Frequency | Gene | Related Diseases |
15 | COL2A1 | Stickler 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 |
14 | LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B | Emery-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 Arthropathy, tendinous calcinosis, and progeroid features Heart-hand syndrome, Slovenian type |
13 | FGFR2, BEK, CFD1, JWS | Crouzon 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 |
12 | PTEN, MMAC1 | Cowden disease Lhermitte-Duclos syndrome Prostate cancer Endometrial carcinoma Thyroid carcinoma, follicular Bannayan-Riley-Ruvalcaba syndrome Oligodendroglioma Meningioma VATER association with hydrocephalus Proteus syndrome Macrocephaly/autism syndrome Juvenile polyposis syndrome, infantile form |
11 | PAX6, AN2, MGDA | Aniridia Peters anomaly Cataract with late-onset corneal dystrophy Keratitis Foveal hyperplasia Ectopia pupillae Morning glory disc anomaly Optic nerve hypoplasia Coloboma, ocular Coloboma of optic nerve Gillespie syndrome |
11 | FGFR3, ACH | Achondroplasia Hypochondroplasia 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 |
10 | TP53, P53, LFS1 | Colorectal cancer Li-Fraumeni syndrome Hepatocellular carcinoma Osteosarcoma Choroid plexus papilloma Nasopharyngeal carcinoma Pancreatic cancer Adrenal cortical carcinoma Breast cancer Li-Fraumeni-like syndrome |
10 | COL1A1 | Osteogenesis imperfecta, type I OI type II OI type III OI type IV Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type VIIA Osteoporosis Dissection of cervical arteries Caffey disease Ehlers-Danlos syndrome, type VIIA |
10 | SLC4A1, AE1, EPB3 | Ovalocytosis 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 |
9 | BRCA2, FANCD1, BROVCA2, GLM3 | Breast-ovarian cancer, familial, 2 Fanconi anemia, complementation group D1 Prostate cancer Breast cancer, male, susceptibility to Wilms tumor Medulloblastoma Glioblastoma 3 Pre-B-cell acute lymphoblastic leukemia, Pancreatic cancer |
9 | COL7A1 | Epidermolysis 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 |
8 | APC, GS, FPC, BTPS2 | Adenomatous polyposis coli Gastric cancer, somatic Adenoma, periampullary Hepatoblastoma Desmoid disease, hereditary Gardner syndrome Brain tumor-polyposis syndrome 2 Colorectal cancer, somatic |
8 | BEST1, VMD2, ARB, RP50 | Best macular dystrophy Maculopathy, bull's-eye Vitelliform macular dystrophy, adult-onset Bestrophinopathy Vitreoretinochoroidopathy Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Retinitis pigmentosa-50 Retinitis pigmentosa, concentric |
8 | LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4 | Osteoporosis-pseudoglioma syndrome Bone mineral density variability 1 Osteopetrosis, AD type I Hyperostosis, endosteal van Buchem disease, type 2 Osteosclerosis Osteoporosis Exudative vitreoretinopathy 4 |
8 | GDF5, CDMP1, SYNS2, OS5 | Acromesomelic 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 Osteoarthritis |
8 | SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 | Long 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 |
8 | FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS | Heterotopia, periventricular Otopalatodigital syndrome, type I Otopalatodigital syndrome, type II Frontometaphyseal dysplasia Melnick-Needles syndrome Intestinal pseudoobstruction, neuronal FG syndrome 2 Heterotopia, periventricular, ED variant |
8 | KRAS, KRAS2, RASK2, NS | Lung cancer Bladder cancer Breast cancer, somatic Pancreatic carcinoma, somatic Stomach cancer Leukemia, acute myelogenous Noonan syndrome 3 Cardiofaciocutaneous syndrome |
8 | RDS, RP7, PRPH2, PRPH, AVMD, AOFMD, CACD2 | Retinitis 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 |
8 | PIK3CA | Ovarian cancer, somatic Breast cancer, somatic Colorectal cancer, somatic Gastric cancer, somatic Hepatocellular carcinoma, somatic Nonsmall cell lung cancer, somatic Keratosis, seborrheic, somatic Nevus, epidermal |
8 | GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO | Pseudohypoparathyroidism Ia McCune-Albright syndrome Pituitary ACTH secreting adenoma, somatic Osseous heteroplasia, progressive Pseudohypoparathyroidism Ib Prolonged bleeding time, brachydactyly and mental retardation Acromegaly Pseudopseudohypoparathyroidism |
8 | MEN1 | Multiple endocrine neoplasia I Hyperparathyroidism, AD Prolactinoma, hyperparathyroidism, carcinoid syndrome Carcinoid tumor of lung Parathyroid adenoma, somatic Lipoma, somatic Angiofibroma, somatic Adrenal adenoma, somatic |
7 | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 | Ectrodactyly, 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 |
7 | TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD | Corneal 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 |
7 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 | Obesity, severe Obesity, resistance to Glioblastoma, susceptibility to Insulin resistance, severe, digenic Lipodystrophy, familial partial, type 3 Carotid intimal medial thickness 1 Diabetes, type 2 |
7 | ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 | Epilepsy, myoclonic, with mental retardation and spasticity Epileptic encephalopathy, early infantile, 1 Lissencephaly, X-linked 2 Mental retardation, X-linked 36/43/54 Proud syndrome Partington syndrome Hydranencephaly with abnormal genitalia |
7 | MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16 | Rett 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 |
7 | RET, MEN2A | Multiple endocrine neoplasia IIA Medullary thyroid carcinoma Multiple endocrine neoplasia IIB Hirschsprung disease Central hypoventilation syndrome, congenital Pheochromocytoma Renal agenesis |
7 | MPZ, CMT1B, CMTDI3, CHM, DSS | Charcot-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 |
7 | HOXD13, HOX4I, SPD, BDSD | Synpolydactyly, type II Brachydactyly, type E Brachydactyly, type D Synpolydactyly with foot anomalies Syndactyly, type V Brachydactyly-syndactyly syndrome VACTERL association |
7 | HBB | Sickle cell anemia Thalassemias, beta- Erythremias, beta- Methemoglobinemias, beta- Heinz body anemias, beta- Thalassemia-beta, dominant inclusion-body Hereditary persistence of fetal hemoglobin |
7 | FGFR1, FLT2, KAL2, OGD | Pfeiffer syndrome Jackson-Weiss syndrome Kallmann syndrome 2 Hypogonadotropic hypogonadism Osteoglophonic dysplasia Trigonocephaly Antley-Bixler syndrome |
7 | GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID | Deafness, 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 |
6 | NF1, VRNF, WSS, NFNS | Neurofibromatosis, type 1 Leukemia, juvenile myelomonocytic Melanoma, desmoplastic neurotropic Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Watson syndrome |
6 | ERCC6, CKN2, COFS1, CSB, ARMD5 | Cockayne syndrome, type B Cerebrooculofacioskeletal syndrome 1 De Sanctis-Cacchione syndrome Macular degeneration, age-related, susceptibility to 5 Lung cancer UV-sensitive syndrome |
6 | MTHFR | Homocystinuria due to MTHFR deficiency Schizophrenia, susceptibility to Vascular disease, susceptiblity to Neural tube defects, susceptiblity to Cleft lip/palate, susceptibility to Thromboembolism, susceptibility to |
6 | SLC26A2, DTD, DTDST, D5S1708, EDM4 | Diastrophic dysplasia Atelosteogenesis II Achondrogenesis Ib Epiphyseal dysplasia, multiple, 4 Diastrophic dysplasia, broad bone-platyspondylic variant De la Chapelle dysplasia |
6 | SCN4A, HYPP, NAC1A | Hyperkalemic periodic paralysis Paramyotonia congenita Myotonia congenita, atypical, acetazolamide-responsive Cramps, familial, potassium-aggravated Hypokalemic periodic paralysis Myasthenic syndrome |
6 | BCL10 | Lymphoma, MALT Lymphoma, follicular Mesothelioma Germ cell tumor Sezary syndrome Colon cancer |
6 | SDHD, PGL1 | Paragangliomas, familial nonchromaffin, 1, with or without deafness Pheochromocytoma Carcinoid tumors, intestinal Merkel cell carcinoma, somatic Paraganglioma and gastric stromal sarcoma Cowden-like syndrome |
6 | ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 | Stargardt disease-1 Retinitis pigmentosa-19 Cone-rod dystrophy 3 Macular degeneration, age-related, 2 Fundus flavimaculatus Retinal dystrophy, early-onset severe |
6 | CAV3, LGMD1C, LQT9 | Muscular 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 |
6 | L1CAM, CAML1, HSAS1 | Hydrocephalus 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 |
6 | GATA1, GF1, ERYF1, NFE1, XLTT | Dyserythropoietic anemia with thrombocytopenia Macrothrombocytopenia Leukemia, megakaryoblastic, with or without Down syndrome Leukemia, megakaryoblastic, of Down syndrome Thrombocytopenia with beta-thalassemia, X-linked Anemia, X-linked, without thrombocytopenia |
6 | IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1 | Incontinentia 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 |
6 | HFE, HLA-H, HFE1, MVCD7 | Hemochromatosis Transferrin serum level QTL Microvascular complications of diabetes 7 Porphyria variegata, susceptibility to Porphyria cutanea tarda, susceptibility to Alzheimer disease, susceptibility to |
6 | CDH1, UVO, LCAM, ECAD | Endometrial 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 |
6 | TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC | Cardiomyopathy, 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 |
6 | SCN1A, GEFSP2, SMEI, FEB3A | Epilepsy, 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, 3A Antiepileptic drugs, response to |
6 | HTR2A | Schizophrenia, 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 |
6 | POLG, POLG1, POLGA, PEO, SANDO, SCAE | Progressive external ophthalmoplegia, autosomal recessive Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadiam Alpers syndrome Spinocerebellar ataxia with epilepsy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MNGIE without leukoencephalopathy |
6 | GLI3, PAPA, PAPB, ACLS | Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B Acrocallosal syndrome Hypothalamic hamartomas, somatic |
6 | KIT, PBT | Piebaldism Mast cell leukemia Mastocytosis with associated hematologic disorder Germ cell tumors Gastrointestinal stromal tumor, somatic Leukemia, acute myeloid |
6 | NOS3 | Coronary spasms, susceptibility to Alzheimer disease, late-onset, susceptibility to Hypertension, susceptibility to Hypertension, pregnancy-induced Placental abruption Ischemic stroke, susceptibility to |
6 | MYH9, MHA, FTNS, DFNA17 | May-Hegglin anomaly Fechtner syndrome Sebastian syndrome Deafness, autosomal dominant 17 Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness |
6 | MAPT, MTBT1, DDPAC, MSTD | Dementia, frontotemporal, with or without parkinsonism Pick disease Supranuclear palsy, progressive Supranuclear palsy, progressive atypical Parkinson disease Tauopathy and respiratory failure |
6 | MC1R, SHEP2, CMM5 | Skin/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 |
6 | KRT14 | Epidermolysis 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 |
6 | KRT5, DDD | Epidermolysis 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 |
6 | JAK2 | Polycythemia vera Thrombocythemia, essential Myelofibrosis, idiopathic Budd-Chiari syndrome Leukemia, acute myelogenous Myeloproliferative disorder with erythrocytosis |
6 | FBN1, MFS1, WMS | Marfan syndrome Shprintzen-Goldberg syndrome Ectopia lentis, familial MASS syndrome Weill-Marchesani syndrome, dominant Aortic aneurysm, ascending, and dissection |
6 | ESR1, ESR | Breast cancer Estrogen resistance HDL response to hormone replacement, augmented Migraine, susceptibility to Atherosclerosis, susceptibility to Myocardial infarction, susceptibility to |
6 | GJA1, CX43, ODDD, SDTY3, ODOD, HSS | Oculodentodigital dysplasia Syndactyly, type III Hypoplastic left heart syndrome Atrioventricular septal defect Oculodentodigital dysplasia, autosomal recessive Hallermann-Streiff syndrome |
6 | BDNF | Memory 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 WAGRO syndrome |
6 | APOE, AD2, LPG, LDLCQ5 | Hyperlipoproteinemia, type III Myocardial infarction susceptibility Sea-blue histiocyte disease Alzheimer disease-2 Macular degeneration, age-related Lipoprotein glomerulopathy |
6 | IFNGR1 | Mycobacterial 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 |
6 | ACE, DCP1, ACE1, MVCD3 | Myocardial 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 |
6 | PSEN1, AD3 | Alzheimer 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 |
5 | F5 | Factor V deficiency Thrombophilia, susceptibility to, due to factor V Leiden Stroke, ischemic, susceptiblity to Budd-Chiari syndrome Thrombophilia, susceptiblity to, due to activated protein C resistance |
5 | CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 | Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome type 4 Bardet-Biedl syndrome 14 |
5 | VHL | von Hippel-Lindau syndrome Renal cell carcinoma, somatic Pheochromocytoma Hemangioblastoma, cerebellar, somatic Polycythemia, benign familial |
5 | ATM, ATA, AT1 | Ataxia-telangiectasia Lymphoma, B-cell non-Hodgkin, somatic Breast cancer, susceptibility to Lymphoma, mantle cell T-cell prolymphocytic leukemia, sporadic |
5 | KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 | Long QT syndrome-1 Jervell and Lange-Nielsen syndrome Atrial fibrillation, familial, 3 Torsades de pointes, drug-associated Short QT syndrome-2 |
