Allelic heterogeneity

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

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
13	PTEN, MMAC1, GLM2	Cowden disease Lhermitte-Duclos syndrome Bannayan-Riley-Ruvalcaba syndrome Meningioma Glioma susceptibility 2 Macrocephaly/autism syndrome PTEN hamartoma tumor syndrome VATER association with macrocephaly and ventriculomegaly Prostate cancer, somatic Thyroid carcinoma, follicular, somatic Malignant melanoma, somatic Endometrial carcinoma, somatic Squamous cell carcinoma, head and neck, somatic
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	FGFR3, ACH	Achondroplasia Hypochondroplasia Thanatophoric dysplasia, type I Crouzon syndrome with acanthosis nigricans Muenke syndrome Bladder cancer, somatic Colorectal cancer, somatic Cervical cancer, somatic LADD syndrome CATSHL syndrome Nevus, keratinocytic, nonepidermolytic Thanatophoric dysplasia, type II
10	PAX6, AN2, MGDA	Aniridia Peters anomaly Cataract with late-onset corneal dystrophy Keratitis Foveal hyperplasia Morning glory disc anomaly Optic nerve hypoplasia Coloboma, ocular Coloboma of optic nerve Gillespie syndrome
10	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1	Heterotopia, periventricular Otopalatodigital syndrome, type I Otopalatodigital syndrome, type II Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome Frontometaphyseal dysplasia Heterotopia, periventricular, ED variant FG syndrome 2 Cardiac valvular dysplasia, X-linked Terminal osseous dysplasia
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	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 Restrictive dermopathy, lethal Heart-hand syndrome, Slovenian type
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, PNCA2	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	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 Caffey disease Bone mineral density variation QTL
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	KRAS, KRAS2, RASK2, NS	Lung cancer Bladder cancer Breast cancer, somatic Pancreatic carcinoma, somatic Gastric cancer Leukemia, acute myelogenous Noonan syndrome 3 Cardiofaciocutaneous syndrome
8	PRPH2, DS, RP7, 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, PHP1C	Pseudohypoparathyroidism Ia McCune-Albright syndrome Pseudohypoparathyroidism Ic 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	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	FBN1, MFS1, WMS, SSKS	Marfan syndrome Shprintzen-Goldberg syndrome Ectopia lentis, familial MASS syndrome Weill-Marchesani syndrome, dominant Aortic aneurysm, ascending, and dissection Stiff skin 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 neurotrophic 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, susceptibility to Neural tube defects, susceptibility 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	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1	Brachyolmia type 3 Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Hereditary motor and sensory neuropathy, type IIc Scapuloperoneal spinal muscular atrophy Sodium serum level QTL 1
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	CFTR, ABCC7, CF, MRP7	Cystic fibrosis Congenital bilateral absence of vas deferens Sweat chloride elevation without CF Pancreatitis, idiopathic Hypertrypsinemia, neonatal Bronchiectasis with or without elevated sweat chloride 1, modifier of
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	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	Epileptic encephalopathy, early infantile, 1 Lissencephaly, X-linked 2 Mental retardation, X-linked 36/43/54 Proud syndrome Partington syndrome Hydranencephaly with abnormal genitalia
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	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	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	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 artery spasm 1, 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	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	Cardiomyopathy, familial hypertrophic, 1 Cardiomyopathy, dilated, 1S Myopathy, myosin storage Laing distal myopathy Scapuloperoneal syndrome, myopathic type Left ventricular noncompaction 5
6	MAPT, MTBT1, DDPAC, MSTD	Dementia, frontotemporal, with or without parkinsonism Pick disease Supranuclear palsy, progressive Supranuclear palsy, progressive atypical Parkinson disease, susceptibility to 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	HNF1A, TCF1, MODY3, IDDM20	MODY, type III Diabetes mellitus, noninsulin-dependent, 2 Diabetes mellitus, insulin-dependent Hepatic adenoma Renal cell carcinoma Diabetes mellitus, insulin-dependent, 20
