrome (MedGen UID: 383680) and bifid nose with or without anorectal and renal anomalies (BNAR) syndrome (MedGen UID: 413305). Additionally, the FREM1 gene has preliminary evidence supporting a correlation with autosomal dominant trigonocephaly (PMID: 21931569) and autosomal recessive hydrocephalus and short-limbed dwarfism (PMID: 28622873).
The FREM2 gene is associated with autosomal recessive Fraser syndrome (MedGenUID: 1624349).
The FRMD7 gene is associated with X-linked infantile nystagmus (MedGen UID: 333352).
The FRRS1L gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934737).
The FSCN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinal dystrophies (PMID: 16280978, 17251446, 33946315).
The FSHB gene is associated with autosomal recessive hypogonadotropic hypogonadism without anosmia (MedGen UID: 341603).
The FTL gene is associated with autosomal dominant neurodegeneration with neuroferritinopathy (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (MedGen UID: 816420).
The FTO gene is associated with autosomal recessive growth retardation, developmental delay, and facial dysmorphism (GDFD) (MedGen UID: 414158).
The FUCA1 gene is associated with autosomal recessive fucosidosis (MedGen UID: 5288)
The FCSK gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with a congenital disorder of glycosylation with defective fucosylation (MedGen UID: 1647704).
The FXYD2 gene is associated with autosomal dominant hypomagnesemia (MedGen UID: 320542).
The FYCO1 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 351249)
The FZD2 gene is associated with autosomal dominant Robinow syndrome (MedGen UID: 413823).
The FZD4 gene is associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) (MedGen UID: 343561). Additionally, the FZD4 gene has preliminary evidence supporting a correlation with susceptibility to retinopathy of prematurity (ROP) (PMID: 20141357, 23441120).
The FZD5 gene is associated with autosomal dominant non-syndromic coloboma (PMID: 26908622, 32737437).
The G6PC gene is associated with autosomal recessive glycogen storage disease type Ia (GSDIa) (MedGen UID: 433536).
The GAA gene is associated with autosomal recessive Pompe disease, also known as glycogen storage disease type II (GSDII) (MedGen UID: 5340).
The GABBR2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1633749) and Rett syndrome (PMID: 28856709).
The GABRA1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).
The GABRA2 gene is associated with autosomal dominant developmental and epileptic encephalopathy (MedGen UID: 1684724).
The GABRA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (PMID: 19429026, 21930603).
The GABRB1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934658).
The GABRB2 gene is associated with autosomal dominant intellectual disability and epilepsy (PMID: 27622563, 27789573, 29100083).
The GABRB3 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934679), generalized epilepsy with febrile seizures plus, and familial febrile seizures (PMID: 28053010). Additionally, the GABRB3 gene has preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (CAE), a type of autosomal dominant idiopathic generalized epilepsy (MedGen UID: 393654) and a correlation with autosomal recessive early infantile epileptic encephalopathy (PMID: 35718920).
The GABRD gene is associated with an autosomal dominant neurodevelopmental disorder (PMID: 34633442, 15115768, 16023832).
The GABRG2 gene is associated with autosomal dominant childhood absence epilepsy (CAE) (MedGen UID: 334707), generalized epilepsy with febrile seizures plus, and familial febrile seizures (MedGen UID: 370755) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1680535).
The GAD1 gene is associated with autosomal recessive developmental and epileptic encephalopathy (MedGen UID: 978184). Additionally, the GAD1 gene has preliminary evidence supporting a correlation with autosomal recessive spastic quadriplegic cerebral palsy 1 (CPSQ1) (MedGen UID: 442852).
The GAL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with familial temporal lobe epilepsy 8 (ETL8) (PMID: 25691535).
The GALC gene is associated with autosomal recessive Krabbe disease (MedGen UID: 44131).
The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).
The GALNS gene is associated with autosomal recessive mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A (MedGen UID: 43375).
The GALNT3 gene is associated with autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297)
The GALT gene is associated with autosomal recessive galactosemia (MedGen UID:344772). The Duarte variant, c.-119_-116del, is the most common GALT variant (PMID: 19904210) and, if present, is reported in the Complete Results table. Familial variant testing is available upon request.
The GAMT gene is associated with autosomal recessive guanidinoacetate methyltransferase (GAMT) deficiency (MedGen UID: 154356).
The GAN gene is associated with autosomal recessive giant axonal neuropathy 1 (GAN1) (MedGen UID: 376775).
The GANAB gene is associated with autosomal dominant polycystic kidney disease (MedGen UID: 854672). Additionally, the GANAB gene has preliminary evidence supporting a correlation with congenital heart defect and neurodevelopmental disorder (PMID: 26785492).
The GAS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (PMID 20583177, 21842183).
The GAS8 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 852235).
The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).
The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660).
The GATA3 gene is associated with autosomal dominant hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Medgen UID: 374443).
The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The GATA4 gene is also associated with autosomal dominant atrial fibrillation (PMID: 21708142). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446).
The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933) and autosomal dominant dilated cardiomyopathy (PMID: 25119427, 35962153). Additionally, there is preliminary evidence supporting a correlation with isolated congenital heart defects (PMID: 28991257), atrial fibrillation (PMID: 22257684) and diabetes mellitus (PMID: 23223019).
The GATAD2B gene is associated with an autosomal dominant syndrome involving intellectual disability, delayed myelination, seizures and dysmorphic features (MedGen UID: 767362).
The GATM gene is associated with autosomal dominant renal Fanconi syndrome with kidney failure (PMID: 29654216) and autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367).
The GBA gene is associated with autosomal recessive Gaucher disease (MedGen UID: 409531). Additionally, GBA is associated with an increased risk for autosomal dominant late-onset Parkinson disease (MedGen UID: 463618).
The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687).
The GBE1 gene is associated with autosomal recessive glycogen storage disease IV (GSD IV) (MedGen UID: 6642) and autosomal recessive adult polyglucosan body disease (APBD) (MedGen UID: 342338).
The GCDH gene is associated with autosomal recessive glutaric acidemia type I (MedGen UID: 124337).
The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121), and autosomal recessive BH4-deficient hyperphenylalaninemia, also known as GTP cyclohydrolase I deficiency (MedGen UID: 75683).
The GCM2 gene is associated with autosomal recessive hypoparathyroidism (MedGen UID: 327077). Additionally, the GCM2 gene has preliminary evidence supporting a correlation with autosomal dominant hypoparathyroidism (PMID: 18583467, 18712808) and hyperparathyroidism (PMID: 27745835, 32576032).
The GCNT2 gene is associated with autosomal recessive cataracts with adult i phenotype (MedGen UID: 811703).
The GCSH gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The GDAP1 gene is associated with autosomal dominant and recessive forms of Charcot-Marie-Tooth (CMT) disease (MedGen UID: 347821, 375064, 334012, 375113).
The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF1 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 17924340).
The GDF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a skeletal disorder with ocular involvement (PMID: 19864492, 24859618).
The GDF5 gene is associated with autosomal dominant brachydactyly (MedGen UID: 350590) and symphalangism (MedGen UID: 815434), and autosomal recessive Grebe syndrome (MedGen UID: 75557), acromesomelic dysplasia, Hunter-Thompson type (AMDH) (MedGen UID: 419681), and Du Pan syndrome (MedGen UID: 346432).
The GDF6 gene is associated with autosomal dominant multiple synostoses syndrome (MedGen UID: 90977). Additionally, the GDF6 gene has preliminary evidence supporting a correlation with autosomal dominant Klippel-Feil syndrome (KFS) (MedGen UID: 396196), autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 811616), autosomal dominant isolated microphthalmia (MCOP) (MedGen UID: 414346), and autosomal digenic microphthalmia with coloboma (MCOPCB) (MedGen UID: 462318).
The GFAP gene is associated with autosomal dominant Alexander disease (MedGen UID: 78724). Additionally, the GFAP gene has preliminary evidence supporting a correlation with autosomal recessive Alexander disease (PMID: 32374915).
The GFER gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 416525).
The GFM1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (COXPD) (MedGen UID: 322999).
The GFM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leigh syndrome (MedGen UID: 941331).
The GGCX gene is associated with autosomal recessive combined deficiency of vitamin K-dependent clotting factors (MedGen UID: 376381) and pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (MedGen UID: 332067). Additionally, the GGCX gene has preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (PAH) (PMID: 31727138).
The GHR gene is associated with autosomal recessive Laron syndrome (MedGen UID: 78776) and autosomal dominant growth hormone insensitivity syndrome (GHIS) (MedGen UID: 346958).
The GHRHR gene is associated with autosomal recessive isolated growth hormone deficiency (MedGen UID: 1648300).
The GHSR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant short stature due to GHSR deficiency (MedGen UID: 1633096) and autosomal recessive isolated growth hormone deficiency (PMID: 19789204).
The GIPC3 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 355626).
The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).
The GJA3 gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 356152).
The GJA8 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 349374) and autosomal recessive congenital cataracts (PMID: 21720542).
The GJB1 gene (also known as Connexin 32 or Cx32) is associated with X-linked Charcot-Marie-Tooth disease type 1X (CMT1X) (MedGen UID: 98290).
The GJB2 gene is associated with autosomal recessive and autosomal dominant non-syndromic deafness (MedGen UIDs: 388720, 436512). Additionally, the GJB2 gene is associated with autosomal dominant syndromic deafness including Bart-Pumphrey syndrome (MedGen UID: 82727), hystrix-like ichthyosis with deafness (HID) (MedGen UID: 355410), palmoplantar keratoderma with deafness (PPK) (MedGen UID: 332030), Vohwinkel syndrome (MedGen UID: 78579), and keratitis-ichthyosis-deafness (KID) syndrome (MedGen UID: 120536).
The GJB3 gene is associated with autosomal dominant and recessive erythrokeratodermia variabilis (EKVP) (MedGen UID: 133200). In addition, there is preliminary evidence supporting a correlation with autosomal dominant and recessive forms of deafness (MedGen UID: 612644, 388720).
The GJB4 gene is associated with autosomal dominant erythrokeratodermia variabilis (EKVP) (MedGen UID: 75587). Additionally, the GJB4 gene has preliminary evidence supporting a correlation with non-syndromic deafness (PMID: 17259707).
The GJB6 gene is associated with autosomal dominant Clouston type ectodermal dysplasia 2 (ECTD2) (MedGen UID: 56416). Additionally, the GJB6 gene has preliminary evidence supporting an association with autosomal recessive non-syndromic deafness (DFNB1B) (MedGen UID: 436381), autosomal dominant non-syndromic deafness (DFNA3B) (MedGen UID: 382182) and digenic inheritance of deafness with the GJB2 gene (MedGen UID: 388720).
The GJC2 gene is associated with autosomal dominant hereditary lymphatic malformation type 3 (LMPHM3) (MedGen UID: 1652857). The GJC2 gene is also associated with a spectrum of autosomal recessive neurological conditions including hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and hypomyelinating leukodystrophy 2 (HLD2), which is also referred to as Pelizaeus-Merzbacher-like disease (MedGen UID: 325157).
The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).
The GLB1 gene is associated with autosomal recessive GM1 gangliosidosis (MedGen UID: 468425) and mucopolysaccharidosis, type IVB (MPS IVB, also known as Morquio B) (MedGen UID: 43376).
The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The GLI2 gene is associated with autosomal dominant Culler-Jones syndrome (MedGen UID: 862916) and autosomal dominant holoprosencephaly (MedGen UID 324369). Additionally, the GLI2 gene has preliminary evidence supporting a correlation with autosomal dominant septo-optic dysplasia (PMID: 25056824).
The GLI3 gene is associated with autosomal dominant Greig cephalopolysyndactyly syndrome (MedGen UID: 120531), Pallister-Hall syndrome (MedGen UID: 120514) and polydactyly (MedGen UID: 67394, 357420), and autosomal recessive Pallister-Hall-like syndrome (PMID: 32112393).
The GLIS2 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 369409).
The GLIS3 gene is associated with autosomal recessive neonatal diabetes mellitus with congenital hypothyroidism (NDH) (MedGen UID: 347541). Additionally, the GLIS3 gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28472652).
The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019).
The GLRB gene is associated with autosomal recessive hyperekplexia 2 (HKPX2) (MedGen UID: 766205).
The GLRX5 gene is associated with autosomal recessive congenital sideroblastic anemia (MedGen UID: 895975). Additionally, the GLRX5 gene has preliminary evidence supporting a correlation with childhood-onset spasticity with hyperglycinemia (MedGen UID: 905660)
The GLUL gene is associated with autosomal recessive glutamine synthetase deficiency (PMID: 16267323, 21353613).
The GLYCTK gene is associated with autosomal recessive D-glyceric aciduria (MedGen UID: 226941).
The GM2A gene is associated with autosomal recessive GM2-gangliosidosis, AB variant, also known as GM2 activator deficiency (MedGen UID: 78657).
The GMNN gene is associated with autosomal dominant Meier-Gorlin syndrome (MedGen UID: 905079).
The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507), and autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).
The GNA11 gene is associated with autosomal dominant hypocalcemia (ADH) (MedGen UID: 815573) and familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 374447). This assay is not intended for disorders of somatic mosaicism.
The GNAI3 gene is associated with autosomal dominant auriculocondylar syndrome (MedGen UID: 1639644). Additionally, the GNAI3 gene has preliminary evidence supporting a correlation with ocular albinism (PMID: 27607449).
The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361).
The GNAO1 gene is associated with an autosomal dominant spectrum of conditions including developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815936) and neurodevelopmental disorder with involuntary movements (NEDIM) (MedGen UID: 1374697).
The GNAS gene is associated with autosomal dominant progressive osseous heteroplasia (MedGen UID: 137714), pseudohypoparathyroidism Ia (MedGen UID: 46178), and pseudopseudohypoparathyroidism (MedGen UID: 10995). Postzygotic somatic mutations in the GNAS gene are associated with McCune-Albright syndrome (MedGen UID: 69164). This assay is not intended for disorders of somatic mosaicism.
The GNAT1 gene is associated with autosomal dominant congenital stationary night blindness (MedGen UID: 355313) and autosomal recessive retinitis pigmentosa (PMID: 31736247, 27977773, 26472407). Additionally, the GNAT1 gene has preliminary evidence supporting a correlation with high myopia (PMID: 29453956).
The GNAT2 gene is associated with autosomal recessive achromatopsia (MedGen UID: 330669).
The GNB1 gene is associated with autosomal dominant intellectual disability 42 (MedGen UID: 934741).
The GNB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with night-blindness (PMID: 27063057) and kidney dysplasia (PMID: 26489027).
The GNE gene is associated with autosomal dominant sialuria (MedGen UID: 137980) and autosomal recessive GNE-related myopathy (MedGen UID: 381298).
The GNPAT gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 2 (RCDP2) (MedGen UID: 341734).
The GNPTAB gene is associated with autosomal recessive mucolipidosis type II alpha/beta (ML II), previously known as I-cell disease or Pacman dysplasia (MedGen UID: 435914), and mucolipidosis type III alpha/beta (ML III), previously known as pseudo-Hurler polydystrophy (MedGen UID: 10988).
The GNPTG gene is associated with autosomal recessive mucolipidosis type III gamma (ML III gamma) (MedGen UID: 340743).
The GNRH1 gene is associated with autosomal dominant and autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) (MedGen UID: 347328, PMID: 27094476).
The GNRHR gene is associated with autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) (MedGen UID: 87440).
The GNS gene is associated with autosomal recessive mucopolysaccharidosis type IIID (MPS IIID or Sanfilippo D) (MedGen UID: 88602).
The GORAB gene is associated with autosomal recessive geroderma osteodysplastica (MedGen UID: 98149).
The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257). Additionally, the GOSR2 gene has preliminary evidence supporting a correlation with autosomal recessive muscular dystrophy and developmental delay (PMID: 29855340, 25326637).
The GOT2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 483052).
The GPAA1 gene is associated with an autosomal recessive congenital disorder of glycosylation (GPAA1-CDG) (MedGen UID: 1615160).
The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).
The GPC6 gene is associated with autosomal recessive omodysplasia (MedGen UID: 340513).
The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761) and autosomal dominant GPHN-related spectrum disorder including seizures, autism and intellectual disability (PMID: 23393157). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940).
The GPR143 gene is associated with X-linked congenital nystagmus (MedGen UID: 463102) and ocular albinism (MedGen UID: 90991).
The GPR161 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to medulloblastoma (PMID: 31609649).
The GPR179 gene is associated with autosomal recessive congenital stationary night blindness (MedGen UID: 482845).
The GPR45 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with cone-rod dystrophy (PMID: 29320387).
The GPR88 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive childhood onset chorea with psychomotor impairment (MedGen UID: 934754).
The GPSM2 gene is associated with autosomal recessive Chudley-McCullough syndrome (CMCS) (MedGen UID: 347699).
The GPX4 gene is associated with autosomal recessive spondylometaphyseal dysplasia, Sedaghatian type (MedGen UID: 340816, PMID: 32827718, 24706940).
The GREB1L gene is associated with autosomal dominant renal hypodysplasia/aplasia (MedGen UID: 1626497). Additionally, the GREB1L gene has preliminary evidence supporting a correlation with autosomal dominant inner ear malformations and deafness (PMID: 29955957, 32585897).
The GRHL2 gene is associated with autosomal recessive ectodermal dysplasia short stature syndrome (ECTDS) (MedGen UID: 863424), and autosomal dominant deafness (MedGen UID: 324846) and posterior polymorphous corneal dystrophy (PPCD) (PMID: 29499165).
The GRHL3 gene is associated with autosomal dominant van der Woude syndrome (MedGen UID: 338272).
The GRHPR gene is associated with autosomal recessive primary hyperoxaluria, type 2 (PH2) (MedGen UID: 120616).
The GRIA3 gene is associated with X-linked intellectual disability (MedGen UID: 1675094) and early infantile epileptic encephalopathy (PMID: 34161333, 35031858).
The GRID2 gene is associated with autosomal recessive spinocerebellar ataxia 18 (SCAR18) (MedGen UID: 863942). Additionally, the GRID2 gene has preliminary evidence supporting a correlation with autosomal dominant ataxia (PMID: 25841024).
The GRIN1 gene is associated with autosomal dominant and autosomal recessive developmental and epileptic encephalopathy (MedGen UIDs: 990128, 1646665), and autosomal dominant intellectual disability (MedGen UID: 481912).
The GRIN2A gene is associated with a spectrum of autosomal dominant developmental and epileptic encephalopathy (MedGen UID: 812732).
The GRIN2B gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 830511) and autosomal dominant intellectual disability (MedGen UID: 462761).
The GRIN2D gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934654).
The GRIP1 gene is associated with autosomal recessive Fraser syndrome (MedGen UID: 1621907).
The GRM1 gene is associated with autosomal dominant spinocerebellar ataxia 44 (SCA44) (MedGen UID: 1611168) and with autosomal recessive spinocerebellar ataxia 13 (SCAR13) (MedGen UID: 766730).
The GRM6 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 342484).
The GRM7 gene is associated with autosomal recessive leukodystrophy (PMID: 28097321, 27435318). Additionally, the GRM7 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 30315573).
The GRN gene is associated with autosomal dominant GRN-related frontotemporal dementia (FTD-GRN) (MedGen UID: 375285) and autosomal recessive neuronal ceroid lipofuscinosis type 11 (CLN11) (MedGen UID: 761331).
The GRXCR1 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 237587).
The GRXCR2 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 856148).
The GSC gene is associated with autosomal recessive short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) (MedGen UID: 355971). Additionally, the GSC gene has preliminary evidence supporting a correlation with autosomal dominant microtia (PMID: 19935299).
The GSN gene is associated with autosomal dominant amyloidosis, Finnish type (MedGen UID: 301243).
The GTF2E2 gene is associated with autosomal recessive trichothiodystrophy (MedGen UID: 934752).
The GTF2H5 gene is associated with autosomal recessive trichothiodystrophy (TTD) (MedGen UID: 865608).
The GTPBP2 gene is associated with autosomal recessive Jaberi-Elahi syndrome (MedGen UID: 1647359).
The GTPBP3 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 23 (COXPD23) (MedGen UID: 863884).
The GUCA1A gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 356104).
The GUCA1B gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 462540).
The GUCY2D gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 419026), autosomal recessive congenital stationary night blindness (MedGen UID: 1684817) and autosomal dominant cone-rod dystrophy (MedGen UID: 400963).
The GUF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934704) and severe microcephaly (PMID: 29302074).
The GUSB gene is associated with autosomal recessive mucopolysaccharidosis type VII (MPS VII, also known as Sly syndrome) (MedGen UID: 43108).
The GZF1 gene is associated with autosomal recessive Larsen syndrome (PMID: 28475863).
The H6PD gene is associated with autosomal recessive cortisone reductase deficiency (MedGen UID: 764630).
The HACE1 gene is associated with autosomal recessive spastic paraplegia and psychomotor disabilities with or without seizures (SPPRS) (MedGen UID: 897828).
The HAND1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypoplastic left heart syndrome, atrioventricular septal defects and ventricular septal defects (PMID: 19586923, 18276607, 22032825).
The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 898344) and autosomal recessive Usher syndrome type IIIB (MedGen UID: 482696). Additionally, the HARS gene has preliminary evidence supporting a correlation multi-system ataxic syndrome (PMID: 32333447).
The HARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 767019).
The HCCS gene is associated with X-linked dominant microphthalmia with linear skin defects (MLS) syndrome (MedGen ID: 163210).
The HCN1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862968), and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 943606)
The HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517) and sinus node dysfunction or bradycardia (MedGen UID: 320273). Some individuals with LVNC and/or arrhythmia are also reported to have aortic disease (PMID: 31731876). Additionally, the HCN4 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 22840528).
The HDAC4 gene is associated with autosomal dominant brachydactyly-intellectual disabilities syndrome, also known as 2q37 deletion syndrome (MedGen UID: 419169) and autosomal dominant neurodevelopmental disorder with central hypotonia and dysmorphic facies (MedGen UID: 991171).
The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752) and syndromic intellectual disability (ID) (PMID: 22889856, 29519750).
The HEPACAM gene is associated with autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) (MedGen UID: 462705), and autosomal dominant megalencephalic leukoencephalopathy with subcortical cysts 2B (MLC2B) (MedGen UID: 462706).
The HERC1 gene is associated with an autosomal recessive neurodevelopmental syndrome (MedGen UID: 934733).
The HES7 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 462292).
The HESX1 gene is associated with autosomal recessive and autosomal dominant septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).
The HEXA gene is associated with autosomal recessive Tay-Sachs disease, also known as beta-hexosaminidase A (HEXA) deficiency (MedGen UID: 11713).
The HEXB gene is associated with autosomal recessive Sandhoff disease (MedGen UID: 11313).
The HGD gene is associated with autosomal recessive alkaptonuria (MedGen UID: 1413).
The HGF gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 374909). Additionally, the HGF gene has preliminary evidence supporting a correlation with autosomal dominant lymphedema (PMID: 18564920) and autosomal dominant autism (PMID: 28191890).
The HGSNAT gene is associated with autosomal recessive mucopolysaccharidosis type IIIC (MPS IIIC or Sanfilippo C) (MedGen UID: 39477) and retinitis pigmentosa (RP) (MedGen UID: 907690).
The HHAT gene is associated with autosomal recessive skeletal dysplasia, microcephaly, and cerebellar vermis hypoplasia, with or without 46, XY disorder of sex development (PMID: 24784881, 30912300).
The HIBCH gene is associated with autosomal recessive 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency (MedGen UID: 83349).
The HIKESHI gene is associated with autosomal recessive hypomyelinating leukodystrophy-13 (HLD13) (MedGen UID: 896545).
The HIVEP2 gene is associated with autosomal dominant intellectual disability (MedGen UID: 934738).
The HK1 gene is associated with autosomal recessive hexokinase deficiency (MedGen UID: 461693), autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200), and an autosomal dominant neurodevelopmental syndrome (MedGen UID: 1684774). Additionally, the HK1 gene has preliminary evidence supporting a correlation with autosomal dominant hexokinase deficiency (PMID: 27282571) and autosomal recessive Charcot-Marie-Tooth 4A (CMT4A) (PMID: 23996628).
The HLCS gene is associated with autosomal recessive holocarboxylase synthetase deficiency (MedGen UID: 120653).
The HMCN1 gene is associated with autosomal dominant retinitis pigmentosa (PMID: 28512305). Additionally, the HMCN1 gene has preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration (MedGen UID: 400475).
The HMGB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with microphthalmia (PMID: 24993872).
The HMGCL gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl (3HMG)-CoA lyase deficiency (MedGen UID: 78692 ).
The HMX1 gene is associated with autosomal recessive oculoauricular syndrome (MedGen UID: 393758).
The HNF1A gene is associated with autosomal dominant maturity-onset diabetes of the young 3 (MODY3) (MedGen UID: 324942). Additionally, the HNF1A gene has preliminary evidence supporting a correlation with autosomal dominant renal tubular proteinuria (PMID: 27083284).
The HNF1B gene is associated with autosomal dominant renal cysts and diabetes syndrome (MedGen UID: 755090).
The HNRNPK gene is associated with autosomal dominant Au-Kline syndrome (MedGen UID: 900671).
The HNRNPU gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1392637).
The HOGA1 gene is associated with autosomal recessive primary hyperoxaluria type 3 (PH3) (MedGen UID: 462228).
The HOMER2 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 898808).
The HOXA13 gene is associated with autosomal dominant hand-foot genital syndrome (MedGen UID: 331103) and Guttmacher syndrome (MedGen UID: 401304).
The HOXC13 gene is associated with autosomal recessive hair and nail ectodermal dysplasia (MedGen UID: 767041).
The HOXD13 gene is associated with autosomal dominant synpolydactyly (MedGen UID: 437845).
The HPCA gene is associated with autosomal recessive dystonia 2 (DYT2) (MedGen UID: 346511).
The HPGD gene is associated with autosomal recessive primary hypertrophic osteoarthropathy (MedGen UID: 1641972). Additionally, the HPGD gene has preliminary evidence supporting a correlation with isolated congenital digital clubbing (PMID: 18805827).
The HPRT1 gene is associated with X-linked HPRT deficiency which includes a spectrum of Lesch Nyhan syndrome (MedGen UID: 9721) to isolated hyperuricemia with gout (MedGen UID: 82770).
The HPS1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 1 (HPS1) (MedGen UID: 419514).
The HPS3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 3 (HPS3) (MedGen UID: 854708).
The HPS4 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 483344).
The HPS5 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854711).
The HPS6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854714).
The HPSE2 gene is associated with autosomal recessive Ochoa syndrome, also known as urofacial syndrome (MedGen UID: 98015).
The HR gene is associated with autosomal recessive alopecia universalus congenita (MedGen UID: 349262), autosomal recessive atrichia with papular lesions (MedGen UID: 395299) and autosomal dominant Marie Unna hereditary hypotrichosis (MedGen UID: 413053).
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).
The HS6ST1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766891).
The HSD11B2 gene is associated with autosomal recessive apparent mineralocorticoid excess (MedGen UID: 854657).
The HSD17B10 gene is associated with X-linked dominant 2-methyl-3-hydroxybutyric aciduria (MedGen UID: 336957).
The HSD17B3 gene is associated with autosomal recessive 17-beta hydroxysteroid dehydrogenase 3 deficiency (MedGen UID: 120626).
The HSD17B4 gene is associated with autosomal recessive D-bifunctional protein (DBP) deficiency (MedGen UID: 137982), and autosomal recessive Perrault syndrome (MedGen UID: 1640257).
The HSD3B2 gene is associated with autosomal recessive 3-beta-hydroxysteroid dehydrogenase deficiency (MedGen UID: 452446).
The HSF4 gene is associated with autosomal dominant and autosomal recessive cataracts (MedGen UID: 854893).
The HSPD1 gene is associated with autosomal dominant hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP60 disease (Medgen UID: 383026).
The HSPG2 gene is associated with autosomal recessive Schwartz-Jampel syndrome type 1 (SJS1) (MedGen UID: 19892) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH) (MedGen UID: 98144).
The HTRA1 gene is associated with autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (CADASIL2) (MedGenUID: 895965) and autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (MedGen UID: 325051).
