Allelic heterogeneity

Source: OMIM morbidmap ('08-1-8)

Freq.GeneRelated Diseases
15COL2A1Stickler syndrome, type I
Kniest dysplasia
Achondrogenesis-hypochondrogenesis, type II
SMED Strudwick type
SED congenita
Spondyloperipheral dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Platyspondylic skeletal dysplasia, Torrance type
Spondyloperipheral dysplasia
Otospondylomegaepiphyseal dysplasia
Avascular necrosis of the femoral head
Osteoarthritis with mild chondrodysplasia
13LMNA, 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
LDHCP syndrome
Werner syndrome, atypical
Myopathy, early-onset, and progeroid features
Restrictive dermopathy, lethal
Cardiomyopathy, dilated, with quadriceps myopathy
12PTEN, MMAC1Cowden disease
Lhermitte-Duclos syndrome
Prostate cancer
Endometrial carcinoma
Thyroid carcinoma, follicular
Bannayan-Riley-Ruvalcaba syndrome
VATER association with hydrocephalus
Proteus syndrome
Macrocephaly/autism syndrome
Juvenile polyposis syndrome, infantile form
12FGFR2, 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
11PAX6, AN2, MGDAPeters anomaly
Cataract, congenital, with late-onset corneal dystrophy
Foveal hypoplasia, isolated
Ectopia pupillae
Eye anomalies, multiplex
Aniridia, type II
Morning glory disc anomaly
Optic nerve hypoplasia/aplasia
Coloboma, ocular
Coloboma of optic nerve
11TP53, P53, LFS1Colorectal cancer
Li-Fraumeni syndrome
Hepatocellular carcinoma
Thyroid carcinoma
Nasopharyngeal carcinoma
Pancreatic cancer
Adrenal cortical carcinoma
Multiple malignancy syndrome
Breast cancer
11FGFR3, ACHAchondroplasia
Thanatophoric dysplasia, types I and II
Crouzon syndrome with acanthosis nigricans
Muenke syndrome
Bladder cancer
Colorectal cancer, somatic
Cervical cancer, somatic
LADD syndrome
CATSHL syndrome
Nevus, keratinocytic, nonepidermolytic
11SLC4A1, AE1, EPB3Ovalocytosis
Hemolytic anemia
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
10COL1A1Osteogenesis imperfecta, type I
OI type II
OI type III
OI type IV
Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII
Dissection of cervical arteries
Caffey disease
OI/EDS combined syndrome
8MSH2, COCA1, FCC1, HNPCC1Colorectal cancer, hereditary nonpolyposis, type 1
Ovarian cancer
Muir-Torre syndrome
Cafe-au-lait spots, multiple, with leukemia
Glioblastoma, early-onset
Lymphoma, T-cell
Neurofibromatosis, type I, with leukemia
Lynch cancer family syndrome II
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, SYNS2Acromesomelic 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
8KRAS2, RASK2, NS3Lung cancer
Bladder cancer
Breast cancer, somatic
Pancreatic carcinoma, somatic
Stomach cancer
Leukemia, acute myelogenous
Noonan syndrome 3
Costello syndrome
8APC, GS, FPCGardner syndrome
Adenomatous polyposis coli
Colorectal cancer
Desmoid disease, hereditary
Turcot syndrome
Adenomatous polyposis coli, attenuated
Gastric cancer
Adenoma, periampullary
8GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHOPseudohypoparathyroidism, type Ia
McCune-Albright syndrome
Pituitary ACTH secreting adenoma
Osseous heteroplasia, progressive
Pseudohypoparathyroidism, type 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
8COL7A1Epidermolysis 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
7TP73L, TP63, 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, PPARG2Obesity, severe
Obesity, resistance to
Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension
Glioblastoma, susceptibility to
Insulin resistance, severe, digenic
Lipodystrophy, familial partial
Abdominal body fat distribution, modifier of
7SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2Long QT syndrome-3
Brugada syndrome
Heart block, progressive, type IA
Heart block, nonprogressive
Ventricular fibrillation, idiopathic
Sick sinus syndrome
Cardiomyopathy, dilated, 1E
7ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43Infantile spasm syndrome
Myoclonic epilepsy with mental retardation and spasticity
Lissencephaly, X-linked with ambiguous genitalia
Mental retardation, X-linked 36/43/54
Proud syndrome
Partington syndrome
Otahara syndrome
7FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNSHeterotopia, periventricular
Otopalatodigital syndrome, type I
Otopalatodigital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular nodular, with frontometaphyseal dysplasia
Heterotopia, periventricular, ED variant
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
7RDS, RP7, PRPH2, PRPH, AVMD, AOFMDRetinitis pigmentosa-7
Retinitis punctata albescens
Butterfly dystrophy, retinal
Macular dystrophy, vitelliform
Foveomacular dystrophy, adult-onset, with choroidal neovascularization
Macular dystrophy
Retinitis pigmentosa, digenic
7NF1, VRNF, WSS, NFNSNeurofibromatosis, type 1
Watson syndrome
Leukemia, juvenile myelomonocytic
Melanoma, desmoplastic neurotropic
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Pseudarthrosis, tibial, in NF1
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
7HBBSickle cell anemia
Thalassemias, beta-
Erythremias, beta-
Methemoglobinemias, beta-
Heinz body anemias, beta-
HPFH, deletion type
Thalassemia-beta, dominant inclusion-body
7GJB2, CX26, DFNB1, PPK, DFNA3, KID, HIDDeafness, autosomal recessive 1
Deafness, autosomal dominant 3
Vohwinkel syndrome
Keratoderma, palmoplantar, with deafness
Keratitis-ichthyosis-deafness syndrome
Hystrix-like ichthyosis with deafness
Bart-Pumphrey syndrome
6TREX1, AGS1, AGS5, CRV, HERNSAicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 5
Cree encephalitis
Chilblain lupus
Vasculopathy, retinal, with cerebral leukodystrophy
Systemic lupus erythematosus, susceptibility to
6SCN4A, HYPP, NAC1AHyperkalemic periodic paralysis
Paramyotonia congenita
Myotonia congenita, atypical, acetazolamide-responsive
Cramps, familial, potassium-aggravated
Hypokalemic periodic paralysis
Myasthenic syndrome
6BCL10Lymphoma, MALT
Lymphoma, follicular
Germ cell tumor
Sezary syndrome
Colon cancer
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, LGMD1CMuscular dystrophy, limb-girdle, type IC
Rippling muscle disease
Creatine phosphokinase, elevated serum
Creatine phosphokinase, elevated serum
Myopathy, distal, with decreased caveolin 3
Cardiomyopathy, familial hypertrophic
6BRCA2, FANCD1Breast cancer 2, early onset
Fanconi anemia, complementation group D1
Prostate cancer
Pancreatic cancer
Breast cancer, male, susceptibility to
Wilms tumor
6AR, DHTR, TFM, SBMA, KD, SMAX1Androgen insensitivity
Spinal and bulbar muscular atrophy of Kennedy
Prostate cancer
Breast cancer, male, with Reifenstein syndrome
Prostate cancer, susceptibility to
Hypospadias, perineal
6RPGR, RP3, CRD, RP15, COD1Retinitis pigmentosa-3
Cone-rod dystrophy
Cone dystrophy-1
Retinitis pigmentosa, X-linked, with recurrent respiratory infections
Macular degeneration, X-linked atrophic
Retinitis pigmentosa, X-linked with deafness and sinorespiratory infections
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
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
6CDH1, UVO, LCAM, ECADEndometrial carcinoma
Ovarian carcinoma
Breast cancer, lobular
Gastric cancer, familial diffuse
Listeria monocytogenes, susceptibility to
Cleft lip with or without cleft palate, with gastric cancer, familial diffuse
6TGFBR2, HNPCC6, AAT3, MFS2Colon cancer
Colorectal cancer, hereditary nonpolyposis, type 6
Esophageal cancer
Loeys-Dietz syndrome
Aortic aneurysm, familial thoracic 3
Marfan syndrome, type II
6SCN1A, GEFSP2, SMEI, FEB3Epilepsy, generalized, with febrile seizures plus, type 2
Epilepsy, severe myoclonic, of infancy
Migraine, familial hemiplegic, 3
Epilepsy, intractable childhood, with generalized tonic-clonic seizures
Febrile convulsions, familial, 3
Antiepileptic drugs, response to
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
6PIK3CAOvarian cancer, somatic
Breast cancer, somatic
Colorectal cancer, somatic
Gastric cancer, somatic
Hepatocellular carcinoma, somatic
Nonsmall cell lung cancer, somatic
