Allelic heterogeneity

Source: OMIM morbidmap ('12-1-8)

FrequencyGeneRelated Diseases
16COL2A1Stickler syndrome, type I
Kniest dysplasia
Achondrogenesis, type II or hypochondrogenesis
SED congenita
SMED Strudwick type
Epiphyseal dysplasia, multiple, with myopia and deafness
Spondyloperipheral dysplasia
SED, Namaqualand type
Osteoarthritis with mild chondrodysplasia
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Platyspondylic skeletal dysplasia, Torrance type
Otospondylomegaepiphyseal dysplasia
Avascular necrosis of the femoral head
Legg-Calve-Perthes disease
Stickler sydrome, type I, nonsyndromic ocular
Czech dysplasia
13PTEN, MMAC1, GLM2Cowden disease
Lhermitte-Duclos syndrome
Bannayan-Riley-Ruvalcaba syndrome
Glioma susceptibility 2
Macrocephaly/autism syndrome
PTEN hamartoma tumor syndrome
VATER association with macrocephaly and ventriculomegaly
Prostate cancer, somatic
Thyroid carcinoma, follicular, somatic
Malignant melanoma, somatic
Endometrial carcinoma, somatic
Squamous cell carcinoma, head and neck, somatic
13FGFR2, BEK, CFD1, JWSCrouzon syndrome
Jackson-Weiss syndrome
Beare-Stevenson cutis gyrata syndrome
Pfeiffer syndrome
Apert syndrome
Saethre-Chotzen syndrome
Craniosynostosis, nonspecific
Gastric cancer, somatic
Craniofacial-skeletal-dermatologic dysplasia
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Scaphocephaly and Axenfeld-Rieger anomaly
LADD syndrome
Scaphocephaly, maxillary retrusion, and mental retardation
13FGFR3, ACHAchondroplasia
Thanatophoric dysplasia, type I
Crouzon syndrome with acanthosis nigricans
Muenke syndrome
Bladder cancer, somatic
Colorectal cancer, somatic
Cervical cancer, somatic
LADD syndrome
CATSHL syndrome
Nevus, keratinocytic, nonepidermolytic
Thanatophoric dysplasia, type II
Spermatocytic seminoma, somatic
12LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1BEmery-Dreifuss muscular dystrophy 2, AD
Cardiomyopathy, dilated, 1A
Lipodystrophy, familial partial, 2
Emery-Dreifuss muscular dystrophy 3, AR
Charcot-Marie-Tooth disease, type 2B1
Muscular dystrophy, congenital
Muscular dystrophy, limb-girdle, type 1B
Mandibuloacral dysplasia
Hutchinson-Gilford progeria
Restrictive dermopathy, lethal
Heart-hand syndrome, Slovenian type
Malouf syndrome
10PAX6, AN2, MGDAAniridia
Peters anomaly
Cataract with late-onset corneal dystrophy
Foveal hyperplasia
Morning glory disc anomaly
Optic nerve hypoplasia
Coloboma, ocular
Coloboma of optic nerve
Gillespie syndrome
10FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1Heterotopia, periventricular
Otopalatodigital syndrome, type I
Otopalatodigital syndrome, type II
Intestinal pseudoobstruction, neuronal
Melnick-Needles syndrome
Frontometaphyseal dysplasia
Heterotopia, periventricular, ED variant
FG syndrome 2
Cardiac valvular dysplasia, X-linked
Terminal osseous dysplasia
10TP53, P53, LFS1Colorectal cancer
Li-Fraumeni syndrome
Hepatocellular carcinoma
Choroid plexus papilloma
Nasopharyngeal carcinoma
Pancreatic cancer
Adrenal cortical carcinoma
Breast cancer
Li-Fraumeni-like syndrome
10SLC4A1, AE1, EPB3Ovalocytosis
Spherocytosis, type 4
Malaria, resistance to
Renal tubular acidosis, distal, AD
Renal tubular acidosis, distal, AR
Blood group, Diego
Blood group, Waldner
Blood group, Wright
Blood group, Froese
Blood group, Swann
9TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1Brachyolmia type 3
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Hereditary motor and sensory neuropathy, type IIc
Scapuloperoneal spinal muscular atrophy
Sodium serum level QTL 1
Parastremmatic dwarfism
SED, Maroteaux type
Spinal muscular atrophy, distal, congenital nonprogressive
9BRCA2, FANCD1, BROVCA2, GLM3, PNCA2Breast-ovarian cancer, familial, 2
Fanconi anemia, complementation group D1
Prostate cancer
Breast cancer, male, susceptibility to
Wilms tumor
Glioblastoma 3
Pre-B-cell acute lymphoblastic leukemia,
Pancreatic cancer
9SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2Long QT syndrome-3
Brugada syndrome 1
Heart block, progressive, type IA
Heart block, nonprogressive
Ventricular fibrillation, familial, 1
Sick sinus syndrome 1
Cardiomyopathy, dilated, 1E
Sudden infant death syndrome, susceptibility to
Atrial fibrillation, familial, 10
9FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICDMarfan syndrome
Shprintzen-Goldberg syndrome
Ectopia lentis, familial
MASS syndrome
Weill-Marchesani syndrome 2, dominant
Aortic aneurysm, ascending, and dissection
Stiff skin syndrome
Acromicric dysplasia
Geleophysic dysplasia 2
9COL1A1Osteogenesis imperfecta, type I
OI type II
OI type III
OI type IV
Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VIIA
Caffey disease
Bone mineral density variation QTL
9COL7A1Epidermolysis bullosa dystrophica, AD
Epidermolysis bullosa dystrophica, AR
Epidermolysis bullosa, pretibial
EBD, Bart type
EBD, localisata variant
Transient bullous of the newborn
Epidermolysis bullosa pruriginosa
Toenail dystrophy, isolated
EBD inversa
8APC, GS, FPC, BTPS2Adenomatous polyposis coli
Gastric cancer, somatic
Adenoma, periampullary, somatic
Hepatoblastoma, somatic
Desmoid disease, hereditary
Gardner syndrome
Colorectal cancer, somatic
Brain tumor-polyposis syndrome 2
8BEST1, VMD2, ARB, RP50Best macular dystrophy
Maculopathy, bull's-eye
Vitelliform macular dystrophy, adult-onset
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Retinitis pigmentosa-50
Retinitis pigmentosa, concentric
8LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4Osteoporosis-pseudoglioma syndrome
Bone mineral density variability 1
Hyperostosis, endosteal
van Buchem disease, type 2
Exudative vitreoretinopathy 4
Osteopetrosis, autosomal dominant 1
8GDF5, CDMP1, SYNS2, OS5Acromesomelic dysplasia, Hunter-Thompson type
Brachydactyly, type C
Chondrodysplasia, Grebe type
Fibular hypoplasia and complex brachydactyly
Brachydactyly, type A2
Symphalangism, proximal
Multiple synostoses syndrome 2
8KRAS, KRAS2, RASK2, NSLung cancer
Bladder cancer
Breast cancer, somatic
Pancreatic carcinoma, somatic
Gastric cancer
Leukemia, acute myelogenous
Noonan syndrome 3
Cardiofaciocutaneous syndrome
8PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2Retinitis pigmentosa 7
Retinitis punctata albescens
Macular dystrophy, patterned
Macular dystrophy, vitelliform
Foveomacular dystrophy, adult-onset, with choroidal neovascularization
Macular dystrophy
Retinitis pigmentosa, digenic
Choriodal dystrophy, central areolar 2
8PIK3CAOvarian cancer, somatic
Breast cancer, somatic
Colorectal cancer, somatic
Gastric cancer, somatic
Hepatocellular carcinoma, somatic
Nonsmall cell lung cancer, somatic
Keratosis, seborrheic, somatic
Nevus, epidermal
8HBBSickle cell anemia
Thalassemias, beta-
Erythremias, beta-
Methemoglobinemias, beta-
Heinz body anemias, beta-
Thalassemia-beta, dominant inclusion-body
Hereditary persistence of fetal hemoglobin
Delta-beta thalassemia
8GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1CPseudohypoparathyroidism Ia
McCune-Albright syndrome
Pseudohypoparathyroidism Ic
Osseous heteroplasia, progressive
Pseudohypoparathyroidism Ib
Prolonged bleeding time, brachydactyly and mental retardation
7SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNPErythermalgia, primary
Insensitivity to pain, channelopathy-associated
Paroxysmal extreme pain disorder
Febrile seizures, familial, 3B
Epilepsy, generalized, with febrile seizures plus, type 7
Small fiber neuropathy
Dravet syndrome
7TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Split-hand/foot malformation 4
Hay-Wells syndrome
ADULT syndrome
Limb-mammary syndrome
Rapp-Hodgkin syndrome
Orofacial cleft 8
7TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMDCorneal dystrophy, Groenouw type I
Corneal dystrophy, lattice type I
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Avellino type
Corneal dystrophy, lattice type IIIA
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, epithelial basement membrane
7PPARG, PPARG1, PPARG2, CIMT1, GLM1Obesity, severe
Obesity, resistance to
Glioblastoma, susceptibility to
Insulin resistance, severe, digenic
Lipodystrophy, familial partial, type 3
Carotid intimal medial thickness 1
Diabetes, type 2
7MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16Rett syndrome
Mental retardation, X-linked, syndromic 13
Rett syndrome, preserved speech variant
Encephalopathy, neonatal severe
Autism susceptibility, X-linked 3
Angelman syndrome
Mental retardation, X-linked syndromic, Lubs type
7RET, MEN2A, HSCR1Multiple endocrine neoplasia IIA
Medullary thyroid carcinoma
Multiple endocrine neoplasia IIB
Central hypoventilation syndrome, congenital
Renal agenesis
Hirschsprung disease, susceptibility to, 1
7BRAF, NS7Melanoma, malignant, somatic
Colorectal cancer, somatic
Adenocarcinoma of lung, somatic
Nonsmall cell lung cancer, somatic
Cardiofaciocutaneous syndrome
Noonan syndrome 7
LEOPARD syndrome 3
7MPZ, CMT1B, CMTDI3, CHM, DSSCharcot-Marie-Tooth disease, type 1B
Dejerine-Sottas disease
Neuropathy, congenital hypomyelinating
Charcot-Marie-Tooth disease, type 2J
Roussy-Levy syndrome
Charcot-Marie-Tooth disease, type 2I
Charcot-Marie-Tooth disease, dominant intermediate 3
7HOXD13, HOX4I, SPD, BDSDSynpolydactyly, type II
Brachydactyly, type E
Brachydactyly, type D
Synpolydactyly with foot anomalies
Syndactyly, type V
Brachydactyly-syndactyly syndrome
VACTERL association
7GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HIDDeafness, autosomal recessive 1A
Deafness, autosomal dominant 3A
Vohwinkel syndrome
Keratoderma, palmoplantar, with deafness
Keratitis-ichthyosis-deafness syndrome
Hystrix-like ichthyosis with deafness
Bart-Pumphrey syndrome
7PSEN1, AD3Alzheimer disease, type 3
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Alzheimer disease, type 3, with spastic paraparesis and apraxia
Dementia, frontotemporal
Pick disease
Cardiomyopathy, dilated, 1U
Acne inversa, familial, 3
6MEN1Multiple endocrine neoplasia 1
Carcinoid tumor of lung
Parathyroid adenoma, somatic
Lipoma, somatic
Angiofibroma, somatic
Adrenal adenoma, somatic
6HFE, HLA-H, HFE1, MVCD7, TFQTL2Hemochromatosis
Microvascular complications of diabetes 7
Porphyria variegata, susceptibility to
Porphyria cutanea tarda, susceptibility to
Alzheimer disease, susceptibility to
Transferrin serum level QTL2
6NF1, VRNF, WSS, NFNSNeurofibromatosis, type 1
Leukemia, juvenile myelomonocytic
Melanoma, desmoplastic neurotrophic
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Watson syndrome
6ERCC6, CKN2, COFS1, CSB, ARMD5Cockayne syndrome, type B
Cerebrooculofacioskeletal syndrome 1
De Sanctis-Cacchione syndrome
Macular degeneration, age-related, susceptibility to 5
UV-sensitive syndrome
Lung cancer, susceptibility to
6WT1, NPHS4Wilms tumor, type 1
Denys-Drash syndrome
Nephrotic syndrome, type 4
Frasier syndrome
Meacham syndrome
Mesothelioma, somatic
6TYR, SHEP3, CMM8Albinism, oculocutaneous, type IA
Waardenburg syndrome/albinism, digenic
Albinism, oculocutaneous, type IB
Skin/hair/eye pigmentation 3, light/dark/freckling skin
Melanoma, cutaneous malignant, susceptibility to, 8
Skin/hair/eye pigmentation 3, blue/green eyes
6SLC26A2, DTD, DTDST, D5S1708, EDM4Diastrophic dysplasia
Atelosteogenesis II
Achondrogenesis Ib
Epiphyseal dysplasia, multiple, 4
Diastrophic dysplasia, broad bone-platyspondylic variant
De la Chapelle dysplasia
6BCL10Lymphoma, MALT, somatic
Lymphoma, follicular, somatic
Male germ cell tumor, somatic
Sezary syndrome, somatic,
Colon cancer, somatic
Mesothelioma, somatic
6SDHD, PGL1Paragangliomas 1, with or without deafness
Carcinoid tumors, intestinal
Merkel cell carcinoma, somatic
Paraganglioma and gastric stromal sarcoma
Cowden-like syndrome
6CFTR, ABCC7, CF, MRP7Cystic fibrosis
Congenital bilateral absence of vas deferens
Sweat chloride elevation without CF
Pancreatitis, idiopathic
Hypertrypsinemia, neonatal
Bronchiectasis with or without elevated sweat chloride 1, modifier of
6ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2Stargardt disease 1
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Macular degeneration, age-related, 2
Fundus flavimaculatus
Retinal dystrophy, early-onset severe
6CAV3, LGMD1C, LQT9Muscular dystrophy, limb-girdle, type IC
Rippling muscle disease
Creatine phosphokinase, elevated serum
Myopathy, distal, Tateyama type
Cardiomyopathy, familial hypertrophic
Long QT syndrome-9
6L1CAM, CAML1, HSAS1Hydrocephalus due to aqueductal stenosis
MASA syndrome
CRASH syndrome
Hydrocephalus with Hirschsprung disease
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction
Corpus callosum, partial agenesis of
6GATA1, GF1, ERYF1, NFE1, XLTTDyserythropoietic anemia with thrombocytopenia
Leukemia, megakaryoblastic, with or without Down syndrome
Leukemia, megakaryoblastic, of Down syndrome
Thrombocytopenia with beta-thalassemia, X-linked
Anemia, X-linked, without thrombocytopenia
6ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32Epileptic encephalopathy, early infantile, 1
Lissencephaly, X-linked 2
Mental retardation, X-linked 29 and others
Proud syndrome
Partington syndrome
Hydranencephaly with abnormal genitalia
6IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1Incontinentia pigmenti, type II
Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
Immunodeficiency, isolated
Atypical mycobacteriosis, familial
Invasive pneumococcal disease, recurrent isolated, 2
6TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFCCardiomyopathy, familial hypertrophic, 9
Cardiomyopathy, dilated, 1G
Tibial muscular dystrophy, tardive
Muscular dystrophy, limb-girdle, type 2J
Myopathy, proximal, with early respiratory muscle involvement
Myopathy, early-onset, with fatal cardiomyopathy
6PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ADOHRCarney complex, type 1
Myxoma, intracardiac
Thyroid carcinoma, papillary, somatic
Pigmented nodular adrenocortical disease, primary, 1
Adrenocortical tumor, somatic,
Acrodysostosis with hormone resistance
6HTR2ASchizophrenia, susceptibility to
Obsessive-compulsive disorder, susceptibility to
Seasonal affective disorder, susceptibility to
Alcohol dependence, susceptibility to
Anorexia nervosa, susceptibility to
Major depressive disorder, response to citalopram therapy in