6	FGFR1, FLT2, KAL2, OGD	Pfeiffer syndrome Jackson-Weiss syndrome Kallmann syndrome 2 Hypogonadotropic hypogonadism Osteoglophonic dysplasia Trigonocephaly
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	COL1A2	Ehlers-Danlos syndrome, type VIIB Osteogenesis imperfecta, type IV Osteogenesis imperfecta, type III Osteogenesis imperfecta, type II Osteoporosis, postmenopausal Ehlers-Danlos syndrome, cardiac valvular form
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, susceptibility to Budd-Chiari syndrome Thrombophilia, susceptibility 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 Short QT syndrome-2 Long QT syndrome 1, acquired, susceptibility to
5	WT1, NPHS4	Wilms tumor, type 1 Denys-Drash syndrome Nephrotic syndrome, type 4 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	SCN4A, HYPP, NAC1A, HOKPP2	Hyperkalemic periodic paralysis, type 2 Paramyotonia congenita Myotonia congenita, atypical, acetazolamide-responsive Cramps, familial, potassium-aggravated Myasthenic syndrome
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 et progressiva 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	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	PRPS1, CMTX5, DFNX1, DFN2	Gout, PRPS-related Phosphoribosylpyrophosphate synthetase superactivity Charcot-Marie-Tooth disease, X-linked recessive, 5 Arts syndrome Deafness, X-linked 1
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	CDH1, UVO, LCAM, ECAD	Endometrial carcinoma, somatic Ovarian carcinoma, somatic Breast cancer, lobular Gastric cancer, familial diffuse, with or without cleft lip and/or palate Prostate cancer, susceptibility to
5	UGT1A1, UGT1, GNT1, BILIQTL1	Crigler-Najjar syndrome, type I Gilbert syndrome Crigler-Najjar syndrome, type II Hyperbilirubinemia, familial transcient neonatal Bilirubin, serum level of, QTL1
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	SCN1A, GEFSP2, SMEI, FEB3A	Epilepsy, generalized, with febrile seizures plus, type 2 Epilepsy, severe myoclonic, of infancy Migraine, familial hemiplegic, 3 Dravet syndrome Febrile convulsions, familial, 3A
5	INS, MODY10, IDDM2	Hyperproinsulinemia, familial, with or without diabetes Maturity-onset diabetes of the young, type 10 Diabetes mellitus, permanent neonatal Diabetes mellitus, type 1 Diabetes mellitus, insulin-dependent, 2
5	PRNP, PRIP	Creutzfeldt-Jakob disease Gerstmann-Straussler disease Insomnia, fatal familial Prion disease with protracted course Huntington disease-like 1
5	POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS	Progressive external ophthalmoplegia, autosomal recessive Progressive external ophthalmoplegia, autosomal dominant Mitochondrial DNA depletion syndrome 4B MNGIE type Mitochondrial DNA depletion syndrome 4A Alpers type Mitochondrial recessive ataxia syndrome includes SANDO and SCAE
5	CD36, CHDS7	Macrothrombocytopenia Platelet glycoprotein IV deficiency Malaria, cerebral, susceptibility to Malaria, cerebral, reduced risk of Coronary heart disease, susceptibility to, 7
5	ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2	Ossification of posterior longitudinal ligament of spine Diabetes mellitus, non-insulin-dependent, susceptibility to Obesity, susceptibility to Arterial calcification, generalized, of infancy Hypophosphatemic rickets, autosomal recessive, 2
5	BRAF	Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome
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	IFNG, IFG, IFI	TSC2 angiomyolipomas, renal, modifier of Aplastic anemia Tuberculosis, protection against AIDS, rapid progression to Hepatitis C virus, response to therapy of
5	HLA-B, SPDA1	Spondyloarthropathy, susceptibility to, 1 Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to Abacavir hypersensitivity, susceptibility to Synovitis, chronic, susceptibility to Drug-induced liver injury due to flucloxacillin
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 histrix, 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	CTNNB1	Colorectal cancer Hepatoblastoma Pilomatricoma Ovarian cancer Hepatocellular carcinoma
5	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
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	TMEM67, MKS3, JBTS6	Meckel syndrome, type 3 Joubert syndrome 6 Bardet-Biedl syndrome 14, modifier of COACH syndrome
4	CHD7, IS3, KAL5	CHARGE syndrome Scoliosis, idiopathic 3 Kallmann syndrome 5 Hypogonadotropic hypogonadism
4	FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 4 Muscular dystrophy-dystroglycanopathy congenital without mental retardation, type B, 4 Cardiomyopathy, dilated, 1X Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 4
