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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 ABCC6 gene is associated with autosomal recessive pseudoxanthoma elasticum (PXE) (MedGen UID: 18733) and generalized arterial calcification of infancy (GACI) (MedGen UID: 477791).
The ACE gene is associated with autosomal recessive renal tubular dysgenesis (MedGen UID: 82738).
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 ACTN4 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 1636833).
The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).
The ADA2 gene is associated with autosomal recessive deficiency of adenosine deaminase 2 (DADA2) (MedGen UID: 1659861).
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 ADAMTS9 gene is associated with autosomal recessive Joubert syndrome (PMID: 30609407, 34750010).
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 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 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 AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28442542, 29186038).
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 ALB gene is associated with autosomal recessive analbuminemia (MedGen UID: 164210), and autosomal dominant dysalbuminemic hyperthyroxinemia (MedGen UID: 90974).
ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID 332969).
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 ALMS1 gene is associated with autosomal recessive Alstrƶm syndrome (MedGen UID: 78675).
The ALPL gene is associated with autosomal dominant and recessive hypophosphatasia (MedGen UID: 43799).
The AMN gene is associated with autosomal recessive Imerslund-GraĢsbeck syndrome (MedGen UID: 224934).
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 ANOS1 gene is associated with X-linked Kallmann syndrome (MedGen UID: 295872).
The AP2S1 gene is associated with autosomal dominant familial hypocalciuric hypercalcemia type 3 (FHH3) (MedGen UID: 322173).
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 APRT gene is associated with autosomal recessive adenine phosphoribosyltransferase (APRT) deficiency (MedGen UID: 82772).
The AQP2 gene is associated with autosomal dominant and autosomal recessive nephrogenic diabetes insipidus (MedGen UID: 289643).
The ARHGAP24 gene is associated with autosomal dominant nephrotic syndrome (MedGen UID: 890751).
The ARHGDIA gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 815283).
The ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).
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 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 ASCC1 gene is associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 2 (SMABF2) (MedGen UID: 907910).
The ATP6V0A4 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) (MedGen UID: 351142).
The ATP6V1B1 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) with progressive nerve deafness (MedGen UID: 98336).
The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).
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 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 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 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 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 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 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 BNC2 gene is associated with autosomal dominant congenital lower urinary tract obstruction (LUTO) (MedGen UID: 945408).
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 BSND gene is associated with autosomal recessive Bartter syndrome type 4a (BARTS4A) (MedGen UID: 355430) and non-syndromic deafness (PMID: 19646679, 24949729).
The CFAP300 gene (also known as C11orf70) is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648465).
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 C3 gene is associated with autosomal recessive C3 deficiency (MedGen UID: 462421), autosomal dominant atypical hemolytic uremic syndrome 5 (aHUS5) (MedGen UID: 442875) and autosomal dominant C3 glomerulonephritis (C3GN) (PMID: 26471127).
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 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 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 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 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 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 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 CCDC65 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816031).
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 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 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 CD46 gene is associated with autosomal dominant and recessive atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414167).
The CD55 gene is associated with autosomal recessive complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy syndrome (MedGen UID: 1622548).
The CD59 gene is associated with autosomal recessive CD59-mediated hemolytic anemia, with or without immune-mediated polyneuropathy (HACD59) (MedGen UID: 393582).
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 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 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 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 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 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 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 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 CFB gene is associated with autosomal dominant atypical hemolytic uremic syndrome (MedGen UID: 416691). In addition, there is preliminary evidence supporting a correlation with autosomal recessive complement factor B deficiency (CFBD) (PMID: 24152280; MedGen UID: 816280).
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 CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).
The CHRM3 gene is associated with autosomal recessive prune belly syndrome (MedGen UID: 18718).
The CHRNA3 gene is associated with autosomal recessive congenital anomalies of the kidney and urinary tract (CAKUT) with autonomic dysfunction (PMID: 31708116).
The CHUK gene is associated with autosomal recessive cocoon syndrome, also known as Bartsocas-Papas syndrome 2 (MedGen UID: 462241, 1778443).