The HTT gene is associated with autosomal recessive Lopes-Maciel-Rodan syndrome (LOMARS) (MedGen UID: 1379711). Additionally, the HTT gene is associated with autosomal dominant Huntington disease (HD) (MedGen UID: 5654) caused by triplet repeat expansions. Triplet repeat expansions are not evaluated by this assay.
The HUWE1 gene is associated with X-linked syndromic Turner type intellectual disability (IDXST) (MedGen UID: 394425).
The HYAL1 gene is associated with autosomal recessive mucopolysaccharidosis type IX (MPS IX) (MedGen UID: 226942).
The HYLS1 gene is associated with autosomal recessive hydrolethalus syndrome (MedGen UID: 343455). Additionally, the HYLS1 gene has preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 26830932).
The IARS gene is associated with an autosomal recessive growth restriction, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) (MedGen UID: 934687).
The IARS2 gene is associated with autosomal recessive cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) (MedGen UID: 808053). Additionally, the IARS2 gene has preliminary evidence supporting a correlation with autosomal recessive isolated pediatric cataract (PMID: 29914532).
The IBA57 is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 3 (MMDS3) (MedGen UID: 815495). Additionally, the IBA57 gene has preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 74 (MedGen UID: 908839).
The ICK gene (also known as CILK1) is associated with autosomal recessive endocrine-cerebro-osteodysplasia (MedGen UID: 390740).
The IDH2 gene is associated with autosomal dominant D-2-hydroxyglutaric aciduria type 2 (MedGen UID: 462259).
The IDH3A gene is associated with autosomal recessive inherited retinal disease (IRD) with or without macular pseudocoloboma (PMID: 30058936, 31012789, 28412069). Additionally, the IDH3A gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (PMID: 28058510).
The IDH3B gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 382614). Additionally, the IDH3B gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 28991257), and autosomal dominant paraganglioma-pheochromocytoma syndrome (PMID: 28720665).
The IDS gene is associated with X-linked recessive mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome) (MedGen UID: 7734). Additionally, the IDS gene has preliminary evidence supporting a correlation with tetralogy of Fallot (PMID: 22912587).
The IDUA gene is associated with autosomal recessive mucopolysaccharidosis type I (MPS I) (MedGen UID: 39698, 88566, 6453).
The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).
The IFIH1 gene is associated with autosomal dominant Aicardi-Goutieres syndrome (AGS) (MedGen UID: 854829) and Singleton-Merton syndrome (MedGen UID: 899946). Additionally, the IFIH1 gene has preliminary evidence supporting a correlation with autosomal recessive very early onset inflammatory bowel disease (VEO-IBD) (PMID: 34185153).
The IFITM5 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 419332).
The IFT122 gene is associated with autosomal recessive cranioectodermal dysplasia 1 (CED1) (MedGen UID: 96586).
The IFT140 gene is associated with autosomal recessive Mainzer-Saldino syndrome (MedGen UID: 341455), and retinitis pigmentosa (MedGen UID: 1619674).
The IFT172 gene is associated with autosomal recessive Bardet-Biedl syndrome (PMID: 26763875), short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 816505), and non-syndromic retinitis pigmentosa (PMID: 25168386). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 24140113).
The IFT27 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 855173).
The IFT43 gene is associated with autosomal recessive cranioectodermal dysplasia (MedGen UID: 481437). Additionally, the IFT43 gene has preliminary evidence supporting a correlation with autosomal recessive retinal degeneration (PMID: 28973684).
The IFT52 gene is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (PMID: 26880018, 27466190).
The IFT57 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive orofaciodigital syndrome (MedGen UID: 1633851).
The IFT74 gene is associated with autosomal recessive Joubert syndrome (PMID: 33531668) and autosomal recessive asphyxiating thoracic dystrophy (ATD) (PMID: 33875766, 36865301). Additionally, the IFT74 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 934674), autosomal dominant amyotrophic lateral sclerosis (ALS) (PMID: 17166276), and autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 33770252).
The IFT80 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 468503).
The IFT81 gene is associated with a spectrum of autosomal recessive ciliopathies including short-rib thoracic dystrophy (SRTD) (MedGen UID: 1635837) and nephronophthisis with polydactyly (PMID: 26275418). Additionally, the IFT81 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 28460050).
The IFT88 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinal degeneration (PMID: 29978320) and isolated cleft lip and palate (PMID: 28069795).
The IGF1 gene is associated with autosomal recessive insulin-like growth factor I (IGF1) deficiency (MedGen UID: 373337). Additionally, the IGF1 gene has preliminary evidence supporting a correlation with autosomal dominant short stature with reduced head circumference (PMID: 20668042, 15769976).
The IGF1R gene is associated with autosomal dominant and autosomal recessive growth delay due to insulin-like growth factor I resistance (MedGen UID: 338622). Additionally, the IGF1R gene has preliminary evidence supporting a correlation with autosomal dominant craniosynostosis (PMID: 21204214, 29168297).
The IGF2 gene is associated with autosomal dominant Russell-Silver syndrome (MedGen UID: 104492). Parent-of-origin inheritance impacts the manifestation of disease in IGF2.
The IGSF10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (PMID: 31042289) and delayed growth and puberty (PMID: 27137492).
The IHH gene is associated with autosomal dominant brachydactyly type A1 (BDA1) (MedGen UID: 354673) and autosomal recessive acrocapitofemoral dysplasia (ACFD) (MedGen UID: 334681).
The IL11RA gene is associated with autosomal recessive craniosynostosis and dental anomalies (MedGen UID: 481703).
The IL17RD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 815305).
The IL1RAPL1 gene is associated with X-linked recessive intellectual disability (MedGen UID: 208680).
The IL1RN gene is associated with autosomal recessive interleukin 1 receptor antagonist deficiency (DIRA) (MedGen UID: 411230).
The ILDR1 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 351225).
The IMPAD1 gene is associated with autosomal recessive chondrodysplasia with joint dislocations, GPAPP type (MedGen UID: 481387).
The IMPDH1 gene is associated with autosomal dominant and recessive retinitis pigmentosa (RP) (MedGen UID: 357247). Additionally, the IMPDH1 gene has preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis (LCA) (MedGen UID: 326698).
The IMPG1 gene is associated with autosomal dominant macular dystrophy (MedGen UID: 863779; PMID: 23993198), autosomal recessive macular dystrophy (PMID: 23993198), and autosomal dominant retinitis pigmentosa (PMID: 32817297). Additionally, the IMPG1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 32817297).
The IMPG2 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462169). Additionally, the IMPG2 gene has preliminary evidence supporting a correlation with autosomal dominant vitelliform macular dystrophy (VMD) (PMID: 31264916, 28644393, 30300315).
The INF2 gene is associated with autosomal dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID: 482475) and focal segmental glomerulosclerosis (FSGS5) (MedGen UID: 413315).
The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502) and retinitis pigmentosa (PMID: 29555955, 28559085, 29186038).
The INPPL1 gene is associated with autosomal recessive opsismodysplasia (OPSMD) (MedGen UID: 140927).
The INTU gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive oral-facial-digital syndrome (PMID: 29451301) and a spectrum of conditions affecting the skeletal system (PMID: 27158779, 29068549).
The INVS gene is associated with autosomal recessive infantile nephronophthisis (MedGen UID: 355574).
The IQCB1 gene is associated with autosomal recessive nephronophthisis and Leber congenital amaurosis (LCA), which, when present together, are referred to as Senior-Loken syndrome (MedGen UID: 332226).
The IQSEC2 gene is associated with X-linked intellectual disability (MedGen UID: 444070).
The IREB2 gene is associated with autosomal recessive early onset neurodegeneration with choreoathetoid movements and microcytic anemia (MedGen UID: 941852).
The IRF6 gene is associated with autosomal dominant popliteal pterygium syndrome (MedGen UID: 78543) and autosomal dominant Van der Woude syndrome (MedGen UID:61233). Additionally, the IRF6 gene has preliminary evidence supporting a correlation with non-syndromic orofacial cleft (MedGen UID: 332391).
The IRX5 gene is associated with autosomal recessive Hamamy syndrome (MedGen UID: 370148).
The ISCA1 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome-5 (MMDS5) (MedGen UID: 1623132).
The ISCA2 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome (MMDS) (MedGen UID: 833907).
The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532). The ISPD gene is also known as the CRPPA gene.
The ITGA3 gene is associated with autosomal recessive interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB) (MedGen UID: 766550).
The ITGA6 gene is associated with autosomal recessive epidermolysis bullosa with pyloric atresia (EB-PA) (MedGen UID: 384018).
The ITGA8 gene is associated with autosomal recessive renal hypodysplasia/aplasia (MedGen UID: 301437).
The ITGB4 gene is associated with autosomal recessive epidermolysis bullosa with or without pyloric atresia (MedGen UID: 82798, 384018). Additionally, the ITGB4 gene has preliminary evidence supporting a correlation with steroid resistant nephrotic syndrome (PMID: 25349199, 30712057) and autosomal dominant epidermolysis bullosa (PMID: 26817667).
The ITM2B gene is associated with autosomal dominant cerebral amyloid angiopathy (MedGen UID: 396208, 358054). Additionally, the ITM2B gene has preliminary evidence supporting a correlation with autosomal dominant retinal dystrophy (MedGen UID: 863583).
The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 452450).
The ITPR1 gene is associated with autosomal dominant spinocerebellar ataxia type 15 (SCA15) and spinocerebellar ataxia type 29 (SCA29) (MedGen UID: 338301, 350085). The ITPR1 gene is also associated with autosomal dominant and recessive Gillespie syndrome (GLSP) (MedGen UID: 96563).
The ITSN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (PMID: 29773874).
The IVD gene is associated with autosomal recessive isovaleric acidemia (MedGen UID: 82822).
The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434), tetralogy of Fallot (MedGen UID: 21498), and Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 32065591). Additionally, the JAG1 gene has preliminary evidence supporting a correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 31273345).
The JAM3 gene is associated with autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) (MedGen UID: 462350).
The JMJD1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Rett syndrome (PMID: 26181491), intellectual disability and autism spectrum disorder (PMID: 26181491, 28554332).
The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).
The KANK1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spastic quadriplegic cerebral palsy (MedGen UID: 442880) and intellectual disability with or without steroid resistant nephrotic syndrome (PMID: 26350204; 25961457).
The KANK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (MedGen UID: 1622427) and autosomal recessive keratoderma with woolly hair (MedGen UID: 863639).
The KANK4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (PMID: 25961457).
The KANSL1 gene is associated with autosomal dominant Koolen-de Vries syndrome (MedGen UID: 355853). In some individuals this gene is flanked by segmental duplications that overlap with KANSL1 exons 1-3 (PMID: 22751096).
The KARS gene is associated with autosomal recessive deafness (MedGen UID: 462701) and autosomal recessive syndromic deafness with mitochondrial features (PMID: 29615062). Additionally, the KARS gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (CMT) (PMID: 20920668).
The KAT6A gene is associated with an autosomal dominant intellectual disabilities syndrome (MedGen UID: 903767).
The KAT6B gene is associated with autosomal dominant genitopatellar syndrome (GPS) (MedGen UID: 381208) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (MedGen UID: 350209).
The KATNB1 gene is associated with autosomal recessive cortical malformations and microcephaly (MedGen UID: 863962).
The KCNA1 gene is associated with autosomal dominant episodic ataxia type 1 (EA1) (MedGen UID: 318554) and autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 10355668, 11026449, 30055040).
The KCNA2 gene is associated with autosomal dominant and recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 909501; PMID: 27457812) and autosomal dominant hereditary spastic paraplegia and ataxia (PMID: 27543892).
The KCNB1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863556).
The KCNC1 gene is associated with autosomal dominant progressive myoclonic epilepsy 7 (EPM7) (MedGen UID: 863857) and developmental and epileptic encephalopathy (PMID: 28145425, 31353855).
The KCNC3 gene is associated with autosomal dominant spinocerebellar ataxia 13 (SCA13) (MedGen UID: 344297).
The KCND2 gene is associated with early-onset global developmental delay and developmental and epileptic encephalopathy (PMID: 34245260, 35510384).
The KCNE1 gene is associated with autosomal dominant long QT syndrome (LQTS), type 5 (MedGen UID: 358092) and autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS) (MedGen UID: 394108).
The KCNH1 gene is associated with autosomal dominant Zimmermann-Laband syndrome (ZLS) (MedGen UID: 1639277) and Temple-Baraitser syndrome (TMBTS) (MedGen UID: 395636).
The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293) and short QT syndrome (SQTS) (MedGen UID: 355891). Additionally, the KCNH2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24400717).
The KCNH5 gene is associated with autosomal dominant developmental and epileptic encephalopathy (PMID: 23647072, 24133262).
The KCNJ1 gene is associated with autosomal recessive Bartter syndrome type 2 (BSII) (MedGen UID: 343428).
The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).
The KCNJ13 gene is associated with autosomal dominant snowflake vitreoretinal degeneration (MedGen UID: 395476) and autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 481692).
The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586) and short QT syndrome (SQTS) (MedGen UID: 400662).
The KCNJ5 gene is associated with autosomal dominant familial hyperaldosteronism, type 3 (MedGen UID: 462283). Additionally, the KCNJ5 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 13 (MedGen UID: 462083).
The KCNJ6 gene is associated with autosomal dominant Keppen-Lubinsky syndrome (MedGen UID: 481430).
The KCNK4 gene is associated with an autosomal dominant neurodevelopmental syndrome (MedGen UID: 941316).
The KCNMA1 gene is associated with autosomal dominant generalized epilepsy and paroxysmal dyskinesia (GEPD) (MedGen UID: 332144) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 29545233, 27567911).
The KCNQ1 gene is associated with autosomal dominant long QT syndrome (LQTS), type 1 (MedGen UID: 19831), atrial fibrillation (MedGen UID: 373232), short QT syndrome (SQTS) (MedGen UID: 355890) and autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS) (MedGen UID: 5929).
The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462336).
The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707), and autosomal dominant and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 29383681, 23020937, 2393411).
The KCNQ4 gene is associated with autosomal dominant and autosomal recessive nonsyndromic deafness (MedGen UID: 436997; PMID: 26036578, 31028865).
The KCNQ5 gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 1618560).
The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 767109).
The KCNV2 gene is associated with autosomal recessive retinal cone dystrophy (RCD) (MedGen UID: 332081).
The KCTD1 gene is associated with autosomal dominant scalp-ear-nipple (SEN) syndrome (MedGen UID: 357183).
The KCTD17 gene is associated with autosomal dominant myoclonic dystonia 26 (DYT26) (MedGen UID: 904244).
The KCTD7 gene is associated with autosomal recessive progressive myoclonic epilepsy with or without intracellular inclusions (EPM3), also known as neuronal ceroid lipofuscinosis type 14 (CLN14) (MedGen UID: 388595).
The KDF1 gene is associated with autosomal dominant ectodermal dysplasia type 12 (MedGen UID: 934583). Additionally, the KDF1 gene has preliminary evidence supporting a correlation with autosomal dominant isolated tooth agenesis (PMID: 30384154, 35641834).
The KDM1A gene is associated with an autosomal dominant neurodevelopmental condition (MedGen UID: 895943).
The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139).
The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 477126).
The KDSR gene is associated with autosomal recessive progressive symmetric erythrokeratoderma (MedGen UID: 1372799).
The KERA gene is associated with autosomal recessive cornea plana 2 (CNA2) (MedGen UID: 346616).
The KIAA0556 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900415).
The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) (MedGen UID: 901479).
The KIAA0753 gene is associated with a spectrum of autosomal recessive skeletal ciliopathies (PMID: 29138412).
The KIAA1161 gene (also known as MYORG) is associated with autosomal recessive primary basal ganglia calcification 7 (BGC7) (MedGen UID: 941234).
The KIAA1549 gene is associated with autosomal recessive retinitis pigmentosa (RP) (PMID: 23105016, 30120214, 28512305).
The KIDINS220 gene is associated with autosomal dominant spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) (MedGen UID: 924883). The KIDINS220 gene is also associated with an autosomal recessive congenital contracture syndrome (PMID: 28934391).
The KIF11 gene is associated with autosomal dominant microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLID) (MedGen UID: 320559).
The KIF14 gene is associated with autosomal recessive ciliopathy-like syndrome (PMID: 30388224) and autosomal recessive microcephaly (MedGen UID: 1641618).
The KIF1A gene is associated with a spectrum of disorders including autosomal dominant and recessive hereditary spastic paraplegia 30 (SPG30) (MedGen UID: 1710020), autosomal dominant complicated spastic paraplegia and intellectual disability 9 (ID9) (MedGen UID: 1714250), and autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798).
The KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 24694336), neuroblastoma (PMID: 18614535, 18334619, 24469107), and Charcot-Marie-Tooth disease (CMT) (PMID: 30373780).
The KIF1BP gene is associated with autosomal recessive Goldberg-Shprintzen syndrome (MedGen UID: 332131).
The KIF1C gene is associated with autosomal recessive spastic ataxia type 2 (SPAX2) (MedGen UID: 370750).
The KIF22 gene is associated with autosomal dominant spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) (MedGen UID: 350960).
The KIF2A gene is associated with autosomal dominant cortical malformations (MedGen UID: 815744).
The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003), Charcot-Marie-Tooth disease type 2 (CMT2) (MedGen UID: 1633598), amyotrophic lateral sclerosis 25 (ALS25) (MedGen UID: 1633917), and intractable neonatal myoclonus (NEIMY) (MedGen UID: 934625).
The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome (MedGen UID: 162915).
The KISS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 762090).
The KISS1R gene is associated with autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766755).
The KIT gene is associated with autosomal dominant piebaldism (MedGen UID: 36361), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and familial mastocytosis (MedGen UID: 9902).
The KITLG gene is associated with autosomal dominant familial progressive hyperpigmentation with or without hypopigmentation (FPHH) (MedGen UID: 333550) and non-syndromic unilateral and asymmetric deafness (MedGen UID: 905882). Additionally, the KITLG gene has preliminary evidence supporting a correlation with autosomal dominant Waardenburg syndrome type 2 (PMID: 26522471) and autosomal recessive Waardenburg syndrome type 2 (PMID: 28504826).
The KIZ gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 862749).
The KL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive tumoral calcinosis (PMID: 17710231) and autosomal dominant differences in sex development (PMID: 28446957).
The KLB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (PMID: 28754744).
The KLHL24 gene is associated with autosomal dominant epidermolysis bullosa simplex (MedGen UID: 934598) and autosomal recessive hypertrophic cardiomyopathy (MedGen UID: 1824081).
The KLHL3 gene is associated with autosomal dominant and recessive pseudohypoaldosteronism type 2D (PHA2D) (MedGen UID:Ā 483335).
The KLHL7 gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 442864), autosomal recessive PERCHING syndrome (MedGen UID: 934709) and autosomal recessive Bohring-Opitz-like syndrome (PMID: 29074562, 31953236).
The KMT2A gene is associated with autosomal dominant Wiedemann-Steiner syndrome (WDSTS) (MedGen UID: 340266) (PMID: 28120103, 31337854, 35328068). There is preliminary evidence supporting a correlation with autosomal dominant Cornelia de Lange syndrome, due to the overlap in clinical presentation to WDSTS (PMID: 25574841, 31157197). In addition, there is preliminary evidence supporting a correlation with autosomal dominant lymphoma (PMID: 23457195) and leukemia (PMID: 31102422).
The KMT2B gene is associated with autosomal dominant childhood-onset dystonia (DYT28) (MedGen UID: 934600). Additionally, the KMT2B gene has preliminary evidence supporting a correlation with intellectual disability (PMID: 25405613).
The KMT2C gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 162390). Additionally, the KMT2C gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 29555671).
The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 893727) and a multiple malformations disorder (PMID: 31949313). Additionally, the KMT2D gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (MedGen UID: 57501) and with autosomal dominant holoprosencephaly (PMID: 31282990).
The KMT2E gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 1677602).
The KPNA7 gene is associated with autosomal recessive infantile spasms, intractable epilepsy & cerebellar malformation (PMID: 24045845).
The KPTN gene is associated with autosomal recessive intellectual disability 41 (IDT41) (MedGen UID: 816555).
The KRAS gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 349931), cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501102), Costello syndrome (PMID: 17056636, 17468812), and mosaic RASopathy syndromes including oculoectodermal syndrome (OES), encephaloācranioācutaneous lipomatosis (ECCL), and Schimmelpenningā FeuersteināMims syndrome (SFMS) (PMID: 25808193, 30891959).
The KREMEN1 gene is associated with autosomal recessive ectodermal dysplasia (MedGen UID: 1387448).
The KRIT1 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 237128).
The KRT1 gene is associated with autosomal dominant epidermolytic ichthyosis (MedGen UID: 334410).
The KRT10 gene is associated with autosomal dominant and autosomal recessive epidermolytic ichthyosis (MedGen UID: 38179).
The KRT12 gene is associated with autosomal dominant Meesmann corneal dystrophy (MECD) (MedGen UID: 946312).
The KRT14 gene is associated with autosomal dominant and recessive epidermolysis bullosa simplex (MedGen UID: 87016 and 811576) and autosomal dominant Naegeli-Franceschetti-Jadassohn syndrome (MedGen UID: 91010).
The KRT16 gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 353335).
The KRT17 gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 314107) and autosomal dominant steatocystoma multiplex (MedGen UID: 75476).
The KRT2 gene is associated with autosomal dominant ichthyosis bullosa of Siemens (MedGen UID: 98153).
The KRT25 gene is associated with autosomal recessive hypotrichosis and woolly hair (MedGen UID: 902275).
The KRT3 gene is associated with autosomal dominant Meesmann corneal dystrophy (MECD) (MedGen UID: 618767).
The KRT5 gene is associated with autosomal dominant and recessive epidermolysis bullosa simplex (MedGen UID: 140934 and 811576) and autosomal dominant Dowling-Degos disease (MedGen UID: 1645697).
The KRT6A gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 811523).
The KRT6B gene is associated with autosomal dominant pachyonychia congenita (MedGen UID: 811524).
The KRT6C gene is associated with autosomal dominant pachyonychia congenita (PMID: 31823354) and focal palmoplantar keratoderma (MedGen UID: 816724).
The KRT71 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Hypotrichosis and woolly hair (MedGen UID: 863053).
The KRT74 gene is associated with autosomal dominant woolly hair (MedGen UID: 348571) and hypotrichosis (PMID: 21188418).
The KRT83 gene is associated with autosomal dominant monilethrix, also known as beaded hair (MedGen UID: 108185).
The KRT85 gene is associated with autosomal recessive hair and nail ectodermal dysplasia (MedGen UID: 400883).
The KRT9 gene is associated with autosomal dominant epidermolytic palmoplantar keratoderma (MedGen UID: 354561).
The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 468441), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). Other L1CAM-related conditions have been reported (OMIM: 308840).
The L2HGDH gene is associated with autosomal recessive L-2-hydroxyglutaric aciduria (L2HGA) (MedGen UID: 341029).
The LAGE3 gene is associated with X-linked recessive Galloway-Mowat syndrome (MedGen UID: 1625619).
The LAMA1 gene is associated with autosomal recessive Poretti-Boltshauser syndrome (PTBHS) (MedGen UID: 863258). This condition is also known as cerebellar dysplasia with cysts.
The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).
The LAMA3 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 36328) and laryngoonychocutaneous syndrome (LOC) (MedGen UID: 272227), and autosomal dominant amelogenesis imperfecta (PMID: 22434185, 27827380).
The LAMA5 gene is associated with autosomal recessive nephrotic syndrome (PMID: 29534211). Additionally, the LAMA5 gene has preliminary evidence supporting a correlation with autosomal dominant LAMA5-related multisystemic syndrome (MedGen UID: 941785).
The LAMB1 gene is associated with autosomal recessive cortical malformations (MedGen UID: 767571).
The LAMB2 gene is associated with autosomal recessive nephrotic syndrome, type 5 (NPHS5) with or without ocular abnormalities (MedGen UID: 481743), and Pierson syndrome (MedGen UID: 373199). Additionally, the LAMB2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (PMID: 19251977).
The LAMB3 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 36328) and autosomal dominant amelogenesis imperfecta (MedGen UID: 859840).
The LAMC2 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 36328).
The LAMC3 gene is associated with autosomal recessive occipital cortical malformations (MedGen UID: 481505).
The LARGE1 gene (formerly known as LARGE) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).
The LARP7 gene is associated with autosomal recessive Alazami syndrome (MedGen UID: 767353).
The LARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 815435) and hydrops, lactic acidosis, and sideroblastic anemia (HLASA) (MedGen UID: 934728).
The LBR gene is associated with autosomal dominant Pelger-Huet anomaly (MedGen UID: 10617), and autosomal recessive Greenberg dysplasia (MedGen UID: 418969) and Pelger-Huet anomaly with mild skeletal anomalies (MedGen UID: 1648288).
The LCA5 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 388031).
The LCAT gene is associated with autosomal recessive lecithin-cholesterol acyltransferase (LCAT) deficiency (MedGen UID: 1435006), Norum disease (MedGen UID: 9698), and Fish-eye disease (MedGen UID: 83354).
The LDHA gene is associated with autosomal recessive lactate dehydrogenase A (LDHA) deficiency (MedGen UID: 416688).
The LEFTY2 gene is associated with autosomal dominant left-right axis malformations (also called LEFTY2-related heterotaxy; MedGen UID: 355624).
The LEMD2 gene is associated with autosomal dominant nuclear envelopathy with early progeroid appearance (PMID: 30905398). Additionally, the LEMD2 gene currently has preliminary evidence supporting a correlation with autosomal recessive juvenile-onset cataracts (MedGen UID: 444142; PMID: 26788539, 31061923).
The LEMD3 gene is associated with autosomal dominant Buschke-Ollendorff syndrome (BOS) (MedGen UID: 120545) and osteopoikilosis (MedGen UID: 120545).
The LEP gene is associated with autosomal recessive leptin dysfunction (MedGen: 767138).
The LEPR gene is associated with autosomal recessive leptin receptor deficiency (MedGen UID: 767139).
The LETM1 gene is associated with autosomal recessive mitochondrial encephalomyopathy (PMID: 36055214).
The LFNG gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 377871).
The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326).
The LHB gene is associated with autosomal recessive hypogonadotropic hypogonadism (HH) due to isolated luteinizing hormone (LH) deficiency (MedGen UID: 82881).
The LHCGR gene is associated with autosomal recessive Leydig cell hypoplasia (LCH) (MedGen UID: 120576) and autosomal dominant precocious puberty (MedGen UID: 87444).
The LHFPL5 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 343997).
The LHX3 gene is associated with autosomal recessive combined pituitary hormone deficiency (CPHD) (MedGen UID: 341749).
The LHX4 gene is associated with autosomal dominant combined pituitary hormone deficiency (MedGen UID: 394816).
The LIAS gene is associated with autosomal recessive hyperglycinemia, lactic acidosis, and seizures (HGCLAS), also known as pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) (MedGen UID: 482517).
The LIFR gene is associated with autosomal recessive Stuve-Wiedemann syndrome (SWS) (MedGen UID: 167109). Additionally, the LIFR gene has preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 28334964).
The LIG4 gene is associated with autosomal recessive LIG4 syndrome (MedGen UID: 339855).
The LIM2 gene is associated with autosomal recessive and autosomal dominant congenital cataracts (MedGen UID: 815334, PMID: 32202185, 33078099).
The LIPH gene is associated with autosomal recessive hypotrichosis (MedGen UID: 322969).
The LIPN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital ichthyosis (PMID: 21439540).
The LIPT1 gene is associated with autosomal recessive lipoyltransferase 1 deficiency (MedGen UID: 904073).
The LIPT2 gene is associated with autosomal recessive neonatal encephalopathy with lactic acidosis and brain anomalies (NELABA) (MedGen UID: 1624694).
The LMBR1 gene, also known as ZRS, is associated with autosomal recessive acheiropodia (MedGen UID: 120547) and autosomal dominant polydactyly (MedGen UID: 357423).
The LMBRD1 gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria, due to cobalamin F deficiency (MedGen UID: 336373).