6KIT, PBTPiebaldism
Mast cell leukemia
Mastocytosis with associated hematologic disorder
Germ cell tumors
Gastrointestinal stromal tumor, somatic
Leukemia, acute myeloid
6NOS3Coronary artery spasm 1, susceptibility to
Alzheimer disease, late-onset, susceptibility to
Hypertension, susceptibility to
Hypertension, pregnancy-induced
Placental abruption
Ischemic stroke, susceptibility to
6MYH9, MHA, FTNS, DFNA17, BDPLT6May-Hegglin anomaly
Fechtner syndrome
Sebastian syndrome
Deafness, autosomal dominant 17
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
6MYH7, CMH1, MPD1, CMD1S, SPMM, SPMDCardiomyopathy, familial hypertrophic, 1
Cardiomyopathy, dilated, 1S
Myopathy, myosin storage
Laing distal myopathy
Scapuloperoneal syndrome, myopathic type
Left ventricular noncompaction 5
6MAPT, MTBT1, DDPAC, MSTDDementia, frontotemporal, with or without parkinsonism
Pick disease
Supranuclear palsy, progressive
Supranuclear palsy, progressive atypical
Parkinson disease, susceptibility to
Tauopathy and respiratory failure
6MC1R, SHEP2, CMM5Skin/hair/eye pigmentation 2, red hair/fair skin
Skin/hair/eye pigmentation 2, blond hair/fair skin
Analgesia from kappa-opioid receptor agonist, female-specific
UV-induced skin damage
Oculocutaneous albinism, type II, modifier of
Melanoma, cutaneous malignant, 5
6KRT14Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Weber-Cockayne type
6KRT5, DDDEpidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease
Epidermolysis bullosa simplex with migratory circinate erythema
6JAK2Polycythemia vera
Thrombocythemia, essential
Myelofibrosis, idiopathic
Budd-Chiari syndrome
Leukemia, acute myelogenous
Myeloproliferative disorder with erythrocytosis
6HLA-B, SPDA1Spondyloarthropathy, susceptibility to, 1
Abacavir hypersensitivity, susceptibility to
Synovitis, chronic, susceptibility to
Drug-induced liver injury due to flucloxacillin
Toxic epidermal necrolysis, susceptibility to
Stevens-Johnson syndrome, susceptibility to
Diabetes mellitus, noninsulin-dependent, 2
Diabetes mellitus, insulin-dependent
Hepatic adenoma
Renal cell carcinoma
Diabetes mellitus, insulin-dependent, 20
6FGFR1, FLT2, KAL2, OGDPfeiffer syndrome
Jackson-Weiss syndrome
Kallmann syndrome 2
Hypogonadotropic hypogonadism
Osteoglophonic dysplasia
6ESR1, ESRBreast cancer
Estrogen resistance
HDL response to hormone replacement, augmented
Migraine, susceptibility to
Atherosclerosis, susceptibility to
Myocardial infarction, susceptibility to
6GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3Oculodentodigital dysplasia
Syndactyly, type III
Hypoplastic left heart syndrome
Atrioventricular septal defect 3
Oculodentodigital dysplasia, autosomal recessive
Hallermann-Streiff syndrome
6COL1A2Ehlers-Danlos syndrome, type VIIB
Osteogenesis imperfecta, type IV
Osteogenesis imperfecta, type III
Osteogenesis imperfecta, type II
Osteoporosis, postmenopausal
Ehlers-Danlos syndrome, cardiac valvular form
6APOE, AD2, LPG, LDLCQ5Hyperlipoproteinemia, type III
Myocardial infarction susceptibility
Sea-blue histiocyte disease
Alzheimer disease-2
Macular degeneration, age-related
Lipoprotein glomerulopathy
6IFNGR1Mycobacterial infection, atypical, familial disseminated
BCG infection, generalized familial
H. pylori infection, susceptibility to
Tuberculosis, susceptibility to
Mycobacterium tuberculosis infection, protection against
Hepatitis B virus infection, susceptibility to
6ACE, DCP1, ACE1, MVCD3Myocardial infarction, susceptibility to
Alzheimer disease, susceptibility to
Microvascular complications of diabetes 3
Angiotensin I-converting enzyme, benign serum increase
SARS, progression of
Renal tubular dysgenesis
Osteosarcoma, somatic
Bladder cancer, somatic
Small cell cancer of the lung, somatic
Retinoblastoma, trilateral
5F5Factor V deficiency
Thrombophilia, susceptibility to, due to factor V Leiden
Stroke, ischemic, susceptibility to
Budd-Chiari syndrome
Thrombophilia, susceptibility to, due to activated protein C resistance
5CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome type 4
Bardet-Biedl syndrome 14
5TMEM67, MKS3, JBTS6, NPHP11Meckel syndrome, type 3
Joubert syndrome 6
Bardet-Biedl syndrome 14, modifier of
COACH syndrome
Nephronophthisis 11
5VHLvon Hippel-Lindau syndrome
Renal cell carcinoma, somatic
Hemangioblastoma, cerebellar, somatic
Erythrocytosis, familial, 2
5ATM, ATA, AT1Ataxia-telangiectasia
Lymphoma, B-cell non-Hodgkin, somatic
Breast cancer, susceptibility to
Lymphoma, mantle cell
T-cell prolymphocytic leukemia, sporadic
5KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2Long QT syndrome-1
Jervell and Lange-Nielsen syndrome
Atrial fibrillation, familial, 3
Short QT syndrome-2
Long QT syndrome 1, acquired, susceptibility to
5MTHFRHomocystinuria due to MTHFR deficiency
Schizophrenia, susceptibility to
Vascular disease, susceptibility to
Neural tube defects, susceptibility to
Thromboembolism, susceptibility to
5GBAGaucher disease, type I
Gaucher disease, type II
Gaucher disease, type III
Gaucher disease, type IIIC
Gaucher disease, perinatal lethal
5LMBR1, ACHP, C7orf2, PPD2Acheiropody
Polydactyly, preaxial type II
Triphalangeal thumb, type I
Triphalangeal thumb-polysyndactyly syndrome
Syndactyly, type IV
5CHEK2, RAD53, CHK2, CDS1, LFS2Li-Fraumeni syndrome
Osteosarcoma, somatic
Breast cancer, susceptibility to
Prostate cancer, familial, susceptibility to
Breast and colorectal cancer, susceptibility to
5FLNB, SCT, AOI, LRS1Spondylocarpotarsal synostosis syndrome
Larsen syndrome
Atelostogenesis, type I
Atelosteogenesis, type III
Boomerang dysplasia
5TSHR, CHNG1Hypothyroidism, congenital, nongoitrous, 1 275200
Thyroid adenoma, hyperfunctioning, somatic
Hyperthyroidism, nonautoimmune
Thyroid carcinoma with thyrotoxicosis
Hyperthyroidism, familial gestational
5GJB3, CX31, DFNA2BErythrokeratodermia variabilis et progressiva
Deafness, autosomal dominant 2B
Deafness, autosomal recessive
Deafness, autosomal dominant, with peripheral neuropathy
Deafness, digenic, GJB2/GJB3
5NOG, SYM1, SYNS1Symphalangism, proximal
Multiple synostosis syndrome 1
Tarsal-carpal coalition syndrome
Stapes ankylosis with broad thumb and toes
Brachydactyly, type B2
5CYP1B1, GLC3AGlaucoma 3A, primary congenital
Peters anomaly
Glaucoma, early-onset, digenic
Glaucoma, primary open angle, adult-onset
Glaucoma, primary open angle, juvenile-onset
5EYA1, BORBranchiootorenal syndrome
Branchiootic syndrome
Anterior segment anomalies and cataract
Branchiootorenal syndrome with cataract
Otofaciocervical syndrome
5CASR, HHC1, PCAR1, FIH, EIG8Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Epilepsy, idiopathic generalized, susceptibility to, 8
5PMP22, CMT1A, CMT1E, DSSCharcot-Marie-Tooth disease, type 1A
Dejerine-Sottas disease
Neuropathy, recurrent, with pressure palsies
Charcot-Marie-Tooth disease, type 1E
Roussy-Levy syndrome
5KCNJ11, BIR, PHHI, HHF2, TNDM3Hyperinsulinemic hypoglycemia, familial, 2
Diabetes, permanent neonatal
Diabetes mellitus, permanent neonatal, with neurologic features
Diabetes mellitus, type 2, susceptibility to
Diabetes mellitus, transient neonatal, 3
5SHH, HPE3, HLP3, SMMCI, MCOPCB5Holoprosencephaly-3
Single median maxillary central incisor
Coloboma, ocular
Microphthalmia with coloboma 5
5ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia of infancy, leucine-sensitive
Diabetes mellitus, transient neonatal 2, 610374
Diabetes mellitus, noninsulin-dependent
Diabetes mellitus, permanent neonatal
5CDKN2A, MTS1, P16, MLM, CMM2Melanoma, cutaneous malignant, 2
Li-Fraumeni syndrome
Melanoma and neural system tumor syndrome
Pancreatic cancer/melanoma syndrome
Orolaryngeal cancer, multiple,
5AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1Androgen insensitivity
Spinal and bulbar muscular atrophy of Kennedy
Androgen insensitivity, partial, with or without breast cancer
Prostate cancer, susceptibility to
Hypospadias 1, X-linked
5PRPS1, CMTX5, DFNX1, DFN2Gout, PRPS-related
Phosphoribosylpyrophosphate synthetase superactivity
Charcot-Marie-Tooth disease, X-linked recessive, 5
Arts syndrome
Deafness, X-linked 1
5FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1BScapuloperoneal myopathy, X-linked dominant
Myopathy, X-linked, with postural muscle atrophy
Myopathy, reducing body, X-linked, severe early-onset
Myopathy, reducing body, X-linked, childhood-onset
Emery-Dreifuss muscular dystrophy 6, X-linked
5CDH1, UVO, LCAM, ECADEndometrial carcinoma, somatic
Ovarian carcinoma, somatic
Breast cancer, lobular
Gastric cancer, familial diffuse, with or without cleft lip and/or palate
Prostate cancer, susceptibility to
5UGT1A1, UGT1, GNT1, BILIQTL1Crigler-Najjar syndrome, type I
Gilbert syndrome
Crigler-Najjar syndrome, type II
Hyperbilirubinemia, familial transcient neonatal
Bilirubin, serum level of, QTL1
5TNF, TNFAMalaria, cerebral, susceptibility to
Septic shock, susceptibility to
Asthma, susceptibility to
Dementia, vascular, susceptibility to
Migraine without aura, susceptibility to
5TERT, TCS1, EST2, DKCA2, DKCB4Aplastic anemia, susceptibility to
Pulmonary fibrosis,idiopathic, susceptibility to
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal recessive 4
Coronary artery disease, susceptiblity to
5SDHB, SDH2, SDHIP, PGL4Paragangliomas 4
Paraganglioma and gastric stromal sarcoma
Cowden-like syndrome
Gastrointestinal stromal tumor
5INS, MODY10, IDDM2Hyperproinsulinemia, familial, with or without diabetes
Maturity-onset diabetes of the young, type 10
Diabetes mellitus, permanent neonatal
Diabetes mellitus, type 1
Diabetes mellitus, insulin-dependent, 2
5PRNP, PRIPCreutzfeldt-Jakob disease
Gerstmann-Straussler disease
Insomnia, fatal familial
Prion disease with protracted course
Huntington disease-like 1
5POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRASProgressive external ophthalmoplegia, autosomal recessive
Progressive external ophthalmoplegia, autosomal dominant
Mitochondrial DNA depletion syndrome 4B MNGIE type
Mitochondrial DNA depletion syndrome 4A Alpers type
Mitochondrial recessive ataxia syndrome includes SANDO and SCAE
5CD36, CHDS7, BDPLT10Macrothrombocytopenia
Platelet glycoprotein IV deficiency
Malaria, cerebral, susceptibility to
Malaria, cerebral, reduced risk of
Coronary heart disease, susceptibility to, 7
5ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2Ossification of posterior longitudinal ligament of spine
Diabetes mellitus, non-insulin-dependent, susceptibility to
Obesity, susceptibility to
Arterial calcification, generalized, of infancy
Hypophosphatemic rickets, autosomal recessive, 2
5GLI3, PAPA, PAPBGreig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly, preaxial, type IV
Polydactyly, postaxial, types A1 and B
Hypothalamic hamartomas, somatic
5AKT1Breast cancer, somatic
Colorectal cancer, somatic
Ovarian cancer, somatic
Schizophrenia, susceptibility to
Proteus syndrome, somatic
5LHCGR, LHR, LCGRPrecocious puberty, male
Leydig cell hypoplasia with pseudohermaphroditism
Leydig cell hypoplasia with hypergonadotropic hypogonadism
Luteinizing hormone resistance, female
Leydig cell adenoma, somatic, with precocious puberty
5IL6, IFNB2, BSF2, HSF, HGFRheumatoid arthritis, systemic juvenile
Kaposi sarcoma, susceptibility to
Diabetes, susceptibility to, 222100
Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to
Crohn disease-associated growth failure
5IFNG, IFG, IFITSC2 angiomyolipomas, renal, modifier of
Aplastic anemia
Tuberculosis, protection against
AIDS, rapid progression to
Hepatitis C virus, response to therapy of
5HBA2, HBHThalassemia, alpha-
Heinz body anemia
Hypochromic microcytic anemia
Hemoglobin H disease, nondeletional
5HBA1, HBHThalassemias, alpha-
Methemoglobinemias, alpha-
Erythremias, alpha-
Heinz body anemias, alpha-
Hemoglobin H disease, nondeletional
5KRT1, EPPK, NEPPK, EHKEpidermolytic hyperkeratosis
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic
Plamoplantar keratoderma, epidermolytic
Keratosis palmoplantaris striata III
Diabetes mellitus, noninsulin-dependent, late onset
Diabetes mellitus, gestational
Hyperinsulinemic hypoglycemia, familial, 3
Diabetes mellitus, permanent neonatal
5DSP, KPPS2, PPKS2Keratosis palmoplantaris striata II
Dilated cardiomyopathy with woolly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Skin fragility-woolly hair syndrome
Epidermolysis bullosa, lethal acantholytic
5COL11A2, STL3, DFNA13, DFNB53Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Deafness, autosomal dominant 13
Deafness, autosomal recessive 53
5CTNNB1Colorectal cancer
Ovarian cancer
Hepatocellular carcinoma
5BDNFMemory impairment, susceptibility to
Central hypoventilation syndrome, congenital
Obsessive-compulsive disorder, protection against
Bulimia nervosa, age of onset of weight loss in
Anorexia nervosa, susceptibility to
4GLB1, MPS4BGM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
Mucopolysaccharidosis type IVB Morquio
4OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1Albinism, oculocutaneous, type II
Albinism, brown oculocutaneous
Skin/hair/eye pigmentation 1, blue/nonblue eyes
Skin/hair/eye pigmentation 1, blond/brown hair
4CHD7, IS3, KAL5CHARGE syndrome
Scoliosis, idiopathic 3
Kallmann syndrome 5
Hypogonadotropic hypogonadism
4FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 4
Muscular dystrophy-dystroglycanopathy congenital without mental retardation, type B, 4
Cardiomyopathy, dilated, 1X
Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 4
4HRPT2, C1orf28Hyperparathyroidism-jaw tumor syndrome
Hyperparathyroidism, familial primary
Parathyroid adenoma with cystic changes
Parathyroid carcinoma
4FLCN, BHDBirt-Hogg-Dube syndrome
Pneumothorax, primary spontaneous
Renal carcinoma, chromophobe, somatic
Colorectal cancer, somatic
4NSD1, ARA267, STOSotos syndrome
Leukemia, acute myeloid
Weaver syndrome
Beckwith-Wiedemann syndrome
4GP1BA, BSS, BDPLT1, VWDP, BDPLT3Bernard-Soulier syndrome, type A1 recessive
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Bernard-Soulier syndrome, type A2 dominant
von Willebrand disease, platelet-type
4TREX1, AGS1, CRV, HERNSAicardi-Goutieres syndrome 1, dominant and recessive
Chilblain lupus
Vasculopathy, retinal, with cerebral leukodystrophy