6CCND1, PRAD1, BCL1Parathyroid adenomatosis 1
Centrocytic lymphoma
Multiple myeloma
von Hippel-Lindau disease, modification of
Colorectal cancer, susceptibility to
Leukemia/lymphoma, chronic B-cell
6KIT, PBTPiebaldism
Mast cell leukemia
Mastocytosis with associated hematologic disorder
Germ cell tumors
Gastrointestinal stromal tumor, somatic
Leukemia, acute myeloid
6RET, MEN2AMultiple endocrine neoplasia IIA
Medullary thyroid carcinoma
Multiple endocrine neoplasia IIB
Hirschsprung disease
Central hypoventilation syndrome, congenital
6NOS3Coronary spasms, 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
6MAPT, MTBT1, DDPAC, MSTDDementia, frontotemporal, with or without parkinsonism
Pick disease
Supranuclear palsy, progressive
Supranuclear palsy, progressive atypical
Parkinson disease
Tauopathy and respiratory failure
6MC1RUV-induced skin damage, susceptibility to
Red hair/fair skin
Analgesia from kappa-opioid receptor agonist, female-specific
Oculocutaneous albinism, type II, modifier of
Melanoma, susceptiblity to
Blond/light brown hair and/or fair skin
6JAK2Polycythemia vera
Thrombocythemia, essential
Myelofibrosis, idiopathic
Budd-Chiari syndrome
Leukemia, acute myelogenous
Myeloproliferative disorder with erythrocytosis
6IFNG, IFG, IFIInterferon, immune, deficiency
TSC2 angiomyolipomas, renal, modifier of
Tuberculosis, susceptibility to
Aplastic anemia
AIDS, rapid progression to
Hepatitis C virus, resistance to
6HOXD13, HOX4I, SPD, BDSDSynpolydactyly, type II
Brachydactyly, type E
Brachydactyly, type D
Synpolydactyly with foot anomalies
Syndactyly, type V
Brachydactyly-syndactyly syndrome
6KRT1Epidermolytic hyperkeratosis
Cyclic ichthyosis with epidermolytic hyperkeratosis
Keratosis palmoplantaria striata
Ichthyosis histrix, Curth-Macklin type
Unna-Thost disease, nonepidermolytic
Keratosis palmoplantaris striata III
6GH1, GHNGrowth hormone deficiency
Growth hormone deficiency, isolated, type IA
Growth hormone deficiency, isolated, type IB
Growth hormone deficiency, isolated, type II
Kowarski syndrome
Short stature, familial
6FBN1, MFS1, WMSMarfan syndrome
Shprintzen-Goldberg syndrome
Ectopia lentis, familial
MASS syndrome
Weill-Marchesani syndrome, dominant
Aortic aneurysm, ascending, and dissection
6ESR1, ESRBreast cancer
Estrogen resistance
HDL response to hormone replacement, augmented
Migraine, susceptibility to
Atherosclerosis, susceptibility to
Myocardial infarction, susceptibility to
6ACE, DCP1, ACE1Myocardial infarction, susceptibility to
Alzheimer disease, susceptibility to
Diabetic nephropathy, susceptibility to
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
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, ATFB1, SQT2Long QT syndrome-1
Jervell and Lange-Nielsen syndrome
Atrial fibrillation, familial
Torsades de pointes, drug-associated
Short QT syndrome-2
5WT1Wilms tumor, type 1
Denys-Drash syndrome
Mesangial sclerosis, isolated diffuse
WAGR syndrome
Frasier syndrome
5SLC26A2, DTD, DTDST, D5S1708, EDM4Diastrophic dysplasia
Atelosteogenesis II
Achondrogenesis Ib
Epiphyseal dysplasia, multiple, 4
Diastrophic dysplasia, broad bone-platyspondylic variant
5GBAGaucher disease, type I
Gaucher disease, type II
Gaucher disease, type III
Gaucher disease, type IIIC
Gaucher disease, perinatal lethal
5CHEK2, RAD53, CHK2, CDS1, LFS2Li-Fraumeni syndrome
Osteosarcoma, somatic
Breast cancer, susceptibility to
Prostate cancer, familial
Breast and colorectal cancer, susceptibility to
5FLNB, SCT, AOI, LRS1Spondylocarpotarsal synostosis syndrome
Larson syndrome
Atelostogenesis, type I
Atelosteogenesis, type III
Boomerang dysplasia
5TSHRHypothyroidism, congenital, nongoitrous, 1 275200
Thyroid adenoma, hyperfunctioning, somatic
Hyperthyroidism, nonautoimmune
Thyroid carcinoma with thyrotoxicosis
Hyperthyroidism, familial gestational
5SDHD, PGL1Paragangliomas, familial nonchromaffin, 1, with or without deafness
Carcinoid tumors, intestinal
Merkel cell carcinoma, somatic
Paraganglioma and gastric stromal sarcoma
5CFTR, ABCC7, CF, MRP7Cystic fibrosis
Congenital bilateral absence of vas deferens
Sweat chloride elevation without CF
Pancreatitis, idiopathic
Hypertrypsinemia, neonatal
5FOXC2, FKHL14, MFH1Lymphedema-distichiasis syndrome
Lymphedema, hereditary II
Yellow nail syndrome
Lymphedema and ptosis
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
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
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
5FOXC1, FKHL7, FREAC3Iridogoniodysgenesis
Anterior segment mesenchymal dysgenesis
Rieger anomaly
Axenfeld anomaly
Iris hypoplasia and glaucoma
Salivary adenoma
Uterine leiomyoma
Lipomatosis, multiple
Stature quantitative trait locus 9
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,
5TNF, TNFAMalaria, cerebral, susceptibility to
Septic shock, susceptibility to
Asthma, susceptibility to
Dementia, vascular, susceptibility to
Migraine without aura, susceptibility to
5TTN, CMD1G, TMD, LGMD2J, MPRM, HMERFCardiomyopathy, familial hypertrophic, 9
Cardiomyopathy, dilated, 1G
Tibial muscular dystrophy, tardive
Muscular dystrophy, limb-girdle, type 2J
Myopathy, proximal, with early respiratory muscle involvement
5PRKAR1A, TSE1, CNC1, CAR, PPNAD1Carney complex, type 1
Myxoma, intracardiac
Thyroid carcinoma, papillary
Pigmented adrenocortical disease, primary, 1
Adrenocortical tumor, somatic
5RLBP1Retinitis pigmentosa, AR
Fundus albipunctatus
Retinitis punctata albescens
Newfoundland rod-cone dystrophy
Bothnia retinal dystrophy
5PRNP, PRIPCreutzfeldt-Jakob disease
Gerstmann-Straussler disease
Insomnia, fatal familial
Prion disease with protracted course
Huntington disease-like 1
5CD36, CHDS7Macrothrombocytopenia
Platelet glycoprotein IV deficiency
Malaria, cerebral, susceptibility to
Malaria, cerebral, reduced risk of
Coronary heart disease, susceptibility to, 7
5GLI3, PAPA, PAPB, ACLSGreig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly, preaxial, type IV
Polydactyly, postaxial, types A1 and B
Acrocallosal syndrome
5BRAFMelanoma, melignant, somatic
Colorectal cancer, somatic
Adenocarcinoma of lung, somatic
Nonsmall cell lung cancer, somatic
Cardiofaciocutaneous syndrome
5LHCGRPrecocious puberty, male
Pseudohermaphroditism, male, with Leydig cell hypoplasia
Hypogonadotropic hypogonadism
Leydig cell adenoma, with precocious puberty
5IRF1, MARMacrocytic anemia, refractory, of 5q- syndrome
Myelodysplastic syndrome, preleukemic
Myelogenous leukemia, acute
Gastric cancer
Nonsmall cell lung cancer
5HBA2Thalassemia, alpha-
Heinz body anemia
Hemoglobin H disease
Hypochromic microcytic anemia
Diabetes mellitus, noninsulin-dependent, late onset
Diabetes mellitus, gestational
Hyperinsulinemic hypoglycemia, familial, 3
Diabetes mellitus, permanent neonatal
5HF1, CFH, HUS, ARMD4Hemolytic-uremic syndrome
Factor H and factor H-like 1
Membranoproliferative glomerulonephritis with CFH deficiency
Macular degeneration, age-related, 4
Complement factor H deficiency
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
5COL1A2Osteogenesis imperfecta, 3 clinical forms, 166200, 166210
Ehlers-Danlos syndrome, type VIIB
Osteoporosis, postmenopausal
Marfan syndrome, atypical
Ehlers-Danlos syndrome, cardiac valvular form
5CTNNB1Colorectal cancer
Ovarian carcinoma, endometrioid type
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
5APOE, AD2Hyperlipoproteinemia, type III
Myocardial infarction susceptibility
Sea-blue histiocyte disease
Alzheimer disease-2
Macular degeneration, age-related
5APOA1ApoA-I and apoC-III deficiency, combined
Hypertriglyceridemia, one form
Corneal clouding, autosomal recessive
Amyloidosis, 3 or more types
4GLB1GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
Morquio syndrome B
4OCA2, P, PED, D15S12, BOCA, EYCL3Albinism, oculocutaneous, type II
Albinism, brown oculocutaneous
Eye color 3, blue/nonblue
Hair color 3, fair/brown
4CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis, type X
Meckel syndrome type 4
