Gene (selektierte assoziierte Erkrankung)
AAAS (Achalasia-Addisonianism-Alacrimia syndrome)
AARS (Charcot-Marie-Tooth disease, axonal, type 2N)
AASS (Hyperlysinemia)
ABAT (GABA-transaminase deficiency)
ABCA1 (HDL deficiency, type 2)
ABCA12 (Ichthyosis, harlequin)
ABCA3 (Surfactant metabolism dysfunction, pulmonary, 3)
ABCA4 (Cone-rod dystrophy 3)
ABCB11 (Cholestasis, benign recurrent intrahepatic, 2)
ABCB4 (Cholestasis, familial intrahepatic, of pregnancy)
ABCB7 (Anemia, sideroblastic, with ataxia)
ABCC2 (Dubin-Johnson syndrome)
ABCC6 (Pseudoxanthoma elasticum)
ABCC8 (Diabetes mellitus, noninsulin-dependent)
ABCC9 (Cardiomyopathy, dilated, 1O)
ABCD1 (Adrenoleukodystrophy)
ABCG5 (Sitosterolemia)
ABCG8 (Gallbladder disease 4)
ABHD5 (Chanarin-Dorfman syndrome)
ACAD8 (Isobutyryl-CoA dehydrogenase deficiency)
ACAD9 (ACAD9 deficiency)
ACADL (Acyl-CoA dehydrogenase, long chain, deficiency of)
ACADM (Acyl-CoA dehydrogenase, medium chain, deficiency of)
ACADS (Acyl-CoA dehydrogenase, short chain, deficiency of)
ACADSB (2-methylbutyrylglycinuria)
ACADVL (VLCAD deficiency)
ACAN (Osteochondritis dissecans, short stature, and early-onset osteoarthritis)
ACAT1 (Alpha-methylacetoacetic aciduria)
ACE (Renal tubular dysgenesis)
ACOX1 (Peroxisomal acyl-CoA oxidase deficiency)
ACP2 (Lysosomal acid phosphatase deficiency)
ACP33 (Mast syndrome)
ACSL4 (Mental retardation, X-linked nonspecific, 63)
ACTA1 (Myopathy, actin, congenital, with excess of thin myofilaments)
ACTA2 (Aortic aneurysm, familial thoracic 6)
ACTB (Dystonia, juvenile-onset)
ACTC1 (Atrial septal defect 5)
ACTG1 (Deafness, autosomal dominant 20/26)
ACTN2 (Cardiomyopathy, dilated, 1AA)
ACTN4 (Glomerulosclerosis, focal segmental, 1)
ACVR1 (Fibrodysplasia ossificans progressiva)
ACVRL1 (Hereditary hemorrhagic telangiectasia-2)
ACY1 (Aminoacylase 1 deficiency)
AD10 (Alzheimer disease-10)
AD5 (Alzheimer disease-5)
AD6 (Alzheimer disease 6)
AD8 (Alzheimer disease 8)
ADA (Adenosine deaminase deficiency, partial)
ADAM9 (Cone-rod dystrophy 9)
ADAMTS10 (Weill-Marchesani syndrome, recessive)
ADAMTS13 (Thrombotic thrombocytopenic purpura, familial)
ADAMTS17 (Weill-Marchesani-like syndrome)
ADAMTS2 (Ehlers-Danlos syndrome, type VIIC)
ADAMTSL2 (Geleophysic dysplasia)
ADAMTSL4 (Ectopia lentis, isolated, autosomal recessive)
ADAR (Dyschromatosis symmetrica hereditaria)
ADIPOQ (Adiponectin deficiency)
ADSL (Adenylosuccinase deficiency)
AFF2 (Mental retardation, X-linked, FRAXE type)
AGA (Aspartylglucosaminuria)
AGL (Glycogen storage disease IIIa)
AGPAT2 (Lipodystrophy, congenital generalized, type 1)
AGPS (Rhizomelic chondrodysplasia punctata type 3)
AGRN (Myasthenia, limb-girdle, familial)
AGT (Renal tubular dysgenesis)
AGTR1 (Hypertension, essential)
AGXT (Hyperoxaluria, primary, type 1)
AHI1 (Joubert syndrome-3)
AICDA (Immunodeficiency with hyper-IgM, type 2)
AIFM1 (Combined oxidative phosphorylation deficiency 6)
AIP (Pituitary adenoma, ACTH-secreting)
AIPL1 (Leber congenital amaurosis 4)
AIRE (Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia)
AK1 (Hemolytic anemia due to adenylate kinase deficiency)
AK2 (Reticular dysgenesis)
AKAP9 (Long QT syndrome-11)
AKR1D1 (Bile acid synthesis defect, congenital, 2)
AKT2 (Diabetes mellitus type II)
ALAD (Porphyria, acute hepatic)
ALAS2 (Anemia, sideroblastic, X-linked)
ALDH2 (Alcohol sensitivity, acute)
ALDH3A2 (Sjogren-Larsson syndrome)
ALDH4A1 (Hyperprolinemia, type II)
ALDH5A1 (Succinic semialdehyde dehydrogenase deficiency)
ALDH7A1 (Epilepsy, pyridoxine-dependent)
ALDOA (Glycogen storage disease XII)
ALDOB (Fructose intolerance)
ALG1 (Congenital disorder of glycosylation, type Ik)
ALG12 (Congenital disorder of glycosylation, type Ig)
ALG2 (Congenital disorder of glycosylation, type Ii)
ALG3 (Congenital disorder of glycosylation, type Id)
ALG6 (Congenital disorder of glycosylation, type Ic)
ALG8 (Congenital disorder of glycosylation, type Ih)
ALG9 (Congenital disorder of glycosylation, type Il)
ALMS1 (Alstrom syndrome)
ALOX12B (Ichthyosiform erythroderma, congenital, nonbullous, 1)
ALOXE3 (Ichthyosiform erythroderma, congenital, nonbullous, 1)
ALPL (Hypophosphatasia, adult)
ALS2 (Amyotrophic lateral sclerosis, juvenile)
ALX1 (Frontonasal dysplasia 3)
ALX3 (Frontorhiny)
ALX4 (Frontonasal dysplasia 2)
AMACR (Bile acid synthesis defect, congenital, 4)
AMELX (Amelogenesis imperfecta, hypoplastic/hypomaturation type)
AMH (Persistent Mullerian duct syndrome, type I)
AMHR2 (Persistent Mullerian duct syndrome, type II)
AMN (Megaloblastic anemia-1, Norwegian type)
AMT (Glycine encephalopathy)
ANG (Amyotrophic lateral sclerosis 9)
ANK1 (Spherocytosis, type 1)
ANK2 (Cardiac arrhythmia, ankyrin-B-related)
ANKH (Chondrocalcinosis 2)
ANO5 (Gnathodiaphyseal dysplasia)
ANTXR2 (Fibromatosis, juvenile hyaline)
AP1S2 (Mental retardation, X-linked 59)
AP3B1 (Hermansky-Pudlak syndrome 2)
AP4M1 (Cerebral palsy, spastic quadriplegic, 3)
APC (Adenomatous polyposis coli)
APOA1 (Amyloidosis, 3 or more types)
APOA2 (Hypercholesterolemia, familial, modification of)
APOA5 (Hyperchylomicronemia, late-onset)
APOB (Hypercholesterolemia, due to ligand-defective apo B)
APOC2 (Hyperlipoproteinemia, type Ib)
APOE (Alzheimer disease-2)
APP (Alzheimer disease 1, familial)
APTX (Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia)
AQP2 (Diabetes insipidus, nephrogenic)
AR (Androgen insensitivity)
ARFGEF2 (Periventricular heterotopia with microcephaly)
ARG1 (Argininemia)
ARHGEF10 (Slowed nerve conduction velocity, AD)
ARHGEF6 (Mental retardation, X-linked nonspecific, type 46)
ARHGEF9 (Hyperekplexia and epilepsy)
ARL13B (Joubert syndrome 8)
ARL6 (Bardet-Biedl syndrome 3)
ARSA (Metachromatic leukodystrophy)
ARSB (Maroteaux-Lamy syndrome, several forms)
ARSE (Chondrodysplasia punctata, X-linked recessive)
ARX (Epilepsy, myoclonic, with mental retardation and spasticity)
ASAH1 (Farber lipogranulomatosis)
ASCL1 (Central hypoventilation syndrome, congenital)
ASIP (Skin/hair/eye pigmentation 9, dark/light hair)
ASL (Argininosuccinic aciduria)
ASPA (Canavan disease)
ASPM (Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern)
ASPSCR1 (Alveolar soft part sarcoma)
ASS1 (Citrullinemia)
AT3 (Antithrombin III deficiency)
ATCAY (Ataxia, cerebellar, Cayman type)
ATIC (AICA-ribosiduria due to ATIC deficiency)
ATM (Ataxia-telangiectasia)
ATN1 (Dentatorubropallidoluysian atrophy)
ATP13A2 (Parkinson disease 9)
ATP1A2 (Alternating hemiplegia of childhood)
ATP1A3 (Dystonia-12)
ATP2A1 (Brody myopathy)
ATP2A2 (Acrokeratosis verruciformis)
ATP2C1 (Hailey-Hailey disease)
ATP6AP2 (Mental retardation, X-linked, with epilepsy)
ATP6B1 (Renal tubular acidosis with deafness)
ATP6V0A2 (Cutis laxa, autosomal recessive, type II)
ATP6V0A4 (Renal tubular acidosis, distal, autosomal recessive)
ATP7A (Menkes disease)
ATP7B (Wilson disease)
ATP8B1 (Cholestasis, benign recurrent intrahepatic)
ATPAF2 (ATP synthase deficiency, nuclear-encoded)
ATR (Seckel syndrome 1)
ATRX (Alpha-thalassemia mental retardation syndrome)
ATXN3 (Machado-Joseph disease)
AUH (3-Methylglutaconic aciduria type I)
AVP (Diabetes insipidus, neurohypophyseal)
AVPR2 (Diabetes insipidus, nephrogenic)
AVSD1 (Atrioventricular canal defect)
AXIN1 (Caudal duplication anomaly)
AXIN2 (Oligodontia-colorectal cancer syndrome)
B2M (Hypoproteinemia, hypercatabolic)
B3GALTL (Peters-plus syndrome)
B4GALT1 (Congenital disorder of glycosylation, type IId)
B4GALT7 (Ehlers-Danlos syndrome, progeroid form)
BAAT (Hypercholanemia, familial)
BAG3 (Myopathy, myofibrillar, BAG3-related)
BBS1 (Bardet-Biedl syndrome 1)
BBS10 (Bardet-Biedl syndrome 10)
BBS12 (Bardet-Biedl syndrome 12)
BBS2 (Bardet-Biedl syndrome 2)
BBS4 (Bardet-Biedl syndrome 4)
BBS5 (Bardet-Biedl syndrome 5)
BBS7 (Bardet-Biedl syndrome 7)
BCKDHA (Maple syrup urine disease, type Ia)
BCKDHB (Maple syrup urine disease, type Ib)
BCMO1 (Hypercarotenemia and vitamin A deficiency, autosomal dominant)
BCOR (Microphthalmia, syndromic 2)
BCS1L (Bjornstad syndrome)
BDA1B (Brachydactyly type A1)
BDNF (Central hypoventilation syndrome, congenital)
BEST1 (Best macular dystrophy)
BFSP1 (Cataract, cortical, juvenile-onset)
BFSP2 (Cataract, autosomal dominant, multiple types 1)
BIN1 (Myopathy, centronuclear, autosomal recessive)
BIRC4 (Lymphoproliferative syndrome, X-linked, 2)
BLK (Maturity-onset diabetes of the young, type 11)
BLNK (Agammaglobulinemia 4)
BLOC1S3 (Hermansky-Pudlak syndrome 8)
BMP15 (Ovarian dysgenesis 2)
BMP4 (Microphthalmia, syndromic 6)
BMPR1A (Juvenile polyposis syndrome, infantile form)
BMPR1B (Brachydactyly type A2)
BMPR2 (Pulmonary hypertension, familial primary)
BRAF (Cardiofaciocutaneous syndrome)
BRCA2 (Fanconi anemia, complementation group D1)
BRIP1 (Breast cancer, early-onset)
BRWD3 (Mental retardation, X-linked 93)
BSCL2 (Lipodystrophy, congenital generalized, type 2)
BSND (Bartter syndrome, type 4a)
BTD (Biotinidase deficiency)
BTK (Agammaglobulinemia and isolated hormone deficiency)
BUB1B (Mosaic variegated aneuploidy syndrome)
C10orf2 (Mitochondrial DNA depletion syndrome, hepatocerebral form)
C16orf57 (Poikiloderma with neutropenia)
C1GALT1C1 (Tn syndrome)
C1NH (Angioedema, hereditary, types I and II)
C1QTNF5 (Retinal degeneration, late-onset, autosomal dominant)
C20orf54 (Brown-Vialetto-Van Laere syndrome)
C20orf7 (Mitochondrial complex 1 deficiency)
C2orf25 (Homocystinuria, cblD type, variant 1)
C2orf37 (Woodhouse-Sakati syndrome)
C2orf71 (Retinitis pigmentosa 54)
C2orf86 (Bardet-Biedl syndrome 15)
C5 (C5 deficiency)
C6 (C6 deficiency)
C7 (C7 deficiency)
C7orf11 (Trichothiodystrophy, nonphotosensitive 1)
C7orf22 (Cerebral cavernous malformations-2)
C8orf38 (Leigh syndrome due to mitochondrial complex I deficiency)
CA2 (Osteopetrosis, autosomal recessive 3, with renal tubular acidosis)
CA4 (Retinitis pigmentosa-17)
CA8 (Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3)
CABC1 (Coenzyme Q10 deficiency)
CABP4 (Night blindness, congenital stationary, type 2B)
CACNA1A (Episodic ataxia, type 2)
CACNA1C (Brugada syndrome 3)
CACNA1F (Aland Island eye disease)
CACNA1S (Hypokalemic periodic paralysis type 1)
CACNA2D4 (Retinal cone dystrophy 4)
CACNB2 (Brugada syndrome 4)
CANT1 (Desbuquois dysplasia)
CAPN3 (Muscular dystrophy, limb-girdle, type 2A)