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, WS3	Waardenburg syndrome, type 1 Waardenburg syndrome, type 3 Craniofacial-deafness-hand syndrome Rhabdomyosarcoma 2, alveolar
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, DFNA14, DFNA38	Wolfram syndrome Deafness, autosomal dominant 6/14/38 Wolfram-like syndrome, autosomal dominant Diabetes mellitus, noninsulin-dependent, association with
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, NBIA2B, NBIA2A, PARK14	Infantile neuroaxonal dystrophy 1 Neurodegeneration with brain iron accumulation 2B Karak syndrome Parkinson disease 14
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	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	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	TAZ, EFE2, BTHS, CMD3A, LVNCX	Endocardial fibroelastosis-2 Barth syndrome Cardiomyopathy, dilated, 3A Left ventricular noncompaction, X-linked
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	TNNT2, CMH2, CMD1D, RCM3, LVNC6	Cardiomyopathy, familial hypertrophic, 2 Cardiomyopathy, dilated, 1D Cardiomyopathy, familial restrictive, 3 Left ventricular noncompaction 6
4	TNNI3, CMH7, CMD2A, RCM1, CMD1FF	Cardiomyopathy, familial hypertrophic, 7 Cardiomyopathy, familial restrictive Cardiomyopathy, dilated, 2A Cardiomyopathy, dilated, 1FF
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	F2	Hypoprothrombinemia Dysprothrombinemia Thrombosis, susceptibility to Stroke, ischemic, susceptibility to
4	PTPN11, PTP2C, SHP2, NS1	Noonan syndrome 1 Leopard syndrome Leukemia, juvenile myelomonocytic Metachondromatosis
4	PSAP, SAP1	Metachromatic leukodystrophy due to SAP-b deficiency Gaucher disease, atypical Combined SAP deficiency Krabbe disease, atypical
4	PLG	Plasminogen Tochigi disease Thrombophilia, dysplasminogenemic Plasminogen deficiency, types I and II Conjunctivitis, ligneous
4	ALPL, HOPS, TNSALP	Hypophosphatasia, infantile Hypophosphatasia, childhood Odontohypophosphatasia Hypophosphatasia, adult
4	PON1, PON, ESA, MVCD5	Coronary artery disease, susceptibility to {Coronary artery spasm 2, susceptibility to Organophosphate poisoning, sensitivity to Microvascular complications of diabetes, susceptibility to, 5
4	PTHR1, PTHR, PFE	Metaphyseal chondrodysplasia, Murk Jansen type Chondrodysplasia, Blomstrand type Eiken syndrome Failure of tooth eruption, primary
4	ERBB2, NGL, NEU, HER2	Adenocarcinoma of lung, somatic Glioblastoma, somatic Gastric cancer, somatic Ovarian cancer, somatic,
4	NRAS, ALPS4, NS6	Colorectal cancer Thyroid carcinoma, follicular Autoimmune lymphoproliferative syndrome type IV Noonan syndrome 6
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, susceptibility 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	IRF1, MAR	Myelodysplastic syndrome, preleukemic Myelogenous leukemia, acute Gastric cancer, somatic Nonsmall cell lung cancer, somatic
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	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	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 metabolizer 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	SERPINA1, PI, AAT	Emphysema due to AAT deficiency Emphysema-cirrhosis, due to AAT deficiency Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh 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 disproportion 1
4	ACTC1, CMD1R, CMH11, ASD5, LVNC4	Cardiomyopathy, dilated, 1R Cardiomyopathy, familial hypertrophic, 11 Atrial septal defect 5 Left ventricular noncompaction 4
4	ALDH2	Alcohol sensitivity, acute Hangover, susceptibility to Sublingual nitroglycerin, susceptibility to poor response to Esophageal cancer, alcohol-related, susceptibility to
3	DARC, FY, GPD, WBCQ1	Blood group, Duffy system Malaria, vivax, protection against White blood cell count QTL
3	FGQTL6, BWQTL3, PGQTL1	Fasting plasma glucose level QTL 6 Birth weight QTL 3 Plasma glucose, 2-hour, QTL 1
3	LU, AU, BCAM	Blood group, Lutheran system Blood group, Auberger system Blood group, Lutheran null
3	CC2D2A, KIAA1345, MKS6	Joubert syndrome 9 Meckel syndrome, type 6 COACH syndrome
3	C2orf25, MMADHC	Homocystinuria, cblD type, variant 1 Methylmalonic aciduria, cblD type, variant 2 Methylmalonic aciduria and homocystinuria, cblD type
3	RPGRIP1L, KIAA1005, JBTS7, MKS5	Joubert syndrome 7 Meckel syndrome, type 5 COACH syndrome
3	PALB2, FANCN, PNCA3	Fanconi anemia, complementation group N Breast cancer, susceptibility to Pancreatic cancer, susceptibility to, 3
3	SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4	Corneal endothelial dystrophy 2 Corneal endothelial dystrophy and perceptive deafness Corneal dystrophy, Fuchs endothelial, 4