4ERCC6, CKN2, COFS1, CSB, ARMD5Cockayne syndrome, type B
Cerebrooculofacioskeletal syndrome 1
De Sanctis-Cacchione syndrome
Macular degeneration, age-related, susceptibility to 5
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
4TYRAlbinism, oculocutaneous, type IA
Waardenburg syndrome/albinism, digenic
Albinism, oculocutaneous, type IB
Skin pigmentation, variation in
4TPO, TPXThyroid hormone organification defect IIA
Goiter, congenital
Hyperthyroidism, congenital
Total iodide organification defect
4NSD1, ARA267, STOSotos syndrome
Leukemia, acute myeloid
Weaver syndrome
Beckwith-Wiedemann syndrome
4GDAP1, CMT4A, CMT2K, CMT2GCharcot-Marie-Tooth disease, type 4A
Charcot-Marie-Tooth disease, type 2G
Charcot-Marie-Tooth disease, type 2K
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type
4PAX3, WS1, HUP2, CDHSWaardenburg syndrome, type I
Waardenburg syndrome, type III
Rhabdomyosarcoma, alveolar
Craniofacial-deafness-hand syndrome
4FKRP, MDC1C, LGMD2IMuscular dystrophy, congenital, 1C
Muscular dystrophy, limb-girdle, type 2I
Muscle-eye-brain disease
Walker-Warburg syndrome
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
4WFS1, WFRS, WFS, DFNA6Wolfram syndrome
Hearing loss, low-frequency sensorineural
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
4LMBR1, ACHP, C7orf2, PPD2Acheiropody
Polydactyly, preaxial type II
Triphalangeal thumb, type I
Triphalangeal thumb-polysyndactyly syndrome
4BCS1L, FLNMS, GRACILE, BJS, PTDMitochondrial complex III deficiency
GRACILE syndrome
Leigh syndrome
Bjornstad syndrome
4GJB3, CX31, DFNA2Erythrokeratodermia variabilis
Deafness, autosomal dominant 2
Deafness, autosomal recessive
Deafness, autosomal dominant, with peripheral neuropathy
4TLR4, ARMD10Endotoxin hyporesponsiveness
Macular degeneration, age-related, 10
Longevity, susceptibility to
Colorectal cancer, susceptibility to
4NOG, SYM1, SYNS1Symphalangism, proximal
Synostoses syndrome, multiple, 1
Tarsal-carpal coalition syndrome
Stapes ankylosis syndrome without symphalangism
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
4SOX10, WS4, WS2EWaardenburg-Shah syndrome
Yemenite deaf-blind hypopigmentation syndrome
Waardenburg syndrome, type IIE
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
4PTCH1, NBCCS, BCNS, HPE7Basal cell nevus syndrome
Basal cell carcinoma, somatic
Medulloblastoma, somatic
4CASR, HHC1, PCAR1, FIHHypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
4CACNA1A, CACNL1A4, SCA6Hemiplegic migraine, familial
Episodic ataxia, type 2
Spinocerebellar ataxia-6
Cerebellar ataxia, pure
4GHRLaron dwarfism
Short stature, idiopathic
Short stature, autosomal dominant, with normal serum growth hormone binding protein
Increased responsiveness to growth hormone
4KCNJ11, BIR, PHHI, HHF2, TNDM3Hyperinsulinemic hypoglycemia, familial, 2
Diabetes, permanent neonatal
Diabetes mellitus, permanent neonatal, with neurologic features, 606176, Diabetes mellitus, type 2, susceptibility to}
Diabetes mellitus, transient neonatal, 3
4HADHA, MTPALCHAD deficiency
Trifunctional protein deficiency, type 1
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
4MSH6, GTBP, HNPCC5Cancer susceptibility
Endometrial carcinoma
Colorectal cancer, hereditary nonpolyposis, type 5
Ovarian cancer, endometrial type
4HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7Ectodermal dysplasia, Margarita Island type
Zlotogora-Ogur syndrome
Cleft lip/palate ectodermal dysplasia syndrome
Orofacial cleft 7
4CLCN2, EGMA, ECA3, EGI3Epilepsy with grand mal seizures on awakening
Epilepsy, juvenile myoclonic
Epilepsy, childhood absence
Epilepsy, juvenile absence
4SMN1, SMA1, SMA2, SMA3, SMA4Spinal muscular atrophy-1
Spinal muscular atrophy-2
Spinal muscular atrophy-3
Spinal muscular atrophy-4
4PRPS1, CMTX5Gout, PRPS-related
Phosphoribosylpyrophosphate synthetase superactivity
Charcot-Marie-Tooth disease, X-linked recessive, 5
Arts syndrome
4GATA1, GF1, ERYF1, NFE1Dyserythropoietic anemia with thrombocytopenia
Leukemia, megakaryoblastic, with or without Down syndrome
Leukemia, megakaryoblastic, of Down syndrome
4TAZ, EFE2, BTHS, CMD3A, LVNCXEndocardial fibroelastosis-2
Barth syndrome
Cardiomyopathy, dilated, 3A
Noncompaction of left ventricular myocardium, isolated
4WAS, IMD2, THCWiskott-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
4F5Hemorrhagic diathesis due to factor V deficiency
Thromboembolism susceptibility due to factor V Leiden
Thrombophilia due to factor V Liverpool
Budd-Chiari syndrome
4UGT1A1, UGT1, GNT1Crigler-Najjar syndrome, type I
Gilbert syndrome
Crigler-Najjar syndrome, type II
Hyperbilirubinemia, familial transcient neonatal
4TCF2, HNF2, MODY5, FJHNRenal cysts and diabetes syndrome
Diabetes mellitus, noninsulin-dependent
Prostate cancer, susceptibility to
Diabetes, type 2, protection against
4TG, AITD3Hypothyroidism, hereditary congenital
Goiter, adolescent multinodular
Goiter, nonendemic, simple
Autoimmune thyroid disease, susceptibility to 3
Bladder cancer
Pinealoma with bilateral retinoblastoma
4TTR, PALBAmyloid neuropathy, familial, several allelic types
Dystransthyretinemic hyperthyroxinemia
Amyloidosis, senile systemic
Carpal tunnel syndrome, familial
4POLG, POLG1, POLGA, PEO, SANDO, SCAEProgressive external ophthalmoplegia with mitochondrial DNA deletions
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Alpers syndrome
Spinocerebellar ataxia with epilepsy
4PLGPlasminogen Tochigi disease
Thrombophilia, dysplasminogenemic
Plasminogen deficiency, types I and II
Conjunctivitis, ligneous
4ENPP1, PDNP1, NPPS, M6S1, PCA1Ossification of posterior longitudinal ligament of spine
Diabetes mellitus, non-insulin-dependent, susceptibility to
Obesity, susceptibility to
Arterial calcification, generalized, of infancy
4PTHR1, PTHRMetaphyseal chondrodysplasia, Murk Jansen type
Enchondromatosis, Ollier type
Chondrodysplasia, Blomstrand type
Eiken syndrome
4ERBB2, NGL, NEU, HER2Adenocarcinoma of lung, somatic
Glioblastoma, somatic
Gastric cancer, somatic
Ovarian cancer, somatic,
4AKT1Breast cancer, somatic
Colorectal cancer, somatic
Ovarian cancer, somatic
Schizophrenia, susceptibility to
4MYH7, CMH1, MPD1, CMD1SCardiomyopathy, familial hypertrophic, 1
Cardiomyopathy, dilated, 1S
Myopathy, myosin storage
Myopathy, Laing distal
4CCL2, SCYA2, MCP1, MCAFHIV-1, resistance to
Spina bifida, susceptiblity 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
4MBL2, MBL, MBP1Mannose-binding protein deficiency
Diabetes mellitus, gestational, susceptibility to
Meningococcal disease, susceptibility to
Chronic infections, due to MBL deficiency
4KRT14Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760
Epidermolysis bullosa simplex, recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
4INSR, HHF5Leprechaunism
Rabson-Mendenhall syndrome
Diabetes mellitus, insulin-resistant, with acanthosis nigricans
Hyperinsulinemic hypoglycemia, familial, 5
4MSX1, HOX7, HYD1, OFC5Hypodontia, autosomal dominant
Hypodontia with orofacial cleft
Witkop syndrome
Cleft lip/palate, nonsyndromic
4HLA-DR1BPemphigoid, susceptibility to
Sarcoidosis, susceptibility to
Multiple sclerosis, susceptibility to
Rheumatoid arthritis, susceptibility to
Diabetes mellitus, noninsulin-dependent, 2
Diabetes mellitus, insulin-dependent
Hepatic adenoma
4HBA1Thalassemias, alpha-
Methemoglobinemias, alpha-
Erythremias, alpha-
Heinz body anemias, alpha-
4GABRG2, GEFSP3, CAE2, ECA2Epilepsy, generalized, with febrile seizures plus, type 3
Epilepsy, childhood absence, 2
Febrile convulsions, familial, 8
Myoclonic epilepsy, severe, of infancy
4FSHR, ODG1Ovarian dysgenesis 1
Ovarian sex cord tumors
Ovarian response to FSH stimulation
Ovarian hyperstimulation syndrome
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
4DRD4Autonomic nervous system dysfunction
Novelty seeking personality
Attention deficit-hyperactivity disorder
Parkinson disease, protection against
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