CARD9 (Candidiasis, familial chronic mucocutaneous, autosomal recessive)
CASK (FG syndrome 4)
CASP10 (Autoimmune lymphoproliferative syndrome, type II)
CASP8 (Autoimmune lymphoproliferative syndrome, type IIB)
CASQ2 (Ventricular tachycardia, catecholaminergic polymorphic, 2)
CASR (Hyperparathyroidism, neonatal)
CATSPER1 (Male infertility, nonsyndromic, autosomal recessive)
CAV1 (Lipodystrophy, congenital generalized, type 3)
CAV3 (Cardiomyopathy, familial hypertrophic)
CBG (Corticosteroid-binding globulin deficiency)
CBS (Homocystinuria, B6-responsive and nonresponsive types)
CC2D1A (Mental retardation, autosomal recessive 3)
CC2D2A (COACH syndrome)
CCBE1 (Hennekam lymphangiectasia-lymphedema syndrome)
CCDC50 (Deafness, autosomal dominant 44)
CCDC6 (Thyroid papillary carcinoma)
CCM1 (Cavernous malformations of CNS and retina)
CCND1 (von Hippel-Lindau disease, modification of)
CCT5 (Neuropathy, hereditary sensory, with spastic paraplegia)
CD151 (Nephropathy with pretibial epidermolysis bullosa and deafness)
CD19 (Immunodeficiency, common variable, 3)
CD247 (Immunodeficiency due to defect in CD3-zeta)
CD2AP (Glomerulosclerosis, focal segmental, 3)
CD320 (Methylmalonic aciduria due to transcobalamin receptor defect)
CD36 (Platelet glycoprotein IV deficiency)
CD3D (Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive)
CD3E (Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive)
CD59 (CD59 deficiency)
CD79B (Immunodeficiency, hypogammaglobulinemia, and reduced B cells)
CD81 (Immunodeficiency, common variable, 6)
CD8A (CD8 deficiency, familial)
CD96 (C syndrome)
CDAN1 (Anemia, congenital dyserythropoietic, type I)
CDH1 (Gastric cancer, familial diffuse)
CDH15 (Mental retardation, autosomal dominant 3)
CDH23 (Deafness, autosomal recessive 12)
CDH3 (Ectodermal dysplasia, ectrodactyly, and macular dystrophy)
CDHR1 (Cone-rod dystrophy 15)
CDK4 (Melanoma)
CDK5RAP2 (Microcephaly, primary autosomal recessive, 3)
CDKL5 (Angelman syndrome-like)
CDKN1B (Multiple endocrine neoplasia, type IV)
CDKN1C (Beckwith-Wiedemann syndrome)
CDKN2A (Li-Fraumeni syndrome)
CDSN (Hypotrichosis simplex of scalp)
CEBPE (Specific granule deficiency)
CEL (Maturity-onset diabetes of the young, type VIII)
CEMPJ (Microcephaly, primary autosomal recessive, 6)
CEP290 (Bardet-Biedl syndrome 14)
CERKL (Retinitis pigmentosa-26)
CETP (Hyperalphalipoproteinemia)
CFC1 (Double outlet right ventricle)
CFI (Complement factor I deficiency)
CFL2 (Nemaline myopathy 7)
CFTR (Congenital bilateral absence of vas deferens)
CHAT (Myasthenic syndrome, congenital, associated with episodic apnea)
CHD7 (CHARGE syndrome)
CHEK2 (Li-Fraumeni syndrome)
CHM (Choroideremia)
CHMP2B (Dementia, familial, nonspecific)
CHMP4B (Cataract, posterior polar, 3)
CHN1 (Duane retraction syndrome 2)
CHRNA1 (Multiple pterygium syndrome, lethal type)
CHRNA2 (Epilepsy, nocturnal frontal lobe, type 4)
CHRNA4 (Epilepsy, nocturnal frontal lobe, 1)
CHRNB1 (Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency)
CHRNB2 (Epilepsy, nocturnal frontal lobe, 3)
CHRND (Multiple pterygium syndrome, lethal type)
CHRNE (Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency)
CHRNG (Escobar syndrome)
CHS1 (Chediak-Higashi syndrome)
CHST14 (Ehlers-Danlos syndrome, musculocontractural type)
CHST3 (Spondyloepiphyseal dysplasia with congenital joint dislocations)
CHST6 (Macular corneal dystrophy)
CHUK (Cocoon syndrome)
CHX10 (Microphthalmia, isolated 2)
CIRH1A (Cirrhosis, North American Indian childhood type)
CISD2 (Wolfram syndrome 2)
CLCF1 (Cold-induced sweating syndrome 1)
CLCN1 (Myotonia congenita, dominant)
CLCN5 (Dent disease)
CLCN7 (Osteopetrosis, autosomal dominant 2)
CLCNKA (Bartter syndrome, type 4b, digenic)
CLCNKB (Bartter syndrome, type 3)
CLDN1 (Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis)
CLDN16 (Hypomagnesemia, primary)
CLDN19 (Hypomagnesemia, renal, with ocular involvement)
CLEC7A (Candidiasis, familial chronic mucocutaneous, autosomal dominant)
CLN3 (Ceroid lipofuscinosis, neuronal 3, juvenile)
CLN5 (Ceroid-lipofuscinosis, neuronal-5, variant late infantile)
CLN6 (Ceroid-lipofuscinosis, neuronal-6, variant late infantile)
CLN8 (Ceroid lipofuscinosis, neuronal 8)
CLRN1 (Usher syndrome, type 3)
CNGA3 (Achromatopsia-2)
CNGB1 (Retinitis pigmentosa-45)
CNGB3 (Achromatopsia-3)
CNNM4 (Jalili syndrome)
CNTN1 (Myopathy, congenital, Compton-North)
CNTNAP2 (Cortical dysplasia-focal epilepsy syndrome)
COCH (Deafness, autosomal dominant 9)
COG1 (Cerebrocostomandibular-like syndrome)
COG4 (Congenital disorder of glycosylation, type IIj)
COG7 (Congenital disorder of glycosylation, type IIe)
COG8 (Congenital disorder of glycosylation, type IIh)
COH1 (Cohen syndrome)
COL11A1 (Marshall syndrome)
COL11A2 (Deafness, autosomal dominant 13)
COL17A1 (Epidermolysis bullosa, junctional, non-Herlitz type)
COL18A1 (Knobloch syndrome, type 1)
COL1A1 (Caffey disease)
COL1A2 (Ehlers-Danlos syndrome, cardiac valvular form)
COL2A1 (Achondrogenesis-hypochondrogenesis type 2)
COL3A1 (Ehlers-Danlos syndrome, type III)
COL4A1 (Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps)
COL4A3 (Alport syndrome, autosomal recessive)
COL4A4 (Alport syndrome, autosomal recessive)
COL4A5 (Alport syndrome)
COL4A6 (Leiomyomatosis, diffuse, with Alport syndrome)
COL5A1 (Ehlers-Danlos syndrome, type I)
COL5A2 (Ehlers-Danlos syndrome, type I)
COL6A1 (Bethlem myopathy)
COL6A2 (Bethlem myopathy)
COL6A3 (Bethlem myopathy)
COL7A1 (EBD inversa)
COL8A2 (Corneal dystrophy polymorphous posterior, 2)
COL9A2 (Epiphyseal dysplasia, multiple, 2)
COL9A3 (Epiphyseal dysplasia, multiple, 3)
COLQ (Endplate acetylcholinesterase deficiency)
COMP (Epiphyseal dysplasia, multiple 1)
COQ2 (Coenzyme Q10 deficiency)
COQ9 (Coenzyme Q10 deficiency)
COX15 (Leigh syndrome due to cytochrome c oxidase deficiency)
COX4I2 (Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis)
COX6B1 (Cytochrome C oxidase deficiency)
CP (Cerebellar ataxia)
CPN1 (Carboxypeptidase N deficiency)
CPOX (Coproporphyria)
CPS1 (Carbamoyl phosphate synthetase I deficiency)
CPT1A (CPT deficiency, hepatic, type IA)
CPT2 (CPT deficiency, hepatic, type II)
CRB1 (Pigmented paravenous chorioretinal atrophy)
CRBN (Mental retardation, autosomal recessive 2A)
CREBBP (Rubenstein-Taybi syndrome)
CRELD1 (Atrioventricular septal defect, partial, with heterotaxy syndrome)
CRFB4 (Inflammatory bowel disease 25)
CRLF1 (Cold-induced sweating syndrome)
CRTAP (Osteogenesis imperfecta, type IIB)
CRX (Cone-rod retinal dystrophy-2)
CRYAB (Myopathy, cardioskeletal, desmin-related, with cataract)
CRYBA1 (Cataract, congenital zonular, with sutural opacities)
CRYBA4 (Cataract, lamellar 2)
CRYBB1 (Cataract, congenital nuclear, autosomal recessive 3)
CRYBB2 (Cataract, cerulean, type 2)
CRYBB3 (Cataract, congenital nuclear, 2)
CRYGC (Cataract, Coppock-like)
CRYGD (Cataract, congenital, cerulean type, 3)
CSF2RA (Pulmonary alveolar proteinosis)
CSF3R (Neutrophilia, hereditary)
CSMF (Chondrosarcoma, extraskeletal myxoid)
CSNB1 (Night blindness, congenital stationary, type 1)
CSPG6 (Cornelia de Lange syndrome 3)
CSRP3 (Cardiomyopathy, dilated, 1M)
CST3 (Cerebral amyloid angiopathy)
CSTB (Epilepsy, progressive myoclonic 1)
CTDP1 (Congenital cataracts, facial dysmorphism, and neuropathy)
CTH (Cystathioninuria)
CTNNB1 (Hepatocellular carcinoma)
CTNND2 (Mental retardation in cri-du-chat syndrome)
CTNS (Cystinosis, late-onset juvenile or adolescent nephropathic)
CTSA (Galactosialidosis)
CTSC (Haim-Munk syndrome)
CTSD (Ceroid lipofuscinosis, neuronal, 10)
CTSK (Pycnodysostosis)
CUBN (Megaloblastic anemia-1, Finnish type)
CUL4B (Mental retardation syndrome, X-linked, Cabezas type)
CUL7 (3-M syndrome)
CXCR4 (WHIM syndrome)
CYB5A (Methemoglobinemia, type IV)
CYB5R3 (Methemoglobinemia, type I)
CYBA (Chronic granulomatous disease, autosomal, due to deficiency of CYBA)
CYBB (Chronic granulomatous disease, X-linked)
CYCS (Thrombocytopenia 4)
CYLD1 (Brooke-Spiegler syndrome)
CYP11A (Lipoid congenital adrenal hyperplasia)
CYP11B1 (Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency)
CYP11B2 (Hypoaldosteronism, congenital, due to CMO I deficiency)
CYP17A1 (17-alpha-hydroxylase/17,20-lyase deficiency)
CYP19A1 (Aromatase deficiency)
CYP1B1 (Glaucoma 3A, primary congenital)
CYP27A1 (Cerebrotendinous xanthomatosis)
CYP27B1 (Vitamin D-dependent rickets, type I)
CYP2A6 (Coumarin resistance)
CYP2C (Clopidogrel, impaired responsiveness to)
CYP2C9 (Warfarin sensitivity)
CYP2R1 (Rickets due to defect in vitamin D 25-hydroxylation)
CYP4F22 (Ichthyosis, lamellar, 3)
CYP4V2 (Bietti crystalline corneoretinal dystrophy)
CYP7B1 (Spastic paraplegia-5A)
D2HGDH (D-2-hydroxyglutaric aciduria)
DARS2 (Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation)
DAX1 (Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism)
DBH (Dopamine beta-hydroxylase deficiency)
DBT (Maple syrup urine disease, type II)
DCC (Mirror movements, congenital)
DCLRE1C (Omenn syndrome)
DCN (Corneal dystrophy, congenital stromal)
DCTN1 (Neuropathy, distal hereditary motor, type VIIB)
DCX (Lissencephaly, X-linked)
DCXR (Pentosuria)
DDB2 (Xeroderma pigmentosum group E, DDB-negative subtype)
DDC (Aromatic L-amino acid decarboxylase deficiency)
DDIT3 (Myxoid liposarcoma)
DDR2 (Spondylometaepiphyseal dysplasia, short limb-hand type)
DDX11 (Warsaw breakage syndrome)
DES (Cardiomyopathy, dilated, 1I)
DFNA5 (Deafness, autosomal dominant 5)
DGUOK (Mitochondrial DNA-depletion syndrome, hepatocerebral form)
DHCR24 (Desmosterolosis)
DHCR7 (Smith-Lemli-Opitz syndrome)
DHDPSL (Hyperoxaluria, primary, type III)
DHODH (Miller syndrome)
DHS (Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema)
DIAPH1 (Deafness, autosomal dominant 1)
DIAPH2 (Premature ovarian failure)
DICER1 (Pleuropulmonary blastoma)
DIP2B (Mental retardation, FRA12A type)
DIRC2 (Renal cell carcinoma)
DISC2 (Schizophrenia)
DJ1 (Parkinson disease 7, autosomal recessive early-onset)
DKC1 (Dyskeratosis congenita-1)
DLAT (Pyruvate dehydrogenase E2 deficiency)
DLD (Leigh syndrome)
DLEC1 (Esophageal cancer)
DLL3 (Spondylocostal dysostosis, autosomal recessive, 1)
DLX3 (Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism)
DMD (Becker muscular dystrophy)