3	LPL, LIPD, HDLCQ11	Lipoprotein lipase deficiency Combined hyperlipidemia, familial High density lipoprotein cholesterol level QTL 11
3	MSH2, COCA1, FCC1, HNPCC1	Colorectal cancer, hereditary nonpolyposis, type 1 Muir-Torre syndrome Mismatch repair cancer syndrome
3	SLC6A19, HND	Hartnup disorder Iminoglycinuria, digenic Hyperglycinuria
3	ARL6, BBS3, RP55	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1, modifier of Retinitis pigmentosa 55
3	GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C	Leukodystrophy, hypomyelinating, 2 Spastic paraplegia, 44 Lymphedema, hereditary, IC
3	PEX26	Adrenoleukodystrophy, neonatal Refsum disease, infantile form Zellweger syndrome
3	ANO5, TMEM16E, GDD1, LGMD2L	Gnathodiaphyseal dysplasia Muscular dystrophy, limb-girdle, type 2L Miyoshi muscular dystrophy 3
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	NPHP3, NPH3, RHPD, MKS7	Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia Meckel syndrome 7
3	LEMD3, MAN1	Osteopoikilosis Buschke-Ollendorff syndrome Melorheostosis with osteopoikilosis
3	POMT2, MDDGA2, MDDGB2, MDDGC2	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 2 Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 2 Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 2
3	POMT1, MDDGA1, MDDGB1, MDDGC1	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 1 Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 1 Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 1
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 1, 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	POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 3 Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 3 Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 3
3	FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 5 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation, type B, 5 Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 5
3	NLRP3, 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, CMD1C, LVNC3	Myopathy, myofibrillar, ZASP-related Cardiomyopathy, dilated 1C Left ventricular noncompaction 3, with or without dilated cardiomyopathy
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	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	LRAT, LCA14	Retinal dystrophy, early-onset severe Leber congenital amaurosis 14 Retinitis pigmentosa, juvenile
3	RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B	Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 Mitochondrial DNA depletion syndrome 8B MNGIE type
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	CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1	Cortical dysplasia-focal epilepsy syndrome Autism, susceptibility to, 15 Pitt-Hopkins like syndrome 1
3	MLH3, HNPCC7	Colorectal cancer, somatic Colon cancer, hereditary nonpolyposis, 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	CISH	Tuberculosis, susceptibility to Malaria, susceptibility to Bacteremia, susceptibility to
3	OPTN, GLC1E, FIP2, HYPL, NRP, ALS12	Glaucoma 1, open angle, E Glaucoma, normal tension, susceptibility to Amytrophic lateral sclerosis 12
3	DNM2, CMTDIB, CMTDI1, CMT2M	Charcot-Marie-Tooth disease, dominant intermediate B Myopathy, centronuclear Charcot-Marie-Tooth disease, axonal, type 2M
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	SOX10, WS4, WS4C, PCWH	Waardenburg syndrome, type 4C Waardenburg syndrome, type 2E, with or without neurologic involvement PCWH syndrome
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 2D 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	TWIST1, ACS3, SCS, CRS1	Saethre-Chotzen syndrome Saethre-Chotzen syndrome with eyelid anomalies Craniosynostosis, type 1
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	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	SDHA, SDH1, SDHF, CMD1GG	Leigh syndrome Mitochondrial respiratory chain complex II deficiency Cardiomyopathy, dilated, 1GG
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	MEF2C, C5DELq14.3; DEL5q14.3	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Chromosome 5q14.3 deletion 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	KLF1, EKLF, INLU, HBFQTL6	Blood group--Lutheran inhibitor Hereditary persistence of fetal hemoglobin Anemia, dyserythropoietic congenital, type IV
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	ABCA1, ABC1, HDLDT1, TGD	Tangier disease HDL deficiency, type 2 Coronary artery disease in familial hypercholesterolemia, protection against
3	LBR, PHA	Pelger-Huet anomaly Greenberg dysplasia Reynolds syndrome
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, SMAX3	Menkes disease Occipital horn syndrome Spinal muscular atrophy, distal, X-linked 3