5 | WT1 | Wilms tumor, type 1 Denys-Drash syndrome Mesangial sclerosis, isolated diffuse Frasier syndrome Meacham syndrome |
5 | GBA | Gaucher disease, type I Gaucher disease, type II Gaucher disease, type III Gaucher disease, type IIIC Gaucher disease, perinatal lethal |
5 | LMBR1, ACHP, C7orf2, PPD2 | Acheiropody Polydactyly, preaxial type II Triphalangeal thumb, type I Triphalangeal thumb-polysyndactyly syndrome Syndactyly, type IV |
5 | CHEK2, RAD53, CHK2, CDS1, LFS2 | Li-Fraumeni syndrome Osteosarcoma, somatic Breast cancer, susceptibility to Prostate cancer, familial, susceptibility to Breast and colorectal cancer, susceptibility to |
5 | FLNB, SCT, AOI, LRS1 | Spondylocarpotarsal synostosis syndrome Larsen syndrome Atelostogenesis, type I Atelosteogenesis, type III Boomerang dysplasia |
5 | TSHR, CHNG1 | Hypothyroidism, congenital, nongoitrous, 1 275200 Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational |
5 | GJB3, CX31, DFNA2B | Erythrokeratodermia variabilis Deafness, autosomal dominant 2B Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness, digenic, GJB2/GJB3 |
5 | NOG, SYM1, SYNS1 | Symphalangism, proximal Synostoses syndrome, multiple, 1 Tarsal-carpal coalition syndrome Stapes ankylosis with broad thumb and toes Brachydactyly, type B2 |
5 | CFTR, ABCC7, CF, MRP7 | Cystic fibrosis Congenital bilateral absence of vas deferens Sweat chloride elevation without CF Pancreatitis, idiopathic Hypertrypsinemia, neonatal |
5 | CYP1B1, GLC3A | Glaucoma 3A, primary congenital Peters anomaly Glaucoma, early-onset, digenic Glaucoma, primary open angle, adult-onset Glaucoma, primary open angle, juvenile-onset |
5 | EYA1, BOR | Branchiootorenal syndrome Branchiootic syndrome Anterior segment anomalies and cataract Branchiootorenal syndrome with cataract Otofaciocervical syndrome |
5 | CASR, HHC1, PCAR1, FIH, EIG8 | Hypocalciuric hypercalcemia, type I Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant, with Bartter syndrome Epilepsy, idiopathic generalized, susceptibility to, 8 |
5 | PMP22, CMT1A, CMT1E, DSS | Charcot-Marie-Tooth disease, type 1A Dejerine-Sottas disease Neuropathy, recurrent, with pressure palsies Charcot-Marie-Tooth disease, type 1E Roussy-Levy syndrome |
5 | KCNJ11, BIR, PHHI, HHF2, TNDM3 | Hyperinsulinemic hypoglycemia, familial, 2 Diabetes, permanent neonatal Diabetes mellitus, permanent neonatal, with neurologic features Diabetes mellitus, type 2, susceptibility to Diabetes mellitus, transient neonatal, 3 |
5 | ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2 | Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia of infancy, leucine-sensitive Diabetes mellitus, transient neonatal 2, 610374 Diabetes mellitus, noninsulin-dependent Diabetes mellitus, permanent neonatal |
5 | CDKN2A, MTS1, P16, MLM, CMM2 | Melanoma, cutaneous malignant, 2 Li Fraumeni syndrome Melanoma and neural system tumor syndrome Pancreatic cancer/melanoma syndrome Orolaryngeal cancer, multiple, |
5 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 | Androgen insensitivity Spinal and bulbar muscular atrophy of Kennedy Androgen insensitivity, partial, with or without breast cancer Prostate cancer, susceptibility to Hypospadias 1, X-linked |
5 | FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B | Scapuloperoneal 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 |
5 | TNF, TNFA | Malaria, cerebral, susceptibility to Septic shock, susceptibility to Asthma, susceptibility to Dementia, vascular, susceptibility to Migraine without aura, susceptibility to |
5 | PRKAR1A, TSE1, CNC1, CAR, PPNAD1 | Carney complex, type 1 Myxoma, intracardiac Thyroid carcinoma, papillary Pigmented adrenocortical disease, primary, 1 Adrenocortical tumor, somatic |
5 | PRNP, PRIP | Creutzfeldt-Jakob disease Gerstmann-Straussler disease Insomnia, fatal familial Prion disease with protracted course Huntington disease-like 1 |
5 | CD36, CHDS7 | Macrothrombocytopenia Platelet glycoprotein IV deficiency Malaria, cerebral, susceptibility to Malaria, cerebral, reduced risk of Coronary heart disease, susceptibility to, 7 |
5 | PTHR1, PTHR, PFE | Metaphyseal chondrodysplasia, Murk Jansen type Enchondromatosis, Ollier type Chondrodysplasia, Blomstrand type Eiken syndrome Failure of tooth eruption, primary |
5 | BRAF | Melanoma, melignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome |
5 | MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD | Cardiomyopathy, familial hypertrophic, 1 Cardiomyopathy, dilated, 1S Myopathy, myosin storage Myopathy, Laing distal Scapuloperoneal syndrome, myopathic type |
5 | MBL2, MBL, MBP1 | Mannose-binding protein deficiency Diabetes mellitus, gestational, susceptibility to Meningococcal disease, susceptibility to Chronic infections, due to MBL deficiency Preterm delivery, susceptibility to |
5 | LHCGR, LHR, LCGR | Precocious puberty, male Leydig cell hypoplasia with pseudohermaphroditism Leydig cell hypoplasia with hypergonadotropic hypogonadism Luteinizing hormone resistance, female Leydig cell adenoma, somatic, with precocious puberty |
5 | IL6, IFNB2, BSF2, HSF, HGF | Rheumatoid arthritis, systemic juvenile Kaposi sarcoma, susceptibility to Diabetes, susceptibility to, 222100 Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to Crohn disease-associated growth failure |
5 | IRF1, MAR | Macrocytic anemia, refractory, of 5q- syndrome Myelodysplastic syndrome, preleukemic Myelogenous leukemia, acute Gastric cancer Nonsmall cell lung cancer |
5 | IFNG, IFG, IFI | TSC2 angiomyolipomas, renal, modifier of Aplastic anemia Tuberculosis, protection against AIDS, rapid progression to Hepatitis C virus, resistance to |
5 | HNF1A, TCF1, MODY3 | MODY, type III Diabetes mellitus, noninsulin-dependent, 2 Diabetes mellitus, insulin-dependent Hepatic adenoma Renal cell carcinoma |
5 | HBA2 | Thalassemia, alpha- Hemoglobin H disease Heinz body anemia Erythrocytosis Hypochromic microcytic anemia |
5 | KRT1, EPPK, NEPPK, EHK | Epidermolytic hyperkeratosis Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis kistrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic Plamoplantar keratoderma, epidermolytic Keratosis palmoplantaris striata III |
5 | GCK, HHF3 | MODY, type II Diabetes mellitus, noninsulin-dependent, late onset Diabetes mellitus, gestational Hyperinsulinemic hypoglycemia, familial, 3 Diabetes mellitus, permanent neonatal |
5 | HF1, CFH, HUS, ARMD4, AHUS1 | Hemolytic uremic syndrome, atypical, susceptibility to, 1} Membranoproliferative glomerulonephritis with CFH deficiency Macular degeneration, age-related, 4 Complement factor H deficiency Basal laminar drusen |
5 | DSP, KPPS2, PPKS2 | Keratosis palmoplantaris striata II Dilated cardiomyopathy with woolly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Skin fragility-woolly hair syndrome Epidermolysis bullosa, lethal acantholytic |
5 | COL11A2, STL3, DFNA13, DFNB53 | Stickler syndrome, type III Otospondylomegaepiphyseal dysplasia Weissenbacher-Zweymuller syndrome Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 |
5 | COL1A2 | Osteogenesis imperfecta, 4 clinical forms, 166200, 166210, 259420 Ehlers-Danlos syndrome, type VIIB Osteoporosis, postmenopausal Marfan syndrome, atypical Ehlers-Danlos syndrome, cardiac valvular form |
5 | CTNNB1 | Colorectal cancer Hepatoblastoma Pilomatricoma Ovarian cancer Hepatocellular carcinoma |
4 | GLB1 | GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III Morquio syndrome B |
4 | OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 | Albinism, oculocutaneous, type II Albinism, brown oculocutaneous Skin/hair/eye pigmentation 1, blue/nonblue eyes Skin/hair/eye pigmentation 1, blond/brown hair |
4 | CHD7, IS3, KAL5 | CHARGE syndrome Scoliosis, idiopathic 3 Kallmann syndrome 5 Hypogonadotropic hypogonadism |
4 | FKTN, FCMD, CMD1X, LGMD2M | Muscular dystrophy, Fukuyama congenital Walker-Warburg syndrome Cardiomyopathy, dilated, 1X Muscular dystrophy, limb-girdle, type 2M |
4 | HRPT2, C1orf28 | Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism, familial primary Parathyroid adenoma with cystic changes Parathyroid carcinoma |
4 | FLCN, BHD | Birt-Hogg-Dube syndrome Pneumothorax, primary spontaneous Renal carcinoma, chromophobe, somatic Colorectal cancer, somatic |
4 | TYR, SHEP3 | Albinism, oculocutaneous, type IA Waardenburg syndrome/albinism, digenic Albinism, oculocutaneous, type IB Skin/hair/eye pigmentation 3, freckling |
4 | NSD1, ARA267, STO | Sotos syndrome Leukemia, acute myeloid Weaver syndrome Beckwith-Wiedemann syndrome |
4 | GP1BA | Bernard-Soulier syndrome, type A von Willebrand disease, platelet-type Nonarteritic anterior ischemic optic neuropathy, susceptibility to Bernard-Soulier syndrome, benign autosomal dominant |
4 | TREX1, AGS1, CRV, HERNS | Aicardi-Goutieres syndrome 1, dominant and recessive Chilblain lupus Vasculopathy, retinal, with cerebral leukodystrophy Systemic lupus erythematosus, susceptibility to |
4 | GDAP1, CMT4A, CMT2K, CMTRIA | Charcot-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 |
4 | PAX3, WS1, HUP2, CDHS | Waardenburg syndrome, type I Waardenburg syndrome, type III Rhabdomyosarcoma, alveolar Craniofacial-deafness-hand syndrome |
4 | FKRP, MDC1C, LGMD2I | Muscular dystrophy, congenital, 1C Muscular dystrophy, limb-girdle, type 2I Muscle-eye-brain disease Walker-Warburg syndrome |
4 | CTNS | Cystinosis, nephropathic Cystinosis, ocular nonnephropathic Cystinosis, late-onset juvenile or adolescent nephropathic Cystinosis, atypical nephropathic |
4 | TIRAP | Pneumococcal disease, invasive, protection against Bacteremia, protection against Malaria, protection against Tuberculosis, protection against |
4 | SLC45A2, MATP, AIM1, SHEP5 | Oculocutaneous 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 |
4 | WFS1, WFRS, WFS, DFNA6 | Wolfram syndrome Hearing loss, low-frequency sensorineural Wolfram-like syndrome, autosomal dominant Diabetes mellitus, noninsulin-dependent, association with |
4 | C10orf2, TWINKLE, PEO1, PEOA3, SANDO, IOSCA | Progressive external ophthalmoplegia with mitochondrial DNA deletions Sensory ataxia neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome, hepatocerebral form Spinocerebellar ataxia, infantile-onset |
4 | NOD2, CARD15, IBD1, CD, ACUG, PSORAS1 | Crohn disease, susceptibility to Blau syndrome Psoriatic arthritis, susceptibility to Sarcoidosis, early-onset |
4 | GJB6, CX30, DFNA3B, HED, ED2, DFNB1B | Deafness, autosomal dominant 3B Ectodermal dysplasia, hidrotic Deafness, autosomal recessive 1B Deafness, digenic GJB2/GJB6 |
4 | PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 | Retinitis pigmentosa-41 Cone-rod dystrophy 12 Stargardt disease 4 Macular dystrophy, retinal, 2 |
4 | BCS1L, FLNMS, GRACILE, BJS, PTD | Mitochondrial complex III deficiency GRACILE syndrome Leigh syndrome Bjornstad syndrome |
4 | PLA2G6, IPLA2, INAD1 | Infantile neuroaxonal dystrophy 1 Neurodegeneration with brain iron accumulation Karak syndrome Dystonia-parkinsonism, adult-onset |
4 | SCN9A, NENA, PN1, FEB3B | Erythermalgia, primary Insensitivity to pain, channelopathy-associated Paroxysmal extreme pain disorder Febrile convulsions, familial, 3B |
4 | PITX3, CTPP4 | Anterior segment mesenchymal dysgenesis Cataract, posterior polar, 4 Cataract, congenital Cataract, posterior polar, 4, syndromic |
4 | PRKN, PARK2, PDJ, LPRS2 | Parkinson disease, juvenile, type 2 Adenocarcinoma of lung, somatic Adenocarcinoma, ovarian, somatic Leprosy, susceptibility to |
4 | SOX10, WS4, WS2E | Waardenburg-Shah syndrome Yemenite deaf-blind hypopigmentation syndrome PCWH Waardenburg syndrome, type IIE |
4 | STK11, PJS, LKB1 | Peutz-Jeghers syndrome Melanoma, malignant sporadic Pancreatic cancer, sporadic Testicular tumor, sporadic |
4 | CASP8, MCH5, ALPS2B | Autoimmune lymphoproliferative syndrome, type IIB Hepatocellular carcinoma, somatic Breast cancer, protection against Lung cancer, protection against |
4 | PITX2, IDG2, RIEG1, RGS, IGDS2 | Axenfeld-Rieger syndrome, type 1 Iridogoniodysgenesis, type 2 Ring dermoid of cornea Peters anomaly |
4 | CCR5, CMKBR5, CCCKR5, IDDM22 | HIV infection, susceptibility/resistance to West nile virus, susceptibility to Hepatitis C virus, resistance to Diabetes mellitus, insulin-dependent, 22 |
4 | FOXC1, FKHL7, FREAC3, IRID1, RIEG3 | Iridogoniodysgenesis, type 1 Rieger or Axenfeld anomalies Axenfeld-Rieger syndrome, type 3 Iris hypoplasia and glaucoma |
4 | CACNA1A, CACNL1A4, SCA6 | Hemiplegic migraine, familial Episodic ataxia, type 2 Spinocerebellar ataxia-6 Cerebellar ataxia, pure |
4 | GHR | Laron dwarfism Short stature, idiopathic Hypercholesterolemia, familial, modification of Increased responsiveness to growth hormone |
4 | GJA8, CX50, CAE1 | Cataract, zonular pulverulent-1 Cataract, nuclear progressive Cataract-microcornea syndrome Cataract, nuclear pulverulent |
4 | HADHA, MTPA | LCHAD deficiency Trifunctional protein deficiency HELLP syndrome, maternal, of pregnancy Fatty liver, acute, of pregnancy |
4 | SHH, HPE3, HLP3, SMMCI, MCOPCB5 | Holoprosencephaly-3 Solitary median maxillary central incisor Coloboma, ocular Microphthalmia, isolated, with coloboma 5 |
4 | HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7 | Ectodermal dysplasia, Margarita Island type Zlotogora-Ogur syndrome Cleft lip/palate ectodermal dysplasia syndrome Orofacial cleft 7 |