The LMNA gene is associated with a spectrum of distinct and overlapping conditions collectively termed the laminopathies. Laminopathies which primarily affect the striated muscles include autosomal dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2), sometimes referred to as limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 98048), congenital muscular dystrophy (CMD) (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500), along with autosomal recessive Emery-Dreifuss muscular dystrophy type 3 (EDMD3) (MedGen UID: 413212). Laminopathies which primarily affect the peripheral nervous system include autosomal dominant (PMID: 14985400) and recessive Charcot-Marie-Tooth disease (MedGen UID: 343064). Syndromic laminopathies affecting multiple systems include autosomal dominant and recessive lipodystrophy (MedGen UID: 354526, 1684630), Hutchinson-Gilford progeria syndrome (HGPS) (MedGen UID: 46123), and heart-hand syndrome, Slovenian type (MedGen UID: 341859). Other conditions have also been reported (OMIM: 150330).
The LMNB1 gene is associated with autosomal dominant syndromic microcephaly (PMID: 32910914) and duplication of the entire LMNB1 gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD) (MedGen UID: 356995).
The LMNB2 gene is associated with autosomal dominant primary microcephaly (MedGen UID: 1783457) PMID: 33033404) and autosomal recessive progressive myoclonic epilepsy 9 (PME9) (MedGen UID: 901242). Additionally, there is evidence suggesting LMNB2 is associated with autosomal dominant acquired partial lipodystrophy (APL) (MedGen UID: 66352).
The LMX1B gene is associated with autosomal dominant nail-patella syndrome (NPS) (MedGen UID: 10257) and focal segmental glomerulosclerosis (FSGS)(PMID: 23687361, 26560070).
The LONP1 gene is associated with autosomal dominant congenital diaphragmatic hernia (PMID: 34547244) and autosomal recessive cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome (MedGen UID: 333031). Additionally, the LONP1 gene has preliminary evidence supporting a correlation with autosomal dominant mitochondrial encephalopathy (PMID: 31923470).
The LOR gene is associated with autosomal dominant Vohwinkel syndrome with ichthyosis (MedGen UID: 395099).
The LOX gene is associated with autosomal dominant thoracic aortic aneurysm and aortic dissection (TAAD) (MedGen UID: 924785). Additionally, the LOX gene has preliminary evidence supporting a correlation with autosomal recessive cutis laxa (PMID: 33866545).
The LOXHD1 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 412541). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant Fuchs corneal dystrophy (FCD) (PMID: 22341973).
The LOXL3 gene is associated with autosomal recessive Stickler syndrome (PMID: 25663169). Additionally, the LOXL3 gene has preliminary evidence supporting a correlation with early-onset high myopia (PMID: 26957899).
The LPAR6 gene is associated with autosomal recessive woolly hair (PMID: 18297072) and hypotrichosis (MedGen UID: 481100).
The LPIN1 gene is associated with autosomal recessive acute recurrent myoglobinuria (MedGen UID: 340308). There is preliminary evidence suggesting heterozygous carriers may have mild muscular symptoms (PMID: 22481384, 18817903).
The LRAT gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 442375), and early-onset retinitis pigmentosa (RP) (MedGen UID: 442376).
The LRIT3 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 767313).
The LRP2 gene is associated with autosomal recessive Donnai-Barrow syndrome (DBS) (MedGen UID: 347406).
The LRP4 gene is associated with autosomal recessive Cenani-Lenz syndactyly syndrome (CLSS) (MedGen UID: 395226) and sclerosteosis 2 (SOST2) (MedGen UID: 482032). Additionally, the LRP4 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 17 (CMS17) (MedGen UID: 895078).
The LRP5 gene is associated with autosomal dominant osteopetrosis (MedGen UID: 335932), autosomal dominant polycystic liver disease (MedGen UID: 165781), autosomal recessive osteoporosis with pseudoglioma (OPPG) (MedGen UID: 98480), and autosomal dominant and recessive exudative vitreoretinopathy (FEVR) (MedGen UID: 356171).
The LRP6 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 899184). Additionally, the LRP6 gene has preliminary evidence supporting a correlation with autosomal dominant coronary artery disease (MedGen UID: 370259).
The LRPPRC gene is associated with autosomal recessive mitochondrial complex IV deficiency, also referred to as French Canadian type Leigh syndrome (LSFC) (MedGen UID: 387801).
The LRRC56 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648363).
The LRRC6 gene is associated with autosomal recessive primary ciliary dyskinesia 19 (PCD19) (MedGen UID: 762332).
The LRRCC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 27894351).
The LRRK1 gene is associated with autosomal recessive osteosclerotic metaphyseal dysplasia (PMID: 27829680).
The LRTOMT gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 409872).
The LSS gene is associated with autosomal recessive syndromic intellectual disability with congenital alopecia or hypotrichosis (MedGen UID: 1648477). Additionally, the LSS gene has preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 26200341, 29016354).
The LTBP2 gene is associated with autosomal recessive primary congenital glaucoma (PCG) (MedGen UID: 416524), and microspherophakia (MedGen UID: 761238). Additionally, the LTBP2 gene has preliminary evidence supporting a correlation with autosomal recessive Weill-Marchesani syndrome (WMS) type 3 (MedGen UID: 766699), autosomal recessive Marfan-like syndrome (PMID: 22539340), and autosomal recessive alveolar capillary dysplasia without misalignment of pulmonary veins (PMID: 33766794).
The LTBP3 gene is associated with autosomal dominant geleophysic dysplasia (MedGen UID: 1615724) and autosomal recessive dental anomalies and short stature (MedGen UID: 318659). There is preliminary evidence for supporting a correlation with autosomal dominant thoracic aortic aneurysm and dissection (TAAD) (PMID: 29625025).
The LTBP4 gene is associated with autosomal recessive cutis laxa type 1C (MedGen UID: 442566).
The LYRM7 gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) (MedGen UID: 862877).
The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (CHS) (MedGen UID: 3347).
The LYZ gene is associated with autosomal dominant familial visceral amyloidosis (MedGen UID: 82799).
The LZTFL1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 811538).
The LZTR1 gene is associated with autosomal dominant LZTR1-related schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan spectrum disorders (NSDs) (MedGen UID: 902892, MedGen UID: 344290).
The LZTS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypermobile Ehlers-Danlos syndrome (hEDS) (PMID: 26504261).
The MAB21L2 gene is associated with autosomal dominant syndromic microphthalmia/coloboma and skeletal dysplasia syndrome (MedGen UID: 862977).
The MACF1 gene is associated with autosomal dominant lissencephaly with complex brainstem malformation (MedGen UID: 941245).
The MAF gene is associated with autosomal dominant Ayme-Gripp syndrome (MedGen UID: 371416).
The MAFB gene is associated with autosomal dominant multicentric carpotarsal osteolysis syndrome (MCTO) (MedGen UID: 436237) and autosomal dominant Duane retraction syndrome with or without deafness (DURS) (MedGen UID: 891561).
The MAG gene is associated with autosomal recessive spastic paraplegia 75 (SPG75) (MedGen UID: 896387).
The MAGED2 gene is associated with X-linked transient antenatal Bartterās syndrome (MedGen UID: 934787).
The MAGEL2 gene is associated with autosomal dominant Schaaf-Yang syndrome (MedGen UID: 816207).
The MAGI2 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 1620414).
The MAK gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 481672).
The MAMLD1 gene is associated with X-linked hypospadias (MedGen UID: 437064) and 46,XY disorders of sex development (PMID: 22479329, 27899157).
The MAN1B1 gene is associated with the autosomal recessive MAN1B1-congenital disorder of glycosylation (MAN1B1-CDG) (MedGen UID: 830900).
The MAN2B1 gene is associated with autosomal recessive alpha-mannosidosis (MedGen UID: 7467).
The MANBA gene is associated with autosomal recessive beta-mannosidosis (MedGen UID: 888408).
The MAOA gene is associated X-linked recessive Brunner syndrome (MedGen UID: 208683).
The MAP2K1 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815336).
The MAP2K2 gene is associated with autosomal dominant cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815337), which is one of the RASopathies (MedGen UID: 1792298).
The MAP3K1 gene is associated with autosomal dominant 46,XY disorder of sex development (DSD) (MedGen UID: 462414).
The MAP3K20 gene is associated with autosomal recessive centronuclear myopathy 6 with fiber-type disproportion (CNM6) (MedGen UID: 1627492). Additionally, the MAP3K20 gene has preliminary evidence supporting a correlation with autosomal recessive split-foot malformation syndrome (MedGen UID: 898233).
The MAP3K7 gene is associated with autosomal dominant cardiospondylocarpofacial syndrome (CSCFS) (MedGen UID: 444060) and frontometaphyseal dysplasia (FMD) (MedGen UID: 934664).
The MAPKAPK3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant macular dystrophy (PMID: 26744326).
The MAPKBP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 934607).
The MAPT gene is associated with a spectrum of related autosomal dominant neurodegenerative conditions including frontotemporal dementia (FTD) (MedGen UID: 83266), Pick disease (MedGen UID: 116020), and progressive supranuclear palsy 1 (PSNP1) (MedGen UID: 1640811), collectively known as MAPT-related spectrum disorders (MedGen UID: 893467). Additionally, the MAPT gene has preliminary evidence supporting a correlation with susceptibility to late-onset Parkinson disease (MedGen UID: 463618) and with autosomal recessive Parkinson-dementia syndrome (MedGen UID: 342410).
The MARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) (MedGen UID: 906504) and autosomal recessive interstitial lung and liver disease (ILLD) (MedGen UID: 815981). Additionally, the MARS gene has preliminary evidence supporting a correlation with autosomal recessive nonphotosensitive trichothiodystrophy 9 (MedGen UID: 990738) and apastic paraplegia 70 (MedGen UID: 1008527).
The MARS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 25 (MedGen UID: 896555) and spastic ataxia 3 (MedGen UID: 370715).
The MARVELD2 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 346670).
The MASP1 gene is associated with autosomal recessive 3MC syndrome 1 (3MC1) (MedGen UID: 167100).
The MAST1 gene is associated with autosomal dominant mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MedGen UID: 1648439, PMID: 30449657).
The MAT1A gene is associated with autosomal dominant and autosomal recessive hypermethioninemia (MedGen UID: 75700).
The MAT2A gene is associated with autosomal dominant nonsyndromic thoracic aortic aneurysms (PMID: 25557781, 33824467).
The MATN3 gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 335542). Additionally, the MATN3 gene has preliminary evidence supporting a correlation with autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) (PMID: 15121775).
The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 313270). Additionally, the MAX gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 28973655) and pituitary adenomas (PMID: 32201880, 33367756, 34135865).
The MBD5 gene is associated with autosomal dominant intellectual disability (MedGen UID: 409857). Additionally, the MBD5 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 23632792, 23055267).
The MBTPS1 gene is associated with autosomal recessive spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) (MedGen UID: 1683128). Additionally, the MBTPS1 gene has preliminary evidence supporting a correlation with autosomal dominant elevated creatine kinase with myoedema (PMID: 31070020).
The MBTPS2 gene is associated with X-linked ichthyosis follicularis with atrichia and photophobia (MedGen UID: 327007) and osteogenesis imperfecta (MedGen UID: 1648353).
The MCCC1 gene is associated with autosomal recessive 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (MedGen UID: 468532).
The MCCC2 gene is associated with autosomal recessive 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (MedGen UID: 347898).
The MCEE gene is associated with autosomal recessive methylmalonyl-CoA epimerase deficiency (MedGen UID: 344419).
The MCIDAS gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 946079).
The MCM2 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 934742).
The MCM5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Meier-Gorlin syndrome (MedGen UID: 1390366)
The MCOLN1 gene is associated with autosomal recessive mucolipidosis type IV (ML IV) (MedGen UID: 68663).
The MCPH1 gene is associated with autosomal recessive primary microcephaly (MedGen UID: 344415).
The MDH2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1372686). Additionally, the MDH2 gene has preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 30008476), and autosomal dominant hyperglycemia (PMID 34718610).
The MECP2 gene is associated with X-linked Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked MECP2 duplication syndrome (MedGen: 337496), a contiguous gene duplication involving MECP2 as well as other neighboring genes within Xq28.
The MECR gene is associated with autosomal recessive childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DYTOABG) (MedGen UID: 934601).
The MED12 gene is associated with X-linked dominant Hardikar syndrome (PMID: 33244166) and neurodevelopmental disorder (PMID: 33244165) and X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805), and syndromic intellectual disability (ID) (PMID: 30006928).
The MED13L gene is associated with autosomal dominant intellectual disabilities and facial dysmorphism with or without cardiac defects (MedGen UID: 900924). Additionally, the MED13L gene has preliminary evidence supporting a correlation with heterotaxy (PMID: 27959697, 14638541).
The MED17 gene is associated with autosomal recessive postnatal progressive microcephaly with seizures and brain atrophy (MedGen UID: 462271).
The MED25 gene is associated with autosomal recessive Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) (MedGen UID: 897292). Additionally, the MED25 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID: 381352).
The MEF2C gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 462050). Additionally, the MEF2C gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 22498567, 29104469).
The MEFV gene is associated with autosomal recessive familial Mediterranean fever (FMF) (MedGen UID: 45811). Single pathogenic variants may contribute to risk for recurrent fevers (MedGen UID: 341987, PMID: 23844200).
The MEGF8 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 767161).
The MEIS2 gene is associated with an autosomal dominant condition causing facial clefting, cardiac septal defects, and varying degrees of intellectual disability (PMID: 24678003, 20425846, 25712757).
The MEN1 gene is associated with autosomal dominant multiple endocrine neoplasia type 1 (MedGen UID: 9957) and familial isolated hyperparathyroidism (FIHP) (OMIM: 145000). Additionally, the MEN1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to thyroid cancer (PMID: 30608029), and paraganglioma-pheochromocytoma syndrome (PGL-PCC) (PMID: 22723327, 27572829, 32130200).
The MEOX1 gene is associated with autosomal recessive Klippel-Feil syndrome (MedGen UID: 395201).
The MERTK gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462578). Additionally, the MERTK gene has preliminary evidence supporting a correlation with autosomal dominant pheochromocytoma (PMID: 26700204).
The MESDC2 gene (also known as MESD) is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 1684751).
The MESP2 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 332481).
The MET gene is associated with autosomal dominant predisposition to hereditary papillary renal cell carcinoma (HPRCC) (MedGen UID: 766), and autosomal recessive nonsyndromic deafness (MedGen UID: 899875). Additionally, the MET gene has preliminary evidence supporting a correlation with autosomal dominant arthrogryposis of the upper limbs (PMID: 30777867).
The MFAP5 gene is associated with autosomal dominantĀ thoracic aortic aneurysms and dissection (TAAD) (MedGen UID: 863805).
The MFN2 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2A (CMT2A) (MedGen UID: 1648317, 934692), also known as hereditary motor and sensory neuropathy with optic atrophy (HMSN6A) (MedGen UID: 140747).
The MFRP gene is associated with autosomal recessive posterior microphthalmos/nanophthalmos and retinal dystrophy (PMID: 22605927, 17167404, 19753314, 18554571).
The MFSD2A gene is associated with autosomal recessive primary microcephaly (MedGen UID: 895496).
The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457) and retinal dystrophy (MedGen UID: 863808). In addition, the MFSD8 gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (ALS) (PMID: 33226711).
The MGP gene is associated with autosomal recessive Keutel syndrome (KTLS) (MedGen UID: 383722).
The MICAL1 gene is associated with autosomal dominant familial temporal lobe epilepsy (ETL1) (MedGen UID: 1643229). Additionally, the MICAL1 gene currently has preliminary evidence supporting a correlation with autosomal dominant Charcot-Marie-Tooth disease (PMID: 26752306).
The MICU1 gene is associated with autosomal recessive myopathy with extrapyramidal signs (MPXPS) (MedGen UID: 816615).
The MID1 gene is associated with X-linked recessive Opitz GBBB syndrome (MedGen UID: 424842).
The MIP gene is associated with autosomal dominant congenital cataracts (MedGen UID: 815331).
The MIR184 gene is associated with autosomal dominant endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MedGen UID: 482022).
The MIR204 gene is associated with autosomal dominant familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (MedGen UID: 904740)
The MIR96 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 854780).
The MITF gene is associated with autosomal dominant Waardenburg syndrome, type 2a (MedGen UID: 349786), and autosomal recessive COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness) (MedGen UID: 934592). The c.952G>A (p.Glu318Lys) variant in MITF is associated with autosomal dominant predisposition to cutaneous malignant melanoma (MedGen UID: 463554).
The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and McKusick-Kaufman syndrome (MedGen UID: 184924).
The MKS1 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The MLC1 gene is associated with autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) (MedGen UID: 347006).
The MLH1 gene is associated with autosomal dominant Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The MLPH gene is associated with autosomal recessive Griscelli syndrome, type 3 (GS3) (MedGen UID: 373124).
The MLYCD gene is associated with autosomal recessive malonyl-CoA decarboxylase deficiency (MedGen UID: 91001).
The MMAA gene is associated with autosomal recessive cobalamin A type methylmalonic aciduria (MMACblA) (MedGen UID: 344422).
The MMAB gene is associated with autosomal recessive cobalamin B type methylmalonic aciduria (MedGen UID: 344420).
The MMACHC gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency (MedGen UID: 341256).
The MMADHC gene is associated with autosomal recessive cobalamin D (cbl D) deficiency (MedGen UID: 341253)
The MMP13 gene is associated with autosomal dominant and recessive metaphyseal anadysplasia (MAD), including spondyloepimetaphyseal dysplasia, Missouri type (SEMD) (MedGen UID: 355563), and autosomal recessive metaphyseal dysplasia, Spahr type (MDST) (MedGen UID: 140928).
The MMP14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Winchester syndrome (MedGen UID: 98152).
The MMP2 gene is associated with autosomal recessive multicentric osteolysis, nodulosis, and arthropathy (MedGen UID: 342428).
The MMP9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive metaphyseal anadysplasia (PMID: 19615667).
The MNX1 gene is associated with autosomal dominant Currarino syndrome (MedGen UID: 323460). Additionally, the MNX1 gene has preliminary evidence supporting a correlation with autosomal recessive neonatal diabetes mellitus (PMID: 24411943).
The MOCOS gene is associated with autosomal recessive xanthinuria (PMID: 17368066, 11302742, 25967871).
The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 381530).
The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760). Of note, the MOCS2 gene encodes two different proteins, MOCS2A and MOCS2B. Each protein is translated from alternate transcripts that have different open reading frames.
The MOCS3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with molybdenum cofactor deficiency (PMID: 30900395, 28544736).
MOGS is associated with autosomal recessive MOGS-congenital disorder of glycosylation (CDG-IIb) (MedGen UID 342954).
The MORC2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) (MedGen UID: 907298) and developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) (MedGen UID: 1765507)
The MPC1 gene is associated with autosomal recessive mitochondrial pyruvate carrier deficiency (MPYCD) (MedGen UID: 766521).
The MPDZ gene is associated with autosomal recessive congenital hydrocephalus (MedGen UID: 767605). Additionally, the MPDZ gene has preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 21862650).
The MPLKIP gene is associated with autosomal recessive non-photosensitive trichothiodystrophy (MedGen UID: 368381).
The MPV17 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome (MDS) (MedGen UID: 338045) and Charcot-Marie-Tooth disease type 2EE (CMT2EE) (MedGen UID: 1677426) .
The MPZ gene is associated with a spectrum of autosomal dominant peripheral neuropathies including Charcot-Marie-Tooth disease types 1B (CMT1B) (MedGen UID: 124377), 2I (CMT2I) (MedGen UID: 854756), 2J (CMT2J) (MedGen UID: 375107), dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD) (MedGen UID: 334318), and congenital hypomyelinating neuropathy 2 (CHN2) (MedGen UID: 1648446).
The MRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 943628), which is one of the RASopathies (MedGen UID: 1792298).
The MRE11 gene, formerly known as MRE11A, is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 861227). There is also limited evidence suggesting the MRE11 gene is associated with autosomal dominant predisposition to breast and gynecologic cancers (PMID: 14684699, 24894818, 24549055, 25452441); however, this has not been replicated in large meta-analyses (PMID: 33471991).
The MRPL12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with poor growth and neurodegeneration (PMID: 23603806).
The MRPL44 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 16 (COXPD16) (MedGen UID: 815669).
The MRPS16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 2 (COXPD2) (MedGen UID: 400626).
The MRPS22 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 5 (COXPD5) (MedGen UID: 435972).
The MRPS34 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 32 (COXPD32) (MedGen UID: 1617600).
The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The MSRB3 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID 453237).
The MSTO1 gene is associated with autosomal recessive mitochondrial myopathy and ataxia (MedGen UID: 1620960). Additionally, the MSTO1 gene has preliminary evidence supporting a correlation with autosomal dominant mitochondrial myopathy and ataxia (MedGen UID: 1620960).
The MSX1 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794). Additionally, the MSX1 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting and ectodermal dysplasia affecting the teeth and nails, also known as Witkop syndrome (PMID: 11369996).
The MSX2 gene is associated with autosomal dominant parietal foramina (MedGen UID: 358250) and craniosynostosis (MedGen UID: 346753). Additionally, the MSX2 gene has preliminary evidence supporting a correlation with autosomal dominant parietal foramina with cleidocranial dysplasia (MedGen UID: 401479).
The MTFMT gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 15 (MedGen UID: 767096).
The MTHFR gene is associated with autosomal recessive severe MTHFR deficiency (MedGen UID: 383829).
The MTHFS gene is associated with autosomal recessive 5,10-methenyltetrahydrofolate synthetase deficiency (MedGen UID: 1684142).
The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).
The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 10 (COXPD10) (MedGen UID: 766443).
The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689).
The MTPAP gene is associated with autosomal recessive spastic ataxia 4 (SPAX4) (MedGen UID: 462275).
The MTR gene is associated with autosomal recessive cobalamin G (cblG) deficiency (MedGen UID: 344426).
The MTRR gene is associated with autosomal recessive homocystinuria due to cobalamin E deficiency (MedGen UID: 344640).
The MTTP gene is associated with autosomal recessive abetalipoproteinemia (MedGen UID: 1253).
The MUT gene is associated with autosomal recessive methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency (MedGen UID: 344424). This gene is also known as MMUT.
The MVK gene is associated with autosomal recessive mevalonate kinase deficiency which encompasses hyper-IgD syndrome (MedGen UID: 140768) and autosomal recessive mevalonic aciduria (MedGen UID: 368373). In addition, the MVK gene is associated with autosomal dominant porokeratosis (MedGen UID: 401352).
The MYCN gene is associated with autosomal dominant Feingold syndrome (MedGen UID: 1637716). Additionally, the MYCN gene has preliminary evidence supporting a correlation with an autosomal dominant megalencephaly syndrome (PMID: 30573562).
The MYH11 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 338704) and autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) (PMID: 29575632). Additionally, the MYH11 gene has preliminary evidence supporting a correlation with autosomal dominant chronic intestinal pseudo-obstruction (CIPO) (PMID: 31944481).
The MYH14 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 322209) and autosomal dominant peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) (MedGen UID: 482186).
The MYH3 gene is associated with autosomal dominant distal arthrogryposis type 2A (DA2A) (MedGen UID: 120516), type 2B3 (DA2B3) (MedGen UID: 941429), and contractures, pterygia, and variable skeletal fusions syndrome 1A (CPSFS1A) (MedGen UID: 401232), and with autosomal recessive contractures, pterygia, and spondylocarpotarsal fusion syndrome (PMID: 29805041, 30008475).
The MYH6 gene is associated with autosomal dominant atrial septal defects (MedGen UID: 481420). There is also preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484) and dilated cardiomyopathy (DCM) (MedGen UID: 412965) and autosomal recessive congenital heart defects (PMID: 28991257). Additional MYH6-related conditions have been reported (OMIM: 160710).
The MYH7B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25528277), congenital abnormalities of the kidney and urinary tract (CAKUT) (PMID: 30143558), and hypertrophic cardiomyopathy (PMID: 32207065).
The MYH9 gene is associated with autosomal dominant MYH9-related disorders (MYH9RD) (MedGen UID: 1704278) and nonsyndromic deafness (MedGen UID: 350942).
The MYLK gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 462427) and autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) (PMID: 28602422).
The MYO15A gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 325373)
The MYO18B gene is associated with autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism (KFS4) (MedGen UID: 894399).
The MYO1E gene is associated with autosomal recessive focal segmental glomerulosclerosis (FSGS) (MedGen UID: 481535).
The MYO3A gene is associated with autosomal dominant and autosomal recessive nonsyndromic deafness (MedGen UID: 335521; PMID: 32519820, 29880844).
The MYO5A gene is associated with autosomal recessive Griscelli syndrome, type 1 (GS1) (MedGen UID: 347092).
The MYO6 gene is associated with autosomal dominant and recessive nonsyndromic deafness (MedGen UID: 339981, 375076).
The MYO7A gene is associated with autosomal recessive Usher syndrome type 1 (MedGen UID: 292820), non-syndromic retinitis pigmentosa (PMID: 28559085, 21901789), and non-syndromic deafness (MedGen UID: 325485), as well as autosomal dominant non-syndromic deafness (MedGen UID: 331297).
The MYOC gene is associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 333974).
The NAA10 gene is associated with X-linked N-terminal acetyltransferase deficiency, also known as Ogden syndrome (MedGen UID: 477078). Additionally, the NAA10 gene has preliminary evidence supporting a correlation with X-linked Lenz microphthalmia syndrome (LMS) (MedGen UID: 162898; PMID: 24431331).
The NAA15 gene is associated with autosomal dominant intellectual disability (MedGen UID: 1616989).
The NAA35 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with cerebral palsy (PMID: 25666757).
The NACC1 gene is associated with autosomal dominant infantile epilepsy, cataracts, and developmental delay (MedGen UID: 1377894).
The NADK2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2,4-dienoyl-CoA reductase deficiency (DECRD) (PMID: 29388319, 2332510).
The NAGA gene is associated with autosomal recessive alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency, also known as Schindler disease (MedGen UID: 373113, 324539, 324546).
The NAGLU gene is associated with autosomal recessive mucopolysaccharidosis type IIIB (MPS IIIB) (MedGen UID: 88601). There is also preliminary evidence supporting a correlation with autosomal dominant axonal Charcot-Marie-Tooth disease type 2V (CMT2V) (PMID: 25818867).
The NAGS gene is associated with autosomal recessive N-acetylglutamate synthase (NAGS) deficiency (MedGen UID: 120649).
The NALCN gene is associated with autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delays (CLIFAHDD) (MedGen UID: 907234) and autosomal recessive infantile neuroaxonal dystrophy with facial dysmorphism (MedGen UID: 815784).
The NANS gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia, Genevieve type (MedGen UID: 355314).
The NARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 24 (COXPD24) (MedGen UID: 864080). Additionally, the NARS2 gene has preliminary evidence supporting a correlation with autosomal recessive deafness (MedGen UID: 1679077).
The NAXD gene is associated with autosomal recessive progressive encephalopathy with brain edema and leukoencephalopathy-2 (PEBEL2) (MedGen UID: 941239).
The NAXE gene is associated with autosomal recessive progressive, early-onset encephalopathy with brain edema and/or leukoencephalopathy 1 (PEBEL1) (MedGen UID: 934642).
The NBAS gene is associated with autosomal recessive infantile liver failure (MedGen UID: 815981) and autosomal recessive short stature with optic nerve atrophy and Pelger-Huƫt anomaly (SOPH) syndrome (MedGen UID: 762020).
The NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771). Additionally, the NBN gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to ovarian, endometrial, and prostate cancer (PMID: 26720728, 29988077, 30733081, 31406321).
The NDE1 gene is associated with autosomal recessive lissencephaly 4 (LIS4) (MedGen UID: 462811). Additionally, the NDE1 gene has preliminary evidence supporting a correlation with autosomal recessive microhydranencephaly (MHAC) (PMID: 22526350; MedGen UID: 341899).
The NDP gene is associated with X-linked exudative vitreoretinopathy 2 (EVR2) (MedGen UID: 337030) and Norrie disease (ND) (MedGen UID: 75615). Other NDP-related retinopathies have been reported (MedGen UID: 75615).
The NDRG1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4D (CMT4D) (MedGen UID: 371304).
The NDST1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 863720). Additionally, the NDST1 gene has preliminary evidence supporting a correlation with pulmonary arterial hypertension with congenital heart disease (PMID: 30029678).
The NDUFA1 gene is associated with X-linked recessive mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) (MedGen UID: 1648278).
The NDUFA10 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) (MedGen UID: 1648347).
