Allelic heterogeneity

Source: OMIM morbidmap ('11-1-8)

FrequencyGeneRelated Diseases
15COL2A1Stickler syndrome, type I
Kniest dysplasia
Achondrogenesis-hypochondrogenesis, type II
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
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
Scaphocephaly and Axenfeld-Rieger anomaly
LADD syndrome
Scaphocephaly, maxillary retrusion, and mental retardation
12FGFR3, 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
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
10LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1BEmery-Dreifuss muscular dystrophy, AD
Cardiomyopathy, dilated, 1A
Lipodystrophy, familial partial
Emery-Dreifuss muscular dystrophy, AR
Charcot-Marie-Tooth disease, type 2B1
Muscular dystrophy, limb-girdle, type 1B
Mandibuloacral dysplasia
Hutchinson-Gilford progeria
Restrictive dermopathy, lethal
Heart-hand syndrome, Slovenian type
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
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
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
Desmoid disease, hereditary
Gardner syndrome
Brain tumor-polyposis syndrome 2
Colorectal cancer, somatic
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
Osteopetrosis, AD type I
Hyperostosis, endosteal
van Buchem disease, type 2
Exudative vitreoretinopathy 4
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 type 1
8SCN5A, 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
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
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
8MEN1Multiple endocrine neoplasia I
Hyperparathyroidism, AD
Prolactinoma, hyperparathyroidism, carcinoid syndrome
Carcinoid tumor of lung
Parathyroid adenoma, somatic
Lipoma, somatic
Angiofibroma, somatic
Adrenal adenoma, somatic
7TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Split-hand/foot malformation, type 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 to, X-linked-3
Angelman syndrome
Mental retardation, X-linked, Lubs type
7RET, MEN2AMultiple endocrine neoplasia IIA
Medullary thyroid carcinoma
Multiple endocrine neoplasia IIB
Hirschsprung disease
Central hypoventilation syndrome, congenital
Renal agenesis
7MPZ, CMT1B, CMTDI3, CHM, DSSCharcot-Marie-Tooth disease, type 1B
Dejerine-Sottas syndrome
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
7HBBSickle cell anemia
Thalassemias, beta-
Erythremias, beta-
Methemoglobinemias, beta-
Heinz body anemias, beta-
Thalassemia-beta, dominant inclusion-body
Hereditary persistence of fetal hemoglobin
7FBN1, MFS1, WMS, SSKSMarfan syndrome
Shprintzen-Goldberg syndrome
Ectopia lentis, familial
MASS syndrome
Weill-Marchesani syndrome, dominant
Aortic aneurysm, ascending, and dissection
Stiff skin syndrome
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
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
Lung cancer
UV-sensitive syndrome
6MTHFRHomocystinuria due to MTHFR deficiency
Schizophrenia, susceptibility to
Vascular disease, susceptibility to
Neural tube defects, susceptibility to
Cleft lip/palate, susceptibility to
Thromboembolism, susceptibility to
6SLC26A2, DTD, DTDST, D5S1708, EDM4Diastrophic dysplasia
Atelosteogenesis II
Achondrogenesis Ib
Epiphyseal dysplasia, multiple, 4
Diastrophic dysplasia, broad bone-platyspondylic variant
De la Chapelle dysplasia
6TRPV4, 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
6BCL10Lymphoma, MALT
Lymphoma, follicular
Germ cell tumor
Sezary syndrome
Colon cancer
6SDHD, PGL1Paragangliomas, familial nonchromaffin, 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, with decreased caveolin 3
Cardiomyopathy, familial hypertrophic
Long QT syndrome-9
6L1CAM, CAML1, HSAS1Hydrocephalus due to aqueductal stenosis
MASA syndrome
CRASH syndrome
Hydrocephalus with Hirschsprung disease and cleft palate
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 36/43/54
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
6HFE, HLA-H, HFE1, MVCD7Hemochromatosis
Transferrin serum level QTL
Microvascular complications of diabetes 7
Porphyria variegata, susceptibility to
Porphyria cutanea tarda, susceptibility to
Alzheimer disease, susceptibility to
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
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
6GLI3, PAPA, PAPB, ACLSGreig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly, preaxial, type IV
Polydactyly, postaxial, types A1 and B
Acrocallosal syndrome
Hypothalamic hamartomas, somatic