The CISD2 gene is associated with autosomal recessive Wolfram syndrome 2 (WFS2) (MedGen UID: 347604).
The CLCN2 gene is associated with autosomal recessive leukoencephalopathy with ataxia (MedGen UID: 1638681) and autosomal dominant hyperaldosteronism (MedGen UID: 340137).
The CLCN5 gene is associated with X-linked Dent disease complex (MedGen UID: 336322).
The CLCNKB gene is associated with autosomal recessive Bartter syndrome type 3 (BSIII) (MedGen UID: 335399) and Gitelman syndrome (PMID: 26920127, 24830959).
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 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 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 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 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 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 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 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 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 COQ6 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766263).
The COQ8B gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 816295).
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 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 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 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 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 CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).
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 CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (PMID: 24360808).
The CTNS gene is associated with autosomal recessive cystinosis, including nephropathic, intermediate and ocular non-nephropathic types (MedGen UIDs: 1207, 347449, 75701).
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 CXCR4 gene is associated with autosomal dominant WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome (MedGen UID: 96875).
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 CYP24A1 gene is associated with autosomal recessive infantile hypercalcemia (MedGen UID: 120608).
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 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 DDX59 gene is associated with autosomal recessive oral-facial-digital syndrome (OFD) (MedGen UID: 358131).
The DGKE gene is associated with autosomal recessive atypical hemolytic uremic syndrome 7 (AHUS7) and nephrotic syndrome, type 7 (NPHS7) (MedGen UID: 767244).
The DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).
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 DICER1 gene is associated with autosomal dominant DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 449020).
The DKC1 gene is associated with X-linked dyskeratosis congenita spectrum disorders (DC) (MedGen UID: 216941).
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 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 DMP1 gene is associated with autosomal recessive hypophosphatemic rickets (ARHR) (MedGen UID: 137975).
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 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 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 DRC1 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815417).
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 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 DZIP1L gene is associated with autosomal recessive polycystic kidney disease (PKD) (MedGen UID: 1624679).
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 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 EIF2AK3 gene is associated with autosomal recessive Wolcott-Rallison syndrome (WRS) (MedGen UID: 140926).
The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).
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 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 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 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 EXOC3L2 gene is associated with an autosomal recessive ciliopathy (PMID: 30327448, 27894351).
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 EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (MedGen UID: 351307, 82693).
The FAM111A gene is associated with autosomal dominant Gracile bone dysplasia (MedGen UID: 356331) and Kenny-Caffey syndrome (KCS) (MedGen UID: 1373312).
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 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 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 FAT4 gene is associated with autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome (MedGen UID: 863376) and Van Maldergem syndrome (MedGen UID: 816205).
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 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 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 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 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 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 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 FOXF1 gene is associated with autosomal dominant alveolar capillary dysplasia with misalignment of pulmonary veins (MedGen UID: 45824).
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 FOXP3 gene is associated with X-linked recessive immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (MedGen UID: 83339).
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 FXYD2 gene is associated with autosomal dominant hypomagnesemia (MedGen UID: 320542).
The G6PC gene is associated with autosomal recessive glycogen storage disease type Ia (GSDIa) (MedGen UID: 433536).
The GALNT3 gene is associated with autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297)
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 GAS8 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 852235).
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 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 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 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 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 GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).
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 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 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 GNPAT gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 2 (RCDP2) (MedGen UID: 341734).
The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).
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 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 GRHPR gene is associated with autosomal recessive primary hyperoxaluria, type 2 (PH2) (MedGen UID: 120616).
The GRIP1 gene is associated with autosomal recessive Fraser syndrome (MedGen UID: 1621907).
The GSN gene is associated with autosomal dominant amyloidosis, Finnish type (MedGen UID: 301243).
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 HES7 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 462292).
The HGD gene is associated with autosomal recessive alkaptonuria (MedGen UID: 1413).
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 HOGA1 gene is associated with autosomal recessive primary hyperoxaluria type 3 (PH3) (MedGen UID: 462228).