Systemic lupus erythematosus, susceptibility to
4GDAP1, CMT4A, CMT2K, CMTRIACharcot-Marie-Tooth disease, type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, recessive intermediate, A
4PAX3, WS1, HUP2, CDHS, WS3Waardenburg syndrome, type 1
Waardenburg syndrome, type 3
Craniofacial-deafness-hand syndrome
Rhabdomyosarcoma 2, alveolar
4CTNSCystinosis, nephropathic
Cystinosis, ocular nonnephropathic
Cystinosis, late-onset juvenile or adolescent nephropathic
Cystinosis, atypical nephropathic
4TIRAP, BACTS1Pneumococcal disease, invasive, protection against
Bacteremia, protection against
Malaria, protection against
Tuberculosis, protection against
4SLC45A2, MATP, AIM1, SHEP5Oculocutaneous albinism, type IV
Skin/hair/eye pigmentation 5, black/nonblack hair
Skin/hair/eye pigmentation 5, dark/fair skin
Skin/hair/eye pigmentation 5, dark/light eyes
4WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSLWolfram syndrome
Deafness, autosomal dominant 6/14/38
Wolfram-like syndrome, autosomal dominant
Diabetes mellitus, noninsulin-dependent, association with
4NOD2, CARD15, IBD1, CD, ACUG, PSORAS1Inflammatory bowel disease 1
Blau syndrome
Psoriatic arthritis, susceptibility to
Sarcoidosis, early-onset
4GJB6, CX30, DFNA3B, HED, ED2, DFNB1BDeafness, autosomal dominant 3B
Ectodermal dysplasia, hidrotic
Deafness, autosomal recessive 1B
Deafness, digenic GJB2/GJB6
4PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4Retinitis pigmentosa 41
Cone-rod dystrophy 12
Stargardt disease 4
Macular dystrophy, retinal, 2
4SCN4A, HYPP, NAC1A, HOKPP2Hyperkalemic periodic paralysis, type 2
Paramyotonia congenita
Myotonia congenita, atypical, acetazolamide-responsive
Myasthenic syndrome, acetazolamide-responsive
4BCS1L, FLNMS, GRACILE, BJS, PTDMitochondrial complex III deficiency
GRACILE syndrome
Leigh syndrome
Bjornstad syndrome
4PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14Infantile neuroaxonal dystrophy 1
Neurodegeneration with brain iron accumulation 2B
Karak syndrome
Parkinson disease 14
4PITX3, CTPP4Anterior segment mesenchymal dysgenesis
Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar, 4, syndromic
4PRKN, PARK2, PDJ, LPRS2Parkinson disease, juvenile, type 2
Adenocarcinoma of lung, somatic
Adenocarcinoma, ovarian, somatic
Leprosy, susceptibility to
4STK11, PJS, LKB1Peutz-Jeghers syndrome
Melanoma, malignant sporadic
Pancreatic cancer, sporadic
Testicular tumor, sporadic
4CASP8, MCH5, ALPS2BAutoimmune lymphoproliferative syndrome, type IIB
Hepatocellular carcinoma, somatic
Breast cancer, protection against
Lung cancer, protection against
4PITX2, IDG2, RIEG1, RGS, IGDS2Axenfeld-Rieger syndrome, type 1
Iridogoniodysgenesis, type 2
Ring dermoid of cornea
Peters anomaly
4CCR5, CMKBR5, CCCKR5, IDDM22HIV infection, susceptibility/resistance to
West nile virus, susceptibility to
Hepatitis C virus, resistance to
Diabetes mellitus, insulin-dependent, 22
4PLEC1, PLEC, PLTN, EBS1, LGMD2QMuscular dystrophy with epidermolysis bullosa simplex
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with pyloric atresia
Muscular dystrophy, limb-girdle, type 2Q
4FOXC1, FKHL7, FREAC3, IRID1, RIEG3Iridogoniodysgenesis, type 1
Rieger or Axenfeld anomalies
Axenfeld-Rieger syndrome, type 3
Iris hypoplasia and glaucoma
4CACNA1A, CACNL1A4, SCA6Migraine, familial hemiplegic, 1
Episodic ataxia, type 2
Spinocerebellar ataxia 6
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
4GHRLaron dwarfism
Short stature
Hypercholesterolemia, familial, modification of
Increased responsiveness to growth hormone
4GJA8, CX50, CAE1Cataract, zonular pulverulent-1
Cataract, nuclear progressive
Cataract-microcornea syndrome
Cataract, nuclear pulverulent
4HADHA, MTPALCHAD deficiency
Trifunctional protein deficiency
HELLP syndrome, maternal, of pregnancy
Fatty liver, acute, of pregnancy
4SDHA, SDH1, SDHF, CMD1GG, PGL5Leigh syndrome
Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Paragangliomas 5
4CPT2, IIAE4Myopathy due to CPT II deficiency
CPT deficiency, hepatic, type II
CPT II deficiency, lethal neonatal
Encephalopathy, acute, infection-induced, 4, susceptibility to
4NKX2E, CSX, CHNG5Atrial septal defect with atrioventricular conduction defects
Tetrology of Fallot
Atrioventricular block, second-degree
Hypothyroidism, congenital nongoitrous, 5
4SMN1, SMA1, SMA2, SMA3, SMA4Spinal muscular atrophy-1
Spinal muscular atrophy-2
Spinal muscular atrophy-3
Spinal muscular atrophy-4
4RPGR, RP3, CRD, RP15, COD1, CORDX1Retinitis pigmentosa 3
Cone-rod dystrophy-1
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Macular degeneration, X-linked atrophic
4WAS, IMD2, THC1, SCNXWiskott-Aldrich syndrome
Thrombocytopenia, X-linked
Neutropenia, severe congenital, X-linked
Thrombocytopenia, X-linked, intermittent
4CLCN5, CLCK2, NPHL2, DENTS, NPHL1Dent disease
Nephrolithiasis, type I
Hypophosphatemic rickets
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
4TNNT2, CMH2, CMD1D, RCM3, LVNC6Cardiomyopathy, familial hypertrophic, 2
Cardiomyopathy, dilated, 1D
Cardiomyopathy, familial restrictive, 3
Left ventricular noncompaction 6
4TNNI3, CMH7, CMD2A, RCM1, CMD1FFCardiomyopathy, familial hypertrophic, 7
Cardiomyopathy, familial restrictive
Cardiomyopathy, dilated, 2A
Cardiomyopathy, dilated, 1FF
4TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2BColorectal cancer, hereditary nonpolyposis, type 6
Esophageal cancer, somatic
Loeys-Dietz syndrome, type 1B
Loeys-Dietz syndrome, type 2B
4NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF846XY sex reversal 3
Premature ovarian failure 7
Adrenocortical insufficiency
Spermatogenic failure 8
4SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3Epilepsy, generalized, with febrile seizures plus, type 2
Dravet syndrome
Migraine, familial hemiplegic, 3
Febrile seizures, familial, 3A
4RYR1, MHS, CCOMalignant hyperthermia susceptibility 1
Central core disease
Minicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
4RLBP1Fundus albipunctatus
Retinitis punctata albescens
Newfoundland rod-cone dystrophy
Bothnia retinal dystrophy
4RAG1Severe combined immunodeficiency, B cell-negative
Omenn syndrome, 603554
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Combined cellular and humoral immune defects with granulomas
Thrombosis, susceptibility to
Stroke, ischemic, susceptibility to
4PTPN11, PTP2C, SHP2, NS1Noonan syndrome 1
LEOPARD syndrome 1
Leukemia, juvenile myelomonocytic
4PSAP, SAP1Metachromatic leukodystrophy due to SAP-b deficiency
Gaucher disease, atypical
Combined SAP deficiency
Krabbe disease, atypical
4ITGB3, GP3A, GT, BDPLT2Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune
Myocardial infarction, susceptibility to
Purpura, posttransfusion
4PLGPlasminogen Tochigi disease
Thrombophilia, dysplasminogenemic
Plasminogen deficiency, types I and II
Conjunctivitis, ligneous
4ALPL, HOPS, TNSALPHypophosphatasia, infantile
Hypophosphatasia, childhood
Hypophosphatasia, adult
4PON1, PON, ESA, MVCD5Coronary artery disease, susceptibility to
{Coronary artery spasm 2, susceptibility to
Organophosphate poisoning, sensitivity to
Microvascular complications of diabetes 5
4PTHR1, PTHR, PFEMetaphyseal chondrodysplasia, Murk Jansen type
Chondrodysplasia, Blomstrand type
Eiken syndrome
Failure of tooth eruption, primary
4ERBB2, NGL, NEU, HER2Adenocarcinoma of lung, somatic
Glioblastoma, somatic
Gastric cancer, somatic
Ovarian cancer, somatic,
4NRAS, ALPS4, NS6Colorectal cancer
Thyroid carcinoma, follicular
Autoimmune lymphoproliferative syndrome type IV
Noonan syndrome 6
4MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3Cardiomyopathy, familial hypertrophic, 14
Atrial septal defect 3
Cardiomyopathy, dilated, 1EE
Sick sinus syndrome 3
4CCL2, SCYA2, MCP1, MCAFHIV-1, resistance to
Spina bifida, susceptibility to
Coronary artery disease, modifier of
Mycobacterium tuberculosis, susceptibility to
4KRT16, FNEPPKPachyonychia congenita, Jadassohn-Lewandowsky type
Palmoplantar keratoderma, nonepidermolytic
Palmoplantar verrucous nevus, unilateral
Palmoplantar keratoderma, nonepidermolytic, focal
4INSR, HHF5Leprechaunism
Rabson-Mendenhall syndrome
Diabetes mellitus, insulin-resistant, with acanthosis nigricans
Hyperinsulinemic hypoglycemia, familial, 5
4IRF1, MARMyelodysplastic syndrome, preleukemic
Myelogenous leukemia, acute
Gastric cancer, somatic
Nonsmall cell lung cancer, somatic
4HLA-DRB1, SS1Pemphigoid, susceptibility to
Sarcoidosis, susceptibility l, 1
Multiple sclerosis, susceptibility to
Rheumatoid arthritis, susceptibility to
4GH1, GHN, IGHD1BGrowth hormone deficiency, isolated, type IA
Growth hormone deficiency, isolated, type IB
Growth hormone deficiency, isolated, type II
Kowarski syndrome
4GATA2, DCML, MONOMACDendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Emberger syndrome
Myelodysplastic syndrome, susceptibility to
Leukemia, acute myeloid, susceptibility to
4GABRG2, GEFSP3, CAE2, ECA2Epilepsy, generalized, with febrile seizures plus, type 3
Epilepsy, childhood absence, susceptibility to, 2
Febrile seizures, familial, 8
Dravet syndrome
4FGADysfibrinogenemia, alpha type, causing bleeding diathesis
Dysfibrinogenemia, alpha type, causing recurrent thrombosis
Amyloidosis, hereditary renal
Afibrinogenemia, congenital
4HF1, CFH, HUS, ARMD4, AHUS1Hemolytic uremic syndrome, atypical, susceptibility to, 1
Complement factor H deficiency
Macular degeneration, age-related, 4
Basal laminar drusen
4EPHX1Fetal hydantoin syndrome
Diphenylhydantoin toxicity
Hypercholanemia, familial
Preeclampsia, susceptibility to
4SLC6A3, DAT1Attention-deficit hyperactivity disorder, susceptibility to
Nicotine dependence, protection against
Major affective disorder
Parkinsonism-dystonia, infantile
4DSPP, DPP, DGI1, DFNA39, DTDP2Dentinogenesis imperfecta, Shields type II
Deafness, autosomal dominant 36, with dentinogenesis
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
4CYP11B2Hypoaldosteronism, congenital, due to CMO II deficiency
Hypoaldosteronism, congenital, due to CMO I deficiency
Low renin hypertension, susceptibility to
Aldosterone to renin ratio raised
4CYP2C, CYP2C19Mephenytoin poor metabolizer
Opremazole poor metabolizer
Proguanil poor metabolizer
Clopidogrel, impaired responsiveness to
4CTLA4, IDDM12, CELIAC3, GRD4Graves disease, susceptibility to, 4
Hypothyroidism, autoimmune
Diabetes mellitus, insulin-dependent, susceptibility to
Celiac disease, susceptibility to, 3
4CRYGD, CRYG4, CCPCataracts, punctate, progressive juvenile-onset
Cataract, crystalline aculeiform
Cataract, congenital, cerulean type, 3
Cataract, nonnuclear polymorphic congenital
4CR1, C3BRCR1 deficiency
SLE susceptibility
Blood group, Knops system
Malaria, severe, resistance to
4COL11A1, STL2Stickler syndrome, type II
Marshall syndrome
Lumbar disc herniation, susceptibility to
Brain small vessel disease with hemorrhage
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with Axenfeld-Rieger anomaly
4APOA1ApoA-I and apoC-III deficiency, combined
Corneal clouding, autosomal recessive
Amyloidosis, 3 or more types
4SERPINA1, PI, AATEmphysema due to AAT deficiency
Emphysema-cirrhosis, due to AAT deficiency
Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh
Pulmonary disease, chronic obstructive, susceptibility to
4ACTA1, ASMA, NEM3, NEM1, CFTD1Myopathy, nemaline, 3
Myopathy, actin, congenital, with excess of thin myofilaments
Myopathy, actin, congenital, with cores
Myopathy, congenital, with fiber-type disproportion 1
4ACTC1, CMD1R, CMH11, ASD5, LVNC4Cardiomyopathy, dilated, 1R
Cardiomyopathy, familial hypertrophic, 11
Atrial septal defect 5
Left ventricular noncompaction 4
4ALDH2Alcohol sensitivity, acute
Hangover, susceptibility to
Sublingual nitroglycerin, susceptibility to poor response to
Esophageal cancer, alcohol-related, susceptibility to
3DARC, FY, GPD, WBCQ1Blood group, Duffy system
Malaria, vivax, protection against
White blood cell count QTL
3FGQTL6, BWQTL3, PGQTL1Fasting plasma glucose level QTL 6
Birth weight QTL 3
Plasma glucose, 2-hour, QTL 1
3VWF, F8VWFvon Willebrand disease, type 2A, 2B, 2M, and 2N
von Willebrand disease, type 1
von Willibrand disease, type 3
3LU, AU, BCAMBlood group, Lutheran system
Blood group, Auberger system
Blood group, Lutheran null
3CC2D2A, KIAA1345, MKS6Joubert syndrome 9
Meckel syndrome, type 6
COACH syndrome
3C2orf25, MMADHCHomocystinuria, cblD type, variant 1
Methylmalonic aciduria, cblD type, variant 2
Methylmalonic aciduria and homocystinuria, cblD type
3DEL16p11.2, C16DELp11.2, AUTS14, DUP16p11.2, C16DUPp11.2Chromosome 16p11.2 deletion syndrome, 593kb
Autism susceptibility 14
Chromosome 16p11.2 duplication syndrome
3KIF7, HLS2, ACLS, JBTS12Hydrolethalus syndrome 2
Acrocallosal syndrome
Joubert syndrome 12
3RPGRIP1L, KIAA1005, JBTS7, MKS5Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome
3PALB2, FANCN, PNCA3Fanconi anemia, complementation group N
Breast cancer, susceptibility to
Pancreatic cancer, susceptibility to, 3
3SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4Corneal endothelial dystrophy 2
Corneal endothelial dystrophy and perceptive deafness
Corneal dystrophy, Fuchs endothelial, 4
3LPL, LIPD, HDLCQ11Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
High density lipoprotein cholesterol level QTL 11
3MSH2, COCA1, FCC1, HNPCC1Colorectal cancer, hereditary nonpolyposis, type 1
Muir-Torre syndrome
Mismatch repair cancer syndrome
3SLC6A19, HNDHartnup disorder
Iminoglycinuria, digenic
3ARL6, BBS3, RP55Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1, modifier of
Retinitis pigmentosa 55
3GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1CLeukodystrophy, hypomyelinating, 2
Spastic paraplegia, 44
Lymphedema, hereditary, IC
3PEX26Adrenoleukodystrophy, neonatal
Refsum disease, infantile
Zellweger syndrome
3ANO5, TMEM16E, GDD1, LGMD2LGnathodiaphyseal dysplasia
Muscular dystrophy, limb-girdle, type 2L
Miyoshi muscular dystrophy 3
3CPS1Carbamoylphosphate synthetase I deficiency
Pulmonary hypertension, familial persistent, of the newborn
Venoocclusive disease after bone marrow transplantation
3SOX9, CMD1, SRA1Campomelic dysplasia with autosomal sex reversal
Acampomelic campomelic dysplasia
Campomelic dysplasia
3WDR19, ATD5, NPHP13, CED4Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