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, DFNA17May-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
Melanoma susceptibility 5
Analgesia from kappa-opioid receptor agonist, female-specific
Oculocutaneous albinism, type II, modifier of,0 203200
UV-induced skin damage
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
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, HSSOculodentodigital dysplasia
Syndactyly, type III
Hypoplastic left heart syndrome
Atrioventricular septal defect
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
6PSEN1, 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
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
5VHLvon Hippel-Lindau syndrome
Renal cell carcinoma, somatic
Hemangioblastoma, cerebellar, somatic
Polycythemia, benign familial
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
5WT1, NPHS4Wilms tumor, type 1
Denys-Drash syndrome
Nephrotic syndrome, type 4
Frasier syndrome
Meacham syndrome
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
5SCN4A, HYPP, NAC1A, HOKPP2Hyperkalemic periodic paralysis, type 2
Paramyotonia congenita
Myotonia congenita, atypical, acetazolamide-responsive
Cramps, familial, potassium-aggravated
Myasthenic syndrome
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
Synostoses syndrome, multiple, 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
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
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
5PRKAR1A, TSE1, CNC1, CAR, PPNAD1Carney complex, type 1
Myxoma, intracardiac
Thyroid carcinoma, papillary
Pigmented adrenocortical disease, primary, 1
Adrenocortical tumor, somatic
5SCN1A, GEFSP2, SMEI, FEB3AEpilepsy, generalized, with febrile seizures plus, type 2
Epilepsy, severe myoclonic, of infancy
Migraine, familial hemiplegic, 3
Dravet syndrome
Febrile convulsions, familial, 3A
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, CHDS7Macrothrombocytopenia
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
5BRAFMelanoma, malignant, somatic
Colorectal cancer, somatic
Adenocarcinoma of lung, somatic
Nonsmall cell lung cancer, somatic
Cardiofaciocutaneous syndrome
5MBL2, MBL, MBP1Mannose-binding protein deficiency
Diabetes mellitus, gestational, susceptibility to
Meningococcal disease, susceptibility to
Chronic infections, due to MBL deficiency
Preterm delivery, susceptibility to
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
5HLA-B, SPDA1Spondyloarthropathy, susceptibility to, 1
Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to
Abacavir hypersensitivity, susceptibility to
Synovitis, chronic, susceptibility to
Drug-induced liver injury due to flucloxacillin
5HBA2Thalassemia, alpha-
Hemoglobin H disease
Heinz body anemia
Hypochromic microcytic anemia
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
5HF1, CFH, HUS, ARMD4, AHUS1Hemolytic uremic syndrome, atypical, susceptibility to, 1}
Membranoproliferative glomerulonephritis with CFH deficiency
Macular degeneration, age-related, 4
Complement factor H deficiency
Basal laminar drusen
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
4GLB1GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
Morquio syndrome B
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
4TMEM67, MKS3, JBTS6Meckel syndrome, type 3
Joubert syndrome 6
Bardet-Biedl syndrome 14, modifier of
COACH syndrome
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
4TYR, SHEP3Albinism, oculocutaneous, type IA
Waardenburg syndrome/albinism, digenic
Albinism, oculocutaneous, type IB
Skin/hair/eye pigmentation 3, freckling
4NSD1, ARA267, STOSotos syndrome
Leukemia, acute myeloid
Weaver syndrome
Beckwith-Wiedemann syndrome
4GP1BABernard-Soulier syndrome, type A
von Willebrand disease, platelet-type
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Bernard-Soulier syndrome, benign autosomal dominant
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
4TIRAPPneumococcal 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, DFNA38Wolfram syndrome
Deafness, autosomal dominant 6/14/38
Wolfram-like syndrome, autosomal dominant
Diabetes mellitus, noninsulin-dependent, association with
4NOD2, CARD15, IBD1, CD, ACUG, PSORAS1Crohn disease, susceptibility to
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
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
4SCN9A, NENA, PN1, FEB3BErythermalgia, primary
Insensitivity to pain, channelopathy-associated
Paroxysmal extreme pain disorder