The HOXA13 gene is associated with autosomal dominant hand-foot genital syndrome (MedGen UID: 331103) and Guttmacher syndrome (MedGen UID: 401304).
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 HPSE2 gene is associated with autosomal recessive Ochoa syndrome, also known as urofacial syndrome (MedGen UID: 98015).
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).
The HSD11B2 gene is associated with autosomal recessive apparent mineralocorticoid excess (MedGen UID: 854657).
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 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 ICK gene (also known as CILK1) is associated with autosomal recessive endocrine-cerebro-osteodysplasia (MedGen UID: 390740).
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 IL1RN gene is associated with autosomal recessive interleukin 1 receptor antagonist deficiency (DIRA) (MedGen UID: 411230).
The IMPAD1 gene is associated with autosomal recessive chondrodysplasia with joint dislocations, GPAPP type (MedGen UID: 481387).
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 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 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 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 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 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 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 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 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 KCTD1 gene is associated with autosomal dominant scalp-ear-nipple (SEN) syndrome (MedGen UID: 357183).
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 KIF14 gene is associated with autosomal recessive ciliopathy-like syndrome (PMID: 30388224) and autosomal recessive microcephaly (MedGen UID: 1641618).
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 KLHL3 gene is associated with autosomal dominant and recessive pseudohypoaldosteronism type 2D (PHA2D) (MedGen UID:Ā 483335).
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 LAGE3 gene is associated with X-linked recessive Galloway-Mowat syndrome (MedGen UID: 1625619).
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 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 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 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 LFNG gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 377871).
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 LMX1B gene is associated with autosomal dominant nail-patella syndrome (NPS) (MedGen UID: 10257) and focal segmental glomerulosclerosis (FSGS)(PMID: 23687361, 26560070).
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 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 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 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 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 MAGED2 gene is associated with X-linked transient antenatal Bartterās syndrome (MedGen UID: 934787).
The MAGI2 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 1620414).
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 MAPKBP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 934607).
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 MBTPS2 gene is associated with X-linked ichthyosis follicularis with atrichia and photophobia (MedGen UID: 327007) and osteogenesis imperfecta (MedGen UID: 1648353).
The MCIDAS gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 946079).
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 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 MESP2 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 332481).
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 MMACHC gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency (MedGen UID: 341256).
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 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 MTHFR gene is associated with autosomal recessive severe MTHFR deficiency (MedGen UID: 383829).
The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).
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 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 MYH9 gene is associated with autosomal dominant MYH9-related disorders (MYH9RD) (MedGen UID: 1704278) and nonsyndromic deafness (MedGen UID: 350942).
The MYO1E gene is associated with autosomal recessive focal segmental glomerulosclerosis (FSGS) (MedGen UID: 481535).
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 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 NEK8 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462538).
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 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 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 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 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 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 NR0B1 gene is associated with X-linked congenital adrenal hypoplasia (MedGen UID: 87442) and disorders of sex development (MedGen UID: 341190).
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 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 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 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 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 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 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 OPLAH gene is associated with autosomal recessive 5-oxoprolinase deficiency (MedGen UID: 82814).
The OSGEP gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1627611).
The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).
The PAM16 gene is associated with autosomal recessive spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) (MedGen UID: 413221).
The PARN gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 905452).
The PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002) and autosomal dominant focal segmental glomerulosclerosis (MedGen UID: 863362).
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 PCBD1 gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to pterin-4 alpha-carbinolamine dehydratase deficiency (MedGen UID: 440773).
The PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).
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 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 PHEX gene is associated with X-linked hypophosphatemia (XLH) (MedGen UID: 196551).
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 DNAAF6 gene (formerly known as PIH1D3) is associated with X-linked recessive primary ciliary dyskinesia (MedGen UID: 1393107).
The PKD2 gene is associated with autosomal dominant polycystic kidney disease, type 2 (MedGen UID: 442699).
The PKHD1 gene is associated with autosomal recessive polycystic kidney disease (MedGen UID: 39076).
The PLCE1 gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 377831).
The PLG gene is associated with autosomal dominant angioedema (MedGen UID: 944089) and autosomal recessive plasminogen deficiency, type I (MedGen UID: 369859).