DMGDH (Dimethylglycine dehydrogenase deficiency)
DMP1 (Hypophosphatemic rickets, AR)
DMPK (Myotonic dystrophy)
DNAH11 (Ciliary dyskinesia, primary, 7, with or without situs inversus)
DNAH5 (Ciliary dyskinesia, primary, 3, with or without situs inversus)
DNAI1 (Ciliary dyskinesia, primary, 1, with or without situs inversus)
DNAI2 (Ciliary dyskinesia, primary, 9, with or without situs inversus)
DNAJC19 (3-Methylglutaconic aciduria type V)
DNM2 (Charcot-Marie-Tooth disease, axonal, type 2M)
DNMT3B (Immunodeficiency-centromeric instability-facial anomalies syndrome)
DOCK8 (Hyper-IgE recurrent infection syndrome, autosomal recessive)
DOK7 (Fetal akinesia deformation sequence)
DPAGT2 (Congenital disorder of glycosylation, type Ij)
DPM1 (Congenital disorder of glycosylation, type Ie)
DPM3 (Congenital disorder of glycosylation, type Io)
DPP6 (Ventricular fibrillation, paroxysmal familial, 2)
DPYD (Dihydropyrimidine dehydrogenase deficiency)
DPYS (Dihydropyrimidinuria)
DRD2 (Dystonia, myoclonic)
DSC2 (Arrhythmogenic right ventricular dysplasia, familial, 11)
DSC3 (Hypotrichosis and recurrent skin vesicles)
DSG1 (Keratosis palmoplantaris striata I)
DSG2 (Arrhythmogenic right ventricular dysplasia, familial, 10)
DSG4 (Hypotrichosis, localized, autosomal recessive)
DSP (Arrhythmogenic right ventricular dysplasia 8)
DSPP (Deafness, autosomal dominant 36, with dentinogenesis)
DTNA (Left ventricular noncompaction 1, with or without congenital heart defects)
DTNBP1 (Hermansky-Pudlak syndrome 7)
DUOX2 (Thryoid dyshormonogenesis 6)
DUOXA2 (Thyroid dyshormonogenesis 5)
DXS423E (Cornelia de Lange syndrome 2)
DYM (Dyggve-Melchior-Clausen disease)
DYNC2H1 (Asphyxiating thoracic dystrophy 3)
DYSF (Miyoshi myopathy)
DYT1 (Dystonia-1, torsion)
EBP (Chondrodysplasia punctata, X-linked dominant)
ECM1 (Lipoid proteinosis)
ED1 (Ectodermal dysplasia, anhidrotic, X-linked)
EDAR (Ectodermal dysplasia, hypohidrotic, autosomal dominant)
EDARADD (Ectodermal dysplasia, anhidrotic, autosomal dominant)
EDN3 (Central hypoventilation syndrome, congenital)
EDNRA (Migraine, resistance to)
EDNRB (ABCD syndrome)
EFEMP1 (Doyne honeycomb degeneration of retina)
EFEMP2 (Cutis laxa, autosomal recessive, type I)
EFNB1 (Craniofrontonasal dysplasia)
EGF (Hypomagnesemia 4, renal)
EGFR (Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in)
EGLN1 (Erythrocytosis, familial, 3)
EGR2 (Charcot-Marie-Tooth disease type 1D)
EHMT1 (Kleefstra syndrome)
EIF2AK3 (Wolcott-Rallison syndrome)
EIF2B1 (Leukoencephalopathy with vanishing white matter)
EIF2B2 (Leukoencephalopathy with vanishing white matter)
EIF2B3 (Leukoencephalopathy with vanishing white matter)
EIF2B4 (Leukoencephaly with vanishing white matter)
EIF2B5 (Leukoencephalopathy with vanishing white matter)
ELANE (Hematopoiesis, cyclic)
ELN (Cutis laxa, AD)
ELOVL4 (Macular dystrophy, autosomal dominant, chromosome 6-linked)
EMD (Emery-Dreifuss muscular dystrophy)
EMG1 (Bowen-Conradi syndrome)
EMX2 (Schizencephaly)
ENAM (Amelogenesis imperfecta, type IB)
ENG (Hereditary hemorrhagic telangiectasia-1)
ENO3 (Glycogen storage disease XIII)
ENPP1 (Arterial calcification, generalized, of infancy)
EP300 (Rubinstein-Taybi syndrome)
EPAS1 (Erythrocytosis, familial, 4)
EPB41 (Elliptocytosis-1)
EPB42 (Spherocytosis, hereditary, type 5)
EPB72 (Stomatocytosis I)
EPCAM (Colorectal cancer, hereditary nonpolyposis, type I)
EPHA2 (Cataract, posterior polar, 1)
EPHB2 (Prostate cancer, progression and metastasis of)
EPHX1 (Hypercholanemia, familial)
EPM2A (Epilepsy, myoclonic, Lafora type)
EPX (Eosinophil peroxidase deficiency)
ERBB3 (Lethal congenital contractural syndrome 2)
ERCC1 (Cerebrooculofacioskeletal syndrome 4)
ERCC2 (Cerebrooculofacioskeletal syndrome 2)
ERCC3 (Trichothiodystrophy)
ERCC4 (Xeroderma pigmentosum group F)
ERCC5 (Xeroderma pigmentosum group G)
ERCC6 (Cerebrooculofacioskeletal syndrome 1)
ERCC8 (Cockayne syndrome type A)
ESCO2 (Roberts syndrome)
ESPN (Deafness, autosomal recessive 36)
ESRRB (Deafness, autosomal recessive 35)
ETFA (Glutaricaciduria, type IIA)
ETFB (Glutaricaciduria, type IIB)
ETFDH (Glutaricaciduria, type IIC)
ETHE1 (Ethylmalonic encephalopathy)
EVC (Ellis-van Creveld syndrome)
EWSR1 (Ewing sarcoma)
EXT1 (Chondrosarcoma)
EXT2 (Exostoses, multiple, type 2)
EYA1 (Branchiootorenal syndrome)
EYA4 (Cardiomyopathy, dilated, 1J)
EYS (Retinitis pigmentosa-25)
F11 (Factor XI deficiency, autosomal dominant)
F12 (Angioedema, hereditary, type III)
F13A1 (Factor XIIIA deficiency)
F13B (Factor XIIIB deficiency)
F5 (Factor V deficiency)
F9 (Hemophilia B)
FA2H (Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia)
FAAP95 (Fanconi anemia, complementation group B)
FAM123B (Osteopathia striata with cranial sclerosis)
FAM126A (Leukodystrophy, hypomyelinating, 5)
FAM134B (Neuropathy, hereditary sensory and autonomic, type IIB)
FAM20C (Raine syndrome)
FAM58A (STAR syndrome)
FAM83H (Amelogenesis imperfecta, type 3)
FANCA (Fanconi anemia, complementation group A)
FANCI (Fanconi anemia, complementation group I)
FASTKD2 (Mitochondrial complex IV deficiency)
FBLN1 (Synpolydactyly, 3/3’4, associated with metacarpal and metatarsal synostoses)
FBLN5 (Cutis laxa, autosomal dominant)
FBN1 (Ectopia lentis, familial)
FBN2 (Contractural arachnodactyly, congenital)
FBP1 (Fructose-1,6-bisphosphatase deficiency)
FBXO7 (Parkinson disease 15, autosomal recessive)
FCGR2C (Thrombocytopenic purpura, autoimmune)
FCYT (Polycystic kidney and hepatic disease)
FECH (Protoporphyria, erythropoietic, autosomal dominant)
FGA (Afibrinogenemia, congenital)
FGB (Afibrinogenemia, congenital)
FGD1 (Aarskog-Scott syndrome)
FGD4 (Charcot-Marie-Tooth disease type 4H)
FGF10 (Aplasia of lacrimal and salivary glands)
FGF23 (Hypophosphatemic rickets, autosomal dominant)
FGF3 (Deafness, congenital with inner ear agenesis, microtia, and microdontia)
FGF8 (Kallmann syndrome 6)
FGF9 (Multiple synostoses syndrome 3)
FGFR1 (Hypogonadotropic hypogonadism)
FGFR2 (Antley-Bixler syndrome)
FGFR3 (Achondroplasia)
FH (Fumarase deficiency)
FHL1 (Emery-Dreifuss muscular dystrophy 6)
FIG4 (Amyotrophic lateral sclerosis 11)
FIGLA (Premature ovarian failure 6)
FKBP10 (Osteogenesis imperfecta, type VI)
FKTN (Cardiomyopathy, dilated, 1X)
FLCN (Birt-Hogg-Dube syndrome)
FLG (Ichthyosis vulgaris)
FLJ14813 (Thrombocytopenia-2)
FLJ22792 (Premature ovarian failure 2B)
FLNA (FG syndrome 2)
FLNB (Atelosteogenesis, type III)
FLNC (Myopathy, myofibrillar, filamin C-related)
FLT4 (Lymphedema, hereditary I)
FLVCR2 (Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome)
FMO3 (Trimethylaminuria)
FMR1 (Fragile X syndrome)
FN1 (Glomerulopathy with fibronectin deposits 2)
FOLR1 (Neurodegeneration due to cerebral folate transport deficiency)
FOXC1 (Axenfeld-Rieger syndrome, type 3)
FOXC2 (Lymphedema-distichiasis syndrome)
FOXE1 (Bamforth-Lazarus syndrome)
FOXE3 (Anterior segment mesenchymal dysgenesis)
FOXF1 (Alveolar capillary dysplasia with misalignment of pulmonary veins)
FOXG1B (Rett syndrome, congenital variant)
FOXI1 (Enlarged vestibular aqueduct)
FOXL2 (Blepharophimosis, epicanthus inversus, and ptosis, type 1)
FOXN1 (T-cell immunodeficiency, congenital alopecia, and nail dystrophy)
FOXO1A (Rhabdomyosarcoma, alveolar)
FOXP2 (Speech-language disorder-1)
FOXP3 (Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked)
FRAS1 (Fraser syndrome)
FREM1 (Bifid nose with or without anorectal and renal anomalies)
FREM2 (Fraser syndrome)
FRMD7 (Nystagmus 1, congenital, X-linked)
FSCN2 (Retinitis pigmentosa-30)
FSHB (Follicle-stimulating hormone deficiency, isolated)
FSHR (Ovarian dysgenesis 1)
FST (Polycystic ovary syndrome)
FTCD (Glutamate formiminotransferase deficiency)
FTL (Hyperferritinemia-cataract syndrome)
FTO (Growth retardation, developmental delay, coarse facies, and early death)
FTSJ1 (Mental retardation, X-linked-9)
FUCA1 (Fucosidosis)
FUS (Amyotrophic lateral sclerosis 6, autosomal recessive)
FXN (Friedreich ataxia)
FXYD2 (Hypomagnesemia-2, renal)
FZD4 (Exudative vitreoretinopathy)
G6PC3 (Darsun syndrome)
GAA (Glycogen storage disease II)
GABRD (Epilepsy, juvenile myoclonic, susceptibility to)
GABRG2 (Epilepsy, generalized, with febrile seizures plus, type 3)
GAD1 (Cerebral palsy, spastic, symmetric, autosomal recessive)
GALC (Krabbe disease)
GALE (Galactose epimerase deficiency)
GALK1 (Galactokinase deficiency with cataracts)
GALNS (Mucopolysaccharidosis IVA)
GALNT3 (Tumoral calcinosis, hyperphosphatemic, familial)
GALT (Galactosemia)
GAMT (GAMT deficiency)
GAN (Giant axonal neuropathy-1)
GARS (Charcot-Marie-Tooth disease type 2D)
GATA1 (Dyserythropoietic anemia with thrombocytopenia)
GATA3 (Hypoparathyroidism, sensorineural deafness, and renal dysplasia)
GATA4 (Atrial septal defect-2)
GATM (AGAT deficiency)
GBA (Gaucher disease, perinatal lethal)
GBE1 (Glycogen storage disease IV)
GCDH (Glutaricaciduria, type I)
GCH1 (Dystonia, DOPA-responsive, with or without hyperphenylalainemia)
GCK (Diabetes mellitus, gestational)
GCLC (Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency)
GCMB (Hypoparathyroidism, familial isolated)
GCS1 (Congenital disorder of glycosylation, type IIb)
GCSH (Glycine encephalopathy)
GDAP1 (Charcot-Marie-Tooth disease type 4A)
GDF1 (Double outlet right ventricle)
GDF5 (Acromesomelic dysplasia, Hunter-Thompson type)
GDF6 (Klippel-Feil syndrome, autosomal dominant)
GDI1 (Mental retardation, X-linked nonspecific)
GDNF (Central hypoventilation syndrome)
GFAP (Alexander disease)
GFER (Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay)
GFI1 (Neutropenia, nonimmune chronic idiopathic, of adults)
GGCX (Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency)
GH1 (Growth hormone deficiency, isolated, type IA)
GHR (Laron dwarfism)
GHRHR (Growth hormone deficiency, isolated, type IB)
GHSR (Short stature)
GIF (Intrinsic factor deficiency)
GIGYF2 (Parkinson disease 11)
GINGF2 (Fibromatosis, gingival, 2)
GJA1 (Atrioventricular septal defect)
GJA3 (Cataract, zonular pulverulent-3)
GJA5 (Atrial fibrillation)
GJA8 (Cataract, zonular pulverulent-1)
GJB1 (Charcot-Marie-Tooth neuropathy, X-linked dominant, 1)
GJB2 (Bart-Pumphrey syndrome)
GJB3 (Deafness, autosomal dominant 2B)
GJB4 (Erythrokeratodermia variabilis with erythema gyratum repens)