Febrile convulsions, familial, 3B
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
4FOXC1, FKHL7, FREAC3, IRID1, RIEG3Iridogoniodysgenesis, type 1
Rieger or Axenfeld anomalies
Axenfeld-Rieger syndrome, type 3
Iris hypoplasia and glaucoma
4CACNA1A, CACNL1A4, SCA6Hemiplegic migraine, familial
Episodic ataxia, type 2
Spinocerebellar ataxia-6
Cerebellar ataxia, pure
4GHRLaron dwarfism
Short stature, idiopathic
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
4SHH, HPE3, HLP3, SMMCI, MCOPCB5Holoprosencephaly-3
Solitary median maxillary central incisor
Coloboma, ocular
Microphthalmia, isolated, with coloboma 5
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
4TAZ, EFE2, BTHS, CMD3A, LVNCXEndocardial fibroelastosis-2
Barth syndrome
Cardiomyopathy, dilated, 3A
Left ventricular noncompaction, X-linked
4WAS, IMD2, THC1Wiskott-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
4SDHB, SDH2, SDHIP, PGL4Paraganglioma, familial chromaffin, 4
Paraganglioma and gastric stromal sarcoma
Cowden-like syndrome
4RYR1, MHS, CCOMalignant hyperthermia susceptibility 1
Central core disease
Minicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Bladder cancer
Pinealoma with bilateral retinoblastoma
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
Leukemia, juvenile myelomonocytic
4PSAP, SAP1Metachromatic leukodystrophy due to SAP-b deficiency
Gaucher disease, atypical
Combined SAP deficiency
Krabbe disease, atypical
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, susceptibility to, 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
4AKT1Breast cancer, somatic
Colorectal cancer, somatic
Ovarian cancer, somatic
Schizophrenia, susceptibility to
4CCL2, SCYA2, MCP1, MCAFHIV-1, resistance to
Spina bifida, susceptibility to
Coronary artery disease, modifier of
Mycobacterium tuberculosis, susceptibility to
4MTRMethylcobalamin deficiency, cblG type
Neural tube defects, folate-sensitive, susceptibility to
Down syndrome, susceptibility to
Cleft lip/palate, 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-DR1B, SS1Pemphigoid, susceptibility to
Sarcoidosis, susceptibility l, 1
Multiple sclerosis, susceptibility to
Rheumatoid arthritis, susceptibility to
4HBA1Thalassemias, alpha-
Methemoglobinemias, alpha-
Erythremias, alpha-
Heinz body anemias, alpha-
4GH1, GHN, IGHD1BGrowth hormone deficiency, isolated, type IA
Growth hormone deficiency, isolated, type IB
Growth hormone deficiency, isolated, type II
Kowarski syndrome
4GABRG2, GEFSP3, CAE2, ECA2Epilepsy, generalized, with febrile seizures plus, type 3
Epilepsy, childhood absence, susceptibility to, 2
Febrilel, convulsions, familial, 8 611277
Myoclonic epilepsy, severe, of infancy
4FGADysfibrinogenemia, alpha type, causing bleeding diathesis
Dysfibrinogenemia, alpha type, causing recurrent thrombosis
Amyloidosis, hereditary renal
Afibrinogenemia, congenital
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
4PORAntley-Bixler syndrome-like with disordered steroidogenesis
Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency
POR deficiency
Disordered steroidogenesis, isolated
4CTLA4, IDDM12, CELIAC3, GRD4Graves disease, susceptibility to, 4
Hypothyroidism, autoimmune
Diabetes mellitus, insulin-dependent, susceptibility to
Celiac disease, susceptibility to
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
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
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
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 form
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
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
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
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
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 and deafness
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, HTX2Heterotaxy, visceral, 2, autosomal
Double-outlet right ventricle
Transposition of the great arteries, dextro-looped 2
3VSX1, RINX, PPCD, PPD, KTCNKeratoconus
Corneal dystrophy, hereditary polymorphous posterior
Craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal retinal and auditory bipolar cells
3CYLD1, CDMT, EAC, MFT1Cylindromatosis, 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 to, 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
Hirschsprung disease, short-segment
Neuroblastoma, susceptibility to, 2
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
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, LGMD2BMuscular dystrophy, limb-girdle, type 2B