3NPHP3, NPH3, RHPD, MKS7Nephronophthisis 3
Renal-hepatic-pancreatic dysplasia
Meckel syndrome 7
3LEMD3, MAN1Osteopoikilosis
Buschke-Ollendorff syndrome
Melorheostosis with osteopoikilosis
3POMT2, MDDGA2, MDDGB2, MDDGC2Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 2
Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 2
Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 2
3POMT1, MDDGA1, MDDGB1, MDDGC1Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 1
Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 1
Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 1
3NF2Neurofibromatosis, type 2
Meningioma, NF2-related, somatic
3IRF6, VWS, LPS, PIT, PPS, OFC6van der Woude syndrome
Popliteal pterygium syndrome
Orofacial cleft 6
3NPHP1, NPH1, SLSN1, JBTS4Nephronophthisis 1, juvenile
Senior-Loken syndrome-1
Joubert syndrome 4
3ABCC11, MRP8, EWWD, WWEarwax, wet/dry
Axillary odor, variation in
Colostrum secretion, variation in
3MPOMyeloperoxidase deficiency
Alzheimer disease, susceptibility to
Lung cancer, protection against, in smokers
3HEXA, TSDTay-Sachs disease
GM2-gangliosidosis, several forms
Hex A pseudodeficiency
3POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 3
Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 3
Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 3
3FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 5
Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation, type B, 5
Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 5
3GDF3, KFS3, MCOPCB6, MCOP7Klippel-Feil syndrome 3, autosomal dominant
Microphthalmia with coloboma 6
Microphthalmia, isolated 7
3NLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1Cold-induced autoinflammatory syndrome, familial
Muckle-Wells syndrome
CINCA syndrome
3ALS2, ALSJ, PLSJ, IAHSPAmyotrophic lateral sclerosis, juvenile
Primary lateral sclerosis, juvenile
Spastic paralysis, infantile onset ascending
3WNT10A, SSPS, STHAG4, OODDOdontoonychodermal dysplasia
Schopf-Schulz-Passarge syndrome
Tooth agenesis, selective, 4
3BSCL2, SPG17, HMN5Lipodystrophy, congenital generalized, type 2
Silver spastic paraplegia syndrome
Neuropathy, distal hereditary motor, type V
3KIF1B, CMT2A, CMT2A1, NBLST1Charcot-Marie-Tooth disease, type 2A1
Neuroblastoma, susceptibility to, 1
3LDB3, ZASP, CYPHER, KIAA01613, CMD1C, LVNC3Myopathy, myofibrillar, ZASP-related
Cardiomyopathy, dilated 1C
Left ventricular noncompaction 3, with or without dilated cardiomyopathy
3FOXL2, BPES, BPES1, PFRK, POF3Blepharophimosis, epicanthus inversus, and ptosis, type 1
Blepharophimosis, epicanthus inversus, and ptosis, type 2
Premature ovarian failure 3
3AIP, XAP2, ARA9Pituitary adenoma, growth hormone-secreting
Pituitary adenoma, prolactin-secreting
Pituitary adenoma, ACTH-secreting
3CDH23, USH1DUsher syndrome, type 1D
Deafness, autosomal recessive 12
Usher syndrome, type 1D/F digenic
3PCDH15, DFNB23, USH1FUsher syndrome, type 1F
Deafness, autosomal recessive 23
Usher syndrome, type 1D/F digenic
3FGF23, ADHR, HPDR2, PHPTCHypophosphatemic rickets, autosomal dominant
Osteomalacia, tumor-induced
Tumoral calcinosis, hyperphosphatemic, familial
3OPA1, NTG, NPGOptic atrophy 1
Glaucoma, normal tension, susceptibility to
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
3TSC1, LAMTuberous sclerosis-1
Focal cortical dysplasia, Taylor balloon cell type
3DYT1, TOR1ADystonia-1, torsion
Dystonia, early-onset atypical, with myoclonic features
Dystonia-1, modifier of
3CFC1, CRYPTIC, HTX2, DTGA2Heterotaxy, visceral, 2, autosomal
Double-outlet right ventricle
Transposition of the great arteries, dextro-looped 2
3SH2B3, LNKMyelofibrosis, somatic
Thrombocythemia, somatic
Erythrocytosis, somatic
3VSX1, RINX, PPCD, PPD, KTCN1, CAASDSKeratoconus 1
Corneal dystrophy, hereditary polymorphous posterior
Craniofacial anomalies and anterior segment dysgenesis syndrome
3CYLD, CDMT, EAC, MFT1, KIAA0849, BRSSCylindromatosis, familial
Brooke-Spiegler syndrome
Trichoepithelioma, multiple familial, 1
3MUTYH, MYHAdenomas, multiple colorectal
Gastric cancer, somatic
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
3LRAT, LCA14Retinal dystrophy, early-onset severe
Leber congenital amaurosis 14
Retinitis pigmentosa, juvenile
3RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8BMitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8B MNGIE type
3CD209, CDSIGNDengue fever, protection against
HIV type 1, susceptibility to
Mycobacterium tuberculosis, susceptibility to
3FBLN5, ARMD3Cutis laxa, autosomal recessive
Cutis laxa, autosomal dominant
Macular degeneration, age-related, 3
3CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1Cortical dysplasia-focal epilepsy syndrome
Autism susceptibility 15
Pitt-Hopkins like syndrome 1
3MLH3, HNPCC7Colorectal cancer, somatic
Colon cancer, hereditary nonpolyposis, type 7
Endometrial cancer
3AIPL1, LCA4Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile
Cone-rod dystrophy
3HLA-DQB1, CELIAC1Creutzfeldt-Jakob disease, variant, resistance to
Multiple sclerosis, susceptibility to
Celiac disease, susceptibility to
3CCM1, CAM, KRIT1Cerebral cavernous malformations-1
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
Cavernous malformations of CNS and retina
3CRB1, RP12, LCA8Retinitis pigmentosa-12, autosomal recessive
Leber congenital amaurosis 8
Pigmented paravenous chorioretinal atrophy
3TTID, MYOTMuscular dystrophy, limb-girdle, type 1A
Myopathy, spheroid body
3EDAR, DL, ED3, EDA3, HRM1Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal recessive
Hair morphology 1, hair thickness
3SEPT9, MSF, MSF1, NAPBLeukemia, acute myeloid, therapy-related
Ovarian carcinoma
Amyotrophy, hereditary neuralgic
3PMX2B, NBPHOX, PHOX2B, NBLST2Central hypoventilation syndrome, congenital, with or without Hirschsprung disease
Neuroblastoma, susceptibility to, 2
Neuroblastoma with Hirschsprung disease
Inclusion body myopathy, autosomal recessive
Nonaka myopathy
3RECQL4, RTS, RECQ4Rothmund-Thomson syndrome
Baller-Gerold syndrome
3RAD54L, HR54, HRAD54Breast cancer, invasive ductal
Lymphoma, non-Hodgkin, somatic
Adenocarcinoma, colonic, somatic
3TNFRSF11A, RANK, ODFR, OFE, OPTB7Osteolysis, familial expansile
Paget disease of bone
Osteopetrosis, autosomal recessive 7
3DYNC2H1, DNCH2, DHC2, ATD3Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome, type III
Short rib-polydactyly syndrome, type II, digenic
3BFSP2, CP49, CP47Cataract, juvenile-onset
Cataract, congenital
Cataract, autosomal dominant, multiple types 1
3TLR5, TIL3, SLEB1Legionaire disease, susceptibility to
Systemic lupus erythematosus, resistance to
Systemic lupus erythematosus, susceptibility to, 1
3TLR4, ARMD10Endotoxin hyporesponsiveness
Macular degeneration, age-related, 10
Colorectal cancer, susceptibility to
3DYSF, LGMD2B, MMD1Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
Miyoshi muscular dystrophy 1
3GDF1, DTGA3, DORVDouble-outlet right ventricle
Tetralogy of Fallot
Transposition of great arteries, dextro-looped 3
3BUB1B, BUBR1Colorectal cancer
Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
3GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2CFebrile seizures, familial, 4
Usher syndrome, type 2C
Usher syndrome, type 2, GPR98/PDZD7 digenic
3PRKAG2, WPWS, CMH6Wolff-Parkinson-White syndrome
Cardiomyopathy, familial hypertrophic 6
Glycogen storage disease of heart, lethal congenital
3SLC22A1L, BWSCR1A, IMPT1Breast cancer, somatic
Rhabdomyosarcoma, somatic
Lung cancer, somatic
3CISH, BACTS2Tuberculosis, susceptibility to
Malaria, susceptibility to
Bacteremia, susceptibility to
3OPTN, GLC1E, FIP2, HYPL, NRP, ALS12Glaucoma 1, open angle, E
Glaucoma, normal tension, susceptibility to
Amytrophic lateral sclerosis 12
3SDHC, PGL3Paragangliomas 3
Paraganglioma and gastric stromal sarcoma
Gastrointestinal stromal tumor
3DNM2, CMTDIB, CMTDI1, CMT2MCharcot-Marie-Tooth disease, dominant intermediate B
Myopathy, centronuclear
Charcot-Marie-Tooth disease, axonal, type 2M
3CTSC, CPPI, PALS, PLS, HMS, JPDPapillon-Lefevre syndrome
Haim-Munk syndrome
Periodontitis, juvenile
3TERC, TRC3, TR, DKCA1Dyskeratosis congenita, autosomal dominant 1
Aplastic anemia
Pulmonary fibrosis, idiopathic, susceptibility to
3HR, AU, MUHH1Alopecia universalis
Atrichia with papular lesions
Hypotrichosis, hereditary, Marie Unna type, 1
3KCNQ2, EBN1, EIEE7, BFNS1Seizures, benign neonatal, 1
Epileptic encephalopathy, early infantile, 7
3SOX10, WS4, WS4C, PCWHWaardenburg syndrome, type 4C
Waardenburg syndrome, type 2E, with or without neurologic involvement
PCWH syndrome
3PEX1, ZWS1Zellweger syndrome-1
Adrenoleukodystrophy, neonatal
Refsum disease, infantile
3MATN3, EDM5, HOA, OS2Epiphyseal dysplasia, multiple, 5
Osteoarthritis susceptibility 2
Spondyloepimetaphyseal dysplasia
3TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCRConotruncal anomaly face syndrome
DiGeorge syndrome
Velocardiofacial syndrome
3CACNB4, EJM6, EA5, EIG9Epilepsy, juvenile myoclonic, susceptibility to, 6
Epilepsy, idiopathic generalized, susceptibility to, 9
Episodic ataxia, type 5
3JAG1, AGS, AHDAlagille syndrome
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
3LIG4LIG4 syndrome
Multiple myeloma, resistance to
Severe combined immunodeficiency with sensitivity to ionizing radiation
3HESX1, RPX, CPHD5Septooptic dysplasia
Pituitary hormone deficiency, combined, 5
Growth hormone deficiency with pituitary anomalies
3CASP10, MCH4, ALPS2Autoimmune lymphoproliferative syndrome, type II
Non-Hodgkin lymphoma, somatic
Gastric cancer, somatic
3PLA2G7, PAFAH, PAFADPlatelet-activating factor acetylhydrolase deficiency
Asthma, susceptibility to
Atopy, susceptibility to
3HPGD, PGDH1Cranioosteoarthropathy
Hypertrophic osteoarthropathy, primary, autosomal recessive
Digital clubbing, isolated congenital
3MYOC, TIGR, GLC1A, JOAG, GPOAGlaucoma 1A, primary open angle, juvenile-onset
Glaucoma 1A, primary open angle, recessive
Glaucoma, early-onset, digenic
3TWIST1, ACS3, SCS, CRS1Saethre-Chotzen syndrome
Saethre-Chotzen syndrome with eyelid anomalies
Craniosynostosis, type 1
3RAPSN, CMS1D, CMS1EMyasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
Fetal akinesia deformation sequence
3CX3CR1, GPR13, V28Rapid progression to AIDS from HIV1 infection
Coronary artery disease, resistance to
Macular degeneration, age-related, 12
3PTCH1, NBCCS, BCNS, HPE7Basal cell nevus syndrome
Basal cell carcinoma, somatic
3BMPR1A, ACVRLK3, ALK3Polyposis, juvenile intestinal
Polyposis syndrome, hereditary mixed, 2
Juvenile polyposis syndrome, infantile form
3KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9Spastic paraplegia 30, autosomal recessive
Neuropathy, hereditary sensory, type IIC
Mental retardation, autosomal dominant 9
3GDF6, MCOP4, KFS1, MCOPCB6Klippel-Feil syndrome 1, autosomal dominant
Microphthalmia, isolated 4
Microphthalmia with coloboma 6, digenic
3DCTN1, HMN7BNeuropathy, distal hereditary motor, type VIIB
Amyotrophic lateral sclerosis, susceptibility to
Perry syndrome
3MADH4, DPC4, SMAD4, JIPPancreatic cancer
Polyposis, juvenile intestinal
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
3MYO6, DFNA22, DFNB37Deafness, autosomal dominant 22
Deafness, autosomal recessive 37
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
3GDNF, HSCR3Central hypoventilation syndrome
Pheochromocytoma, modifier of
Hirschsprung disease, susceptibility to, 3
3LAMA3, LOCSEpidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
Laryngoonychocutaneous syndrome
3BMPR2, PPH1Pulmonary hypertension, familial primary
Pulmonary venoocclusive disease
Pulmonary hypertension, primary, fenfluramine-associated
3SCNN1G, PHA1, BESC3Liddle syndrome
Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 3
3SCNN1B, BESC1Liddle syndrome
Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 1
3IPF1, MODY4Pancreatic agenesis
MODY, type IV
Diabetes mellitus, type II, susceptibility to
3PTPN22, PEP, PTPN8, LYPDiabetes, type 1, susceptibility to
Rheumatoid arthritis, susceptibility to
Systemic lupus erythematosus susceptibility to
3KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9Long QT syndrome-7
Short QT syndrome-3
Atrial fibrillation, familial, 9
3MSH6, GTBP, HNPCC5Colorectal cancer, hereditary nonpolyposis, type 5
Endometrial cancer, familial
Mismatch repair cancer syndrome
3MEF2C, C5DELq14.3; DEL5q14.3Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Chromosome 5q14.3 deletion syndrome
3NKX2-1, TITF1, NKX2A, TTF1Goiter, familial, due to TTF-1 defect
Chorea, hereditary benign
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
3KLF1, EKLF, INLU, HBFQTL6Blood group--Lutheran inhibitor
Hereditary persistence of fetal hemoglobin
Anemia, dyserythropoietic congenital, type IV
3CLCN2, EGMA, ECA2, EGI11, EJM8Epilepsy, juvenile myoclonic, susceptibility to, 8
Epilepsy, juvenile absence, susceptibility to, 2
Epilepsy, idiopathic generalized, susceptibility to, 11
3STAT1, CANDF7Mycobacterial infection, atypical, familial disseminated
Mycobacterial and viral infections, susceptibility to, autosomal recessive
Candidiasis, familial, 7
3GCNT2Blood group, Ii
Adult i phenotype with congenital cataract
Adult i phenotype without cataract
3SCN1B, GEFSP1Generalized epilepsy with febrile seizures plus, type 1
Brugada syndrome 5
Cardiac conduction defect, nonspecific
3ABCA1, ABC1, HDLDT1, TGDTangier disease
HDL deficiency, type 2
Coronary artery disease in familial hypercholesterolemia, protection against
3OTX2, MCOPS5, CPHD6Microphthalmia, syndromic 5
Pituitary hormone deficiency, combined, 6
Retinal dystrophy, early-onset, and pituitary dysfunction
3LBR, PHAPelger-Huet anomaly
HEM skeletal dysplasia
Reynolds syndrome
3SHOXYShort stature, idiopathic familial
Leri-Weill dyschondrosteosis
Langer mesomelic dysplasia
3SHOX, GCFX, SS, PHOGShort stature, idiopathic familial
Leri-Weill dyschondrosteosis
Langer mesomelic dysplasia
3FMR1, FRAXA, POF1Fragile X syndrome
Fragile X tremor/ataxia syndrome
Premature ovarian failure 1
3G6PD, G6PD1G6PD deficiency
Hemolytic anemia due to G6PD deficiency
3F9, HEMBHemophilia B
Warfarin sensitivity
Thrombophilia, X-linked, due to factor IX defect
3NLGN4, KIAA1260, AUTSX2, ASPGX2Autism susceptibility, X-linked 2