4 | NKX2E, CSX, CHNG5 | Atrial septal defect with atrioventricular conduction defects Tetrology of Fallot Atrioventricular block, second-degree Hypothyroidism, congenital nongoitrous, 5 |
4 | SMN1, SMA1, SMA2, SMA3, SMA4 | Spinal muscular atrophy-1 Spinal muscular atrophy-2 Spinal muscular atrophy-3 Spinal muscular atrophy-4 |
4 | RPGR, RP3, CRD, RP15, COD1, CORDX1 | Retinitis pigmentosa-3 Cone-rod dystrophy-1 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Macular degeneration, X-linked atrophic |
4 | PRPS1, CMTX5 | Gout, PRPS-related Phosphoribosylpyrophosphate synthetase superactivity Charcot-Marie-Tooth disease, X-linked recessive, 5 Arts syndrome |
4 | TAZ, EFE2, BTHS, CMD3A, LVNCX | Endocardial fibroelastosis-2 Barth syndrome Cardiomyopathy, dilated, 3A Noncompaction of left ventricular myocardium, isolated |
4 | WAS, IMD2, THC1 | Wiskott-Aldrich syndrome Thrombocytopenia, X-linked Neutropenia, severe congenital, X-linked Thrombocytopenia, X-linked, intermittent |
4 | CLCN5, CLCK2, NPHL2, DENTS, NPHL1 | Dent disease Nephrolithiasis, type I Hypophosphatemic rickets Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis |
4 | UGT1A1, UGT1, GNT1 | Crigler-Najjar syndrome, type I Gilbert syndrome Crigler-Najjar syndrome, type II Hyperbilirubinemia, familial transcient neonatal |
4 | TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B | Colorectal cancer, hereditary nonpolyposis, type 6 Esophageal cancer, somatic Loeys-Dietz syndrome, type 1B Loeys-Dietz syndrome, type 2B |
4 | SDHB, SDH2, SDHIP, PGL4 | Paraganglioma, familial chromaffin, 4 Pheochromocytoma Paraganglioma and gastric stromal sarcoma Cowden-like syndrome |
4 | RYR1, MHS, CCO | Malignant hyperthermia susceptibility 1 Central core disease Minicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber |
4 | RB1 | Retinoblastoma Osteosarcoma Bladder cancer Pinealoma with bilateral retinoblastoma |
4 | RLBP1 | Fundus albipunctatus Retinitis punctata albescens Newfoundland rod-cone dystrophy Bothnia retinal dystrophy |
4 | RAG1 | Severe 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 |
4 | PTPN11, PTP2C, SHP2, NS1 | Noonan syndrome 1 Leopard syndrome Leukemia, juvenile myelomonocytic Noonan-like/multiple giant cell lesion syndrome |
4 | PSAP, SAP1 | Metachromatic leukodystrophy due to SAP-b deficiency Gaucher disease, atypical Combined SAP deficiency Krabbe disease, atypical |
4 | TTR, PALB | Amyloid polyneuropathy, several types Dystransthyretinemic hyperthyroxinemia Amyloidosis, senile systemic Carpal tunnel syndrome, familial |
4 | PLG | Plasminogen Tochigi disease Thrombophilia, dysplasminogenemic Plasminogen deficiency, types I and II Conjunctivitis, ligneous |
4 | ENPP1, PDNP1, NPPS, M6S1, PCA1 | Ossification of posterior longitudinal ligament of spine Diabetes mellitus, non-insulin-dependent, susceptibility to Obesity, susceptibility to Arterial calcification, generalized, of infancy |
4 | ALPL, HOPS, TNSALP | Hypophosphatasia, infantile Hypophosphatasia, childhood Odontohypophosphatasia Hypophosphatasia, adult |
4 | PON1, PON, ESA, MVCD5 | Coronary artery disease, susceptibility to Coronary artery spasm, susceptibility to Organophosphate poisoning, sensitivity to Microvascular complications of diabetes, susceptibility to, 5 |
4 | ERBB2, NGL, NEU, HER2 | Adenocarcinoma of lung, somatic Glioblastoma, somatic Gastric cancer, somatic Ovarian cancer, somatic, |
4 | AKT1 | Breast cancer, somatic Colorectal cancer, somatic Ovarian cancer, somatic Schizophrenia, susceptibility to |
4 | CCL2, SCYA2, MCP1, MCAF | HIV-1, resistance to Spina bifida, susceptiblity to Coronary artery disease, modifier of Mycobacterium tuberculosis, susceptibility to |
4 | MTR | Methylcobalamin deficiency, cblG type Neural tube defects, folate-sensitive, susceptibility to Down syndrome, susceptibility to Cleft lip/palate, susceptibility to |
4 | KRT16, FNEPPK | Pachyonychia congenita, Jadassohn-Lewandowsky type Palmoplantar keratoderma, nonepidermolytic Palmoplantar verrucous nevus, unilateral Palmoplantar keratoderma, nonepidermolytic, focal |
4 | INSR, HHF5 | Leprechaunism Rabson-Mendenhall syndrome Diabetes mellitus, insulin-resistant, with acanthosis nigricans Hyperinsulinemic hypoglycemia, familial, 5 |
4 | HLA-DR1B, SS1 | Pemphigoid, susceptibility to Sarcoidosis, susceptibility l, 1 Multiple sclerosis, susceptibility to Rheumatoid arthritis, susceptibility to |
4 | HBA1 | Thalassemias, alpha- Methemoglobinemias, alpha- Erythremias, alpha- Heinz body anemias, alpha- |
4 | GH1, GHN, IGHD1B | Growth hormone deficiency, isolated, type IA Growth hormone deficiency, isolated, type IB Growth hormone deficiency, isolated, type II Kowarski syndrome |
4 | GABRG2, GEFSP3, CAE2, ECA2 | Epilepsy, generalized, with febrile seizures plus, type 3 Epilepsy, childhood absence, susceptibility to, 2 Febrilel, convulsions, familial, 8 611277 Myoclonic epilepsy, severe, of infancy |
4 | FSHR, ODG1 | Ovarian dysgenesis 1 Ovarian sex cord tumors Ovarian response to FSH stimulation Ovarian hyperstimulation syndrome |
4 | FGA | Dysfibrinogenemia, alpha type, causing bleeding diathesis Dysfibrinogenemia, alpha type, causing recurrent thrombosis Amyloidosis, hereditary renal Afibrinogenemia, congenital |
4 | EPHX1 | Fetal hydantoin syndrome Diphenylhydantoin toxicity Hypercholanemia, familial Preeclampsia, susceptibility to |
4 | SLC6A3, DAT1 | Attention-deficit hyperactivity disorder, susceptibility to Nicotine dependence, protection against Major affective disorder Parkinsonism-dystonia, infantile |
4 | DRD4 | Autonomic nervous system dysfunction Novelty seeking personality Attention deficit-hyperactivity disorder Parkinson disease, protection against |
4 | DSPP, DPP, DGI1, DFNA39, DTDP2 | Dentinogenesis imperfecta, Shields type II Deafness, autosomal dominant 36, with dentinogenesis Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II |
4 | CYP11B2 | Hypoaldosteronism, congenital, due to CMO II deficiency Hypoaldosteronism, congenital, due to CMO I deficiency Low renin hypertension, susceptibility to Aldosterone to renin ratio raised |
4 | CYP2C, CYP2C19 | Mephenytoin poor metabolizer Opremazole poor metagolizer Proguanil poor metabolizer Clopidogrel, impaired responsiveness to |
4 | POR | Antley-Bixler syndrome-like with disordered steroidogenesis Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency POR deficiency Disordered steroidogenesis, isolated |
4 | CTLA4, IDDM12, CELIAC3, GRD4 | Graves disease, susceptibility to, 4 Hypothyroidism, autoimmune Diabetes mellitus, insulin-dependent, susceptibility to Celiac disease, susceptibility to |
4 | CRYGD, CRYG4, CCP | Cataracts, punctate, progressive juvenile-onset Cataract, crystalline aculeiform Cataract, congenital, cerulean type, 3 Cataract, nonnuclear polymorphic congenital |
4 | CR1, C3BR | CR1 deficiency SLE susceptibility Blood group, Knops system Malaria, severe, resistance to |
4 | COL4A1 | Porencephaly Brain small vessel disease with hemorrhage Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with Axenfeld-Rieger anomaly |
4 | APOA1 | ApoA-I and apoC-III deficiency, combined Hypoalphalipoproteinemia Corneal clouding, autosomal recessive Amyloidosis, 3 or more types |
4 | PI, AAT, SERPINA1 | Emphysema-cirrhosis Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh Emphysema Pulmonary disease, chronic obstructive, susceptibility to |
4 | ACTA1, ASMA, NEM3, NEM1, CFTD1 | Myopathy, nemaline, 3 Myopathy, actin, congenital, with excess of thin myofilaments Myopathy, actin, congenital, with cores Myopathy, congenital, with fiber-type disporportion 1 |
3 | LU, AU, BCAM | Blood group, Lutheran system Blood group, Auberger system Blood group, Lutheran null |
3 | C2orf25, MMADHC | Homocystinuria, cblD type, variant 1 Methylmalonic aciduria, cblD type, variant 2 Methylmalonic aciduria and homocystinuria, cblD type |
3 | TMEM67, MKS3, JBTS6 | Meckel syndrome, type 3 Joubert syndrome 6 Bardet-Biedl syndrome 14, modifier of |
3 | LPL, LIPD, HDLCQ11 | Lipoprotein lipase deficiency Combined hyperlipidemia, familial High density lipoprotein cholesterol level QTL 11 |
3 | DBH | Dopamine-beta-hydroxylase activity levels, plasma Parkinson disease, resistance to Dopamine beta-hydroxylase deficiency |
3 | MSH2, COCA1, FCC1, HNPCC1 | Colorectal cancer, hereditary nonpolyposis, type 1 Muir-Torre syndrome Mismatch repair cancer syndrome |
3 | PEX26 | Adrenoleukodystrophy, neonatal Refsum disease, infantile form Zellweger syndrome |
3 | CPS1 | Carbamoylphosphate synthetase I deficiency Pulmonary hypertension, familial persistent, of the newborn Venoocclusive disease after bone marrow transplantation |
3 | SOX9, CMD1, SRA1 | Campomelic dysplasia with autosomal sex reversal Acampomelic campomelic dysplasia Campomelic dysplasia |
3 | LEMD3, MAN1 | Osteopoikilosis Buschke-Ollendorff syndrome Melorheostosis with osteopoikilosis |
3 | POMT1 | Walker-Warburg syndrome Muscular dystrophy, limb-girdle, type 2K Muscular dystrophy, congenital, plus mental retardation |
3 | NF2 | Neurofibromatosis, type 2 Meningioma, NF2-related, somatic Schwannomatosis |
3 | IRF6, VWS, LPS, PIT, PPS, OFC6 | van der Woude syndrome Popliteal pterygium syndrome Orofacial cleft 6 |
3 | NPHP1, NPH1, SLSN1, JBTS4 | Nephronophthisis, juvenile Senior-Loken syndrome-1 Joubert syndrome 4 |
3 | MPO | Myeloperoxidase deficiency Alzheimer disease, susceptibility to Lung cancer, protection against, in smokers |
3 | HEXA, TSD | Tay-Sachs disease GM2-gangliosidosis, several forms Hex A pseudodeficiency |
3 | CIAS1, FCU, FCAS, NALP3, PYPAF1 | Cold-induced autoinflammatory syndrome, familial Muckle-Wells syndrome CINCA syndrome |
3 | ALS2, ALSJ, PLSJ, IAHSP | Amyotrophic lateral sclerosis, juvenile Primary lateral sclerosis, juvenile Spastic paralysis, infantile onset ascending |
3 | BSCL2, SPG17, HMN5 | Lipodystrophy, congenital generalized, type 2 Silver spastic paraplegia syndrome Neuropathy, distal hereditary motor, type V |
3 | KIF1B, CMT2A, CMT2A1, NBLST1 | Charcot-Marie-Tooth disease, type 2A1 Pheochromocytoma Neuroblastoma, susceptibility to, 1 |
3 | LDB3, ZASP, CYPHER, KIAA01613 | Myopathy, myofibrillar, ZASP-related Cardiomyopathy, dilated Cardiomyopathy, dilated, with left ventricular noncompaction |
3 | FOXL2, BPES, BPES1, PFRK, POF3 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 Blepharophimosis, epicanthus inversus, and ptosis, type 2 Premature ovarian failure 3 |
3 | AIP, XAP2, ARA9 | Pituitary adenoma, growth hormone-secreting Pituitary adenoma, prolactin-secreting Pituitary adenoma, ACTH-secreting |
3 | CDH23, USH1D | Usher syndrome, type 1D Deafness, autosomal recessive 12 Usher syndrome, type 1D/F digenic |
3 | PCDH15, DFNB23, USH1F | Usher syndrome, type 1F Deafness, autosomal recessive 23 Usher syndrome, type 1D/F digenic |
3 | TRPV4, VROAC | Brachyolmia type 3 Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia |
3 | FGF23, ADHR, HPDR2, PHPTC | Hypophosphatemic rickets, autosomal dominant Osteomalacia, tumor-induced Tumoral calcinosis, hyperphosphatemic, familial |
3 | OPA1, NTG, NPG | Optic atrophy 1 Glaucoma, normal tension, susceptibility to Optic atrophy and deafness |
3 | TSC1, LAM | Tuberous sclerosis-1 Lymphangioleiomyomatosis Focal cortical dysplasia, Taylor balloon cell type |
3 | DYT1, TOR1A | Dystonia-1, torsion Dystonia, early-onset atypical, with myoclonic features Dystonia-1, modifier of |
3 | CFC1, CRYPTIC, HTX2 | Heterotaxy, visceral, 2, autosomal Double-outlet right ventricle Transposition of the great arteries, dextro-looped 2 |
3 | VSX1, RINX, PPCD, PPD, KTCN | Keratoconus Corneal dystrophy, hereditary polymorphous posterior Craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal retinal and auditory bipolar cells |
3 | CYLD1, CDMT, EAC, MFT1 | Cylindromatosis, familial Brooke-Spiegler syndrome Trichoepithelioma, multiple familial, 1 |
3 | MUTYH, MYH | Adenomas, multiple colorectal Gastric cancer, somatic Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |
3 | CD209, CDSIGN | Dengue fever, protection against HIV type 1, susceptibility to Mycobacterium tuberculosis, susceptibility to |
3 | FBLN5, ARMD3 | Cutis laxa, autosomal recessive Cutis laxa, autosomal dominant Macular degeneration, age-related, 3 |
3 | MLH3, HNPCC7 | Colorectal cancer, somatic Colon cancer, hereditary nonpolypopsis, type 7 Endometrial cancer |
3 | AIPL1, LCA4 | Leber congenital amaurosis 4 Retinitis pigmentosa, juvenile Cone-rod dystrophy |
3 | HLA-DQB1, CELIAC1 | Creutzfeldt-Jakob disease, variant, resistance to Multiple sclerosis, susceptibility to Celiac disease, susceptibility to |
3 | CCM1, CAM, KRIT1 | Cerebral cavernous malformations-1 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations Cavernous malformations of CNS and retina |
3 | CRB1, RP12, LCA8 | Retinitis pigmentosa-12, autosomal recessive Leber congenital amaurosis 8 Pigmented paravenous chorioretinal atrophy |
3 | TTID, MYOT | Muscular dystrophy, limb-girdle, type 1A Myotilinopathy Myopathy, spheroid body |
3 | EDAR, DL, ED3, EDA3, HRM1 | Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia, hypohidrotic, autosomal recessive Hair morphology 1, hair thickness |