Miyoshi myopathy
Myopathy, distal, with anterior tibial onset
3GDF1Transposition of great arteries, dextro-looped 3
Double-outlet right ventricle
Tetralogy of Fallot
3BUB1B, BUBR1Colorectal cancer
Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
3PRKAG2, WPWS, CMH6Wolff-Parkinson-White syndrome
Cardiomyopathy, hypertrophic 6, with WPW
Glycogen storage disease of heart, lethal congenital
3SLC22A1L, BWSCR1A, IMPT1Breast cancer
Lung cancer
3CISHTuberculosis, 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
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, TRDyskeratosis congenita, autosomal dominant
Aplastic anemia
Pulmonary fibrosis, idiopathic, susceptibility to
3HR, AU, MUHH1Alopecia universalis
Atrichia with papular lesions
Hypotrichosis, hereditary, Marie Unna type, 1
3SOX10, WS4, WS4C, PCWHWaardenburg syndrome, type 4C
Waardenburg syndrome, type 2E, with or without neurologic involvement
PCWH syndrome
3CRX, CORD2, CRD, LCA7Cone-rod retinal dystrophy-2
Leber congenital amaurosis 7
Retinitis pigmentosa, late-onset dominant
3SNAI2, SLUG, WS2DWaardenburg syndrome, type 2D
Melanoma metastasis, modification of
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
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, PAFAHPlatelet-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, susceptibility to
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
3PLEC1, PLTN, EBS1Muscular dystrophy with epidermolysis bullosa simplex
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with pyloric atresia
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, sensorineural, with hypertrophic cardiomyopathy
3SDHA, SDH1, SDHF, CMD1GGLeigh syndrome
Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
3GDNFHirschsprung disease
Central hypoventilation syndrome
Pheochromocytoma, modifier of
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
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
3CPT2Myopathy due to CPT II deficiency
CPT deficiency, hepatic, type II
CPT II deficiency, lethal neonatal
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
3GCNT2Blood group, Ii
Adult i phenotype with congenital cataract
Adult i phenotype without cataract
3SCN1B, GEFSP1Generalized epilepsy with febrile seizures plus
Brugada syndrome 5
Cardiac conduction defect, nonspecific
3ABCA1, ABC1, HDLDT1, TGDTangier disease
HDL deficiency, type 2
Coronary artery disease in familial hypercholesterolemia, protection against
3LBR, PHAPelger-Huet anomaly
Greenberg 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
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 to, X-linked-2
Asperger syndrome, susceptibility to, X-linked-2
Mental retardation, 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
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, neurosensory
Deafness, autosomal dominant 11, neurosensory
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
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
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
3TERT, TCS1, EST2Aplastic anemia, susceptibility to
Pulmonary fibrosis,idiopathic, susceptibility to
Dyskeratosis congenita
3NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF746XY gonadal dysgenesis, complete or partial, with or without adrenal failure
Premature ovarian failure 7
Adrenocortical insufficiency
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
Retinitis pigmentosa, autosomal recessive
Night blindness, congenital stationery, autosomal dominant 1
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, TATIPancreatitis, 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 sporadic
Hepatocellular carcinoma, childhood type
Autism, suseptibility to, 9
3NDUFV1, UQOR1Leigh syndrome
Alexander disease
Mitochondrial complex I deficiency
3MYH6, ASD3, MYHCA, CMD1EE, CMH14Cardiomyopathy, familial hypertrophic, 14
Atrial septal defect 3
Cardiomyopathy, dilated, 1EE
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 IIA
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, acquired, susceptibility to
Short QT syndrome-1
3LIPC, HL, LIPH, HDLCQ12Hepatic lipase deficiency
High density lipoprotein cholesterol level QTL 12
Diabetes mellitus, noninsulin-dependent
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, susceptibility to, 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}
3FHFumarase deficiency
Multiple cutaneous and uterine leiomyomata
Leiomyomatosis and renal cell cancer