Asperger syndrome susceptibility, X-linked 2
Mental retardation, X-linked
3TAZ, EFE2, BTHS, CMD3A, LVNCXBarth syndrome
Cardiomyopathy, dilated, 3A
Left ventricular noncompaction, X-linked
3DMD, BMD, CMD3BDuchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
3TIMM8A, DFN1, DDP, MTS, DDP1Deafness, X-linked 1, progressive
Mohr-Tranebjaerg syndrome
Jensen syndrome
3HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.2217-beta-hydroxysteroid dehydrogenase X deficiency
Mental retardation, X-linked syndromic 10
Mental retardation, X-linked 17/31, microduplication
3CASK, MICPCH, FGS4, CMGMental retardation and microcephaly with pontine and cerebellar hypoplasia
FG syndrome 4
Mental retardation, with or without nystagmus
3OFD1, CXorf5, SGBS2, JBTS10Oral-facial-digital syndrome 1
Simpson-Golabi-Behmel syndrome, type 2
Joubert syndrome 10
3CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2Night blindness, congenital stationary, X-linked, type 2A
Cone-rod dystrophy, X-linked, 3
Aland Island eye disease
3ATRX, XH2, XNP, SHS, SFM1, MRXHF1Alpha-thalassemia/mental retardation syndrome
Alpha-thalassemia myelodysplasia syndrome, somatic
Mental retardation-hypotonic facies syndrome, X-linked
3ATP7A, MNK, MK, OHS, SMAX3Menkes disease
Occipital horn syndrome
Spinal muscular atrophy, distal, X-linked 3
3MYO7A, USH1B, DFNB2, DFNA11Usher syndrome, type 1B
Deafness, autosomal recessive 2
Deafness, autosomal dominant 11
3IDUA, IDAMucopolysaccharidosis Ih
Mucopolysaccharidosis Is
Mucopolysaccharidosis Ih/s
3DHSDehydrated hereditary stomatocytosis
Pseudohyperkalemia, familial
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
3UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2Hyperuricemic nephropathy, familial juvenile 1
Medullary cystic kidney disease 2
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
3TPM3, NEM1, CFTDNemaline myopathy 1, autosomal dominant
Myopathy, congenital, with fiber-type disproportion
CAP myopathy
3TPM2, TMSB, AMCD1, DA1, DA2B, NEM4Arthrogryposis multiplex congenita, distal, type 1
Nemaline myopathy
Arthrogryposis, distal, type 2B
3TGM1, ICR2, LI1Ichthyosis, lamellar, autosomal recessive
Ichthyosiform erythroderma, congenital
Self-healing collodion baby
3TGFBR1, ALK5, AAT5, LDS2A, LDS1A, MSSELoeys-Dietz syndrome, type 1A
Loeys-Dietz syndrome, type 2A
Multiple self-healing squamous epithelioma, susceptiblity to
3THRB, ERBA2, THR1, PRTHThyroid hormone resistance
Thyroid hormone resistance, autosomal recessive
Thyroid hormone resistance, selective pituitary
3PDGFB, SISMeningioma, SIS-related
Dermatofibrosarcoma protuberans
Giant-cell fibroblastoma
3HRASBladder cancer, somatic
Costello syndrome
Thyroid carcinoma, follicular, somatic
3HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11Renal cysts and diabetes syndrome
Diabetes mellitus, noninsulin-dependent
Renal cell carcinoma
3THBD, THRM, AHUS6Thrombophilia due to thrombomodulin defect
Myocardial infarction, susceptibility to
Hemolytic uremic syndrome, atypical, susceptibility to, 6
3SPTB, SPH2, EL3, HS2Elliptocytosis-3
Spherocytosis, type 2
Anemia, neonatal hemolytic, fatal and near-fatal
3SPTA1, EL2, SPH3, HS3, HPPElliptocytosis-2
Spherocytosis, type 3
3ATP1A2, FHM2, MHP2Migraine, familial hemiplegic, 2
Alternating hemiplegia of childhood
Migraine, familial basilar
3FUT2, SE, B12QTL1Norwalk virus infection, resistance to
Bombay phenotype
Vitamin B12 plasma level QTL1
3RHO, RP4, OPN2, CSNBAD1Retinitis pigmentosa 4, autosomal dominant or recessive
Night blindness, congenital stationery, autosomal dominant 1
Retinitis punctata albescens
3REN, HNFJ2Hyperproreninemia
Renal tubular dysgenesis
Hyperuricemic nephropathy, familial juvenile 2
3RAG2Severe combined immunodeficiency, B cell-negative
Omenn syndrome
Combined cellular and humoral immune defects with granulomas
3TTR, PALBAmyloidosis, hereditary, transthyretin-related
Dystransthyretinemic hyperthyroxinemia
Carpal tunnel syndrome, familial
3ABCB4, PGY3, MDR3Cholestasis, progressive familial intrahepatic 3
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
3SPINK1, PSTI, PCTT, TATI, TCPPancreatitis, hereditary
Fibrocalculous pancreatic diabetes, susceptibility to
Tropical calcific pancreatitis
3PAX4, MODY9, KPDMaturity-onset diabetes of the young, type IX
Diabetes mellitus, type 2
Diabetes mellitus, ketosis-prone
3MET, AUTS9Renal cell carcinoma, papillary, familial and somatic
Hepatocellular carcinoma, childhood type
Autism suseptibility 9
3SNCA, NACP, PARK1, PARK4Parkinson disease 4
Dementia, Lewy body
Parkinson disease 1
3MPL, TPOR, MPLVThrombocytopenia, congenital amegakaryocytic
Thrombycytosis, susceptibility to
Thrombocythemia, essential
3RMRP, RMRPR, CHHCartilage-hair hypoplasia
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia
3MITF, WS2AWaardenburg syndrome, type 2A
Waardenburg syndrome/ocular albinism, digenic
Tietz albinism-deafness syndrome
3ACAN, AGC1, CSPG1, MSK16, SEDKSpondyloepiphyseal dysplasia, Kimberley type
Spondyloepimetaphyseal dysplasia, aggrecan type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
3LTA, TNFBMyocardial infarction, susceptibility to
Psoriatic arthritis, susceptibility to
Leprosy, susceptibility to, 4
3KCNH2, LQT2, HERG, SQT1Long QT syndrome-2
Long QT syndrome-2, acquired, susceptibility to
Short QT syndrome-1
3LIPC, HL, LIPH, HDLCQ12High density lipoprotein cholesterol level QTL 12
Diabetes mellitus, noninsulin-dependent
Hepatic lipase deficiency
3KRT10, EHK, BCIE, BIEEpidermolytic hyperkeratosis
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis with confetti
3IL1RN, MVCD4, DIRAGastric cancer risk after H. pylori infection
Microvascular complications of diabetes 4
Interleukin 1 receptor antagonist deficiency
3ITGB4Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa of hands and feet
3FCGR3A, CD16, IGFR3Lupus erythematosus, systemic, susceptibility
Neutropenia, alloimmune neonatal
Viral infections, recurrent
3MSX1, HOX7, HYD1, OFC5, STHAG1Tooth agenesis, selective, 1, with or without orofacial cleft
Witkop syndrome
Orofacial cleft 5
3RASA1, GAP, CMAVM, PKWSParkes Weber slndrome
Capillary malformation-arteriovenous malformation
Basal cell carcinoma, somatic
3GLRA1, STHEStartle disease/hyperekplexia, autosomal dominant
Startle disease, autosomal recessive
Hyperekplexia and spastic paraparesis
3GABRD, GEFSP5, EIG10, EJM7Generalized epilepsy with febrile seizures plus, type 5, susceptibility to
Epilepsy, idiopathic generalized, 10
Epilepsy, juvenile myoclonic, susceptibility to
3FSHR, ODG1Ovarian dysgenesis 1
Ovarian response to FSH stimulation
Ovarian hyperstimulation syndrome
3FLT3Leukemia, acute myeloid, reduced survival in
Leukemia, acute myeloid
Leukemia, acute lymphoblastic
3FGGDysfibrinogenemia, gamma type
Hypofibrinogenemia, gamma type
Thrombophilia, dysfibrinogenemic
3FGBDysfibrinogenemia, beta type
Afibrinogenemia, congenital
Thrombophilia, dysfibrinogenemic
3TNFRSF6, APT1, FAS, CD95, ALPS1AAutoimmune lymphoproliferative syndrome
Squamous cell carcinoma, burn scar-related, somatic
Autoimmune lymphoproliferative syndrome, type IA
3F13A1, F13AFactor XIIIA deficiency
Myocardial infarction, protection against
Venous thrombosis, protection against
3EGFRNonsmall cell lung cancer, response to tyrosine kinase inhibitor in
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in
Nonsmall cell lung cancer, susceptibility to
3EDNRB, HSCR2, ABCDS, WS4AHirschsprung disease, susceptibility to, 2
ABCD syndrome
Waardenburg syndrome, type 4A
3EDN3, WS4B, HSCR4Waardenburg syndrome, type 4B
Central hypoventilation syndrome, congenital
Hirschsprung disease, susceptibility to, 4
3EGR2, KROX20Neuropathy, congenital hypomyelinating, 1
Charcot-Marie-Tooth disease, type 1D
Dejerine-Sottas disease
3DRD5, DRD1B, DRD1L2Blepharospasm, primary benign
Dystonia, primary cervical
Attention deficit-hyperactivity disorder, susceptibility to
3DRD4Autonomic nervous system dysfunction
Novelty seeking personality
Attention deficit-hyperactivity disorder
3ERCC2, EM9, XPD, COFS2Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
3NQO1, DIA4, NMOR1Benzene toxicity, susceptibility to
Leukemia, post-chemotherapy, susceptibility to
Breast cancer, poor survival after chemotherapy for
3DES, CMD1IMyopathy, desmin-related, cardioskeletal
Cardiomyopathy, dilated, 1I
Scapuloperoneal syndrome, neurogenic, Kaeser type
3IL10, CSIF, GVHDSHIV-1, susceptibility to
Graft-versus-host disease, protection against
Rheumatoid arthritis, progression of
3CRYBB2, CRYB2Cataract, cerulean, type 2
Cataract, sutural, with punctate and cerulean opacities
Cataract, Coppock-like
3CRYAB, CRYA2, CTPP2Myopathy, myofibrillar, alpha-B crystallin-related
Cataract, posterior polar 2
Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
3CRYAA, CRYA1Cataract, zonular central nuclear, autosomal dominant
Cataract, congenital, autosomal recessive
Cataract, autosomal dominant nuclear
3MSX2, CRS2, HOX8Craniosynostosis, type 2
Parietal foramina 1
Parietal foramina with cleidocranial dysplasia
3CYP2A6, CYP2A3, CYP2A, P450C2ACoumarin resistance
Nicotine addiction, protection from
Lung cancer, resistance to
3C4A, C4S, C4ADC4a deficiency
Blood group, Rodgers
Systemic lupus erythematosus, susceptibility to or protection against}
3C3, ARMD9, AHUS5C3 deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 5
Macular degeneration, age-related, 9
3MLH1, COCA2, HNPCC2Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Muir-Torre syndrome
3COL9A3, EDM3, IDDEpiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, with myopathy
Intervertebral disc disease, susceptibility to
3COL9A2, EDM2, STL5Epiphyseal dysplasia, multiple, 2
Intervertebral disc disease, susceptibility to
Stickler syndrome V
3COL6A2Bethlem myopathy
Ullrich congenital muscular dystrophy
Myosclerosis, congenital
3COL6A1, OPLLBethlem myopathy
Ullrich congenital muscular dystrophy
Ossification of the posterior longitudinal spinal ligaments
3CLCN1Myotonia congenita, recessive
Myotonia congenita, dominant
Myotonia levior, recessive
3CPHypoceruloplasminemia, hereditary
Cerebellar ataxia
Hemosiderosis, systemic, due to aceruloplasminemia
3CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1Hypokalemic periodic paralysis, type 1
Malignant hyperthermia susceptibility 5
Thyrotoxic periodic paralysis, susceptibility to, 1
3ADRB2Asthma, nocturnal, susceptibility to
Obesity, susceptibility to
Beta-2-adrenoreceptor agonist, reduced response to
3APOB, FLDB, LDLCQ4Hypobetalipoproteinemia
Hypobetalipoproteinemia, normotriglyceridemic
Hypercholesterolemia, due to ligand-defective apo B
3AGT, SERPINA8Hypertension, essential, susceptibility to
Preeclampsia, susceptibility to
Renal tubular dysgenesis
3APP, AAA, CVAP, AD1Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants
Alzheimer disease 1, familial
Dementia, early-onset progressive, autosomal recessive
3NAGASchindler disease, type I
Kanzaki disease
Schindler disease, type III
Dysalbuminemic hyperthyroxinemia
Dysalbuminemic hyperzincemia
3H19, D11S813E, ASM1, BWS, WT2Beckwith-Wiedemann syndrome
Silver-Russell syndrome
Wilms tumor 2
3ACTA2, ACTSA, AAT6, MYMY5Aortic aneurysm, familial thoracic 6
Multisystemic smooth muscle dysfunction syndrome
Moyamoya disease 5
3CHRNG, ACHRGMyasthenia gravis, neonatal transient
Escobar syndrome
Multiple pterygium syndrome, lethal type
3CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1DMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
3CHRND, ACHRD, SCCMS, CMS2A, FCCMSMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, fast-channel congenital
Multiple pterygium syndrome, lethal type
3CHRNA1, ACHRD, CMS2A, SCCMS, FCCMSMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, fast-channel congenital
Multiple pterygium syndrome, lethal type
2C2C2 deficiency
Macular degeneration, age-related, reduced risk of
2F7Factor VII deficiency
Myocardial infarction, decreased susceptibility to
2CYP21A2, CYP21, CA21HAdrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
2DEL17q11.2; C17DELq11.2Chromosome 17q11.2 deletion syndrome, 1.4Mb
2DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13Chromosome 19p13.13 deletion syndrome
Chromosome 19p13.13 duplication syndrome
2FOXRED1Leigh syndrome due to mitochondrial complex I deficiency
Mitochondrial complex I deficiency
2WDR35, NAOFEN, KIAA1336, CED2Cranioectodermal dysplasia 2
Short rib-polydactyly syndrome, type V
2CEP152, KIAA0912, MCPH4, SCKL5Microcephaly, primary autosomal recessive, 4
Seckel syndrome 5
2URODPorphyria cutanea tarda
Porphyria, hepatoerythropoietic
2LIPA, CESDWolman disease
Cholesteryl ester storage disease
2BMIQ16, DEL16p.11.2, C16DELp11.2Chromosome 16p11.2 deletion syndrome, 220kb
Body mass index QTL16
2CBSHomocystinuria, B6-responsive and nonresponsive types
Thrombosis, hyperhomocysteinemic
2C20orf54, RFT2, BVVLSBrown-Vialetto-Van Laere syndrome
Fazio-Londe disease
2TMEM216, JBTS2, CORS2, MKS2Joubert syndrome 2
Meckel syndrome, type 2
2FGQTL2, BWQTL1Fasting plasma glucose level QTL 2
Birth weight QTL 1
2CYB5R3, DIA1, B5RMethemoglobinemia, type I
Methemoglobinemia, type II
2NEXN, NELIN, CMD1CC, CMH20Cardiomyopathy, dilated, 1CC
Cardiomyopathy, familial hypertrophic, 20
2INPP5E, MORMS, JBTS1, CORS1Mental retardation, truncal obesity, retinal dystrophy, and micropenis
Joubert syndrome 1
2ASXL1, KIAA0978, BOPS, MDSBohring-Opitz syndrome
Myelodysplastic syndrome, somatic
2PDZD7Retinal disease in Usher syndrome type IIA, modifier of
Usher syndrome, typ IIC, GPR98/PDZD7 digenic
2DPYD, DPDDihydropyrimidine dehydrogenase deficiency
5-fluorouracil toxicity
2SLC29A3, ENT3, PHIDHyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism
Pigmented hypertrophic dermatosis with insulin-dependent diabetes
2KNG1, KNGKininogen deficiency
High molecular weight kininogen deficiency
2PAH, PKU1Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
2PROC, PCThrombophilia due to protein C deficiency, autosomal dominant
Thrombophilia due to protein C deficiency, autosomal recessive
2TTC21B, THM1, NPHP12, ATD4Nephronophthisis 12
Asphyxiating thoracic dystrophy 4
2ATP6V0A2, WSS, ARCLCutis laxa, autosomal recessive, type II
Wrinkly skin syndrome