3 | SEPT9, MSF, MSF1, NAPB | Leukemia, acute myeloid, therapy-related Ovarian carcinoma Amyotrophy, hereditary neuralgic |
3 | PMX2B, NBPHOX, PHOX2B, NBLST2 | Central hypoventilation syndrome, congenital Hirschsprung disease, short-segment Neuroblastoma, susceptibility to, 2 |
3 | GNE, GLCNE, IBM2, DMRV, NM | Sialuria Inclusion body myopathy, autosomal recessive Nonaka myopathy |
3 | RECQL4, RTS, RECQ4 | Rothmund-Thomson syndrome RAPADILINO syndrome Baller-Gerold syndrome |
3 | RAD54L, HR54, HRAD54 | Breast cancer, invasive ductal Lymphoma, non-Hodgkin, somatic Adenocarcinoma, colonic, somatic |
3 | TNFRSF11A, RANK, ODFR, OFE, OPTB7 | Osteolysis, familial expansile Paget disease of bone Osteopetrosis, autosomal recessive 7 |
3 | BFSP2, CP49, CP47 | Cataract, juvenile-onset Cataract, congenital Cataract, autosomal dominant, multiple types 1 |
3 | TLR5, TIL3, SLEB1 | Legionaire disease, susceptibility to Systemic lupus erythematosus, resistance to Systemic lupus erythematosus, susceptibility to, 1 |
3 | TLR4, ARMD10 | Endotoxin hyporesponsiveness Macular degeneration, age-related, 10 Colorectal cancer, susceptibility to |
3 | DYSF, LGMD2B | Muscular dystrophy, limb-girdle, type 2B Miyoshi myopathy Myopathy, distal, with anterior tibial onset |
3 | GDF1 | Transposition of great arteries, dextro-looped 3 Double-outlet right ventricle Tetralogy of Fallot |
3 | BUB1B, BUBR1 | Colorectal cancer Mosaic variegated aneuploidy syndrome Premature chromatid separation trait |
3 | PRKAG2, WPWS, CMH6 | Wolff-Parkinson-White syndrome Cardiomyopathy, hypertrophic 6, with WPW Glycogen storage disease of heart, lethal congenital |
3 | SLC22A1L, BWSCR1A, IMPT1 | Breast cancer Rhabdomyosarcoma Lung cancer |
3 | CTSC, CPPI, PALS, PLS, HMS, JPD | Papillon-Lefevre syndrome Haim-Munk syndrome Periodontitis, juvenile |
3 | TERC, TRC3, TR | Dyskeratosis congenita, autosomal dominant Aplastic anemia Pulmonary fibrosis, idiopathic, susceptibility to |
3 | HR, AU, MUHH1 | Alopecia universalis Atrichia with papular lesions Hypotrichosis, hereditary, Marie Unna type, 1 |
3 | CRX, CORD2, CRD, LCA7 | Cone-rod retinal dystrophy-2 Leber congenital amaurosis 7 Retinitis pigmentosa, late-onset dominant |
3 | SNAI2, SLUG, WS2D | Waardenburg syndrome, type IID Melanoma metastasis, modification of Piebaldism |
3 | PEX1, ZWS1 | Zellweger syndrome-1 Adrenoleukodystrophy, neonatal Refsum disease, infantile |
3 | MATN3, EDM5, HOA, OS2 | Epiphyseal dysplasia, multiple, 5 Osteoarthritis susceptibility 2 Spondyloepimetaphyseal dysplasia |
3 | TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR | Conotruncal anomaly face syndrome DiGeorge syndrome Velocardiofacial syndrome |
3 | CACNB4, EJM6, EA5, EIG9 | Epilepsy, juvenile myoclonic, susceptibility to, 6 Epilepsy, idiopathic generalized, susceptibility to, 9 Episodic ataxia, type 5 |
3 | JAG1, AGS, AHD | Alagille syndrome Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon |
3 | HESX1, RPX, CPHD5 | Septooptic dysplasia Pituitary hormone deficiency, combined, 5 Growth hormone deficiency with pituitary anomalies |
3 | CASP10, MCH4, ALPS2 | Autoimmune lymphoproliferative syndrome, type II Non-Hodgkin lymphoma, somatic Gastric cancer, somatic |
3 | PLA2G7, PAFAH | Platelet-activating factor acetylhydrolase deficiency Asthma, susceptibility to Atopy, susceptibility to |
3 | HPGD, PGDH1 | Cranioosteoarthropathy Hypertrophic osteoarthropathy, primary, autosomal recessive Digital clubbing, isolated congenital |
3 | MYOC, TIGR, GLC1A, JOAG, GPOA | Glaucoma 1A, primary open angle, juvenile-onset Glaucoma 1A, primary open angle, recessive Glaucoma, early-onset, digenic |
3 | RAPSN, CMS1D, CMS1E | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Fetal akinesia deformation sequence |
3 | CX3CR1, GPR13, V28 | Rapid progression to AIDS from HIV1 infection Coronary artery disease, resistance to Macular degeneration, age-related, susceptibility to |
3 | PTCH1, NBCCS, BCNS, HPE7 | Basal cell nevus syndrome Basal cell carcinoma, somatic Holoprosencephaly-7 |
3 | BMPR1A, ACVRLK3, ALK3 | Polyposis, juvenile intestinal Polyposis syndrome, hereditary mixed, 2 Juvenile polyposis syndrome, infantile form |
3 | PLEC1, PLTN, EBS1 | Muscular dystrophy with epidermolysis bullosa simplex Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with pyloric atresia |
3 | GDF6, CDMP2, MCOP4, SCDO4 | Klippel-Feil syndrome, autosomal dominant Microphthalmia, isolated 4 Spondylocostal dystostosis 4, autosomal dominant |
3 | DCTN1, HMN7B | Neuropathy, distal hereditary motor, type VIIB Amyotrophic lateral sclerosis, susceptibility to Perry syndrome |
3 | MADH4, DPC4, SMAD4, JIP | Pancreatic cancer Polyposis, juvenile intestinal Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
3 | MYO6, DFNA22, DFNB37 | Deafness, autosomal dominant 22 Deafness, autosomal recessive 37 Deafness, sensorineural, with hypertrophic cardiomyopathy |
3 | GDNF | Hirschsprung disease Central hypoventilation syndrome Pheochromocytoma, modifier of |
3 | LAMA3, LOCS | Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign Laryngoonychocutaneous syndrome |
3 | BMPR2, PPH1 | Pulmonary hypertension, familial primary Pulmonary venoocclusive disease Pulmonary hypertension, primary, fenfluramine-associated |
3 | SCNN1G, PHA1, BESC3 | Liddle syndrome Pseudohypoaldosteronism, type I Bronchiectasis with or without elevated sweat chloride 3 |
3 | SCNN1B, BESC1 | Liddle syndrome Pseudohypoaldosteronism, type I Bronchiectasis with or without elevated sweat chloride 1 |
3 | IPF1, MODY4 | Pancreatic agenesis MODY, type IV Diabetes mellitus, type II, susceptibility to |
3 | PTPN22, PEP, PTPN8, LYP | Diabetes, type 1, susceptibility to Rheumatoid arthritis, susceptibility to Systemic lupus erythematosus susceptibility to |
3 | MSH6, GTBP, HNPCC5 | Colorectal cancer, hereditary nonpolyposis, type 5 Endometrial cancer, familial Mismatch repair cancer syndrome |
3 | CPT2 | Myopathy due to CPT II deficiency CPT deficiency, hepatic, type II CPT II deficiency, lethal neonatal |
3 | NKX2-1, TITF1, NKX2A, TTF1 | Goiter, familial, due to TTF-1 defect Chorea, hereditary benign Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
3 | CLCN2, EGMA, ECA2, EGI11, EJM8 | Epilepsy, juvenile myoclonic, susceptibility to, 8 Epilepsy, juvenile absence, susceptibility to, 2 Epilepsy, idiopathic generalized, susceptibility to, 11 |
3 | GCNT2 | Blood group, Ii Adult i phenotype with congenital cataract Adult i phenotype without cataract |
3 | SCN1B, GEFSP1 | Generalized epilepsy with febrile seizures plus Brugada syndrome 5 Cardiac conduction defect, nonspecific |
3 | TBP, SCA17 | Spinocerebellar ataxia 17 Parkinson disease Huntington disease-like-4 |
3 | ABCA1, ABC1, HDLDT1, TGD | Tangier disease HDL deficiency, type 2 Coronary artery disease in familial hypercholesterolemia, protection against |
3 | SHOXY | Short stature, idiopathic familial Leri-Weill dyschondrosteosis Langer mesomelic dysplasia |
3 | SHOX, GCFX, SS, PHOG | Short stature, idiopathic familial Leri-Weill dyschondrosteosis Langer mesomelic dysplasia |
3 | G6PD, G6PD1 | G6PD deficiency Favism Hemolytic anemia due to G6PD deficiency |
3 | F9, HEMB | Hemophilia B Warfarin sensitivity Thrombophilia, X-linked, due to factor IX defect |
3 | NLGN4, KIAA1260, AUTSX2, ASPGX2 | Autism, susceptibility to, X-linked-2 Asperger syndrome, susceptibility to, X-linked-2 Mental retardation, X-linked |
3 | DMD, BMD, CMD3B | Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B |
3 | TIMM8A, DFN1, DDP, MTS, DDP1 | Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome Jensen syndrome |
3 | HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22 | 17-beta-hydroxysteroid dehydrogenase X deficiency Mental retardation, X-linked syndromic 10 Mental retardation, X-linked 17/31, microduplication |
3 | OFD1, CXorf5, SGBS2, JBTS10 | Oral-facial-digital syndrome 1 Simpson-Golabi-Behmel syndrome, type 2 Joubert syndrome 10 |
3 | CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 | Night blindness, congenital stationary, X-linked, type 2A Cone-rod dystrophy, X-linked, 3 Aland Island eye disease |
3 | ATRX, XH2, XNP, SHS, SFM1, MRXHF1 | Alpha-thalassemia/mental retardation syndrome Alpha-thalassemia myelodysplasia syndrome, somatic Mental retardation-hypotonic facies syndrome, X-linked |
3 | ATP7A, MNK, MK, OHS | Menkes disease Occipital horn syndrome Cutis laxa, neonatal |
3 | MYO7A, USH1B, DFNB2, DFNA11 | Usher syndrome, type 1B Deafness, autosomal recessive 2, neurosensory Deafness, autosomal dominant 11, neurosensory |
3 | IDUA, IDA | Mucopolysaccharidosis Ih Mucopolysaccharidosis Is Mucopolysaccharidosis Ih/s |
3 | DHS | Dehydrated hereditary stomatocytosis Pseudohyperkalemia, familial Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema |
3 | UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2 | Hyperuricemic nephropathy, familial juvenile 1 Medullary cystic kidney disease 2 Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
3 | TNNT2, CMH2, CMD1D, RCM3 | Cardiomyopathy, familial hypertrophic, 2 Cardiomyopathy, dilated, 1D Cardiomyopathy, familial restrictive, 3 |
3 | TNNI3, CMH7, CMD2A, RCM1 | Cardiomyopathy, familial hypertrophic, 7 Cardiomyopathy, familial restrictive Cardiomyopathy, dilated, 2A |
3 | TPM2, TMSB, AMCD1, DA1, DA2B, NEM4 | Arthrogryposis multiplex congenita, distal, type 1 Nemaline myopathy Arthrogryposis, distal, type 2B |
3 | TGM1, ICR2, LI1 | Ichthyosis, lamellar, autosomal recessive Ichthyosiform erythroderma, congenital Self-healing collodion baby |
3 | THRB, ERBA2, THR1, PRTH | Thyroid hormone resistance Thyroid hormone resistance, autosomal recessive Thyroid hromone resistance, selective pituitary |
3 | PDGFB, SIS | Meningioma, SIS-related Dermatofibrosarcoma protuberans Giant-cell fibroblastoma |
3 | HRAS | Bladder cancer, somatic Costello syndrome Thyroid carcinoma, follicular, somatic |
3 | HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11 | Renal cysts and diabetes syndrome Diabetes mellitus, noninsulin-dependent Renal cell carcinoma |
3 | THBD, THRM, AHUS6 | Thrombophilia due to thrombomodulin defect Myocardial infarction, susceptibility to Hemolytic uremic syndrome, atypical, susceptibility to, 6 |
3 | TERT, TCS1, EST2 | Aplastic anemia, susceptibility to Pulmonary fibrosis,idiopathic, susceptibility to Dyskeratosis congenita |
3 | NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7 | 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure Premature ovarian failure 7 Adrenocortical insufficiency |
3 | SPTB, SPH2, EL3, HS2 | Elliptocytosis-3 Spherocytosis, type 2 Anemia, neonatal hemolytic, fatal and near-fatal |
3 | SPTA1, EL2, SPH3, HS3, HPP | Elliptocytosis-2 Pyropoikilocytosis Spherocytosis, type 3 |
3 | SOS1, GINGF, GF1, HGF, NS4 | Fibromatosis, gingival Noonan syndrome 4 Noonan-like/multiple giant cell lesion syndrome |
3 | ATP1A2, FHM2, MHP2 | Migraine, familial hemiplegic, 2 Alternating hemiplegia of childhood Migraine, familial basilar |
3 | FUT2, SE, B12QTL1 | Norwalk virus infection, resistance to Bombay phenotype Vitamin B12 plasma level QTL1 |
3 | RHO, RP4, OPN2, CSNBAD1 | Retinitis pigmentosa-4, autosomal dominant Retinitis pigmentosa, autosomal recessive Night blindness, congenital stationery, autosomal dominant 1 |
3 | REN, HNFJ2 | Hyperproreninemia Renal tubular dysgenesis Hyperuricemic nephropathy, familial juvenile 2 |
3 | RAG2 | Severe combined immunodeficiency, B cell-negative Omenn syndrome Combined cellular and humoral immune defects with granulomas |
3 | F2 | Hypoprothrombinemia Dysprothrombinemia Hyperprothrombinemia |
3 | ABCB4, PGY3, MDR3 | Cholestasis, progressive familial intrahepatic 3 Cholestasis, familial intrahepatic, of pregnancy Gallbladder disease 1 |
3 | SPINK1, PSTI, PCTT, TATI | Pancreatitis, hereditary Fibrocalculous pancreatic diabetes, susceptibility to Tropical calcific pancreatitis |
3 | PAX4, MODY9, KPD | Maturity-onset diabetes of the young, type IX Diabetes mellitus, type 2 Diabetes mellitus, ketosis-prone |
3 | MET, AUTS9 | Renal cell carcinoma, papillary, familial and sporadic Hepatocellular carcinoma, childhood type Autism, suseptibility to, 9 |
3 | NRAS, ALPS4 | Colorectal cancer Thyroid carcinoma, follicular Autoimmune lymphoproliferative syndrome type IV |
3 | SNCA, NACP, PARK1, PARK4 | Parkinson disease, familial Parkinson disease 4, autosomal dominant Lewy body Dementia, Lewy body |
3 | NDUFV1, UQOR1 | Leigh syndrome Alexander disease Mitochondrial complex I deficiency |
3 | MPL, TPOR, MPLV | Thrombocytopenia, congenital amegakaryocytic Thrombycytosis, susceptibility to Thrombocythemia, essential |
3 | RMRP, RMRPR, CHH | Cartilage-hair hypoplasia Metaphyseal dysplasia without hypotrichosis Anauxetic dysplasia |
3 | MITF, WS2A | Waardenburg syndrome, type IIA Waardenburg syndrome/ocular albinism, digenic Tietz syndrome |
3 | LTA, TNFB | Myocardial infarction, susceptibility to Psoriatic arthritis, susceptibility to Leprosy, susceptibility to, 4 |
3 | KCNH2, LQT2, HERG, SQT1 | Long QT syndrome-2 Long QT syndrome, acquired, susceptibility to Short QT syndrome-1 |
3 | LIPC, HL, LIPH, HDLCQ12 | Hepatic lipase deficiency High density lipoprotein cholesterol level QTL 12 Diabetes mellitus, noninsulin-dependent |