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
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
3SELE, ELAM1IgA nephropathy, susceptibility to
Atherosclerosis, susceptibility to
Blood pressure regulation QTL
3EGR2, KROX20Neuropathy, congenital hypomyelinating, 1
Charcot-Marie-Tooth disease, type 1D
Dejerine-Sottas neuropathy
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, CSIFHIV-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
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, C4SC4 deficiency
Blood group, Rodgers
Systemic lupus erythematosus, susceptibility to or protection against
3C3, ARMD9, AHUS5C3 deficiency
Macular degeneration, age-related, 9
Hemolytic uremic syndrome, atypical, susceptibility to, 5
3MLH1, COCA2, HNPCC2Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Muir-Torre syndrome
3COL11A1, STL2Stickler syndrome, type II
Marshall syndrome
Lumbar disc herniation, susceptibility to
3COL9A3, EDM3, IDDEpiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, with myopathy
Intervertebral disc disease, susceptibility to
3COL6A2Bethlem myopathy
Ullrich congenital muscular dystrophy
Myosclerosis, congenital
3COL6A1, OPLLBethlem myopathy
Ullrich congenital muscular dystrophy
Ossification of the posterior longitudinal spinal ligaments
3CETP, HDLCQ10CETP deficiency
High density lipoprotein cholesterol level QTL 10
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
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
2DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13Chromosome 19p13.13 deletion syndrome
Chromosome 19p13.13 duplication syndrome
2URODPorphyria cutanea tarda
Porphyria, hepatoerythropoietic
2LIPA, CESDWolman disease
Cholesteryl ester storage disease
2CBSHomocystinuria, B6-responsive and nonresponsive types
Thrombosis, hyperhomocysteinemic
2FGQTL2, BWQTL1Fasting plasma glucose level QTL 2
Birth weight QTL 1
2CYB5R3, DIA1, B5RMethemoglobinemia, type I
Methemoglobinemia, type II
2VWF, F8VWFvon Willebrand disease, autosomal dominant
von Willebrand disease, autosomal recessive
2INPP5E, MORMS, JBTS1, CORS1Mental retardation, truncal obesity, retinal dystrophy, and micropenis
Joubert syndrome 1
2DPYD, DPDDihydropyrimidine dehydrogenase deficiency
5-fluorouracil toxicity
2FECH, FCEProtoporphyria, erythropoietic, autosomal dominant
Protoporphyria, erythropoietic, autosomal recessive
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
2ATP6V0A2, WSS, ARCLCutis laxa, autosomal recessive, type II
Wrinkly skin syndrome
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, autosomal recessive 4
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, acute 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
2SLC24A2, 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
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
2P2RY5, P2Y5, LAH3, ARWH1Hypotrichosis, localized, autosomal recessive, 3
Woolly hair, autosomal recessive 1
2ERMAP, SC, RDBlood group, Scianna system
Blood group, Radin
2ADASevere combined immunodeficiency due to ADA deficiency
Adenosine deaminase deficiency, partial
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
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
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
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
2NHLRC1, EPM2A, EPM2BEpilepsy, myoclonic, Lafora type
Epilepsy, progressive myoclonic 2B
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 IID
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, CD41BGlanzmann thrombasthenia, type A
Thrombocytopenia, neonatal alloimmune
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, IBD17Crohn disease, ileal, 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, susceptibility to
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
2MCPH1Microcephaly, autosomal recessive 1
Premature chromosome condensation with microcephaly and mental retardation
2PROK2, PK2, BV8, KAL4Kallmann syndrome 4
Hypogonadism, hypogonadotropic
2CABC1, COQ8, ADCK3, SCAR9, ARCA2Coenzyme Q10 deficiency
Spinocerebellar ataxia, autosomal recessive 9
2COG1, LDLB, KIAA1381, CDG2GCongenital disorder of glycosylation, type IIg
Cerebrocostomandibular-like syndrome
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
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 and cataract
2ZMPSTE24, FACE1, STE24, MADBMandibuloacral dysplasia with type B lipodystrophy
Restrictive dermopathy, lethal