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	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 hormone 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	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	TTR, PALB	Amyloidosis, hereditary, transthyretin-related Dystransthyretinemic hyperthyroxinemia Carpal tunnel syndrome, familial
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	NDUFV1, UQOR1	Leigh syndrome Alexander disease Mitochondrial complex I deficiency
3	MYH6, ASD3, MYHCA, CMD1EE, CMH14	Cardiomyopathy, familial hypertrophic, 14 Atrial septal defect 3 Cardiomyopathy, dilated, 1EE
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 albinism-deafness syndrome
3	ACAN, AGC1, CSPG1, MSK16, SEDK	Spondyloepiphyseal dysplasia, Kimberley type Spondyloepimetaphyseal dysplasia, aggrecan type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
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, EHK, BCIE, BIE	Epidermolytic hyperkeratosis Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis with confetti
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	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	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	FSHR, ODG1	Ovarian dysgenesis 1 Ovarian response to FSH stimulation Ovarian hyperstimulation syndrome
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, WS4A	Hirschsprung disease, susceptibility to, 2 ABCD syndrome Waardenburg syndrome, type 4A
3	EDN3, WS4B, HSCR4	Waardenburg syndrome, type 4B Central hypoventilation syndrome, congenital Hirschsprung disease, susceptibility to, 4
3	SELE, ELAM1	IgA nephropathy, susceptibility 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	DRD4	Autonomic nervous system dysfunction Novelty seeking personality Attention deficit-hyperactivity disorder
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, TTPP1, HOKPP1	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia susceptibility 5 Thyrotoxic periodic paralysis, susceptibility to, 1
3	ADRB2	Asthma, nocturnal, susceptibility to Obesity, susceptibility to Beta-2-adrenoreceptor agonist, reduced response to
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	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
2	DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13	Chromosome 19p13.13 deletion syndrome Chromosome 19p13.13 duplication syndrome
2	UROD	Porphyria cutanea tarda Porphyria, hepatoerythropoietic
2	LIPA, CESD	Wolman disease Cholesteryl ester storage disease
2	CBS	Homocystinuria, B6-responsive and nonresponsive types Thrombosis, hyperhomocysteinemic
2	FGQTL2, BWQTL1	Fasting plasma glucose level QTL 2 Birth weight QTL 1
2	CYB5R3, DIA1, B5R	Methemoglobinemia, type I Methemoglobinemia, type II
2	VWF, F8VWF	von Willebrand disease, autosomal dominant von Willebrand disease, autosomal recessive
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	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	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	SETBP1, KIAA0437, SEB	Leukemia, acute T-cell lymphoblastic Schinzel-Giedion midface retraction syndrome
2	G6PC3, UGRP, SCN4	Neutropenia, severe congenital, autosomal recessive 4 Darsun syndrome
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	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	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	SLITRK1, KIAA1910, TTM	Tourette syndrome Trichotillomania
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	DBH	Dopamine-beta-hydroxylase activity levels, plasma Dopamine beta-hydroxylase deficiency
2	CYP17A1, CYP17, P450C17	17-alpha-hydroxylase/17,20-lyase deficiency 17,20-lyase deficiency, isolated
2	CENPJ, CPAP, MCPH6, SCKL4	Microcephaly, primary autosomal recessive, 6 Seckel syndrome 4
2	P2RY5, P2Y5, LAH3, ARWH1	Hypotrichosis, localized, autosomal recessive, 3 Woolly hair, autosomal recessive 1
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	EFHC1, FLJ10466, EJM1, JAE, EJA1	Myoclonic epilepsy, juvenile, susceptibility 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	SLC36A2, PAT2	Iminoglycinuria, digenic Hyperglycinuria
2	KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B	Fibrosis of extraocular muscles, congenital, 1 Fibrosis of extraocular muscles, congenital, 3B
2	NEU1, NEU, SIAL1	Sialidosis, type I Sialidosis, type II
2	SH3TC2, KIAA1985, MNMN	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild
2	EXT1	Exostoses, multiple, type 1 Chondrosarcoma
2	ASPN, PLAP1, OS3	Osteoarthritis susceptibility 3 Lumbar disc degeneration
2	TTC8, BBS8, RP51	Bardet-Biedl syndrome 8 Retinitis pigmentosa 51
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	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	RCBTB1, CLLD7, GLP	Beta-glycopyranoside tasting Alcohol dependence, susceptibility to