3 | KRT10 | Epidermolytic hyperkeratosis Nevus, epidermal, epidermolytic hyperkeratotic type Ichthyosis, cyclic, with epidermolytic hyperkeratosis |
3 | IL1RN, MVCD4, DIRA | Gastric cancer risk after H. pylori infection Microvascular complications of diabetes, susceptibility to, 4 Interleukin 1 receptor antagonist deficiency |
3 | ITGB4 | Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa of hands and feet |
3 | FCGR3A, CD16, IGFR3 | Lupus erythematosus, systemic, susceptibility Neutropenia, alloimmune neonatal Viral infections, recurrent |
3 | MSX1, HOX7, HYD1, OFC5, STHAG1 | Tooth agenesis, selective, 1, with or without orofacial cleft Witkop syndrome Orofacial cleft 5 |
3 | HLA-B, SPDA1 | Spondyloarthropathy, susceptibility to, 1 Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to Abacavir hypersensitivity, susceptibility to |
3 | HLA-A | Ankylosing spondylitis, susceptibility to, 1 Stevens-Johnson syndrome, susceptibility to Abacavir hypersensitivity, susceptibility to |
3 | RASA1, GAP, CMAVM, PKWS | Parkes Weber slndrome Capillary malformation-arteriovenous malformation Basal cell carcinoma, somatic |
3 | GLRA1, STHE | Startle disease/hyperekplexia, autosomal dominant Startle disease, autosomal recessive Hyperekplexia and spastic paraparesis |
3 | SLC2A1, GLUT1, DYT18, PED | Glucose transport defect, blood-brain barrier Paroxysmal exertion-induced dyskinesia and hemolytic anemia Dystonia-18 |
3 | GABRD, GEFSP5, EIG10, EJM7 | Generalized epilepsy with febrile seizures plus, type 5, susceptibility to Epilepsy, idiopathic generalized, 10 Epilepsy, juvenile myoclonic, susceptibility to |
3 | FH | Fumarase deficiency Multiple cutaneous and uterine leiomyomata Leiomyomatosis and renal cell cancer |
3 | FLT3 | Leukemia, acute myeloid, reduced survival in Leukemia, acute myeloid Leukemia, acute lymphoblastic |
3 | FGG | Dysfibrinogenemia, gamma type Hypofibrinogenemia, gamma type Thrombophilia, dysfibrinogenemic |
3 | FGB | Dysfibrinogenemia, beta type Afibrinogenemia, congenital Thrombophilia, dysfibrinogenemic |
3 | TNFRSF6, APT1, FAS, CD95, ALPS1A | Autoimmune lymphoproliferative syndrome Squamous cell carcinoma, burn scar-related, somatic Autoimmune lymphoproliferative syndrome, type IA |
3 | EGFR | Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in Adenocarcinoma of lung, response to tyrosine kinase inhibitor in Nonsmall cell lung cancer, susceptibility to |
3 | EDNRB, HSCR2, ABCDS | Hirschsprung disease-2 ABCD syndrome Waardenburg-Shah syndrome |
3 | EDN3 | Shah-Waardenburg syndrome Central hypoventilation syndrome, congenital Hirschsprung disease |
3 | SELE, ELAM1 | IgA nephropathy, susceptiblity to Atherosclerosis, susceptibility to Blood pressure regulation QTL |
3 | EGR2, KROX20 | Neuropathy, congenital hypomyelinating, 1 Charcot-Marie-Tooth disease, type 1D Dejerine-Sottas neuropathy |
3 | DRD5, DRD1B, DRD1L2 | Blepharospasm, primary benign Dystonia, primary cervical Attention deficit-hyperactivity disorder, susceptibility to |
3 | ERCC2, EM9, XPD, COFS2 | Xeroderma pigmentosum, group D Trichothiodystrophy Cerebrooculofacioskeletal syndrome 2 |
3 | NQO1, DIA4, NMOR1 | Benzene toxicity, susceptibility to Leukemia, post-chemotherapy, susceptibility to Breast cancer, poor survival after chemotherapy for |
3 | DES, CMD1I | Myopathy, desmin-related, cardioskeletal Cardiomyopathy, dilated, 1I Scapuloperoneal syndrome, neurogenic, Kaeser type |
3 | IL10, CSIF | HIV-1, susceptibility to Graft-versus-host disease, protection against Rheumatoid arthritis, progression of |
3 | CRYBB2, CRYB2 | Cataract, cerulean, type 2 Cataract, sutural, with punctate and cerulean opacities Cataract, Coppock-like |
3 | CRYAA, CRYA1 | Cataract, zonular central nuclear, autosomal dominant Cataract, congenital, autosomal recessive Cataract, autosomal dominant nuclear |
3 | MSX2, CRS2, HOX8 | Craniosynostosis, type 2 Parietal foramina 1 Parietal foramina with cleidocranial dysplasia |
3 | CYP2A6, CYP2A3, CYP2A, P450C2A | Coumarin resistance Nicotine addiction, protection from Lung cancer, resistance to |
3 | C4A, C4S | C4 deficiency Blood group, Rodgers Systemic lupus erythematosus, susceptibility to or protection against |
3 | C3, ARMD9, AHUS5 | C3 deficiency Macular degeneration, age-related, 9 Hemolytic uremic syndrome, atypical, susceptibility to, 5 |
3 | MLH1, COCA2, HNPCC2 | Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome Muir-Torre syndrome |
3 | COL11A1, STL2 | Stickler syndrome, type II Marshall syndrome Lumbar disc herniation, susceptibility to |
3 | COL9A3, EDM3, IDD | Epiphyseal dysplasia, multiple, 3 Epiphyseal dysplasia, multiple, with myopathy Intervertebral disc disease, susceptibility to |
3 | COL6A2 | Bethlem myopathy Ullrich congenital muscular dystrophy Myosclerosis, congenital |
3 | COL6A1, OPLL | Bethlem myopathy Ullrich congenital muscular dystrophy Ossification of the posterior longitudinal spinal ligaments |
3 | CETP, HDLCQ10 | CETP deficiency Hyperalphalipoproteinemia High density lipoprotein cholesterol level QTL 10 |
3 | CLCN1 | Myotonia congenita, recessive Myotonia congenita, dominant Myotonia levior, recessive |
3 | CP | Hypoceruloplasminemia, hereditary Cerebellar ataxia Hemosiderosis, systemic, due to aceruloplasminemia |
3 | CACNA1S, CACNL1A3, CCHL1A3 | Hypokalemic periodic paralysis Malignant hyperthermia susceptibility 5 Thyrotoxic periodic paralysis, susceptibility to |
3 | FY, GPD, WBCQ1 | Blood group, Duffy system Malaria, vivax, protection against White blood cell count QTL |
3 | ADRB2 | Asthma, nocturnal, susceptibility to Obesity, susceptibility to Beta-2-adrenoreceptor agonist, reduced response to |
3 | CYP19A1, CYP19, ARO | Aromatase deficiency Aromatase excess syndrome Pseudohermaphroditism, female, due to placental aromatase deficiency |
3 | APOB, FLDB, LDLCQ4 | Hypobetalipoproteinemia Hypobetalipoproteinemia, normotriglyceridemic Hypercholesterolemia, due to ligand-defective apo B |
3 | AGT, SERPINA8 | Hypertension, essential, susceptibility to Preeclampsia, susceptibility to Renal tubular dysgenesis |
3 | APP, AAA, CVAP, AD1 | Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants Alzheimer disease 1, familial Dementia, early-onset progressive, autosomal recessive |
3 | NAGA | Schindler disease, type I Kanzaki disease Schindler disease, type III |
3 | ALB | Analbuminemia Dysalbuminemic hyperthyroxinemia Dysalbuminemic hyperzincemia |
3 | H19, D11S813E, ASM1, BWS, WT2 | Beckwith-Wiedemann syndrome Silver-Russell syndrome Wilms tumor 2 |
3 | ACTC1, CMD1R, CMH11, ASD5 | Cardiomyopathy, dilated, 1R Cardiomyopathy, familial hypertrophic, 11 Atrial septal defect 5 |
3 | CHRNG, ACHRG | Myasthenia gravis, neonatal transient Escobar syndrome Multiple pterygium syndrome, lethal type |
3 | CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D | Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, fast-channel congenital Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
3 | CHRND, ACHRD, SCCMS, CMS2A, FCCMS | Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, fast-channel congenital Multiple pterygium syndrome, lethal type |
3 | CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS | Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, fast-channel congenital Multiple pterygium syndrome, lethal type |
3 | ALDH2 | Alcohol sensitivity, acute Hangover, susceptibility to Sublingual nitroglycerin, susceptibility to poor response to |
2 | INPP5E, MORMS, JBTS1, CORS1 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis Joubert syndrome 1 |
2 | DPYD, DPD | Dihydropyrimidine dehydrogenase deficiency 5-fluorouracil toxicity |
2 | CPOX | Coproporphyria Harderoporphyria |
2 | FSGS4 | Focal segmental glomerulosclerosis 4 End-stage renal disease, nondiabetic, susceptibility to |
2 | FECH, FCE | Protoporphyria, erythropoietic, autosomal dominant Protoporphyria, erythropoietic, autosomal recessive |
2 | KNG1, KNG | Kininogen deficiency High molecular weight kininogen deficiency |
2 | PAH, PKU1 | Phenylketonuria Hyperphenylalaninemia, non-PKU mild |
2 | PROC, PC | Thrombophilia due to protein C deficiency, autosomal dominant Thrombophilia due to protein C deficiency, autosomal recessive |
2 | CC2D2A, KIAA1345, MKS6 | Joubert syndrome 9 Meckel syndrome, type 6 |
2 | ATP6V0A2, WSS, ARCL | Cutis laxa, autosomal recessive, type II Wrinkly skin syndrome |
2 | CELIAC6, AIS5 | Celiac disease, susceptibility to, 6 Autoimmune disease, susceptibility to, 5 |
2 | DOCK8, MRD2 | Mental retardation, autosomal dominant 2 Hyper-IgE recurrent infection syndrome, autosomal recessive |
2 | RPGRIP1L, KIAA1005, JBTS7, MKS5 | Joubert syndrome 7 Meckel syndrome, type 5 |
2 | AGL, GDE | Glycogen storage disease IIIa Glycogen storage disease IIIb |
2 | F12, HAF, HAE3 | Factor XII deficiency Angioedema, hereditary, type III |
2 | CYP11B1, P450C11, FHI | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Aldosteronism, glucocorticoid-remediable |
2 | MAT1A, MATA1, SAMS1 | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency Methionine adenosyltransferase deficiency, autosomal recessive |
2 | RAXL1, QRX, CORD11, ARMD6 | Macular degeneration, age-related, 6 Cone-rod dystrophy 11 |
2 | PALB2, FANCN | Fanconi anemia, complementation group N Breast cancer, susceptibility to |
2 | B3GALTL; B3GTL, B3GLCT | Peters-plus syndrome |
2 | DOK7, C4orf25, CMS1B | Myasthenia, limb-girdle, familial Fetal akinesia deformation sequence |
2 | TRMU, MTO2, TRNT1 | Deafness, mitochondrial, modifier of Liver failure, acute infantile |
2 | SLC4A11, BTR1, NABC1, CHED2, CDPD | Corneal endothelial dystrophy 2 Corneal endothelial dystrophy and perceptive deafness |
2 | VANGL1, STBM2 | Caudal regression syndrome Neural tube defects |
2 | MKS1, MKS, BBS13 | Meckel syndrome, type 1 Bardet-Biedl syndrome 13 |
2 | SPATA7, HSD3, LCA3 | Leber congenital amaurosis 3 Retinitis pigmentosa, juvenile, autosomal recessive |
2 | SLC24A2, NCKX4, SHEP6 | Skin/hair/eye pigmentation 6, blond/brown hair Skin/hair/eye pigmentation 6, blue/green eyes |
2 | HMBS, PBGD, UPS | Porphyria, acute intermittent Porphyria, acute intermittent, nonerythroid variant |
2 | PKLR, PK1 | Pyruvate kinase deficiency Adenosine triphosphate, elevated, of erythrocytes |
2 | HPD | Tyrosinemia, type III Hawkinsinuria |
2 | RSPO1, FLJ40906 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal Palmoplantar hyperkeratosis and true hermaphroditism |
2 | CHMP2B, DMT1, VPS2B | Dementia, familial, nonspecific Amyotrophic lateral sclerosis, CHMP2B-related |
2 | FIG4, KIAA0274, SAC3, ALS11 | Charcot-Marie-Tooth disease, type 4J Amyotrophic lateral sclerosis 11 |
2 | ESCO2 | Roberts syndrome SC phocomelia syndrome |
2 | CYP17A1, CYP17, P450C17 | 17-alpha-hydroxylase/17,20-lyase deficiency 17,20-lyase deficiency, isolated |
2 | P2RY5, P2Y5, LAH3 | Hypotrichosis, localized, autosomal recessive, 3 Woolly hair, autosomal recessive |
2 | ERMAP, SC, RD | Blood group, Scianna system Blood group, Radin |
2 | ADA | Severe combined immunodeficiency due to ADA deficiency Adenosine deaminase deficiency, partial |
2 | ARL6, BBS3 | Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1, modifier of |
2 | EFHC1, FLJ10466, EJM1, JAE, EJA1 | Myoclonic epilepsy, juvenile, susceptiblity to, 1 Epilepsy, juvenile absence, susceptibility to, 1 |
2 | TSEN54, SEN54, PCH2A, PCH4 | Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 |
2 | VKORC1, VKOR, VKCFD2, FLJ00289 | Vitamin K-dependent clotting factors, combined deficiency of, 2 Warfarin resistance |
2 | MFN2, KIAA0214, CMT2A2 | Charcot-Marie-Tooth disease, type 2A2 Hereditary motor and sensory neuropathy VI |
2 | SETX, SCAR1, AOA2, ALS4 | Ataxia-ocular apraxia-2 Amyotrophic lateral sclerosis 4, juvenile |
2 | SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4 | Spinocerebellar ataxia, autosomal recessive 8 Emery-Dreifuss muscular dystrophy 4 |
2 | USH2A, RP39 | Usher syndrome, type 2A Retinitis pigmentosa-39 |
2 | NEU1, NEU, SIAL1 | Sialidosis, type I Sialidosis, type II |
2 | EXT1 | Exostoses, multiple, type 1 Chondrosarcoma |
2 | ASPN, PLAP1, OS3 | Osteoarthritis susceptibility 3 Lumbar disc degeneration |
2 | MEFV, MEF, FMF | Familial Mediterranean fever, AR Familial Mediterranean fever, AD |
2 | NHLRC1, EPM2A, EPM2B | Epilepsy, myoclonic, Lafora type Epilepsy, progressive myoclonic 2B |
2 | ANTXR2, CMG2, JHF, ISH | Fibromatosis, juvenile hyaline Hyalinosis, infantile systemic |
2 | HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A | Neuropathy, distal hereditary motor, type IIA Charcot-Marie-Tooth disease, axonal, type 2L |
2 | NPHP3, NPH3 | Nephronophthisis, adolescent Renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst |
2 | WHRN, CIP98, KIAA1526, DFNB31, USH2D | Deafness, autosomal recessive 31 Usher syndrome, type IID |
2 | CACNA1H, EIG6, ECA6 | Epilepsy, idiopathic generalized, susceptibility to, 6 Epilepsy, childhood absence, susceptibility to, 6 |
2 | GNPTAB, GNPTA | Mucolipidosis III alpha/beta Mucolipidosis II alpha/beta |
2 | CLN8, EPMR | Ceroid lipofuscinosis, neuronal 8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant |
2 | ABCA12, ICR2B, LI2 | Ichthyosis, lamellar 2 Ichthyosis, harlequin |