2EIF2B2Leukoencephalopathy with vanishing white matter
2BSNDBartter syndrome, type 4a
Sensorineural deafness with mild renal dysfunction
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
2WNT10A, SSPSOdontoonychodermal dysplasia
Schopf-Schulz-Passarge syndrome
2SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3Chromosome 22q13.3 deletion syndrome
Autism, chromosome 22q13.3 deletion syndrome-related
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
2CD96, TACTILEC syndrome
C-like syndrome
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 neuropathy, 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
2CRTAP, CASPOsteogenesis imperfecta, type IIB
Osteogenesis imperfecta, type VII
2ABCG8, GBD4Sitosterolemia
Gallbladder disease 4
2RPGRIP1, LCA6, CORD13Leber congenital amaurosis 6
Cone-rod dystrophy 13
2DHH46XY partial gonadal dysgenesis, with minifascicular neuropathy
46XY complete gonadal dysgenesis
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
2FCGR2B, CD32Systemic lupus erythematosus, susceptibility to
Malaria, resistance to
2PDGFRL, PDGRL, PRLTSHepatocellular cancer
Colorectal cancer
2FZD4, EVR1Exudative vitreoretinopathy
Retinopathy of prematurity
2AMACR, CBAS4Alpha-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, TIN2Dyskeratosis congenita, autosomal dominant
Revesz syndrome
2CST3, ARMD11Cerebral amyloid angiopathy
Macular degeneration, age-related, 11
2RAD54BLymphoma, non-Hodgkin
Colon adenocarcinoma
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
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
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
2DYNC2H1, DNCH2, DHC2, ATD3Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome, type III
2BMPR1B, ALK6Brachydactyly, type A2
Chrondrodysplasia, acromesomelic, with genital anomalies
2ABCC6, ARA, ABC34, MLP1, PXEPseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
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
2GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C, USH2BConvulsions, familial febrile, 4
Usher syndrome, type IIC
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
2EP300Colorectal cancer
Rubinstein-Taybi syndrome
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
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
2SDHC, PGL3Paragangliomas, familial nonchromaffin, 3
Paraganglioma and gastric stromal sarcoma
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
2CD151, PETA3, SFA1, MER2Nephropathy with pretibial epidermolysis bullosa and deafness
Blood group, Raph
2KCNQ2, EBN1Epilepsy, benign neonatal, 1
2SALL1, HSAL1, TBSTownes-Brocks syndrome
Townes-Brocks branchiootorenal-like syndrome
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
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
2LIG4LIG4 syndrome
Multiple myeloma, resistance to
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
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
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
2GDF6, CDMP2, MCOP4Klippel-Feil syndrome, autosomal dominant
Microphthalmia, isolated 4
2CYP2C9Tolbutamide poor metabolizer
Warfarin sensitivity
2FOXE3, FKHL12, ASMDAnterior segment mesenchymal dysgenesis
Aphakia, congenital primary
2GSS, GSHSHemolytic anemia due to glutathione synthetase deficiency
Glutathione synthetase deficiency
2TNXB, TNX, TNXB1, TNXBS, TNXB2Ehlers-Danlos due to tenascin X deficiency
Ehlers-Danlos syndrome, 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
2CRYBB1, CATCN3Cataract, pulverulent
Cataract, congenital nuclear, autosomal recessive 3
2GFI1, ZNF163, SCN2Neutropenia, severe congenital, autosomal dominant 2
Neutropenia, nonimmune chronic idiopathic, of adults
2CSRP3, CRP3, CLP, CMD1M, CMH12Cardiomyopathy, dilated, 1M
Cardiomyopathy, familial hypertrophic, 12
2PSEN2, AD4, STM2Alzheimer disease-4
Cardiomyopathy, dilated, 1V
2IHH, BDA1Acrocapitofemoral dysplasia
Brachydactyly, type A1
2PPT1, CLN1Ceroid lipofuscinosis, neuronal-1, infantile
Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits
Leukemia, acute myeloid
2SLC16A1, MCT1, HHF7Erythrocyte lactate transporter defect
Hyperinsulinemic hypoglycemia, familial, 7
2KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3Long QT syndrome-7
Short QT syndrome-3
2XRCC3, CMM6Melanoma, cutaneous malignant, susceptibility to, 6
Breast cancer, susceptibility to
2HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7, CLPED1Cleft lip/palate-ectodermal dysplasia syndrome
Orofacial cleft 7
2FEOM3Fibrosis of extraocular muscles, congenital, 3
Fibrosis, congenital, of vertically acting extraocular muscles
2NRXN1, PTHSL2Autism, susceptibility to
Pitt-Hopkins-like syndrome 2
2STAT4, SLEB11Rheumatoid arthritis, association with
Systemic lupus erythematous, association with susceptibility to, 11
2STAT1Mycobacterial infection, atypical, familial disseminated
STAT1 deficiency, complete
2DLX3, TDO, AI4Trichodontoosseous syndrome
Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism
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
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
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, TDY46XY complete gonadal dysgenesis
46XX true true hermaphroditism
2XKMcLeod syndrome
McLeod syndrome with neuroacanthosis
2SOX3, MRGHMental retardation, X-linked, with isolated growth hormone deficiency
Panhypopituitarism, X-linked
2VSPATurner syndrome-associated neurocognitive phenotype
Visuospatial/perceptual abilities
2MYP1, BEDMyopia-1
Bornholm eye disease
2FMR1, FRAXAFragile X syndrome
Fragile X tremor/ataxia syndrome
2IL2RG, SCIDX1, SCIDX, IMD4Severe combined immunodeficiency, X-linked
Combined immunodeficiency, X-linked, moderate
2HPRT1, HPRTLesch-Nyhan syndrome
HPRT-related gout
2OPN1LW, RCP, CBP, CBBMColorblindness, protan
Blue-cone monochromacy
2ALAS2, ANH1, ASB, XLDPP, XLSA, ANH1Anemia, sideroblastic, X-linked
Protoporphyria, erythropoietic, X-linked dominant
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
2NDP, NDNorrie disease
Exudative vitreoretinopathy, X-linked
2GLAFabry disease
Fabry disease, cardiac variant
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 deficiency
Leigh syndrome, X-linked
2DAX1, AHC, AHX, NROB1Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
Dosage-sensitive sex reversal
2PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8Renpenning syndrome
Golabi-Ito-Hall syndrome
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 to, X-linked-1
Asperger syndrome, susceptibility to, X-linked-1
2CUL4B, MRXSC, MRXHF2, SFM2Mental retardation syndrome, X-linked, Cabezas type
Mental retardation-hypotonic facies syndrome, X-linked, 2
2BTK, AGMX1, IMD1, XLA, ATAgammaglobulinemia, type 1, X-linked
Agammaglobulinemia and isolated hormone deficiency
2FOXP3, IPEX, AIID, XPID, PIDXImmunodysregulation, polyendocrinopathy, and enteropathy, X-linked
Diabetes mellitus, type I, susceptibility to
2ZIC3, HTX1, HTXHeterotaxy, visceral, 1, S-linked 306955
Congenital heart defects, nonsyndromic, 1, X-linked
2BMP15, GDF9B, ODG2, POF4Ovarian dysgenesis 2
Premature ovarian failure 4
2CDKL5, STK9, ISSXEpileptic encephalopathy, early infantile, 2
Angelman syndrome-like
2MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1Opitz-Kaveggia syndrome
Lujan-Fryns syndrome
2CASK, MICPCH, FGS4, CMGMental retardation and microcephaly with pontine and cerebellar hypoplasia
FG syndrome 4
2DKC1, DKCDyskeratosis congenita-1
Hoyeraal-Hreidarsson syndrome
2DCX, DBCN, LISXLissencephaly, X-linked
Subcortical laminal heteropia, X-linked
2RPS6KA3, RSK2, MRX19Coffin-Lowry syndrome
Mental retardation, X-linked nonspecific, type 19
2GPC3, SDYS, SGBS1Simpson-Golabi-Behmel syndrome, type 1
Wilms tumor, somatic
2PRSS1, TRY1Trypsinogen deficiency
Pancreatitis, hereditary
2TBXAS1, GHOSAL, CYP5Thromboxane synthase deficiency
Ghosal syndrome
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
2F7Factor VII deficiency
Myocardial infarction, decreased susceptibility to
2HSD11B2, HSD11KApparent mineralocorticoid excess, hypertension due to
Hypertension, mild low-renin
2C6C6 deficiency
Combined C6/C7 deficiency
2CFI, FI, AHUS3Complement factor I deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 3
2C2C2 deficiency
Macular degeneration, age-related, reduced risk of
2CYP21A2, CYP21, CA21HAdrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
2VCL, CMD1W, CMH15Cardiomyopathy, dilated, 1W
Cardiomyopathy, familial hypertrophic, 15
2ITGA2, CD49B, BRNeonatal alloimmune thrombocytopenia
Glycoprotein Ia deficiency
2UCHL1, PARK5Parkinson disease 5, susceptibility to
Parkinson disease, resistance to
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
2TGFBR1, ALK5, AAT5, LDS2A, LDS1ALoeys-Dietz syndrome, type 1A
Loeys-Dietz syndrome, type 2A
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
2CD4CD4+ lymphocyte deficiency
Lupus erythematosus, susceptibility to
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 I
2KITLG, MGF, SF, SCF, SHEP7Skin/hair/eye pigmentation 7, blond/brown hair