The NDUFA11 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 14 (MC1DN14) (MedGen UID: 1648440).
The NDUFA12 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 23 (MC1DN23) (MedGen UID: 374101).
The NDUFA13 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) (MedGen UID: 1648493).
The NDUFA2 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 13 (MC1DN13) (MedGen UID: 1648370).
The NDUFA4 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex IV deficiency (PMID: 23746447).
The NDUFA6 gene is associated with autosomal recessive mitochondrial complex 1 deficiency, nuclear type 33 (MC1DN33) (MedGen UID: 1648420).
The NDUFA9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648283).
The NDUFAF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex I deficiency (PMID: 21931170, 17557076).
The NDUFAF2 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) (MedGen UID: 374101).
The NDUFAF3 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) (MedGen UID: 1648321).
The NDUFAF4 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) (MedGen UID: 374101).
The NDUFAF5 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) (MedGen UID: 374101).
The NDUFAF6 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) (MedGen UID: 374101).
The NDUFB10 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Complex I deficiency (PMID: 28040730).
The NDUFB11 gene is associated with X-linked recessive myopathy, lactic acidosis and sideroblastic anemia (MLASA) (PMID: 27488349), X-linked dominant histiocytoid cardiomyopathy (PMID: 25921236), and X-linked dominant microphthalmia with linear skin defects syndrome (MLS) (MedGen UID: 906997). Additionally, there is preliminary evidence supporting a correlation with X-linked lethal infantile mitochondrial disorder (LIMD) (MedGen UID: 1648313).
The NDUFB3 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) (MedGen UID: 374101).
The NDUFB8 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive mitochondrial complex 1 deficiency (PMID: 29429471, 27290639).
The NDUFB9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive mitochondrial complex I deficiency (PMID: 20818383, 22200994).
The NDUFS1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 5 (MC1ND5) (MedGen UID: 374101).
The NDUFS2 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) (MedGen UID: 1648496). Additionally, the NDUFS2 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic optic neuropathy (PMID: 28031252).
The NDUFS3 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) (MedGen UID: 1648411).
The NDUFS4 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) (MedGen UID: 374101).
The NDUFS6 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) (MedGen UID: 374101).
The NDUFS7 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 3 (MC1DN3) (MedGen UID: 374101).
The NDUFS8 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) (MedGen UID: 1648466).
The NDUFV1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) (MedGen UID: 374101).
The NDUFV2 gene is associated with autosomal recessive mitochondrial complex I deficiency, type 7 (MC1DN7) (MedGen UID: 374101).
The NECAP1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862867).
The NECTIN1 gene (also known as PVRL1) is associated with autosomal recessive cleft lip/palate-ectodermal dysplasia syndrome (MedGen UID: 444067).
The NECTIN4 gene is associated with autosomal recessive ectodermal dysplasia-syndactyly syndrome (MedGen UID: 462157).
The NEDD4L gene is associated with autosomal dominant periventricular nodular heterotopia (MedGen UID: 934636). Additionally, the NEDD4L gene has preliminary evidence supporting a correlation with autosomal dominant developmental and epileptic encephalopathy (PMID: 23934111).
The NEK1 gene is associated with autosomal dominant amyotrophic lateral sclerosis (MedGen UID: 1632999) and autosomal recessive short rib-polydactyly syndrome type 2 (SRP2), also known as Majewski syndrome (MedGen UID: 44252).
The NEK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 24043777).
The NEK8 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462538).
The NEU1 gene is associated with autosomal recessive sialidosis, types I and II (MedGen UID: 120622, 120621).
The NEUROD1 gene is associated with autosomal dominant maturity onset diabetes of the young type 6 (MODY6) (MedGen UID: 344030) and autosomal recessive permanent neonatal diabetes with neurological abnormalities (PMID: 20573748). Additionally, the NEUROD1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 25477324).
The KIAA2022 gene (also known as NEXMIF) is associated with X-linked intellectual disability 98 (IDX98) (MedGen UID: 813060).
The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089), and Watson syndrome (MedGen UID: 107817).
The NF2 gene is associated with autosomal dominant NF2-related schwannomatosis, previously known as neurofibromatosis type 2 (MedGen UID: 18014).
The NFE2L2 gene is associated with autosomal dominant immunodeficiency, developmental delay, and hypohomocysteinemia due to NFE2L2 gain-of-function (MedGen UID: 1616061).
The NFIA gene is associated with autosomal dominant brain malformations and urinary tract defects (MedGen UID: 1392440).
The NFIX gene is associated with autosomal dominant Malan syndrome (also known as Sotos syndrome 2) (MedGen UID: 766574) and Marshall-Smith syndrome (MedGen UID: 75551).
The NFKBIA gene is associated with autosomal dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID) (MedGen UID: 394295).
The NFU1 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 1 (MMDS1) (MedGen UID: 343044).
The NGLY1 gene is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).
The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631).
The NHP2 gene is associated with autosomal recessive NHP2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462791).
The NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).
The NIN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 28726809) and microcephalic primordial dwarfism (PMID: 22933543, 23665482 )
The NIPA1 gene is associated with autosomal dominant hereditary spastic paraplegia 6 (SPG6) (MedGen UID: 324965).
The NIPAL4 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 436851).
The NIPBL gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 1645760).
The NKX2-1 gene is associated with autosomal dominant choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, also known as brain-thyroid-lung syndrome (MedGen UID: 369694).
The NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). Additionally, the NKX2-5 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 23661673), atrial fibrillation (MedGen UID: 445), and congenital hypothyroidism (MedGen UID: 482425).
The NKX2-6 gene is associated with autosomal recessive conotruncal heart malformations (MedGen UID: 341803).
The NKX3-2 gene is associated with autosomal recessive spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) (MedGen UID: 412869).
The NKX6-2 gene is associated with autosomal recessive spastic ataxia with hypomyelinating leukodystrophy (SPAX8) (MedGen UID: 1382553).
The NLRP1 gene is associated with autosomal dominant and recessive autoinflammatory keratinization disease (Medgen UID: 815206, 1380109, 1719353).
The NLRP3 gene is associated with autosomal dominant cryopyrin-associated periodic syndrome (CAPS) (MedGen UID: 412215).
The NME8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive primary ciliary dyskinesia (MedGen UID: 370930).
The NMNAT1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 325277).
The NODAL gene is associated with autosomal dominant heterotaxy (MedGen UID: 501198). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149).
The NOG gene is associated with autosomal dominant NOG-related symphalangism spectrum disorder (NOG-SSD) (PMID: 21538686) and autosomal dominant fibrodysplasia ossificans progressiva (FOP) (PMID: 19400542, 16080294).
The NONO gene is associated with an X-linked intellectual disability syndrome (MedGen UID: 902184).
The NOP10 gene is associated with NOP10-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 341705).
The NOTCH1 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 863407), leukoencephalopathy with brain calcifications (PMID: 35947102), and isolated congenital heart defects with or without aortic valve disease (MedGen UID: 226776).
The NOTCH2 gene is associated with autosomal dominant Hajdu-Cheney syndrome (MedGen UID: 182961) and Alagille syndrome (ALGS) (MedGen UID: 341844).
The NOTCH3 gene is associated with autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL1) (MedGen UID: 1634330) and lateral meningocele syndrome (LMS) (MedGen UID: 342070). Additionally, the NOTCH3 gene has preliminary evidence supporting a correlation with autosomal dominant infantile myofibromatosis 2 (IMF2) (MedGen UID: 815414) and autosomal recessive Sneddon syndrome (PMID: 32980981, 25870235).
The NPC1 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID: 465922).
The NPC2 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID: 335942).
The NPHP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 343406). Additionally, the NPHP1 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27486776).
The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 811626).
The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).
The NPHS1 gene is associated with autosomal recessive nephrotic syndrome type 1 (MedGen UID: 98011).
The NPHS2 gene is associated with autosomal recessive nephrotic syndrome type 2 (MedGen UID: 1564531).
The NPPC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant short stature (PMID: 28661490).
The NPR2 gene is associated with autosomal recessive acromesomelic dysplasia, Maroteaux type (AMDM) (MedGen UID: 355199), autosomal dominant epiphyseal chondrodysplasia, Miura type (ECDM) (MedGen UID: 799380), and autosomal dominant short stature (MedGen UID: 906874).
The NPR3 gene is associated with autosomal recessive tall stature with arachnodactyly (PMID: 30032985).
The NPRL3 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 934675).
The NR0B1 gene is associated with X-linked congenital adrenal hypoplasia (MedGen UID: 87442) and disorders of sex development (MedGen UID: 341190).
The NR2E3 gene is associated with autosomal recessive enhanced S-cone syndrome (ESCS) (MedGen UID: 341446) and autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 410004). Additionally, the NR2E3 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 18294254, 27032803).
The NR2F1 gene is associated with autosomal dominant Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (MedGen UID: 816693).
The NR2F2 gene is associated with an autosomal dominant neurodevelopmental condition (PMID: 37500725) and autosomal dominant congenital heart defects (MedGen UID: 777001).
The NR3C2 gene is associated with autosomal dominant pseudohypoaldosteronism type 1 (MedGen UID: 260623). Additionally, the NR3C2 gene has preliminary evidence supporting a correlation with hypertension (PMID: 10884226).
The NR5A1 gene is associated with autosomal dominant disorders of sex development (MedGen UID: 483746, 1373282), and primary ovarian insufficiency (MedGen UID: 38820). Additionally, the NR5A1 gene has preliminary evidence supporting a correlation with autosomal dominant adrenocortical insufficiency (MedGen UID: 912698) and spermatogenic failure (MedGen UID: 140793).
The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028), which is one of the RASopathies (MedGen UID: 1792298).
The NRIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (PMID: 28381549).
The NRL gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 320323) and autosomal recessive clumped pigment type retinal degeneration (CPTRD) (PMID: 15591106, 11694879).
The NRXN1 gene is associated with autosomal recessive Pitt-Hopkins-like syndrome (MedGen UID: 482109) and variable autosomal dominant neurodevelopmental conditions (PMID: 23533028, 30031152). Additionally, the NRXN1 gene has preliminary evidence supporting a correlation with schizophrenia (PMID: 24126932, 21424692).
The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).
The NSDHL gene is associated with X-linked dominant CHILD syndrome (MedGen UID: 82697) and X-linked recessive CK syndrome (MedGen UID: 463131).
The NSMCE2 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 934614).
The NSMF gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766756).
The NSUN2 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 370849). Additionally, the NSUN2 gene has preliminary evidence supporting a correlation with autosomal recessive Noonan-like syndrome (PMID: 24102521, 26055038).
The NSUN3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined mitochondrial respiratory chain complex deficiency (PMID: 27356879).
The NT5C2 gene is associated with autosomal recessive hereditary spastic paraplegia 45 (SPG45) (MedGen UID: 854816).
The NTRK1 gene is associated with autosomal recessive congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type 4 (HSAN4) (MedGen UID: 6915). Additionally, the NTRK1 gene has preliminary evidence supporting a correlation with autosomal recessive osteogenesis imperfecta (PMID: 28116328).
The NTRK2 gene is associated with autosomal dominant obesity, hyperphagia, and developmental delay (OBHD) (MedGen UID: 462653) and early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1646861).
The NUBPL gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) (MedGen UID: 1648383).
The NUP107 gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1679283), autosomal recessive nephrotic syndrome (MedGen UID: 898622), and autosomal recessive ovarian dysgenesis (MedGen UID: 1648307).
The NUP133 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1675829) and autosomal recessive steroid resistant nephrotic syndrome (MedGen UID:Ā 1648464).
The NUP160 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 1648305).
The NUP205 gene is associated with autosomal recessive steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis (FSGS) (MedGen UID: 900240). Additionally, the NUP205 gene has preliminary evidence supporting a correlation with situs inversus totalis (PMID: 31306055).
The NUP62 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile bilateral striatonigral degeneration (MedGen UID: 167090).
The NUP85 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 1648294).
The NUP93 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 904365).
The NUS1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 29100083). Additionally, the NUS1 gene has preliminary evidence supporting a correlation with autosomal recessive NUS1-related congenital disorder of glycosylation (NUS1-CDG) (PMID: 25066056).
The NXF5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked focal segmental glomerulosclerosis (PMID: 26346198).
The NXN gene is associated with autosomal recessive Robinow syndrome (MedGen UID: 1676687).
The NYNRIN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 30885698).
The NYX gene is associated with X-linked congenital stationary night blindness, type 1A (CSNB1A) (MedGen UID: 326921).
The OAT gene is associated with autosomal recessive gyrate atrophy of choroid and retina (GACR) (MedGen UID: 109343).
The OBSL1 gene is associated with autosomal recessive 3-M syndrome (3M) (MedGen UID: 414168).
The OCA2 gene is associated with autosomal recessive oculocutaneous albinism (OCA) type 2 (MedGen UID: 82810).
The OCLN gene is associated with autosomal recessive band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) (MedGen UID: 1639355).
The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145) and Dent disease (MedGen UID: 931198).
The OFD1 gene is associated with X-linked dominant oral-facial-digital syndrome type 1 (OFD1) (MedGen UID: 307142), X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 440688), X-linked recessive primary ciliary dyskinesia (PCD) (PMID: 16783569), and X-linked recessive retinitis pigmentosa (RP) (MedGen UID: 238456).
The OPA1 gene is associated with autosomal dominant hereditary optic atrophy (OPA) (MedGen UID: 137902), optic atrophy plus syndrome (DOA+) (MedGen UID: 478179), autosomal dominant mitochondrial DNA deletion syndrome, and autosomal recessive Behr syndrome (MedGen UID: 66358). Additionally, the OPA1 gene has preliminary evidence supporting a correlation with autosomal recessive infantile mitochondrial encephalomyopathy hypertrophic cardiomyopathy with optic atrophy (MedGen UID: 903789).
The OPA3 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type III (formerly known as Costeff syndrome) (MedGen UID: 108273) and autosomal dominant optic atrophy and cataract (MedGen UID: 371657).
The OPHN1 gene is associated with syndromic X-linked intellectual disability with cerebellar hypoplasia (MedGen UID: 336920).
The OPLAH gene is associated with autosomal recessive 5-oxoprolinase deficiency (MedGen UID: 82814).
The OPN1SW gene is associated with autosomal dominant tritanopia (MedGen UID: 57827).
The OPTN gene is associated with autosomal dominant and recessive amyotrophic lateral sclerosis 12 (ALS12) (MedGen UID: 462042). The OPTN gene is also associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 87389).
The OR2W3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 25783483).
The ORC1 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 1641240).
The ORC4 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462447).
The ORC6 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462463).
The OSBPL2 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 900413).
The OSGEP gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1627611).
The OSTM1 gene is associated with autosomal recessive OSTM1 deficiency associated osteopetrosis (MedGen UID: 409627).
The OTC gene is associated with X-linked ornithine transcarbamylase (OTC) deficiency (MedGen UID: 75692).
The OTOA gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 339636).
The OTOF gene is associated with autosomal recessive nonsyndromic deafness and autosomal recessive auditory neuropathy (AN) (MedGen UID: 331376).
The OTOG gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 767077).
The OTOGL gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 767073).
The OTX2 gene is associated with a spectrum of autosomal dominant OTX2-related disorders, including microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558), Leber congenital amaurosis (LCA) (PMID: 29343940, 27422788, 29588463), agnathia-otocephaly complex (PMID: 27442045, 22577225), pituitary hormone deficiency (MedGen UID: 462790), and oculo-auriculo-vertebral (OAV) spectrum (PMID: 36368868).
The OVOL2 gene is associated with autosomal dominant posterior polymorphous corneal dystrophy 1 (PPCD1) (MedGen UID: 343836).
The P2RX2 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 330834).
The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).
The P3H2 gene is associated with autosomal recessive myopia with cataract and vitreoretinal degeneration (MedGen UID: 481976).
The P4HB gene is associated with autosomal dominant Cole-Carpenter syndrome (MedGen UID: 1374755).
The PACS1 gene is associated with autosomal dominant Schuurs-Hoeijmakers syndrome (MedGen UID: 767257).
The PACS2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1648486).
The PAFAH1B1 gene, previously known as LIS1, is associated with autosomal dominant lissencephaly including Miller-Dieker syndrome, isolated lissencephaly sequence, and subcortical band heterotopia (MedGen UID: 98463).
The PAH gene is associated with autosomal recessive hyperphenylalaninemia (HPA), which includes the spectrum of phenylketonuria (PKU), non-PKU hyperphenylalaninemia (non-PKU HPA) and benign HPA (MedGen UID: 19244).
The PAK3 gene is associated with X-linked intellectual disability 30 (XLID30) (MedGen UID: 163235).
The PALM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive atypical cerebral palsy (PMID: 30542205).
The PAM16 gene is associated with autosomal recessive spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) (MedGen UID: 413221).
The PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).
The PAPSS2 gene is associated with autosomal recessive brachyolmia (BCYM) (MedGen UID: 411234)
The PARN gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 905452).
The PARS2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 941850). Additionally, the PARS2 gene has preliminary evidence supporting a correlation with autosomal recessive Alpers syndrome (PMID: 25629079)
The PAX1 gene is associated with autosomal recessive otofaciocervical syndrome (MedGen UID: 811517). Additionally, the PAX1 gene has preliminary evidence supporting a correlation with autosomal dominant oculo-auricular-vertebral syndrome (PMID: 35879406).
The PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002) and autosomal dominant focal segmental glomerulosclerosis (MedGen UID: 863362).
The PAX3 gene is associated with autosomal dominant Waardenburg syndrome types 1 and 3 (WS1 and WS3) (MedGen UID: 376211 and 449531). Additionally, the PAX3 gene has preliminary evidence supporting correlations with craniofacial-deafness-hand syndrome (MedGen UID: 377694), and autosomal recessive WS3 (PMID: 20127975).
The PAX6 gene is associated with autosomal dominant Peters anomaly (MedGen UID: 91031), aniridia (MedGen UID: 576337), and optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has preliminary evidence supporting a correlation with autosomal dominant Gillespie syndrome (PMID: 17595013), foveal hypoplasia (MedGen UID: 811934), and keratitis (MedGen UID: 332039). Deletions of PAX6 are part of a contiguous gene deletion syndrome: Wilms tumor, aniridia, genitourinary anomalies and intellectual disability (WAGR) syndrome (MedGen UID: 64512).
The PAX9 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 43794).
The PBX1 gene is associated with autosomal dominant congenital anomalies of kidney and urinary tract syndrome with or without extra-renal anomalies (MedGen UID: 1612119).
The PC gene is associated with autosomal recessive pyruvate carboxylase (PC) deficiency (MedGen UID: 18801).
The PCARE gene (formerly known as C2orf71) is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462041).
The PCBD1 gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to pterin-4 alpha-carbinolamine dehydratase deficiency (MedGen UID: 440773).
The PCCA gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).
The PCCB gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).
The PCDH12 gene is associated with autosomal recessive diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) (MedGen UID: 1615973)
The PCDH15 gene is associated with autosomal recessive Usher syndrome (MedGen UID: 356393) and nonsyndromic deafness (MedGen UID: 332110). Additionally, the PCDH15 gene has preliminary evidence supporting a correlation with digenic Usher syndrome (PMID: 24618850, 15537665).
The PCDH19 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813). Males with somatic mosaicism have been reported to be affected with a similar phenotype to reported females (PMID: 28462982, 28669061, 26765483).
The PCGF2 gene is associated with autosomal dominant Turnpenny-Fry syndrome (MedGen UID: 941303).
The PCLO gene is associated with autosomal recessive pontocerebellar hypoplasia 3 (PCH3) (MedGen UID: 334225).
The PCNT gene is associated with autosomal recessive microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) (MedGen UID: 96587).
The PCSK1 gene is associated with autosomal recessive obesity due to prohormone convertase I deficiency (MedGen UID: 928547).
The PCYT1A gene is associated with autosomal recessive spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) (MedGen UID: 324684). Additionally, the PCYT1A gene has preliminary evidence supporting a correlation with autosomal recessive congenital lipodystrophy and fatty liver disease (PMID: 24889630).
The PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121).
The PDE10A gene is associated with autosomal dominant childhood onset chorea with bilateral striatal lesions (MedGen UID: 934758), and autosomal recessive infantile onset dyskinesia (MedGen UID: 934759).
The PDE2A gene is associated with autosomal recessive intellectual developmental disorder with paroxysmal dyskinesia or seizures (MedGen UID: 1727046).
The PDE3A gene is associated with autosomal dominant brachydactyly-arterial hypertension syndrome (MedGen UID: 349445).
The PDE4D gene is associated with autosomal dominant acrodysostosis (MedGen UID: 766164) and acroscyphodysplasia (PMID: 30006632).
The PDE6A gene is associated with autosomal recessive retinitis pigmentosa (MedGen UID: 462489). Additionally, the PDE6A gene has preliminary evidence supporting a correlation with autosomal dominant periventricular nodular heterotopia (PMID: 29738522).
The PDE6B gene is associated with autosomal dominant congenital stationary night blindness (CSNB) (MedGen UID: 361814), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462457).
The PDE6C gene is associated with autosomal recessive achromatopsia (MedGen UID: 57751) and retinal cone dystrophy (MedGen UID: 416518).
The PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).
The PDE6G gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462171).
The PDE6H gene is associated with autosomal recessive achromatopsia (MedGen UID: 57751).
The PDGFB gene is associated with autosomal dominant primary basal ganglia calcification type 5 (BGC5) (MedGen UID: 815975).
The PDGFRB gene is associated with autosomal dominant Kosaki overgrowth syndrome (KOGS) (MedGen UID: 851787), primary basal ganglia calcification 4 (BGC4) (MedGen UID: 767235), infantile myofibromatosis 1 (IMF1) (MedGen UID: 140933) and Penttinen-Aula syndrome (PENTT) (MedGen UID: 400936).
The PDHA1 gene is associated with X-linked pyruvate dehydrogenase E1-alpha (PDHE1Ī±) deficiency (MedGen UID: 326487).
The PDHB gene is associated with autosomal recessive pyruvate dehydrogenase complex (PDHC) deficiency (MedGen UID: 357977).
The PDHX gene is associated with autosomal recessive pyruvate dehydrogenase complex (PDHC) deficiency (MedGen UID: 343383).
The PDP1 gene is associated with autosomal recessive pyruvate dehydrogenase phosphatase deficiency (PDHPD) (MedGen UID: 332448).
The PDSS1 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766268).
The PDSS2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766272).
The PDYN gene is associated with autosomal dominant spinocerebellar ataxia 23 (SCA23) (MedGen UID: 339942). In addition, the PDYN gene has preliminary evidence supporting a correlation with autosomal dominant cardiac conduction disease (PMID: 30611784).
The PDZD7 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 1631180). Additionally, the PDZD7 gene has preliminary evidence supporting a correlation with digenic Usher syndrome type IIC (USH2C) (PMID: 20440071; MedGen UID: 460280).
The PET100 gene is associated with autosomal recessive mitochondrial complex IV deficiency (PMID: 24462369, 25293719).
The PEX1 gene is associated with autosomal recessive Zellweger spectrum disorders (ZSD) (MedGen UID: 489910, 343498, 21958, 1647369).
The PEX10 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766861, MedGen UID: 766862).
The PEX11B gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766969), also referred to as peroxisome biogenesis disorder 14B.
The PEX12 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766843, 79470).
The PEX13 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766914, 766915).
The PEX14 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766918).
The PEX16 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766873, 766874).
The PEX19 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766916).
The PEX2 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766854, 762202).
The PEX26 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 761334, 766865).
The PEX3 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766913).
The PEX5 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 347830, MedGen UID: 129184) and rhizomelic chondrodysplasia punctata (RCDP) (PMID: 26220973).
The PEX6 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766850, 766851, 903520).
The PEX7 gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata (RCDP) (MedGen UID: 347072) and autosomal recessive Refsum disease (MedGen UID:11161).
The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 862780). Additionally, the PGAP1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).
The PGAP3 gene is associated with autosomal recessive PGAP-congenital disorder of glycosylation (MedGen UID: 816684).
The PGK1 gene is associated with X-linked phosphoglycerate kinase 1 (PGK1) deficiency (MedGen UID: 410166).
The PGM3 gene is associated with autosomal recessive PGM3-congenital disorder of glycosylation (CDG) (MedGen UID: 862808).
The PHAX gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant adult-onset leukodystrophy (ADLD) (PMID: 25701871, 30842973).
The PHEX gene is associated with X-linked hypophosphatemia (XLH) (MedGen UID: 196551).
The PHF21A gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 946123).
The PHF6 gene is associated with X-linked Borjeson-Forssman-Lehmann syndrome (MedGen UID: 78557) and Coffin-Siris syndrome (PMID: 24092917, 25099957).
The PHGDH gene is associated with autosomal recessive phosphoglycerate dehydrogenase deficiency (MedGen UID: 400935), which includes Neu-Laxova syndrome (NLS) (MedGen UID: 833709). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant macular telangiectasia (PMID: 33758422)
The PHIP gene is associated with an autosomal dominant neurodevelopmental disorder including developmental delay, intellectual disability, dysmorphic facial features, and obesity (MedGen UID: 1641154). Additionally, the PHIP gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 27824329).
The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052). Most cases of CCHS are due to a polyalanine repeat expansion, which is not analyzed by this test.
The PHYH gene is associated with autosomal recessive Refsum disease (MedGen UID: 11161).
The PIAS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 26489029).
The PIBF1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 1615779).
The PIEZO2 gene is associated with autosomal dominant distal arthrogryposis type 3 (DA3) (MedGen UID: 66314) and distal arthrogryposis type 5 (DA5) (MedGen UID: 350678), and autosomal recessive distal arthrogryposis with impaired proprioception and touch (DAIPT)(MedGen UID: 934659).
The PIGA gene is associated with X-linked PIGA-congenital disorder of glycosylation (MedGen UID: 477139).
The PIGB gene is associated with autosomal recessive early infantile epileptic encephalopathy 80 (MedGen UID: 945343).
The PIGG gene is associated with autosomal recessive PIGG-congenital disorder of glycosylation (PIGG-CDG) (PMID: 26996948, 28581210).
The PIGL gene is associated with autosomal recessive CHIME syndrome (MedGen UID: 341214).
The PIGM gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal recessive PIGM-congenital disorder of glycosylation (MedGen UID: 342819).
The PIGN gene is associated with autosomal recessive PIGN-congenital disorder of glycosylation (MedGen UID: 481405).
The PIGO gene is associated with autosomal recessive PIGO-congenital disorder of glycosylation (MedGen UID: 766551).
The PIGP gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1622363).
The PIGQ gene is associated with autosomal recessive PIGQ-congenital disorder of glycosylation (MedGen UID: 945249).
The PIGT gene is associated with autosomal recessive PIGT-congenital disorder of glycosylation (MedGen UID 815686). Additionally, the PIGT gene has preliminary evidence supporting a correlation with paroxysmal nocturnal hemoglobinuria (PMID: 23733340, 31430258, 31638602).
The PIGU gene is associated with autosomal recessive glycosylphosphatidylinositol biosynthesis defect 21 (MedGen UID: 945349).
The PIGV gene is associated with autosomal recessive hyperphosphatasia with intellectual disability syndrome (MedGen UID: 383800, 1647044), also referred to as Mabry syndrome.
The PIGW gene is associated with autosomal recessive glycosylphosphatidylinositol (GPI) biosynthesis defect 11, also known as hyperphosphatasia with intellectual disability syndrome 5 (MedGen UID: 863395).
The DNAAF6 gene (formerly known as PIH1D3) is associated with X-linked recessive primary ciliary dyskinesia (MedGen UID: 1393107).
The PIK3AP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile spasms (PMID: 25262651).
The PIK3C2A gene is associated with autosomal recessive oculoskeletodental syndrome (MedGen UID: 941796).
The PIK3R1 gene is associated with autosomal dominant SHORT syndrome (MedGen UID: 164212), autosomal dominant activated PI3K-delta syndrome (PMID: 25133428) and autosomal recessive agammaglobulinemia (PMID: 22351933).
The PIK3R2 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 861164).
The PIKFYVE gene is associated with autosomal dominant fleck corneal dystrophy (FCD) (MedGen UID: 287065).