GJB6 (Deafness, autosomal dominant 3B)
GJC2 (Leukodystrophy, hypomyelinating, 2)
GK (Glycerol kinase deficiency)
GLA (Fabry disease)
GLB1 (GM1-gangliosidosis, type I)
GLC1B (Glaucoma 1B, primary open angle, adult onset)
GLDC (Glycine encephalopathy)
GLE1 (Arthrogryposis, lethal, with anterior horn cell disease)
GLI2 (Holoprosencephaly-9)
GLI3 (Acrocallosal syndrome)
GLIS2 (Nephronophthisis 7)
GLIS3 (Diabetes mellitus, neonatal, with congenital hypothyroidism)
GLML (Glomuvenous malformations)
GLRA1 (Startle disease/hyperekplexia, autosomal dominant)
GLRB (Hyperekplexia, autosomal recessive)
GLRX5 (Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive)
GLUD1 (Hyperinsulinism-hyperammonemia syndrome)
GLUL (Glutamine deficiency, congenital)
GM2A (GM2-gangliosidosis, AB variant)
GNAI2 (Ventricular tachycardia, idiopathic)
GNAS (McCune-Albright syndrome)
GNASAS (Pseudohypoparathyroidism, type IB)
GNAT1 (Night blindness, congenital stationary, autosomal dominant 3)
GNE (Inclusion body myopathy, autosomal recessive)
GNMT (Glycine N-methyltransferase deficiency)
GNPAT (Chondrodysplasia punctata, rhizomelic, type 2)
GNPTAB (Mucolipidosis II alpha/beta)
GNPTAG (Mucolipidosis III gamma)
GNRH1 (Hypogonadotropic hypogonadism due to GNRH deficiency)
GNRHR (Fertile eunuch syndrome)
GNS (Mucopolysaccharidosis type IIID)
GOPC (Globozoospermia)
GP1BA (Bernard-Soulier syndrome, benign autosomal dominant)
GP1BB (Bernard-Soulier syndrome, type B)
GP9 (Bernard-Soulier syndrome, type C)
GPC3 (Simpson-Golabi-Behmel syndrome, type 1)
GPC6 (Omodysplasia 1)
GPD1L (Brugada syndrome 2)
GPHN (Hyperekplexia)
GPI (Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency)
GPR143 (Nystagmus 6, congenital, X-linked)
GPR56 (Polymicrogyria, bilateral frontoparietal)
GPR98 (Convulsions, familial febrile, 4)
GRHL2 (Deafness, autosomal dominant 28)
GRHPR (Hyperoxaluria, primary, type II)
GRIA3 (Mental retardation, X-linked 94)
GRIK2 (Mental retardation, autosomal recessive, 6)
GRK1 (Oguchi disease-2)
GRM6 (Night blindness, congenital stationary, type 1B)
GRN (Frontotemporal lobar degeneration with ubiquitin-positive inclusions)
GRXCR1 (Deafness, autosomal recessive 25)
GSN (Amyloidosis, Finnish type)
GSS (Glutathione synthetase deficiency)
GTF2H5 (Trichothiodystrophy, complementation group A)
GUCA1A (Cone dystrophy-3)
GUCY2D (Cone-rod dystrophy)
GUSB (Mucopolysaccharidosis VII)
GYG1 (Glycogen storage disease XV)
GYS1 (Glycogen storage disease 0, muscle)
GYS2 (Glycogen storage disease type 0)
H19 (Beckwith-Wiedemann syndrome)
H6PD (Cortisone reductase deficiency)
HADHA (Fatty liver, acute, of pregnancy)
HADHB (Trifunctional protein deficiency)
HADHSC (3-hydroxyacyl-coa dehydrogenase deficiency)
HAMP (Hemochromatosis, type 2B)
HAX1 (Neutropenia, severe congenital, autosomal recessive 3)
HBA1 (Heinz body anemias, alpha-)
HBA2 (Heinz body anemia)
HBB (Heinz body anemias, beta-)
HBG1 (Fetal hemoglobin quantitative trait locus 1)
HBG2 (Fetal hemoglobin quantitative trait locus 1)
HCCS (Microphthalmia, syndromic 7)
HCF2 (Thrombophilia due to heparin cofactor II deficiency)
HCN4 (Brugada syndrome 8)
HCRT (Narcolepsy 1)
HESX1 (Growth hormone deficiency with pituitary anomalies)
HEXA (GM2-gangliosidosis, several forms)
HEXB (Sandhoff disease, infantile, juvenile, and adult forms)
HF1 (Complement factor H deficiency)
HGD (Alkaptonuria)
HGF (Deafness, autosomal recessive 39)
HGSNAT (Sanfilippo syndrome, type C)
HIBCH (3-hydroxyisobutryl-CoA hydrolase deficiency)
HJV (Hemochromatosis, type 2A)
HK1 (Hemolytic anemia due to hexokinase deficiency)
HLCS (Holocarboxylase synthetase deficiency)
HMBS (Porphyria, acute intermittent)
HMGCS2 (HMG-CoA synthase-2 deficiency)
HMX1 (Oculoauricular syndrome)
HNF1A (Diabetes mellitus, insulin-dependent, 20)
HNF1B (Diabetes mellitus, noninsulin-dependent)
HNF4A (MODY, type I)
HOXA1 (Athabaskan brainstem dysgenesis syndrome)
HOXA11 (Radioulnar synostosis with amegakaryocytic thrombocytopenia)
HOXA13 (Guttmacher syndrome)
HOXA2 (Microtia, hearing impairment, and cleft palate)
HOXD10 (Vertical talus, congenital)
HOXD13 (Brachydactyly type D)
HPD (Hawkinsinuria)
HPGD (Cranioosteoarthropathy)
HPRP3 (Retinitis pigmentosa-18)
HPRT1 (HPRT-related gout)
HPS1 (Hermansky-Pudlak syndrome 1)
HPS3 (Hermansky-Pudlak syndrome 3)
HPS4 (Hermansky-Pudlak syndrome 4)
HPS5 (Hermansky-Pudlak syndrome 5)
HPS6 (Hermansky-Pudlak syndrome 6)
HPSE2 (Urofacial syndrome)
HR (Alopecia universalis)
HRAS (Costello syndrome)
HRG (Thrombophilia due to elevated HRG)
HRPT2 (Hyperparathyroidism, familial primary)
HSD11B1 (Cortisone reductase deficiency)
HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency)
HSD17B3 (Pseudohermaphroditism, male, with gynecomastia)
HSD17B4 (D-bifunctional protein deficiency)
HSD3B7 (Cholestasis, progressive familial intrahepatic 4)
HSF4 (Cataract, lamellar)
HSPB1 (Charcot-Marie-Tooth disease, axonal, type 2F)
HSPB3 (Neuronopathy, distal hereditary motor, type IIC)
HSPB8 (Charcot-Marie-Tooth disease, axonal, type 2L)
HSPD1 (Leukodystrophy, hypomyelinating, 4)
HSPG2 (Dyssegmental dysplasia, Silverman-Handmaker type)
HTRA2 (Parkinson disease 13)
HUWE1 (Mental retardation, X-linked syndromic, Turner type)
HVEC (Cleft lip/palate-ectodermal dysplasia syndrome)
HYAL1 (Mucopolysaccharidosis type IX)
HYLS1 (Hydrolethalus syndrome)
ICHYN (Ichthyosis, congenital, autosomal recessive)
ICK (Endocrine-cerebroosteodysplasia)
ICOS (Immunodeficiency, common variable, 1)
IDUA (Mucopolysaccharidosis Ih)
IFNGR1 (Mycobacterial infection, atypical, familial disseminated)
IFT122 (Cranioectodermal dysplasia)
IFT80 (Asphyxiating thoracic dystrophy 2)
IGBP1 (Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia)
IGF1 (Growth retardation with deafness and mental retardation due to IGF1 deficiency)
IGF1R (Insulin-like growth factor I, resistance to)
IGHM (Agammaglobulinemia 1)
IGHMBP2 (Neuronopathy, distal hereditary motor, type VI)
IGLL1 (Agammaglobulinemia 2)
IHH (Acrocapitofemoral dysplasia)
IKBKAP (Dysautonomia, familial)
IKBKG (Ectodermal dysplasia, hypohidrotic, with immune deficiency)
IL1RAPL1 (Mental retardation, X-linked, 21/34)
IL1RN (Interleukin 1 receptor antagonist deficiency)
IL2RA (Interleukin-2 receptor, alpha chain, deficiency of)
IL2RG (Severe combined immunodeficiency, X-linked)
IL7R (Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type)
IMPDH1 (Retinitis pigmentosa-10)
INF2 (Glomerulosclerosis, focal segmental, 5)
ING1 (Squamous cell carcinoma, head and neck)
INPP5E (Joubert syndrome 1)
INS (Diabetes mellitus, insulin-dependent, 2)
INSL3 (Cryptorchidism, idiopathic)
INSR (Diabetes mellitus, insulin-resistant, with acanthosis nigricans)
INVS (Nephronophthisis 2, infantile)
IPF1 (MODY, type IV)
IQCB1 (Senior-Loken syndrome 5)
IQSEC2 (Mental retardation, X-linked 1)
IRAK4 (Invasive pneumococcal disease, recurrent isolated, 1)
IRF6 (Orofacial cleft 6)
ISCU (Myopathy with lactic acidosis, hereditary)
ITCH (Autoimmune disease, syndromic multisystem)
ITGA2B (Glanzmann thrombasthenia, type A)
ITGA6 (Epidermolysis bullosa, junctional, with pyloric stenosis)
ITGA7 (Muscular dystrophy, congenital, due to ITGA7 deficiency)
ITGB2 (Leukocyte adhesion deficiency)
ITGB4 (Epidermolysis bullosa of hands and feet)
ITK (Lymphoproliferative syndrome, EBV-associated, autosomal, 1)
ITM2B (Dementia, familial British)
IVD (Isovaleric acidemia)
IYD (Thyroid dyshormonogenesis 4)
JAG1 (Alagille syndrome)
JAK2 (Myelofibrosis, idiopathic)
JUP (Arrhythmogenic right ventricular dysplasia, familial, 12)
KANK1 (Cerebral palsy, spastic quadriplegic)
KARS (Charcot-Marie-Tooth disease, recessive intermediate, B)
KCNA1 (Episodic ataxia/myokymia syndrome)
KCNA5 (Atrial fibrillation, familial, 7)
KCNE1 (Jervell and Lange-Nielsen syndrome 2)
KCNE2 (Atrial fibrillation, familial, 4)
KCNE3 (Brugada syndrome 6)
KCNH2 (Short QT syndrome-1)
KCNJ1 (Bartter syndrome, type 2)
KCNJ10 (SESAME syndrome)
KCNJ11 (Diabetes mellitus, permanent neonatal, with neurologic features)
KCNJ13 (Snowflake vitreoretinal degeneration)
KCNJ2 (Long QT syndrome-7)
KCNJ5 (Long QT syndrome 13)
KCNK9 (Birk-Barel mental retardation dysmorphism syndrome)
KCNMA1 (Generalized epilepsy and paroxysmal dyskinesia)
KCNQ1 (Atrial fibrillation, familial, 3)
KCNQ10T1 (Beckwith-Wiedemann syndrome)
KCNQ2 (Epilepsy, benign, neonatal, type 1)
KCNQ3 (Epilepsy, benign neonatal, type 2)
KCNQ4 (Deafness, autosomal dominant 2A)
KCNV2 (Retinal cone dystrophy 3B)
KCTD7 (Epilepsy, progressive myoclonic 3)
KDM5C (Mental retardation, X-linked, syndromic, JARID1C-related)
KERA (Cornea plana congenita, recessive)
KIAA0196 (Spastic paraplegia-8)
KIAA1279 (Goldberg-Shpritzen megacolon syndrome)
KIF1B (Charcot-Marie-Tooth disease type 2A1)
KIF21A (Fibrosis of extraocular muscles, congenital, 1)
KIF5A (Spastic paraplegia 10)
KIND1 (Kindler syndrome)
KIND3 (Leukocyte adhesion deficiency, type III)
KIRREL3 (Mental retardation, autosomal dominant 4)
KISS1R (Hypogonadotropic hypogonadism)
KIT (Germ cell tumors)
KITLG (Hyperpigmentation, familial progressive)
KL (Tumoral calcinosis, hyperphosphatemic)
KLF1 (Blood group–Lutheran inhibitor)
KLF11 (Maturity-onset diabetes of the young, type VII)
KLHDC8B (Hodgkin lymphoma)
KLHL7 (Retinitis pigmentosa-42)
KLK4 (Amelogenesis imperfecta, type IIA1)
KLKB1 (Fletcher factor deficiency)
KRAS (Bladder cancer)
KRT1 (Epidermolytic hyperkeratosis)
KRT10 (Epidermolytic hyperkeratosis)
KRT12 (Meesmann corneal dystrophy)
KRT13 (White sponge nevus)
KRT14 (Dermatopathia pigmentosa reticularis)
KRT16 (Pachyonychia congenita, Jadassohn-Lewandowsky type)
KRT17 (Pachyonychia congenita Jackson Lawler type)
KRT2 (Ichthyosis bullosa of Siemens)
KRT3 (Meesmann corneal dystrophy)
KRT4 (White sponge nevus)
KRT5 (Dowling-Degos disease)
KRT6A (Pachyonychia congenita, Jadassohn-Lewandowsky type)
KRT6B (Pachyonychia congenita Jackson Lawler type)
KRT74 (Woolly hair, autosomal dominant)
KRT81 (Monilethrix)
KRT83 (Monilethrix)
KRT85 (Ectodermal dysplasia, ‚pure‘ hair-nail type)
KRT86 (Monilethrix)
KRT9 (Epidermolytic palmoplantar keratoderma)
KTU (Ciliary dyskinesia, primary, 10)
L1CAM (Corpus callosum, partial agenesis of)
L2HGDH (L-2-hydroxyglutaric aciduria)
LAMA2 (Muscular dystrophy, congenital merosin-deficient)