2 | PHF11, NYREN34 | IgE levels QTL Asthma |
2 | PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1 | Hypercholesterolemia, familial, 3 Low density lipoprotein cholesterol level QTL 1 |
2 | ITGA2B, GP2B, CD41B | Glanzmann thrombasthenia, type A Thrombocytopenia, neonatal alloimmune |
2 | CTH | Cystathioninuria Homocysteine, total plasma, elevated |
2 | NPC1, NPC | Niemann-Pick disease, type C1 Niemann-Pick disease, type D |
2 | SMPD1, NPD | Niemann-Pick disease, type A Niemann-Pick disease, type B |
2 | IL23R, IBD17 | Crohn disease, ileal, protection against Psoriasis, protection against |
2 | MGR6, FHM3 | Migraine, familial hemiplegic Migraine with or without aura, susceptibility to |
2 | TPH2, NTPH, ADHD7 | Unipolar depression, susceptibility to Attention deficit-hyperactivity disorder, susceptibility to, 7 |
2 | DYM, FLJ90130, DMC, SMC | Dyggve-Melchior-Clausen disease Smith-McCort dysplasia |
2 | SALL4, HSAL4 | Duane-radial ray syndrome IVIC syndrome |
2 | GPR51, GABBR2 | Nicotine dependence, susceptibility to Nicotine dependence, protection against |
2 | SEMA4A, SEMB, RP35, CORD10 | Retinitis pigmentosa-35 Cone-rod dystrophy 10 |
2 | IRF5, IBD14, SLEB10 | Inflammatory bowel disease 14, susceptibility to Systemic lupus erythematosus, susceptibility to, 10 |
2 | NPHP4, SLSN4 | Nephronophthisis 4 Senior-Loken syndrome 4 |
2 | CRELD1, AVSD2 | Atrioventricular septal defect, susceptibility to, 2 Atrioventricular septal defect, partial, with heterotaxy syndrome |
2 | DTNBP1, HPS7 | Schizophrenia Hermansky-Pudlak syndrome 7 |
2 | MCPH1 | Microcephaly, autosomal recessive 1 Premature chromosome condensation with microcephaly and mental retardation |
2 | PROK2, PK2, BV8, KAL4 | Kallmann syndrome 4 Hypogonadism, hypogonadotropic |
2 | CABC1, COQ8, ADCK3, SCAR9, ARCA2 | Coenzyme Q10 deficiency Spinocerebellar ataxia, autosomal recessive 9 |
2 | COG1, LDLB, KIAA1381, CDG2G | Congenital disorder of glycosylation, type IIg Cerebrocostomandibular-like syndrome |
2 | LCAT | Norum disease Fish-eye disease |
2 | IRAK4, REN64, IPD1 | IRAK4 deficiency Invasive pneumococcal disease, recurrent isolated, 1 |
2 | C1NH, HAE1, HAE2, SERPING1 | Angioedema, hereditary, types I and II Complement component 4, partial deficiency of |
2 | GCLC, GLCLC | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Myocardial infarction, susceptibility to |
2 | FXN, FRDA, FARR, X25 | Friedreich ataxia Friedreich ataxia with retained reflexes |
2 | PRODH, PRODH2, SCZD4 | Hyperprolinemia, type I Schizophrenia, susceptibility to, 4 |
2 | TMC1, DFNB7, DFNB11, DFNA36 | Deafness, autosomal recessive 7 Deafness, autosomal dominant 36 |
2 | EIF2B4 | Leukoencephaly with vanishing white matter Ovarioleukodystrophy |
2 | EDARADD, ED3, EDA3 | Ectodermal dysplasia, anhidrotic, autosomal recessive Ectodermal dysplasia, anhidrotic, autosomal dominant |
2 | ENAM, AIH2, AI1C | Amelogenesis imperfecta, type IB Amelogenesis imperfecta, type IC |
2 | OPA3, MGA3 | 3-methylglutaconic aciduria, type III Optic atrophy and cataract |
2 | ZMPSTE24, FACE1, STE24, MADB | Mandibuloacral dysplasia with type B lipodystrophy Restrictive dermopathy, lethal |
2 | HAMP, LEAP1, HEPC, HFE2 | Hemochromatosis, juvenile Hemochromatosis, juvenile, digenic |
2 | EIF2B2 | Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy |
2 | BSND | Bartter syndrome, type 4a Sensorineural deafness with mild renal dysfunction |
2 | APOA5 | Hypertriglyceridemia, susceptibility to Hyperchylomicronemia, late-onset |
2 | ESPN | Deafness, autosomal recessive 36 Deafness, neurosensory, without vestibular involvement, autosomal dominant |
2 | APTX, AOA, AOA1 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Coenzyme Q10 deficiency |
2 | WNT10A, SSPS | Odontoonychodermal dysplasia Schopf-Schulz-Passarge syndrome |
2 | SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3 | Chromosome 22q13.3 deletion syndrome Autism, chromosome 22q13.3 deletion syndrome-related |
2 | PANK2, NBIA1, PKAN, HARP | Neurodegeneration, pantothenate kinase-associated HARP syndrome |
2 | SLC19A3 | Basal ganglia disease, biotin-responsive Encephalopathy, thiamine-responsive |
2 | SLC2A9, GLUT9, UAQTL2 | Uric acid concentration, serum, QTL 2 Hypouricemia, renal, 2 |
2 | CD96, TACTILE | C syndrome C-like syndrome |
2 | DCLRE1C, ARTEMIS, SCIDA | Severe combined immunodeficiency, Athabascan type Omenn syndrome |
2 | BRIP1, BACH1, FANCJ | Breast cancer, early-onset Fanconi anemia, complementation group J |
2 | HERC2, SHEP1 | Skin/hair/eye pigmentation 1, blue/nonblue eyes Skin/hair/eye pigmentation 1, blond/brown hair |
2 | SOST, VBCH | Sclerosteosis Van Buchem disease |
2 | VAPB, VAPC, ALS8 | Amyotrophic lateral sclerosis 8 Spinal muscular atrophy, late-onset, Finkel type |
2 | SLC26A4, PDS, DFNB4, EVA, TDH2B | Pendred syndrome Enlarged vestibular aqueduct |
2 | RETN, RSTN, FIZZ3 | Diabetes mellitus, noninsulin-dependent, susceptibility to Hypertension, insulin resistance-related, susceptibility to |
2 | ELOVL4, ADMD, STGD2, STGD3 | Stargardt disease 3 Macular dystrophy, autosomal dominant, chromosome 6-linked |
2 | TMPRSS3, ECHOS1, DFNB8, DFNB10 | Deafness, autosomal recessive 8, childhood onset Deafness, autosomal recessive 10, congenital |
2 | CRTAP, CASP | Osteogenesis imperfecta, type IIB Osteogenesis imperfecta, type VII |
2 | ABCG8, GBD4 | Sitosterolemia Gallbladder disease 4 |
2 | RPGRIP1, LCA6, CORD13 | Leber congenital amaurosis 6 Cone-rod dystrophy 13 |
2 | DHH | 46XY partial gonadal dysgenesis, with minifascicular neuropathy 46XY complete gonadal dysgenesis |
2 | IL21R | Lymphoma, diffuse large B-cell IgE, elevated level of |
2 | CFHR3, FHR3, HLF4, CFHL3 | Macular degeneration, age-related, reduced risk of Hemolytic uremic syndrome, atypical, susceptibility to |
2 | USH1C, DFNB18 | Usher syndrome, type 1C Deafness, autosomal recessive 18 |
2 | WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 | Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type II |
2 | DISC1, SCZD9 | Schizophrenia, susceptibility to Schizoaffective disorder, susceptibility to |
2 | HCN4, SSS2 | Sick sinus syndrome 2 Brugada syndrome 8 |
2 | ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD | Craniometaphyseal dysplasia Chondrocalcinosis 2 |
2 | AASS | Hyperlysinemia Saccharopinuria |
2 | CNGB3, ACHM3, ACHM1 | Achromatopsia-3 Macular degeneration, juvenile |
2 | SPINK5, LEKTI | Netherton syndrome Atopy |
2 | TBCE, KCS, KCS1, HRD | Kenny-Caffey syndrome-1 Hypoparathyroidism-retardation-dysmorphism syndrome |
2 | TNFRSF13B, TACI, CVID | Immunoglobulin A deficiency Common variable immunodeficiency |
2 | MKKS, HMCS, KMS, MKS, BBS6 | McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 |
2 | TBX21, TBET | Asthma, aspirin-induced, susceptibility to Asthma and nasal polyps |
2 | EVC | Ellis-van Creveld syndrome Weyers acrodental dysostosis |
2 | EIG7, EJM2 | Epilepsy, idiopathic generalized, susceptibility to, 7 Epilepsy, juvenile myoclonic |
2 | KL, KLOTHO | Coronary artery disease, susceptibility to Tumoral calcinosis, hyperphosphatemic |
2 | RRM2B, P53R2, PEOA5 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 |
2 | FCGR2B, CD32 | Systemic lupus erythematosus, susceptibility to Malaria, resistance to |
2 | PDGFRL, PDGRL, PRLTS | Hepatocellular cancer Colorectal cancer |
2 | FZD4, EVR1 | Exudative vitreoretinopathy Retinopathy of prematurity |
2 | CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15 | Cortical dysplasia-focal epilepsy syndrome Autism, susceptibility to, 15 |
2 | AMACR, CBAS4 | Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect, congenital, 4 |
2 | TCAP, LGMD2G, CMD1N | Muscular dystrophy, limb-girdle, type 2G Cardiomyopathy, dilated, 1N |
2 | NR2E3, PNR, ESCS, RP37 | Enhanced S-cone syndrome Retinitis pigmentosa-37 |
2 | SP110, IFI41, IFI75, VODI | Hepatic venoocclusive disease with immunodeficiency Mycobacterium tuberculosis, susceptibility to |
2 | ACSL6, FACL6, ACS2 | Myelodysplastic syndrome Myelogenous leukemia, acute |
2 | TRPS1 | Trichorhinophalangeal syndrome, type I Trichorhinophalangeal syndrome, type III |
2 | SLC17A5, SIASD, SLD | Salla disease Sialic acid storage disorder, infantile |
2 | TINF2, TIN2 | Dyskeratosis congenita, autosomal dominant Revesz syndrome |
2 | CST3, ARMD11 | Cerebral amyloid angiopathy Macular degeneration, age-related, 11 |
2 | RAD54B | Lymphoma, non-Hodgkin Colon adenocarcinoma |
2 | STAT5B | Leukemia, acute promyelocytic, STAT5B/RARA type Growth hormone insensitivity with immunodeficiency |
2 | CRLF1, CISS | Cold-induced sweating syndrome Crisponi syndrome |
2 | SLC34A2 | Pulmonary alveolar microlithiasis Testicular microlithiasis |
2 | KISS1R, GPR54 | Hypogonadotropic hypogonadism Precocious puberty, central |
2 | SLC7A9, CSNU3 | Cystinuria, type III Cystinuria, type II |
2 | DLEC1, DLC1 | Lung cancer Esophageal cancer |
2 | AXIN2 | Colorectal cancer Oligodontia-colorectal cancer syndrome |
2 | EIF2B5, LVWM, CACH, CLE | Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy |
2 | RP1, ORP1 | Retinitis pigmentosa-1 Hypertriglyceridemia, susceptibility to |
2 | GPH, KIAA1385, GEPH | Molybdenum cofactor deficiency, type C Hyperekplexia |
2 | HABP2, PHBP, HGFAL, FSAP | Carotid stenosis, susceptibility to Venous thromboembolism, susceptibility to |
2 | ITM2B, BRI, ABRI, FBD | Dementia, familial British Dementia, familial Danish |
2 | SLC25A13, CTLN2 | Citrullinemia, adult-onset type II Citrullinemia, type II, neonatal-onset |
2 | AXIN1, AXIN | Hepatocellular carcinoma, somatic Caudal duplication anomaly |
2 | CHST3, C6ST, C6ST1, HSD | Spondyloepiphyseal dysplasia, Omani type Humerospinal dysostosis |
2 | KCNE2, MIRP1, LQT6, ATFB4 | Long QT syndrome-6 Atrial fibrillation, familial, 4 |
2 | CYP7B1, CBAS3, SPG5A | Bile acid synthesis defect, congenital, 3 Spastic paraplegia-5A |
2 | ZFPM2, FOG2, DIH3 | Tetralogy of Fallot Diaphragmatic hernia 3 |
2 | OTOF, DFNB9, NSRD9, AUNB1 | Deafness, autosomal recessive 9 Auditory neuropathy, autosomal recessive, 1 |
2 | PTCH2 | Medulloblastoma Basal cell carcinoma, somatic |
2 | COX15 | Cardiomyopathy, hypertrophic, early-onset fatal Leigh syndrome due to cytochrome c oxidase deficiency |
2 | LARGE, KIAA0609, MDC1D | Muscular dystrophy, congenital, type 1D Walker-Warburg syndrome |
2 | EYA4, DFNA10, CMD1J | Deafness, autosomal dominant 10 Cardiomyopathy, dilated, 1J |
2 | WNT4, SERKAL | SERKAL syndrome Mullerian aplasia and hyperandrogenism |
2 | WISP3, PPAC, PPD | Arthropathy, progressive pseudorheumatoid, of childhood Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
2 | GLE1, GLE1L, LCCS, LCCS1 | Lethal congenital contracture syndrome 1 Arthrogryposis, lethal, with anterior horn cell disease |
2 | DYNC2H1, DNCH2, DHC2, ATD3 | Asphyxiating thoracic dystrophy 3 Short rib-polydactyly syndrome, type III |
2 | BMPR1B, ALK6 | Brachydactyly, type A2 Chrondrodysplasia, acromesomelic, with genital anomalies |
2 | ABCC6, ARA, ABC34, MLP1, PXE | Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste |
2 | ABCB11, BSEP, SPGP, PFIC2, BRIC2 | Cholestasis, progressive familial intrahepatic 2 Cholestasis, benign recurrent intrahepatic, 2 |
2 | B3GALT3, GLCT3, P | Blood group, P system Urinary tract infection, susceptibility to |
2 | TLR2, TIL4 | Leprosy, susceptibility to Colorectal cancer, susceptibility to |
2 | PICALM, CALM, CLTH, LAP | Leukemia, acute myeloid Leukemia, acute T-cell lymphoblastic |
2 | PEX10, NALD | Zellweger syndrome Adrenoleukodystrophy, neonatal |
2 | GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C, USH2B | Convulsions, familial febrile, 4 Usher syndrome, type IIC |
2 | CLCN7, CLC7, OPTA2, OPTB4 | Osteopetrosis, autosomal recessive 4 Osteopetrosis, autosomal dominant 2 |
2 | EP300 | Colorectal cancer Rubinstein-Taybi syndrome |
2 | NDUFS4, AQDQ | Leigh syndrome Mitochondrial complex I deficiency |
2 | MAD1L1, TXBP181 | Lymphoma, somatic Prostate cancer, somatic |
2 | SLC37A4, G6PT1 | Glycogen storage disease Ib Glycogen storage disease Ic |
2 | NBS1, NBS | Nijmegen breakage syndrome Leukemia, acute lymphoblastic |
2 | TGIF, HPE4 | Holoprosencephaly-4 Hypotrichosis simplex, contiguous gene syndrome with |
2 | TECTA, DFNA8, DFNA12, DFNB21 | Deafness, autosomal dominant 8/12 Deafness, autosomal recessive 21 |
2 | MTRR | Homocystinuria-megaloblastic anemia, cbl E type Neural tube defects, folate-sensitive, susceptibility to |
2 | DJ1, PARK7 | Parkinson disease 7, autosomal recessive early-onset Amyotrophic lateral sclerosis-Parkinsonism/dementia complex 2 |
2 | HSF4, CTM | Cataract, Marner type Cataract, lamellar |
2 | OPTN, GLC1E, FIP2, HYPL, NRP | Glaucoma 1, open angle, E Glaucoma, normal tension, susceptibility to |
2 | SDHC, PGL3 | Paragangliomas, familial nonchromaffin, 3 Paraganglioma and gastric stromal sarcoma |
2 | AF10 | Leukemia, acute myeloid Leukemia, acute T-cell lymphoblastic |
2 | FOXC2, FKHL14, MFH1 | Lymphedema-distichiasis syndrome Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus |
2 | ATP8B1, FIC1, BRIC, PFIC1 | Cholestasis, progressive familial intrahepatic 1 Cholestasis, benign recurrent intrahepatic |
2 | DNM2, CMTDIB, CMTDI1 | Charcot-Marie-Tooth disease, dominant intermediate B Myopathy, centronuclear |