Hyperpigmentation, familial progressive
2SOX2, MCOPS3Microphthalmia, syndromic 3
Optic nerve hypoplasia and abnormalities of the central nervous system
2SOS1, GINGF, GF1, HGF, NS4Fibromatosis, gingival
Noonan syndrome 4
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
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, type I
Transcription of plasminogen activator inhibitor, modulator of
2JUP, DP3, PDGB, ARVD12Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
2PHKG2, GSD9CGlycogen storage disease IXc
Cirrhosis due to liver phosphorylase kinase deficiency
2MTHFD, MTHFCSpina bifida, folate-sensitive, susceptibility to
Abruptio placentae, susceptibility to
2ABCB1, PGY1, MDR1, IBD13Colchicine resistance
Inflammatory bowel disease 13, susceptibility to
2PXMP3, PAF1, PMP35, PEX2Zellweger syndrome-3
Refsum disease, infantile form
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
2GLI2, HPE9Pituitary anomalies with holoprosencephaly-like features
2MYCN, NMYC, ODED, MODEDFeingold syndrome
Microcephaly and digital abnormalities with normal intelligence
2RAF1, CRAF, NS5Noonan syndrome 5
LEOPARD syndrome 2
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
2SNCA, NACP, PARK1, PARK4Parkinson disease 4
Dementia, Lewy body
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
2MYF6Myopathy, centronuclear
Becker muscular dystrophy modifier
Metabolic syndrome, protection against
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
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, LAMSNephrosis, congenital, 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, isolated, 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, early onset, susceptibility to
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
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
2GP1BBBernard-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
2FLT4, VEGFR3, PCL, LMPH1ALymphedema, hereditary I
Hemangioma, capillary infantile, somatic
2FLG, ATOD2Ichthyosis vulgaris
Dermatitis, atopic, susceptibility to, 2
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
2MSSE, ESS1Epithelioma, self-healing, squamous 1, Ferguson-Smith type
Basal cell carcinoma
2ELNSupravalvar aortic stenosis
Cutis laxa, AD
2ELANE, ELA2, SCN1Hematopoiesis, cyclic
Neutropenia, severe congenital, autosomal dominant 1
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, familial, 10
Cardiomyopathy, dilated, 1BB
2ALAD, ALADH, PBGSPorphyria, acute hepatic
Lead poisoning, susceptibility to
2CYP2D6, CPD6, P450DB1Debrisoquine sensitivity
Codeine sensitivity
2CRFB4, IBD25Hepatitis B virus, susceptibility to
Inflammatory bowel disease 25
2CRYGC, CRYG3, CCLCataract, Coppock-like
Cataract, variable zonular pulverulent
2CRYBA4Cataract, lamellar 2
Microphthalmia, isolated, with cataract 4
2CRYAB, CRYA2, CTPP2Myopathy, cardioskeletal, desmin-related, with cataract
Cataract, posterior polar 2
2C9C9 deficiency
C9 deficiency with dermatomyositis
2C5C5 deficiency
Liver fibrosis, susceptibility to
2C1SC1r/C1s deficiency, combined
C1s deficiency, isolated
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
2COL9A2, EDM2Epiphyseal dysplasia, multiple, 2
Intervertebral disc disease, susceptibility to
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
2COL3A1Ehlers-Danlos syndrome, type IV
Ehlers-Danlos syndrome, type III
2COL4A4Alport syndrome, autosomal recessive
Hematuria, familial benign
2COL10A1Metaphyseal chondrodysplasia, Schmid type
Spondylometaphyseal dysplasia, Japanese type
2COL4A3Alport syndrome, autosomal recessive
Hematuria, benign familial
2CHRNA4, ENFL1Epilepsy, nocturnal frontal lobe, 1
Nicotine addiction, susceptibility to
2CYP11A, P450SCCLipoid congenital adrenal hyperplasia
Adrenal insufficiency, congenital with or without 46, XY sex reversal
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
2B4GALGT2, GALGT2, SDBlood group, Sd system
Blood group, Cad system
2RHCEBlood group, Rhesus
Rh-null disease, amorph type
2GYPA, MN, GPABlood group, MN
Malaria, resistance to
2SLC14A1, JK, UTE, UT1Urea transport defect, compensated
Blood group, Kidd
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
2A2MEmphysema due to alpha-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
2ASCL1, ASH1Central hypoventilation syndrome, congenital
Haddad syndrome
2CHRNB1, ACHRB, SCCMS, CMS2A, CMS1DMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

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