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	LIPH, LAH2, ARWH2	Hypotrichosis, localized, autosomal recessive 2 Woolly hair, autosomal recessive 2 with or without hypotrichosis
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	LDLR, FHC, FH, LDLCQ2	Hypercholesterolemia, familial LDL cholesterol level QTL2
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	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 with brain iron accumulation 1 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	C10orf2, TWINKLE, PEO1, PEOA3, IOSCA, MTDPS7	Progressive external ophthalmoplegia, autosomal dominant, 3 Mitochondrial DNA depletion syndrome 7 hepatocerebral type
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	PRX, CMT4F	Dejerine-Sottas neuropathy, autosomal recessive Charcot-Marie-Tooth disease, type 4F
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	SLC6A20, XT3	Hyperglycinuria Iminoglycinuria, digenic
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	ALX4, PFM2, FPP, FND2	Parietal foramina 2 Frontonasal dysplasia 2
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	TARDBP, TDP43, ALS10	Amyotrophic lateral sclerosis 10, with or without FTD Frontotemporal lobar degeneration, TARDBP-related
2	SPINK5, LEKTI	Netherton syndrome Atopy
2	TBCE, KCS, KCS1, HRD	Kenny-Caffey syndrome-1 Hypoparathyroidism-retardation-dysmorphism syndrome
2	TNFRSF13B, TACI, CVID2	Immunoglobulin A deficiency 2 Immunodeficiency, common variable, 2
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	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	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	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	GPHN, 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	KCNE2, MIRP1, LQT6, ATFB4	Long QT syndrome-6 Atrial fibrillation, familial, 4
2	APOL1, FSGS4	Glomerulosclerosis, focal segmental, 4, susceptibility to End-stage renal disease, nondiabetic, susceptibility to
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, MDDGA6, MDDGB6	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 6 Muscular dystrophy-dystroglycanopathy congenital with mental retardation, type B, 6
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	PDE8B, PPNAD3, ADSD	Pigmented nodular adrenocortical disease, primary, 3 Striatal degeneration, autosomal dominant
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	RAD51C, FANCO, BROVCA3	Fanconi anemia, complementation group 0 Breast-ovarian cancer, familial, susceptibility to, 3
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	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	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	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, 1 Myokymia
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	NEUROD1, NIDDM	Diabetes mellitus, noninsulin-dependent Maturity-onset diabetes of the young 6
2	HADHSC, SCHAD, HHF4	3-hydroxyacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia, familial, 4
2	SMARCB1, SNF5, INI1, RDT, RTPS1	Rhabdoid tumors Rhabdoid predisposition syndrome 1
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, susceptibility 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	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	TLR1, TIL. LPRS5	Leprosy, protection against Leprosy, susceptibility to, 5
2	CCL11, SCYA11	HIV1, resistance to Asthma, susceptibility to
2	GDF6, CDMP2, MCOP4	Klippel-Feil syndrome, autosomal dominant Microphthalmia, isolated 4
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	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, CMM6	Melanoma, cutaneous malignant, susceptibility to, 6 Breast cancer, susceptibility to
2	HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7, CLPED1	Cleft lip/palate-ectodermal dysplasia syndrome Orofacial cleft 7
2	FEOM3	Fibrosis of extraocular muscles, congenital, 3 Fibrosis, congenital, of vertically acting extraocular muscles
2	NRXN1, PTHSL2	Autism, susceptibility to Pitt-Hopkins-like syndrome 2
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	GUCA1A, GCAP, COD3, CORD14	Cone dystrophy-3 Cone-rod dystrophy 14
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	PDCD1, SLEB2	Systemic lupus erythematosus, susceptibility to, 2 Multiple sclerosis, disease progression, modifier of
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	TBP, SCA17, HDL4	Spinocerebellar ataxia 17 Parkinson disease, susceptibility to
2	BAX	Colorectal cancer T-cell acute lymphoblastic leukemia