2HEPACAM, MLC2A, MLC2BMegalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
2CELIAC6, AIS5Celiac disease, susceptibility to, 6
Autoimmune disease, susceptibility to, 5
2DOCK8, MRD2Mental retardation, autosomal dominant 2
Hyper-IgE recurrent infection syndrome, autosomal recessive
2SETBP1, KIAA0437, SEBLeukemia, acute T-cell lymphoblastic
Schinzel-Giedion midface retraction syndrome
2G6PC3, UGRP, SCN4Neutropenia, severe congenital 4, autosomal recessive
Darsun syndrome
2AGL, GDEGlycogen storage disease IIIa
Glycogen storage disease IIIb
2F12, HAF, HAE3Factor XII deficiency
Angioedema, hereditary, type III
2CYP11B1, P450C11, FHIAdrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Aldosteronism, glucocorticoid-remediable
2MAT1A, MATA1, SAMS1Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
Methionine adenosyltransferase deficiency, autosomal recessive
2RAXL1, QRX, CORD11, ARMD6Macular degeneration, age-related, 6
Cone-rod dystrophy 11
2B3GALTL; B3GTL, B3GLCTPeters-plus syndrome
2DOK7, C4orf25, CMS1BMyasthenia, limb-girdle, familial
Fetal akinesia deformation sequence
2TRMU, MTO2, TRNT1Deafness, mitochondrial, modifier of
Liver failure, transient infantile
2VANGL1, STBM2Caudal regression syndrome
Neural tube defects
2MKS1, MKS, BBS13Meckel syndrome, type 1
Bardet-Biedl syndrome 13
2SPATA7, HSD3, LCA3Leber congenital amaurosis 3
Retinitis pigmentosa, juvenile, autosomal recessive
2SLC24A4, NCKX4, SHEP6Skin/hair/eye pigmentation 6, blond/brown hair
Skin/hair/eye pigmentation 6, blue/green eyes
2HMBS, PBGD, UPSPorphyria, acute intermittent
Porphyria, acute intermittent, nonerythroid variant
2PKLR, PK1Pyruvate kinase deficiency
Adenosine triphosphate, elevated, of erythrocytes
2HPDTyrosinemia, type III
2SLITRK1, KIAA1910, TTMTourette syndrome
2NDUFAF2, NDUFA12L, MMTN, B17.2LMitochondrial complex I deficiency
Leigh syndrome
2RSPO1, FLJ40906Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
Palmoplantar hyperkeratosis and true hermaphroditism
2CHMP2B, DMT1, VPS2BDementia, familial, nonspecific
Amyotrophic lateral sclerosis, CHMP2B-related
2FIG4, KIAA0274, SAC3, ALS11Charcot-Marie-Tooth disease, type 4J
Amyotrophic lateral sclerosis 11
2ESCO2Roberts syndrome
SC phocomelia syndrome
2DBHDopamine-beta-hydroxylase activity levels, plasma
Dopamine beta-hydroxylase deficiency
2CYP17A1, CYP17, P450C1717-alpha-hydroxylase/17,20-lyase deficiency
17,20-lyase deficiency, isolated
2CENPJ, CPAP, MCPH6, SCKL4Microcephaly, primary autosomal recessive, 6
Seckel syndrome 4
2RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2Martsolf syndrome
Warburg micro syndrome 2
2LPAR6, P2RY5, P2Y5, LAH3, ARWH1Hypotrichosis 8
Woolly hair, autosomal recessive 1, with or without hypotrichosis
2ERMAP, SC, RDBlood group, Scianna system
Blood group, Radin
2ADASevere combined immunodeficiency due to ADA deficiency
Adenosine deaminase deficiency, partial
2FREM1, C9orf154, BNAR, MOTABifid nose with or without anorectal and renal anomalies
Manitoba oculotrichoanal syndrome
2EFHC1, FLJ10466, EJM1, JAE, EJA1Myoclonic epilepsy, juvenile, susceptibility to, 1
Epilepsy, juvenile absence, susceptibility to, 1
2TSEN54, SEN54, PCH2A, PCH4Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 4
2MYH14, KIAA2034, DFNA4, PNMHHDeafness, autosomal dominant 4
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
2VKORC1, VKOR, VKCFD2, FLJ00289Vitamin K-dependent clotting factors, combined deficiency of, 2
Warfarin resistance
2MFN2, KIAA0214, CMT2A2Charcot-Marie-Tooth disease, type 2A2
Hereditary motor and sensory neuropathy VI
2SETX, SCAR1, AOA2, ALS4Ataxia-ocular apraxia-2
Amyotrophic lateral sclerosis 4, juvenile
2SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4Spinocerebellar ataxia, autosomal recessive 8
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
2USH2A, RP39Usher syndrome, type 2A
Retinitis pigmentosa 39
2SLC36A2, PAT2Iminoglycinuria, digenic
2KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3BFibrosis of extraocular muscles, congenital, 1
Fibrosis of extraocular muscles, congenital, 3B
2NEU1, NEU, SIAL1Sialidosis, type I
Sialidosis, type II
2KRT74, K6IRS4, KRT6IRS4, HTSS2Woolly hair, autosomal dominant
Hypotrichosis simplex of the scalp 2
2IRGM, LRG47, IFI1, IBD19Mycobacterium tuberculosis, protection against
Inflammatory bowel disease 19
2SH3TC2, KIAA1985, MNMNCharcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
2EXT1Exostoses, multiple, type 1
2ASPN, PLAP1, OS3Osteoarthritis susceptibility 3
Lumbar disc degeneration
2TTC8, BBS8, RP51Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
2MEFV, MEF, FMFFamilial Mediterranean fever, AR
Familial Mediterranean fever, AD
2ANTXR2, CMG2, JHF, ISHFibromatosis, juvenile hyaline
Hyalinosis, infantile systemic
2HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2ANeuropathy, distal hereditary motor, type IIA
Charcot-Marie-Tooth disease, axonal, type 2L
2WHRN, CIP98, KIAA1526, DFNB31, USH2DDeafness, autosomal recessive 31
Usher syndrome, type 2D
2CACNA1H, EIG6, ECA6Epilepsy, idiopathic generalized, susceptibility to, 6
Epilepsy, childhood absence, susceptibility to, 6
2RCBTB1, CLLD7, GLPBeta-glycopyranoside tasting
Alcohol dependence, susceptibility to
2GNPTAB, GNPTAMucolipidosis III alpha/beta
Mucolipidosis II alpha/beta
2CLN8, EPMRCeroid lipofuscinosis, neuronal, 8
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
2ABCA12, ICR2B, LI2Ichthyosis, lamellar 2
Ichthyosis, harlequin
2PHF11, NYREN34IgE levels QTL
2PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1Hypercholesterolemia, familial, 3
Low density lipoprotein cholesterol level QTL 1
2ITGA2B, GP2B, CD41B, GT, BDPLT2Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune, BAK antigen related
Homocysteine, total plasma, elevated
2NPC1, NPCNiemann-Pick disease, type C1
Niemann-Pick disease, type D
2SMPD1, NPDNiemann-Pick disease, type A
Niemann-Pick disease, type B
2IL23R, IBD17Inflammatory bowel disease 17, protection against
Psoriasis, protection against
2MGR6, FHM3Migraine, familial hemiplegic
Migraine with or without aura, susceptibility to
2TPH2, NTPH, ADHD7Unipolar depression, susceptibility to
Attention deficit-hyperactivity disorder, susceptibility to, 7
2DYM, FLJ90130, DMC, SMCDyggve-Melchior-Clausen disease
Smith-McCort dysplasia
2LIPH, LAH2, ARWH2Hypotrichosis, localized, autosomal recessive 2
Woolly hair, autosomal recessive 2 with or without hypotrichosis
2SALL4, HSAL4Duane-radial ray syndrome
IVIC syndrome
2GPR51, GABBR2Nicotine dependence, susceptibility to
Nicotine dependence, protection against
2SEMA4A, SEMB, RP35, CORD10Retinitis pigmentosa 35
Cone-rod dystrophy 10
2IRF5, IBD14, SLEB10Inflammatory bowel disease 14
Systemic lupus erythematosus, susceptibility to, 10
2NPHP4, SLSN4Nephronophthisis 4
Senior-Loken syndrome 4
2CRELD1, AVSD2Atrioventricular septal defect, susceptibility to, 2
Atrioventricular septal defect, partial, with heterotaxy syndrome
2DTNBP1, HPS7Schizophrenia
Hermansky-Pudlak syndrome 7
2IMPG2, IPM200, RP56Retinitis pigmentosa 56
Maculopathy, IMPG2-related
2PROK2, PK2, BV8, KAL4Kallmann syndrome 4
Hypogonadism, hypogonadotropic
2CABC1, COQ8, ADCK3, SCAR9, ARCA2Coenzyme Q10 deficiency
Spinocerebellar ataxia, autosomal recessive 9
2LCATNorum disease
Fish-eye disease
2LDLR, FHC, FH, LDLCQ2Hypercholesterolemia, familial
LDL cholesterol level QTL2
2IRAK4, REN64, IPD1IRAK4 deficiency
Invasive pneumococcal disease, recurrent isolated, 1
2C1NH, HAE1, HAE2, SERPING1Angioedema, hereditary, types I and II
Complement component 4, partial deficiency of
2GCLC, GLCLCHemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Myocardial infarction, susceptibility to
2FXN, FRDA, FARR, X25Friedreich ataxia
Friedreich ataxia with retained reflexes
2PRODH, PRODH2, SCZD4Hyperprolinemia, type I
Schizophrenia, susceptibility to, 4
2CLN6, CLN4ACeroid lipofuscinosis, neuronal, 6
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset
2TMC1, DFNB7, DFNB11, DFNA36Deafness, autosomal recessive 7
Deafness, autosomal dominant 36
2EIF2B4Leukoencephaly with vanishing white matter
2EDARADD, ED3, EDA3Ectodermal dysplasia, anhidrotic, autosomal recessive
Ectodermal dysplasia, anhidrotic, autosomal dominant
2ENAM, AIH2, AI1CAmelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
2OPA3, MGA33-methylglutaconic aciduria, type III
Optic atrophy 3 with cataract
2SLC25A19, DNC, MUP1, MCPHAMicrocephaly, Amish type
Striatal necrosis, bilateral, and progressive polyneuropathy
2ZMPSTE24, FACE1, STE24, MADBMandibuloacral dysplasia with type B lipodystrophy
Restrictive dermopathy, lethal
2EIF2B2Leukoencephalopathy with vanishing white matter
2ATL1, SPG3A, HSN1DSpastic paraplegia-3A
Neuropathy, hereditary sensory, type ID
2BSNDBartter syndrome, type 4a
Sensorineural deafness with mild renal dysfunction
2CLRN1, USH3A, USH3, RP61Usher syndrome, type 3
Retinitis pigmentosa 61
2APOA5Hypertriglyceridemia, susceptibility to
Hyperchylomicronemia, late-onset
2ESPNDeafness, autosomal recessive 36
Deafness, neurosensory, without vestibular involvement, autosomal dominant
2APTX, AOA, AOA1Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Coenzyme Q10 deficiency
2CLEC7A, CLECSF12, DECTIN1, CANDF4Candidiasis, familial, 4, autosomal dominant
Aspergillosis, susceptibility to
2DICER1, HERNA, KIAA0928, MNG1Pleuropulmonary blastoma
Goiter, multinodular 1, without Sertoli-Leydig cell tumors
2SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15Chromosome 22q13.3 deletion syndrome
Schizophrenia 15
2SEPN1, SELN, RSMD1, CFTDMuscular dystrophy, rigid spine, 1
Myopathy, congenital, with fiber-type disproportion
2PANK2, NBIA1, PKAN, HARPNeurodegeneration with brain iron accumulation 1
HARP syndrome
2SLC19A3Basal ganglia disease, biotin-responsive
Encephalopathy, thiamine-responsive
2SLC2A9, GLUT9, UAQTL2Uric acid concentration, serum, QTL 2
Hypouricemia, renal, 2
2C10orf2, TWINKLE, PEO1, PEOA3, IOSCA, MTDPS7Progressive external ophthalmoplegia, autosomal dominant, 3
Mitochondrial DNA depletion syndrome 7 hepatocerebral type
2DCLRE1C, ARTEMIS, SCIDASevere combined immunodeficiency, Athabascan type
Omenn syndrome
2BRIP1, BACH1, FANCJBreast cancer, early-onset
Fanconi anemia, complementation group J
2HERC2, SHEP1Skin/hair/eye pigmentation 1, blue/nonblue eyes
Skin/hair/eye pigmentation 1, blond/brown hair
2SOST, VBCHSclerosteosis
Van Buchem disease
2PRX, CMT4FDejerine-Sottas disease, autosomal recessive
Charcot-Marie-Tooth disease, type 4F
2VAPB, VAPC, ALS8Amyotrophic lateral sclerosis 8
Spinal muscular atrophy, late-onset, Finkel type
2SLC26A4, PDS, DFNB4, EVA, TDH2BPendred syndrome
Enlarged vestibular aqueduct
2SLC6A20, XT3Hyperglycinuria
Iminoglycinuria, digenic
2RETN, RSTN, FIZZ3Diabetes mellitus, noninsulin-dependent, susceptibility to
Hypertension, insulin resistance-related, susceptibility to
2ELOVL4, ADMD, STGD2, STGD3Stargardt disease 3
Macular dystrophy, autosomal dominant, chromosome 6-linked
2TMPRSS3, ECHOS1, DFNB8, DFNB10Deafness, autosomal recessive 8, childhood onset
Deafness, autosomal recessive 10, congenital
2ABCG8, GBD4Sitosterolemia
Gallbladder disease 4
2RPGRIP1, LCA6, CORD13Leber congenital amaurosis 6
Cone-rod dystrophy 13
2DHH, SRXY7, GDXYM46XY partial gonadal dysgenesis, with minifascicular neuropathy
46XY sex reversal 7
2ALX4, PFM2, FPP, FND2Parietal foramina 2
Frontonasal dysplasia 2
2IL21RLymphoma, diffuse large B-cell
IgE, elevated level of
2CFHR3, FHR3, HLF4, CFHL3Macular degeneration, age-related, reduced risk of
Hemolytic uremic syndrome, atypical, susceptibility to
2USH1C, DFNB18Usher syndrome, type 1C
Deafness, autosomal recessive 18
2WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type II
2DISC1, SCZD9Schizophrenia, susceptibility to
Schizoaffective disorder, susceptibility to
2HCN4, SSS2Sick sinus syndrome 2
Brugada syndrome 8
2ANKH, HANK, ANK, CMDJ, CCAL2, CPPDDCraniometaphyseal dysplasia
Chondrocalcinosis 2
2CNGB3, ACHM3, ACHM1Achromatopsia-3
Macular degeneration, juvenile
2TARDBP, TDP43, ALS10Amyotrophic lateral sclerosis 10, with or without FTD
Frontotemporal lobar degeneration, TARDBP-related
2SPINK5, LEKTINetherton syndrome
2TBCE, KCS, KCS1, HRDKenny-Caffey syndrome-1
Hypoparathyroidism-retardation-dysmorphism syndrome
2TNFRSF13B, TACI, CVID2Immunoglobulin A deficiency 2
Immunodeficiency, common variable, 2
2MKKS, HMCS, KMS, MKS, BBS6McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
2TBX21, TBETAsthma, aspirin-induced, susceptibility to
Asthma and nasal polyps
2EVCEllis-van Creveld syndrome
Weyers acrodental dysostosis
2EIG7, EJM2Epilepsy, idiopathic generalized, susceptibility to, 7
Epilepsy, juvenile myoclonic
2KL, KLOTHOCoronary artery disease, susceptibility to
Tumoral calcinosis, hyperphosphatemic
2SYCP3, SCP3, COR1, SPGF4Spermatogenic failure 4
Pregnancy loss, susceptibility to
2FCGR2B, CD32Systemic lupus erythematosus, susceptibility to
Malaria, resistance to
2PDGFRL, PDGRL, PRLTSHepatocellular cancer
Colorectal cancer
2FZD4, EVR1Exudative vitreoretinopathy
Retinopathy of prematurity
2AMACR, CBAS4, AMACRDAlpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
2TCAP, LGMD2G, CMD1NMuscular dystrophy, limb-girdle, type 2G
Cardiomyopathy, dilated, 1N
2NR2E3, PNR, ESCS, RP37Enhanced S-cone syndrome
Retinitis pigmentosa 37
2SP110, IFI41, IFI75, VODIHepatic venoocclusive disease with immunodeficiency
Mycobacterium tuberculosis, susceptibility to
2ACSL6, FACL6, ACS2Myelodysplastic syndrome
Myelogenous leukemia, acute
2TRPS1Trichorhinophalangeal syndrome, type I
Trichorhinophalangeal syndrome, type III
2SLC17A5, SIASD, SLDSalla disease
Sialic acid storage disorder, infantile
2TINF2, TIN2, DKCA3Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome
2CST3, ARMD11Cerebral amyloid angiopathy
Macular degeneration, age-related, 11
2RAD54BLymphoma, non-Hodgkin
Colon adenocarcinoma
2LRP4, MEGF7, CLSS, SOST2Cenani-Lenz syndactyly syndrome
Sclerosteosis 2
2STAT5BLeukemia, acute promyelocytic, STAT5B/RARA type
Growth hormone insensitivity with immunodeficiency
2CRLF1, CISSCold-induced sweating syndrome
Crisponi syndrome
2SLC34A2Pulmonary alveolar microlithiasis
Testicular microlithiasis
2KISS1R, GPR54Hypogonadotropic hypogonadism
Precocious puberty, central
2DLEC1, DLC1Lung cancer