The PMM2 gene is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID 138111).
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 PPIB gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 376720).
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 PRKCSH gene is associated with autosomal dominant polycystic liver disease (PCLD) (MedGen UID: 56388).
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 PROKR2 gene is associated with autosomal recessive Kallmann syndrome (MedGen UID: 763392) and autosomal dominant Kallmann syndrome (PMID: 17054399, 23643382, 33983622).
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 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 PTPRO gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 481730).
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 RBM48 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 26489029).
The RCOR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Joubert syndrome (PMID: 26489029).
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 RET gene is associated with autosomal dominant multiple endocrine neoplasia type 2 (MEN2) (MedGen UID: 9958) and nonsyndromic Hirschsprung disease (MedGen UID: 419188).
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 RMND1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 11 (COXPD 11) (MedGen UID: 766981).
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 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 RPGRIP1L gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).
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 RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).
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 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 RTEL1 gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 901644).
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 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 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 SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629).
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 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 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 SDCCAG8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and Senior-Loken syndrome (MedGen UID: 462227).
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 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 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 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 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 SI gene is associated with autosomal recessive sucrase-isomaltase deficiency (MedGen UID: 220924).
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 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 SLC12A1 gene is associated with autosomal recessive Bartter syndrome type 1 (MedGen UID: 355727).
The SLC12A3 gene is associated with autosomal recessive Gitelman syndrome (MedGen UID: 75681).
The SLC22A12 gene is associated with autosomal recessive renal hypouricemia (MedGen UID: 141632).
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 SLC27A4 gene is associated with autosomal recessive ichthyosis prematurity syndrome (MedGen UID: 324839).
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 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 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 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 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 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 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 SLC5A1 gene is associated with autosomal recessive glucose-galactose malabsorption (GGM) (MedGen UID: 78647).
The SLC6A19 gene is associated with autosomal recessive Hartnup disorder (MedGen UID: 6723).
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 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 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 SLX4 gene is associated with autosomal recessive Fanconi anemia, type P (FA-P) (MedGen UID: 450103).
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 SMARCAL1 gene is associated with autosomal recessive Schimke immunoosseous dysplasia (SIOD) (MedGen UID: 164078).
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 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 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 SOX9 gene is associated with autosomal dominant campomelic dysplasia (MedGen UID: 354620).
The SPAG1 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 816036).
The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).
The SRCAP gene is associated with autosomal dominant Floating-Harbor syndrome (FHS) (MedGen UID: 152667) and an autosomal dominant neurodevelopmental disorder (PMID: 33909990).
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 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 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 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 TBC1D8B gene is associated with X-linked nephrotic syndrome (MedGen UID: 1678854).
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 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 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 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 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 TINF2 gene is associated with autosomal dominant TINF2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462795).
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 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 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 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 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 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 TRAF3IP1 gene is associated with autosomal recessive Senior-Loken syndrome (MedGen UID: 899086) and autosomal recessive short-rib thoracic dysplasia (PMID: 29068549).
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 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 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 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 TRPC6 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 349053).
The TRPM6 gene is associated with autosomal recessive familial hypomagnesemia with secondary hypocalcemia (MedGen UID: 355596).
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 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 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 TTR gene is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (MedGen UID: 414031).
The TXNDC15 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (PMID: 30851085).
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 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 USP9X gene is associated with X-linked intellectual disability (MedGen UID: 813076; PMID 26833328).
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 VIPAS39 gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2) (MedGen UID: 462022).
The VPS33B gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) (MedGen UID: 347219).
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 WDPCP gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 461477).
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 WDR60 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 8 (MedGen UID: 816021).
The WDR73 gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1634188).
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 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 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 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 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 XDH gene is associated with autosomal recessive xanthinuria type I (MedGen UID: 82771).
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 YRDC gene is associated with autosomal recessive Galloway-Mowat syndrome (PMID: 31481669).
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 ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 419019) and X-linked recessive heterotaxy (MedGen UID: 336609).
The ZMYD10 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815873).
The ZNF423 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 761313).