4PORAntley-Bixler syndrome-like with disordered steroidogenesis
Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency
POR deficiency
Disordered steroidogenesis, isolated
4CTLA4, IDDM12, CELIAC3Graves disease, susceptibility to
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
4GJA1, CX43, ODDD, SDTY3, ODODOculodentodigital dysplasia
Syndactyly, type III
Hypoplastic left heart syndrome
Atrioventricular septal defect
4CR1, C3BRCR1 deficiency
SLE susceptibility
Blood group, Knops system
Malaria, severe, resistance to
4MLH1, COCA2, HNPCC2Colorectal cancer, hereditary nonpolyposis, type 2
Turcot syndrome with glioblastoma
Muir-Torre syndrome
Cafe-au-lait spots with glioma or leukemia
4COL11A2, STL3, DFNA13Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Deafness, autosomal dominant 13
4CETP, HDLCQ10CETP deficiency
Longevity, exceptional
High density lipoprotein cholesterol level QTL 10
4BRCA1, PSCPBreast cancer-1
Ovarian cancer
Breast-ovarian cancer
Papillary serous carcinoma of the peritoneum
4IFNGR1Mycobacterial infection, atypical, familial disseminated
BCG infection, generalized familial
H. pylori infection, susceptibility to
Tuberculosis, susceptibility to
4PI, AAT, SERPINA1Emphysema-cirrhosis
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 disporportion 1
3LPL, LIPD, HDLCQ11Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
High density lipoprotein cholesterol level QTL 11
3DBHDopamine-beta-hydroxylase activity levels, plasma
Parkinson disease, resistance to
Dopamine beta-hydroxylase deficiency
3PEX26Adrenoleukodystrophy, neonatal
Refsum disease, infantile form
Zellweger syndrome
3SOX9, CMD1, SRA1Campomelic dysplasia with autosomal sex reversal
Acampomelic campomelic dysplasia
Campomelic dysplasia
3BEST1, VMD2Macular dystrophy, vitelliform type
Maculopathy, bull's-eye
Vitelliform macular dystrophy, adult-onset
3LEMD3, MAN1Osteopoikilosis
Buschke-Ollendorff syndrome
Melorheostosis with osteopoikilosis
3POMT1Walker-Warburg syndrome
Muscular dystrophy, limb-girdle, type 2K
Muscular dystrophy, congenital, plus mental retardation
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, 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
3GP1BABernard-Soulier syndrome, type A
von Willebrand disease, platelet-type
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
3ENAM, AIH2Amelogenesis imperfecta 2, hypoplastic local
Amelogenesis imperfecta, hypoplastic, and openbite malocclusion
Hypoplastic enamel pitting, localized
3CIAS1, 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
3LDB3, ZASP, CYPHER, KIAA01613Myopathy, myofibrillar, ZASP-related
Cardiomyopathy, dilated
Cardiomyopathy, dilated, with left ventricular noncompaction
3FOXL2, BPES, BPES1, PFRK, POF3Blepharophimosis, epicanthus inversus, and ptosis, type 1
Blepharophimosis, epicanthus inversus, and ptosis, type 2
Premature ovarian failure 3
3CDH23, USH1D, USH1HUsher syndrome, type 1D
Deafness, autosomal recessive 12
Usher syndrome, type 1H
3PCDH15, DFNB23, USH1HUsher syndrome, type 1F
Deafness, autosomal recessive 23
Usher syndrome, type 1H
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
3MUTYH, MYHAdenomas, multiple colorectal
Gastric cancer, somatic
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
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
3GJB6, CX30, DFNA3, HED, ED2Deafness, autosomal dominant 3
Ectodermal dysplasia 2, hidrotic
Deafness, nonsyndromic neurosensory, digenic
3AIPL1, LCA4Leber congenital amaurosis
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 VIII
Pigmented paravenous chorioretinal atrophy
3TTID, MYOTMuscular dystrophy, limb-girdle, type 1A
Myopathy, spheroid body
3SEPT9, MSF, MSF1, NAPBLeukemia, acute myeloid, therapy-related
Ovarian carcinoma
Amyotrophy, hereditary neuralgic
3PMX2B, NBPHOX, PHOX2BCentral hypoventilation syndrome, congenital
Hirschsprung disease, short-segment
Inclusion body myopathy, autosomal recessive
Nonaka myopathy
3RECQL4, RTS, RECQ4Rothmund-Thomson syndrome
Baller-Gerold syndrome
3RAD54L, HR54, HRAD54Lymphoma, non-Hodgkin
Breast cancer, invasive intraductal
Colon adenocarcinoma
3PLA2G6, IPLA2, INAD1Infantile neuroaxonal dystrophy 1
Neurodegeneration with brain iron accumulation
Karak syndrome
3SCN9A, NENA, PN1Erythermalgia, primary
Insensitivity to pain, channelopathy-associated
Paroxysmal extreme pain disorder
3TLR5, TIL3, SLEB1Legionaire disease, susceptibility to
Systemic lupus erythematosus, resistance to
Systemic lupus erythematosus, susceptibility to, 1
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
3SLC22A1L, BWSCR1A, IMPT1Breast cancer
Lung cancer
3TECTA, DFNA8, DFNA12, DFNB21Deafness, autosomal dominant 8
Deafness, autosomal dominant 12
Deafness, autosomal recessive 21
3CTSC, CPPI, PALS, PLS, HMS, JPDPapillon-Lefevre syndrome
Haim-Munk syndrome
Periodontitis, juvenile
3CRX, CORD2, CRD, LCA7Cone-rod retinal dystrophy-2
Leber congenital amaurosis VII
Retinitis pigmentosa, late-onset dominant
3SNAI2, SLUG, WS2DWaardenburg syndrome, type IID
Melanoma metastasis, modification of
3PEX1, ZWS1Zellweger syndrome-1
Adrenoleukodystrophy, neonatal
Refsum disease, infantile
3MATN3, EDM5, HOAEpiphyseal dysplasia, multiple, 5
Osteoarthritis, hand, susceptibility to
Spondyloepimetaphyseal dysplasia
3TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCRConotruncal anomaly face syndrome
DiGeorge syndrome
Velocardiofacial syndrome
3CACNB4, EJM, EA5Epilepsy, juvenile myoclonic
Epilepsy, generalized idiopathic
Episodic ataxia, type 5
3JAG1, AGS, AHDAlagille syndrome
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
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
3MYOC, TIGR, GLC1A, JOAG, GPOAGlaucoma 1A, primary open angle, juvenile-onset
Glaucoma 1A, primary open angle, recessive
Glaucoma, early-onset, digenic
3PITX2, IDG2, RIEG1, RGS, IGDS2Rieger syndrome
Iridogoniodysgenesis syndrome-2
Ring dermoid of cornea
3BMPR1A, ACVRLK3, ALK3Polyposis, juvenile intestinal
Polyposis syndrome, hereditary mixed, 2
Juvenile polyposis syndrome, infantile form
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
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
3IPF1Pancreatic agenesis
MODY, type IV
Diabetes mellitus, type II, susceptibility to
3PTPN22, PEP, PTPN8, LYPDiabetes mellitus, insulin-dependent, susceptibility to
Rheumatoid arthritis, susceptibility to
Systemic lupus erythematosus, susceptibility to
3CPT2Myopathy due to CPT II deficiency
CPT deficiency, hepatic, type II
CPT II deficiency, lethal neonatal
3TITF1, NKX2A, TTF1Goiter, familial, due to TTF-1 defect
Chorea, hereditary benign
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
3NKX2E, CSXAtrial septal defect with atrioventricular conduction defects
Tetrology of Fallot
Atrioventricular block, idiopathic second-degree
3GCNT2Blood group, Ii
Adult i phenotype with congenital cataract
Adult i phenotype without cataract
3PMS2, PMSL2, HNPCC4Turcot syndrome with glioblastoma
Colorectal cancer, hereditary nonpolyposis, type 4
Neuroectodermal tumors, supratentorial primitive, with cafe-au-lait spots
3TBP, SCA17Spinocerebellar ataxia 17
Parkinson disease
Huntington disease-like-4
3ABCA1, ABC1, HDLDT1, TGDTangier disease
HDL deficiency, familial
Coronary artery disease in familial hypercholesterolemia, protection against
3MHC2TA, C2TABare lymphocyte syndrome, type II, complementation group A
Rheumatoid arthritis, susceptibility to
Multiple sclerosis, susceptibility to
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
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
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, MRXS3, SHS, SFM1, MRXHF1Alpha-thalassemia/mental retardation syndrome
Alpha-thalassemia myelodysplasia syndrome, somatic
Mental retardation-hypotonic facies syndrome, X-linked
3ATP7A, MNK, MK, OHSMenkes disease
Occipital horn syndrome
Cutis laxa, neonatal
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
3KNGKininogen deficiency
High-molecular-weight kininogen deficiency
Fitzgerald factor deficiency
3DHSDehydrated hereditary stomatocytosis
Pseudohyperkalemia, familial
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
3UMOD, HNFJ, FJHN, MCKD2, ADMCKD2Hyperuricemic nephropathy, familial juvenile
Medullary cystic kidney disease 2
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
3TGM1, ICR2, LI1Ichthyosis, lamellar, autosomal recessive
Ichthyosiform erythroderma, congenital
Self-healing collodion baby
3TGFBR1, ALK5, AAT5Loeys-Dietz syndrome
Furlong syndrome
Aortic aneurysm, familial thoracic 5
3PDGFB, SISMeningioma, SIS-related
Dermatofibrosarcoma protuberans
Giant-cell fibroblastoma
3HRASBladder cancer, somatic
Costello syndrome
Thyroid carcinoma, follicular, somatic
3TERT, TCS1, EST2Aplastic anemia, susceptibility to
Pulmonary fibrosis,idiopathic, susceptibility to
Dyskeratosis congenita
3SDHB, SDH1, SDHIP, PGL4Paraganglioma, familial chromaffin, 4
Paraganglioma and gastric stromal sarcoma
Anemia, neonatal hemolytic, fatal and near-fatal
Spherocytosis, recessive
3ATP1A2, FHM2, MHP2Migraine, familial hemiplegic, 2
Alternating hemiplegia of childhood
Migraine, familial basilar
3RHO, RP4, OPN2Retinitis pigmentosa-4, autosomal dominant
Retinitis pigmentosa, autosomal recessive
Night blindness, congenital stationery, rhodopsin-related
3RAG1Severe combined immunodeficiency, B cell-negative
Omenn syndrome, 603554
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
3PTPN11, PTP2C, SHP2, NS1Noonan syndrome 1
Leopard syndrome
Leukemia, juvenile myelomonocytic
3POMCACTH deficiency
Obesity, adrenal insufficiency, and red hair
Abdominal body fat distribution, modifier of
3PSAP, SAP1Metachromatic leukodystrophy due to deficiency of SAP-1
Gaucher disease, atypical
Combined SAP deficiency
3INSDiabetes mellitus, rare form
MODY, one form
Hyperproinsulinemia, familial
3ALPL, HOPS, TNSALPHypophosphatasia, infantile
Hypophosphatasia, childhood
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
3MET, AUTS9Renal cell carcinoma, papillary, familial and sporadic
Hepatocellular carcinoma, childhood type
Autism, suseptibility to, 9
3SNCA, NACP, PARK1, PARK4Parkinson disease, familial
Parkinson disease 4, autosomal dominant Lewy body
Dementia, Lewy body
3IL12B, NKSF2BCG and salmonella infection, disseminated
Asthma, susceptibility to
Psoriasis, susceptibility to
3NDUFV1, UQOR1Leigh syndrome
Alexander disease
Mitochondrial complex I deficiency
3RMRP, RMRPR, CHHCartilage-hair hypoplasia
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia
3MITF, WS2AWaardenburg syndrome, type IIA
Waardenburg syndrome/ocular albinism, digenic
Tietz syndrome
3KCNH2, LQT2, HERG, SQT1Long QT syndrome-2
Long QT syndrome, acquired, susceptibility to
Short QT syndrome-1
3PTPRC, CD45, LCAMultiple sclerosis, susceptibility to
Severe combined immunodeficiency due to PTPRC deficiency
Hepatitic C virus, susceptibility to
3RUNX1, CBFA2, AML1Leukemia, acute myeloid
Platelet disorder, familial, with associated myeloid malignancy
Rheumatoid arthritis, susceptibility to
3KRT10Epidermolytic hyperkeratosis
Nevus, epidermal, epidermolytic hyperkeratotic type
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
3KRT16Pachyonychia congenita, Jadassohn-Lewandowsky type
Palmoplantar keratoderma, nonepidermolytic
Palmoplantar verrucous nevus, unilateral
3KRT5, DDDEpidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease
3ITGB4Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa of hands and feet
3FCGR3A, CD16, IGFR3Lupus erythematosus, systemic, susceptibility
Neutropenia, alloimmune neonatal
Viral infections, recurrent
3HLA-B, SPDA1Spondyloarthropathy, susceptibility to, 1
Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to
Abacavir hypersensitivity, susceptibility to
3HLA-AAnkylosing spondylitis, susceptibility to, 1
Stevens-Johnson syndrome, susceptibility to
Abacavir hypersensitivity, susceptibility to
3RASA1, GAP, CMAVM, PKWSBasal cell carcinoma, somatic
Parkes Weber syndrome
Capillary malformation-arteriovenous malformation
3GLRA1, STHEStartle disease/hyperekplexia, autosomal dominant
Startle disease, autosomal recessive
Hyperekplexia and spastic paraparesis
3FHFumarase deficiency
Multiple cutaneous and uterine leiomyomata
Leiomyomatosis and renal cell cancer
3FLT3Leukemia, acute myeloid, reduced survival in
Leukemia, acute myeloid
Leukemia, acute lymphoblastic
3FGFR1, FLT2, KAL2Pfeiffer syndrome
Jackson-Weiss syndrome
Kallmann syndrome 2
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
3EWSR1, EWSEwing sarcoma
Chondrosarcoma, extraskeletal myxoid
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, ABCDSHirschsprung disease-2
ABCD syndrome
Waardenburg-Shah syndrome
3EDN3Shah-Waardenburg syndrome
Central hypoventilation syndrome, congenital
Hirschsprung disease
3SELE, ELAM1IgA nephropathy, susceptiblity 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
3ERCC2, EM9, XPD, COFS2Xeroderma pigmentosum, group D
Cerebrooculofacioskeletal syndrome 2
3IL10, CSIFHIV-1, susceptibility to
Graft-versus-host disease, protection against
Rheumatoid arthritis, progression of
3CYP2D@, CYP2D, P450C2DParkinsonism, susceptibility to
Debrisoquine sensitivity
Codeine sensitivity
3CYP2C, CYP2C19Mephenytoin poor metabolizer
Opremazole poor metabolizer
Proguanil poor metabolizer
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
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
3COL6A1, OPLLBethlem myopathy
Ullrich congenital muscular dystrophy
Ossification of the posterior longitudinal spinal ligaments
3COL3A1Ehlers-Danlos syndrome, type IV
Ehlers-Danlos syndrome, type III
Aneurysm, familial arterial
3CLCN1Myotonia congenita, recessive
Myotonia congenita, dominant
Myotonia levior, recessive
3CPHypoceruloplasminemia, hereditary
Cerebellar ataxia
Hemosiderosis, systemic, due to aceruloplasminemia
3CACNA1S, CACNL1A3, CCHL1A3Hypokalemic periodic paralysis
Malignant hyperthermia susceptibility 5
Thyrotoxic periodic paralysis, susceptibility to
3ADRB2Asthma, nocturnal, susceptibility to
Obesity, susceptibility to
Beta-2-adrenoreceptor agonist, reduced response to
3CYP19A1, CYP19, AROAromatase deficiency
Aromatase excess syndrome
Pseudohermaphroditism, female, due to placental aromatase deficiency
3APOB, FLDBHypobetalipoproteinemia
Hypobetalipoproteinemia, normotriglyceridemic
Hypercholesterolemia, due to ligand-defective apo B
3AGT, SERPINA8Hypertension, essential, susceptibility to
Preeclampsia, susceptibility to
Renal tubular dysgenesis
3APP, AAA, CVAP, AD1Amyloidosis, cerebroarterial, Dutch type
Alzheimer disease-1, APP-related
Amyloidosis, cerebroarterial, Iowa type
3NAGASchindler disease, type I
Kanzaki disease
Schindler disease, type III
Dysalbuminemic hyperthyroxinemia
Dysalbuminemic hyperzincemia
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
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
2RAXL1, QRX, CORD11, ARMD6Macular degeneration, age-related, 6
Cone-rod dystrophy 11
2PALB2, FANCNFanconi anemia, complementation group N
Breast cancer, susceptibility to
2SLC4A11, BTR1, NABC1, CHED2, CDPDCorneal endothelial dystrophy 2
Corneal endothelial dystrophy and perceptive deafness
2VANGL1, STBM2Caudal regression syndrome
Neural tube defects
2TMEM67, MKS3, JBTS6Meckel syndrome, type 3
Joubert syndrome 6
2HMBS, PBGD, UPSPorphyria, acute intermittent
Porphyria, acute intermittent, nonerythroid variant
2HPDTyrosinemia, type III
2CHMP2B, DMT1, VPS2BDementia, familial, nonspecific
Amyotrophic lateral sclerosis, CHMP2B-related
2ESCO2Roberts syndrome
SC phocomelia syndrome
2CYP17A1, CYP17, P450C1717-alpha-hydroxylase/17,20-lyase deficiency
17,20-lyase deficiency, isolated
2ERMAP, SC, RDBlood group, Scianna system
Blood group, Radin
2ADASevere combined immunodeficiency due to ADA deficiency
Adenosine deaminase deficiency, partial
2CHD7, IS3CHARGE syndrome
Scoliosis, idiopathic 3
2ARL6, BBS3Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1, modifier of
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
2USH2A, RP39Usher syndrome, type 2A
Retinitis pigmentosa-39
2NEU1, NEU, SIAL1Sialidosis, type I
Sialidosis, type II
2EXT1Exostoses, multiple, type 1
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
2GNPTAB, GNPTAMucolipidosis IIIA
Mucolipidosis II
2CLN8, EPMRCeroid lipofuscinosis, neuronal 8
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
2ABCA12, ICR2B, LI2Ichthyosis, lamellar 2
Ichthyosis, harlequin
2PHF11, NYREN34IgE levels QTL
2ITGA2B, GP2B, CD41BGlanzmann thrombasthenia, type A
Thrombocytopenia, neonatal alloimmune
2SARA2, SAR1B, CMRDAnderson disease
Chylomicron retention disease
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
2MGR6, FHM3Migraine, familial hemiplegic
Migraine with or without aura, susceptibility to
2DYM, FLJ90130, DMC, SMCDyggve-Melchior-Clausen disease
Smith-McCort dysplasia
2FKTN, FCMDMuscular dystrophy, Fukuyama congenital
Walker-Warburg syndrome
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
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
2LCATNorum disease
Fish-eye disease
2IRAK4, REN64, IPD1IRAK4 deficiency
Invasive pneumococcal disease, recurrent isolated, 1
2HEXBSandhoff disease, infantile, juvenile, and adult forms
Spinal muscular atrophy, juvenile
2FXN, FRDA, FARR, X25Friedreich ataxia
Friedreich ataxia with retained reflexes
2PRODH, PRODH2, SCZD4Hyperprolinemia, type I
Schizophrenia, susceptibility to, 4 600850
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
2OPA3, MGA33-methylglutaconic aciduria, type III
Optic atrophy and cataract
2ZMPSTE24, FACE1, STE24, MADBMandibuloacral dysplasia with type B lipodystrophy
Restrictive dermopathy, lethal
2HAMP, LEAP1, HEPC, HFE2Hemochromatosis, juvenile
Hemochromatosis, juvenile, digenic
2EIF2B2Leukoencephalopathy with vanishing white matter
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
2SHANK3, PSAP2, PROSAP2, KIAA1650Chromosome 22q13.3 deletion syndrome
Autism, chromosome 22q13.3 deletion syndrome-related
2SLC45A2, MATP, AIM1Oculocutaneous albinism, type IV
Skin pigmentation, variation in
2PANK2, NBIA1, PKAN, HARPNeurodegeneration, pantothenate kinase-associated
HARP syndrome
2C10orf2, TWINKLE, PEO1, PEOA3, SANDOProgressive external ophthalmoplegia with mitochondrial DNA deletions
Sensory ataxia neuropathy, dysarthria, and ophthalmoparesis
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
2SOST, VBCHSclerosteosis
Van Buchem disease
2VAPB, VAPC, ALS8Amyotrophic lateral sclerosis 8
Spinal muscular atrophy, late-onset, Finkel type
2SLC26A4, PDS, DFNB4Pendred syndrome
Enlarged vestibular aqueduct
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
2RPGRIP1, LCA6, CORD9Leber congenital amaurosis VI
Cone-rod dystrophy 9
2IL21RLymphoma, diffuse large B-cell
IgE, elevated level of
2USH1C, DFNB18Usher syndrome, type 1C
Deafness, autosomal recessive 18
2DISC1, SCZD9Schizophrenia, susceptibility to
Schizoaffective disorder, susceptibility to
2ANKH, HANK, ANK, CMDJ, CCAL2, CPPDDCraniometaphyseal dysplasia
Chondrocalcinosis 2
2CNGB3, ACHM3Achromatopsia-3
Macular degeneration, juvenile
2SPINK5, LEKTINetherton syndrome
2TBCE, KCS, KCS1, HRDKenny-Caffey syndrome-1
Hypoparathyroidism-retardation-dysmorphism syndrome
2TNFRSF13B, TACI, CVIDImmunoglobulin A deficiency
Common variable immunodeficiency
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
2KLCoronary artery disease, susceptibility to
Tumoral calcinosis, hyperphosphatemic
2LGI1, EPT, ETL1Epilepsy, partial, with auditory features
Glioblastoma, somatic
2FCGR2B, CD32Systemic lupus erythematosus, susceptibility to
Malaria, resistance to
2PDGFRL, PDGRL, PRLTSHepatocellular cancer
Colorectal cancer
2FZD4, EVR1Exudative vitreoretinopathy
Retinopathy of prematurity
2TCAP, LGMD2G, CMD1NMuscular dystrophy, limb-girdle, type 2G
Cardiomyopathy, dilated, 1N
2NR2E3, PNR, ESCSEnhanced S-cone syndrome
Retinitis pigmentosa-37
2SP110, IFI41, IFI75, VODIHepatic venoocclusive disease with immunodeficiency
Mycobacterium tuberculosis, susceptibility to
2FACL6, ACS2Myelodysplastic syndrome
Myelogenous leukemia, acute
2MLH3, HNPCC7Colorectal cancer, somatic
Colon cancer, hereditary nonpolypopsis, type 7
2TRPS1Trichorhinophalangeal syndrome, type I
Trichorhinophalangeal syndrome, type III
2DNAI1, CILD1, ICS, PCDCiliary dyskinesia, primary, 1
Kartagener syndrome
2SLC17A5, SIASD, SLDSalla disease
Sialic acid storage disorder, infantile
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
2SLC22A4, OCTN1Rheumatoid arthritis, susceptibility to
Crohn disease, susceptibility to
2SLC7A9, CSNU3Cystinuria, type III
Cystinuria, type II
2EDAR, DL, ED3, EDA3Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal recessive
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
2GPH, 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, LQT6Long QT syndrome-6
Atrial fibrillation, familial
2ALOX5AP, FLAPMyocardial infarction, susceptibility to
Stroke, susceptibility to
2ZFPM2, FOG2, DIH3Tetralogy of Fallot
Diaphragmatic hernia 3
Basal cell carcinoma, somatic
2COX15Cardiomyopathy, hypertrophic, early-onset fatal
Leigh syndrome due to cytochrome c oxidase deficiency
2LARGE, KIAA0609, MDC1DMuscular dystrophy, congenital, type 1D
Walker-Warburg syndrome
2EYA4, DFNA10, CMD1JDeafness, autosomal dominant 10
Cardiomyopathy, dilated, 1J
2TNFRSF11A, RANK, ODFR, OFEOsteolysis, familial expansile
Paget disease of bone
2WISP3, PPAC, PPDArthropathy, progressive pseudorheumatoid, of childhood
Spondyloepiphyseal dysplasia tarda with progressive arthropathy
2DNAH11, DNAHC11Situs inversus viscerum
Kartagener syndrome
2DNAH5, HL1, PCD, CILD3Ciliary dyskinesia, primary, 3 608644
Kartagener syndrome
2ABCC6, ARA, ABC34, MLP1, PXEPseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
2BFSP2, CP49, CP47Cataract, juvenile-onset
Cataract, congenital
2COCH, DFNA9Deafness, autosomal dominant 9
Meniere disease 156000
2B3GALT3, GLCT3, PBlood group, P system
Urinary tract infection, susceptibility to
2TLR2, TIL4Leprosy, susceptibility to
Colorectal cancer, susceptibility to
2CALM, CLTHLeukemia, acute myeloid
Leukemia, acute T-cell lymphoblastic
2PEX10, NALDZellweger syndrome
Adrenoleukodystrophy, neonatal
2MASS1, VLGR1, KIAA0686, FEB4, USH2CConvulsions, familial febrile, 4
Usher syndrome, type IIC
2PRKAG2, WPWS, CMH6Wolff-Parkinson-White syndrome
Cardiomyopathy, hypertrophic 6, with WPW
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
2G6PT1Glycogen storage disease Ib
Glycogen storage disease Ic
2NBS1, NBSNijmegen breakage syndrome
Leukemia, acute lymphoblastic
2TGIF, HPE4Holoprosencephaly-4
Hypotrichosis simplex, contiguous gene syndrome with
2LMX1B, NPS1Nail-patella syndrome
Nail-patella syndrome with open-angle glaucoma
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
2OPTN, GLC1E, FIP2, HYPL, NRPGlaucoma 1, open angle, E
Glaucoma, normal tension, susceptibility to
2SDHC, PGL3Paragangliomas, familial nonchromaffin, 3
Paraganglioma and gastric stromal sarcoma
2AF10Leukemia, acute myeloid
Leukemia, acute T-cell lymphoblastic
2ATP8B1, FIC1, BRIC, PFIC1Cholestasis, progressive familial intrahepatic 1
Cholestasis, benign recurrent intrahepatic
2DNM2, CMTDIB, CMTDI1Charcot-Marie-Tooth disease, dominant intermediate B
Myopathy, centronuclear
2ROR2, BDB1, BDB, NTRKR2Brachydactyly, type B1
Robinow syndrome, autosomal recessive
2TERC, TRC3, TRDyskeratosis congenita, autosomal dominant
Aplastic anemia
2AGRP, ART, AGRTObesity, late-onset
Leanness, inherited
2HR, AUAlopecia universalis
Atrichia with papular lesions
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, type 1
Myokymia with neonatal epilepsy
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
2DMBT1Glioblastoma multiforme, somatic
2RFX5Bare lymphocyte syndrome, type II, complementation group C
Bare lymphocyte syndrome, type II, complementation group E
2LIG4LIG4 syndrome
Multiple myeloma, resistance to
2MCM6Hypolactasia, adult type
Tall stature, susceptibility to