Esophageal cancer
2AXIN2Colorectal cancer
Oligodontia-colorectal cancer syndrome
2EIF2B5, LVWM, CACH, CLELeukoencephalopathy with vanishing white matter
2RP1, ORP1Retinitis pigmentosa 1
Hypertriglyceridemia, susceptibility to
2GPHN, GPH, KIAA1385, GEPHMolybdenum cofactor deficiency, type C
2HABP2, PHBP, HGFAL, FSAPCarotid stenosis, susceptibility to
Venous thromboembolism, susceptibility to
2ITM2B, BRI, ABRI, FBDDementia, familial British
Dementia, familial Danish
2BAG3Myopathy, myofibrillar, BAG3-related
Cardiomyopathy, dilated, 1HH
2SLC25A13, CTLN2Citrullinemia, adult-onset type II
Citrullinemia, type II, neonatal-onset
2AXIN1, AXINHepatocellular carcinoma, somatic
Caudal duplication anomaly
2KCNE2, MIRP1, LQT6, ATFB4Long QT syndrome-6
Atrial fibrillation, familial, 4
2APOL1, FSGS4Glomerulosclerosis, focal segmental, 4, susceptibility to
End-stage renal disease, nondiabetic, susceptibility to
2SIX3, HPE2Holoprosencephaly-2
2CYP7B1, CBAS3, SPG5ABile acid synthesis defect, congenital, 3
Spastic paraplegia-5A
2ZFPM2, FOG2, DIH3Tetralogy of Fallot
Diaphragmatic hernia 3
2OTOF, DFNB9, NSRD9, AUNB1Deafness, autosomal recessive 9
Auditory neuropathy, autosomal recessive, 1
Basal cell carcinoma, somatic
2COX15Cardiomyopathy, hypertrophic, early-onset fatal
Leigh syndrome due to cytochrome c oxidase deficiency
2LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 6
Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 6
2EYA4, DFNA10, CMD1JDeafness, autosomal dominant 10
Cardiomyopathy, dilated, 1J
Mullerian aplasia and hyperandrogenism
2WISP3, PPAC, PPDArthropathy, progressive pseudorheumatoid, of childhood
Spondyloepiphyseal dysplasia tarda with progressive arthropathy
2PDE8B, PPNAD3, ADSDPigmented nodular adrenocortical disease, primary, 3
Striatal degeneration, autosomal dominant
2GLE1, GLE1L, LCCS, LCCS1Lethal congenital contracture syndrome 1
Arthrogryposis, lethal, with anterior horn cell disease
2BMPR1B, ALK6Brachydactyly, type A2
Chrondrodysplasia, acromesomelic, with genital anomalies
2ABCC6, ARA, ABC34, MLP1, PXEPseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
2KCNJ13, SVD, LCA16Snowflake vitreoretinal degeneration
Leber congenital amaurosis 16
2ABCB11, BSEP, SPGP, PFIC2, BRIC2Cholestasis, progressive familial intrahepatic 2
Cholestasis, benign recurrent intrahepatic, 2
2B3GALT3, GLCT3, PBlood group, P system
Urinary tract infection, susceptibility to
2TLR2, TIL4Leprosy, susceptibility to
Colorectal cancer, susceptibility to
2PICALM, CALM, CLTH, LAPLeukemia, acute myeloid
Leukemia, acute T-cell lymphoblastic
2PEX10, NALDZellweger syndrome
Adrenoleukodystrophy, neonatal
2RAD51C, FANCO, BROVCA3Fanconi anemia, complementation group 0
Breast-ovarian cancer, familial, susceptibility to, 3
2CLCN7, CLC7, OPTA2, OPTB4Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal dominant 2
2EP300, RSTS2Colorectal cancer
Rubinstein-Taybi syndrome 2
2NDUFS4, AQDQLeigh syndrome
Mitochondrial complex I deficiency
2MAD1L1, TXBP181Lymphoma, somatic
Prostate cancer, somatic
2SLC37A4, G6PT1Glycogen storage disease Ib
Glycogen storage disease Ic
2NBS1, NBSNijmegen breakage syndrome
Leukemia, acute lymphoblastic
2TUBB3, TUBB4, CFEOM3A, CDCBMFibrosis of extraocular muscles, congenital, 3A
Cortical dysplasia, complex, with other brain malformations
2CDSN, HTSS1, PSSHypotrichosis simplex of scalp 1
Peeling skin syndrome
2TECTA, DFNA8, DFNA12, DFNB21Deafness, autosomal dominant 8/12
Deafness, autosomal recessive 21
2MTRRHomocystinuria-megaloblastic anemia, cbl E type
Neural tube defects, folate-sensitive, susceptibility to
2DJ1, PARK7Parkinson disease 7, autosomal recessive early-onset
Amyotrophic lateral sclerosis-Parkinsonism/dementia complex 2
2HSF4, CTMCataract, Marner type
Cataract, lamellar
2AF10Leukemia, acute myeloid
Leukemia, acute T-cell lymphoblastic
2FOXC2, FKHL14, MFH1Lymphedema-distichiasis syndrome
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
2ATP8B1, FIC1, BRIC, PFIC1Cholestasis, progressive familial intrahepatic 1
Cholestasis, benign recurrent intrahepatic
2ROR2, BDB1, BDB, NTRKR2Brachydactyly, type B1
Robinow syndrome, autosomal recessive
2AGRP, ART, AGRTObesity, late-onset
Leanness, inherited
2TRIM32, HT2A, LGMD2H, BBS11Muscular dystrophy, limb-girdle, type 2H
Bardet-Biedl syndrome 11
2TULP1, RP14, LCA15Retinitis pigmentosa 14
Leber congenital amaurosis 15
2CD151, PETA3, SFA1, MER2Nephropathy with pretibial epidermolysis bullosa and deafness
Blood group, Raph
2CRX, CORD2, CRD, LCA7Cone-rod retinal dystrophy-2
Leber congenital amaurosis 7
2SALL1, HSAL1, TBSTownes-Brocks syndrome
Townes-Brocks branchiootorenal-like syndrome
Enlarged vestibular aqueduct, digenic
2HSPB1, HSP27, CMT2F, HMN2BNeuropathy, distal hereditary motor, type IIB
Charcot-Marie-Tooth disease, axonal, type 2F
2HTRA1, PRSS11, ARMD7Macular degeneration, age-related, 7
Macular degeneration, age-related, neovascular type
2SNAI2, SLUG, WS2DWaardenburg syndrome, type 2D
2FGF10Aplasia of lacrimal and salivary glands
LADD syndrome
2KLF6, COPEB, BCD1, ZF9Prostate cancer, somatic
Gastric cancer, somatic
2CLCNKBBartter syndrome, type 3
Bartter syndrome, type 4, digenic
2RFX5Bare lymphocyte syndrome, type II, complementation group C
Bare lymphocyte syndrome, type II, complementation group E
2HSD17B4D-bifunctional protein deficiency
Perrault syndrome
2PEX13, ZWS, NALDZellweger syndrome
Adrenoleukodystrophy, neonatal
2VDRRickets, vitamin D-resistant, type IIA
Osteoporosis, involutional
2PEX7, RCDP1Rhizomelic chondrodysplasia punctata, type 1
Refsum disease
2NEUROD1, NIDDMDiabetes mellitus, noninsulin-dependent
Maturity-onset diabetes of the young 6
2HADHSC, SCHAD, HHF43-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
2SMARCB1, SNF5, INI1, RDT, RTPS1Rhabdoid tumors, somatic
Rhabdoid predisposition syndrome 1
2WNT7AUlna and fibula, absence of, with sever limb deficiency
Fuhrmann syndrome
2PAFAH1B1, LIS1Lissencephaly 1
Subcortical laminar heterotopia
2CHI3L1, GP39, YKL40, ASRT7Schizophrenia, susceptibility to
Asthma-related traits, susceptibility to, 7
2PEX6, PXAAA1, PAF2Peroxisomal biogenesis disorder, complementation group 4
Peroxisomal biogenesis disorder, complementation group 6
2ABCC9, SUR2, CMD1O, ATFB12Cardiomyopathy, dilated, 1O
Atrial fibrillation, familial, 12
2SGCD, SGD, LGMD2F, CMD1LMuscular dystrophy, limb-girdle, type 2F
Cardiomyopathy, dilated, 1L
2HMPS1, CRAC1, CRCS4Polyposis syndrome, mixed hereditary 1
Colorectal cancer, susceptibility to, 4
2SIX1, BOS3, DFNA23Brachiootic syndrome 3
Deafness, autosomal dominant 23
2TLR1, TIL. LPRS5Leprosy, protection against
Leprosy, susceptibility to, 5
2CCL11, SCYA11HIV1, resistance to
Asthma, susceptibility to
2CYP2C9Tolbutamide poor metabolizer
Warfarin sensitivity
2FOXE3, FKHL12, ASMDAnterior segment mesenchymal dysgenesis
Aphakia, congenital primary
2VCP, IBMPFD, ALS14Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia
2GSS, GSHSHemolytic anemia due to glutathione synthetase deficiency
Glutathione synthetase deficiency
2TNXB, TNX, TNXB1, TNXBS, TNXB2, EDS3Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Ehlers-Danlos syndrome, autosomal dominant, hypermobility type
2NR3C2, MLR, MCRPseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
2MYBPC3, CMH4Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated
2SERPINH2, PPROM, CBP2, CBP1, OI10Preterm premature rupture of the membranes, susceptibility to
Osteogenesis imperfecta, type X
2CRYBB1, CATCN3Cataract, pulverulent
Cataract, congenital nuclear, autosomal recessive 3
2GFI1, ZNF163, SCN2Neutropenia, severe congenital 2, autosomal dominant
Neutropenia, nonimmune chronic idiopathic, of adults
2CSRP3, CRP3, CLP, CMD1M, CMH12Cardiomyopathy, dilated, 1M
Cardiomyopathy, familial hypertrophic, 12
2PSEN2, AD4, STM2, CMD1VAlzheimer disease-4
Cardiomyopathy, dilated, 1V
2KCNJ5, GIRK4, KATP1, LQT13Long QT syndrome 13
Hyperaldosteronism, familial, type III
2IHH, BDA1Acrocapitofemoral dysplasia
Brachydactyly, type A1
Leukemia, acute myeloid
2SLC16A1, MCT1, HHF7Erythrocyte lactate transporter defect
Hyperinsulinemic hypoglycemia, familial, 7
2XRCC3, CMM6Melanoma, cutaneous malignant, 6
Breast cancer susceptibility to
2HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7, CLPED1Cleft lip/palate-ectodermal dysplasia syndrome
Orofacial cleft 7
2NRXN1, PTHSL2, SCZD17Pitt-Hopkins-like syndrome 2
Schizophrenia, susceptibility to, 17
2DLX3, TDO, AI4Trichodontoosseous syndrome
Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism
2AKR1C2, DDH2, DD2, HAKRD, SRXY8Obesity, hyperphagia, and developmental delay
46XY sex reversal 8
2ECE1Hirschsprung disease, cardiac defects, and autonomic dysfunction
Hypertension, essential, susceptibility to
2PEX5, PXR1, PTS1RAdrenoleukodystrophy, neonatal
Zellweger syndrome
2GUCA1A, GCAP, COD3, CORD14Cone dystrophy-3
Cone-rod dystrophy 14
2COMP, EDM1, MED, PSACHPseudoachondroplasia
Epiphyseal dysplasia, multiple 1
2GARS, SMAD1, CMT2D, HMN5Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
2HNF4A, TCF14, MODY1MODY, type I
Diabetes mellitus, noninsulin-dependent
2NOTCH2, AGS2, HJCYSAlagille syndrome 2
Hajdu-Cheney syndrome
2NRAMP1, NRAMP, SLC11A1Mycobacterium tuberculosis, susceptibility to infection by
Buruli ulcer, susceptibility to
2PMS2, PMSL2, HNPCC4Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 4
2PDCD1, SLEB2Systemic lupus erythematosus, susceptibility to, 2
Multiple sclerosis, disease progression, modifier of
2SCNN1A, BESC2Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
2GCH1, DYT5, HPABH4BDystonia, DOPA-responsive, with or without hyperphenylalainemia
Hyperpehnylalaninemia, BH4-deficient, B
2RUNX2, CBFA1, PEBP2A1, AML3Cleidocranial dysplasia
Dental anomalies, isolated
2ASIP, AGTIL, SHEP9Skin/hair/eye pigmentation 9, dark/light hair
Skin/hair/eye pigmentation 9, brown/nonbrown eyes
2GUCY2D, GUC2D, LCA1, CORD6, RCD2Leber congenital amaurosis 1
Cone-rod dystrophy 6
2SGCA, ADL, DAG2, LGMD2D, DMDA2Muscular dystrophy, limb-girdle, type 2D
Adhalinopathy, primary
2MMP13, CLG3, MANDP1Spondyloepimetaphyseal dysplasia, Missouri type
Metaphyseal anadysplasia 1
2TBP, SCA17, HDL4Spinocerebellar ataxia 17
Parkinson disease, susceptibility to
2BAXColorectal cancer
T-cell acute lymphoblastic leukemia
Prostate cancer, susceptibility to
2MHC2TA, C2TABare lymphocyte syndrome, type II, complementation group A
Rheumatoid arthritis, susceptibility to
2SRY, TDF, TDY, SRXX1, SRXY146XY sex reversal 1
46XX sex reversal 1
2SOX3, MRGHMental retardation, X-linked, with isolated growth hormone deficiency
Panhypopituitarism, X-linked
2VSPATurner syndrome-associated neurocognitive phenotype
Visuospatial/perceptual abilities
2IL2RG, SCIDX1, SCIDX, IMD4Severe combined immunodeficiency, X-linked
Combined immunodeficiency, X-linked, moderate
2HPRT1, HPRTLesch-Nyhan syndrome
HPRT-related gout
2ALAS2, ANH1, ASB, XLEPP, XLSA, ANH1Anemia, sideroblastic, X-linked
Protoporphyria, erythropoietic, X-linked
2OPN1LW, RCP, CBP, CBBMColorblindness, protan
Blue cone monochromacy
2OPN1MW, GCP, CBD, CBBMColorblindness, deutan
Blue cone monochromacy
2GPR143, OA1, NYS6Ocular albinism, type I, Nettleship-Falls type
Nystagmus 6, congenital, X-linked
2PHKA2, PHK, XLG, PHK, PYKL, GSD9AGlycogen storage disease, type IXa1
Glycogen storage disease, type IXa2
2MAGT1, IAP, XMENMental retardation, X-linked 95
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
2NDP, NDNorrie disease
Exudative vitreoretinopathy, X-linked
2GLAFabry disease
Fabry disease, cardiac variant
2FRMD7, NYS1, XIPANNystagmus 1, congenital, X-linked
Nystagmus, infantile periodic alternating, X-linked
2FGD1, FGDY, AAS, MRXS16Aarskog-Scott syndrome
Mental retardation, X-linked syndromic 16
2AVPR2, DIR, DI1, ADHRDiabetes insipidus, nephrogenic
Nephrogenic syndrome of inappropriate antidiuresis
2OCRL, LOCR, OCRL1, NPHL2Lowe syndrome
Dent disease 2
2PDHA1, PHE1APyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
2CYBB, CGD, AMCBX2Chronic granulomatous disease, X-linked
Atypical mycobacteriosis, familial, X-linked 2
2DAX1, AHC, AHX, NROB1, SRXY2Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
46XY sex reversal 2, dosage-sensitive
2NHS, CXNNance-Horan syndrome
Cataract, congenital, X-linked
2ED1, EDA, HED, STHAGX1Ectodermal dysplasia, anhidrotic, X-linked
Tooth agenesis, selective, X-linked 1
2PLP1, PMD, HLD1Pelizaeus-Merzbacher disease
Spastic paraplegia-2
2ABCD1, ALD, AMNAdrenoleukodystrophy
2NLGN3, ASPGX1, AUTSX1Autism susceptibility, X-linked 1
Asperger syndrome susceptibility, X-linked 1
2BTK, AGMX1, IMD1, XLA, ATAgammaglobulinemia, X-linked 1
Agammaglobulinemia and isolated hormone deficiency
2MBTPS2, S2P, IFAP, KFSDXIchthyosis follicularis, atrichia, and photophobia syndrome
Keratosis follicularis spinulosa decalvans, X-linked
2FOXP3, IPEX, AIID, XPID, PIDXImmunodysregulation, polyendocrinopathy, and enteropathy, X-linked
Diabetes mellitus, type I, susceptibility to
2NSDHLCHILD syndrome
CK syndrome
2ZIC3, HTX1, HTXHeterotaxy, visceral, 1, X-linked 306955
Congenital heart defects, nonsyndromic, 1, X-linked
2BMP15, GDF9B, ODG2, POF4Ovarian dysgenesis 2
Premature ovarian failure 4
2CDKL5, STK9, ISSX, EIEE2Epileptic encephalopathy, early infantile, 2
Angelman syndrome-like
2MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1Opitz-Kaveggia syndrome
Lujan-Fryns syndrome
2DKC1, DKCXDyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
2DCX, DBCN, LISXLissencephaly, X-linked
Subcortical laminal heteropia, X-linked
2RPS6KA3, RSK2, MRX19Coffin-Lowry syndrome
Mental retardation, X-linked 19
2GPC3, SDYS, SGBS1Simpson-Golabi-Behmel syndrome, type 1
Wilms tumor, somatic
2PRSS1, TRY1Pancreatitis, hereditary
Trypsinogen deficiency
2TBXAS1, GHOSAL, CYP5, BDPLT14Ghosal hematodiaphyseal syndrome
Thromboxane synthase deficiency
2F11Factor XI deficiency, autosomal recessive
Factor XI deficiency, autosomal dominant
2MVK, MVLKMevalonic aciduria
Hyper-IgD syndrome
2DLD, LAD, PHE3Maple syrup urine disease, type III
Leigh syndrome
2C6C6 deficiency
Combined C6/C7 deficiency
2CFI, FI, AHUS3Complement factor I deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 3
2VCL, CMD1W, CMH15Cardiomyopathy, dilated, 1W
Cardiomyopathy, familial hypertrophic, 15