LAMA3 (Epidermolysis bullosa, generalized atrophic benign)
LAMB2 (Nephrosis, congenital, with or without ocular abnormalities)
LAMB3 (Epidermolysis bullosa, junctional, Herlitz type)
LAMC2 (Epidermolysis bullosa, junctional, Herlitz type)
LAMP2 (Glycogen storage disease IIb)
LAMR1 (Arrhythmogenic right ventricular dysplasia 5)
LBN (Ellis-van Creveld syndrome)
LBR (Greenberg dysplasia)
LCA5 (Leber congenital amaurosis 5)
LCAT (Fish-eye disease)
LCRB (Thalassemia, Hispanic gamma-delta-beta)
LCT (Lactase deficiency, congenital)
LDB3 (Cardiomyopathy, dilated 1C)
LDHA (Glycogen storage disease XI)
LDLR (Hypercholesterolemia, familial)
LDLRAP1 (Hypercholesterolemia, familial, autosomal recessive)
LEMD3 (Buschke-Ollendorff syndrome)
LEPRE1 (Osteogenesis imperfecta, type VIII)
LFNG (Spondylocostal dysostosis, autosomal recessive 3)
LGI1 (Epilepsy, partial, with auditory features)
LGR8 (Cryptorchidism, bilateral)
LHCGR (Leydig cell hypoplasia with hypergonadotropic hypogonadism)
LHFPL5 (Deafness, autosomal recessive 67)
LHX3 (Pituitary hormone deficiency, combined, 3)
LHX4 (Pituitary hormone deficiency, combined, 4)
LIFR (Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome)
LIG4 (LIG4 syndrome)
LIPA (Cholesteryl ester storage disease)
LIPH (Hypotrichosis, localized, autosomal recessive 2)
LITAF (Charcot-Marie-Tooth disease type 1C)
LMBR1 (Acheiropody)
LMBRD1 (Methylmalonic aciduria and homocystinuria, cblF type)
LMF1 (Lipase deficiency, combined)
LMNA (Cardiomyopathy, dilated, 1A)
LMNB1 (Leukodystrophy, adult-onset, autosomal dominant)
LMNB2 (Lipodystrophy, partial, acquired)
LMX1B (Nail-patella syndrome)
LOH18CR1 (Osteosarcoma)
LOR (Vohwinkel syndrome with ichthyosis)
LOX (Cutis laxa, recessive, type I)
LOXHD1 (Deafness, autosomal recessive 77)
LPIN1 (Myoglobinuria, acute recurrent, autosomal recessive)
LPIN2 (Majeed syndrome)
LPL (Lipoprotein lipase deficiency)
LRAT (Leber congenital amaurosis 14)
LRP2 (Donnai-Barrow syndrome)
LRP4 (Cenani-Lenz syndactyly syndrome)
LRP5 (Exudative vitreoretinopathy 4)
LRPPRC (Leigh syndrome, French-Canadian type)
LRRC50 (Ciliary dyskinesia, primary, 13)
LRRC8A (Agammaglobulinemia 5)
LRRK2 (Parkinson disease-8)
LRTOMT (Deafness, autosomal recessive 63)
LTBP2 (Glaucoma 3, primary congenital, D)
LTBP3 (Tooth agenesis, selective, 6)
LTBP4 (Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities)
LYZ (Amyloidosis, renal)
LZTS1 (Esophageal squamous cell carcinoma)
MADH4 (Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome)
MADH9 (Pulmonary hypertension, primary)
MAGT1 (Mental retardation, X-linked 95)
MAMLD1 (Hypospadias 2, X-linked)
MAN2B1 (Mannosidosis, alpha-, types I and II)
MANBA (Mannosidosis, beta)
MAOA (Brunner syndrome)
MAP2K1 (Cardiofaciocutaneous syndrome)
MAP2K2 (Cardiofaciocutaneous syndrome)
MAPBPIP (Immunodeficiency due to defect in MAPBP-interacting protein)
MAPK10 (Epileptic encephalopathy, Lennox-Gastaut type)
MAPT (Dementia, frontotemporal, with or without parkinsonism)
MARVELD2 (Deafness, autosomal recessive 49)
MAT1A (Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency)
MATN3 (Epiphyseal dysplasia, multiple, 5)
MATR3 (Myopathy, distal 2)
MBD5 (Mental retardation, autosomal dominant 1)
MBTPS2 (Ichthyosis follicularis, atrichia, and photophobia syndrome)
MC2R (Glucocorticoid deficiency, due to ACTH unresponsiveness)
MC4R (Obesity, autosomal dominant)
MCCC1 (3-Methylcrotonyl-CoA carboxylase 1 deficiency)
MCCC2 (3-Methylcrotonyl-CoA carboxylase 2 deficiency)
MCEE (Methylmalonyl-CoA epimerase deficiency)
MCFD2 (Factor V and factor VIII, combined deficiency of)
MCM6 (Lactase persistance/nonpersistance)
MCOLN1 (Mucolipidosis IV)
MCPH1 (Microcephaly, autosomal recessive 1)
MCPH2 (Microcephaly, primary autosomal recessive, 2)
MCPH4 (Microcephaly, primary autosomal recessive, 4)
MDD1 (Major depressive disorder 1)
MDD2 (Major depressive disorder 2)
MECP2 (Angelman syndrome)
MED12 (Lujan-Fryns syndrome)
MED13L (Transposition of the great arteries, dextro-looped 1)
MED25 (Charcot-Marie-Tooth disease type 2B2)
MEF2C (Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations)
MEFV (Familial Mediterranean fever, AD)
MEN1 (Hyperparathyroidism, AD)
MERTK (Retinitis pigmentosa-38)
MESP2 (Spondylocostal dysostosis, autosomal recessive 2)
MET (Hepatocellular carcinoma, childhood type)
MFN2 (Charcot-Marie-Tooth disease type 2A2)
MFRP (Microphthalmia, isolated 5)
MFSD8 (Ceroid lipofuscinosis, neuronal, 7)
MGAT2 (Congenital disorder of glycosylation, type IIA)
MGP (Keutel syndrome)
MHC2TA (Bare lymphocyte syndrome, type II, complementation group A)
MID1 (Opitz G syndrome, type I)
MIP (Cataract, polymorphic and lamellar)
MIPOL1 (Mirror-image polydactyly)
MIR96 (Deafness, autosomal dominant 50)
MITF (Tietz albinism-deafness syndrome)
MKKS (Bardet-Biedl syndrome 6)
MKS1 (Bardet-Biedl syndrome 13)
MLC1 (Megalencephalic leukoencephalopathy with subcortical cysts)
MLH1 (Colorectal cancer, hereditary nonpolyposis, type 2)
MLH3 (Endometrial cancer)
MLPH (Griscelli syndrome type 3)
MLYCD (Malonyl-CoA decarboxylase deficiency)
MMAA (Methylmalonic aciduria, vitamin B12-responsive)
MMAB (Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type)
MMACHC (Methylmalonic aciduria and homocystinuria, cblC type)
MMP1 (COPD, rate of decline of lung function in)
MMP13 (Metaphyseal anadysplasia 1)
MMP2 (Torg-Winchester syndrome)
MMP20 (Amelogenesis imperfecta, type IIA2)
MMP9 (Metaphyseal anadysplasia 2)
MN1 (Meningioma)
MNX1 (Currarino syndrome)
MOCS1 (Molybdenum cofactor deficiency, type A)
MOCS2 (Molybdenum cofactor deficiency, type B)
MPDU1 (Congenital disorder of glycosylation, type If)
MPI (Carbohydrate-deficient glycoprotein syndrome, type Ib)
MPL (Thrombocythemia, essential)
MPO (Myeloperoxidase deficiency)
MPV17 (Mitochondrial DNA depletion syndrome, hepatocerebral form)
MPZ (Charcot-Marie-Tooth disease type 1B)
MR1 (Paroxysmal nonkinesigenic dyskinesia)
MRAP (Glucocorticoid deficiency 2)
MRE11A (Ataxia-telangiectasia-like disorder)
MRPS16 (Combined oxidative phosphorylation deficiency 2)
MRPS22 (Combined oxidative phosphorylation deficiency 5)
MS4A1 (Immunodeficiency, common variable, 5)
MSH2 (Colorectal cancer, hereditary nonpolyposis, type 1)
MSH6 (Endometrial cancer, familial)
MSR1 (Prostate cancer, hereditary)
MSX1 (Orofacial cleft 5)
MSX2 (Craniosynostosis, type 2)
MTHFR (Homocystinuria due to MTHFR deficiency)
MTM1 (Myotubular myopathy, X-linked)
MTMR2 (Charcot-Marie-Tooth disease type 4B1)
MTP (Abetalipoproteinemia)
MTR (Methylcobalamin deficiency, cblG type)
MTRR (Homocystinuria-megaloblastic anemia, cbl E type)
MUSK (Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency)
MUTYH (Adenomas, multiple colorectal)
MVK (Hyper-IgD syndrome)
MYBPC3 (Cardiomyopathy, dilated)
MYC (Burkitt lymphoma)
MYCN (Feingold syndrome)
MYD88 (Pyogenic bacterial infections, recurrent, due to MYD88 deficiency)
MYF6 (Myopathy, centronuclear)
MYH11 (Aortic aneurysm, familial thoracic 4)
MYH14 (Deafness, autosomal dominant 4)
MYH2 (Inclusion body myopathy-3)
MYH3 (Arthrogryposis, distal, type 2A)
MYH6 (Cardiomyopathy, dilated, 1EE)
MYH7 (Cardiomyopathy, dilated, 1S)
MYH8 (Carney complex variant)
MYH9 (Deafness, autosomal dominant 17)
MYL2 (Cardiomyopathy, familial hypertrophic, 10)
MYL3 (Cardiomyopathy, familial hypertrophic, 8)
MYLK2 (Cardiomyopathy, hypertrophic, midventricular, digenic)
MYO15A (Deafness, autosomal recessive 3)
MYO1A (Deafness, autosomal dominant 48)
MYO3A (Deafness, autosomal recessive 30)
MYO5A (Griscelli syndrome type 1)
MYO5B (Microvillus inclusion disease)
MYO6 (Deafness, autosomal dominant 22)
MYO7A (Deafness, autosomal dominant 11, neurosensory)
MYOC (Glaucoma 1A, primary open angle, juvenile-onset)
NAA10 (Ogden Syndrome)
NAGA (Kanzaki disease)
NAGLU (Sanfilippo syndrome, type B)
NAGS (N-acetylglutamate synthase deficiency)
NALP12 (Familial cold autoinflammatory syndrome 2)
NALP7 (Hydatidiform mole)
NBS1 (Nijmegen breakage syndrome)
NCF1 (Chronic granulomatous disease due to deficiency of NCF-1)
NCF2 (Chronic granulomatous disease due to deficiency of NCF-2)
NDP (Exudative vitreoretinopathy, X-linked)
NDRG1 (Charcot-Marie-Tooth disease type 4D)
NDUFA1 (Mitochondrial complex I deficiency)
NDUFA11 (Mitochondrial complex I deficiency)
NDUFA2 (Leigh syndrome due to mitochondrial complex I deficiency)
NDUFAF2 (Mitochondrial complex I deficiency)
NDUFAF3 (Mitochondrial complex I deficiency)
NDUFAF4 (Mitochondrial complex I deficiency)
NDUFS1 (Mitochondrial complex I deficiency)
NDUFS2 (Mitochondrial complex I deficiency)
NDUFS3 (Leigh syndrome)
NDUFS4 (Leigh syndrome)
NDUFS6 (Complex I, mitochondrial respiratory chain, deficiency of)
NDUFS7 (Leigh syndrome)
NDUFS8 (Leigh syndrome)
NDUFV1 (Alexander disease)
NDUFV2 (Mitochondrial complex I deficiency)
NEB (Nemaline myopathy 2, autosomal recessive)
NEFL (Charcot-Marie-Tooth disease type 1F)
NELF (Hypogonadotropic hypogonadism)
NEU1 (Sialidosis, type I)
NEUROD1 (Maturity-onset diabetes of the young 6)
NEUROG3 (Diarrhea 4, malabsorptive, congenital)
NEXN (Cardiomyopathy, dilated, 1CC)
NF1 (Neurofibromatosis type 1)
NF2 (Neurofibromatosis type 2)
NFKBIA (Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency)
NGFB (Neuropathy, hereditary sensory and autonomic, type V)
NHEJ1 (Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation)
NHLRC1 (Epilepsy, myoclonic, Lafora type)
NHS (Cataract, congenital, X-linked)
NIPA1 (Spastic paraplegia-6)
NIPBL (Cornelia de Lange syndrome 1)
NKX2-1 (Chorea, hereditary benign)
NKX2-6 (Persistent truncus arteriosus)
NKX2E (Atrial septal defect with atrioventricular conduction defects)
NKX3-2 (Spondylo-megaepiphyseal-metaphyseal dysplasia)
NLGN4 (Mental retardation, X-linked)
NLRP3 (CINCA syndrome)
NME1 (Neuroblastoma)
NOBOX (Premature ovarian failure 5)
NOD2 (Blau syndrome)
NODAL (Heterotaxy, visceral, 5)
NOG (Brachydactyly type B2)
NOLA2 (Dyskeratosis congenita)
NOLA3 (Dyskeratosis congenita, autosomal recessive)
NOS3 (Alzheimer disease, late-onset, susceptibility to)
NOTCH1 (Aortic valve disease)
NOTCH2 (Alagille syndrome 2)
NOTCH3 (Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy)
NPC1 (Niemann-Pick disease type D)