The PINK1 gene is associated with autosomal recessive early-onset Parkinson disease 6 (PARK6) (MedGen UID: 342982). Additionally, the PINK1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease (PMID: 20461815).
The PISD gene is associated with an autosomal recessive skeletal dysplasia (PMID: 30488656, 30858161).
The PITPNM3 gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 322083).
The PITX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Liebenberg syndrome (MedGen UID: 396103), autosomal dominant congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly (MedGen UID: 891649) and autosomal dominant mandibular-Pelvic-Patellar syndrome (PMID: 32598510).
The PITX2 gene is associated with autosomal dominant Axenfeld-Rieger syndrome (ARS) (MedGen UID: 811487) and autosomal dominant iridogoniodysgenesis (MedGen UID: 330750). Additionally, the PITX2 gene has preliminary evidence supporting a correlation with Peters anomaly (PMID: 10051017) and ring dermoid of cornea (PMID: 15591271).
The PITX3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351162) and anterior segment mesenchymal dysgenesis (ASMD)(MedGen UID: 350766).
The PKD2 gene is associated with autosomal dominant polycystic kidney disease, type 2 (MedGen UID: 442699).
The PKDCC gene is associated with an autosomal recessive rhizomelic limb shortening with dysmorphic features (Medgen UID: 1720321).
The PKHD1 gene is associated with autosomal recessive polycystic kidney disease (MedGen UID: 39076).
The PKP1 gene is associated with autosomal recessive ectodermal dysplasia/skin fragility syndrome (MedGen UID: 388032).
The PLA2G5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive familial benign fleck retina (PMID: 22137173).
The PLA2G6 gene is associated with a spectrum of autosomal recessive conditions including PLA2G6-associated neurodegeneration (PLAN) (MedGen UID: 831067), neuroaxonal dystrophy (NAD) (MedGen UID: 82852), and Parkinson disease 14 (PARK14) (MedGen UID: 414488).
The PLAA gene is associated with an autosomal recessive neurodevelopmental disorder (MedGen UID: 1380260).
The PLCB1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462338).
The PLCB4 gene is associated with autosomal dominant and autosomal recessive auriculocondylar syndrome (MedGen UID: 766318).
The PLCE1 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 377831).
The PLD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia 46 (SCA46) (MedGen UID: 1624251).
The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 418981), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). Additionally, the c.5998C>T (p.Arg2000Trp) variant in PLEC is associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).
The PLEKHG2 gene is associated with autosomal recessive leukodystrophy and acquired microcephaly with or without dystonia (MedGen UID: 908888).
The PLG gene is associated with autosomal dominant angioedema (MedGen UID: 944089) and autosomal recessive plasminogen deficiency, type I (MedGen UID: 369859).
The PLK4 gene is associated with autosomal recessive microcephaly and short stature with or without ocular anomalies (PMID: 25320347, 25344692, 27650967).
The PLOD1 gene is associated with autosomal recessive Ehlers-Danlos syndrome, kyphoscoliotic form (MedGen UID: 75672).
The PLOD2 gene is associated with autosomal recessive Bruck syndrome (MedGen UID: 373129).
The PLOD3 gene is associated with autosomal recessive lysyl hydroxylase-3 (LH3) deficiency (MedGen UID: 1634321).
The PLP1 gene is associated with a spectrum of X-linked conditions including hereditary spastic paraplegia 2 (SPG2) (MedGen UID: 374177) and hypomyelinating leukodystrophy type 1 (HLD1), also known as Pelizaeus-Merzbacher disease (PMD) (MedGen UID: 61440).
The PLS3 gene is associated with X-linked osteoporosis (MedGen UID: 813042).
The PLXNA1 gene is associated with an autosomal recessive neurodevelopmental disorder (PMID: 34054129). Additionally, there is preliminary evidence supporting a correlation with an autosomal dominant neurodevelopmental disorder (PMID: 34054129) and hypogonadotropic hypogonadism (PMID: 30467832).
The PLXNA2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 28407358), Tetralogy of Fallot (PMID: 11688557, 22912587), and atypical cerebral palsy (PMID: 30542205).
The PMM2 gene is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID 138111).
The PMP22 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727), CMT type 1E (CMT1E) (MedGen UID: 501212), and hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291). Other PMP22-related disorders have also been reported (OMIM 601097).
The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The PNKD gene is associated with autosomal dominant paroxysmal nonkinesigenic dyskinesia 1 (PNKD1) (MedGen UID: 1631383). Additionally, the PNKD gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28894297).
The PNKP gene is associated with autosomal recessive ataxia with oculomotor apraxia 4 (AOA4) (MedGen UID: 902323), Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID:Ā 381352) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462017).
The PNP gene is associated with autosomal recessive purine nucleoside phosphorylase deficiency (MedGen UID: 75653).
The PNPLA1 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 767269).
The PNPLA6 gene is associated with a spectrum of autosomal recessive neurological conditions, including hereditary spastic paraplegia 39 (SPG39) (MedGen UID: 383142), Boucher-Neuhauser syndrome (BNHS) (MedGen UID: 347798), Oliver-McFarlane syndrome (OMCS) (MedGen UID: 338532), and Lawrence-Moon syndrome (LNMS) (MedGen UID: 44078).
The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).
The PNPT1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 13 (COXPD13) (MedGen UID: 767043). Additionally, the PNPT1 gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (DFNB) (MedGen UID: 760477).
The POC1A gene is associated with autosomal recessive short stature, onychodysplasia, facial dysmorphism, hypotrichosis (SOFT) syndrome (MedGen UID: 762199).
The POC1B gene is associated with autosomal recessive cone-rod dystrophy (MedGen UID: 863293).
The POC5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 29272404).
The PODXL gene is associated with autosomal dominant focal segmental glomerulosclerosis (PMID: 24048372). Additionally, the PODXL gene has preliminary evidence supporting a correlation with autosomal recessive Parkinson disease (PMID: 28733970) and autosomal recessive nephrotic syndrome (PMID: 29244787).
The POLG gene is associated with a spectrum of related autosomal recessive conditions including Alpers-Huttenlocher syndrome (AHS) (MedGen UID: 60012), childhood myocerebrohepatopathy spectrum (MCHS) (PMID: 18546365, 15689359), myoclonic epilepsy myopathy sensory ataxia (MEMSA) (MedGen UID: 334510), progressive external ophthalmoplegia (arPEO) (MedGen UID: 897191) and ataxia neuropathy spectrum (ANS) (MedGen UID: 375302). In addition, the POLG gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (adPEO) (MedGen UID: 371919).
The POLG2 gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions 4 (PEOA4) (MedGen UID: 350480).
The POLH gene is associated with autosomal recessive xeroderma pigmentosum (MedGen UID: 376352).
The POLR1A gene is associated with autosomal dominant acrofacial dysostosis (MedGen UID: 903483) and autosomal recessive leukodystrophy (PMID: 36917474).
The POLR1C gene is associated with autosomal recessive Treacher Collins syndrome (MedGen UID: 340868) and hypomyelinating leukodystrophy (MedGen UID: 897960).
The POLR1D gene is associated with autosomal dominant Treacher Collins syndrome (MedGen UID: 462333).
The POLR3A gene is associated with autosomal recessive hypomyelinating leukodystrophy 7 (MedGen UID: 390993) and autosomal recessive Wiedemann-Rautenstrauch syndrome (MedGen UID: 140806).
The POLR3B gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1I (MedGen UID: 990913) and autosomal recessive hypomyelinating leukodystrophy 8 (HLD8), with or without oligodontia and/or hypogonadotropic hypogonadism (MedGen UID: 482274).
The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934671).
The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727) and type C8 (MDDGC8) (MedGen UID: 1648468).
The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 863621).
The POMP gene is associated with autosomal dominant proteasome-associated autoinflammatory syndrome type 2 (PRAAS2) (MedGen UID: 1648482) and autosomal recessive keratosis linearis with ichthyosis congenita and sclerosis keratoderma (KLICK) syndrome (MedGen UID: 356430).
The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).
The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).
The POP1 gene is associated with autosomal recessive anauxetic dysplasia (MedGen UID: 1384439).
The POR gene is associated with autosomal recessive cytochrome P450 oxidoreductase deficiency (POR) deficiency (MedGen UID: 461449).
The PORCN gene is associated with X-linked focal dermal hypoplasia (MedGen UID: 42055). Additionally, the PORCN gene has preliminary evidence supporting a correlation with X-linked recessive anophthalmia and microphthalmia (MedGen UID: 468558).
The POT1 gene is associated with autosomal dominant POT1 tumor predisposition syndrome (MedGen UID: 862913).
The POU3F4 gene is associated with X-linked nonsyndromic deafness (MedGen UID: 336750).
The POU4F3 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 355451).
The PPIB gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 376720).
The PPM1D gene is associated with autosomal dominant Jansen de Vries syndrome (MedGen UID: 1385744).
The PPP1CB gene is associated with autosomal dominant Noonan syndrome-like disorder with loose anagen hair (MedGen UID: 1376945).
The PPP1R12A gene is associated with autosomal dominant genitourinary and/or brain malformation syndrome (MedGen UID: 1720440).
The PPP1R15B gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with microcephaly, short stature, and impaired glucose metabolism 2 (MedGen UID: 906140).
The PPP2CA gene is associated with autosomal dominant intellectual disability (MedGen UID: 941281).
The PPP2R1A gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 899880).
The PPP2R5B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal dominant overgrowth syndrome (PMID: 25972378).
The PPP2R5C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal dominant overgrowth syndrome (PMID: 25972378).
The PPP2R5D gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 900298).
The PPP3CA gene is associated with autosomal dominant arthrogryposis, cleft palate, craniosynostosis, and intellectual disability (ACCID) (MedGen UID: 1648372) and early infantile or childhood epileptic encephalopathy (EICEE) (MedGen UID: 1626137).
The PPT1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).
The PQBP1 gene is associated with X-linked recessive Renpenning syndrome (MedGen UID: 208670).
The PRCD gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 351175).
The PRDM13 gene is associated with autosomal dominant North Carolina macular dystrophy (PMID: 26507665, 30710461). Additionally, there is preliminary evidence supporting an association with autosomal recessive cerebellar ataxia (PMID: 29878067) and congenital hypogonadotropic hypogonadism and cerebellar hypoplasia (PMID: 34730112).
The PRDM5 gene is associated with autosomal recessive brittle cornea syndrome (MedGen UID: 481641). Additionally, the PRDM5 gene has preliminary evidence supporting an association with autosomal recessive Axenfeld-Rieger syndrome (ARS) (PMID: 26489929).
The PRDM8 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 907932).
The PREPL gene is associated with autosomal recessive congenital myasthenic syndrome 22 (CMS22) (MedGen UID: 1393545). Additionally, contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria syndrome (PMID: 16385448).
The PRF1 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 2 (FHL2) (MedGen UID: 400366). There is also preliminary evidence supporting a correlation with non-Hodgkin lymphoma (PMID: 25215106, 23734337, 24390453).
The PRICKLE1 gene is associated with autosomal recessive progressive myoclonic epilepsy with ataxia (EPM1B) (MedGen UID: 394003).
The PRICKLE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant progressive myoclonic epilepsy 5 (PMID: 21276947, 23711981).
The PRIMA1 gene is associated with autosomal recessive nocturnal frontal lobe epilepsy (PMID: 26339676).
The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559) and acrodysostosis (MedGen UID: 477858).
The PRKCSH gene is associated with autosomal dominant polycystic liver disease (PCLD) (MedGen UID: 56388).
The PRKDC gene is associated with autosomal recessive severe combined immunodeficiency due to DNA PKcs deficiency (MedGen UID: 863270).
The PRKG1 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 815843).
The PRKRA gene is associated with autosomal recessive dystonia 16 (DYT16) (MedGen UID: 436979). Additionally, the PRKRA gene has preliminary evidence supporting a correlation with autosomal dominant dystonia (PMID: 18420150).
The PRMT7 gene is associated with autosomal recessive short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) (MedGen UID: 934656).
The PRNP gene is associated with a spectrum of autosomal dominant neurodegenerative disorders including Creutzfeldt-Jakob disease (CJD) (MedGen UID: 7179), Gerstmann-Straussler-Scheinker (GSS) syndrome (MedGen UID: 4886), and fatal familial insomnia (FFI) (MedGen UID: 104768), collectively known as genetic prion diseases.
The PRODH gene is associated with autosomal recessive hyperprolinemia type I (MedGen UID: 120645), a biochemical phenotype which may or may not result in a clinical condition. Please note that PRODH lies within the 22q11.2 region.
The PROK2 gene is associated with autosomal recessive (MedGen UID: 765257) and autosomal dominant (PMID: 17054399, 24031091, 18559922) hypogonadotropic hypogonadism 4 with or without anosmia.
The PROKR2 gene is associated with autosomal recessive Kallmann syndrome (MedGen UID: 763392) and autosomal dominant Kallmann syndrome (PMID: 17054399, 23643382, 33983622).
The PROM1 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 383126), autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 393334), and autosomal recessive Stargardt disease (PMID: 25474345, 28095140). Additionally, the PROM1 gene is associated with autosomal dominant retinal macular dystrophy (MCDR) (MedGen UID: 137921) and autosomal dominant Stargardt-like disease (STGD) (MedGen UID: 355004).
The PROP1 gene is associated with autosomal recessive combined pituitary hormone deficiency (MedGen UID: 209236).
The PLPBP (also known as PROSC) gene is associated with autosomal recessive pyridoxine-dependent epilepsy (PDE) (MedGen UID: 934599).
The PRPF3 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 371314).
The PRPF31 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 325055).
The PRPF4 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 863118).
The PRPF6 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 462784). Additionally, the PRPF6 gene has preliminary evidence supporting a correlation with high myopia (PMID: 29453956).
The PRPF8 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 325486), primary open angle glaucoma (PMID: 28707069), and PRPF8-related neurodevelopmental condition (PMID: 35543142).
The PRPH2 gene is associated with autosomal dominant and autosomal recessive PRPH2-related conditions including retinitis pigmentosa (RP) (MedGen UID: 334168), Leber congenital amaurosis (LCA) (MedGen UID: 137922), macular dystrophy (MD) (MedGen UID: 1636950), central areolar choroidal dystrophy (CACD) (MedGen UID: 442696), and Stargardt disease (PMID: 22863181).
The PRPS1 gene is associated with a spectrum of X-linked conditions including Charcot-Marie-Tooth disease type 5 (CMTX5) (MedGen UID: 374254), Arts syndrome (MedGen UID: 163205), phosphoribosylpyrophosphate synthetase (PRS) superactivity (MedGen UID: 370358), and congenital sensorineural deafness type 1 (DFNX1) (MedGen UID: 336749).
The PRRT2 gene is associated with a spectrum of clinically overlapping autosomal dominant neurological conditions including episodic kinesigenic dyskinesia 1 (EKD1) (MedGen UID: 1636366), benign familial infantile seizures 2 (BFIS2) (MedGen UID: 381313), autosomal dominant familial hemiplegic migraine (FHM) (PMID: 34649875, 33126486) and familial infantile convulsions with paroxysmal choreoathetosis (ICCA) (MedGen UID: 356123).
The PRSS1 gene is associated with autosomal dominant hereditary pancreatitis (Medgen UID: 116056).
The PRSS56 gene is associated with autosomal recessive isolated microphthalmia-6 (MCOP6) (MedGen UID: 462107).
The PRUNE1 gene is associated with an autosomal recessive neurodevelopmental condition with microcephaly, hypotonia, and variable brain anomalies (MedGen UID: 1380860).
The PSAP gene is associated with autosomal recessive combined saposin deficiency (PSAPD) (MedGen UID: 382151), metachromatic leukodystrophy due to saposin B deficiency (MedGen UID: 120624), and atypical Gaucher disease due to saposin C deficiency (PMID: 17919309). There is also preliminary evidence supporting a correlation with atypical Krabbe disease due to saposin A deficiency (PMID: 15773042).
The PSAT1 gene is associated with autosomal recessive phosphoserine aminotransferase (PSAT) deficiency (MedGen UID: 410026), which includes Neu-Laxova syndrome type 2 (MedGen UID: 863456).
The PSEN1 gene is associated with autosomal dominant Alzheimer disease type 3 (AD3) (MedGen UID: 334304). Additionally, the PSEN1 gene has preliminary evidence supporting a correlation with autosomal dominant familial acne inversa type 3 (ACNINV3) (MedGen UID: 462388), dilated cardiomyopathy (MedGen UID: 463620), and frontotemporal dementia (FTD) (MedGen UID: 83266, 116020).
The PSMC3IP gene is associated autosomal recessive primary ovarian insufficiency (MedGen UID: 482101).
The PSPH gene is associated with autosomal recessive phosphoserine phosphatase deficiency (PSPHD) (PMID: 25080166, 14673469).
The PTCH1 gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554). Additionally, the PTCH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134).
The PTCH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (PMID: 18285427, 31945512).
The PTDSS1 gene is associated with autosomal dominant Lenz-Majewski hyperostosis syndrome (LMHD) (MedGen UID: 98483).
The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS), including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and PTEN-related autism spectrum disorder (MedGen UID: 368366). Other PTEN-associated conditions have also been described (PMID: 11755638, 17392703, 27890237).
The PTH1R gene is associated with autosomal recessive Blomstrand chondrodysplasia (BOCD) (MedGen UID: 395189), autosomal recessive Eiken syndrome (MedGen UID: 325097), autosomal dominant Jansen type metaphyseal chondrodysplasia (JMC) (MedGen UID: 120529) and autosomal dominant primary failure of tooth eruption (PFTE) (MedGen UID: 338882). Additionally, the PTH1R gene has preliminary evidence supporting correlations with autosomal dominant Ollier syndrome (PMID: 18559376) and autosomal recessive pseudohypoparathyroidism with neurological involvement (PMID: 27415614).
The PTHLH gene is associated with autosomal dominant brachydactyly type E (BDE) with and without short stature (MedGen UID: 461994).
The PTPN11 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 1638960) and Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 1631694). In addition, PTPN11 is associated with autosomal dominant metachondromatosis (MedGen UID: 98377).
The PTPN23 gene is associated with autosomal recessive neurodevelopmental delay and structural brain abnormalities (MedGen UID: 965544).
The PTPRO gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 481730).
The PTS gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (MedGen UID: 209234).
The PURA gene is associated with autosomal dominant PURA syndrome (MedGen UID: 1634675).
The PUS3 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 934712).
The PXDN gene is associated with autosomal recessive corneal opacification and other ocular anomalies (COPOA) (MedGen UID: 462967).
The PYCR1 gene is associated with autosomal recessive cutis laxa, type 2B (ARCL2B) (MedGen UID: 414526).
The PYCR2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-10 (HLD10) (MedGen UID: 904191).
The QARS gene is associated with autosomal recessive progressive microcephaly with seizures and cerebral and cerebellar atrophy (MedGen UID: 862676).
The QDPR gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to quinoid dihydropteridine reductase deficiency (MedGen UID: 75682).
The QRSL1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 40 (COXPD40) (MedGen UID: 955948).
The RAB11A gene is associated with autosomal dominant developmental and epileptic encephalopathy (PMID: 29100083).
The RAB11B gene is associated with an autosomal dominant neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MedGen UID: 1621102).
The RAB18 gene is associated with autosomal recessive autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 481833).
The RAB23 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 1644017).
The RAB27A gene is associated with autosomal recessive Griscelli syndrome type 2 (GS2) (MedGen UID: 357030).
The RAB28 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 815629).
The RAB33B gene is associated with autosomal recessive Smith-McCort dysplasia (MedGen UID: 811489).
The RAB39B gene is associated with X-linked Waisman syndrome (MedGen UID: 208674).
The RAB3GAP1 gene is associated with autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 333142).
The RAB3GAP2 gene is associated with autosomal recessive Warburg micro syndrome (WARBM) (MedGen UID: 472601).
The RAD21 gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 766431) and autosomal dominant holoprosencephaly (PMID: 31334757). Additionally, the RAD21 gene has preliminary evidence supporting a correlation with autosomal recessive chronic intestinal pseudo-obstruction (CIPO), or Mungan syndrome (MedGen UID: 369554).
The RAF1 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 370589) and Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588). In addition, RAF1 is associated with autosomal dominant dilated cardiomyopathy (MedGen UID: 863093).
The RAI1 gene is associated with autosomal dominant Smith-Magenis syndrome (MedGen UID: 162881), which usually results from a common 17p11.2 microdeletion that includes RAI1, as well as autosomal dominant Potocki-Lupski syndrome (PTLS) (MedGen UID: 894862), which usually results from a common 17p11.2 duplication that includes RAI1. Additionally, the RAI1 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic deafness (PMID: 27082237).
The RALA gene is associated with autosomal dominant syndromic intellectual disability (PMID: 30500825).
The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634).
The RARB gene is associated with autosomal dominant pulmonary hypoplasia, diaphragmatic hernia, anophthalmia/microphthalmia, and cardiac defect (PDAC) syndrome (MedGen UID: 816133). Additionally, the RARB gene has preliminary evidence supporting a correlation with autosomal recessive PDAC syndrome (PMID: 24075189).
The RARS gene is associated with autosomal recessive hypomyelinating leukodystrophy 9 (HLD9) (MedGen UID: 863760). Additionally, the RARS gene has preliminary evidence supporting a correlation with autosomal dominant chronic obstructive pulmonary disease (PMID: 26736064).
The RARS2 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) (MedGen UID: 370596).
The RASA1 gene is associated with autosomal dominant capillary malformation-arteriovenous malformations (CM-AVM) (MedGen UID: 334007) and Parkes Weber syndrome (MedGen UID: 442305).
The RASA2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (PMID: 25049390).
The RAX gene is associated with autosomal recessive isolated microphthalmia (MCOP) (MedGen UID: 370863).
The RAX2 gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 322767) and autosomal recessive retinitis pigmentosa (RP) (PMID: 30377383).
The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). There is also evidence suggesting RB1 is associated with predisposition to several cancer types among retinoblastoma survivors (PMID: 14996857, 22355046).
The RBBP8 gene is associated with autosomal recessive forms of microcephaly, including Jawad syndrome (MedGen UID: 810673) and Seckel syndrome (MedGen UID: 338264).
The RBFOX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 23350840, 24039908, 25950944, 26174448).
The RBFOX3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 24603971, 24039908).
The RBM10 gene is associated with X-linked recessive TARP syndrome (MedGen UID: 333324).
The RBM48 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 26489029).
The RBM8A gene is associated with autosomal recessive thrombocytopenia absent radius (TAR) syndrome (MedGen UID: 61235).
The RBP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis (LCA) (PMID: 25445212).
The RBP3 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 811638).
The RBP4 gene is associated with autosomal dominant microphthalmia, anophthalmia, and coloboma (MAC) spectrum (MedGen UID: 909133), and autosomal recessive retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) (MedGen UID: 767507).
The RBPJ gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 766662).
The RCBTB1 gene is associated with autosomal recessive retinal dystrophy with or without extraocular anomalies (MedGen UID: 934647).
The RCOR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Joubert syndrome (PMID: 26489029).
The RD3 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 347535 ).
The RDH11 gene is associated with autosomal recessive retinitis pigmentosa with syndromic features (MedGen UID: 863679). Additionally, the RDH11 gene has preliminary evidence supporting a correlation with microcephaly with intellectual disability (PMID: 29302074).
The RDH12 gene is associated with a spectrum of autosomal recessive retinal dystrophies including Leber congenital amaurosis (MedGen UID: 382544), cone-rod dystrophy, retinitis pigmentosa, and macular dystrophy (PMID: 32790509, 32014858, 30134391). The RDH12 gene is also associated with autosomal dominant retinitis pigmentosa (PMID: 18779497, 34031043).
The RDH5 gene is associated with autosomal recessive fundus albipunctatus (FA) (MedGen UID: 86317).
The RDX gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 370208).
The RECQL4 gene is associated with autosomal recessive Rothmund-Thomson syndrome (RTS) (MedGen UID: 10819), RAPADILINO syndrome (MedGen UID: 336602), and Baller-Gerold syndrome (BGS) (MedGen UID: 120532).
The REEP1 gene is associated with a spectrum of overlapping autosomal dominant conditions including hereditary spastic paraplegia 31 (SPG31) (MedGen UID: 377858) and distal hereditary motor neuropathy 5B (HMN5B) (MedGen UID: 766570). Additionally, the REEP1 gene has preliminary evidence supporting a correlation with autosomal recessive distal spinal muscular atrophy (DSMA6) (MedGen UID: 994200).
The REEP2 gene is associated with autosomal dominant and autosomal recessive hereditary spastic paraplegia 72 (SPG72) (MedGen UID:816490).
The REEP6 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934593).
The RELN gene is associated with autosomal dominant and autosomal recessive lissencephaly (MedGen UID: 163213; PMID: 35769015) and autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 907609).
The REN gene is associated with autosomal dominant tubulointerstitial kidney disease (ADTKD) (MedGen UID: 414347) and autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).
The REPS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with neurodegeneration with brain iron accumulation (MedGen UID: 1647672).
The RERE gene is associated with autosomal dominant neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) (MedGen UID: 934739).
The REST gene is associated with autosomal dominant predisposition to Wilms tumor (MedGen UID: 855962), autosomal dominant gingival fibromatosis, type 5 (MedGen UID: 1624392), and autosomal dominant nonsyndromic hearing loss (MedGen UID: 854637).
The RET gene is associated with autosomal dominant multiple endocrine neoplasia type 2 (MEN2) (MedGen UID: 9958) and nonsyndromic Hirschsprung disease (MedGen UID: 419188).
The RFT1 gene is associated with autosomal recessive RFT1-congenital disorder of glycosylation (CDG-In) (MedGen UID: 383145).
The RGR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with inherited retinal disease (PMID: 10581022, 30347075).
The RGS6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cataracts (PMID: 29914532) and autosomal recessive syndromic cataract with intellectual disability (ID) and microcephaly (PMID: 29302074).
The RGS9 gene is associated with autosomal recessive bradyopsia (MedGen UID: 331206).
The RGS9BP gene is associated with autosomal recessive bradyopsia (MedGen UID: 331206). Additionally, the RGS9BP gene has preliminary evidence supporting a correlation with autosomal recessive cone-rod dystrophy (PMID: 26355662).
The RHBDF2 gene is associated with autosomal dominant tylosis with esophageal cancer (MedGen UID: 324338).
The RHO gene is associated with autosomal dominant and recessive retinitis pigmentosa (RP)(MedGen UID: 462351) and autosomal dominant congenital stationary night blindness (CSNBAD) (MedGen UID: 355852).
The RHOBTB2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1633501).
The RIMS1 gene is associated with autosomal dominant cone-rod dystrophy (MedGen UID: 355026).
The RIN2 gene is associated with autosomal recessive macrocephaly, alopecia, cutis laxa, and scoliosis (MedGen UID: 416526).
The RIPPLY2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 33410135, 26238661).
The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 815563), which is one of the RASopathies (MedGen UID: 1792298).
The RLBP1 gene is associated with autosomal recessive disorders including retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), and fundus albipunctatus (FA) (MedGen UID: 893672) .
The RMND1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 11 (COXPD 11) (MedGen UID: 766981).
The RMRP gene is associated with autosomal recessive cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders (MedGen UID: 375972).
The RNASEH2A gene is associated with autosomal recessive Aicardi Goutieres syndrome 4 (AGS4) (MedGen UID: 332084).
The RNASEH2B gene is associated with autosomal recessive Aicardi Goutieres syndrome 2 (AGS2) (MedGen UID: 483677).
The RNASEH2C gene is associated with autosomal recessive Aicardi Goutieres syndrome 3 (AGS3) (MedGen UID: 324389).
The RNASET2 gene is associated with autosomal recessive cystic leukoencephalopathy, without megalencephaly (MedGen UID: 416646), and has clinical overlap with Aicardi Goutierres syndrome.
The RNF113A gene is associated with X-linked trichothiodystrophy (MedGen UID: 899675).
The RNF125 gene is associated with autosomal dominant Tenorio syndrome (MedGen UID: 864147).
The RNF13 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1681654).
The RNF216 gene is associated with autosomal recessive Gordon Holmes syndrome (MedGen UID: 349137).
The RNLS gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pediatric cataracts (PMID: 22935719).
The RNU4ATAC gene is associated with autosomal recessive Roifman syndrome (MedGen UID: 375801), microcephalic osteodysplastic primordial dwarfism (MedGen UID: 347149), and Lowry-Wood syndrome (PMID: 29265708, 30368667).
The ROBO1 gene is associated with autosomal recessive congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 29194579) and autosomal dominant pituitary stalk interruption syndrome (MedGen UID: 883774). Additionally, the ROBO1 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 28592524) and childhood-onset epileptic encephalopathy (PMID: 35348658).
The ROBO2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant vesicoureteral reflux (PMID: 17357069, 18235093).
The ROGDI gene is associated with autosomal recessive Kohlschutter syndrome (MedGen UID: 98036).
The ROM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 8595413, 9331261). Additionally, there is preliminary evidence suggesting the ROM1 gene may be a modifier of the PRPH2-associated retinitis pigmentosa phenotype (PMID: 8202715).
The ROR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (MedGen UID: 1627841).
The ROR2 gene is associated with autosomal dominant brachydactyly (MedGen UID: 349432) and autosomal recessive Robinow syndrome (MedGen UID: 341431).
The RORB gene is associated with autosomal dominant epilepsy (PMID: 27352968).
The RP1 gene is associated with autosomal dominant and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 67395).
The RP1L1 gene is associated with autosomal dominant occult macular dystrophy (OCMD) (MedGen UID: 462183) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 946424).
The RP2 gene is associated with X-linked retinitis pigmentosa (RP) (MedGen UID: 394544).
The RP9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 29785639).
The RPE65 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 348473), and retinitis pigmentosa (RP) (MedGen UID: 462436). One variant in the RPE65 gene (p.Asp477Gly) is associated with autosomal dominant retinal dystrophy with choroidal involvement (PMID: 21654732, 27307694), and if detected is present in the Results Table and Variant Details.
The RPGR gene is associated with X-linked primary ciliary dyskinesia (PMID: 16055928), retinitis pigmentosa (MedGen UID: 336999) and cone-rod dystrophy (MedGen UID: 336777).
The ORF15 isoform of RPGR is associated with X-linked retinitis pigmentosa (MedGen UID: 336999) and cone-rod dystrophy (MedGen UID: 336777).
The RPGRIP1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 344245) and cone-rod dystrophy (CRD) (MedGen UID: 413025).
The RPGRIP1L gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The RPIA gene is associated with autosomal recessive ribose 5-phosphate isomerase deficiency (RPID) (MedGen UID: 220946).
The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).
The RPL21 gene is associated with autosomal dominant hereditary hypotrichosis simplex (MedGen UID: 863000).
The RPL26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 766956).
The RPL35A gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 382705).
The RPL5 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 75558).
The RPS10 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412874).
The RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 266045).
The RPS24 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 387892).
The RPS26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412873).
The RPS28 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Diamond-Blackfan anemia with mandibulofacial dystostosis (MedGen UID: 902755).
The RPS6KA3 gene is associated with X-linked Coffin Lowry syndrome (MedGen UID: 75556) and isolated intellectual disability (MedGen UID: 208676).
The RPS6KC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive developmental delay with brain abnormalities and delayed myelination (PMID: 27435318).
The RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).
The RRAGA gene is associated with autosomal dominant juvenile-onset cataracts (PMID: 27294265). Additionally, the RRAGA gene has preliminary evidence supporting a correlation with congenital heart defects (PMID: 28991257).
The RRAS gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (PMID: 26446362, 24705357).
The RRAS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 1684730), which is one of the RASopathies (MedGen UID: 1792298).
The RRM2B gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (PEOA5) (MedGen UID: 413981) and autosomal recessive mitochondrial DNA depletion syndrome 8A (MDS8A) (MedGen UID: 412815).
The RS1 gene is associated with X-linked juvenile retinoschisis (XLRS) (MedGen UID: 82863).
The RSPH1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 815964).
The RSPH3 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) type 32 (MedGen UID: 850963).
The RSPH4A gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 390741).
The RSPH9 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 436379).
The RSPO1 gene is associated with autosomal recessive palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal (MedGen UID: 461281).
The RSPO2 gene is associated with autosomal recessive tetra-amelia syndrome (MedGen UID: 1648284).
The RSPRY1 gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) (MedGen UID: 908562).
The RTEL1 gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 901644).
The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (SPG12) (MedGen UID: 347618).
The RTN4IP1 gene is associated with autosomal recessive optic atrophy (MedGen: 905727).
The RTTN gene is associated with autosomal recessive microcephaly, short stature, and polymicrogyria with or without seizures (MedGen UID: 766745).
The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).
The RUNX2 gene is associated with autosomal dominant cleidocranial dysplasia (CCD) (MedGen UID: 3486) and autosomal dominant metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MedGen UID: 762788). Additionally, the RUNX2 gene has preliminary evidence supporting a correlation with craniosynostosis (PMID: 20683987, 17621648, 23348268).
The RUSC2 gene is associated with autosomal recessive syndromic intellectual disability (MedGen UID: 1622296).
The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).
The RYR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant neurodevelopmental conditions including epileptic encephalopathy and autism spectrum disorder (PMID: 25262651, 28191890).
The S1PR2 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 324374).
The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620).
The SAG gene is associated with autosomal recessive Oguchi disease type 1 (MedGen UID: 224927) and autosomal dominant retinitis pigmentosa (PMID: 28549094).
The SALL1 gene is associated with autosomal dominant Townes-Brocks syndrome (MedGen UID: 75555). Additionally, the SALL1 gene has preliminary evidence supporting a correlation with autosomal recessive Townes-Brocks syndrome (PMID: 23069192).
The SALL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with coloboma (PMID: 24412933).
The SALL4 gene is associated with a spectrum of autosomal dominant SALL4-related disorders: Duane-radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and Holt-Oram syndrome (HOS) (MedGen UID: 301647, 831194, 833793). Additionally, the SALL4 gene has preliminary evidence supporting a correlation with autosomal recessive microphthalmia, anophthalmia, coloboma spectrum (MAC) (PMID: 27661448).
The SAMD11 gene is associated with autosomal recessive retinitis pigmentosa (PMID: 27734943). Additionally, the SAMD11 gene has preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 27734943).
The SAMD9L gene is associated with autosomal dominant ataxia-pancytopenia (AP) syndrome (MedGen UID: 230896) and systemic autoinflammatory disease (PMID: 34417303, 31874111).
The SAMHD1 gene is associated with autosomal recessive Aicardi-Goutieres syndrome 5 (AGS5) (MedGen UID 413116).
The SARS2 gene is associated with autosomal recessive hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRA) syndrome (MedGen UID: 462559). Additionally, the SARS2 gene has preliminary evidence supporting a correlation with autosomal recessive progressive spastic paresis (PMID: 28716262, 27279129).
The SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765).
The SC5D gene is associated with autosomal recessive lathosterolosis (MedGen UID: 375885).
The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629).
The SCARF2 gene is associated with autosomal recessive Van den Ende-Gupta syndrome (MedGen UID: 322127).
The SCLT1 gene is associated with autosomal recessive orofaciodigital syndrome IX (OFD9) (PMID: 24285566, 27894351) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28005958). Additionally, the SCLT1 gene has preliminary evidence supporting a correlation with autosomal recessive Senior-Loken syndrome (PMID: 30425282).
The SCN1A gene is associated with a spectrum of autosomal dominant and autosomal recessive seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). The SCN1A gene is also associated with autosomal dominant familial hemiplegic migraine 3 (FHM3) (MedGen UID: 400655) and autosomal dominant arthrogryposis multiplex congenita (AMC) (PMID: 32928894).
The SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1376462). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), and cardiac conduction disease (PMID: 18464934).
The SCN2A gene is associated with autosomal dominant benign familial neonatal-infantile seizures (BFNIS) (MedGen UID: 375105), developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462337), episodic ataxia (PMID: 20956790, 26645390), intellectual disability (ID) (PMID: 23020937) and autism spectrum disorder (ASD) (PMID: 22495306).
The SCN3A gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1631233) and childhood onset epilepsy (MedGen UID: 910257).
The SCN4A gene is associated with autosomal dominant hypokalemic periodic paralysis type 2 (HOKPP2) (MedGen UID: 413748), hyperkalemic periodic paralysis (HYPP) (MedGen UID: 68665), paramyotonia congenita (PMC) (MedGen UID: 113142), and potassium-aggravated myotonia (MedGen UID: 444151). It is also associated with autosomal dominant and autosomal recessive congenital myopathy (PMID: 26700687, 32117035) and there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 16 (CMS16) (MedGen UID: 481742).
The SCN5A gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 468523), long QT syndrome (LQTS), type 3 (MedGen UID: 349087), dilated cardiomyopathy (DCM) (MedGen UID: 331341) and atrial fibrillation (MedGen UID: 462814) and more severe, early-onset autosomal recessive conditions (MedGen UID: 325270, PMID: 35052356, 17442746, 20950709, 20564468, 32850980). Other SCN5A-related conditions have been reported (OMIM: 600163).
The SCN8A gene is associated with a spectrum of autosomal dominant seizure disorders ranging from benign familial neonatal seizures (MedGen UID: 934695), epilepsy with mild cognitive impairment (PMID: 30968951, 32651551) to developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 482821). The SCN8A gene is also associated with autosomal dominant familial myoclonus 2 (MYOCL2) (MedGen UID: 1683864).
The SCN9A gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 503203), primary erythromelalgia (MedGen UID: 8688), small fiber neuropathy (SFNP) (MedGen UID: 416701), and paroxysmal extreme pain disorder (PEXPD) (MedGen UID: 331565). The SCN9A gene is also associated with autosomal recessive congenital indifference to pain (CIP), also referred to as hereditary sensory and autonomic neuropathy type 2D (HSAN2D) (MedGen UID: 344563).
The SCNN1A gene is associated with autosomal recessive pseudohypoaldosteronism type 1 (MedGen UID: 258573). Additionally, the SCNN1A gene has preliminary evidence supporting a correlation with bronchiectasis (PMID: 19462466, 19017867) and Brugada syndrome (PMID: 25339316).
The SCNN1B gene is associated with autosomal dominant Liddle syndrome (MedGen UID: 67439) and autosomal recessive pseudohypoaldosteronism type 1 (MedGen UID: 258573). Additionally, the SCNN1B gene has preliminary evidence supporting a correlation with autosomal dominant bronchiectasis (PMID: 16207733, 18507830).
The SCNN1G gene is associated with autosomal dominant Liddle syndrome (MedGen UID: 67439) and autosomal recessive pseudohypoaldosteronism type 1 (MedGen UID: 258573).
The SCO1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (also referred to as cytochrome-c oxidase deficiency) (MedGen UID: 75662).
The SCO2 gene is associated with autosomal recessive cardioencephalomyopathy due to mitochondrial complex IV deficiency (MedGen UID: 346817). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (PMID: 29351582) and fatal infantile hyperthermia (PMID: 23364397).
The SCP2 gene is associated with autosomal recessive leukoencephalopathy with dystonia and motor neuropathy (MedGen UID: 462340). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (PMID: 33713422).
The SDCCAG8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and Senior-Loken syndrome (MedGen UID: 462227).
The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 481622), and autosomal dominant and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHA gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 26722403) and pituitary adenomas (PMID: 26259135, 32621582).
The SDHAF1 gene is associated with autosomal recessive infantile leukoencephalopathy (MedGen UID: 344401).
The SDHAF2 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 357076).
The SDHB gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 349380) and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHB gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pituitary adenomas (PMID: 26259135).
The SDHC gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 340200). Additionally, the SDHC gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pituitary adenomas (PMID: 26259135, 32621582).
The SDHD gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 358258) and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHD gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 19802898, 23083876) and pituitary adenomas (PMID: 26259135).
The SDR9C7 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen UID: 1620886).
The SEC24D gene is associated with autosomal recessive Cole-Carpenter syndrome (MedGen UID: 905199).
The SEC61A1 gene is associated with autosomal dominant tubulointerstitial kidney disease (MedGen UID: 934708) and autosomal dominant plasma cell deficiency (PMID: 28782633).
The SEC63 gene is associated with autosomal dominant polycystic liver disease (MedGen UID: 165781).
The SEMA3A gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766935) and autosomal recessive syndromic short stature (PMID: 24124006, 28075028, 33369061).
The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).
The SEMA4A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 16199541, 26856745) and cone-rod dystrophy (PMID: 26103963).
The SEPSECS gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 2D (MedGen UID: 462490).
The SERAC1 gene is associated with autosomal recessive 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome (MedGen UID: 766511).
The SERPINB6 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 462054).
The SERPINB7 gene is associated with autosomal recessive Nagashima-type palmoplantar keratoderma (MedGen UID: 816402).
The SERPINB8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive exfoliative ichthyosis (PMID: 27476651).
The SERPINF1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 481194).
The SERPINH1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 462561).
The SERPINI1 gene is associated with autosomal dominant familial encephalopathy with neuroserpin inclusion bodies (FENIB) (MedGen UID: 346965).
The SETBP1 gene is associated with autosomal dominant Schinzel-Giedion syndrome (SGS) (MedGen UID: 120517) and intellectual disability (MedGen UID: 863578).
The SETD2 gene is associated with autosomal dominant Luscan-Lumish syndrome (LLS) (MedGen UID: 898669) and autosomal dominant Rabin-Pappas syndrome (RAPAS) (MedGen UID: 1824042).
The SETD5 gene is associated with an autosomal dominant neurodevelopmental syndrome (MedGen UID: 816736).
The SF3B4 gene is associated with autosomal dominant acrofacial dysostosis (MedGen UID: 120519).
The SFRP4 gene is associated with autosomal recessive Pyle metaphyseal dysplasia (MedGen UID: 82704).
The SFTPB gene is associated with autosomal recessive surfactant protein B deficiency (MedGen UID: 368844).
The SFTPC gene is associated with autosomal dominant surfactant protein C (SP-C) deficiency (MedGen UID: 410078).
The SGCE gene is associated with autosomal dominant dystonia (DYT11) (MedGen UID: 331778) and autosomal dominant generalized epilepsy (PMID: 15389977, 24297365).
The SGMS2 gene is associated with autosomal dominant doughnut lesion of calvaria and bone fragility syndrome (MedGen UID: 377572).
The SGPL1 gene is associated with autosomal recessive nephrotic syndrome type 14 (NPHS14) (MedGen UID: 1617660). Additionally, the SGPL1 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (PMID: 28077491).
The SGSH gene is associated with autosomal recessive mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome A (MedGen UID: 39264).
The SH3PXD2B gene is associated with autosomal recessive Frank-Ter Haar syndrome (FTHS) (MedGen UID: 383652).
The SH3TC2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C) (MedGen UID: 356581).
The SHH gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 327125).
The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 1379805), which is one of the RASopathies (MedGen UID: 1792298).
The SHPK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with sedoheptulokinase deficiency (MedGen UID: 713680).
The SI gene is associated with autosomal recessive sucrase-isomaltase deficiency (MedGen UID: 220924).
The SIK1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 898954).
The SIL1 gene is associated with autosomal recessive Marinesco-Sjogren syndrome (MSS) (MedGen UID: 6222).
The SIN3A gene is associated with autosomal dominant Witteveen-Kolk syndrome (MedGen UID: 934771).
The SIPA1L3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (MedGen UID: 895198; PMID: 25804400) and West syndrome (PMID: 29667327).
The SIX1 gene is associated with autosomal dominant branchiootorenal spectrum disorders (MedGen UID: 333995).
The SIX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant frontonasal dysplasia (PMID: 26581443, 29315086), congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 18305125, 29194579), and autism spectrum disorder (PMID: 28407358).
The SIX3 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 322517).
The SIX5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with branchio-oto-renal syndrome 2 (MedGen UID: 410081).
The SIX6 gene is associated with autosomal recessive optic disc anomalies with retinal and/or macular dystrophy (ODRMD) (PMID: 23167593, 24702266).
The SKI gene is associated with autosomal dominant Shprintzen-Goldberg syndrome (MedGen UID: 231160).
The SLC12A1 gene is associated with autosomal recessive Bartter syndrome type 1 (MedGen UID: 355727).
The SLC12A2 gene is associated with autosomal dominant nonsyndromic deafness (PMID: 32294086), autosomal dominant Delpire-McNeill syndrome (PMID: 32658972), and autosomal recessive Kilquist syndrome (MedGen UID: 976203).
The SLC12A3 gene is associated with autosomal recessive Gitelman syndrome (MedGen UID: 75681).
The SLC12A5 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 899149).
The SLC12A6 gene is associated with autosomal dominant Charcot-Marie-Tooth disease (PMID: 31439721) and autosomal recessive agenesis of the corpus callosum with peripheral neuropathy (ACCPN), also known as Andermann syndrome (MedGen UID: 162893).
The SLC13A3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) (MedGen UID: 941317).
The SLC13A5 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863058).
The SLC16A12 gene is associated with autosomal dominant juvenile cataract with microcornea (MedGen UID: 934773).
The SLC16A2 gene is associated with X-linked SLC16A2-specific thyroid hormone cell transporter deficiency, also known as hereditary spastic paraplegia 22 (SPG22) and Allan-Herndon-Dudley syndrome (AHDS) (MedGen UID: 208645).
The SLC17A5 gene is associated with autosomal recessive sialic acid storage disorders including infantile free sialic acid storage disease (ISSD) (MedGen UID: 203367) and Salla disease (MedGen UID: 203368).
The SLC17A8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 344221).
The SLC18A2 gene is associated with autosomal recessive brain dopamine-serotonin vesicular transport disease (MedGen UID: 929215).
The SLC19A3 gene is associated with autosomal recessive thiamine metabolism dysfunction syndrome 2 (THMD2), also known as biotin-responsive basal ganglia disease (BBGD) (MedGen UID: 375289).
The SLC1A2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934684).
The SLC1A3 gene is associated with autosomal dominant episodic ataxia type 6 (EA6) (MedGen UID: 390739). Additionally, the SLC1A3 gene has preliminary evidence supporting a correlation with autosomal dominant developmental delay and/or autism (PMID: 27296938).
The SLC1A4 gene is associated with autosomal recessive spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) (MedGen UID: 900192). Additionally, the SLC1A4 gene has preliminary evidence supporting a correlation with autosomal dominant spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) (PMID: 37194416).
The SLC20A2 gene is associated with autosomal dominant primary basal ganglia calcification 1 (BGC1) (MedGen UID: 1637664).
The SLC22A12 gene is associated with autosomal recessive renal hypouricemia (MedGen UID: 141632).
The SLC22A4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with nonsyndromic deafness (PMID: 27023905).
The SLC24A1 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID:462543). Additionally, the SLC24A1 gene has preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 12037007).
The SLC24A5 gene is associated with autosomal recessive oculocutaneous albinism (OCA) (MedGen UID: 811705).
The SLC25A1 gene is associated with autosomal recessive combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) (MedGen UID: 412535) and congenital myasthenic syndrome (MedGen UID: 1648392).
The SLC25A11 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to paraganglioma and pheochromocytoma (PMID: 29431636).
The SLC25A12 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 414492).
The SLC25A15 gene is associated with autosomal recessive hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (MedGen UID: 82815).
The SLC25A19 gene is associated with autosomal recessive microcephaly, Amish type (MCPHA; AKA THMD3) (MedGen UID: 375938) and autosomal recessive thiamine metabolism dysfunction syndrome-4 (THMD4) (MedGen UID: 462323).
The SLC25A22 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 124373).
The SLC25A24 gene is associated with autosomal dominant Fontaine progeroid syndrome (MedGen UID: 394125).
SLC25A4 is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOA2) (MedGen UID: 322925), autosomal dominant mitochondrial DNA depletion syndrome (MTDPS12A) (MedGen UID: 934643) and autosomal recessive mitochondrial DNA depletion syndrome (MTDPS12B) (MedGen UID: 815773).
The SLC25A42 gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 941419).
The SLC25A46 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 6B (CMT6B), also known as hereditary motor and sensory neuropathy type 6B (HMSN6B) (MedGen UID: 895482) and pontocerebellar hypoplasia (PCH) (PMID: 28653766, 27543974).
The SLC26A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive calcium oxalate urolithiasis or nephrolithiasis (MedGen UID: 318935, PMID: 27210743) or epileptic encephalopathy (PMID: 22190369).
The SLC26A2 gene is associated with autosomal recessive achondrogenesis, type IB (ACG1B) (MedGen UID: 78547), atelosteogenesis type 2 (AO2) (MedGen UID: 338072), diastrophic dysplasia (DTD) (MedGen UID: 113103), and multiple epiphyseal dysplasia 4 (EDM4) (MedGen UID: 376164).
The SLC26A4 gene is associated with autosomal recessive Pendred syndrome (PDS) (MedGen UID: 82890) and deafness with enlarged vestibular aqueduct (MedGen UID: 761234).
The SLC26A5 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 462580).
The SLC27A4 gene is associated with autosomal recessive ichthyosis prematurity syndrome (MedGen UID: 324839).
The SLC29A3 is associated with autosomal recessive histiocytosis-lymphadenopathy plus syndrome (MedGen UID: 400532) and dysosteosclerosis (PMID: 22875837, 30537558).
The SLC2A1 gene is associated with a spectrum of overlapping autosomal dominant and recessive conditions which fall under the umbrella term of glucose transporter type 1 deficiency syndrome (Glut1 DS) (MedGen UID: 1645412).
The SLC2A10 gene is associated with autosomal recessive arterial tortuosity syndrome (MedGen UID: 347942).
The SLC2A2 gene is associated with autosomal recessive Fanconi-Bickel syndrome (MedGen UID: 501176).
The SLC2A9 gene is associated with autosomal recessive familial hypouricemia (MedGen UID: 141632). There is also preliminary evidence supporting a correlation with autosomal dominant familial hypouricemia (MedGen UID: 436974).
The SLC30A10 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 412958).
The SLC30A7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Joubert syndrome (PMID: 28327206, 35751429) and with an autosomal recessive condition characterized by short stature, testicular hypoplasia, and bone marrow failure (PMID: 36821639).
The SLC33A1 gene is associated with autosomal recessive congenital cataracts, hearing loss, and neurodegeneration (MedGen UID: 482595). Additionally, the SLC33A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 42 (SPG42) (MedGen UID: 393407).
The SLC34A1 gene is associated with autosomal recessive infantile hypercalcemia (MedGen UID: (934441). Additionally, the SLC34A1 gene has preliminary evidence supporting a correlation with autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis (MedGen UID: 436776) and autosomal recessive fanconi renotubular syndrome (MedGen UID: 462002).
The SLC34A2 gene is associated with autosomal recessive pulmonary alveolar microlithiasis (MedGen UID: 56374).
The SLC34A3 gene is associated with autosomal recessive hereditary hypophosphatemic rickets with hypercalciuria (HHRH) (MedGen UID: 501133). Additionally, the SLC34A3 gene has preliminary evidence supporting a correlation with hypercalciuria with reduced penetrance (PMID: 16358214, 22387237, 29809158).
The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018).
The SLC35A3 gene is associated with autosomal recessive arthrogryposis, intellectual disability, and seizures (MedGen UID: 816240).
The SLC35D1 gene is associated with autosomal recessive Schneckenbecken dysplasia (SBD) (MedGen UID: 98475).
The SLC36A2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive iminoglycinuria (MedGen UID: 124342) and autosomal dominant hyperglycinuria (MedGen UID: 107456).
The SLC37A4 gene is associated with autosomal recessive glycogen storage disease type Ib (GSD Ib) (MedGen UID: 78644) and autosomal dominant SLC37A4-CDG (also known as congenital disorder of glycosylation type IIw or CDG2w) (PMID: 32884905).
The SLC38A8 gene is associated with autosomal recessive foveal hypoplasia (MedGen UID: 814203).
The SLC39A13 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 3 (MedGen UID: 393515).
The SLC39A14 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 934732). Additionally, the SLC39A14 gene has preliminary evidence supporting a correlation with autosomal dominant hyperostosis carnialis interna (MedGen UID: 327093).
The SLC39A8 gene is associated with autosomal recessive SLC39A8-congenital disorder of glycosylation (CDG IIn) (MedGen UID: 852046).
The SLC3A1 gene is associated with autosomal recessive cystinuria (MedGen UID: 8226). Contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria deletion syndrome (MedGen UID: 341133).
The SLC41A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 23661805).
The SLC44A4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hearing loss (MedGen UID: 1614203).
The SLC45A2 gene is associated with autosomal recessive oculocutaneous albinism type 4 (OCA4) (MedGen UID: 338324).
The SLC46A1 gene is associated with autosomal recessive hereditary folate malabsorption (MedGen UID: 83348).
The SLC4A1 gene is associated with autosomal dominant distal renal tubular acidosis (dRTA) (MedGen UID: 78060), autosomal recessive dRTA with haemolytic anemia (MedGen UID: 409736), autosomal dominant Southeast Asian ovalocytosis (SAO) (MedGen UID: 322256) and autosomal dominant hereditary spherocytosis (MedGen UID: 52450). Additionally, the SLC4A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary stomatocytosis (PMID: 21255002, 19644137, 21209359).
The SLC4A11 gene is associated with autosomal recessive corneal endothelial dystrophy 2 (CHED2) (MedGen UID: 387857) and corneal dystrophy and perceptive deafness (CDPD) (MedGen UID: 387858). Additionally, the SLC4A11 gene has preliminary evidence supporting a correlation with autosomal dominant Fuchs corneal dystrophy (FCD) (PMID: 23585771).
The SLC4A4 gene is associated with autosomal recessive proximal renal tubular acidosis (MedGen UID: 370883). Additionally, the SLC4A4 gene has preliminary evidence supporting a correlation with keratopathy (PMID: 29671668, 28754144).
The SLC52A2 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 2 [BVVLS2]) (MedGen UID: 766452).
The SLC52A3 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 1 [BVVLS1]) (MedGen UID: 881160).
The SLC5A1 gene is associated with autosomal recessive glucose-galactose malabsorption (GGM) (MedGen UID: 78647).
The SLC6A1 gene is associated with autosomal dominant SLC6A1-related neurodevelopmental disorder (MedGen UID: 905978).
The SLC6A19 gene is associated with autosomal recessive Hartnup disorder (MedGen UID: 6723).
The SLC6A3 gene is associated with autosomal recessive infantile parkinsonism-dystonia 1 (PKDYS1) (MedGen UID: 1648442).
The SLC6A5 gene is associated with autosomal recessive hyperekplexia (MedGen UID: 766202).
The SLC6A8 gene is associated with X-linked recessive creatine transporter deficiency (CTD) (MedGen UID: 337451).
The SLC6A9 gene is associated with autosomal recessive glycine encephalopathy with normal serum glycine (MedGen UID: 909928).
The SLC7A14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 24670872).
The SLC7A7 gene is associated with autosomal recessive lysinuric protein intolerance (LPI) (MedGen UID: 75704).
The SLC7A9 gene is associated with autosomal recessive cystinuria type B, formerly known as non-type 1 cystinuria (MedGen UID: 8226). Autosomal dominant inheritance with reduced penetrance has also been reported (PMID:1157794, 25296721).
The SLC9A1 gene is associated with autosomal recessive Lichtenstein-Knorr syndrome (LIKNS) (MedGen UID: 898996). Additionally, the SLC9A1 gene has preliminary evidence supporting a correlation with autosomal dominant intellectual disability (PMID: 25590979).
The SLC9A3R1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypophosphatemic nephrolithiasis and osteoporosis (PMID: 25296721, 28893421).
The SLC9A6 gene is associated with Christianson syndrome, also known as X-linked dominant Angelman-like syndrome (MedGen UID: 394455).
The SLCO2A1 gene is associated with autosomal recessive primary hypertrophic osteoarthropathy (PHOAR1) (MedGen UID: 482430) and chronic enteropathy associated with the SLCO2A1 gene, also known as cryptogenic multifocal ulcerous stenosing enteritis (CEAS/CMUSE) (MedGen UID: 1800261). Additionally, the SLCO2A1 gene has preliminary evidence supporting a correlation with a mild, autosomal dominant form of primary hypertrophic osteoarthropathy (PMID: 33852188).
The SLCO5A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with mesomelia-synostoses syndrome (MedGen UID: 463378).
The SLIT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 26026792), Kallmann syndrome (PMID: 30098700) and syndromic ocular anomalies (PMID: 30111362, 27513193).
The SLITRK6 gene is associated with autosomal recessive deafness and myopia syndrome (MedGen UID: 812605).
The SLURP1 gene is associated with autosomal recessive Mal de Meleda (MDM)(MedGen UID: 7522).
The SLX4 gene is associated with autosomal recessive Fanconi anemia, type P (FA-P) (MedGen UID: 450103).
The SMAD2 gene is associated with autosomal dominant Loeys-Dietz syndrome (PMID: 29392890, 26247899) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (PMID: 26247899). Additionally, the SMAD2 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 23665959).
The SMAD3 gene is associated with autosomal dominant Loeys-Dietz syndrome 3 (LDS3) (MedGen UID: 462437) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 1644766).
The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518), hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400), familial thoracic aortic aneurysm and aortic dissection (TAAD) (MedGen UID: 1644766), and Myhre syndrome (MedGen UID: 167103).
The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease (MedGen UID: 762200), craniosynostosis (MedGen UID: 1392447), syndromic structural heart defects (PMID: 22275001), and radioulnar synostosis (RUS) (PMID: 31138930).
The SMARCA2 gene is associated with autosomal dominant Nicolaides-Baraitser syndrome (NBS) (MedGen UID: 220983).
The SMARCA4 gene is associated with rhabdoid tumor predisposition syndrome, type 2 (RTPS2), autosomal dominant small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (PMID: 24658002, 24658001), and Coffin-Siris syndrome (CSS) (MedGen UID: 766163).
The SMARCAL1 gene is associated with autosomal recessive Schimke immunoosseous dysplasia (SIOD) (MedGen UID: 164078).
The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892), schwannomatosis (MedGen UID: 234775), and Coffin-Siris syndrome (CSS) (MedGen UID: 766162).
The SMARCE1 gene is associated with autosomal dominant familial meningioma (MedGen UID: 232281) and Coffin-Siris syndrome (MedGen UID: 934755).
The SMC1A gene is associated with X-linked dominant Cornelia de Lange syndrome (MedGen UID: 315658), early infantile epileptic encephalopathy (EIEE) (PMID: 26386245, 27334371, 26358754) and holoprosencephaly (HPE) (PMID: 28166369, 31334757).
The SMC3 gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 339902).
The SMCHD1 gene is associated with digenic inheritance of facioscapulohumeral muscular dystrophy 2 (FSHD2) (MedGen UID: 320405) with D4Z4 hypomethylation (permissive 4qA allele), and autosomal dominant Bosma arhinia microphthalmia syndrome (BAMS) (MedGen UID: 355084).
The SMOC1 gene is associated with autosomal recessive ophthalmo-acromelic syndrome (MedGen UID: 154638).
The SMOC2 gene is associated with autosomal recessive dentin dysplasia (MedGen UID: 97996).
The SMPX gene is associated with X-linked nonsyndromic deafness (MedGen UID: 376307) and distal myopathy (PMID: 33974137).
The SNAI2 gene is associated with autosomal recessive Waardenburg syndrome type 2D (WS2D) (MedGen UID: 323102), and autosomal dominant piebaldism (MedGen UID: 36361).
The SNAP25 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 26795593, 25003006, 29100083), and congenital myasthenic syndrome (MedGen UID: 906793).
The SNAP29 gene is associated with autosomal recessive cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome (MedGen UID: 332113).
The SNIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive disorder of psychomotor impairment, epilepsy, and craniofacial dysmorphism (PMID: 22279524).
The SNORD118 gene is associated with autosomal recessive leukoencephalopathy with brain calcifications and cysts (LCC) (MedGen UID: 482830).
The SNRNP200 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 332080) and autosomal recessive retinitis pigmentosa (PMID: 31260034).
The SNRPB gene is associated with autosomal dominant cerebro-costo-mandibular syndrome (MedGen UID: 120537).
The SNRPE gene is associated with autosomal dominant hereditary hypotrichosis simplex (MedGen UID: 767323).
The SNX10 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 767392).
The SNX14 gene is associated with autosomal recessive spinocerebellar ataxia 20 (SCAR20) (MedGen UID: 903867).
The SNX27 gene is associated with autosomal recessive syndromic epilepsy (PMID: 25894286).
The SOD1 gene is associated with autosomal dominant and recessive amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169). One SOD1 variant has been associated with autosomal recessive progressive spastic tetraplegia and axial hypotonia (STAHP) (MedGen UID: 1684731).
The SON gene is associated with autosomal dominant Zhu-Tokita-Takenouchi-Kim syndrome (ZTTKS) (MedGen UID: 934663).
The SOS1 gene is associated with autosomal dominant Noonan spectrum disorders (MedGen UID: 339908) and hereditary gingival fibromatosis (PMID: 11868160).
The SOS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 896352), which is one of the RASopathies (MedGen UID: 1792298).
The SOST gene is associated with autosomal recessive sclerosing bone dysplasias including sclerosteosis and van Buchem disease (VBD) (MedGen UID: 1642815). Additionally, the SOST gene has preliminary evidence supporting a correlation with autosomal dominant craniodiaphyseal dysplasia (CDD) (MedGen UID: 382678).
The SOX10 gene is associated with autosomal dominant Waardenburg syndrome type 4C and 2E (MedGen UID: 413310 and 398476), Kallman syndrome (PMID: 33442024), and PCWH (peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease) syndrome (MedGen UID: 373160).
The SOX11 gene is associated with autosomal dominant Coffin-Siris syndrome (CSS) (MedGen UID: 862965).
The SOX17 gene is associated with autosomal dominant pulmonary arterial hypertension (PMID: 29650961, 24418654). Additionally, the SOX17 gene has preliminary evidence supporting a correlation with autosomal dominant vesicoureteral reflux (MedGen UID: 462277).
The SOX18 gene is associated with autosomal dominant hypotrichosis-lymphadema-telangiectasia syndrome (HLTS) (MedGen UID: 375070). Additionally, the SOX18 gene has preliminary evidence supporting a correlation with autosomal recessive hypotrichosis-lymphadema-telangiectasia syndrome (HLTS) (MedGen UID: 375070).
The SOX2 gene is associated with autosomal dominant syndromic microphthalmia (MedGen UID: 347232) and a developmental disorder without microphthalmia (PMID: 34562068).
The SOX3 gene is associated with X-linked panhypopituitarism (MedGen UID: 87439).
The SOX6 gene is associated with autosomal dominant Tolchin-Le Caignec syndrome (MedGen UID: 977193).
The SOX9 gene is associated with autosomal dominant campomelic dysplasia (MedGen UID: 354620).
The SP7 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 462783).
The SPAG1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 816036).
The SPARC gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 903845). Additionally, the SPARC gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).
The SPART gene (formerly known as SPG20) is associated with autosomal recessive hereditary spastic paraplegia 20 (SPG20), also known as Troyer syndrome (MedGen UID: 97950).
The SPAST gene is associated with autosomal dominant hereditary spastic paraplegia 4 (SPG4) (MedGen UID: 401097).
The SPATA5 gene is associated with autosomal recessive epilepsy, hearing loss, and intellectual disability syndrome (EHLIDS) (MedGen UID: 851728).
The SPATA7 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 346964), and retinitis pigmentosa (RP) (MedGen UID: 20551).
The SPECC1L gene is associated with a spectrum of autosomal dominant conditions including Teebi hypertelorism syndrome (MedGen UID: 208673) and Opitz GBBB syndrome (MedGen UID: 321463).
The SPG11 gene is associated with autosomal recessive hereditary spastic paraplegia 11 (SPG11) (MedGen UID: 388073), juvenile amyotrophic lateral sclerosis 5 (ALS5) (MedGen UID: 356388) and Charcot-Marie-Tooth disease type 2X (CMT2X) (MedGen UID: 895625).
The SPG21 gene (also known as ACP33), is associated with autosomal recessive hereditary spastic paraplegia 21 (SPG21), also known as Mast syndrome (MedGen UID: 343325).
The SPG7 gene is associated with autosomal dominant optic atrophy (PMID: 23065789, 32548275, 36367250) and autosomal recessive hereditary spastic paraplegia 7 (SPG7) (MedGen UID: 339552).
The SPINK1 gene is associated with autosomal dominant predisposition to hereditary pancreatitis (MedGen UID: 116056).
The SPINK5 gene is associated with autosomal recessive Netherton syndrome (MedGen UID: 78578).
The SPP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (RP) (PMID: 26459573).
The SPR gene is associated with autosomal recessive sepiapterin reductase deficiency (MedGen UID: 120642). Additionally, the SPR gene has preliminary evidence supporting a correlation with autosomal dominant dopa-responsive dystonia (PMID: 15241655).
The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).
The SPRY4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism (PMID: 31200363).
The SPTAN1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462081), hereditary motor neuropathy (PMID: 31332438), and spastic paraplegia and cerebellar ataxia (PMID: 35150594). Additionally, the SPTAN1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 31515523).
The SPTBN2 gene is associated with autosomal dominant spinocerebellar ataxia 5 (SCA5) (MedGen UID: 155705) and autosomal recessive spinocerebellar ataxia 14 (SCAR14) (MedGen UID: 815657).
The SQSTM1 gene is associated with a spectrum of overlapping autosomal dominant neurological conditions including Paget disease of bone 3 (PDB3) (MedGen UID: 895927), distal myopathy with rimmed vacuoles (DMRV) (MedGen UID: 893965), and frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) (MedGen UID: 897127). The SQSTM1 gene is also associated with autosomal recessive neurodegeneration with ataxia, dystonia and gaze palsy (NADGP) (MedGen UID: 934660).
The SRA1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with idiopathic hypogonadotropic hypogonadism (IHH) (PMID: 27086651).
The SRCAP gene is associated with autosomal dominant Floating-Harbor syndrome (FHS) (MedGen UID: 152667) and an autosomal dominant neurodevelopmental disorder (PMID: 33909990).
The SRD5A2 gene is associated with autosomal recessive steroid 5-alpha-reductase deficiency (MedGen UID: 75667).
SRD5A3 is associated with autosomal recessive SRD5A3-congenital disorder of glycosylation (CDG-Iq) (MedGen UID 461541).
The SRPX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked recessive intellectual disability (PMID: 30393191, 25167861).
The SRY gene is associated with disorders of sex development (MedGen UID: 412662, 411324).
The SSR4 gene is associated with X-linked SSR4-CDG (CDG type 1y) (MedGen UID: 799560).
The ST14 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 332073).
The ST3GAL3 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 767230).
The ST3GAL5 gene is associated with autosomal recessive GM3 synthase deficiency (MedGen UID: 323005).
The STAG1 gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 1622196).
The STAG2 gene is associated with X-linked Mullegama-Klein-Martinez syndrome (MedGen UID: 1683985) and X-linked holoprosencephaly-13 (HPE13) (MedGen UID: 1714826).
The STAMBP gene is associated with autosomal recessive microcephaly-capillary malformation syndrome (MICCAP) (MedGen UID: 481926).
The STAR gene is associated with autosomal recessive congenital lipoid adrenal hyperplasia (MedGen UID: 83341).
The STAT1 gene is associated with autosomal recessive STAT1 deficiency (MedGen UID: 462438), autosomal dominant Mendelian susceptibility to mycobacterial disease (MedGen UID: 862387), and autosomal dominant STAT1 gain-of-function associated chronic mucocutaneous candidiasis (MedGen UID: 481620).
The STAT2 gene is associated with autosomal recessive STAT2 deficiency (MedGen UID: 904009) and autosomal recessive type I interferonopathy (MedGen UID: 1708513).
The STAT3 gene is associated with autosomal dominant Hyper-IgE syndrome (MedGen UID: 483748) and autosomal dominant STAT3 gain-of-function (MedGen UID: 925793).
The STIL gene is associated with autosomal recessive primary microcephaly (MedGen UID: 436370).
The STK11 gene is associated with autosomal dominant Peutz-Jeghers syndrome (PJS) (MedGen UID: 18404).
The STN1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (MedGen UID: 1390862).
The STRA6 gene is associated with autosomal recessive isolated microphthalmia 8 with coloboma (MCOPCB8) (MedGen UID: 761921) and syndromic microphthalmia 9 (MCOPS9) (MedGen UID: 318679).
The STRADA gene is associated with autosomal recessive polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome (MedGen UID: 370203).
The STS gene is associated with X-linked ichthyosis (MedGen UID: 86937).
The STUB1 gene is associated with autosomal recessive spinocerebellar ataxia 16 (SCAR16) (MedGene UID: 862698) and autosomal dominant spinocerebellar ataxia (MedGen UID: 1648409).
The STX11 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 4 (FHL4) (MedGen UID: 350245).
The STX16 gene is associated with autosomal dominant pseudohypoparathyroidism type 1b (PMID: 15537666, 23087324). Parent-of-origin inheritance impacts the manifestation of disease in STX16.
The STX1B gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus, type 9 (GEFS+9) (MedGen UID: 863832).
The STXBP1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 436917). Additionally, the STXBP1 gene has preliminary evidence supporting a correlation with autism spectrum disorders (PMID: 22495311, 26537360).
The STXBP2 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 5 (FHL5) (MedGen UID: 416514). There is also preliminary evidence supporting a correlation with autosomal dominant familial hemophagocytic lymphohistiocytosis (PMID: 25564401).
The SUCLA2 gene is associated with autosomal recessive succinate-CoA ligase deficiency, a mitochondrial DNA depletion syndrome (MedGen UID: 413170).
The SUCLG1 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 9 (MTDPS9) (MedGen UID: 462826).
The SUCLG2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 34415331) and autosomal recessive mitochondrial DNA depletion syndrome (PMID: 21295139, 18392745).
The SUCO gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with osteogenesis imperfecta (PMID: 29620724).
The SUFU gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554), congenital ocular motor apraxia (COMA) (PMID: 33024317), and autosomal recessive Joubert syndrome (MedGen UID: 1626697).
The SULF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with mesomelia-synostoses syndrome (MSS) (PMID: 20602915).
The SULT2B1 gene is associated with autosomal recessive congenital ichthyosis (PMID: 28575648, 30578701).
The SUMF1 gene is associated with autosomal recessive multiple sulfatase deficiency (MSD) (MedGen UID: 75664).
The SUOX gene is associated with autosomal recessive sulfite oxidase deficiency (MedGen UID: 78695).
The SURF1 gene is associated with autosomal recessive Leigh syndrome due to mitochondrial complex IV deficiency (MedGen UID: 44095) and Charcot-Marie-Tooth disease, type 4K (CMT4K) (MedGen UID:895560).
The SYN1 gene is associated with X-linked epilepsy with variable learning disabilities and behavior disorders (MedGen UID: 337214).
The SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973) and myogenic-type arthrogryposis multiplex congenita 3 (AMC3) (MedGen UID: 1680655). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 4 (EDMD4) (MedGen UID: 414476) and dilated cardiomyopathy (PMID: 19944109, 17761684).
The SYNE4 gene is associated with autosomal recessive deafness 76 (DFNB76) (MedGen UID: 811137).
The SYNGAP1 gene is associated with autosomal dominant intellectual disability (MedGen UID: 382611) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 968420).
The SYNJ1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1374886) and early-onset Parkinson disease 20 (PARK20) (MedGen UID: 816154).
The SYNPO gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant focal segmental glomerulosclerosis (PMID: 19666657).
The SZT2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815954). Additionally, the SZT2 gene has preliminary evidence supporting a correlation with autosomal recessive intellectual disability (PMID: 24324832).
The TAB2 gene is associated with autosomal dominant polyvalvular syndrome (PMID: 28464518, 29700987, 34456334, 28386937) and frontometaphyseal dysplasia (FMD) (PMID: 28498505).
The TAC3 gene is associated with autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) (MedGen UID: 766757).
The TACO1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The TACR3 gene is associated with autosomal recessive hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 766758).
The TACSTD2 gene is associated with autosomal recessive gelatinous drop-like corneal dystrophy (GDLD) (MedGen UID: 90939).
The TAF1 gene is associated with X-Linked syndromic intellectual disability (MedGen UID: 895979). Additionally, the TAF1 gene has preliminary evidence supporting a correlation with dystonia-parkinsonism (MedGen UID: 326820).
The TAF2 gene is associated with autosomal recessive intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (MedGen UID: 816410).
The TAF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Alazami-Yuan syndrome (MedGen UID: 934669).
The TALDO1 gene is associated with autosomal recessive transaldolase deficiency (TALDO deficiency) (MedGen UID: 224855).
The TANGO2 gene is associated with autosomal recessive recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN) (MedGen UID: 894196).
The TAPT1 gene is associated with autosomal recessive osteochondrodysplasia, Symoens-Barnes-Gistelinck type (MedGen UID: 900688). Additionally, the TAPT1 gene has preliminary evidence supporting a correlation with autosomal recessive pediatric cataracts (PMID: 27878435).
The TARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (COXPD21) (MedGen UID: 863105).
The TAT gene is associated with autosomal recessive tyrosinemia type II (MedGen UID: 75687).
The TAX1BP3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy with septo-optic dysplasia (PMID: 25645515).
The TBC1D20 gene is associated with autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 816595).
The TBC1D24 gene is associated with a spectrum of related conditions including autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815503), DOORS syndrome (MedGen UID: 387800), familial infantile myoclonic epilepsy (MedGen UID: 181488), progressive myoclonic epilepsy (PMID: 25401298), as well as autosomal recessive and autosomal dominant nonsyndromic hearing loss (MedGen UID: 760543, 856147).
The TBC1D32 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive oro-facio-digital syndrome (PMID: 24285566, 27894351).
The TBC1D7 gene is associated with an autosomal recessive macrocephaly syndrome (MedGen UID: 812742).
The TBC1D8B gene is associated with X-linked nephrotic syndrome (MedGen UID: 1678854).
The TBCD gene is associated with autosomal recessive progressive early-onset encephalopathy with brain atrophy and thin corpus callosum (PEBAT) (MedGen UID: 934638).
The TBCE gene is associated with autosomal recessive Sanjad-Sakati syndrome (SSS) (MedGen UID: 340984), Kenney-Caffey syndrome (KCS) (MedGen UID: 340923), and progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) (MedGen UID: 934634).
The TBCK gene is associated with autosomal recessive infantile hypotonia with intellectual disability and characteristic facies (MedGen UID: 894421).
The TBL1XR1 gene is associated with autosomal dominant Pierpont syndrome (MedGen UID: 356049), syndromic intellectual disability (MedGen UID: 934751), and West syndrome (PMID: 25102098, 35611576, 37171308).
The TBX1 gene is associated with autosomal dominant DiGeorge/velocardiofacial syndrome (MedGen UID: 4297) and is one of the commonly deleted genes in the recurrent 22q11.2 microdeletion.
The TBX15 gene is associated with autosomal recessive Cousin syndrome (MedGen UID: 342400).
The TBX18 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (PMID: 26235987, 30143558).
The TBX3 gene is associated with autosomal dominant ulnar-mammary syndrome (UMS) (MedGen UID: 357886).
The TBX5 gene is associated with autosomal dominant Holt-Oram syndrome (HOS) (MedGen UID: 120524).
The TBX6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spondylocostal dysostosis (PMID: 25564734, 31015262), Mayer-Rokitansky-KĆ¼ster-Hauser syndrome (PMID: 25813282, 23954021), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 30604070).
The TBXAS1 gene is associated with autosomal recessive Ghosal hematodiaphyseal dysplasia (MedGen UID: 344739).
The TCF12 gene is associated with autosomal dominant craniosynostosis (MedGen UID: 811568) and Kallman syndrome (PMID: 32620954).
The TCF20 gene is associated with autosomal dominant syndromic intellectual disability (MedGen: 1676192).
The TCF4 gene is associated with autosomal dominant Pitt-Hopkins syndrome (MedGen UID: 370910).
The TCIRG1 gene is associated with autosomal recessive osteopetrosis due to TCIRG1 deficiency (MedGen UID: 376708).
The TCOF1 gene is associated with autosomal dominant Treacher Collins syndrome 1 (MedGen UID: 468517).
The TCTEX1D2 gene (also known as DYNLT2B) is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 1372794).
The TCTN1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 481661).
The TCTN2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TCTN3 gene is associated with autosomal recessive Joubert syndrome (Medgen UID: 766672) and orofacial-digital syndrome IV (OFD4) (MedGen UID: 98358).
The TDRD7 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 462654).
The TEAD1 gene is associated with autosomal dominant Sveinsson chorioretinal atrophy (SCRA) (MedGen UID: 354733). Additionally, the TEAD1 gene has preliminary evidence supporting a correlation with autosomal dominant Aicardi syndrome (PMID: 26091538).
The TECPR2 gene is associated with autosomal recessive hereditary spastic paraplegia 49 (SPG49) (MedGen UID: 762260).
The TECTA gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 355030) and autosomal dominant nonsyndromic deafness (MedGen UID: 321902).
The TEK gene is associated with autosomal dominant primary congenital glaucoma (MedGen UID: 934606) and autosomal dominant multiple cutaneous and mucosal venous malformations (VMCM) (MedGen UID: 325026).
The TELO2 gene is associated with autosomal recessive You-Hoover-Fong syndrome (MedGen UID: 934745).
The TENM3 gene is associated with autosomal recessive microphthalmia with coloboma (MCOPCB) (MedGen UID: 767506).
The TERC gene is associated with autosomal dominant TERC-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 338831).
The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793).
The TFAP2A gene is associated with autosomal dominant branchiooculofacial syndrome (BOFS) (MedGen UID: 91261).
The TFAP2B gene is associated with autosomal dominant Char syndrome (MedGen UID: 358356).
The TFG gene is associated with autosomal dominant hereditary motor and sensory neuropathy, Okinawa type (HMSNO) (MedGen UID: 346886) and autosomal recessive hereditary spastic paraplegia 57 (SPG57) (MedGen UID: 811490).
The TGDS gene is associated with autosomal recessive Catel-Manzke syndrome (MedGen ID: 375536).
The TGFB1 gene is associated with autosomal dominant Camurati-Engelmann disease (CED) (MedGen UID: 4268) and autosomal recessive inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) (MedGen UID: 1648434). Additionally, the TGFB1 gene has preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency (PMID: 27577878) and acute aortic dissection (PMID: 30056620).
The TGFB2 gene is associated with autosomal dominant Loeys-Dietz syndrome 4 (LDS4) (MedGen UID: 766676) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 850745).
The TGFB3 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) (MedGen UID: 816342). Additionally, the TGFB3 gene has preliminary evidence supporting a correlation with autosomal dominant nonsyndromic thoracic aortic aneurysm and/or dissection (MedGen UID: 879960).
The TGFBI gene is associated with autosomal dominant and autosomal recessive corneal dystrophy (MedGen UID: 220900, 99275, 351521, 305533, 332989, 83284, 287070, 42290, PMID: 33772078, 33816482, 25932442, 17893542).
The TGFBR1 gene is associated with autosomal dominant nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766), Loeys-Dietz syndrome 1 (LDS1) (MedGen UID: 1646567), and multiple self-healing squamous epithelioma (MSSE) (MedGen UID: 154270).
The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome 2 (LDS2) (MedGen UID: 382398) and nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766).
The TGIF1 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 374488).
The TGM1 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen UID: 760723)
The TGM6 gene is associated with autosomal dominant spinocerebellar ataxia 35 (SCA35) (MedGen UID: 854733).
The TH gene is associated with autosomal recessive tyrosine hydroxylase (TH) deficiency (MedGen UID: 382128).
The THAP1 gene is associated with autosomal dominant dystonia 6 (DYT6) (MedGen UID: 236274).
The THBD gene is associated with autosomal dominant thrombomodulin-associated coagulopathy (TM-AC) (PMID: 25564403) and autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414541). Additionally, the THBD gene has preliminary evidence supporting a correlation with autosomal dominant thrombophilia due to thrombomodulin defect (MedGen UID: 482606).
The THPO gene is associated with autosomal dominant hereditary thrombocythemia (MedGen UID: 479301), autosomal dominant hereditary thrombocytopenia (PMID: 28466964), autosomal recessive aplastic anemia (PMID: 24085763), and autosomal recessive congenital amegakaryocytic thrombocytopenia (PMID: 36226497).
The TIMM50 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 1622927).
The TIMM8A gene is associated with X-linked recessive Mohr-Tranebjaerg syndrome (MedGen UID: 162903), also referred to as deafness-dystonia-optic neuronopathy (DDON) syndrome, or Jensen syndrome.
The TIMMDC1 gene is associated with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648395).
The TIMP3 gene is associated with autosomal dominant Sorsby fundus dystrophy (SFD) (MedGen UID: 338164). Additionally, the TIMP3 gene has preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 32715858).
The TINF2 gene is associated with autosomal dominant TINF2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462795).
The TJP2 gene is associated with autosomal recessive progressive familial intrahepatic cholestasis (PFIC) (MedGen UID: 418976). Additionally, the TJP2 gene has preliminary evidence supporting a correlation with autosomal recessive familial hypercholanemia (PMID: 12704386) and autosomal dominant nonsyndromic deafness (PMID: 24752540, 26668150, 20602916).
The TK2 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 2 (MTDPS2) (MedGen UID: 461100).
The TM4SF20 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant delay in early speech acquisition associated with leukoencephalopathy and autism spectrum disorder (PMID: 2381038, 27771533).
The TMC1 gene is associated with autosomal recessive and autosomal dominant nonsyndromic deafness (MedGen UID: 322084, 376173).
The TMCO1 gene is associated with autosomal recessive cerebro-facio-thoracic dysplasia (MedGen UID: 347111).
The TMED7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinal dystrophy (PMID: 29320387).
The TMEM106B gene is associated with autosomal dominant hypomyelinating leukodystrophy (MedGen UID: 1631337).
The TMEM107 gene is associated with with autosomal recessive Joubert syndrome (PMID: 26123494, 26595381). In addition, there is preliminary evidence supporting a correlation with autosomal recessive oro-facio-digital syndrome (OFD) (PMID: 28289185, 26595381, 26518474).
The TMEM126A gene is associated with autosomal recessive optic atrophy 7 (OPA7) (MedGen UID: 414112).
The TMEM126B gene is associated with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648451).
The TMEM127 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 18419). Additionally, the TMEM127 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 33051659, 28973655).
The TMEM132E gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 1678930).
The TMEM138 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482536) . In addition, there is preliminary evidence suggesting a correlation with autosomal recessive oro-facio-digital syndrome (OFD)(PMID: 28289185)
TMEM165 is associated with autosomal recessive TMEM165-congenital disorder of glycosylation (CDG-IIk) (MedGen UID 472402).
The TMEM173 gene is associated with autosomal dominant infantile-onset STING-associated vasculopathy (SAVI) (MedGen UID: 863159).
The TMEM216 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM231 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM237 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482396).
The TMEM240 gene is associated with autosomal dominant spinocerebellar ataxia 21 (SCA21) (MedGen UID: 375311).
The TMEM38B gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 767342).
The TMEM67 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).
The TMIE gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 322088).
The TMPRSS3 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 322046).
The TMTC3 gene is associated with autosomal recessive cortical malformations, also known as lissencephaly (MedGen UID: 934613).
The TNFRSF11A gene is associated with autosomal recessive osteopetrosis 7 (MedGen UID: 436770) and a heterogeneous group of related autosomal dominant expansile osteolytic syndromes including familial expansile osteolysis (MedGen UID: 96593), early onset familial Paget disease of bone (MedGen UID: 899166), expansile skeletal hyperphosphatasia (PMID: 11771666), and panostotic expansile bone disease (PMID: 24014458). Additionally, the TNFRSF11A gene has preliminary evidence supporting a correlation with autosomal dominant hereditary recurrent fevers (PMID: 24891336).
The TNFRSF11B gene is associated with autosomal recessive juvenile Paget disease of bone (MedGen UID: 75678) and autosomal dominant osteoarthritis with chondrocalcinosis (PMID: 24743232, 29578045).
The TNFSF11 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 342420).
The TNK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile onset epilepsy (PMID: 23686771, 27977884) and Mayer-Rokitansky-Kuster-Hauser syndrome (PMID: 31517310).
The TNS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephrotic syndrome (PMID: 29773874).
The TOE1 gene is associated with autosomal recessive pontocerebellar hypoplasia (MedGen UID: 767140).
The TONSL gene is associated with autosomal recessive sponastrime dysplasia (MedGen UID:Ā 266247).
The TOPORS gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 372159).
The TOR1A gene is associated with autosomal dominant dystonia 1 (DYT1) (MedGen UID: 338823) and autosomal recessive arthrogryposis multiplex congenita 5 (AMC5) (MedGen UID: 966793).
The TP53 gene is associated with autosomal dominant Li-Fraumeni syndrome (LFS) (MedGen UID: 322656).
The TP53RK gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1613511).
The TP63 gene is associated with autosomal dominant primary ovarian insufficiency (PMID: 35801529) and autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MedGen UID: 400232), ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) (MedGen UID: 347666), Hay-Wells syndrome (MedGen UID: 98032), limb-mammary syndrome (MedGen UID: 355051), Rapp-Hodgkin syndrome (MedGen UID: 315656), and split-hand/foot malformation (MedGen UID: 343120), collectively known as TP63-related conditions.
The TPI1 gene is associated with autosomal recessive triosephosphate isomerase deficiency (MedGen UID: 349893).
The TPK1 gene is associated with autosomal recessive thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (MedGen UID: 482496).
The TPRKB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Galloway-Mowat syndrome (PMID: 28805828).
The TPRN gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 413222).
The TRAF3IP1 gene is associated with autosomal recessive Senior-Loken syndrome (MedGen UID: 899086) and autosomal recessive short-rib thoracic dysplasia (PMID: 29068549).
The TRAIP gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 78534).
The TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566).
The TRAPPC2 gene is associated with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) (MedGen UID: 762085)
The TRAPPC3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27894351).
The TRAPPC9 gene is associated with autosomal recessive intellectual disability (ID) (MedGen UID: 442564).
The TREM2 gene is associated with autosomal recessive polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) (MedGen UID: 1648374) and frontotemporal dementia (PMID: 23318515, 23582655). Additionally, the TREM2 gene has preliminary evidence supporting a correlation with autosomal dominant late-onset Alzheimer disease (PMID: 23150908, 24899047).
The TREX1 gene is associated with autosomal recessive (and rarely, autosomal dominant) Aicardi-Goutieres syndrome 1 (AGS1) (MedGen ID: 162912), autosomal dominant familial chilblain lupus (CHBL1) (MedGen UID: 479249), and autosomal dominant retinal vasculopathy with cerebral leukodystrophy (RVCL) (MedGen UID: 348124). In addition, the TREX1 gene has preliminary evidence supporting a correlation with autosomal dominant susceptibility to systemic lupus erythematosus (SLE) (MedGen UID: 6146; PMID: 17660818).
The TRIM28 gene is associated with autosomal dominant predisposition to nonsyndromic Wilms tumor (MedGen UID: 1791443).
The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID: 78750).
The TRIM37 gene is associated with autosomal recessive mulibrey nanism (MedGen UID: 99347).
The TRIM8 gene is associated with autosomal dominant focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) (MedGen UID: 982747).
The TRIOBP gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 342839).
The TRIP11 gene is associated with a spectrum of autosomal recessive conditions ranging from TRIP11-CDG, also known as achondrogenesis Type 1A (MedGen UID: 78546), to odontochondrodysplasia (ODCD) (MedGen UID: 411198).
The TRIP13 gene is associated with autosomal recessive mosaic variegated aneuploidy syndrome (MVA) (MedGen UID: 1616382) and female infertility due to oocyte maturation arrest (MedGen UID: 1724427).
The TRIP4 gene is associated with autosomal recessive spinal muscle atrophy with congenital bone fractures 1 (SMABF1) (MedGen UID: 896011). Additionally, the TRIP4 gene has preliminary evidence supporting a correlation with autosomal recessive congenital muscular dystrophy (MedGen UID: 934703).
The TRMT10A gene is associated with autosomal recessive microcephaly, short stature, and impaired glucose metabolism (MSSGM) (MedGen UID: 863434).
The TRMT5 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 26 (COXPD26) (MedGen UID: 907399).
The TRNT1 gene is associated with autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) (MedGen UID: 863609) and retinitis pigmentosa with erythrocytic microcytosis (RPEM) (MedGen UID: 934743).
The TRPC3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia 41 (SCA41) (MedGen UID: 908281).
The TRPC6 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 349053).
The TRPM1 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 416373). Additionally, the TRPM1 gene has preliminary evidence supporting a correlation with retinal dystrophy (PMID: 30029497).
The TRPM6 gene is associated with autosomal recessive familial hypomagnesemia with secondary hypocalcemia (MedGen UID: 355596).
The TRPS1 gene is associated with autosomal dominant trichorhinophalangeal syndrome (TRPS) (MedGen UID: 140929).
The TRPV3 gene is associated with autosomal dominant Olmsted syndrome (MedGen UID: 435863).
The TRPV4 gene is associated with a spectrum of overlapping autosomal dominant conditions including Charcot-Marie-Tooth disease type 2C (CMT2C) (MedGen UID: 342947), also referred to as distal hereditary motor neuropathy type 8 (HMN8) (MedGen UID: 373984) or scapuloperoneal spinal muscular atrophy (SPSMA) (MedGen UID: 148283), and multiple TRPV4-related skeletal dysplasias (MedGen UID: 975206).
The TRPV6 gene is associated with autosomal recessive transient neonatal hyperparathyroidism (MedGen UID: 722059). Additionally, the TRPV6 gene has preliminary evidence supporting a correlation with increased risk of chronic pancreatitis (PMID: 31930989).
The TRRAP gene is associated with an autosomal dominant intellectual disability syndrome with or without autism and dysmorphic facies (MedGen UID: 1679263).
The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288).
The TSC2 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 348170).
The TSEN2 gene is associated with autosomal recessive pontocerebellar hypoplasia type 2B (PCH2B) (MedGen UID: 393505). Additionally, the TSEN2 gene has preliminary evidence supporting a correlation with autosomal recessive TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure) (PMID: 34964109).
The TSEN34 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pontocerebellar hypoplasia (PMID: 18711368).
The TSEN54 gene is associated with autosomal recessive pontocerebellar hypoplasia type 2A, type 4 and type 5 (PCH2A, PCH4, PCH5) (MedGen UID: 376379, 384027, 341845).
The TSFM gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 3 (COXPD3) (MedGen UID: 355842).
The TSPAN12 gene is associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) (MedGen UID: 412872).
The TSPEAR gene is associated with autosomal recessive ectodermal dysplasia (MedGen UID: 1648329) and autosomal recessive tooth agenesis (PMID: 34042254). Additionally, the TSPEAR gene has preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 26969326, 22678063).
The TSPYL1 gene is associated with autosomal recessive sudden infant death with dysgenesis of the testes syndrome (MedGen UID: 332428).
The TSR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked Diamond-Blackfan anaemia with mandibulofacial dystostosis (PMID: 24942156).
The TTBK2 gene is associated with autosomal dominant spinocerebellar ataxia 11 (SCA11) (MedGen UID: 346799).
The TTC19 gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 2 (MC3DN2) (MedGen UID: 767519).
The TTC21B gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462536) and asphyxiating thoracic dystrophy (MedGen UID: 462535).
The TTC26 gene is associated with an autosomal recessive biliary ciliopathy (PMID: 31595528).
The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347181) and nonsyndromic retinitis pigmentosa (MedGen UID: 462065).
The TTLL5 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 862938).
The TTPA gene is associated with autosomal recessive ataxia with vitamin E deficiency (AVED) (MedGen UID: 341248).
The TTR gene is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (MedGen UID: 414031).
The TUB gene is associated with autosomal recessive retinal dystrophy (Pubmed ID: 24375934).
The TUBA1A gene is associated with autosomal dominant cortical malformations (MedGen UID: 369910).
The TUBA8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive developmental and epileptic encephalopathy (PMID: 29588952) and autosomal dominant polymicrogyria (PMID: 31481326).
The TUBB2A gene is associated with autosomal dominant cortical malformation syndrome (MedGen UID: 816737).
The TUBB2B gene is associated with autosomal dominant cortical malformations, also known as asymmetric polymicrogyria (MedGen UID: 765150). Additionally, the TUBB2B gene has preliminary evidence supporting a correlation with autosomal recessive cerebellar ataxia, intellectual disability and dysequilibrium syndrome (PMID: 28013290).
The TUBB3 gene is associated with autosomal dominant cortical dysplasia with other brain malformations (MedGen UID: 814727) and autosomal dominant congenital fibrosis of the extraocular muscles (MedGen UID: 412638).
The TUBB4A gene is associated with a spectrum of autosomal dominant conditions including dystonia 4 (DYT4) (MedGen UID: 342124) and hypomyelinating leukodystrophy 6 (HLD6) (MedGen UID: 436642).
The TUBB4B gene is associated with autosomal dominant Leber congenital amaurosis with early-onset deafness (MedGen UID: 1646810). Additionally, the TUBB4B gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorders (PMID: 25363768).
The TUBG1 gene is associated with autosomal dominant cortical malformations (MedGen UID: 815750).
The TUBGCP4 gene is associated with autosomal recessive microcephaly with chorioretinopathy (MedGen UID: 902924).
The TUBGCP6 gene is associated with autosomal recessive microcephaly and chorioretinopathy (MedGen UID: 480111).
The TUFM gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 4 (COXPD4) (MedGen UID: 610678).
The TULP1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 462556) and retinitis pigmentosa (RP) (MedGen UID: 325056).
The TWIST1 gene is associated with autosomal dominant Saethre-Chotzen syndrome (MedGen UID: 64221) and isolated craniosynostosis (MedGen UID: 1646646).
The TWIST2 gene is associated with autosomal dominant Barber-Say syndrome (MedGen UID: 230818) and Ablepharon macrostomia syndrome (MedGen UID: 395439), and autosomal recessive focal facial dermal dysplasia, Setleis type (MedGen UID: 315643).
The TWNK gene (formerly known as C10orf2) is associated with a spectrum of mitochondrial disorders including autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 (PEOA3) (MedGen UID: 373087), autosomal recessive Perrault syndrome 5 (PRLTS5) (MedGen UID: 863744), and autosomal recessive mitochondrial DNA depletion syndrome 7 (MTDPS7) (MedGen UID: 338613).
The TXN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 26626369).
The TXNDC15 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (PMID: 30851085).
The TYMP gene is associated with an autosomal recessive mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a mitochondrial DNA depletion syndrome (MedGen UID: 1631838).
The TYR gene is associated with autosomal recessive oculocutaneous albinism type 1A (OCA1A) (MedGen UID: 1643910) and type 1B (OCA1B) (MedGen UID: 337712).
The TYROBP gene is associated with autosomal recessive Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) (MedGen UID: 387795).
The TYRP1 gene is associated with autosomal recessive oculocutaneous albinism type 3 (MedGen UID: 87450).
The UBA5 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934667). Additionally, the UBA5 gene has preliminary evidence supporting a correlation with autosomal recessive spinocerebellar ataxia 24 (SCAR24) (MedGen UID: 934666).
The UBE2A is associated with the Nascimento type of X-linked syndromic intellectual disability (MedGen UID: 477095).
The UBE3A gene is associated with autosomal dominant Angelman syndrome (MedGen UID: 58144). Gains containing UBE3A are associated with autosomal dominant dup15q syndrome (PMID: 11803514, 9741464, 9399882). Parent-of-origin inheritance impacts the manifestation of UBE3A-related conditions.
The UBE3B gene is associated with autosomal recessive Kaufman oculocerebrofacial syndrome (MedGen UID: 343403).
The UBIAD1 gene is associated with autosomal dominant Schnyder type corneal dystrophy (SCD) (MedGen UID: 124391).
The UBR1 gene is associated with autosomal recessive Johanson-Blizzard syndrome (MedGen UID: 59798).
The UCHL1 gene is associated with autosomal dominant and autosomal recessive hereditary spastic paraplegia 79 (SPG79) (MedGen UID: 815995) and . Additionally, the UCHL1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease 5 (PARK5) (MedGen UID: 462249).
The UFM1 gene is associated with autosomal recessive hypomyelinating leukodystrophy-14 (HDL14) (MedGen UID: 1635255).
The UMOD gene is associated with autosomal dominant medullary cystic kidney disease type 2 (MCKD2), and tubulointerstitial kidney disease (ADTKD) (MedGen UID: 468440). Additionally, the UMOD gene has preliminary evidence supporting an association with autosomal dominant glomerulocystic kidney disease with hyperuricemia and isosthenuria (MedGen UID: 372162).
The UNC119 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cone-rod dystrophy and retinitis pigmentosa (PMID: 23563732, 26992781).
The UNC13D gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 3 (FHL3) (MedGen UID: 332383).
The UNC45B gene is associated with autosomal recessive myofibrillar myopathy (MedGen UID: 977890). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant cataract (MedGen UID: 901691).
The UNC80 gene is associated with autosomal recessive infantile hypotonia with intellectual disability and characteristic facies (MedGen UID: 907651).
The UPB1 gene is associated with autosomal recessive beta-ureidopropionase deficiency (MedGen UID: 226944).
The UPF3B gene is associated with X-linked intellectual disability (PMID: 19238151, 22957832). Additionally, there is preliminary evidence supporting a correlation with X-linked Lujan-Fryns syndrome (LFS) (PMID: 17704778, 19238151) and Opitz-Kaveggia syndrome (OKS) (PMID: 17704778).
The UQCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex III deficiency (PMID: 24385928).
The USB1 gene is associated with autosomal recessive poikiloderma with neutropenia (PN) (MedGen UID: 388129).
The USH1C gene is associated with autosomal recessive Usher syndrome type 1C (MedGen UID: 292820) and nonsyndromic deafness (MedGen UID: 356389)
The USH1G gene is associated with autosomal recessive Usher syndrome, type 1G (USH1G) (MedGen UID: 339683). Additionally, the USH1G gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (PMID: 25798947, 25255398).
The USH2A gene is associated with autosomal recessive Usher syndrome, type 2A (USH2A) (MedGen UID: 338513) and retinitis pigmentosa (RP) (MedGen UID: 462488). Additionally, the USH2A gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (PMID: 28000701, 23767834, 24853665, 24875298).
The USP7 gene is associated with an autosomal dominant neurodevelopmental condition involving neurological and behavioral anomalies (PMID: 30679821).
The USP9X gene is associated with X-linked intellectual disability (MedGen UID: 813076; PMID 26833328).
The VAC14 gene is associated with a spectrum of autosomal recessive skeletal and neurodegenerative conditions including Yunis Varon syndrome (YVS) (PMID: 28635952) and childhood-onset striatonigral degeneration (SNDC) (MedGen UID: 934710).
The VAMP1 gene is associated with autosomal dominant spastic ataxia 1 (SPAX1) (MedGen UID: 409988) and autosomal recessive congenital myasthenic syndrome 25 (CMS25) (MedGen UID: 1683288).
The VARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 20 (COXPD20). (MedGen UID: 863097).
The VAX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive syndromic microphthalmia (MCOPS) (MedGen UID: 765991).
The VCAN gene is associated with autosomal dominant Wagner syndrome (MedGen UID: 452438) and retinitis pigmentosa (RP) (PMID: 26720455). Additionally, the VCAN gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 27058611) and early tooth loss (PMID: 30740127).
The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) (MedGen UID: 1641069), frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) (MedGen UID: 462753), and Charcot-Marie-Tooth disease type 2Y (CMT2Y) (MedGen UID: 898987).
The VDR gene is associated with autosomal recessive vitamin D-dependent rickets type 2A (VDDR2A) (MedGen UID: 90989). Additionally, the VDR gene has preliminary evidence supporting a correlation with autosomal dominant rickets (PMID: 21812032).
The VHL gene is associated with autosomal dominant von Hippel-Lindau (VHL) syndrome (MedGen UID: 42458) and autosomal recessive familial erythrocytosis, type 2 (MedGen UID: 332974).
The VIM gene is associated with autosomal dominant congenital cataracts (MedGen UID: 811741).
The VIPAS39 gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2) (MedGen UID: 462022).
The VLDLR gene is associated with autosomal recessive cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (CAMRQ1) (MedGen UID: 1639436).
The VPS11 gene is associated with autosomal recessive hypomyelinating leukodystrophy-12 (HDL12) (MedGen UID: 852226).
The VPS13A gene is associated with autosomal recessive choreoacanthocytosis (CHAC) (MedGen UID: 98277).
The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).
The VPS13D gene is associated with an autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, also known as spinocerebellar ataxia 4 (SCAR4) (MedGen UID: 335442).
The VPS33A gene is associated with autosomal recessive mucoploysaccharidosis-plus syndrome (MPSPS) (MedGen UID: 934594).
The VPS33B gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) (MedGen UID: 347219).
The VPS37A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 53 (SPG53) (MedGen UID: 761340).
The VRK1 gene is associated with a spectrum of autosomal recessive motor neuron disorders including distal hereditary motor neuropathy (dHMN) (PMID: 31090908, 31837156), amyotrophic lateral sclerosis (ALS) (PMID: 26583493), isolated spinal muscular atrophy (SMA) (PMID: 27281532), and pontocerebellar hypoplasia with infantile spinal muscular atrophy type 1A (PCH1A) (MedGen UID: 1630972).
The VSX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant keratoconus (MedGen UID: 372103) and craniofacial anomalies and anterior segment dysgenesis syndrome (MedGen UID: 481729).
The VSX2 gene is associated with autosomal recessive Microphthalmia/Anophthalmia/Coloboma (MAC) Spectrum (MedGen UID: 400598).
The WARS2 gene is associated with an autosomal recessive leukoencephalopathy (MedGen UID: 1619876).
The WAS gene is associated with X-linked recessive Wiskott-Aldrich syndrome (MedGen UID: 21921), severe congenital neutropenia (MedGen UID: 335314) and thrombocytopenia (MedGen UID: 326416), collectively known as WAS-related disorders.
The WASHC5 gene (formerly known as KIAA0196) is associated with autosomal dominant hereditary spastic paraplegia 8 (SPG8) (MedGen UID: 400359) and autosomal recessive cranio-cerebello-cardiac (3C) syndrome, also known as Ritscher-Schinzel syndrome (MedGen UID: 1634646).
The WBP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with nonsyndromic deafness (PMID: 26881968).
The WDPCP gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 461477).
The WDR11 gene is associated with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 761703) and autosomal recessive intellectual disability, microcephaly, and short stature syndrome (PMID: 34413497). Additionally, the WDR11 gene has preliminary evidence supporting a correlation with disorders of sexual development (PMID: 27899157).
The WDR19 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (ATD) (MedGen UID: 482228), nephronophthisis (NPHP) (OMIM ID: 614377), Senior-Loken syndrome (SLS) (MedGen UID: 905171), and nonsyndromic retinitis pigmentosa (PMID: 23683095).
The WDR34 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 11 (MedGen UID: 816530). Additionally, the WDR34 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (also known as rod-cone dystrophy, or RCD) (PMID: 33124039).
The WDR35 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) with or without polydactyly (MedGen UID: 481422).
The WDR36 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early onset glaucoma (PMID: 29104481, 31367175).
The WDR4 gene is associated with autosomal recessive microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) (MedGen UID: 1676229).
The WDR45 gene is associated with X-linked dominant beta-propeller protein-associated neurodegeneration (BPAN) (MedGen UID: 763887).
The WDR60 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 8 (MedGen UID: 816021).
The WDR62 gene is associated with autosomal recessive primary microcephaly (MedGen UID: 346929). Additionally, the WDR62 gene has preliminary evidence supporting a correlation with autosomal dominant primary ovarian insufficiency (PMID: 30102701).
The WDR73 gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1634188).
The WDR87 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 26622071).
The WFS1 gene is associated with autosomal recessive Wolfram syndrome (MedGen UID: 1641635) and autosomal dominant Wolfram-like syndrome (MedGen UID: 481988) and nonsyndromic low-frequency sensorineural deafness (MedGen UID: 331419). Additionally, the WFS1 gene has preliminary evidence supporting a correlation with cerebellar ataxia (PMID: 25133958) and autosomal dominant congenital cataracts (MedGen UID: 811742).
The WHRN gene is associated with autosomal recessive Usher syndrome type 2D (MedGen UID: 292821) and nonsyndromic deafness (MedGen UID: 339621).
The WHSC1 gene (also known as the NSD2 gene) is associated with autosomal dominant Wolf-Hirschhorn-like syndrome (MedGen UID: 408255). Additionally, the WHSC1 gene has preliminary evidence supporting a correlation with autosomal dominant autism (PMID: 28191890, 27824329, 30564305).
The WISP3 gene is associated with autosomal recessive progressive pseudorheumatoid dysplasia (PPRD) (MedGen UID: 96581).
The WNK1 gene is associated with autosomal dominant pseudohypoaldosteronism type 2C (PHA2C) (MedGen UID: 327089) and autosomal recessive hereditary autonomic and sensory neuropathy type 2A (HSAN2A) (MedGen UID: 416701).
The WNK4 gene is associated with autosomal dominant pseudohypoaldosteronism type 2B (PHA2B) (MedGen UID: 374457).
The WNT1 gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 815174) and autosomal dominant osteoporosis (PMID: 23656646, 32369212).
The WNT10A gene is associated with autosomal recessive types of ectodermal dysplasia (MedGen UID: 208666, 347366) and autosomal dominant tooth agenesis (MedGen UID: 372057).
The WNT10B gene is associated with autosomal recessive split hand/foot malformation type 6 (SHFM6) (MedGen UID: 440845). Additionally, the WNT10B gene has preliminary evidence supporting a correlation with autosomal dominant tooth agenesis (MedGen UID: 934697).
The WNT2B gene is associated with an autosomal recessive oculo-intestinal syndrome (MedGen UID: 1648425; PMID: 33526876).
The WNT3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with tetra-amelia syndrome (MedGen UID: 860705).
The WNT3A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant osteoporosis (PMID: 22789636) and an autosomal recessive skeletal dysplasia with risk for prenatal fractures (PMID: 29620724).
The WNT4 gene is associated with autosomal dominant Mayer-Rokitansky-Kuster-Hauser syndrome (MedGen UID: 352204). Additionally, the WNT4 gene has preliminary evidence supporting a correlation with autosomal recessive SERKAL syndrome (MedGen UID: 394528).
The WNT5A gene is associated with autosomal dominant Robinow syndrome (ADRS) (MedGen UID: 1641736).
The WNT7A gene is associated with a range of autosomal recessive skeletal dysplasias, including Al-Awadi/Raas-Rothschild syndrome (MedGen UID: 336388), Fuhrmann syndrome (MedGen UID: 346429), and Santos syndrome (PMID: 28855715).
The WNT9B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Mayer-Rokitansky-KĆ¼ster-Hauser syndrome (PMID: 26610373, 24268733).
The WRAP53 gene is associated with autosomal recessive WRAP53-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462792).
The WRN gene is associated with autosomal recessive Werner syndrome (WS) (MedGen UID: 12147).
The WT1 gene is associated with autosomal dominant Denys-Drash syndrome (MedGen UID: 181980), Wilms tumor predisposition syndrome (MedGen UID: 447509), WAGR syndrome (MedGen UID: 64512), and Frasier syndrome (MedGen UID: 215533).
The WWOX gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863956) and spinocerebellar ataxia 12 (SCAR12) (MedGen UID: 482082). Additionally, the WWOX gene has preliminary evidence supporting a correlation with disorders of sex development (PMID: 28130116, 22071891).
The XDH gene is associated with autosomal recessive xanthinuria type I (MedGen UID: 82771).
The XK gene is associated with X-linked recessive McLeod neuroacanthocytosis syndrome (MedGen UID: 140765).
The XPA gene is associated with autosomal recessive xeroderma pigmentosum (XP) (MedGen UID: 82775).
The XPC gene is associated with autosomal recessive xeroderma pigmentosum (MedGen UID: 416702).
The XPNPEP3 gene is associated with autosomal recessive nephronophthisis-like nephropathy 1 (NPHPL1) (MedGen UID: 461769).
The XPO5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive steroid resistant nephrotic syndrome (PMID: 26878725).
The XPR1 gene is associated with autosomal dominant primary basal ganglia calcification 6 (BGC6) (MedGen UID: 901404).
The XRCC4 gene is associated with autosomal recessive short stature, microcephaly, and endocrine dysfunction (SSMED) (MedGen UID: 895448).
The XYLT1 gene is associated with autosomal recessive Desbuquois dysplasia type 2 (MedGen UID: 862731). Additionally, the XYLT1 gene has preliminary evidence supporting a correlation with autosomal dominant acute aortic dissection (PMID: 30056620).
The XYLT2 gene is associated with autosomal recessive spondyloocular syndrome (MedGen UID: 900371).
The YAP1 gene is associated with an autosomal dominant syndrome involving ocular coloboma with or without deafness, cleft lip/palate, and/or intellectual disability (MedGen UID: 811762).
The YARS gene is associated with dominant intermediate Charcot-Marie-Tooth disease type C (CMTDIC) (MedGen UID: 334023) and autosomal recessive YARS-related multi-systemic syndrome (PMID: 30304524).
The YME1L1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondriopathy with optic nerve atrophy (PMID: 27495975).
The YRDC gene is associated with autosomal recessive Galloway-Mowat syndrome (PMID: 31481669).
The YWHAE gene is associated with autosomal dominant neurodevelopmental disease with brain abnormalities (PMID: 28542865, 36999555).
The YWHAG gene is associated with a spectrum of autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1621755).
The YWHAZ gene is associated with autosomal dominant cardio-facio-cutaneous (CFC) syndrome ((PMID: 31024343), which is one of the RASopathies (MedGen UID: 1792298). Additionally, the YWHAZ gene has preliminary evidence supporting a correlation with autosomal dominant YWHAZ-related intellectual disability (PMID: 35143101, 36001342).
The ZBTB18 gene is associated with autosomal dominant ZBTB18-related intellectual disability syndrome (MedGen UID: 814514).
The ZBTB20 gene is associated with autosomal dominant Primrose syndrome (MedGen UID: 162911).
The ZC4H2 gene is associated with X-linked Wieacker-Wolff syndrome (WRWF) (MedGen UID: 163227).
The ZDBF2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant nasopelpebral lipoma-coloboma syndrome (NPLCS) (PMID: 27139419).
The ZDHHC9 gene is associated with X-linked recessive intellectual disability (ID) (Med Gen UID: 477037).
The ZEB1 gene is associated with autosomal dominant posterior polymorphous corneal dystrophy 3 (PPCD3) (MedGen UID: 322978).
The ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067).
The ZFPM2 gene is associated with autosomal dominant diaphragmatic hernia (MedGen UID: 347546) and autosomal dominant disorders of sex development (MedGen UID: 863566) . Additionally, the ZFPM2 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (PMID: 21919901, 20807224, 17309641).
The ZFR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia (PMID: 24482476).
The ZFYVE26 gene is associated with autosomal recessive hereditary spastic paraplegia 15 (SPG15) (MedGen UID: 341387).
The ZIC1 gene is associated with autosomal dominant structural brain anomalies with impaired intellectual development and craniosynostosis (MedGen UID: 1684861).
The ZIC2 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 355304).
The ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 419019) and X-linked recessive heterotaxy (MedGen UID: 336609).
The ZIC4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Dandy-Walker malformation (PMID: 15338008).
The ZMIZ1 gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 1684792).
The ZMPSTE24 gene is associated with autosomal recessive restrictive dermopathy (RD) (MedGen UID: 98356) and mandibuloacral dysplasia with type B lipodystrophy (MADB) (MedGen UID: 332940).
The ZMYD10 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815873).
The ZMYND11 gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 863604).
The ZNF143 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive intracellular cobalamin deficiency (PMID: 27349184) and autosomal dominant endothelial corneal dystrophy (PMID: 31390831).
The ZNF335 gene is associated with autosomal recessive primary microcephaly (MedGen UID: 767413).
The ZNF408 gene is associated with autosomal dominant exudative vitreoretinopathy (EVR) (MedGen UID: 902559) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 895867; PMID: 25882705).
The ZNF423 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 761313).
The ZNF469 gene is associated with autosomal recessive brittle cornea syndrome (MedGen UID: 78661).
The ZNF513 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 29320387, 20797688).
The ZNF687 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Paget disease of bone (PDB) (MedGen UID: 879955; PMID: 26849110).
The ZSWIM6 gene is associated with autosomal dominant acromelic frontonasal dysostosis (AFND) (MedGen UID: 350933) and a neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (MedGen UID: 1647077).