2PLAU, URK, QPD, BDPLT5Alzheimer disease, late-onset, susceptibility to
Quebec platelet disorder
2NTRK1, TRKA, MTCInsensitivity to pain, congenital, with anhidrosis
Medullary thyroid carcinoma, familial
2KDRHemangioma, capillary infantile, somatic
Hemangioma, capillary infantile, susceptibility to
2TSC2, LAMTuberous sclerosis-2
Lymphangioleiomyomatosis, somatic
2TNNC1, CMD1Z, CMH13Cardiomyopathy, dilated, 1Z
Cardiomyopathy, familial hypertrophic, 13
2TPM1, CMH3, CMD1YCardiomyopathy, familial hypertrophic, 3
Cardiomyopathy, dilated, 1Y
2NOTCH1, TAN1Aortic valve disease
Leukemia, T-cell acute lymphoblastic
2TGFB1, DPD1, CEDCamurati-Engelmann disease
Cystic fibrosis lung disease, modifier of
2ZEB1, TCF8, NIL2A, PPCD3, FECD6Corneal dystrophy, posterior polymorphous, 3
Corneal dystrophy, Fuchs endothelial, 6
2TG, AITD3, TDH3Thyroid dyshormonogenesis 3
Autoimmune thyroid disease, susceptibility to 3
2CCL5, SCYA5, D17S136E, TCP228HIV-1 disease, delayed progression of
HIV-1 disease, rapid progression of
2CD3EImmunodeficiency due to defect in CD3-epsilon
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
2EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8Diarrhea 5, with tufting enteropathy, congenital
Colorectal cancer, hereditary nonpolyposis, type 8
2KITLG, MGF, SF, SCF, SHEP7Skin/hair/eye pigmentation 7, blond/brown hair
Hyperpigmentation, familial progressive, 2
2SOX2, MCOPS3Microphthalmia, syndromic 3
Optic nerve hypoplasia and abnormalities of the central nervous system
2SOS1, GINGF, GF1, HGF, NS4Fibromatosis, gingival
Noonan syndrome 4
2SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNISSeizures, benign familial infantile, 3
Epileptic encephalopathy, early infantile, 11
2SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Fanconi renotubular syndrome 2
2SLC6A4, HTT, OCD1Anxiety-related personality traits
Obsessive-compulsive disorder 1
2SAG, RP47Oguchi disease-1
Retinitis pigmentosa 47
2RYR2, VTSIP, ARVD2, ARVC2Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
2RHAG, RH50AAnemia, hemolytic, Rh-null, regulator type
Rh-mod syndrome
2PDE6B, PDEB, RP40, CSNBAD2Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa-40
2RPE65, RP20, LCA2Leber congenital amaurosis 2
Retinitis pigmentosa 20
2EPHA2, ECK, ARCC2, CTPP1, CTPA, ARCC2Cataract, posterior polar, 1
Cataract, age-related cortical, 2
2POMCObesity, adrenal insufficiency, and red hair due to POMC deficiency
Obesity, early-onset, susceptibility to
2ZBTB16, ZNF145, PLZFLeukemia, acute promyelocytic, PL2F/RARA type
Skeletal defects, genital hypoplasia, and mental retardation
2KCNE1, JLNS, LQT5, JLNS2Jervell and Lange-Nielsen syndrome 2
Long QT syndrome-5
2SELP, GRMPPlatelet alpha/delta storage pool deficiency
Atopy, susceptibility to
2PDGFRAGastrointestinal stromal tumor, somatic
Hypereosinophilic syndrome, idiopathic, resistant to imatinib
2PDGFRB, PDGFRMyeloproliferative disorder with eosinophilia
Myelomonocytic leukemia, chronic
2PLAT, TPAThrombophilia, familial, due to decreased release of PLAT
Hyperfibrinolysis, familial, due to increased release of PLAT
2PAI1, PLANH1, SERPINE1Plasminogen activator inhibitor-1 deficiency
Transcription of plasminogen activator inhibitor, modulator of
2JUP, DP3, PDGB, ARVD12Naxos disease
Arrhythmogenic right ventricular dysplasia 12
2PHKG2, GSD9CGlycogen storage disease IXc
Cirrhosis due to liver phosphorylase kinase deficiency
2MTHFD, MTHFCSpina bifida, folate-sensitive, susceptibility to
Abruptio placentae, susceptibility to
2PLN, PLB, CMD1P, CMH18Cardiomyopathy, dilated, 1P
Cardiomyopathy, familial hypertrophic, 18
2ABCB1, PGY1, MDR1, IBD13Colchicine resistance
Inflammatory bowel disease 13
2PXMP3, PAF1, PMP35, PEX2Zellweger syndrome-3
Refsum disease, infantile
2PRF1, HPLH2, FLH2Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
2TAP2, ABCB3, PSF2, RING11Bare lymphocyte syndrome, type I, due to TAP2 deficiency
Wegener-like granulomatosis
2PTHLH, BDE2Humoral hypercalcemia of malignancy
Brachydactyly, type E2
2CCND1, PRAD1, BCL1Colorectal cancer, susceptibility to
von Hippel-Lindau disease, modification of
2PTHHypoparathyroidism, autosomal dominant
Hypoparathyroidism, autosomal recessive
2PAX2Optic nerve coloboma with renal disease
Renal hypoplasia, isolated
2RAF1, CRAF, NS5Noonan syndrome 5
LEOPARD syndrome 2
2AKT2, HIHGHHDiabetes mellitus, type II
Hypoinsulinemic hypoglycemia with hemihypertrophy
2OAS1, OIASViral infection, susceptibility to
Diabetes mellitus, type 1, susceptibility to
2LEP, OBObesity, severe, due to leptin deficiency
Obesity, morbid, with hypogonadism
2NPM1Leukemia, acute promyelocytic, NPM/RARA type
Leukemia, acute myeloid
2NOS2A, NOS2Hypertension, susceptibility to
Malaria, resistance to
2CXCR4, D2S201E, NPY3R, WHIMWHIM syndrome
Myelokathexis, isolated
2NEFL, CMT2E, CMT1FCharcot-Marie-Tooth disease, type 2E
Charcot-Marie-Tooth disease, type 1F
2PCSK1, NEC1, PC1, PC3, BMIQ12Obesity with impaired prohormone processing
Obesity, susceptibility to, BMIQ12
2NRL, D14S46E, RP27Retinitis pigmentosa 27
Retinal degeneration, autosomal recessive, clumped pigment type
2IL12B, NKSF2BCG and salmonella infection, disseminated
Asthma, susceptibility to
2MYH8Carney complex variant
Trismus-pseudocamptodactyly syndrome
2MYH3Arthrogryposis, distal, type 2A
Arthrogryposis, distal, type 2B
Metabolic syndrome, protection against
2MTRMethylcobalamin deficiency, cblG type
Neural tube defects, folate-sensitive, susceptibility to
2LAMA2, LAMMMuscular dystrophy, congenital merosin-deficient
Muscular dystrophy, congenital, due to partial LAMA2 deficiency
2MC3R, BMIQ9Obesity, severe, susceptibility to, BMIQ9
Mycobacterium tuberculosis, protection against
2MGP, NTIKeutel syndrome
Natural teeth remaining intact
2ME2, ODS1Epilepsy, idiopathic generalized, susceptibility to
Opioid dependence, susceptibility to
2MSR1, SCARA1, SRAProstate cancer, hereditary
Barrett esophagus/esophageal adenocarcinoma
2PLOD, PLOD1Ehlers-Danlos syndrome, type VI
Nevo syndrome
2LHBHypogonadism, hypergonadotropic
Male pseudohermaphroditism due to defective LH
2ALOX5Atherosclerosis, susceptibility to
Asthma, diminished response to antileukotriene treatment in
2LPACoronary artery disease, susceptibility to
LPA deficiency, congenital
2PTPRC, CD45, LCAHepatitic C virus, susceptibility to
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
2BCR, CML, PHL, ALLLeukemia, chronic myeloid
Leukemia, acute lymphocytic
2RUNX1, CBFA2, AML1Leukemia, acute myeloid
Platelet disorder, familial, with associated myeloid malignancy
2LAMB2, LAMS, NPHS5Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
2LAMB3Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
2LAMC2, LAMNB2, LAMB2TEpidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
2KRT18Cirrhosis, cryptogenic
Cirrhosis, noncryptogenic, susceptibility to
2KRT17, PC2, PCHC1Pachyonychia congenita, Jackson-Lawler type
Steatocystoma multiplex
2KRT8Cirrhosis, cryptogenic
Cirrhosis, noncryptogenic, susceptibility to
2IL4R, IL4RAAtopy, susceptibility to
AIDS, slow progression to
2IL2RA, IL2R, IDDM10Interleukin-2 receptor, alpha chain, deficiency of
Diabetes, mellitus, insulin-dependent, susceptibility to, 10
2IL13, ALRH, BHR1Asthma, susceptibility to
Allergic rhinitis, susceptibility to
2IRS1Diabetes mellitus, noninsulin-dependent
Coronary artery disease, susceptibility to
2IMPDH1, RP10, LCA11Retinitis pigmentosa 10
Leber congenital amaurosis 11
2CHX10, HOX10, MCOP2, MCOPCB3Microphthalmia with coloboma 3
Microphthalmia, isolated 2
2HOXD10, HOX4DVertical talus, congenital
Charcot-Marie-Tooth disease, foot deformity of
2HOXA13, HOX1JHand-foot-uterus syndrome
Guttmacher syndrome
2HOXA1, HOX1F, BSASBosley-Salih-Alorainy syndrome
Athabaskan brainstem dysgenesis syndrome
2HMGCR, LDLCQ3Statins, attenuated cholesterol lowering by
Low density lipoprotein cholesterol level QTL 3
2HLA-C, PSORS1Psoriasis susceptibility 1
HIV-1 viremia, susceptibility to
2HRGThrombophilia due to HRG deficiency
Thrombophilia due to elevated HRG
2HSPG2, PLC, SJS, SJA, SJS1Schwartz-Jampel syndrome, type 1
Dyssegmental dysplasia, Silverman-Handmaker type
2HBG2, TNCYFetal hemoglobin quantitative trait locus 1
Cyanosis, transient neonatal
2HBDThalassemia, delta-
Thalassemia due to Hb Lepore
2HMOX1Heme oxygenase-1 deficiency
Pulmonary disease, chronic obstructive, susceptibility to
2GNAI2, GNAI2B, GIPPituitary ACTH-secreting adenoma
Ventricular tachycardia, idiopathic
2GHRH, GHRFIsolated growth hormone deficiency due to defect in GHRF
Gigantism due to GHRF hypersecretion
2GNRHR, LHRHRHypogonadotropic hypogonadism
Fertile eunuch syndrome
2GP1BB, BS, BDPLT1Bernard-Soulier syndrome, type B
Giant platelet disorder, isolated
2CFB, BF, GBG, AHUS4Macular degeneration, age-related, reduced risk of
Hemolytic uremic syndrome, atypical, susceptibility to, 4
2SLC2A2, GLUT2Diabetes mellitus, noninsulin-dependent
Fanconi-Bickel syndrome
2SLC2A1, GLUT1, DYT18, PED, ,GLUT1DSGLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 2
2GABRB3, ECA5Insomnia
Epilepsy, childhood absence, susceptibility to, 5
2GGCXVitamin K-dependent coagulation defect
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
2GABRA1, EJM5, ECA4Epilepsy, juvenile myoclonic, susceptibility to, 5
Epilepsy, childhood absence, susceptibility to, 4
2FH, HLRCC, MCUL1Fumarase deficiency
Leiomyomatosis and renal cell cancer
2FLT4, VEGFR3, PCL, LMPH1ALymphedema, hereditary I
Hemangioma, capillary infantile, somatic
2FLG, ATOD2Ichthyosis vulgaris
Dermatitis, atopic, susceptibility to, 2
2FN1, FN, LETS, FNZ, GFND2Glomerulopathy with fibronectin deposits 2
Plasma fibronectin deficiency
2FTL, NBIA3Hyperferritinemia-cataract syndrome
Neurodegeneration with brain iron accumulation 3
2CFHR1, FHR1, HFL1, CFHL1Macular degeneration, age-related, reduced risk of
Hemolytic uremic syndrome, atypical, susceptibility to
2ERCC5, XPG, COFS3Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3
2ERCC4, XPFXeroderma pigmentosum, group F
XFE progeroid syndrome
2ERCC3, XPBXeroderma pigmentosum, group B
2EWSR1, EWSEwing sarcoma
2ELNSupravalvar aortic stenosis
Cutis laxa, AD
2ELANE, ELA2, SCN1Neutropenia, cyclic
Neutropenia, severe congenital 1, autosomal dominant
2SLC26A3, DRA, CLDColon cancer
Chloride diarrhea, congenital, Finnish type
2DRD3, ETM1, FET1Schizophrenia, susceptibility to
Essential tremor, susceptibility to
2DSG2, ARVD10, ARVC10, CMD1BBArrhythmogenic right ventricular dysplasia 10
Cardiomyopathy, dilated, 1BB
2ALAD, ALADH, PBGSPorphyria, acute hepatic
Lead poisoning, susceptibility to
2CYP2D6, CPD6, P450DB1Debrisoquine sensitivity
Codeine sensitivity
2PORAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Disordered steroidogenesis due to cytochrome P450 oxidoreductase
2CRFB4, IBD25Hepatitis B virus, susceptibility to
Inflammatory bowel disease 25, early onset, autosomal recessive
2CRYGC, CRYG3, CCLCataract, Coppock-like
Cataract, variable zonular pulverulent
2CRYBA4, MCOPCT4Cataract, lamellar 2
Microphthalmia with cataract 4
2C9C9 deficiency
C9 deficiency with dermatomyositis
2MME, CD10, CALLA, NEPNeutral endopeptidase deficiency
Membranous glomerulonephritis, antenatal
2DCCColorectal cancer
Mirror movements, congenital
2MMP1, CLGCOPD, rate of decline of lung function in
Epidermolysis bullosa dystrophica, autosomal recessive, modifier of
2COL8A2, FECD1, PPCD2Corneal dystrophy, Fuchs endothelial, 1
Corneal dystrophy polymorphous posterior, 2
2COL6A3Bethlem myopathy
Ullrich congenital muscular dystrophy
2COL5A1Ehlers-Danlos syndrome, type II
Ehlers-Danlos syndrome, type I
2COL9A1, EDM6, STL4Epiphyseal dysplasia, multiple, 6
Stickler syndrome, type IV
2COL3A1Ehlers-Danlos syndrome, type IV
Ehlers-Danlos syndrome, type III
2COL4A4Alport syndrome, autosomal recessive
Hematuria, familial benign
2COL4A3Alport syndrome, autosomal recessive
Hematuria, benign familial
2CHRNA4, ENFL1Epilepsy, nocturnal frontal lobe, 1
Nicotine addiction, susceptibility to
2CETP, HDLCQ10Hyperalphalipoproteinemia
High density lipoprotein cholesterol level QTL 10
2HSPD1, SPG13, HSP60, HLD4Spastic paraplegia-13
Leukodystrophy, hypomyelinating, 4
2COMTSchizophrenia, susceptibility to
Panic disorder, susceptibility to
2NUP214, D9S46E, CAN, CAINLeukemia, acute myeloid
Leukemia, T-cell acute lymphoblastic
2CACNA1C, CACNL1A1, CCHL1A1, TSTimothy syndrome
Brugada syndrome 3
2CDH3, CDHP, PCAD, HJMDHypotrichosis, congenital, with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
2BRCA1, PSCP, BROVCA1, PNCA4Breast-ovarian cancer, familial, 1
Pancreatic cancer, susceptibility to, 4
2BMP4, BMP2B1, BMP2B, MCOPS6, OFC11Microphthalmia, syndromic 6
Orofacial cleft 11
2BMP2, BMP2A, BDA2HFE hemochromatosis, modifier of
Brachydactyly, type A2
2RHCEBlood group, Rhesus
Rh-null disease, amorph type
2GYPA, MN, GPABlood group, MN
Malaria, resistance to
2GYPC, GE, GPCMalaria, resistance to
Blood group, Gerbich
2ADRB1, ADRB1R, RHRResting heart rate
Congestive heart failure and beta-blocker response, modifier of
2ATP2A2, ATP2B, DARDarier disease
Acrokeratosis verruciformis
2CYP19A1, CYP19, AROAromatase deficiency
Aromatase excess syndrome
2AQP1, CHIP28, COBlood group, Colton
Aquaporin-1 deficiency
2APOA2Apolipoprotein A-II deficiency
Hypercholesterolemia, familial, modification of
2SERPINA3, AACT, ACTAlpha-1-antichymotrypsin deficiency
Cerebrovascular disease, occlusive
2ANK2, LQT4Long QT syndrome-4
Cardiac arrhythmia, ankyrin-B-related
2AGTR1, AGTR1A, AT2R1Hypertension, essential
Renal tubular dysgenesis
2AFP, HPAFPAFP deficiency, congenital
Hereditary persistence of alpha-fetoprotein
2A2M , A2MDAlpha-2-macroglobulin deficiency
Alzheimer disease, susceptibility to
2ADH1C, ADH3Alcohol dependence, protection against
Parkinson disease, susceptibility to
2SLC25A4, ANT1, T1, PEO3, PEO2Progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Cardiomyopathy, familial hypertrophic
2ACTN3Alpha-actinin-3 deficiency
Sprinting performance
2FLNC, FLN2, ABPA, ABPL, MFM5, MPD4Myopathy, myofibrillar, 5
Myopathy, distal, 4
2ASCL1, ASH1Central hypoventilation syndrome, congenital
Haddad syndrome
2CHRNB1, ACHRB, SCCMS, CMS2A, CMS1DMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Database Center for Life Science