2HESX1, RPXSeptooptic dysplasia
Pituitary hormone deficiency, combined, HESX1-related
2PEX13, ZWS, NALDZellweger syndrome
Adrenoleukodystrophy, neonatal
2VDRRickets, vitamin D-resistant, type IIA
Osteoporosis, involutional
2PEX7, RCDP1Rhizomelic chondrodysplasia punctata, type 1
Refsum disease
2GALNT3, HHS, HFTCTumoral calcinosis, hyperphosphatemic, familial
Hyperostosis-hyperphosphatemia syndrome
2TWIST, ACS3, SCSSaethre-Chotzen syndrome
Saethre-Chotzen syndrome with eyelid anomalies
2HADHSC, SCHAD, HHF43-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
2SMARCB1, SNF5, INI1, RDTRhabdoid tumors
Rhabdoid predisposition syndrome, familial
2RAPSN, CMS1D, CMS1EMyasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
2WNT7AUlna and fibula, absence of, with sever limb deficiency
Fuhrmann syndrome
2PAFAH1B1, LIS1Lissencephaly-1
Subcortical laminar heterotopia
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
2CMKBR5, CCCKR5HIV infection, susceptibility/resistance to
West nile virus, susceptibility to
2PLEC1, PLTN, EBS1Muscular dystrophy with epidermolysis bullosa simplex
Epidermolysis bullosa simplex, Ogna type
2DTNA, D18S892E, DRP3, LVNC1Left ventricular noncompaction with congenital heart defects
Left ventricular noncompaction, familial isolated, 1
2SIX1, BOS3, DFNA23Brachiootic syndrome 3
Deafness, autosomal dominant 23
2CCL11, SCYA11HIV1, resistance to
Asthma, susceptibility to
2DCTN1, HMN7BNeuropathy, distal hereditary motor, type VIIB
Amyotrophic lateral sclerosis, susceptibility to
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, ZNF163Neutropenia, severe congenital
Neutropenia, nonimmune chronic idiopathic, of adults
2SDHA, SDH2, SDHFLeigh syndrome
Mitochondrial respiratory chain complex II deficiency
2SCNN1G, PHA1Liddle syndrome
Pseudohypoaldosteronism, type I
2SCNN1BLiddle syndrome
Pseudohypoaldosteronism, type I
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
2KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3Long QT syndrome-7
Short QT syndrome-3
2XRCC3Melanoma, cutaneous malignant, susceptibility to
Breast cancer, susceptibility to
2FEOM3Fibrosis of extraocular muscles, congenital, 3
Fibrosis, congenital, of vertically acting extraocular muscles
2STAT4Rheumatoid arthritis, association with
Systemic lupus erythematous, association with
2STAT1Mycobacterial infection, atypical, familial disseminated
STAT1 deficiency, complete
2DLX3, TDOTrichodontoosseous 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
2RGRRetinitis pigmentosa, autosomal recessive
Retinitis pigmentosa, autosomal dominant
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
2GCH1, DYT5Phenylketonuria, atypical, due to GCH1 deficiency
Dystonia-5, DOPA-responsive
2RUNX2, CBFA1, PEBP2A1, AML3Cleidocranial dysplasia
Dental anomalies, isolated
2GUCY2D, GUC2D, LCA1, CORD6Leber congenital amaurosis I
Cone-rod dystrophy 6
2SGCA, ADL, DAG2, LGMD2D, DMDA2Muscular dystrophy, limb-girdle, type 2D
Adhalinopathy, primary
2BAXColorectal cancer
T-cell acute lymphoblastic leukemia
2LBR, PHAPelger-Huet anomaly
Greenberg dysplasia
Prostate cancer, susceptibility to
2OPRM1Response to morphine-6-glucuronide
Epilepsy, idiopathic generalized, susceptibility to
2XKMcLeod syndrome
McLeod syndrome with neuroacanthosis
2SOX3, MRGHMental retardation, X-linked, with isolated growth hormone deficiency
Infundibular hypoplasia and hypopituitarism
2VSPATurner syndrome-associated neurocognitive phenotype
Visuospatial/perceptual abilities
2RP2Retinitis pigmentosa-2
Xp11.3 deletion syndrome
2NDP, NDNorrie disease
Exudative vitreoretinopathy, X-linked
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
2STS, ARSC1, ARSC, SSDDIchthyosis, X-linked
Placental steroid sulfatase deficiency
2HPRT1, HPRTLesch-Nyhan syndrome
HPRT-related gout
2F9, HEMBHemophilia B
Warfarin sensitivity
2PHKA2, PHKGlycogenosis, X-linked hepatic, type I
Glycogenosis, X-linked hepatic, type II
2OPN1LW, RCP, CBP, CBBMColorblindness, protan
Blue-cone monochromacy
2OPN1MW, GCP, CBD, CBBMColorblindness, deutan
Blue-cone monochromacy
2GLAFabry disease
Fabry disease, cardiac variant
2FGD1, FGDY, AASAarskog-Scott syndrome
Mental retardation, X-linked nonsyndromic
2AVPR2, DIR, DI1, ADHRDiabetes insipidus, nephrogenic
Nephrogenic syndrome of inappropriate antidiuresis
2OCRL, LOCR, OCRL1, NPHL2Lowe syndrome
Dent syndrome
2FAAP95, FAAP90, FLJ34064, FANCBFanconi anemia, complementation group B
VACTERL association with hydrocephalus, X-linked
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
2ED1, EDA, HEDEctodermal dysplasia-1, anhidrotic
Hypodontia, X-linked
2PLP1, PMDPelizaeus-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
XLA and isolated growth hormone deficiency
2FOXP3, IPEX, AIID, XPID, PIDXImmunodysregulation, polyendocrinopathy, and enteropathy, X-linked
Diabetes mellitus, type I, susceptibility to
2BMP15, GDF9B, ODG2, POF4Ovarian dysgenesis 2
Premature ovarian failure 4
2CDKL5, STK9, ISSXRett syndrome, atypical
Infantile spasm syndrome, X-linked
2OFD1, CXorf5, SGBS2Oral-facial-digital syndrome 1
Simpson-Golabi-Behmel syndrome, type 2
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
2LIPAWolman disease
Cholesteryl ester storage disease
2PRSS1, TRY1Trypsinogen deficiency
Pancreatitis, hereditary
2DPYD, DPDThymine-uraciluria
Fluorouracil toxicity, sensitivity to
2F11Factor XI deficiency, autosomal recessive
Factor XI deficiency, autosomal dominant
2PAH, PKU1Phenylketonuria
Hyperphenylalaninemia, mild
2MVK, MVLKMevalonicaciduria
Hyper-IgD syndrome
2MAT1A, MATA1, SAMS1Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
Methionine adenosyltransferase deficiency, autosomal recessive
2DIA1Methemoglobinemia, type I
Methemoglobinemia, type II
2DLD, LAD, PHE3Maple syrup urine disease, type III
Leigh syndrome
2CBSHomocystinuria, B6-responsive and nonresponsive types
Thrombosis, hyperhomocysteinemic
2HFE, HLA-H, HFE1Hemochromatosis
Porphyria variegata
2KLKB1, KLK3Fletcher factor deficiency
Prekallikrein deficiency
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
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
2MTACR1, WT2Wilms tumor, type 2
Adrenocortical carcinoma, hereditary
2ITGA2, CD49B, BRNeonatal alloimmune thrombocytopenia
Glycoprotein Ia deficiency
2NTRK1, TRKA, MTCInsensitivity to pain, congenital, with anhidrosis
Medullary thyroid carcinoma, familial
2TSC2, LAMTuberous sclerosis-2
Lymphangioleiomyomatosis, somatic
2TNNT2, CMH2, CMD1DCardiomyopathy, familial hypertrophic, 2
Cardiomyopathy, dilated, 1D
2TNNI3, CMH7Cardiomyopathy, familial hypertrophic, 7
Cardiomyopathy, familial restrictive
2TPM2, TMSB, AMCD1, DA1Arthrogryposis multiplex congenita, distal, type 1
Nemaline myopathy
2NOTCH1, TAN1Aortic valve disease
Leukemia, T-cell acute lymphoblastic
2TGFB1, DPD1, CEDCamurati-Engelmann disease
Cystic fibrosis lung disease, modifier of
2THRB, ERBA2, THR1Thyroid hormone resistance
Thyroid hormone resistance, autosomal recessive
Iron deficiency anemia, susceptibility to
2THBD, THRMThrombophilia due to thrombomodulin defect
Myocardial infarction, susceptibility to
2CCL5, SCYA5, D17S136E, TCP228HIV-1 disease, delayed progression of
HIV-1 disease, rapid progression of
2CD4CD4+ lymphocyte deficiency
Lupus erythematosus, susceptibility to
2FTZF1, FTZ1, SF1Sex reversal, XY, with adrenal failure
Adrenocortical insufficiency without ovarian defect
2SOX2, MCOPS3Microphthalmia, syndromic 3
Optic nerve hypoplasia and abnormalities of the central nervous system
2SOS1, GINGF, GF1, HGF, NS4Fibromatosis, gingival
Noonan syndrome 4
2SCN2A1, SCN2ASeizures, afebrile
Seizures, benign familial neonatal-infantile
2SLC34A1, SLC17A2, NPT2Urolithiasis, hypophosphatemic
Osteoporosis, hypophosphatemic,
2SLC6A4, HTT, OCD1Anxiety-related personality traits
Obsessive-compulsive disorder 1
2FUT2, SENorwalk virus infection, resistance to
Bombay phenotype
2RYR2, VTSIP, ARVD2, ARVC2Ventricular tachycardia, stress-induced polymorphic
Arrhythmogenic right ventricular dysplasia 2
2RYR1, MHS, CCOMalignant hyperthermia susceptibility 1
Central core disease
2RHAG, RH50AAnemia, hemolytic, Rh-null, regulator type
Rh-mod syndrome
2PDE6B, PDEB, CSNB3Night blindness, congenital stationary, type 3
Retinitis pigmentosa, autosomal recessive
2RPE65, RP20Leber congenital amaurosis-2
Retinitis pigmentosa-20
Renal tubular dysgenesis
2RAG2Severe combined immunodeficiency, B cell-negative
Omenn syndrome
2MAFCataract, pulverulent, juvenile-onset
Cataract, congenital, cerulean type, 4
2FECH, FCEProtoporphyria, erythropoietic
Protoporphyria, erythropoietic, recessive, with liver failure
2PTPN1, PTP1BInsulin resistance, susceptibility to
Abdominal body fat distribution, modifier of
2PROCThrombophilia due to protein C deficiency
Purpura fulminans, neonatal
2KCNE1, JLNS, LQT5Jervell and Lange-Nielsen syndrome
Long QT syndrome-5
2URODPorphyria cutanea tarda
Porphyria, hepatoerythropoietic
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
2PAI1, PLANH1, SERPINE1Thrombophilia due to excessive plasminogen activator inhibitor
Hemorrhagic diathesis due to PAI1 deficiency
2JUP, DP3, PDGB, ARVD12Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
2MTHFD, MTHFCSpina bifida, folate-sensitive, susceptibility to
Abruptio placentae, susceptibility to
2GPIHemolytic anemia due to glucosephosphate isomerase deficiency
Hydrops fetalis, one form
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
2PON1, PON, ESACoronary artery disease, susceptibility to
Coronary artery spasm, susceptibility to
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
2NRASColorectal cancer
Thyroid carcinoma, follicular
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
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
2NRL, D14S46E, RP27Retinitis pigmentosa-27
Retinal degeneration, autosomal recessive, clumped pigment type
2MYL2, CMH10Cardiomyopathy, hypertrophic, mid-left ventricular chamber type
Cardiomyopathy, familial hypertrophic, 10
2MYH8Carney complex variant
Trismus-pseudocamptodactyly syndrome
2MYH3Arthrogryposis, distal, type 2A
Arthrogryposis, distal, type 2B
2MYH6, ASD3, MYHCACardiomyopathy, familial hypertrophic
Atrial septal defect 3
2MYF6Myopathy, centronuclear
Becker muscular dystrophy modifier
2MPL, TPOR, MPLVThrombocytopenia, congenital amegakaryocytic
Thrombycytosis, susceptibility to
Metabolic syndrome, protection against
2LAMA2, LAMMMuscular dystrophy, congenital merosin-deficient
Muscular dystrophy, congenital, due to partial LAMA2 deficiency
2MGP, NTIKeutel syndrome
Natural teeth remaining intact
2PLOD, PLOD1Ehlers-Danlos syndrome, type VI
Nevo syndrome
2LHBHypogonadism, hypergonadotropic
Male pseudohermaphroditism due to defective LH
2LORVohwinkel syndrome with ichthyosis
Erythrokeratoderma, progressive symmetric
2ALOX5Atherosclerosis, susceptibility to
Asthma, diminished response to antileukotriene treatment in
2LPACoronary artery disease, susceptibility to
LPA deficiency, congenital
2BCR, CML, PHL, ALLLeukemia, chronic myeloid
Leukemia, acute lymphocytic
2LAMB2, LAMSNephrosis, congenital, with or without ocular abnormalities
Pierson syndrome
2LAMB3Epidermolysis bullosa, Herlitz junctional type
Epidermolysis bullosa, generalized atrophic benign
2LAMC2, LAMNB2, LAMB2TEpidermolysis bullosa, Herlitz junctional type
Epidermolysis bullosa, generalized atrophic benign
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
2IL6, IFNB2, BSF2Osteopenia/osteoporosis
Kaposi sarcoma, susceptibility to
2IRS1Diabetes mellitus, noninsulin-dependent
Coronary artery disease, susceptibility to
2IMPDH1, RP10, LCA11Retinitis pigmentosa-10
Leber congenital amaurosis XI
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
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
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
2SLC2A2, GLUT2Diabetes mellitus, noninsulin-dependent
Fanconi-Bickel syndrome
2GGCXVitamin K-dependent coagulation defect
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
2GABRA1, EJM, ECA4Epilepsy, juvenile myoclonic
Epilepsy, childhood absence, 4
2FLT4, VEGFR3, PCLLymphedema, hereditary I
Hemangioma, capillary infantile, somatic
2FLGIchthyosis vulgaris
Atopic dermatitis, susceptibility to
2FTLHyperferritinemia-cataract syndrome
Basal ganglia disease, adult-onset
2ERCC5, XPG, COFS3Xeroderma pigmentosum, group G
Cerebrooculofacioskeletal syndrome 3
2ERCC4, XPFXeroderma pigmentosum, group F
XFE progeroid syndrome
2ERCC3, XPBXeroderma pigmentosum, group B
2MSSE, ESS1Epithelioma, self-healing, squamous 1, Ferguson-Smith type
Basal cell carcinoma
2ELNSupravalvar aortic stenosis
Cutis laxa, AD
2ELA2Hematopoiesis, cyclic
Neutropenia, congenital
2SLC26A3, DRA, CLDColon cancer
Chloride diarrhea, congenital, Finnish type
2SLC6A3, DAT1Attention-deficit hyperactivity disorder, susceptibility to
Nicotine dependence, protection against
2DRD3, ETM1, FET1Schizophrenia, susceptibility to
Essential tremor, susceptibility to
2NQO1, DIA4, NMOR1Benzene toxicity, susceptibility to
Leukemia, post-chemotherapy, susceptibility to
2DES, CMD1IMyopathy, desmin-related, cardioskeletal
Cardiomyopathy, dilated, 1I
2ALADPorphyria, acute hepatic
Lead poisoning, susceptibility to
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
2MCP, CD46Hemolytic-uremic syndrome
Measles, susceptibility to
2C3, ARMD9C3 deficiency
Macular degeneration, age-related, 9
2C1SC1r/C1s deficiency, combined
C1s deficiency, isolated
2MME, CD10, CALLA, NEPNeutral endopeptidase deficiency
Membranous glomerulonephritis, antenatal
2MMP2, CLG4A, MONAOsteolysis, idiopathic, Saudi type
Winchester syndrome
2COL9A2, EDM2Epiphyseal dysplasia, multiple, 2
Intervertebral disc disease, susceptibility to
2COL8A2, FECD, PPCD2Fuchs endothelial corneal dystrophy
Corneal dystrophy, polymorphous posterior, 2
2COL6A3Bethlem myopathy
Ullrich congenital muscular dystrophy
2COL6A2Bethlem myopathy
Ullrich congenital muscular dystrophy
2COL5A1Ehlers-Danlos syndrome, type II
Ehlers-Danlos syndrome, type I
2COL4A4Alport syndrome, autosomal recessive
Hematuria, familial benign
Brain small vessel disease with hemorrhage
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
2COMTSchizophrenia, susceptibility to
Panic disorder, susceptibility to
2TYRP1, CAS2, GP75Albinism, brown
Albinism, rufous
2NUP214, D9S46E, CAN, CAINLeukemia, acute myeloid
Leukemia, T-cell acute lymphoblastic
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
2LU, AU, BCAMBlood group, Lutheran system
Blood group, Auberger system
2SLC14A1, JK, UTE, UT1Urea transport defect, compensated
Blood group, Kidd
2GYPC, GE, GPCMalaria, resistance to
Blood group, Gerbich
2FY, GPDBlood group, Duffy system
Malaria, vivax, protection against
2ADRB1, ADRB1R, RHRResting heart rate
congestive heart failure, susceptibility to
2ATP2A2, ATP2B, DARDarier disease
Acrokeratosis verruciformis
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
2AGTR1, AGTR1A, AT2R1Hypertension, essential
Renal tubular dysgenesis
2SLC3A1, ATR1, D2H, NBATCystinuria
Homozygous 2p16 deletion syndrome
2AFP, HPAFPAFP deficiency, congenital
Hereditary persistence of alpha-fetoprotein
2A2MEmphysema due to alpha-2-macroglobulin deficiency
Alzheimer disease, susceptibility to
2H19, D11S813E, ASM1, BWSBeckwith-Wiedemann syndrome
Silver-Russell syndrome
2ACTN3Alpha-actinin-3 deficiency
Elite sprint athletic performance
2ACTC1, CMD1RCardiomyopathy, dilated, 1R
Cardiomyopathy, familial hypertrophic
2ASCL1, ASH1Central hypoventilation syndrome, congenital
Haddad syndrome
2CHRND, ACHRD, SCCMS, CMS2A, FCCMSMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, fast-channel congenital
2CHRNB1, ACHRB, SCCMS, CMS2A, CMS1DMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
2CHRNA1, ACHRD, CMS2A, SCCMS, FCCMSMyasthenic syndrome, slow-channel congenital
Myasthenic syndrome, fast-channel congenital
2ALDH2Alcohol intolerance, acute
Fetal alcohol syndrome

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