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	ALAS2, ANH1, ASB, XLDPP, XLSA, ANH1	Anemia, sideroblastic, X-linked Protoporphyria, erythropoietic, X-linked dominant
2	OPN1MW, GCP, CBD, CBBM	Colorblindness, deutan Blue cone monochromacy
2	GPR143, OA1, NYS6	Ocular albinism, type I, Nettleship-Falls type Nystagmus 6, congenital, X-linked
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, MRXS16	Aarskog-Scott syndrome Mental retardation, X-linked syndromic 16
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	NHS, CXN	Nance-Horan syndrome Cataract, congenital, X-linked
2	ED1, EDA, HED, STHAGX1	Ectodermal dysplasia, anhidrotic, X-linked Tooth agenesis, selective, X-linked 1
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	ZIC3, HTX1, HTX	Heterotaxy, visceral, 1, S-linked 306955 Congenital heart defects, nonsyndromic, 1, X-linked
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	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	DLD, LAD, PHE3	Maple syrup urine disease, type III Leigh syndrome
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	VCL, CMD1W, CMH15	Cardiomyopathy, dilated, 1W Cardiomyopathy, familial hypertrophic, 15
2	ITGA2, CD49B, BR	Neonatal alloimmune thrombocytopenia Glycoprotein Ia deficiency
2	UCHL1, PARK5	Parkinson disease 5, susceptibility to Parkinson disease, resistance to
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, CMH13	Cardiomyopathy, dilated, 1Z Cardiomyopathy, familial hypertrophic, 13
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	ZEB1, TCF8, NIL2A, PPCD3, FECD6	Corneal dystrophy, posterior polymorphous, 3 Corneal dystrophy, Fuchs endothelial, 6
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	EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8	Diarrhea 5, with tufting enteropathy, congenital Colorectal cancer, hereditary nonpolyposis, type I
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	SOS1, GINGF, GF1, HGF, NS4	Fibromatosis, gingival Noonan syndrome 4
2	SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2	Nephrolithiasis/osteoporosis, hypophosphatemic, 1 Fanconi renotubular syndrome 2
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	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	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	Plasminogen activator inhibitor, type I Transcription of plasminogen activator inhibitor, modulator of
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	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	PTHLH, BDE2	Humoral hypercalcemia of malignancy Brachydactyly, type E2
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	SNCA, NACP, PARK1, PARK4	Parkinson disease 4 Dementia, Lewy body
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, susceptibility 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	MYH8	Carney complex variant Trismus-pseudocamptodactyly syndrome
2	MYH3	Arthrogryposis, distal, type 2A Arthrogryposis, distal, type 2B
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	MC3R, BMIQ9	Obesity, severe, susceptibility to, BMIQ9 Mycobacterium tuberculosis, protection against
2	MGP, NTI	Keutel syndrome Natural teeth remaining intact
2	ME2, ODS1	Epilepsy, idiopathic 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	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	HLA-C, PSORS1	Psoriasis, early onset, susceptibility to HIV-1 viremia, susceptibility to
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	SLC2A1, GLUT1, DYT18, PED, ,GLUT1DS	GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 2
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, NBIA3	Hyperferritinemia-cataract syndrome Neurodegeneration with brain iron accumulation 3
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	DCC	Colorectal cancer Mirror movements, congenital
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, FECD1, PPCD2	Corneal dystrophy, Fuchs endothelial, 1 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	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	BRCA1, PSCP, BROVCA1, PNCA4	Breast-ovarian cancer, familial, 1 Pancreatic cancer, susceptibility to, 4
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	CYP19A1, CYP19, ARO	Aromatase deficiency Aromatase excess syndrome
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	AFP, HPAFP	AFP deficiency, congenital Hereditary persistence of alpha-fetoprotein
2	A2M	Emphysema due to alpha-2-macroglobulin deficiency Alzheimer disease, susceptibility to
2	ADH1C, ADH3	Alcohol dependence, protection against Parkinson disease, susceptibility to
2	SLC25A4, ANT1, T1, PEO3, PEO2	Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 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

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