2 | ROR2, BDB1, BDB, NTRKR2 | Brachydactyly, type B1 Robinow syndrome, autosomal recessive |
2 | AGRP, ART, AGRT | Obesity, late-onset Leanness, inherited |
2 | TRIM32, HT2A, LGMD2H, BBS11 | Muscular dystrophy, limb-girdle, type 2H Bardet-Biedl syndrome 11 |
2 | CD151, PETA3, SFA1, MER2 | Nephropathy with pretibial epidermolysis bullosa and deafness Blood group, Raph |
2 | KCNQ2, EBN1 | Epilepsy, benign, neonatal, type 1 Myokymia with neonatal epilepsy |
2 | SALL1, HSAL1, TBS | Townes-Brocks syndrome Townes-Brocks branchiootorenal-like syndrome |
2 | HSPB1, HSP27, CMT2F, HMN2B | Neuropathy, distal hereditary motor, type IIB Charcot-Marie-Tooth disease, axonal, type 2F |
2 | HTRA1, PRSS11, ARMD7 | Macular degeneration, age-related, 7 Macular degeneration, age-related, neovascular type |
2 | FGF10 | Aplasia of lacrimal and salivary glands LADD syndrome |
2 | KLF6, COPEB, BCD1, ZF9 | Prostate cancer, somatic Gastric cancer, somatic |
2 | CLCNKB | Bartter syndrome, type 3 Bartter syndrome, type 4, digenic |
2 | RFX5 | Bare lymphocyte syndrome, type II, complementation group C Bare lymphocyte syndrome, type II, complementation group E |
2 | LIG4 | LIG4 syndrome Multiple myeloma, resistance to |
2 | PEX13, ZWS, NALD | Zellweger syndrome Adrenoleukodystrophy, neonatal |
2 | VDR | Rickets, vitamin D-resistant, type IIA Osteoporosis, involutional |
2 | PEX7, RCDP1 | Rhizomelic chondrodysplasia punctata, type 1 Refsum disease |
2 | GALNT3, HHS, HFTC | Tumoral calcinosis, hyperphosphatemic, familial Hyperostosis-hyperphosphatemia syndrome |
2 | TWIST, ACS3, SCS | Saethre-Chotzen syndrome Saethre-Chotzen syndrome with eyelid anomalies |
2 | HADHSC, SCHAD, HHF4 | 3-hydroxyacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia, familial, 4 |
2 | SMARCB1, SNF5, INI1, RDT | Rhabdoid tumors Rhabdoid predisposition syndrome, familial |
2 | WNT7A | Ulna and fibula, absence of, with sever limb deficiency Fuhrmann syndrome |
2 | PAFAH1B1, LIS1 | Lissencephaly-1 Subcortical laminar heterotopia |
2 | CHI3L1, GP39, YKL40, ASRT7 | Schizophrenia, susceptiblity to Asthma-related traits, susceptibility to, 7 |
2 | PEX6, PXAAA1, PAF2 | Peroxisomal biogenesis disorder, complementation group 4 Peroxisomal biogenesis disorder, complementation group 6 |
2 | SGCD, SGD, LGMD2F, CMD1L | Muscular dystrophy, limb-girdle, type 2F Cardiomyopathy, dilated, 1L |
2 | DTNA, D18S892E, DRP3, LVNC1 | Left ventricular noncompaction with congenital heart defects Left ventricular noncompaction, familial isolated, 1 |
2 | HMPS1, CRAC1, CRCS4 | Polyposis syndrome, mixed hereditary 1 Colorectal cancer, susceptibility to, 4 |
2 | SIX1, BOS3, DFNA23 | Brachiootic syndrome 3 Deafness, autosomal dominant 23 |
2 | CCL11, SCYA11 | HIV1, resistance to Asthma, susceptibility to |
2 | CYP2C9 | Tolbutamide poor metabolizer Warfarin sensitivity |
2 | FOXE3, FKHL12, ASMD | Anterior segment mesenchymal dysgenesis Aphakia, congenital primary |
2 | GSS, GSHS | Hemolytic anemia due to glutathione synthetase deficiency Glutathione synthetase deficiency |
2 | TNXB, TNX, TNXB1, TNXBS, TNXB2 | Ehlers-Danlos due to tenascin X deficiency Ehlers-Danlos syndrome, hypermobility type |
2 | NR3C2, MLR, MCR | Pseudohypoaldosteronism type I, autosomal dominant Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy |
2 | MYBPC3, CMH4 | Cardiomyopathy, familial hypertrophic, 4 Cardiomyopathy, dilated |
2 | CRYBB1, CATCN3 | Cataract, pulverulent Cataract, congenital nuclear, autosomal recessive 3 |
2 | GFI1, ZNF163, SCN2 | Neutropenia, severe congenital, autosomal dominant 2 Neutropenia, nonimmune chronic idiopathic, of adults |
2 | SDHA, SDH1, SDHF | Leigh syndrome Mitochondrial respiratory chain complex II deficiency |
2 | CSRP3, CRP3, CLP, CMD1M, CMH12 | Cardiomyopathy, dilated, 1M Cardiomyopathy, familial hypertrophic, 12 |
2 | PSEN2, AD4, STM2 | Alzheimer disease-4 Cardiomyopathy, dilated, 1V |
2 | IHH, BDA1 | Acrocapitofemoral dysplasia Brachydactyly, type A1 |
2 | PPT1, CLN1 | Ceroid lipofuscinosis, neuronal-1, infantile Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits |
2 | LPP | Lipoma Leukemia, acute myeloid |
2 | SLC16A1, MCT1, HHF7 | Erythrocyte lactate transporter defect Hyperinsulinemic hypoglycemia, familial, 7 |
2 | KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3 | Long QT syndrome-7 Short QT syndrome-3 |
2 | XRCC3 | Melanoma, cutaneous malignant, susceptibility to Breast cancer, susceptibility to |
2 | FEOM3 | Fibrosis of extraocular muscles, congenital, 3 Fibrosis, congenital, of vertically acting extraocular muscles |
2 | STAT4, SLEB11 | Rheumatoid arthritis, association with Systemic lupus erythematous, association with susceptibility to, 11 |
2 | STAT1 | Mycobacterial infection, atypical, familial disseminated STAT1 deficiency, complete |
2 | DLX3, TDO, AI4 | Trichodontoosseous syndrome Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism |
2 | ECE1 | Hirschsprung disease, cardiac defects, and autonomic dysfunction Hypertension, essential, susceptibility to |
2 | PEX5, PXR1, PTS1R | Adrenoleukodystrophy, neonatal Zellweger syndrome |
2 | COMP, EDM1, MED, PSACH | Pseudoachondroplasia Epiphyseal dysplasia, multiple 1 |
2 | GARS, SMAD1, CMT2D, HMN5 | Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type V |
2 | HNF4A, TCF14, MODY1 | MODY, type I Diabetes mellitus, noninsulin-dependent |
2 | NRAMP1, NRAMP, SLC11A1 | Mycobacterium tuberculosis, susceptibility to infection by Buruli ulcer, susceptibility to |
2 | PMS2, PMSL2, HNPCC4 | Mismatch repair cancer syndrome Colorectal cancer, hereditary nonpolyposis, type 4 |
2 | SCNN1A, BESC2 | Pseudohypoaldosteronism, type I Bronchiectasis with or without elevated sweat chloride 2 |
2 | GCH1, DYT5, HPABH4B | Dystonia, DOPA-responsive, with or without hyperphenylalainemia Hyperpehnylalaninemia, BH4-deficient, B |
2 | RUNX2, CBFA1, PEBP2A1, AML3 | Cleidocranial dysplasia Dental anomalies, isolated |
2 | GUCY2D, GUC2D, LCA1, CORD6, RCD2 | Leber congenital amaurosis 1 Cone-rod dystrophy 6 |
2 | SGCA, ADL, DAG2, LGMD2D, DMDA2 | Muscular dystrophy, limb-girdle, type 2D Adhalinopathy, primary |
2 | MMP13, CLG3, MANDP1 | Spondyloepimetaphyseal dysplasia, Missouri type Metaphyseal anadysplasia 1 |
2 | BAX | Colorectal cancer T-cell acute lymphoblastic leukemia |
2 | LBR, PHA | Pelger-Huet anomaly Greenberg dysplasia |
2 | MXI1 | Neurofibrosarcoma Prostate cancer, susceptibility to |
2 | MHC2TA, C2TA | Bare lymphocyte syndrome, type II, complementation group A Rheumatoid arthritis, susceptibility to |
2 | SRY, TDF, TDY | 46XY complete gonadal dysgenesis 46XX true true hermaphroditism |
2 | XK | McLeod syndrome McLeod syndrome with neuroacanthosis |
2 | SOX3, MRGH | Mental retardation, X-linked, with isolated growth hormone deficiency Panhypopituitarism, X-linked |
2 | VSPA | Turner syndrome-associated neurocognitive phenotype Visuospatial/perceptual abilities |
2 | MYP1, BED | Myopia-1 Bornholm eye disease |
2 | FMR1, FRAXA | Fragile X syndrome Fragile X tremor/ataxia syndrome |
2 | IL2RG, SCIDX1, SCIDX, IMD4 | Severe combined immunodeficiency, X-linked Combined immunodeficiency, X-linked, moderate |
2 | HPRT1, HPRT | Lesch-Nyhan syndrome HPRT-related gout |
2 | OPN1LW, RCP, CBP, CBBM | Colorblindness, protan Blue-cone monochromacy |
2 | OPN1MW, GCP, CBD, CBBM | Colorblindness, deutan Blue-cone monochromacy |
2 | ALAS2, ANH1, ASB | Anemia, sideroblastic, X-linked Protoporphyria, erythropoietic, X-linked dominant |
2 | PHKA2, PHK, XLG, PHK, PYKL, GSD9A | Glycogen storage disease, type IXa1 Glycogen storage disease, type IXa2 |
2 | NDP, ND | Norrie disease Exudative vitreoretinopathy, X-linked |
2 | GLA | Fabry disease Fabry disease, cardiac variant |
2 | FGD1, FGDY, AAS | Aarskog-Scott syndrome Mental retardation, X-linked nonsyndromic |
2 | AVPR2, DIR, DI1, ADHR | Diabetes insipidus, nephrogenic Nephrogenic syndrome of inappropriate antidiuresis |
2 | OCRL, LOCR, OCRL1, NPHL2 | Lowe syndrome Dent disease 2 |
2 | PDHA1, PHE1A | Pyruvate dehydrogenase deficiency Leigh syndrome, X-linked |
2 | DAX1, AHC, AHX, NROB1 | Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism Dosage-sensitive sex reversal |
2 | PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8 | Renpenning syndrome Golabi-Ito-Hall syndrome |
2 | ED1, EDA, HED | Ectodermal dysplasia, anhidrotic, X-linked Hypodontia, X-linked |
2 | PLP1, PMD, HLD1 | Pelizaeus-Merzbacher disease Spastic paraplegia-2 |
2 | ABCD1, ALD, AMN | Adrenoleukodystrophy Adrenomyeloneuropathy |
2 | NLGN3, ASPGX1, AUTSX1 | Autism, susceptibility to, X-linked-1 Asperger syndrome, susceptibility to, X-linked-1 |
2 | CUL4B, MRXSC, MRXHF2, SFM2 | Mental retardation syndrome, X-linked, Cabezas type Mental retardation-hypotonic facies syndrome, X-linked, 2 |
2 | BTK, AGMX1, IMD1, XLA, AT | Agammaglobulinemia, type 1, X-linked Agammaglobulinemia and isolated hormone deficiency |
2 | FOXP3, IPEX, AIID, XPID, PIDX | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked Diabetes mellitus, type I, susceptibility to |
2 | BMP15, GDF9B, ODG2, POF4 | Ovarian dysgenesis 2 Premature ovarian failure 4 |
2 | CDKL5, STK9, ISSX | Epileptic encephalopathy, early infantile, 2 Angelman syndrome-like |
2 | MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1 | Opitz-Kaveggia syndrome Lujan-Fryns syndrome |
2 | CASK, MICPCH, FGS4, CMG | Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4 |
2 | DKC1, DKC | Dyskeratosis congenita-1 Hoyeraal-Hreidarsson syndrome |
2 | DCX, DBCN, LISX | Lissencephaly, X-linked Subcortical laminal heteropia, X-linked |
2 | RPS6KA3, RSK2, MRX19 | Coffin-Lowry syndrome Mental retardation, X-linked nonspecific, type 19 |
2 | GPC3, SDYS, SGBS1 | Simpson-Golabi-Behmel syndrome, type 1 Wilms tumor, somatic |
2 | LIPA | Wolman disease Cholesteryl ester storage disease |
2 | PRSS1, TRY1 | Trypsinogen deficiency Pancreatitis, hereditary |
2 | TBXAS1, GHOSAL, CYP5 | Thromboxane synthase deficiency Ghosal syndrome |
2 | F11 | Factor XI deficiency, autosomal recessive Factor XI deficiency, autosomal dominant |
2 | MVK, MVLK | Mevalonic aciduria Hyper-IgD syndrome |
2 | CYB5R3, DIA1, B5R | Methemoglobinemia, type I Methemoglobinemia, type II |
2 | DLD, LAD, PHE3 | Maple syrup urine disease, type III Leigh syndrome |
2 | CBS | Homocystinuria, B6-responsive and nonresponsive types Thrombosis, hyperhomocysteinemic |
2 | F7 | Factor VII deficiency Myocardial infarction, decreased susceptibility to |
2 | HSD11B2, HSD11K | Apparent mineralocorticoid excess, hypertension due to Hypertension, mild low-renin |
2 | C6 | C6 deficiency Combined C6/C7 deficiency |
2 | CFI, FI, AHUS3 | Complement factor I deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 3 |
2 | C2 | C2 deficiency Macular degeneration, age-related, reduced risk of |
2 | CYP21A2, CYP21, CA21H | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
2 | VWF, F8VWF | von Willebrand disease, autosomal dominant von Willebrand disease, autosomal recessive |
2 | ITGA2, CD49B, BR | Neonatal alloimmune thrombocytopenia Glycoprotein Ia deficiency |
2 | NTRK1, TRKA, MTC | Insensitivity to pain, congenital, with anhidrosis Medullary thyroid carcinoma, familial |
2 | KDR | Hemangioma, capillary infantile, somatic Hemangioma, capillary infantile, susceptibility to |
2 | TSC2, LAM | Tuberous sclerosis-2 Lymphangioleiomyomatosis, somatic |
2 | TNNC1, CMD1Z | Cardiomyopathy, dilated, 1Z Cardiomyopathy, familial hypertrophic |
2 | TPM1, CMH3, CMD1Y | Cardiomyopathy, familial hypertrophic, 3 Cardiomyopathy, dilated, 1Y |
2 | NOTCH1, TAN1 | Aortic valve disease Leukemia, T-cell acute lymphoblastic |
2 | TGFBR1, ALK5, AAT5, LDS2A, LDS1A | Loeys-Dietz syndrome, type 1A Loeys-Dietz syndrome, type 2A |
2 | TGFB1, DPD1, CED | Camurati-Engelmann disease Cystic fibrosis lung disease, modifier of |
2 | TF | Atransferrinemia Iron deficiency anemia, susceptibility to |
2 | TG, AITD3, TDH3 | Thyroid dyshormonogenesis 3 Autoimmune thyroid disease, susceptibility to 3 |
2 | CCL5, SCYA5, D17S136E, TCP228 | HIV-1 disease, delayed progression of HIV-1 disease, rapid progression of |
2 | CD4 | CD4+ lymphocyte deficiency Lupus erythematosus, susceptibility to |
2 | CD3E | Immunodeficiency due to defect in CD3-epsilon Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive |
2 | KITLG, MGF, SF, SCF, SHEP7 | Skin/hair/eye pigmentation 7, blond/brown hair Hyperpigmentation, familial progressive |
2 | SOX2, MCOPS3 | Microphthalmia, syndromic 3 Optic nerve hypoplasia and abnormalities of the central nervous system |
2 | SCN2A1, SCN2A | Seizures, afebrile Seizures, benign familial neonatal-infantile |
2 | SLC6A4, HTT, OCD1 | Anxiety-related personality traits Obsessive-compulsive disorder 1 |
2 | SAG, RP47 | Oguchi disease-1 Retinitis pigmentosa-47 |
2 | RYR2, VTSIP, ARVD2, ARVC2 | Ventricular tachycardia, catecholaminergic polymorphic, 1 Arrhythmogenic right ventricular dysplasia 2 |
2 | RHAG, RH50A | Anemia, hemolytic, Rh-null, regulator type Rh-mod syndrome |
2 | PDE6B, PDEB, RP40, CSNBAD2 | Night blindness, congenital stationary, autosomal dominant 2 Retinitis pigmentosa-40 |
2 | RPE65, RP20, LCA2 | Leber congenital amaurosis 2 Retinitis pigmentosa-20 |
2 | MAF | Cataract, pulverulent, juvenile-onset Cataract, congenital, cerulean type, 4 |