NPC2 (Niemann-pick disease, type C2)
NPHP1 (Joubert syndrome 4)
NPHP3 (Meckel syndrome 7)
NPHP4 (Nephronophthisis 4)
NPHS1 (Nephrotic syndrome, type 1)
NPPA (Atrial fibrillation, familial, 6)
NPR2 (Acromesomelic dysplasia, Maroteaux type)
NR0B2 (Obesity, mild, early-onset)
NR2E3 (Enhanced S-cone syndrome)
NR3C2 (Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy)
NR5A1 (Premature ovarian failure 7)
NRAMP2 (Anemia, hypochromic microcytic)
NRAS (Colorectal cancer)
NSD1 (Beckwith-Wiedemann syndrome)
NSDHL (CHILD syndrome)
NT5C3 (Anemia, hemolytic, due to UMPH1 deficiency)
NTF4 (Glaucoma 1, open angle, 1O)
NTRK1 (Insensitivity to pain, congenital, with anhidrosis)
NUP62 (Striatonigral degeneration, infantile)
OAT (Gyrate atrophy of choroid and retina with or without ornithinemia)
OBSL1 (Three M syndrome 2)
OCA2 (Albinism, brown oculocutaneous)
OCRL (Dent disease 2)
OFD1 (Joubert syndrome 10)
OGDH (Alpha-ketoglutarate dehydrogenase deficiency)
OPA1 (Optic atrophy 1)
OPA3 (3-Methylglutaconic aciduria type III)
OPHN1 (Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance)
OPN1LW (Blue-cone monochromacy)
OPN1MW (Blue cone monochromacy)
OPN1SW (Colorblindness, tritan)
OPTN (Amytrophic lateral sclerosis 12)
ORAI1 (Immune dysfunction with T-cell inactivation due to calcium entry defect 1)
OSMR (Amyloidosis, primary localized cutaneous)
OSTM1 (Osteopetrosis, autosomal recessive 5)
OTC (Ornithine transcarbamylase deficiency)
OTOA (Deafness, autosomal recessive 22)
OTOF (Auditory neuropathy, autosomal recessive, 1)
OTX2 (Microphthalmia, syndromic 5)
OXCT1 (Succinyl-CoA:3-oxoacid CoA transferase deficiency)
P2RY12 (Bleeding disorder due to P2RY12 defect)
P2RY5 (Hypotrichosis, localized, autosomal recessive, 3)
PABPN1 (Oculopharyngeal muscular dystrophy)
PAFAH1B1 (Lissencephaly-1)
PAH (Phenylketonuria)
PAI1 (Plasminogen activator inhibitor, type I)
PAK3 (Mental retardation, X-linked 30)
PALB2 (Fanconi anemia, complementation group N)
PANK2 (HARP syndrome)
PAPSS2 (SEMD, Pakistani type)
PAX2 (Optic nerve coloboma with renal disease)
PAX3 (Craniofacial-deafness-hand syndrome)
PAX4 (Diabetes mellitus, ketosis-prone)
PAX6 (Aniridia)
PAX7 (Rhabdomyosarcoma 2, alveolar)
PAX8 (Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia)
PAX9 (Tooth agenesis, selective, 3)
PC (Pyruvate carboxylase deficiency)
PCBD (Hyperphenylalaninemia, BH4-deficient, D)
PCCA (Propionicacidemia)
PCCB (Propionicacidemia)
PCDH15 (Deafness, autosomal recessive 23)
PCDH19 (Epilepsy, female-restricted, with mental retardation)
PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
PCSK1 (Obesity with impaired prohormone processing)
PCSK9 (Hypercholesterolemia, familial, 3)
PDB4 (Paget disease of bone)
PDCD10 (Cerebral cavernous malformations 3)
PDCN (Nephrotic syndrome, type 2)
PDE11A (Pigmented nodular adrenocortical disease, primary, 2)
PDE6B (Night blindness, congenital stationary, autosomal dominant 2)
PDE6C (Cone dystrophy 4)
PDE6H (Retinal cone dystrophy 3)
PDE8B (Striatal degeneration, autosomal dominant)
PDGFRA (Hypereosinophilic syndrome, idiopathic, resistant to imatinib)
PDGFRB (Myeloproliferative disorder with eosinophilia)
PDGFRL (Hepatocellular cancer)
PDHA1 (Leigh syndrome, X-linked)
PDP1 (Pyruvate dehydrogenase phosphatase deficiency)
PDSS1 (Coenzyme Q10 deficiency)
PDSS2 (Coenzyme Q10 deficiency)
PDX1 (Lacticacidemia due to PDX1 deficiency)
PEPD (Prolidase deficiency)
PER2 (Advanced sleep phase syndrome, familial)
PEX1 (Adrenoleukodystrophy, neonatal)
PEX10 (Adrenoleukodystrophy, neonatal)
PEX13 (Adrenoleukodystrophy, neonatal)
PEX14 (Zellweger syndrome)
PEX26 (Adrenoleukodystrophy, neonatal)
PEX3 (Zellweger syndrome, complementation group G)
PEX5 (Adrenoleukodystrophy, neonatal)
PEX7 (Refsum disease)
PFC (Properdin deficiency, X-linked)
PFKM (Glycogen storage disease VII)
PGAM2 (Glycogen storage disease X)
PGK1 (Phosphoglycerate kinase 1 deficiency)
PGM1 (Glycogen storage disease XIV)
PGN (Spastic paraplegia-7)
PGR (Progesterone resistance)
PHEX (Hypophosphatemia, X-linked)
PHF6 (Borjeson-Forssman-Lehmann syndrome)
PHF8 (Mental retardation syndrome, X-linked, Siderius type)
PHGDH (Phosphoglycerate dehydrogenase deficiency)
PHKA1 (Muscle glycogenosis)
PHKA2 (Glycogen storage disease, type IXa1)
PHKB (Phosphorylase kinase deficiency of liver and muscle, autosomal recessive)
PHKG2 (Glycogen storage disease IXc)
PHOX2A (Fibrosis of extraocular muscles, congenital, 2)
PHYH (Refsum disease)
PIGM (Glycosylphosphatidylinositol deficiency)
PIK3CA (Nevus, epidermal)
PIKFYVE (Corneal fleck dystrophy)
PINK1 (Parkinson disease 6, early onset)
PIP5K1C (Lethal congenital contractural syndrome 3)
PITPNM3 (Cone-rod dystrophy 5)
PITX1 (Clubfoot, congenital)
PITX2 (Axenfeld-Rieger syndrome, type 1)
PITX3 (Anterior segment mesenchymal dysgenesis)
PJVK (Deafness, autosomal recessive 59)
PKD1 (Polycystic kidney disease, adult type I)
PKD2 (Polycystic kidney disease 2)
PKLR (Adenosine triphosphate, elevated, of erythrocytes)
PKP1 (Ectodermal dysplasia/skin fragility syndrome)
PKP2 (Arrhythmogenic right ventricular dysplasia, familial, 9)
PLA2G6 (Dystonia-parkinsonism, adult-onset)
PLAG1 (Adenomas, salivary gland pleomorphic)
PLAT (Hyperfibrinolysis, familial, due to increased release of PLAT)
PLCE1 (Nephrotic syndrome, type 3)
PLEC1 (Epidermolysis bullosa simplex with pyloric atresia)
PLEKHG5 (Spinal muscular atrophy, distal, autosomal recessive, 4)
PLEKHM1 (Osteopetrosis, autosomal recessive 6)
PLXND1 (MOEBIUS SYNDROME; MBS)
PLG (Conjunctivitis, ligneous)
PLI (Alpha-2-plasmin inhibitor deficiency)
PLN (Cardiomyopathy, dilated, 1P)
PLOD (Ehlers-Danlos syndrome, type VI)
PLOD2 (Bruck syndrome 2)
PLOD3 (Lysyl hydroxylase 3 deficiency)
PLP1 (Pelizaeus-Merzbacher disease)
PMM2 (Congenital disorder of glycosylation, type Ia)
PMP22 (Charcot-Marie-Tooth disease type 1A)
PMS2 (Mismatch repair cancer syndrome)
PMX2B (Central hypoventilation syndrome, congenital)
PNKP (Microcephaly, seizures, and developmental delaty)
PNMT (Hypertension, essential)
PNP (Immunodeficiency due to purine nucleoside phosphorylase deficiency)
PNPLA2 (Neutral lipid storage disease with myopathy)
PNPLA6 (Spastic paraplegia 39)
PNPO (Pyridoxamine 5′-phosphate oxidase deficiency)
POLA (N syndrome)
POLG (Alpers syndrome)
POLG2 (Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4)
POLH (Xeroderma pigmentosum, variant type)
POMC (Obesity, adrenal insufficiency, and red hair due to POMC deficiency)
POMP (Keratosis linearis with ichthyosis congenita and sclerosing keratoderma)
POR (Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency)
PORCN (Focal dermal hypoplasia)
POU1F1 (Pituitary hormone deficiency, combined, 1)
POU3F4 (Deafness, X-linked 2)
POU4F3 (Deafness, autosomal dominant 15)
PPARG (Carotid intimal medial thickness 1)
PPIB (Osteogenesis imperfecta, type IX)
PPOX (Porphyria variegata)
PPP1R3A (Insulin resistance, severe, digenic)
PPT1 (Ceroid lipofuscinosis, neuronal 1, infantile)
PQBP1 (Renpenning syndrome)
PRCC (Renal cell carcinoma, papillary, 1)
PRCD (Retinitis pigmentosa-36)
PRF1 (Hemophagocytic lymphohistiocytosis, familial, 2)
PRG4 (Camptodactyly-arthropathy-coxa vara-pericarditis syndrome)
PRICKLE1 (Epilepsy, progressive myoclonic 1B)
PRKAG2 (Cardiomyopathy, hypertrophic 6, with WPW)
PRKAR1A (Carney complex, type 1)
PRKCSH (Polycystic liver disease)
PRKN (Parkinson disease, juvenile, type 2)
PRKRA (Dystonia 16)
PRNP (Creutzfeldt-Jakob disease)
PROC (Thrombophilia due to protein C deficiency, autosomal dominant)
PRODH (Hyperprolinemia, type I)
PROK2 (Hypogonadism, hypogonadotropic)
PROKR2 (Kallmann syndrome 3)
PROM1 (Cone-rod dystrophy 12)
PROP1 (Pituitary hormone deficiency, combined, 2)
PROS1 (Thrombophilia due to protein S deficiency)
PRPF31 (Retinitis pigmentosa-11)
PRPF8 (Retinitis pigmentosa-13)
PRPH2 (Choriodal dystrophy, central areolar 2,)
PRPS1 (Arts syndrome)
PRSS1 (Pancreatitis, hereditary)
PRSS12 (Mental retardation, autosomal recessive 1)
PRSS7 (Enterokinase deficiency)
PRX (Charcot-Marie-Tooth disease type 4F)
PSAP (Combined SAP deficiency)
PSAT1 (Phosphoserine aminotransferase deficiency)
PSEN1 (Alzheimer disease, type 3)
PSEN2 (Alzheimer disease-4)
PSTPIP1 (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne)
PTCH1 (Holoprosencephaly-7)
PTCH2 (Medulloblastoma)
PTEN (Bannayan-Riley-Ruvalcaba syndrome)
PTF1A (Diabetes mellitus, permanent neonatal, with cerebellar agenesis)
PTGIS (Hypertension, essential)
PTH (Hypoparathyroidism, autosomal dominant)
PTHB1 (Bardet-Biedl syndrome 9)
PTHLH (Brachydactyly type E2)
PTHR1 (Chondrodysplasia, Blomstrand type)
PTPN11 (Leopard syndrome)
PTPRC (Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive)
PTPRQ (Deafness, autosomal recessive 84)
PTRF (Lipodystrophy, congenital generalized, type 4)
PTS (Hyperphenylalaninemia, BH4-deficient, A)
PUS1 (Mitochondrial myopathy and sideroblastic anemia)
PVRL4 (Ectodermal dysplasia-syndactyly syndrome 1)
PXF (Zellweger syndrome)
PXMP3 (Refsum disease, infantile form)
PYCR1 (Cutis laxa, autosomal recessive, type IIB)
PYCS (Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities)
PYGM (McArdle disease)
QDPR (Hyperphenylalaninemia, BH4-deficient, C)
RAB23 (Carpenter syndrome)
RAB27A (Griscelli syndrome type 2)
RAB39B (Mental retardation, X-linked-72)
RAB3GAP1 (Warburg micro syndrome 1)
RAB3GAP2 (Martsolf syndrome)
RAB7 (Charcot-Marie-Tooth disease type 2B)
RAC2 (Neutrophil immunodeficiency syndrome)
RAD50 (Nijmegen breakage syndrome-like disorder)
RAD51C (Fanconi anemia, complementation group 0)
RAF1 (LEOPARD syndrome 2)
RAG1 (Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity)
RAG2 (Omenn syndrome)
RAI1 (Smith-Magenis syndrome)
RAPSN (Fetal akinesia deformation sequence)
RARS2 (Pontocerebellar hypoplasia, type 6)
RASA1 (Capillary malformation-arteriovenous malformation)
RAX (Microphthalmia, isolated 3)
RAXL1 (Cone-rod dystrophy 11)
RB1 (Bladder cancer)
RBM10 (TARP syndrome)
RBM20 (Cardiomyopathy, dilated, 1DD)
RBM28 (Alopecia, neurologic defects, and endocrinopathy syndrome)
RD3 (Leber congenital amaurosis 12)
RDH12 (Leber congenital amaurosis 13)
RDH5 (Fundus albipunctatus)
RDX (Deafness, autosomal recessive, 24)
RECQL2 (Werner syndrome)
RECQL3 (Bloom syndrome)
RECQL4 (Baller-Gerold syndrome)
REEP1 (Spastic paraplegia 31)
RELN (Lissencephaly syndrome, Norman-Roberts type)
REN (Hyperuricemic nephropathy, familial juvenile 2)
RET (Central hypoventilation syndrome, congenital)
REV3L (MOEBIUS SYNDROME; MBS)
RFT1 (Congenital disorder of glycosylation, type In)
RFX5 (Bare lymphocyte syndrome, type II, complementation group C)
RFXANK (MHC class II deficiency, complementation group B)
RFXAP (Bare lymphocyte syndrome, type II, complementation group D)
RGS9 (Bradyopsia)
RGS9BP (Bradyopsia)
RHAG (Anemia, hemolytic, Rh-null, regulator type)
RHO (Night blindness, congenital stationery, autosomal dominant 1)
RIMS1 (Cone-rod dystrophy 7)
RIN2 (Macrocephaly, alopecia, cutis laxa, and scoliosis)
RLBP1 (Bothnia retinal dystrophy)
RMD1 (Rippling muscle disease-1)
RMRP (Anauxetic dysplasia)
RNASEH2A (Aicardi-Goutieres syndrome 4)
RNASEH2B (Aicardi-Goutieres syndrome 2)
RNASEH2C (Aicardi-Goutieres syndrome 3)
RNASEL (Prostate cancer 1, 176807)
RNASET2 (Leukoencephalopathy, cystic, without megalencephaly)
RNF139 (Renal cell carcinoma)
RNF168 (RIDDLE syndrome)
RNF212 (Recombination rate QTL 1)
ROBO2 (Vesicoureteral reflux 2)
ROBO3 (Gaze palsy, horizontal, with progressive scoliosis)
ROR2 (Brachydactyly type B1)
RP1 (Retinitis pigmentosa-1)
RP2 (Retinitis pigmentosa-2)
RP9 (Retinitis pigmentosa-9)
RPE65 (Leber congenital amaurosis 2)
RPGR (Cone-rod dystrophy-1)
RPGRIP1 (Cone-rod dystrophy 13)
RPGRIP1L (COACH syndrome)
RPIA (Ribose-5-phosphate isomerase deficiency)
RPL11 (Diamond-Blackfan anemia 7)
RPL35A (Diamond-Blackfan anemia 5)
RPL5 (Diamond-Blackfan anemia 6)
RPS10 (Diamond-Blackfan anemia 9)
RPS17 (Diamond-Blackfan anemia 4)
RPS19 (Diamond-Blackfan anemia 1)
RPS24 (Diamond-blackfan anemia)
RPS26 (Diamond-Blackfan anemia 10)
RPS6KA3 (Coffin-Lowry syndrome)
RPS7 (Diamond-Blackfan anemia 8)
RRM2B (Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy)
RSPH4A (Ciliary dyskinesia, primary, 11)
RSPH9 (Ciliary dyskinesia, primary, 12)
RSPO1 (Palmoplantar hyperkeratosis and true hermaphroditism)
RSPO4 (Anonychia congenita)
RUNX1 (Platelet disorder, familial, with associated myeloid malignancy)
RUNX2 (Cleidocranial dysplasia)
RYR1 (Central core disease)
RYR2 (Arrhythmogenic right ventricular dysplasia 2)
SACS (Spastic ataxia, Charlevoix-Saguenay type)
SAG (Oguchi disease-1)
SALL1 (Townes-Brocks branchiootorenal-like syndrome)
SALL4 (Duane-radial ray syndrome)
SAMD9 (Tumoral calcinosis, familial, normophosphatemic)
SAMHD1 (Aicardi-Goutieres syndrome 5)
SANS (Usher syndrome, type 1G)
SAR1B (Chylomicron retention disease)
SART3 (Porokeratosis, disseminated superficial actinic, 1)
SAT1 (Keratosis follicularis spinulosa decalvans)
SATB2 (Cleft palate and mental retardation)
SBDS (Shwachman-Bodian-Diamond syndrome)
SBF2 (Charcot-Marie-Tooth disease type 4B2)
SC5DL (Lathosterolosis)
SCARB2 (Action myoclonus-renal failure syndrome)
SCN1A (Dravet syndrome)
SCN1B (Brugada syndrome 5)
SCN2A1 (Convulsions, benign familial infantile, 3)
SCN3B (Brugada syndrome 7)
SCN4A (Hyperkalemic periodic paralysis, type 2)
SCN4B (Long QT syndrome-10)
SCN5A (Brugada syndrome 1)
SCN9A (Erythermalgia, primary)
SCNN1A (Bronchiectasis with or without elevated sweat chloride 2)
SCNN1B (Bronchiectasis with or without elevated sweat chloride 1)
SCNN1G (Bronchiectasis with or without elevated sweat chloride 3)
SCO2 (Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency)
SCYL1BP1 (Geroderma osteodysplasticum)
SDHA (Cardiomyopathy, dilated, 1GG)
SDHAF1 (Mitochondrial complex II deficiency)
SDHAF2 (Paragangliomas 2)
SDHB (Cowden-like syndrome)
SDHC (Paraganglioma and gastric stromal sarcoma)
SDHD (Carcinoid tumors, intestinal)
SEC23A (Cranio-lenticulo-sutural dysplasia)
SEC23B (Anemia, dyserythropoietic congenital, type II)
SEC63 (Polycystic liver disease)
SECISBP2 (Thyroid hormone metabolism, abnormal)
SEMA3E (CHARGE syndrome)
SEMA4A (Cone-rod dystrophy 10)
SEPN1 (Muscular dystrophy, rigid spine, 1)
SERPINA1 (Emphysema due to AAT deficiency)
SERPINB6 (Deafness, autosomal recessive 91)
SERPINI1 (Encephalopathy, familial, with neuroserpin inclusion bodies)
SETBP1 (Schinzel-Giedion midface retraction syndrome)
SETX (Amyotrophic lateral sclerosis 4, juvenile)
SFTPA2 (Pulmonary fibrosis, idiopathic)
SFTPB (Surfactant metabolism dysfunction, pulmonary, 1)
SFTPC (Surfactant metabolism dysfunction, pulmonary, 2)
SGCA (Muscular dystrophy, limb-girdle, type 2D)
SGCB (Muscular dystrophy, limb-girdle, type 2E)
SGCD (Cardiomyopathy, dilated, 1L)
SGCE (Dystonia-11, myoclonic)
SGCG (Muscular dystrophy, limb-girdle, type 2C)
SGSH (Sanfilippo syndrome, type A)
SH2D1A (Lymphoproliferative syndrome, X-linked)
SH3BP2 (Cherubism)
SH3PXD2B (Frank-ter Haar syndrome)
SH3TC2 (Charcot-Marie-Tooth disease type 4C)
SHH (Coloboma, ocular)
SHOC2 (Noonan-like syndrome with loose anagen hair)
SHOX (Langer mesomelic dysplasia)
SHOXY (Langer mesomelic dysplasia)
SHROOM4 (Stocco dos Santos X-linked mental retardation syndrome)
SI (Sucrase-isomaltase deficiency, congenital)
SIAT9 (Amish infantile epilepsy syndrome)
SIL1 (Marinesco-Sjogren syndrome)
SIM1 (Obesity, severe)
SIX1 (Brachiootic syndrome 3)
SIX3 (Holoprosencephaly-2)
SIX5 (Branchiootorenal syndrome 2)
SIX6 (Microphthalmia, isolated, with cataract 2)
SLC10A2 (Bile acid malabsorption, primary)
SLC12A1 (Bartter syndrome, type 1)
SLC12A3 (Gitelman syndrome)
SLC12A6 (Agenesis of the corpus callosum with peripheral neuropathy)
SLC16A1 (Erythrocyte lactate transporter defect)
SLC16A12 (Cataract, juvenile, with microcornea and glucosuria)
SLC16A2 (Allan-Herndon-Dudley syndrome)
SLC17A3 (Glycogen storage disease Ic)
SLC17A5 (Salla disease)
SLC17A8 (Deafness, autosomal dominant 25)
SLC19A2 (Thiamine-responsive megaloblastic anemia syndrome)
SLC1A1 (Dicarboxylic aminoaciduria)
SLC1A3 (Episodic ataxia, type 6)
SLC22A12 (Hypouricemia, renal)
SLC22A1L (Rhabdomyosarcoma)
SLC22A5 (Carnitine deficiency, systemic primary)
SLC25A12 (Hypomyelination, global cerebral)
SLC25A13 (Citrullinemia, adult-onset type II)
SLC25A15 (Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome)
SLC25A19 (Microcephaly, Amish type)
SLC25A22 (Epilepsy, neonatal myoclonic, with suppression-burst pattern)
SLC25A3 (Micochondrial phosphate carrier deficiency)
SLC25A38 (Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive)
SLC25A4 (Cardiomyopathy, familial hypertrophic)
SLC26A2 (Achondrogenesis Ib)
SLC26A3 (Chloride diarrhea, congenital, Finnish type)
SLC26A4 (Enlarged vestibular aqueduct)
SLC27A4 (Ichthyosis prematurity syndrome)
SLC29A3 (Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism)
SLC2A1 (GLUT1 deficiency syndrome 1)
SLC2A10 (Arterial tortuosity syndrome)
SLC2A2 (Fanconi-Bickel syndrome)
SLC2A9 (Hypouricemia, renal, 2)
SLC33A1 (Spastic paraplegia-42)
SLC34A1 (Fanconi renotubular syndrome 2)
SLC34A2 (Pulmonary alveolar microlithiasis)
SLC34A3 (Hypophosphatemic rickets with hypercalciuria)
SLC35A1 (Congenital disorder of glycosylation, type IIf)
SLC35C1 (Congenital disorder of glycosylation type IIc)
SLC35D1 (Schneckenbecken dysplasia)
SLC36A2 (Hyperglycinuria)
SLC37A4 (Glycogen storage disease Ib)
SLC39A13 (Spondylocheirodysplasia, Ehlers-Danlos syndrome-like)
SLC39A4 (Acrodermatitis enteropathica)
SLC3A1 (Cystinuria)
SLC40A1 (Hemochromatosis, type 4)
SLC45A2 (Oculocutaneous albinism, type IV)
SLC46A1 (Folate malabsorption, hereditary)
SLC4A1 (Renal tubular acidosis, distal, AD)
SLC4A11 (Corneal dystrophy, Fuchs endothelial, 4)
SLC4A4 (Renal tubular acidosis, proximal, with ocular abnormalities)
SLC5A1 (Glucose-galactose malabsorption)
SLC5A2 (Renal glucosuria)
SLC5A5 (Thyroid dyshormonogenesis 1)
SLC6A19 (Hartnup disorder)
SLC6A2 (Orthostatic intolerance)
SLC6A20 (Hyperglycinuria)
SLC6A3 (Parkinsonism-dystonia, infantile)
SLC6A5 (Hyperekplexia)
SLC6A8 (Creatine deficiency syndrome, X-linked)
SLC7A7 (Lysinuric protein intolerance)
SLC7A9 (Cystinuria)
SLC9A3R1 (Nephrolithiasis/osteoporosis, hypophosphatemic, 2)
SLC9A6 (Mental retardation, X-linked syndromic, Christianson type)
SLITRK1 (Tourette syndrome)
SLURP1 (Meleda disease)
SMARCA4 (Rhabdoid tumor predisposition syndrome 2)
SMARCAL1 (Schimke immunoosseous dysplasia)
SMARCB1 (Rhabdoid predisposition syndrome 1)
SMN1 (Spinal muscular atrophy-1)
SMPD1 (Niemann-Pick disease, type A)
SMS (Mental retardation, X-linked, Snyder-Robinson type)
SNAI2 (Piebaldism)
SNAP29 (Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome)
SNCA (Dementia, Lewy body)
SNCB (Dementia, Lewy body)
SNRNP200 (Retinitis pigmentosa 33)
SNT1 (Long QT syndrome 12)
SOD1 (Amyotrophic lateral sclerosis, due to SOD1 deficiency)
SOS1 (Fibromatosis, gingival)
SOST (Sclerosteosis)
SOX10 (PCWH syndrome)
SOX18 (Hypotrichosis-lymphedema-telangiectasia syndrome)
SOX2 (Microphthalmia, syndromic 3)
SOX3 (Mental retardation, X-linked, with isolated growth hormone deficiency)
SOX9 (Acampomelic campomelic dysplasia)
SP110 (Hepatic venoocclusive disease with immunodeficiency)
SPAST (Spastic paraplegia-4)
SPATA16 (Globozoospermia)
SPATA7 (Leber congenital amaurosis 3)
SPG11 (Spastic paraplegia-11)
SPG20 (Troyer syndrome)
SPG3A (Spastic paraplegia-3A)
SPINK1 (Pancreatitis, hereditary)
SPINK5 (Atopy)
SPINT2 (Diarrhea 3, secretory sodium, congenital, syndromic)
SPR (Dystonia, dopa-responsive, due to sepiapterin reductase deficiency)
SPRED1 (Legius syndrome)
SPTA1 (Elliptocytosis-2)
SPTAN1 (Epileptic encephalopathy, early infantile, 5)
SPTLC1 (Neuropathy, hereditary sensory and autonomic, type 1)
SPTLC2 (Neuropathy, hereditary sensory/autonomic, type IC)
SQSTM1 (Paget disease of bone)
SRD5A2 (Pseudovaginal perineoscrotal hypospadias)
SRD5A3 (Congenital disorder of glycosylation, type Ip)
SRPX2 (Rolandic epilepsy, mental retardation, and speech dyspraxia)
SSTR5 (Somatostatin analog, resistance to)
ST14 (Ichthyosis with hypotrichosis)
STAR (Lipoid adrenal hyperplasia)
STAT1 (Mycobacterial infection, atypical, familial disseminated)
STAT3 (Hyper-IgE recurrent infection syndrome)
STAT5B (Growth hormone insensitivity with immunodeficiency)
STIL (Microcephaly, primary autosomal recessive, 7)
STIM1 (Immune dysfunction, with T-cell inactivation due to calcium entry defect 2)
STK11 (Peutz-Jeghers syndrome)
STK13 (Male infertility with large-headed, multiflagellar, polyploid spermatozoa)
STRA6 (Microphthalmia, syndromic 9)
STRADA (Polyhydramnios, megalencephaly, and symptomatic epilepsy)
STRC (Deafness, autosomal recessive 16)
STS (Ichthyosis, x-linked)
STX11 (Hemophagocytic lymphohistiocytosis, familial, 4)
STX16 (Pseudohypoparathyroidism, type IB)
STXBP1 (Epileptic encephalopathy, early infantile, 4)
SUCLA2 (Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria)
SUCLG1 (Lactic acidosis, fatal infantile)
SUFU (Medulloblastoma, desmoplastic)
SUMF1 (Multiple sulfatase deficiency)
SUOX (Sulfite oxidase deficiency)
SURF1 (Leigh syndrome, due to COX deficiency)
SYCP3 (Azoospermia due to perturbations of meiosis)
SYN1 (Epilepsy, X-linked, with variable learning disabilities and behavior disorders)
SYNE1 (Emery-Dreifuss muscular dystrophy 4)
SYNE2 (Emery-Dreifuss muscular dystrophy 5)
SYNGAP (Mental retardation, autosomal dominant 5)
SYP (Mental retardation, X-linked, with or without epilepsy)
TAB2 (Congenital heart disease, nonsyndromic, 2)
TAC3 (Hypogonadotropic hypogonadism)
TACR3 (Hypogonadotropic hypogonadism)
TACSTD2 (Corneal dystrophy, gelatinous drop-like)
TAF1 (Dystonia-Parkinsonism, X-linked)
TAF15 (Chondrosarcoma, extraskeletal myxoid)
TALDO1 (Transaldolase deficiency)
TAP1 (Bare lymphocyte syndrome, type I)
TAP2 (Bare lymphocyte syndrome, type I, due to TAP2 deficiency)
TAPBP (Bare lymphocyte syndrome, type I)
TARDBP (Amyotrophic lateral sclerosis 10, with or without FTD)
TAT (Tyrosinemia type II)
TAZ (Barth syndrome)
TBCE (Hypoparathyroidism-retardation-dysmorphism syndrome)
TBS19 (Adrenocorticotropic hormone deficiency)
TBX1 (Conotruncal anomaly face syndrome)
TBX15 (Cousin syndrome)
TBX20 (Atrial septal defect 4)
TBX21 (Asthma and nasal polyps)
TBX22 (Cleft palate with ankyloglossia)
TBX3 (Ulnar-mammary syndrome)
TBX4 (Small patella syndrome)
TBX5 (Holt-Oram syndrome)
TBXAS1 (Ghosal syndrome)
TCAP (Cardiomyopathy, dilated, 1N)
TCF4 (Pitt-Hopkins syndrome)
TCIRG1 (Osteopetrosis, recessive 1)
TCN2 (Transcobalamin II deficiency)
TCOF1 (Treacher Collins mandibulofacial dysostosis)
TEAD1 (Sveinsson choreoretinal atrophy)
TECTA (Deafness, autosomal dominant 8/12)
TEK (Venous malformations, multiple cutaneous and mucosal)
TERC (Aplastic anemia)
TERT (Dyskeratosis congenita)
TF (Atransferrinemia)
TFAP2A (Branchiooculofacial syndrome)
TFAP2B (Char syndrome)
TFE3 (Renal cell carcinoma, papillary, 1)
TFG (Chondrosarcoma, extraskeletal myxoid)
TFR2 (Hemochromatosis, type 3)
TG (Thyroid dyshormonogenesis 3)
TGFB1 (Camurati-Engelmann disease)
TGFB3 (Arrhythmogenic right ventricular dysplasia 1)
TGFBI (Corneal dystrophy, Avellino type)
TGFBR1 (Loeys-Dietz syndrome, type 1A)
TGFBR2 (Loeys-Dietz syndrome, type 1B)
TGIF (Holoprosencephaly-4)
TGM1 (Ichthyosiform erythroderma, congenital)
TGM5 (Peeling skin syndrome, acral type)
TH (Segawa syndrome, recessive)
THAP1 (Dystonia 6, torsion)
THPO (Thrombocythemia, essential)
THRB (Thyroid hormone resistance)
TIMM8A (Jensen syndrome)
TIMP3 (Sorsby fundus dystrophy)
TINF2 (Dyskeratosis congenita, autosomal dominant)
TJP2 (Hypercholanemia, familial)
TK2 (Mitochondrial DNA depletion syndrome, myopathic form)
TLL1 (Atrial septal defect 6)
TM4SF2 (Mental retardation, X-linked 58)
TMC1 (Deafness, autosomal dominant 36)
TMC6 (Epidermodysplasia verruciformis)
TMC8 (Epidermodysplasia verruciformis)
TMEM126A (Optic atrophy-7)
TMEM15 (Congenital disorder of glycosylation, type Im)
TMEM216 (Joubert syndrome 2)
TMEM43 (Arrhythmogenic right ventricular dysplasia, familial, 5)
TMEM67 (COACH syndrome)
TMEM70 (Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency)
TMIE (Deafness, autosomal recessive 6)
TMPRSS3 (Deafness, autosomal recessive 10, congenital)
TMPRSS6 (Iron-refractory iron deficiency anemia)
TNFRSF10B (Squamous cell carcinoma, head and neck)
TNFRSF11A (Osteolysis, familial expansile)
TNFRSF11B (Paget disease, juvenile)
TNFRSF13B (Immunodeficiency, common variable, 2)
TNFRSF13C (Immunodeficiency, common variable, 4)
TNFRSF1A (Periodic fever, familial)
TNFRSF5 (Immunodeficiency with hyper-IgM, type 3)
TNFRSF6 (Autoimmune lymphoproliferative syndrome, type IA)
TNFSF11 (Osteopetrosis, autosomal recessive 2)
TNFSF5 (Immunodeficiency, X-linked, with hyper-IgM)
TNNC1 (Cardiomyopathy, dilated, 1Z)
TNNI2 (Arthrogryposis multiplex congenita, distal type 2B)
TNNI3 (Cardiomyopathy, dilated, 1FF)
TNNT1 (Nemaline Myopathy, Amish Type)
TNNT2 (Cardiomyopathy, dilated, 1D)
TNNT3 (Arthyrgryposis, distal, type 2B)
TNXB (Ehlers-Danlos due to tenascin X deficiency)
TOPORS (Retinitis pigmentosa-31)
TP53 (Adrenal cortical carcinoma)
TP63 (ADULT syndrome)
TPM1 (Cardiomyopathy, dilated, 1Y)
TPM2 (Arthrogryposis multiplex congenita, distal type 1)
TPM3 (Nemaline myopathy 1, autosomal dominant)
TPMT (6-mercaptopurine sensitivity)
TPO (Thyroid dyshormonogenesis 2A)
TPP1 (Ceroid-lipofuscinosis, neuronal 2, classic late infantile)
TPRN (Deafness, autosomal recessive 79)
TRAPPC2 (Spondyloepiphyseal dysplasia tarda)
TRAPPC9 (Mental retardation, autosomal recessive 13)
TREH (Trehalase deficiency)
TREM2 (Nasu-Hakola disease)
TREX1 (Aicardi-Goutieres syndrome 1, dominant and recessive)
TRIM32 (Bardet-Biedl syndrome 11)
TRIM37 (Mulibrey nanism)
TRIOBP (Deafness, autosomal recessive 28)
TRIP11 (Achondrogenesis type 1A)
TRMU (Liver failure, acute infantile)
TRPC6 (Glomerulosclerosis, focal segmental, 2)
TRPM1 (Night blindness, congenital stationary, type IC)
TRPM4 (Progressive familial heart block, type IB)
TRPM6 (Hypomagnesemia with secondary hypocalcemia)
TRPS1 (Trichorhinophalangeal syndrome, type I)
TRPV4 (Brachyolmia type 3)
TSC1 (Focal cortical dysplasia, Taylor balloon cell type)
TSC2 (Tuberous sclerosis-2)
TSEN2 (Pontocerebellar hypoplasia type 2B)
TSEN34 (Pontocerebellar hypoplasia type 2C)
TSEN54 (Pontocerebellar hypoplasia type 2A)
TSFM (Combined oxidative phosphorylation deficiency 3)
TSHB (Hypothryoidism, congenital, nongoitrous 4)
TSHR (Hyperthyroidism, familial gestational)
TSPAN12 (Exudative vitreoretinopathy 5)
TSPYL1 (Sudden infant death with dysgenesis of the testes syndrome)
TTC8 (Bardet-Biedl syndrome 8)
TTID (Muscular dystrophy, limb-girdle, type 1A)
TTN (Cardiomyopathy, dilated, 1G)
TTPA (Ataxia with isolated vitamin E deficiency)
TTR (Amyloidosis, hereditary, transthyretin-related)
TUBA1A (Lissencephaly 3)
TUBA8 (Polymicrogyria with optic nerve hypoplasia)
TUBB1 (Macrothrombocytopenia, autosomal dominant, TUBB1-related)
TUBB2B (Polymicrogyria, asymmetric)
TUBB3 (Fibrosis of extraocular muscles, congenital, 3A)
TUFM (Combined oxidative phosphorylation deficiency 4)
TULP1 (Retinitis pigmentosa-14)
TUSC3 (Mental retardation, autosomal recessive 7)
TWIST1 (Craniosynostosis, type 1)
TXNDC3 (Ciliary dyskinesia, primary, 6)
TYK2 (Tyrosine kinase 2 deficiency)
TYMP (Mitochondrial neurogastrointestinal encephalomyopathy syndrome)
TYR (Albinism, oculocutaneous, type IA)
TYROBP (Nasu-Hakola disease)
TYRP1 (Albinism, brown)
UBE1 (Spinal muscular atrophy, X-linked 2, infantile)
UBE3A (Angelman syndrome)
UBIAD1 (Corneal dystrophy, crystalline, of Schnyder)
UBR1 (Johanson-Blizzard syndrome)
UGT1A1 (Crigler Najjar syndrome type I)
UMOD (Glomerulocystic kidney disease with hyperuricemia and isosthenuria)
UNC13D (Hemophagocytic lymphohistiocytosis, familial, 3)
UNG (Immunodeficiency with hyper IgM, type 4)
UPB1 (Beta-ureidopropionase deficiency)
UPF3B (Mental retardation, X-linked, syndromic 14)
UPK3A (Renal adysplasia)
UQCRB (Mitochondrial complex III deficiency)
UQCRQ (Mitochondrial complex III deficiency)
UROC1 (Urocanase deficiency)
UROD (Porphyria cutanea tarda)
UROS (Porphyria, congenital erythropoietic)
USH1C (Deafness, autosomal recessive 18)
USH2A (Retinitis pigmentosa-39)
USP9Y (Azoospermia)
VANGL1 (Caudal regression syndrome)
VAPB (Amyotrophic lateral sclerosis 8)
VCAN (Wagner syndrome 1)
VCL (Cardiomyopathy, dilated, 1W)
VCP (Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia)
VDR (Osteoporosis, involutional)
VHL (Pheochromocytoma)
VIPAR (Arthrogryposis, renal dysfunction, and cholestasis 2)
VKORC1 (Vitamin K-dependent clotting factors, combined deficiency of, 2)
VLDLR (Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1)
VPS13A (Choreoacanthocytosis)
VPS33B (Arthrogryposis, renal dysfunction, and cholestasis 1)
VRK1 (Pontocerebellar hypoplasia type 1)
VSX1 (Corneal dystrophy, hereditary polymorphous posterior)
VWF (von Willebrand disease, autosomal dominant)
WAS (Neutropenia, severe congenital, X-linked)
WDR36 (Glaucoma 1, open angle, G)
WDR72 (Amelogenesis imperfecta, hypomaturation type, IIA3)
WFS1 (Hearing loss, low-frequency sensorineural)
WHRN (Deafness, autosomal recessive 31)
WISP3 (Arthropathy, progressive pseudorheumatoid, of childhood)
WNK1 (Neuropathy, hereditary sensory and autonomic, type II)
WNK4 (Pseudohypoaldosteronism type II)
WNT10A (Odontoonychodermal dysplasia)
WNT10B (Split-hand/foot malformation 6)
WNT3 (Tetra-amelia, autosomal recessive)
WNT4 (Mullerian aplasia and hyperandrogenism)
WNT7A (Fuhrmann syndrome)
WT1 (Denys-Drash syndrome)
WWOX (Esophageal squamous cell carcinoma)
XDH (Xanthinuria, type I)
XIC (X-inactivation, familial skewed)
XPA (Xeroderma pigmentosum group A)
XPC (Xeroderma pigmentosum group C)
YARS (Charcot-Marie-Tooth disease, dominant intermediate C)
ZBTB16 (Skeletal defects, genital hypoplasia, and mental retardation)
ZDHHC15 (Mental retardation, X-linked-91)
ZDHHC9 (Mental retardation, X-linked, ZDHHC9-related)
ZEB1 (Corneal dystrophy, Fuchs endothelial, 6)
ZEB2 (Mowat-Wilson syndrome)
ZFHX4 (Ptosis, congenital)
ZFP57 (Diabetes mellitus, transient neonatal, 1)
ZFPM2 (Diaphragmatic hernia 3)
ZFYVE26 (Spastic paraplegia 15)
ZFYVE27 (Spastic paraplegia 33)
ZIC1 (Dandy-Walker malformation)
ZIC2 (Holoprosencephaly-5)
ZIC3 (Congenital heart defects, nonsyndromic, 1, X-linked)
ZIC4 (Dandy-Walker malformation)
ZMPSTE24 (Mandibuloacral dysplasia with type B lipodystrophy)
ZNF148 (Sertoli-cell-only syndrome)
ZNF469 (Brittle cornea syndrome)
ZNF513 (Retinitis pigmentosa 58)
ZNF750 (Seborrhea-like dermatitis with psoriasiform elements)
ZNF81 (Mental retardation, X-linked 45)
ZNF9 (Myotonic dystrophy, type 2)