2 | POMC | Obesity, adrenal insufficiency, and red hair due to POMC deficiency Obesity, early-onset, susceptibility to |
2 | ZBTB16, ZNF145, PLZF | Leukemia, acute promyelocytic, PL2F/RARA type Skeletal defects, genital hypoplasia, and mental retardation |
2 | KCNE1, JLNS, LQT5, JLNS2 | Jervell and Lange-Nielsen syndrome 2 Long QT syndrome-5 |
2 | UROD | Porphyria cutanea tarda Porphyria, hepatoerythropoietic |
2 | SELP, GRMP | Platelet alpha/delta storage pool deficiency Atopy, susceptibility to |
2 | PDGFRA | Gastrointestinal stromal tumor, somatic Hypereosinophilic syndrome, idiopathic, resistant to imatinib |
2 | PDGFRB, PDGFR | Myeloproliferative disorder with eosinophilia Myelomonocytic leukemia, chronic |
2 | PLAT, TPA | Thrombophilia, familial, due to decreased release of PLAT Hyperfibrinolysis, familial, due to increased release of PLAT |
2 | PAI1, PLANH1, SERPINE1 | Thrombophilia due to excessive plasminogen activator inhibitor Hemorrhagic diathesis due to PAI1 deficiency |
2 | JUP, DP3, PDGB, ARVD12 | Naxos disease Arrhythmogenic right ventricular dysplasia, familial, 12 |
2 | PHKG2, GSD9C | Glycogen storage disease IXc Cirrhosis due to liver phosphorylase kinase deficiency |
2 | MTHFD, MTHFC | Spina bifida, folate-sensitive, susceptibility to Abruptio placentae, susceptibility to |
2 | GPI | Hemolytic anemia due to glucosephosphate isomerase deficiency Hydrops fetalis, one form |
2 | ABCB1, PGY1, MDR1, IBD13 | Colchicine resistance Inflammatory bowel disease 13, susceptibility to |
2 | PXMP3, PAF1, PMP35, PEX2 | Zellweger syndrome-3 Refsum disease, infantile form |
2 | PRF1, HPLH2, FLH2 | Hemophagocytic lymphohistiocytosis, familial, 2 Lymphoma, non-Hodgkin |
2 | TAP2, ABCB3, PSF2, RING11 | Bare lymphocyte syndrome, type I, due to TAP2 deficiency Wegener-like granulomatosis |
2 | CCND1, PRAD1, BCL1 | Colorectal cancer, susceptibility to von Hippel-Lindau disease, modification of |
2 | PTH | Hypoparathyroidism, autosomal dominant Hypoparathyroidism, autosomal recessive |
2 | PAX2 | Optic nerve coloboma with renal disease Renal hypoplasia, isolated |
2 | GLI2, HPE9 | Pituitary anomalies with holoprosencephaly-like features Holoprosencephaly-9 |
2 | MYCN, NMYC, ODED, MODED | Feingold syndrome Microcephaly and digital abnormalities with normal intelligence |
2 | RAF1, CRAF, NS5 | Noonan syndrome 5 LEOPARD syndrome 2 |
2 | OAS1, OIAS | Viral infection, susceptibility to Diabetes mellitus, type 1, susceptibility to |
2 | LEP, OB | Obesity, severe, due to leptin deficiency Obesity, morbid, with hypogonadism |
2 | NPM1 | Leukemia, acute promyelocytic, NPM/RARA type Leukemia, acute myeloid |
2 | NOS2A, NOS2 | Hypertension, susceptibility to Malaria, resistance to |
2 | CXCR4, D2S201E, NPY3R, WHIM | WHIM syndrome Myelokathexis, isolated |
2 | NEFL, CMT2E, CMT1F | Charcot-Marie-Tooth disease, type 2E Charcot-Marie-Tooth disease, type 1F |
2 | PCSK1, NEC1, PC1, PC3, BMIQ12 | Obesity with impaired prohormone processing Obesity, susceptiblity to, BMIQ12 |
2 | NRL, D14S46E, RP27 | Retinitis pigmentosa-27 Retinal degeneration, autosomal recessive, clumped pigment type |
2 | IL12B, NKSF2 | BCG and salmonella infection, disseminated Asthma, susceptibility to |
2 | MYL2, CMH10 | Cardiomyopathy, hypertrophic, mid-left ventricular chamber type Cardiomyopathy, familial hypertrophic, 10 |
2 | MYH8 | Carney complex variant Trismus-pseudocamptodactyly syndrome |
2 | MYH3 | Arthrogryposis, distal, type 2A Arthrogryposis, distal, type 2B |
2 | MYH6, ASD3, MYHCA | Cardiomyopathy, familial hypertrophic Atrial septal defect 3 |
2 | MYF6 | Myopathy, centronuclear Becker muscular dystrophy modifier |
2 | MTP | Abetalipoproteinemia Metabolic syndrome, protection against |
2 | LAMA2, LAMM | Muscular dystrophy, congenital merosin-deficient Muscular dystrophy, congenital, due to partial LAMA2 deficiency |
2 | ACAN, AGC1, CSPG1, MSK16, SEDK | Spondyloepiphyseal dysplasia, Kimberley type Spondyloepimetaphyseal dysplasia, aggrecan type |
2 | MC3R, BMIQ9 | Obesity, severe, susceptibility to, BMIQ9 Mycobacterium tuberculosis, protection against |
2 | MGP, NTI | Keutel syndrome Natural teeth remaining intact |
2 | ME2, ODS1 | Epilepsy, idopathic generalized, susceptibility to Opioid dependence, susceptibility to |
2 | PLOD, PLOD1 | Ehlers-Danlos syndrome, type VI Nevo syndrome |
2 | LHB | Hypogonadism, hypergonadotropic Male pseudohermaphroditism due to defective LH |
2 | LOR | Vohwinkel syndrome with ichthyosis Erythrokeratoderma, progressive symmetric |
2 | ALOX5 | Atherosclerosis, susceptibility to Asthma, diminished response to antileukotriene treatment in |
2 | LPA | Coronary artery disease, susceptibility to LPA deficiency, congenital |
2 | PTPRC, CD45, LCA | Hepatitic C virus, susceptibility to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive |
2 | BCR, CML, PHL, ALL | Leukemia, chronic myeloid Leukemia, acute lymphocytic |
2 | RUNX1, CBFA2, AML1 | Leukemia, acute myeloid Platelet disorder, familial, with associated myeloid malignancy |
2 | LAMB2, LAMS | Nephrosis, congenital, with or without ocular abnormalities Pierson syndrome |
2 | LAMB3 | Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, junctional, non-Herlitz type |
2 | LAMC2, LAMNB2, LAMB2T | Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, junctional, non-Herlitz type |
2 | KRT18 | Cirrhosis, cryptogenic Cirrhosis, noncryptogenic, susceptibility to |
2 | KRT17, PC2, PCHC1 | Pachyonychia congenita, Jackson-Lawler type Steatocystoma multiplex |
2 | KRT8 | Cirrhosis, cryptogenic Cirrhosis, noncryptogenic, susceptibility to |
2 | IL4R, IL4RA | Atopy, susceptibility to AIDS, slow progression to |
2 | IL2RA, IL2R, IDDM10 | Interleukin-2 receptor, alpha chain, deficiency of Diabetes, mellitus, insulin-dependent, susceptibility to, 10 |
2 | IL13, ALRH, BHR1 | Asthma, susceptibility to Allergic rhinitis, susceptibility to |
2 | IRS1 | Diabetes mellitus, noninsulin-dependent Coronary artery disease, susceptibility to |
2 | IMPDH1, RP10, LCA11 | Retinitis pigmentosa-10 Leber congenital amaurosis 11 |
2 | CHX10, HOX10, MCOP2, MCOPCB3 | Microphthalmia, isolated, with coloboma 3 Microphthalmia, isolated 2 |
2 | HOXD10, HOX4D | Vertical talus, congenital Charcot-Marie-Tooth disease, foot deformity of |
2 | HOXA13, HOX1J | Hand-foot-uterus syndrome Guttmacher syndrome |
2 | HOXA1, HOX1F, BSAS | Bosley-Salih-Alorainy syndrome Athabaskan brainstem dysgenesis syndrome |
2 | HMGCR, LDLCQ3 | Statins, attenuated cholesterol lowering by Low density lipoprotein cholesterol level QTL 3 |
2 | HRG | Thrombophilia due to HRG deficiency Thrombophilia due to elevated HRG |
2 | HSPG2, PLC, SJS, SJA, SJS1 | Schwartz-Jampel syndrome, type 1 Dyssegmental dysplasia, Silverman-Handmaker type |
2 | HBD | Thalassemia, delta- Thalassemia due to Hb Lepore |
2 | HMOX1 | Heme oxygenase-1 deficiency Pulmonary disease, chronic obstructive, susceptibility to |
2 | HP | Anhaptoglobinemia Hypohaptoglobinemia |
2 | GNAI2, GNAI2B, GIP | Pituitary ACTH-secreting adenoma Ventricular tachycardia, idiopathic |
2 | GHRH, GHRF | Isolated growth hormone deficiency due to defect in GHRF Gigantism due to GHRF hypersecretion |
2 | GNRHR, LHRHR | Hypogonadotropic hypogonadism Fertile eunuch syndrome |
2 | GP1BB | Bernard-Soulier syndrome, type B Giant platelet disorder, isolated |
2 | CFB, BF, GBG, AHUS4 | Macular degeneration, age-related, reduced risk of Hemolytic uremic syndrome, atypical, susceptibility to, 4 |
2 | SLC2A2, GLUT2 | Diabetes mellitus, noninsulin-dependent Fanconi-Bickel syndrome |
2 | GABRB3, ECA5 | Insomnia Epilepsy, childhood absence, susceptibility to, 5 |
2 | GGCX | Vitamin K-dependent coagulation defect Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency |
2 | GABRA1, EJM5, ECA4 | Epilepsy, juvenile myoclonic, susceptibility to, 5 Epilepsy, childhood absence, susceptibility to, 4 |
2 | FLT4, VEGFR3, PCL, LMPH1A | Lymphedema, hereditary I Hemangioma, capillary infantile, somatic |
2 | FLG, ATOD2 | Ichthyosis vulgaris Dermatitis, atopic, susceptibility to, 2 |
2 | FTL | Hyperferritinemia-cataract syndrome Basal ganglia disease, adult-onset |
2 | CFHR1, FHR1, HFL1, CFHL1 | Macular degeneration, age-related, reduced risk of Hemolytic uremic syndrome, atypical, susceptibility to |
2 | ERCC5, XPG, COFS3 | Xeroderma pigmentosum, group G Cerebrooculofacioskeletal syndrome 3 |
2 | ERCC4, XPF | Xeroderma pigmentosum, group F XFE progeroid syndrome |
2 | ERCC3, XPB | Xeroderma pigmentosum, group B Trichothiodystrophy |
2 | EWSR1, EWS | Ewing sarcoma Neuroepithelioma |
2 | MSSE, ESS1 | Epithelioma, self-healing, squamous 1, Ferguson-Smith type Basal cell carcinoma |
2 | ELN | Supravalvar aortic stenosis Cutis laxa, AD |
2 | ELANE, ELA2, SCN1 | Hematopoiesis, cyclic Neutropenia, severe congenital, autosomal dominant 1 |
2 | SLC26A3, DRA, CLD | Colon cancer Chloride diarrhea, congenital, Finnish type |
2 | DRD3, ETM1, FET1 | Schizophrenia, susceptibility to Essential tremor, susceptibility to |
2 | DSG2, ARVD10, ARVC10, CMD1BB | Arrhythmogenic right ventricular dysplasia, familial, 10 Cardiomyopathy, dilated, 1BB |
2 | ALAD, ALADH, PBGS | Porphyria, acute hepatic Lead poisoning, susceptibility to |
2 | CYP2D6, CPD6, P450DB1 | Debrisoquine sensitivity Codeine sensitivity |
2 | CRFB4, IBD25 | Hepatitis B virus, susceptibility to Inflammatory bowel disease 25 |
2 | CRYGC, CRYG3, CCL | Cataract, Coppock-like Cataract, variable zonular pulverulent |
2 | CRYBA4 | Cataract, lamellar 2 Microphthalmia, isolated, with cataract 4 |
2 | CRYAB, CRYA2, CTPP2 | Myopathy, cardioskeletal, desmin-related, with cataract Cataract, posterior polar 2 |
2 | C9 | C9 deficiency C9 deficiency with dermatomyositis |
2 | C5 | C5 deficiency Liver fibrosis, susceptibility to |
2 | C1S | C1r/C1s deficiency, combined C1s deficiency, isolated |
2 | MME, CD10, CALLA, NEP | Neutral endopeptidase deficiency Membranous glomerulonephritis, antenatal |
2 | MMP1, CLG | COPD, rate of decline of lung function in Epidermolysis bullosa dystrophica, autosomal recessive, modifier of |
2 | COL9A2, EDM2 | Epiphyseal dysplasia, multiple, 2 Intervertebral disc disease, susceptibility to |
2 | COL8A2, FECD, PPCD2 | Fuchs endothelial corneal dystrophy Corneal dystrophy, polymorphous posterior, 2 |
2 | COL6A3 | Bethlem myopathy Ullrich congenital muscular dystrophy |
2 | COL5A1 | Ehlers-Danlos syndrome, type II Ehlers-Danlos syndrome, type I |
2 | COL3A1 | Ehlers-Danlos syndrome, type IV Ehlers-Danlos syndrome, type III |
2 | COL4A4 | Alport syndrome, autosomal recessive Hematuria, familial benign |
2 | COL10A1 | Metaphyseal chondrodysplasia, Schmid type Spondylometaphyseal dysplasia, Japanese type |
2 | COL4A3 | Alport syndrome, autosomal recessive Hematuria, benign familial |
2 | CHRNA4, ENFL1 | Epilepsy, nocturnal frontal lobe, 1 Nicotine addiction, susceptibility to |
2 | CYP11A, P450SCC | Lipoid congenital adrenal hyperplasia Adrenal insufficiency, congenital with or without 46, XY sex reversal |
2 | HSPD1, SPG13, HSP60, HLD4 | Spastic paraplegia-13 Leukodystrophy, hypomyelinating, 4 |
2 | COMT | Schizophrenia, susceptibility to Panic disorder, susceptibility to |
2 | TYRP1, CAS2, GP75 | Albinism, brown Albinism, rufous |
2 | NUP214, D9S46E, CAN, CAIN | Leukemia, acute myeloid Leukemia, T-cell acute lymphoblastic |
2 | CACNA1C, CACNL1A1, CCHL1A1, TS | Timothy syndrome Brugada syndrome 3 |
2 | CDH3, CDHP, PCAD, HJMD | Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy |
2 | BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 | Microphthalmia, syndromic 6 Orofacial cleft 11 |
2 | B4GALGT2, GALGT2, SD | Blood group, Sd system Blood group, Cad system |
2 | RHCE | Blood group, Rhesus Rh-null disease, amorph type |
2 | GYPA, MN, GPA | Blood group, MN Malaria, resistance to |
2 | SLC14A1, JK, UTE, UT1 | Urea transport defect, compensated Blood group, Kidd |
2 | GYPC, GE, GPC | Malaria, resistance to Blood group, Gerbich |
2 | ADRB1, ADRB1R, RHR | Resting heart rate Congestive heart failure and beta-blocker response, modifier of |
2 | ATP2A2, ATP2B, DAR | Darier disease Acrokeratosis verruciformis |
2 | AQP1, CHIP28, CO | Blood group, Colton Aquaporin-1 deficiency |
2 | APOA2 | Apolipoprotein A-II deficiency Hypercholesterolemia, familial, modification of |
2 | SERPINA3, AACT, ACT | Alpha-1-antichymotrypsin deficiency Cerebrovascular disease, occlusive |
2 | ANK2, LQT4 | Long QT syndrome-4 Cardiac arrhythmia, ankyrin-B-related |
2 | AGTR1, AGTR1A, AT2R1 | Hypertension, essential Renal tubular dysgenesis |
2 | SLC3A1, ATR1, D2H, NBAT | Cystinuria Homozygous 2p16 deletion syndrome |
2 | AFP, HPAFP | AFP deficiency, congenital Hereditary persistence of alpha-fetoprotein |
2 | A2M | Emphysema due to alpha-2-macroglobulin deficiency Alzheimer disease, susceptibility to |
2 | SLC25A4, ANT1, T1, PEO3 | Progressive external ophthalmoplegia with mitochondrial DNA deletions Cardiomyopathy, familial hypertrophic |
2 | ACTN3 | Alpha-actinin-3 deficiency Sprinting performance |
2 | ASCL1, ASH1 | Central hypoventilation syndrome, congenital Haddad syndrome |
2 | CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D | Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |